CORNELIA de LANGE SYNDROME- CLASSIC FORM

ALTERNATE NAMES

Classic Form Cornelia de Lange Syndrome; CDLS1, Brachmann-De Lange Syndrome; BDLS; CdLS; de Lange Syndrome; Amsterdam Dwarfism; Bushy Syndrome

DESCRIPTION

Cornelia de Lange Syndrome (CdLS) is a genetic disorder that affects multiple body systems. There are three forms of this disorder--the classic or severe form, caused by mutations on the NIPBL gene; and the milder forms, CDLS2 and CDLS3, caused by mutations in SMC1A and SMC3 genes.

In children, classic CdLS is characterized by early feeding difficulties, global developmental delays with severe to profound intellectual disabilities, limited language, poor growth, skeletal abnormalities involving missing digits of the hands (oligodacyly), low set ears, small head size (microcephaly), and characteristic facial features. Some children with CdLS demonstrate stereotypical behaviors similar to autism, including self-stimulation, self-destructive tendencies, hyperactivity, and other behavior problems.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: The diagnosis of the classic form of CdLS requires a positive finding of mutations in the NIPBL gene.

Physical findings: Global developmental delays, characteristic facial features with low set ears, long eyelashes, bushy eyebrows joined in the middle (synophrys), widely spaced teeth, upturned nose; microcephaly, poor growth, excessive body hair (hirsutism), cardiac septal defects, genital abnormalities (males); and musculoskeletal abnormalities including reduction defects with absent forearms alone, small hands or feet, and missing fingers. Seizures, gastroesophageal reflux, hearing loss, and vision abnormalities may also occur.

ICD-9: 759.89

ONSET AND PROGRESSION

Prenatal onset growth failure occurs in most newborns with CdLS, with continuing postnatal height, weight, and head circumference growth below the fifth percentile throughout life. Most individuals with classic CdLS have been reported to have severe to profound intellectual disability with IQs ranging from 30 to 86 (mean 53).

TREATMENT

There is currently no cure for this disorder. Treatment and management of CdLS is symptomatic, such as gastrostomy tube placement for nutrition and gastroesophageal reflux, and anticonvulsant medication for seizures. Death most commonly is related to aspiration pneumonia.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

Clinical history and examination that describes the diagnostic features, physical findings of the impairment and laboratory studies from the pediatrician are needed to confirm the diagnosis.

Developmental assessment or psychological testing to address allegations of mental impairment may be warranted.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

110.08B

Medical Equals