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Prader-Willi syndrome(PWS)

MedGen UID:
46057
Concept ID:
C0032897
Congenital Abnormality
Synonyms: Obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet; Prader Labhart Willi syndrome; PWS
Modes of inheritance:
Sporadic
MedGen UID:
342827
Concept ID:
C1853237
Finding
Sources: HPO, OMIM
Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Sporadic (HPO, OMIM)
not inherited (Orphanet)
SNOMED CT: Prader-Willi syndrome (89392001)
 
Genes (locations): HERC2 (15q13.1); IPW (15q11.2); MAGEL2 (15q11.2); MKRN3 (15q11.2); MKRN3-AS1 (15q11-q13); NDN (15q11.2); NPAP1 (15q11.2); PWAR1 (15q11.2); PWRN1 (15q11.2); SNORD115-1 (15q11.2); SNORD116-1 (15q11.2); SNRPN (15q11.2)
OMIM®: 176270
Orphanet: ORPHA739

Disease characteristics

Excerpted from the GeneReview: Prader-Willi Syndrome
Prader-Willi syndrome (PWS) is characterized by severe hypotonia and feeding difficulties in early infancy, followed in later infancy or early childhood by excessive eating and gradual development of morbid obesity (unless eating is externally controlled). Motor milestones and language development are delayed. All individuals have some degree of cognitive impairment. A distinctive behavioral phenotype (with temper tantrums, stubbornness, manipulative behavior, and obsessive-compulsive characteristics) is common. Hypogonadism is present in both males and females and manifests as genital hypoplasia, incomplete pubertal development, and, in most, infertility. Short stature is common (if not treated with growth hormone); characteristic facial features, strabismus, and scoliosis are often present. [from GeneReviews]
Authors:
Daniel J Driscoll  |  Jennifer L Miller  |  Stuart Schwartz, et. al.   view full author information

Additional descriptions

From OMIM
Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (105830) region. See also the chromosome 15q11-q13 duplication syndrome (608636), which shows overlapping clinical features.  http://www.omim.org/entry/176270
From GHR
Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes mellitus (the most common form of diabetes).People with Prader-Willi syndrome typically have mild to moderate intellectual impairment and learning disabilities. Behavioral problems are common, including temper outbursts, stubbornness, and compulsive behavior such as picking at the skin. Sleep abnormalities can also occur. Additional features of this condition include distinctive facial features such as a narrow forehead, almond-shaped eyes, and a triangular mouth; short stature; and small hands and feet. Some people with Prader-Willi syndrome have unusually fair skin and light-colored hair. Both affected males and affected females have underdeveloped genitals. Puberty is delayed or incomplete, and most affected individuals are unable to have children (infertile).  https://ghr.nlm.nih.gov/condition/prader-willi-syndrome

Clinical features

Adrenal insufficiency
MedGen UID:
1351
Concept ID:
C0001623
Disease or Syndrome
Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.
Diabetes mellitus type 2
MedGen UID:
41523
Concept ID:
C0011860
Disease or Syndrome
Diabetes means your blood glucose, or blood sugar, levels are too high. With type 2 diabetes, the more common type, your body does not make or use insulin well. Insulin is a hormone that helps glucose get into your cells to give them energy. Without insulin, too much glucose stays in your blood. Over time, high blood glucose can lead to serious problems with your heart, eyes, kidneys, nerves, and gums and teeth. You have a higher risk of type 2 diabetes if you are older, obese, have a family history of diabetes, or do not exercise. Having prediabetes also increases your risk. Prediabetes means that your blood sugar is higher than normal but not high enough to be called diabetes. The symptoms of type 2 diabetes appear slowly. Some people do not notice symptoms at all. The symptoms can include. -Being very thirsty. -Urinating often. -Feeling very hungry or tired. -Losing weight without trying. -Having sores that heal slowly. -Having blurry eyesight. Blood tests can show if you have diabetes. One type of test, the A1C, can also check on how you are managing your diabetes. Many people can manage their diabetes through healthy eating, physical activity, and blood glucose testing. Some people also need to take diabetes medicines. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Hyperinsulinemia
MedGen UID:
43779
Concept ID:
C0020459
Disease or Syndrome
An increased concentration of insulin in the blood.
Oligomenorrhea
MedGen UID:
18159
Concept ID:
C0028949
Pathologic Function
Infrequent menses (less than 6 per year or more than 35 days between cycles).
Precocious puberty
MedGen UID:
18752
Concept ID:
C0034013
Disease or Syndrome
The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.
Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
Delayed female puberty
MedGen UID:
543451
Concept ID:
C0271618
Pathologic Function
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
Hypogonadotropic hypogonadism 7 with or without anosmia
MedGen UID:
82883
Concept ID:
C0271623
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Growth hormone deficiency
MedGen UID:
811475
Concept ID:
C3714796
Disease or Syndrome
Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism.
Esotropia
MedGen UID:
4550
Concept ID:
C0014877
Disease or Syndrome
A form of strabismus with one or both eyes turned inward ('crossed') to a relatevely severe degree, usually defined as 10 diopters or more.
Hypermetropia
MedGen UID:
43780
Concept ID:
C0020490
Disease or Syndrome
A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed)
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Iris hypopigmentation
MedGen UID:
509721
Concept ID:
C0154920
Finding
An abnormal reduction in the amount of pigmentation of the iris.
Cryptorchidism, unilateral or bilateral
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Infertility
MedGen UID:
43876
Concept ID:
C0021359
Finding
Infertility means not being able to become pregnant after a year of trying. If a woman can get pregnant but keeps having miscarriages or stillbirths, that's also called infertility. Infertility is fairly common. After one year of having unprotected sex, about 15 percent of couples are unable to get pregnant. About a third of the time, infertility can be traced to the woman. In another third of cases, it is because of the man. The rest of the time, it is because of both partners or no cause can be found. There are treatments that are specifically for men or for women. Some involve both partners. Drugs, assisted reproductive technology, and surgery are common treatments. Happily, many couples treated for infertility go on to have babies. NIH: National Institute of Child Health and Human Development.
Oligomenorrhea
MedGen UID:
18159
Concept ID:
C0028949
Pathologic Function
Infrequent menses (less than 6 per year or more than 35 days between cycles).
Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
Micropenis
MedGen UID:
78603
Concept ID:
C0266435
Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Hypogonadotropic hypogonadism 7 with or without anosmia
MedGen UID:
82883
Concept ID:
C0271623
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Small scrotum
MedGen UID:
98138
Concept ID:
C0431659
Finding
Apparently small scrotum for age.
Clitoral hypoplasia
MedGen UID:
336198
Concept ID:
C1844527
Finding
Developmental hypoplasia of the clitoris.
Hypoplastic labia minora
MedGen UID:
376558
Concept ID:
C1849295
Finding
Syndactyly
MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Clinodactyly
MedGen UID:
120550
Concept ID:
C0265610
Congenital Abnormality
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Small hand
MedGen UID:
108279
Concept ID:
C0575802
Finding
Disproportionately small hand.
Radial deviation of finger
MedGen UID:
322852
Concept ID:
C1836189
Finding
Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
Short palm
MedGen UID:
334684
Concept ID:
C1843108
Finding
Short palm.
Short foot
MedGen UID:
376415
Concept ID:
C1848673
Finding
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Narrow palm
MedGen UID:
346628
Concept ID:
C1857632
Finding
For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length.
Obesity
MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
Obesity means having too much body fat. It is different from being overweight, which means weighing too much. The weight may come from muscle, bone, fat, and/or body water. Both terms mean that a person's weight is greater than what's considered healthy for his or her height. . Obesity occurs over time when you eat more calories than you use. The balance between calories-in and calories-out differs for each person. Factors that might affect your weight include your genetic makeup, overeating, eating high-fat foods, and not being physically active. . Being obese increases your risk of diabetes, heart disease, stroke, arthritis, and some cancers. If you are obese, losing even 5 to 10 percent of your weight can delay or prevent some of these diseases. For example, that means losing 10 to 20 pounds if you weigh 200 pounds. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Delayed female puberty
MedGen UID:
543451
Concept ID:
C0271618
Pathologic Function
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
Truncal obesity
MedGen UID:
90229
Concept ID:
C0311277
Finding
A condition of having excess fat in the abdomen. Abdominal obesity is typically defined as waist circumferences of 40 inches or more in men and 35 inches or more in women. Abdominal obesity raises the risk of developing disorders, such as diabetes, hypertension and METABOLIC SYNDROME X.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Failure to thrive in infancy
MedGen UID:
358083
Concept ID:
C1867873
Finding
Poor suck
MedGen UID:
324693
Concept ID:
C1837142
Finding
An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.
Autistic disorder of childhood onset
MedGen UID:
13966
Concept ID:
C0004352
Mental or Behavioral Dysfunction
Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options. Genetic Heterogeneity of Autism Autism is considered to be a complex multifactorial disorder involving many genes. Accordingly, several loci have been identified, some or all of which may contribute to the phenotype. Included in this entry is AUTS1, which has been mapped to chromosome 7q22. Other susceptibility loci include AUTS3 (608049), which maps to chromosome 13q14; AUTS4 (608636), which maps to chromosome 15q11; AUTS5 (606053), which maps to chromosome 2q; AUTS6 (609378), which maps to chromosome 17q11; AUTS7 (610676), which maps to chromosome 17q21; AUTS8 (607373), which maps to chromosome 3q25-q27; AUTS9 (611015), which maps to chromosome 7q31; AUTS10 (611016), which maps to chromosome 7q36; AUTS11 (610836), which maps to chromosome 1q41; AUTS12 (610838), which maps to chromosome 21p13-q11; AUTS13 (610908), which maps to chromosome 12q14; AUTS14A (611913), which has been found in patients with a deletion of a region of 16p11.2; AUTS14B (614671), which has been found in patients with a duplication of a region of 16p11.2; AUTS15 (612100), associated with mutation in the CNTNAP2 gene (604569) on chromosome 7q35-q36; AUTS16 (613410), associated with mutation in the SLC9A9 gene (608396) on chromosome 3q24; AUTS17 (613436), associated with mutation in the SHANK2 gene (603290) on chromosome 11q13; and AUTS18 (615032), associated with mutation in the CHD8 gene (610528). (NOTE: the symbol 'AUTS2' has been used to refer to a gene on chromosome 7q11 (KIAA0442; 607270) and therefore is not used as a part of this autism locus series.) There are several X-linked forms of autism susceptibility: AUTSX1 (300425), associated with mutations in the NLGN3 gene (300336); AUTSX2 (300495), associated with mutations in NLGN4 (300427); AUTSX3 (300496), associated with mutations in MECP2 (300005); AUTSX4 (300830), associated with variation in the region on chromosome Xp22.11 containing the PTCHD1 gene (300828); AUTSX5 (300847), associated with mutations in the RPL10 gene (312173); and AUTSX6 (300872), associated with mutation in the TMLHE gene (300777). Folstein and Rosen-Sheidley (2001) reviewed the genetics of autism.
Seizure Disorders
MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke.
Polyphagia
MedGen UID:
9369
Concept ID:
C0020505
Finding
A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.
Psychosis
MedGen UID:
19568
Concept ID:
C0033975
Mental or Behavioral Dysfunction
Psychotic disorders are severe mental disorders that cause abnormal thinking and perceptions. People with psychoses lose touch with reality. Two of the main symptoms are delusions and hallucinations. Delusions are false beliefs, such as thinking that someone is plotting against you or that the TV is sending you secret messages. Hallucinations are false perceptions, such as hearing, seeing, or feeling something that is not there. Schizophrenia is one type of psychotic disorder. People with bipolar disorder may also have psychotic symptoms. Other problems that can cause psychosis include alcohol and some drugs, brain tumors, brain infections, and stroke. Treatment depends on the cause of the psychosis. It might involve drugs to control symptoms and talk therapy. Hospitalization is an option for serious cases where a person might be dangerous to himself or others.
Sleep apnea
MedGen UID:
11458
Concept ID:
C0037315
Disease or Syndrome
Sleep apnea is a common disorder that causes your breathing to stop or get very shallow. Breathing pauses can last from a few seconds to minutes. They may occur 30 times or more an hour. The most common type is obstructive sleep apnea. It causes your airway to collapse or become blocked during sleep. Normal breathing starts again with a snort or choking sound. People with sleep apnea often snore loudly. However, not everyone who snores has sleep apnea. You are more at risk for sleep apnea if you are overweight, male, or have a family history or small airways. Children with enlarged tonsils may also get it. Doctors diagnose sleep apnea based on medical and family histories, a physical exam, and sleep study results. When your sleep is interrupted throughout the night, you can be drowsy during the day. People with sleep apnea are at higher risk for car crashes, work-related accidents, and other medical problems. If you have it, it is important to get treatment. Lifestyle changes, mouthpieces, surgery, and breathing devices can treat sleep apnea in many people. NIH: National Heart, Lung, and Blood Institute.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Attention deficit hyperactivity disorder
MedGen UID:
220387
Concept ID:
C1263846
Mental or Behavioral Dysfunction
Is it hard for your child to sit still? Does your child act without thinking first? Does your child start but not finish things? If so, your child may have attention deficit hyperactivity disorder (ADHD). Nearly everyone shows some of these behaviors at times, but ADHD lasts more than 6 months and causes problems in school, at home and in social situations. ADHD is more common in boys than girls. It affects 3-5 percent of all American children. The main features of ADHD are. -Inattention. -Hyperactivity. -Impulsivity. No one knows exactly what causes ADHD. It sometimes runs in families, so genetics may be a factor. There may also be environmental factors. A complete evaluation by a trained professional is the only way to know for sure if your child has ADHD. Treatment may include medicine to control symptoms, therapy, or both. Structure at home and at school is important. Parent training may also help. NIH: National Institute of Mental Health .
Impaired pain sensation
MedGen UID:
373348
Concept ID:
C1837522
Finding
Reduced ability to perceive painful stimuli.
Cognitive delay
MedGen UID:
351243
Concept ID:
C1864897
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Poor gross motor coordination
MedGen UID:
357363
Concept ID:
C1867863
Finding
An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts.
Poor fine motor coordination
MedGen UID:
356863
Concept ID:
C1867864
Finding
An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes.
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Growth hormone deficiency
MedGen UID:
811475
Concept ID:
C3714796
Disease or Syndrome
Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism.
No development of motor milestones
MedGen UID:
892432
Concept ID:
C4020874
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Specific learning disability
MedGen UID:
871302
Concept ID:
C4025790
Mental or Behavioral Dysfunction
Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
Sleep apnea
MedGen UID:
11458
Concept ID:
C0037315
Disease or Syndrome
Sleep apnea is a common disorder that causes your breathing to stop or get very shallow. Breathing pauses can last from a few seconds to minutes. They may occur 30 times or more an hour. The most common type is obstructive sleep apnea. It causes your airway to collapse or become blocked during sleep. Normal breathing starts again with a snort or choking sound. People with sleep apnea often snore loudly. However, not everyone who snores has sleep apnea. You are more at risk for sleep apnea if you are overweight, male, or have a family history or small airways. Children with enlarged tonsils may also get it. Doctors diagnose sleep apnea based on medical and family histories, a physical exam, and sleep study results. When your sleep is interrupted throughout the night, you can be drowsy during the day. People with sleep apnea are at higher risk for car crashes, work-related accidents, and other medical problems. If you have it, it is important to get treatment. Lifestyle changes, mouthpieces, surgery, and breathing devices can treat sleep apnea in many people. NIH: National Heart, Lung, and Blood Institute.
Hypoventilation
MedGen UID:
469022
Concept ID:
C3203358
Pathologic Function
A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide).
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Cryptorchidism, unilateral or bilateral
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Infertility
MedGen UID:
43876
Concept ID:
C0021359
Finding
Infertility means not being able to become pregnant after a year of trying. If a woman can get pregnant but keeps having miscarriages or stillbirths, that's also called infertility. Infertility is fairly common. After one year of having unprotected sex, about 15 percent of couples are unable to get pregnant. About a third of the time, infertility can be traced to the woman. In another third of cases, it is because of the man. The rest of the time, it is because of both partners or no cause can be found. There are treatments that are specifically for men or for women. Some involve both partners. Drugs, assisted reproductive technology, and surgery are common treatments. Happily, many couples treated for infertility go on to have babies. NIH: National Institute of Child Health and Human Development.
Oligomenorrhea
MedGen UID:
18159
Concept ID:
C0028949
Pathologic Function
Infrequent menses (less than 6 per year or more than 35 days between cycles).
Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
Micropenis
MedGen UID:
78603
Concept ID:
C0266435
Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Hypogonadotropic hypogonadism 7 with or without anosmia
MedGen UID:
82883
Concept ID:
C0271623
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Small scrotum
MedGen UID:
98138
Concept ID:
C0431659
Finding
Apparently small scrotum for age.
Clitoral hypoplasia
MedGen UID:
336198
Concept ID:
C1844527
Finding
Developmental hypoplasia of the clitoris.
Hypoplastic labia minora
MedGen UID:
376558
Concept ID:
C1849295
Finding
Decreased muscle mass
MedGen UID:
373256
Concept ID:
C1837108
Finding
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Diabetes mellitus type 2
MedGen UID:
41523
Concept ID:
C0011860
Disease or Syndrome
Diabetes means your blood glucose, or blood sugar, levels are too high. With type 2 diabetes, the more common type, your body does not make or use insulin well. Insulin is a hormone that helps glucose get into your cells to give them energy. Without insulin, too much glucose stays in your blood. Over time, high blood glucose can lead to serious problems with your heart, eyes, kidneys, nerves, and gums and teeth. You have a higher risk of type 2 diabetes if you are older, obese, have a family history of diabetes, or do not exercise. Having prediabetes also increases your risk. Prediabetes means that your blood sugar is higher than normal but not high enough to be called diabetes. The symptoms of type 2 diabetes appear slowly. Some people do not notice symptoms at all. The symptoms can include. -Being very thirsty. -Urinating often. -Feeling very hungry or tired. -Losing weight without trying. -Having sores that heal slowly. -Having blurry eyesight. Blood tests can show if you have diabetes. One type of test, the A1C, can also check on how you are managing your diabetes. Many people can manage their diabetes through healthy eating, physical activity, and blood glucose testing. Some people also need to take diabetes medicines. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Hyperinsulinemia
MedGen UID:
43779
Concept ID:
C0020459
Disease or Syndrome
An increased concentration of insulin in the blood.
Temperature instability
MedGen UID:
329973
Concept ID:
C1820737
Finding
Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature.
Hypernasal voice
MedGen UID:
99115
Concept ID:
C0454555
Finding
A type of speech characterized by the presence of an abnormally increased nasal airflow during speech.
Dysplasia of acetabulum
MedGen UID:
9258
Concept ID:
C0019555
Congenital Abnormality
The presence of developmental dysplasia of the hip.
Kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Deformities of the SPINE characterized by an exaggerated convexity of the vertebral column. The forward bending of the thoracic region usually is more than 40 degrees. This deformity sometimes is called round back or hunchback.
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value.
Generalized osteoporosis
MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
Osteoporosis is a disease that thins and weakens the bones. Your bones become fragile and break easily, especially the bones in the hip, spine, and wrist. In the United States, millions of people either already have osteoporosis or are at high risk due to low bone mass. Anyone can develop osteoporosis, but it is more common in older women. Risk factors include. -Getting older . -Being small and thin . -Having a family history of osteoporosis. -Taking certain medicines. -Being a white or Asian woman. -Having low bone density. Osteoporosis is a silent disease. You might not know you have it until you break a bone. A bone mineral density test is the best way to check your bone health. To keep bones strong, eat a diet rich in calcium and vitamin D, exercise, and do not smoke. If needed, medicines can also help. It is also important to try to avoid falling down. Falls are the number one cause of fractures in older adults. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.
Scoliosis
MedGen UID:
21278
Concept ID:
C0037932
Finding
The presence of an abnormal lateral curvature of the spine.
Syndactyly
MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Dolichocephaly
MedGen UID:
65142
Concept ID:
C0221358
Congenital Abnormality
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Clinodactyly
MedGen UID:
120550
Concept ID:
C0265610
Congenital Abnormality
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Small hand
MedGen UID:
108279
Concept ID:
C0575802
Finding
Disproportionately small hand.
Radial deviation of finger
MedGen UID:
322852
Concept ID:
C1836189
Finding
Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
Short palm
MedGen UID:
334684
Concept ID:
C1843108
Finding
Short palm.
Short foot
MedGen UID:
376415
Concept ID:
C1848673
Finding
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Carious teeth
MedGen UID:
8288
Concept ID:
C0011334
Disease or Syndrome
You call it a cavity. Your dentist calls it tooth decay or dental caries. They're all names for a hole in your tooth. The cause of tooth decay is plaque, a sticky substance in your mouth made up mostly of germs. Tooth decay starts in the outer layer, called the enamel. Without a filling, the decay can get deep into the tooth and its nerves and cause a toothache or abscess. To help prevent cavities. -Brush your teeth every day with a fluoride toothpaste. -Clean between your teeth every day with floss or another type of between-the-teeth cleaner. -Snack smart - limit sugary snacks. -See your dentist or oral health professional regularly.
Dolichocephaly
MedGen UID:
65142
Concept ID:
C0221358
Congenital Abnormality
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Upslanted palpebral fissure
MedGen UID:
98390
Concept ID:
C0423109
Finding
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Narrow nasal bridge
MedGen UID:
98086
Concept ID:
C0426422
Finding
Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae.
Narrow forehead
MedGen UID:
326956
Concept ID:
C1839758
Finding
Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).
Thin upper lip vermilion
MedGen UID:
355352
Concept ID:
C1865017
Finding
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Downturned corners of mouth
MedGen UID:
356471
Concept ID:
C1866195
Finding
A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.
Almond-shaped palpebral fissure
MedGen UID:
870336
Concept ID:
C4024780
Finding
A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point.
Hypopigmentation of the skin
MedGen UID:
102477
Concept ID:
C0162835
Disease or Syndrome
A reduction of skin color related to a decrease in melanin production and deposition.
Cutaneous photosensitivity
MedGen UID:
87601
Concept ID:
C0349506
Pathologic Function
increased sensitivity of the skin to light and other sources of UV
Frontal upsweep of hair
MedGen UID:
452910
Concept ID:
C1185616
Finding
Upward and/or sideward growth of anterior hair.
Generalized hypopigmentation
MedGen UID:
340426
Concept ID:
C1849923
Finding
Hypopigmentation of hair
MedGen UID:
480031
Concept ID:
C3278401
Finding
Decreased fetal movement
MedGen UID:
68618
Concept ID:
C0235659
Pathologic Function
An abnormal reduction in quantity or strength of fetal movements.
Adrenal insufficiency
MedGen UID:
1351
Concept ID:
C0001623
Disease or Syndrome
Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.
Diabetes mellitus type 2
MedGen UID:
41523
Concept ID:
C0011860
Disease or Syndrome
Diabetes means your blood glucose, or blood sugar, levels are too high. With type 2 diabetes, the more common type, your body does not make or use insulin well. Insulin is a hormone that helps glucose get into your cells to give them energy. Without insulin, too much glucose stays in your blood. Over time, high blood glucose can lead to serious problems with your heart, eyes, kidneys, nerves, and gums and teeth. You have a higher risk of type 2 diabetes if you are older, obese, have a family history of diabetes, or do not exercise. Having prediabetes also increases your risk. Prediabetes means that your blood sugar is higher than normal but not high enough to be called diabetes. The symptoms of type 2 diabetes appear slowly. Some people do not notice symptoms at all. The symptoms can include. -Being very thirsty. -Urinating often. -Feeling very hungry or tired. -Losing weight without trying. -Having sores that heal slowly. -Having blurry eyesight. Blood tests can show if you have diabetes. One type of test, the A1C, can also check on how you are managing your diabetes. Many people can manage their diabetes through healthy eating, physical activity, and blood glucose testing. Some people also need to take diabetes medicines. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Hyperinsulinemia
MedGen UID:
43779
Concept ID:
C0020459
Disease or Syndrome
An increased concentration of insulin in the blood.
Oligomenorrhea
MedGen UID:
18159
Concept ID:
C0028949
Pathologic Function
Infrequent menses (less than 6 per year or more than 35 days between cycles).
Precocious puberty
MedGen UID:
18752
Concept ID:
C0034013
Disease or Syndrome
The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.
Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
Delayed female puberty
MedGen UID:
543451
Concept ID:
C0271618
Pathologic Function
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
Hypogonadotropic hypogonadism 7 with or without anosmia
MedGen UID:
82883
Concept ID:
C0271623
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Growth hormone deficiency
MedGen UID:
811475
Concept ID:
C3714796
Disease or Syndrome
Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism.

Professional guidelines

PubMed

Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, Peterlin B, Radojkovic D, Rogowski W, Soller M, Tibben A, Tranebjærg L, van El CG, Cornel MC; European Society of Human Genetics.; American Society of Human Genetics.
Eur J Hum Genet 2015 Nov;23(11):1438-50. Epub 2015 Mar 18 doi: 10.1038/ejhg.2015.57. PMID: 25782669Free PMC Article
Schaefer GB, Mendelsohn NJ; Professional Practice and Guidelines Committee.
Genet Med 2013 May;15(5):399-407. Epub 2013 Mar 21 doi: 10.1038/gim.2013.32. PMID: 23519317
McCandless SE; Committee on Genetics.
Pediatrics 2011 Jan;127(1):195-204. Epub 2010 Dec 27 doi: 10.1542/peds.2010-2820. PMID: 21187304
August GP, Caprio S, Fennoy I, Freemark M, Kaufman FR, Lustig RH, Silverstein JH, Speiser PW, Styne DM, Montori VM; Endocrine Society.
J Clin Endocrinol Metab 2008 Dec;93(12):4576-99. Epub 2008 Sep 9 doi: 10.1210/jc.2007-2458. PMID: 18782869
Shaffer LG, Agan N, Goldberg JD, Ledbetter DH, Longshore JW, Cassidy SB
Genet Med 2001 May-Jun;3(3):206-11. doi: 10.109700125817-200105000-00011. PMID: 11388763Free PMC Article

Recent clinical studies

Etiology

Miller JL, Tamura R, Butler MG, Kimonis V, Sulsona C, Gold JA, Driscoll DJ
Am J Med Genet A 2017 May;173(5):1243-1250. Epub 2017 Mar 30 doi: 10.1002/ajmg.a.38160. PMID: 28371242
Orsso CE, Mackenzie M, Alberga AS, Sharma AM, Richer L, Rubin DA, Prado CM, Haqq AM
Metabolism 2017 Apr;69:67-75. Epub 2017 Jan 16 doi: 10.1016/j.metabol.2017.01.020. PMID: 28285653
Bennett JA, Hodgetts S, Mackenzie ML, Haqq AM, Zwaigenbaum L
Int J Mol Sci 2017 Feb 28;18(3) doi: 10.3390/ijms18030517. PMID: 28264487Free PMC Article
Grugni G, Marzullo P
Best Pract Res Clin Endocrinol Metab 2016 Dec;30(6):785-794. Epub 2016 Nov 9 doi: 10.1016/j.beem.2016.11.003. PMID: 27974191
Shivers CM, Leonczyk CL, Dykens EM
J Autism Dev Disord 2016 Jun;46(6):2126-37. doi: 10.1007/s10803-016-2741-5. PMID: 26883647

Diagnosis

Bennett JA, Hodgetts S, Mackenzie ML, Haqq AM, Zwaigenbaum L
Int J Mol Sci 2017 Feb 28;18(3) doi: 10.3390/ijms18030517. PMID: 28264487Free PMC Article
Even-Zohar Gross N, Geva-Eldar T, Pollak Y, Hirsch HJ, Gross I, Gross-Tsur V
Eur J Med Genet 2017 Apr;60(4):205-211. Epub 2017 Jan 22 doi: 10.1016/j.ejmg.2017.01.003. PMID: 28119110
Grugni G, Marzullo P
Best Pract Res Clin Endocrinol Metab 2016 Dec;30(6):785-794. Epub 2016 Nov 9 doi: 10.1016/j.beem.2016.11.003. PMID: 27974191
Hassan M, Butler MG
Eur J Med Genet 2016 Nov;59(11):584-589. Epub 2016 Sep 19 doi: 10.1016/j.ejmg.2016.09.017. PMID: 27659713
Hurren BJ, Flack NA
Clin Anat 2016 Jul;29(5):590-605. Epub 2016 Jan 29 doi: 10.1002/ca.22686. PMID: 26749552

Therapy

Miller JL, Tamura R, Butler MG, Kimonis V, Sulsona C, Gold JA, Driscoll DJ
Am J Med Genet A 2017 May;173(5):1243-1250. Epub 2017 Mar 30 doi: 10.1002/ajmg.a.38160. PMID: 28371242
Grugni G, Marzullo P
Best Pract Res Clin Endocrinol Metab 2016 Dec;30(6):785-794. Epub 2016 Nov 9 doi: 10.1016/j.beem.2016.11.003. PMID: 27974191
Butler MG, Lee J, Cox DM, Manzardo AM, Gold JA, Miller JL, Roof E, Dykens E, Kimonis V, Driscoll DJ
Clin Pediatr (Phila) 2016 Sep;55(10):957-74. Epub 2016 Feb 3 doi: 10.1177/0009922815617973. PMID: 26842920
Bonnot O, Cohen D, Thuilleaux D, Consoli A, Cabal S, Tauber M
Eur J Pediatr 2016 Jan;175(1):9-18. Epub 2015 Nov 19 doi: 10.1007/s00431-015-2670-x. PMID: 26584571
Matsubara K, Murakami N, Fukami M, Kagami M, Nagai T, Ogata T
Clin Genet 2016 May;89(5):614-9. Epub 2015 Dec 10 doi: 10.1111/cge.12691. PMID: 26526156

Prognosis

Tauber M, Boulanouar K, Diene G, Çabal-Berthoumieu S, Ehlinger V, Fichaux-Bourin P, Molinas C, Faye S, Valette M, Pourrinet J, Cessans C, Viaux-Sauvelon S, Bascoul C, Guedeney A, Delhanty P, Geenen V, Martens H, Muscatelli F, Cohen D, Consoli A, Payoux P, Arnaud C, Salles JP
Pediatrics 2017 Feb;139(2) doi: 10.1542/peds.2016-2976. PMID: 28100688
Shivers CM, Leonczyk CL, Dykens EM
J Autism Dev Disord 2016 Jun;46(6):2126-37. doi: 10.1007/s10803-016-2741-5. PMID: 26883647
Hurren BJ, Flack NA
Clin Anat 2016 Jul;29(5):590-605. Epub 2016 Jan 29 doi: 10.1002/ca.22686. PMID: 26749552
Johnson L, Manzardo AM, Miller JL, Driscoll DJ, Butler MG
Am J Med Genet A 2016 Mar;170(3):594-601. Epub 2015 Nov 30 doi: 10.1002/ajmg.a.37488. PMID: 26615966
Hirsch HJ, Eldar-Geva T, Bennaroch F, Pollak Y, Gross-Tsur V
Hum Reprod 2015 Nov;30(11):2587-96. Epub 2015 Sep 6 doi: 10.1093/humrep/dev213. PMID: 26345685

Clinical prediction guides

Orsso CE, Mackenzie M, Alberga AS, Sharma AM, Richer L, Rubin DA, Prado CM, Haqq AM
Metabolism 2017 Apr;69:67-75. Epub 2017 Jan 16 doi: 10.1016/j.metabol.2017.01.020. PMID: 28285653
Bennett JA, Hodgetts S, Mackenzie ML, Haqq AM, Zwaigenbaum L
Int J Mol Sci 2017 Feb 28;18(3) doi: 10.3390/ijms18030517. PMID: 28264487Free PMC Article
Saeves R, Klinge RF, Risnes S
Arch Oral Biol 2016 Jun;66:55-60. Epub 2016 Feb 12 doi: 10.1016/j.archoralbio.2016.02.008. PMID: 26913968
Shivers CM, Leonczyk CL, Dykens EM
J Autism Dev Disord 2016 Jun;46(6):2126-37. doi: 10.1007/s10803-016-2741-5. PMID: 26883647
Hurren BJ, Flack NA
Clin Anat 2016 Jul;29(5):590-605. Epub 2016 Jan 29 doi: 10.1002/ca.22686. PMID: 26749552

Recent systematic reviews

Martínez Michel L, Haqq AM, Wismer WV
Appetite 2016 Apr 1;99:17-24. Epub 2015 Dec 20 doi: 10.1016/j.appet.2015.12.021. PMID: 26713776
Bonnot O, Cohen D, Thuilleaux D, Consoli A, Cabal S, Tauber M
Eur J Pediatr 2016 Jan;175(1):9-18. Epub 2015 Nov 19 doi: 10.1007/s00431-015-2670-x. PMID: 26584571
Bennett JA, Germani T, Haqq AM, Zwaigenbaum L
Am J Med Genet A 2015 Dec;167A(12):2936-44. Epub 2015 Aug 29 doi: 10.1002/ajmg.a.37286. PMID: 26331980
Sedky K, Bennett DS, Pumariega A
J Clin Sleep Med 2014 Apr 15;10(4):403-9. doi: 10.5664/jcsm.3616. PMID: 24733986Free PMC Article
Deal CL, Tony M, Höybye C, Allen DB, Tauber M, Christiansen JS; 2011 Growth Hormone in Prader-Willi Syndrome Clinical Care Guidelines Workshop Participants.
J Clin Endocrinol Metab 2013 Jun;98(6):E1072-87. Epub 2013 Mar 29 doi: 10.1210/jc.2012-3888. PMID: 23543664Free PMC Article

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