CORNELIA de LANGE SYNDROME - CLASSIC
FORM
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ALTERNATE NAMES
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Classic Form Cornelia de Lange Syndrome; CDLS1, Brachmann-De Lange Syndrome; BDLS;
CdLS; de Lange Syndrome; Amsterdam Dwarfism; Bushy Syndrome
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DESCRIPTION
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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.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing: The diagnosis of the classic form of CdLS requires a positive finding of mutations
in the NIPBL gene.
Physical findings: In children, classic CdLS is characterized by:
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Early feeding difficulties;
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Global developmental delays with severe to profound intellectual disabilities;
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Skeletal abnormalities involving missing digits of the hands (oligodacyly);
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Small head size (microcephaly);
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Characteristic facial features with low set ears, long eyelashes, bushy eyebrows joined
in the middle (synophrys), widely spaced teeth, upturned nose;
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Excessive body hair (hirsutism);
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Genital abnormalities (males);
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Musculoskeletal abnormalities including reduction defects with absent forearms alone,
small hands or feet, and missing fingers;
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Some children with CdLS demonstrate stereotypical behaviors similar to autism, including
self-stimulation, self-destructive tendencies, hyperactivity, and other behavior problems.
ICD-9: 759.89
ICD-10:
Q87.1
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PROGRESSION
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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).
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TREATMENT
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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.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical history and examination that describes the diagnostic features, physical
findings of the impairment;
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Developmental assessment or psychological testing to address allegations of mental
impairment may be warranted.
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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110.08 B
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Equals
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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