Cornélia de Lange syndrome

SYD: 34




Cornélia de Lange syndrome

Description: Cornelia de Lange syndrome (CdLS) is characterized by distinctive facial features, growth retardation (prenatal onset; <5th centile throughout life), hirsutism, and upper limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly. Craniofacial features include synophrys, arched eyebrows, long eyelashes, small upturned nose, small widely spaced teeth, and microcephaly. IQ ranges from below 30 to 102 with an average of 53. Many individuals demonstrate autistic and self-destructive tendencies. Frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.


Synonyms:
There are no synonyms for this combination.

Category: Syndrome

Developmental anomalies

Listed in the combination's profile :


There are no developmental anomalies for this combination.

Observed in MDB cases:


There are no developmental anomalies for this combination.
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