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5p partial monosomy syndrome

MedGen UID:
41345
Concept ID:
C0010314
Congenital Abnormality; Disease or Syndrome
Synonyms: 5p deletion syndrome; 5p minus syndrome; 5p- syndrome; Cat cry syndrome; Chromosome 5p deletion syndrome; Chromosome 5p- syndrome; Cri du Chat Syndrome; Monosomy 5p
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.
Sporadic (HPO, OMIM)
SNOMED CT: 5p partial monosomy syndrome (70173007); Cri du chat syndrome (70173007); Lejeune syndrome (70173007); 5p minus syndrome (70173007); Partial deletion of short arm of chromosome 5 syndrome (70173007); Deletion of short arm of chromosome 5 (70173007)
 
OMIM®: 123450

Definition

Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents. [from OMIM]

Additional description

From GHR
Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face. Some children with cri-du-chat syndrome are born with a heart defect.  https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome

Clinical features

Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Congenital Abnormality
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
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.
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
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.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Acquired Abnormality
A cataract is a clouding of the lens in your eye. It affects your vision. Cataracts are very common in older people. By age 80, more than half of all Americans either have a cataract or have had cataract surgery. A cataract can occur in either or both eyes. It cannot spread from one eye to the other. Common symptoms are. -Blurry vision. -Colors that seem faded. -Glare - headlights, lamps or sunlight may seem too bright. You may also see a halo around lights. -Not being able to see well at night. -Double vision . -Frequent prescription changes in your eye wear . Cataracts usually develop slowly. New glasses, brighter lighting, anti-glare sunglasses or magnifying lenses can help at first. Surgery is also an option. It involves removing the cloudy lens and replacing it with an artificial lens. Wearing sunglasses and a hat with a brim to block ultraviolet sunlight may help to delay cataracts. NIH: National Eye Institute.
Pes planus
MedGen UID:
42034
Concept ID:
C0016202
Anatomical Abnormality
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
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 \
Toeing-in
MedGen UID:
534039
Concept ID:
C0231791
Finding
The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.
Single transverse palmar crease
MedGen UID:
96108
Concept ID:
C0424731
Finding
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Finding
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Short metatarsal
MedGen UID:
341358
Concept ID:
C1849020
Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
High axial triradius
MedGen UID:
425026
Concept ID:
CN000977
Finding
Abnormality of cardiovascular system morphology
MedGen UID:
892473
Concept ID:
C4049796
Congenital Abnormality
Any structural anomaly of the heart and great vessels.
Small for gestational age
MedGen UID:
7064
Concept ID:
C0021288
Patient or Disabled Group
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
Growth delay
MedGen UID:
765377
Concept ID:
C3552463
Finding
A deficiency or slowing down of growth pre- and postnatally.
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).
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
An abdominal hernia with an external bulge in the GROIN region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the ABDOMINAL WALL (transversalis fascia) in Hesselbach's triangle. The former type is commonly seen in children and young adults; the latter in adults.
Diastasis recti
MedGen UID:
113171
Concept ID:
C0221766
Anatomical Abnormality
A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Hearing impairment
MedGen UID:
5453
Concept ID:
C0018772
Finding
A decreased magnitude of the sensory perception of sound.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Narrowing of ear canal
MedGen UID:
108282
Concept ID:
C0576860
Finding
An abnormal narrowing of the external auditory canal.
Auricular malformation
MedGen UID:
167800
Concept ID:
C0857379
Congenital Abnormality
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Aggressive behavior
MedGen UID:
1375
Concept ID:
C0001807
Individual Behavior
Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.
Anxiety
MedGen UID:
1613
Concept ID:
C0003467
Finding
Fear and anxiety are part of life. You may feel anxious before you take a test or walk down a dark street. This kind of anxiety is useful - it can make you more alert or careful. It usually ends soon after you are out of the situation that caused it. But for millions of people in the United States, the anxiety does not go away, and gets worse over time. They may have chest pains or nightmares. They may even be afraid to leave home. These people have anxiety disorders. Types include. -Panic disorder . -Obsessive-compulsive disorder . -Post-traumatic stress disorder . -Phobias . -Generalized anxiety disorder . Treatment can involve medicines, therapy or both. NIH: National Institute of Mental Health .
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.
Echolalia
MedGen UID:
8532
Concept ID:
C0013528
Mental or Behavioral Dysfunction
Involuntary ("parrot-like"), meaningless repetition of a recently heard word, phrase, or song. This condition may be associated with transcortical APHASIA; SCHIZOPHRENIA; or other disorders. (From Adams et al., Principles of Neurology, 6th ed, p485)
Hypertonia
MedGen UID:
10132
Concept ID:
C0026826
Finding
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Oppositional defiant disorder
MedGen UID:
18178
Concept ID:
C0029121
Mental or Behavioral Dysfunction
An enduring pattern of uncooperative, defiant, and hostile behavior toward authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents.
Hyperacusis
MedGen UID:
20497
Concept ID:
C0034880
Sign or Symptom
Over-sensitivity to certain frequency ranges of sound.
Self-mutilation
MedGen UID:
19925
Concept ID:
C0036601
Injury or Poisoning
Deliberate self-injurious behavior causing tissue damage with the intent of causing nonfatal injury to attain relief of tension
Stereotyped routines
MedGen UID:
21318
Concept ID:
C0038271
Mental or Behavioral Dysfunction
A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral.
Short attention span
MedGen UID:
82652
Concept ID:
C0262630
Finding
Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder.
Difficulty walking
MedGen UID:
86319
Concept ID:
C0311394
Finding
We walk thousands of steps each day. We walk to do our daily activities, get around, and exercise. Having a problem with walking can make daily life more difficult. . The pattern of how you walk is called your gait. A variety of problems can cause an abnormal gait and lead to problems with walking. These include: . -Injuries, diseases, or abnormal development of the muscles or bones of your legs or feet. -Movement disorders such as Parkinson's disease. -Diseases such as arthritis or multiple sclerosis. -Vision or balance problems. Treatment of walking problems depends on the cause. Physical therapy, surgery, or mobility aids may help.
Hyperactivity
MedGen UID:
98406
Concept ID:
C0424295
Finding
Excessive movement of muscles of the body as a whole, which may be associated with organic or psychological disorders.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
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.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Sign or Symptom
A degree of language development that is significantly below the norm for a child of a specified age.
Intellectual functioning 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 disabiled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Conspicuously happy disposition
MedGen UID:
866682
Concept ID:
C4021029
Finding
An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger.
Overfriendliness
MedGen UID:
451419
Concept ID:
CN116924
Finding
A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction.
Functional respiratory abnormality
MedGen UID:
871200
Concept ID:
C4025677
Finding
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).
Kidney disease
MedGen UID:
9635
Concept ID:
C0022658
Disease or Syndrome
Your kidneys are two bean-shaped organs, each about the size of your fists. They are located near the middle of your back, just below the rib cage. Inside each kidney about a million tiny structures called nephrons filter blood. They remove waste products and extra water, which become urine. The urine flows through tubes called ureters to your bladder, which stores the urine until you go to the bathroom. . Most kidney diseases attack the nephrons. This damage may leave kidneys unable to remove wastes. Causes can include genetic problems, injuries, or medicines. You are at greater risk for kidney disease if you have diabetes, high blood pressure, or a close family member with kidney disease. Chronic kidney disease damages the nephrons slowly over several years. Other kidney problems include:. -Cancer. -Cysts. -Stones. -Infections. Your doctor can run tests to find out if you have kidney disease. If your kidneys fail completely, a kidney transplant or dialysis can replace the work your kidneys normally do. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Hypospadias
MedGen UID:
305577
Concept ID:
C1691215
Congenital Abnormality
Location of the urethral opening on the inferior aspect of the penis.
Hypertonia
MedGen UID:
10132
Concept ID:
C0026826
Finding
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Diastasis recti
MedGen UID:
113171
Concept ID:
C0221766
Anatomical Abnormality
A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).
Difficulty walking
MedGen UID:
86319
Concept ID:
C0311394
Finding
We walk thousands of steps each day. We walk to do our daily activities, get around, and exercise. Having a problem with walking can make daily life more difficult. . The pattern of how you walk is called your gait. A variety of problems can cause an abnormal gait and lead to problems with walking. These include: . -Injuries, diseases, or abnormal development of the muscles or bones of your legs or feet. -Movement disorders such as Parkinson's disease. -Diseases such as arthritis or multiple sclerosis. -Vision or balance problems. Treatment of walking problems depends on the cause. Physical therapy, surgery, or mobility aids may help.
Neonatal hypotonia
MedGen UID:
412209
Concept ID:
C2267233
Disease or Syndrome
Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
Recurrent infections in infancy and early childhood
MedGen UID:
336812
Concept ID:
C1844909
Finding
Recurrent infections at an early age with improvement in later childhood.
Cat cry
MedGen UID:
536297
Concept ID:
C0234861
Sign or Symptom
The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten.
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 \
Toeing-in
MedGen UID:
534039
Concept ID:
C0231791
Finding
The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
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.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Finding
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Microretrognathia
MedGen UID:
326907
Concept ID:
C1839546
Finding
A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.
Short metatarsal
MedGen UID:
341358
Concept ID:
C1849020
Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Congenital Abnormality
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Cleft lip/palate
MedGen UID:
57640
Concept ID:
C0158646
Finding
Cleft lip and cleft palate are birth defects that occur when a baby's lip or mouth do not form properly. They happen early during pregnancy. A baby can have a cleft lip, a cleft palate, or both. A cleft lip happens if the tissue that makes up the lip does not join completely before birth. This causes an opening in the upper lip. The opening can be a small slit or a large opening that goes through the lip into the nose. It can be on one or both sides of the lip or, rarely, in the middle of the lip. Children with a cleft lip also can have a cleft palate. The roof of the mouth is called the palate. With a cleft palate, the tissue that makes up the roof of the mouth does not join correctly. Babies may have both the front and back parts of the palate open, or they may have only one part open. Children with a cleft lip or a cleft palate often have problems with feeding and talking. They also might have ear infections, hearing loss, and problems with their teeth. Often, surgery can close the lip and palate. Cleft lip surgery is usually done before age 12 months, and cleft palate surgery is done before 18 months. Many children have other complications. They may need additional surgeries, dental and orthodontic care, and speech therapy as they get older. With treatment, most children with clefts do well and lead a healthy life. Centers for Disease Control and Prevention.
Facial grimacing
MedGen UID:
65891
Concept ID:
C0234853
Finding
High 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).
Cleft uvula
MedGen UID:
75600
Concept ID:
C0266122
Congenital Abnormality
Uvula separated into two parts most easily seen at the tip.
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
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.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
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).
Facial asymmetry
MedGen UID:
266298
Concept ID:
C1306710
Finding
An abnormal difference between the left and right sides of the face.
Long face
MedGen UID:
324419
Concept ID:
C1836047
Anatomical Abnormality
Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
Microretrognathia
MedGen UID:
326907
Concept ID:
C1839546
Finding
A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.
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.
Narrow face
MedGen UID:
338616
Concept ID:
C1849121
Finding
Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Round face
MedGen UID:
341560
Concept ID:
C1856468
Finding
The facial appearance is more circular than usual as viewed from the front.
Preauricular skin tag
MedGen UID:
395989
Concept ID:
C1860816
Finding
A rudimentary tag of sking often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).
Short philtrum
MedGen UID:
350006
Concept ID:
C1861324
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.
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.
Thick lower lip vermilion
MedGen UID:
473520
Concept ID:
C2053437
Finding
Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).
Anterior open-bite malocclusion
MedGen UID:
870165
Concept ID:
C4024598
Anatomical Abnormality
A type of malocclusion in which there is a gap between the anterior teeth (incisors).
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
An abdominal hernia with an external bulge in the GROIN region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the ABDOMINAL WALL (transversalis fascia) in Hesselbach's triangle. The former type is commonly seen in children and young adults; the latter in adults.
Premature graying of hair
MedGen UID:
75524
Concept ID:
C0263498
Finding
Development of gray hair at a younger than normal age.
Single transverse palmar crease
MedGen UID:
96108
Concept ID:
C0424731
Finding
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
Preauricular skin tag
MedGen UID:
395989
Concept ID:
C1860816
Finding
A rudimentary tag of sking often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).
High axial triradius
MedGen UID:
425026
Concept ID:
CN000977
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV5p partial monosomy syndrome
Follow this link to review classifications for 5p partial monosomy syndrome in Orphanet.

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

Recent clinical studies

Etiology

Espirito Santo LD, Moreira LM, Riegel M
Biomed Res Int 2016;2016:5467083. Epub 2016 Apr 7 doi: 10.1155/2016/5467083. PMID: 27144168Free PMC Article
Kristoffersen KE, Garmann NG, Simonsen HG
Clin Linguist Phon 2014 Oct;28(10):769-84. Epub 2014 Apr 1 doi: 10.3109/02699206.2014.904442. PMID: 24689530
Ballesta-Mudarra S, Machuca-Portillo G, Torres-Lagares D, Rodríguez-Caballero Á, Yáñez-Vico RM, Solano-Reina E, Perea-Pérez E
Med Oral Patol Oral Cir Bucal 2013 Nov 1;18(6):e883-7. PMID: 24121919Free PMC Article
Maas AP, Didden R, Korzilius H, Curfs LM
Res Dev Disabil 2012 Nov-Dec;33(6):1773-9. Epub 2012 Jun 13 doi: 10.1016/j.ridd.2012.04.017. PMID: 22699250
dos Santos KM, de Rezende DC, Borges ZD
Rev Bras Anestesiol 2010 Nov-Dec;60(6):630-3, 350-1. doi: 10.1016/S0034-7094(10)70078-7. PMID: 21146059

Diagnosis

Chen CP, Wang LK, Chern SR, Wu PS, Ko K, Chen YN, Chen SW, Lee MS, Wang W
Taiwan J Obstet Gynecol 2016 Aug;55(4):591-5. doi: 10.1016/j.tjog.2016.06.014. PMID: 27590389
Hope WC, Cordovez JA, Capasso JE, Hammersmith KM, Eagle RC, Lall-Trail J, Levin AV
J AAPOS 2015 Jun;19(3):277-9. doi: 10.1016/j.jaapos.2015.01.018. PMID: 26059676
Xie Y, Zhou Y, Wu J, Sun Y, Chen Y, Chen B
Mol Med Rep 2015 Mar;11(3):1933-8. Epub 2014 Nov 10 doi: 10.3892/mmr.2014.2920. PMID: 25385231
Sardina JM, Walters AR, Singh KE, Owen RX, Kimonis VE
Am J Med Genet A 2014 Jul;164A(7):1761-4. Epub 2014 Mar 26 doi: 10.1002/ajmg.a.36494. PMID: 24677774
Hong JH, Lee HY, Lim MK, Kim MY, Kang YH, Lee KH, Cho SG
Korean J Radiol 2013 Nov-Dec;14(6):960-2. Epub 2013 Nov 5 doi: 10.3348/kjr.2013.14.6.960. PMID: 24265573Free PMC Article

Therapy

Zhu X, Li J, Ru T, Wang Y, Xu Y, Yang Y, Wu X, Cram DS, Hu Y
Prenat Diagn 2016 Apr;36(4):321-7. Epub 2016 Mar 8 doi: 10.1002/pd.4782. PMID: 26833920
Pizzamiglio MR, Nasti M, Piccardi L, Vitturini C, Morelli D, Guariglia C
Int J Rehabil Res 2008 Jun;31(2):151-4. doi: 10.1097/MRR.0b013e3282fbfbde. PMID: 18467929
Zuppa AA, Scorrano A, Cota F, D'Andrea V, Fracchiolla A, Romagnoli C
J Perinat Med 2007;35(4):339-43. doi: 10.1515/JPM.2007.066. PMID: 17614752
Brislin RP, Stayer SA, Schwartz RE
Paediatr Anaesth 1995;5(2):139-41. PMID: 7489425
Taylor WG, McIntosh AS
Br J Clin Pract 1990 Oct;44(10):424-5. PMID: 2268529

Prognosis

Espirito Santo LD, Moreira LM, Riegel M
Biomed Res Int 2016;2016:5467083. Epub 2016 Apr 7 doi: 10.1155/2016/5467083. PMID: 27144168Free PMC Article
Cochran L, Moss J, Nelson L, Oliver C
Am J Med Genet C Semin Med Genet 2015 Jun;169(2):188-97. Epub 2015 May 18 doi: 10.1002/ajmg.c.31438. PMID: 25989416
Myśliwiec M, Panasiuk B, Dębiec-Rychter M, Iwanowski PS, Łebkowska U, Nowakowska B, Marcinkowska A, Stankiewicz P, Midro AT
Am J Med Genet A 2015 Feb;167A(2):445-9. PMID: 25756154
Badoe EV
West Afr J Med 2014 Apr-Jun;33(2):154-6. PMID: 25236835
Albano S, Piccardi L, Pizzamiglio MR, Volpe C, D'Amico S
J Genet Psychol 2013 Jan-Feb;174(1):51-72. doi: 10.1080/00221325.2011.639409. PMID: 23534097

Clinical prediction guides

Espirito Santo LD, Moreira LM, Riegel M
Biomed Res Int 2016;2016:5467083. Epub 2016 Apr 7 doi: 10.1155/2016/5467083. PMID: 27144168Free PMC Article
Myśliwiec M, Panasiuk B, Dębiec-Rychter M, Iwanowski PS, Łebkowska U, Nowakowska B, Marcinkowska A, Stankiewicz P, Midro AT
Am J Med Genet A 2015 Feb;167A(2):445-9. PMID: 25756154
Maas AP, Didden R, Korzilius H, Curfs LM
Res Dev Disabil 2012 Nov-Dec;33(6):1773-9. Epub 2012 Jun 13 doi: 10.1016/j.ridd.2012.04.017. PMID: 22699250
Marignier S, Lesca G, Marguin J, Bussy G, Sanlaville D, des Portes V
Eur J Med Genet 2012 Jun;55(6-7):433-6. Epub 2012 Mar 28 doi: 10.1016/j.ejmg.2012.03.008. PMID: 22510527
Rodríguez-Caballero A, Torres-Lagares D, Yáñez-Vico RM, Gutiérrez-Pérez JL, Machuca-Portillo G
Oral Dis 2012 Mar;18(2):191-7. Epub 2011 Oct 30 doi: 10.1111/j.1601-0825.2011.01864.x. PMID: 22035137

Recent systematic reviews

Corcuera-Flores JR, Casttellanos-Cosano L, Torres-Lagares D, Serrera-Figallo MÁ, Rodríguez-Caballero Á, Machuca-Portillo G
Clin Anat 2016 Jul;29(5):555-60. Epub 2015 Dec 21 doi: 10.1002/ca.22654. PMID: 26457586

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