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22q13.3 deletion syndrome(PHMDS)

MedGen UID:
339994
Concept ID:
C1853490
Disease or Syndrome
Synonyms: Chromosome 22q13.3 deletion syndrome; Monosomy 22q13; Phelan-McDermid syndrome; PHMDS; TELOMERIC 22q13 MONOSOMY SYNDROME
Modes of inheritance:
Sporadic
MedGen UID:
342827
Concept ID:
C1853237
Finding
Source: HPO
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.
Sporadic (HPO)
SNOMED CT: Phelan-McDermid syndrome (699310000); 22q13.3 deletion syndrome (699310000); Monosomy 22q13 (699310000)
 
Gene (location): SHANK3 (22q13.33)
OMIM®: 606232
Orphanet: ORPHA48652

Disease characteristics

Excerpted from the GeneReview: Phelan-McDermid Syndrome
Phelan-McDermid syndrome (22q13.3 deletion syndrome) is characterized by neonatal hypotonia, global developmental delay, absent to severely delayed speech, and normal to accelerated growth. Most individuals have moderate to profound intellectual disability. Other features include large fleshy hands, dysplastic toenails, and decreased perspiration that results in a tendency to overheat. Behavior characteristics include mouthing or chewing non-food items, decreased perception of pain, and autistic-like affect. [from GeneReviews]
Authors:
Katy Phelan  |  R Curtis Rogers   view full author information

Additional descriptions

From OMIM
Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see 209850), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).  http://www.omim.org/entry/606232
From GHR
22q13.3 deletion syndrome, which is also commonly known as Phelan-McDermid syndrome, is a disorder caused by the loss of a small piece of chromosome 22. The deletion occurs near the end of the chromosome at a location designated q13.3.The features of 22q13.3 deletion syndrome vary widely and involve many parts of the body. Characteristic signs and symptoms include developmental delay, moderate to profound intellectual disability, decreased muscle tone (hypotonia), and absent or delayed speech. Some people with this condition have autism or autistic-like behavior that affects communication and social interaction, such as poor eye contact, sensitivity to touch, and aggressive behaviors. They may also chew on non-food items such as clothing. Less frequently, people with this condition have seizures.Individuals with 22q13.3 deletion syndrome tend to have a decreased sensitivity to pain. Many also have a reduced ability to sweat, which can lead to a greater risk of overheating and dehydration. Some people with this condition have episodes of frequent vomiting and nausea (cyclic vomiting) and backflow of stomach acids into the esophagus (gastroesophageal reflux).People with 22q13.3 deletion syndrome typically have distinctive facial features, including a long, narrow head; prominent ears; a pointed chin; droopy eyelids (ptosis); and deep-set eyes. Other physical features seen with this condition include large and fleshy hands and/or feet, a fusion of the second and third toes (syndactyly), and small or abnormal toenails. Some affected individuals have rapid (accelerated) growth.  http://ghr.nlm.nih.gov/condition/22q133-deletion-syndrome

Clinical features

Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
Persistent patency of the ductus arteriosus, or patent ductus arteriosus (PDA), is the second most common congenital heart disease, affecting approximately 1 in 1,600 to 5,000 live births in the U.S. (Mitchell et al., 1971). In fetal life, the ductus arteriosus, a muscular artery, shunts blood from the pulmonary artery to the aorta, bypassing the lungs. Its abrupt closure at birth establishes the mature circulatory pattern and represents a dramatic example of vascular remodeling. Failure of this normal process results in persistent PDA, which left untreated can result in pulmonary hypertension and heart failure. Closure of the ductus is a complex process. Aspects of this process are regulated by oxygen tension and a decrease in levels of hormones such as prostaglandin E2. PDA occurring in preterm infants often closes spontaneously or in response to inhibitors of prostaglandin biosynthesis (Ramsay et al., 1987). Term PDA typically has not been regarded as a genetic disorder, because it most often occurs sporadically. Nonetheless, term PDA recurs among 5% of sibs of PDA cases (Polani and Campbell, 1960; Lamy et al., 1957), suggesting a genetic component to disease pathogenesis that has typically been presumed to be multifactorial. That single genes can influence this trait has been demonstrated by a mouse model of PDA resulting from disruption of the prostaglandin E2 receptor (Nguyen et al., 1997) and by rare syndromic forms of PDA such as Char syndrome (169100), an autosomal dominant disorder caused by mutations in the transcription factor TFAP2B (601601) (Mani et al., 2002). Genetic Heterogeneity of Patent Ductus Arteriosus Autosomal dominant forms of patent ductus arteriosus include PDA2 (617035), caused by mutation in the TFAP2B gene (601601) on chromosome 6p12, and PDA3 (617039), caused by mutation in the PRDM6 gene (616982) on chromosome 5q23. Hajj and Dagle (2012) reviewed the genetics of patent ductus arteriosus in both term and preterm infants, and discussed possible environmental risk factors as well as animal models of PDA.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Anatomical Abnormality
Developmental abnormalities in any portion of the VENTRICULAR SEPTUM resulting in abnormal communications between the two lower chambers of the heart. Classification of ventricular septal defects is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect.
Ptosis of eyelid
MedGen UID:
2287
Concept ID:
C0005745
Anatomical Abnormality
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Enophthalmos
MedGen UID:
8638
Concept ID:
C0014306
Disease or Syndrome
An eye that is more deeply recessed into the plane of the face than is typical.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other.
Cortical blindness
MedGen UID:
57834
Concept ID:
C0155320
Disease or Syndrome
Total loss of vision in all or part of the visual field due to bilateral OCCIPITAL LOBE (i.e., VISUAL CORTEX) damage or dysfunction. Anton syndrome is characterized by the psychic denial of true, organic cortical blindness. (Adams et al., Principles of Neurology, 6th ed, p460)
Polycystic kidney dysplasia
MedGen UID:
9639
Concept ID:
C0022680
Disease or Syndrome
The presence of multiple cysts in both kidneys.
Vesicoureteral reflux 1
MedGen UID:
21852
Concept ID:
C0042580
Disease or Syndrome
Vesicoureteral reflux (VUR) is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys. It is a risk factor for urinary tract infections. Primary VUR results from a developmental defect of the ureterovesical junction (UVJ). In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy (RN). Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, and renal insufficiency (summary by Lu et al., 2007). Genetic Heterogeneity of Vesicoureteral Reflux A locus designated VUR1 maps to chromosome 1p13. VUR2 (610878) is caused by mutation in the ROBO2 gene (602431) on chromosome 3p12.3; VUR3 (613674) is caused by mutation in the SOX17 gene (610928) on chromosome 8q11.23; VUR4 (614317) maps to chromosome 5; VUR5 (614318) maps to chromosome 13; VUR6 (614319) maps to chromosome 18; VUR7 (615390) maps to chromosome 12; and VUR8 (615963) is caused by mutation in the TNXB gene (600985) on chromosome 6p21. A possible X-linked form has been reported (VURX; 314550).
Large hands
MedGen UID:
98097
Concept ID:
C0426870
Finding
2-3 toe cutaneous syndactyly
MedGen UID:
98470
Concept ID:
C0432040
Congenital Abnormality
Syndactyly with fusion of toes two and three.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
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.
Tall stature
MedGen UID:
69137
Concept ID:
C0241240
Finding
Height greater than two standard deviations above the mean of the appropriate reference population for the age and sex of the individual.
Deafness
MedGen UID:
4155
Concept ID:
C0011053
Finding
A decreased magnitude of the sensory perception of sound.
Macrotia
MedGen UID:
488785
Concept ID:
C0152421
Congenital Abnormality
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Prominent ear
MedGen UID:
266284
Concept ID:
C1305420
Congenital Abnormality
Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Aggressive behavior
MedGen UID:
1375
Concept ID:
C0001807
Mental or Behavioral Dysfunction
Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.
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.
Behavioral Symptoms
MedGen UID:
14048
Concept ID:
C0004941
Sign or Symptom
An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
Bruxism
MedGen UID:
676
Concept ID:
C0006325
Pathologic Function
Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep.
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.
Delayed language development
MedGen UID:
9676
Concept ID:
C0023012
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Microcephalus
MedGen UID:
44422
Concept ID:
C0025958
Congenital Abnormality
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Moderate mental retardation (I.Q. 35-49)
MedGen UID:
7680
Concept ID:
C0026351
Mental or Behavioral Dysfunction
Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
Neurological speech impairment
MedGen UID:
11531
Concept ID:
C0037822
Disease or Syndrome
A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders.
Arachnoid cyst
MedGen UID:
86860
Concept ID:
C0078981
Disease or Syndrome
Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with HYDROCEPHALUS; HEADACHE; SEIZURES; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)
Unsteady gait
MedGen UID:
68544
Concept ID:
C0231686
Finding
A shaky or wobbly manner of walking.
Brain atrophy
MedGen UID:
116012
Concept ID:
C0235946
Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Cognitive impairment
MedGen UID:
90932
Concept ID:
C0338656
Mental or Behavioral Dysfunction
a condition where a person has problems with the ability to think and learn
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
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.
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Sign or Symptom
Reduction of neurologic reflexes such as the knee-jerk reaction.
Broad-based gait
MedGen UID:
167799
Concept ID:
C0856863
Finding
An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.
Poor eye contact
MedGen UID:
303190
Concept ID:
C1445953
Finding
Difficulty in looking at another person in the eye.
Tongue thrusting
MedGen UID:
473491
Concept ID:
C1829460
Finding
Impaired pain sensation
MedGen UID:
373348
Concept ID:
C1837522
Finding
Reduced ability to perceive painful stimuli.
Hyperorality
MedGen UID:
325386
Concept ID:
C1838320
Finding
A tendency or compulsion to examine objects by mouth.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Hypoplasia or absence of the corpus callosum
MedGen UID:
354608
Concept ID:
C1861866
Finding
Absence or underdevelopment of the corpus callosum.
Abnormality of the periventricular white matter
MedGen UID:
435926
Concept ID:
C2673431
Finding
Dilated ventricles (finding)
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
Delayed CNS myelination
MedGen UID:
867393
Concept ID:
C4021758
Anatomical Abnormality
Delayed myelination in the central nervous system.
Gastroesophageal reflux disease
MedGen UID:
6553
Concept ID:
C0017168
Disease or Syndrome
Gastroesophageal reflux (GER) is characterized by the retrograde movement of stomach contents into the esophagus. In its most severe form, GER results in extensive tissue damage caused by acid reflux. In adolescents and adults, and even infrequently in children, chronic GER is associated with the risk of developing Barrett metaplasia (614266), a premalignant lesion of the esophageal mucosa (Hu et al., 2000). In turn, Barrett metaplasia is correlated with the development of adenocarcinoma of the esophagus (see 614266), estimated as the fifth most prevalent neoplasia in the Western world (Lagergren et al., 1999).
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Episodic vomiting
MedGen UID:
333228
Concept ID:
C1838993
Finding
Paroxysmal, recurrent episodes of vomiting.
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Neonatal hypotonia
MedGen UID:
412209
Concept ID:
C2267233
Disease or Syndrome
Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
Abnormality of immune system physiology
MedGen UID:
869194
Concept ID:
C4023616
Pathologic Function
A functional abnormality of the immune system.
Lymphoedema
MedGen UID:
6155
Concept ID:
C0024236
Disease or Syndrome
Lymphedema is the name of a type of swelling. It happens when lymph builds up in your body's soft tissues. Lymph is a fluid that contains white blood cells that defend against germs. It can build up when the lymph system is damaged or blocked. It usually happens in the arms or legs. Causes of lymphedema include. -Infection. -Cancer. -Scar tissue from radiation therapy or surgical removal of lymph nodes. -Inherited conditions in which lymph nodes or vessels are absent or abnormal. Treatment can help control symptoms. It includes exercise, compression devices, skin care, and massage. NIH: National Cancer Institute.
Palpebral edema
MedGen UID:
57877
Concept ID:
C0162285
Finding
Edema in the region of the eyelids.
Heat intolerance
MedGen UID:
66659
Concept ID:
C0231274
Pathologic Function
The inability to maintain a comfortably body temperature in warm or hot weather.
Microcephalus
MedGen UID:
44422
Concept ID:
C0025958
Congenital Abnormality
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Long narrow head
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.
Sacral dimple
MedGen UID:
98428
Concept ID:
C0426848
Finding
A sacral dimple, or pilonidal dimple, is a small hollow area or sinus present at birth and located just above the crease of the buttocks. In most cases, pilonidal dimples are benign and may just be accompanied by increased hair growth in the area.
2-3 toe cutaneous syndactyly
MedGen UID:
98470
Concept ID:
C0432040
Congenital Abnormality
Syndactyly with fusion of toes two and three.
Accelerated skeletal maturation
MedGen UID:
154262
Concept ID:
C0545053
Finding
An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Anatomical Abnormality
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).
Enophthalmos
MedGen UID:
8638
Concept ID:
C0014306
Disease or Syndrome
An eye that is more deeply recessed into the plane of the face than is typical.
Dental malocclusion
MedGen UID:
9869
Concept ID:
C0024636
Anatomical Abnormality
Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.
Microcephalus
MedGen UID:
44422
Concept ID:
C0025958
Congenital Abnormality
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Tooth malformation
MedGen UID:
11849
Concept ID:
C0040427
Congenital Abnormality
Congenital absence of or defects in structures of the teeth.
Palpebral edema
MedGen UID:
57877
Concept ID:
C0162285
Finding
Edema in the region of the eyelids.
Long narrow head
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.
Bulbous nose
MedGen UID:
66013
Concept ID:
C0240543
Finding
Increased volume and globular shape of the anteroinferior aspect of the nose.
Byzanthine arch palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Concave nasal ridge
MedGen UID:
78105
Concept ID:
C0264169
Finding
Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Short chin
MedGen UID:
333295
Concept ID:
C1839323
Finding
Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.
Broad flat nasal bridge
MedGen UID:
326959
Concept ID:
C1839764
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Prominent supraorbital ridges
MedGen UID:
333982
Concept ID:
C1842060
Finding
Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.
Pointed chin
MedGen UID:
336193
Concept ID:
C1844505
Finding
A marked tapering of the lower face to the chin.
Bushy eyebrows
MedGen UID:
377914
Concept ID:
C1853487
Finding
Increased density/number and/or increased diameter of eyebrow hairs.
Long eyelashes
MedGen UID:
342955
Concept ID:
C1853738
Finding
Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Anatomical Abnormality
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Full cheeks
MedGen UID:
355661
Concept ID:
C1866231
Finding
Increased prominence or roundness of soft tissues between zygomata and mandible.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).
Abnormality of the eyelashes
MedGen UID:
382526
Concept ID:
C2675111
Finding
An abnormality of the eyelashes.
Abnormal nasal morphology
MedGen UID:
870795
Concept ID:
C4025252
Anatomical Abnormality
Cellulitis
MedGen UID:
40174
Concept ID:
C0007642
Finding
Cellulitis is an infection of the skin and deep underlying tissues. Group A strep (streptococcal) bacteria are the most common cause. The bacteria enter your body when you get an injury such as a bruise, burn, surgical cut, or wound. Symptoms include. -Fever and chills. -Swollen glands or lymph nodes. -A rash with painful, red, tender skin. The skin may blister and scab over. Your health care provider may take a sample or culture from your skin or do a blood test to identify the bacteria causing infection. Treatment is with antibiotics. They may be oral in mild cases, or intravenous (through the vein) for more severe cases. NIH: National Institute of Allergy and Infectious Diseases.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Hyphidrosis
MedGen UID:
43796
Concept ID:
C0020620
Disease or Syndrome
Abnormally diminished capacity to sweat.
Sacral dimple
MedGen UID:
98428
Concept ID:
C0426848
Finding
A sacral dimple, or pilonidal dimple, is a small hollow area or sinus present at birth and located just above the crease of the buttocks. In most cases, pilonidal dimples are benign and may just be accompanied by increased hair growth in the area.
Hypoplastic toenails
MedGen UID:
332409
Concept ID:
C1837279
Finding
Underdevelopment of the toenail.
Bushy eyebrows
MedGen UID:
377914
Concept ID:
C1853487
Finding
Increased density/number and/or increased diameter of eyebrow hairs.
Long eyelashes
MedGen UID:
342955
Concept ID:
C1853738
Finding
Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).
Abnormality of the eyelashes
MedGen UID:
382526
Concept ID:
C2675111
Finding
An abnormality of the eyelashes.
Toenail dysplasia
MedGen UID:
478253
Concept ID:
C3276623
Finding
An abnormality of the development of the toenails.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV22q13.3 deletion syndrome
Follow this link to review classifications for 22q13.3 deletion syndrome in Orphanet.

Professional guidelines

PubMed

Phelan K, Betancur C
Eur J Hum Genet 2011 Apr;19(4) Epub 2010 Dec 8 doi: 10.1038/ejhg.2010.193. [Epub ahead of print] PMID: 21150887Free PMC Article

Recent clinical studies

Etiology

Bosch DG, Boonstra FN, Reijnders MR, Pfundt R, Cremers FP, de Vries BB
Eur J Paediatr Neurol 2014 Nov;18(6):677-84. Epub 2014 May 22 doi: 10.1016/j.ejpn.2014.05.002. [Epub ahead of print] PMID: 24912731
Verhoeven WM, Egger JI, Cohen-Snuijf R, Kant SG, de Leeuw N
Am J Med Genet A 2013 Jan;161A(1):158-61. Epub 2012 Nov 19 doi: 10.1002/ajmg.a.35597. [Epub ahead of print] PMID: 23166010
Uchino S, Waga C
Brain Dev 2013 Feb;35(2):106-10. Epub 2012 Jun 29 doi: 10.1016/j.braindev.2012.05.013. [Epub ahead of print] PMID: 22749736
Waga C, Okamoto N, Ondo Y, Fukumura-Kato R, Goto Y, Kohsaka S, Uchino S
Psychiatr Genet 2011 Aug;21(4):208-11. doi: 10.1097/YPG.0b013e328341e069. PMID: 21378602
Philippe A, Boddaert N, Vaivre-Douret L, Robel L, Danon-Boileau L, Malan V, de Blois MC, Heron D, Colleaux L, Golse B, Zilbovicius M, Munnich A
Pediatrics 2008 Aug;122(2):e376-82. Epub 2008 Jul 14 doi: 10.1542/peds.2007-2584. [Epub ahead of print] PMID: 18625665

Diagnosis

Costales JL, Kolevzon A
Neurotherapeutics 2015 Jul;12(3):620-30. doi: 10.1007/s13311-015-0352-z. PMID: 25894671Free PMC Article
Bosch DG, Boonstra FN, Reijnders MR, Pfundt R, Cremers FP, de Vries BB
Eur J Paediatr Neurol 2014 Nov;18(6):677-84. Epub 2014 May 22 doi: 10.1016/j.ejpn.2014.05.002. [Epub ahead of print] PMID: 24912731
Disciglio V, Lo Rizzo C, Mencarelli MA, Mucciolo M, Marozza A, Di Marco C, Massarelli A, Canocchi V, Baldassarri M, Ndoni E, Frullanti E, Amabile S, Anderlid BM, Metcalfe K, Le Caignec C, David A, Fryer A, Boute O, Joris A, Greco D, Pecile V, Battini R, Novelli A, Fichera M, Romano C, Mari F, Renieri A
Am J Med Genet A 2014 Jul;164A(7):1666-76. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36513. [Epub ahead of print] PMID: 24700646
Philippe A, Boddaert N, Vaivre-Douret L, Robel L, Danon-Boileau L, Malan V, de Blois MC, Heron D, Colleaux L, Golse B, Zilbovicius M, Munnich A
Pediatrics 2008 Aug;122(2):e376-82. Epub 2008 Jul 14 doi: 10.1542/peds.2007-2584. [Epub ahead of print] PMID: 18625665
Cusmano-Ozog K, Manning MA, Hoyme HE
Am J Med Genet C Semin Med Genet 2007 Nov 15;145C(4):393-8. doi: 10.1002/ajmg.c.30155. PMID: 17926345

Therapy

Verhoeven WM, Egger JI, Cohen-Snuijf R, Kant SG, de Leeuw N
Am J Med Genet A 2013 Jan;161A(1):158-61. Epub 2012 Nov 19 doi: 10.1002/ajmg.a.35597. [Epub ahead of print] PMID: 23166010
Pasini A, D'Agati E, Casarelli L, Curatolo P
Brain Dev 2010 May;32(5):425-7. Epub 2009 May 9 doi: 10.1016/j.braindev.2009.04.005. [Epub ahead of print] PMID: 19428206

Prognosis

Figura MG, Coppola A, Bottitta M, Calabrese G, Grillo L, Luciano D, Del Gaudio L, Torniero C, Striano S, Elia M
Seizure 2014 Oct;23(9):774-9. Epub 2014 Jul 1 doi: 10.1016/j.seizure.2014.06.008. [Epub ahead of print] PMID: 25027555
Verhoeven WM, Egger JI, Cohen-Snuijf R, Kant SG, de Leeuw N
Am J Med Genet A 2013 Jan;161A(1):158-61. Epub 2012 Nov 19 doi: 10.1002/ajmg.a.35597. [Epub ahead of print] PMID: 23166010
Philippe A, Boddaert N, Vaivre-Douret L, Robel L, Danon-Boileau L, Malan V, de Blois MC, Heron D, Colleaux L, Golse B, Zilbovicius M, Munnich A
Pediatrics 2008 Aug;122(2):e376-82. Epub 2008 Jul 14 doi: 10.1542/peds.2007-2584. [Epub ahead of print] PMID: 18625665

Clinical prediction guides

Bosch DG, Boonstra FN, Reijnders MR, Pfundt R, Cremers FP, de Vries BB
Eur J Paediatr Neurol 2014 Nov;18(6):677-84. Epub 2014 May 22 doi: 10.1016/j.ejpn.2014.05.002. [Epub ahead of print] PMID: 24912731
Jehee FS, Takamori JT, Medeiros PF, Pordeus AC, Latini FR, Bertola DR, Kim CA, Passos-Bueno MR
Eur J Med Genet 2011 Jul-Aug;54(4):e425-32. Epub 2011 Mar 30 doi: 10.1016/j.ejmg.2011.03.007. [Epub ahead of print] PMID: 21457803
Pasini A, D'Agati E, Casarelli L, Curatolo P
Brain Dev 2010 May;32(5):425-7. Epub 2009 May 9 doi: 10.1016/j.braindev.2009.04.005. [Epub ahead of print] PMID: 19428206
Cusmano-Ozog K, Manning MA, Hoyme HE
Am J Med Genet C Semin Med Genet 2007 Nov 15;145C(4):393-8. doi: 10.1002/ajmg.c.30155. PMID: 17926345
Battini R, Battaglia A, Bertini V, Cioni G, Parrini B, Rapalini E, Simi P, Tinelli F, Valetto A
Am J Med Genet A 2004 Oct 1;130A(2):196-9. doi: 10.1002/ajmg.a.30276. PMID: 15372517

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