Apert syndrome - Nail and Distal Digit
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Synopsis
Apert syndrome, a type of acrocephalosyndactyly, is a genetic disorder associated with craniosynostosis and premature epiphyseal closure, which results in deformities of the skull, hands, and feet. Most cases are new mutations, but autosomal dominant inheritance can occur. Patients with Apert syndrome have typical appearance with flat facies, flat occiput, brachycephaly, hypertelorism, and syndactyly of the hands and feet. The syndactyly may result in a large single nail. Patients can also have significant acne that may require treatment with isotretinoin.
Codes
ICD10CM:
Q87.0 – Congenital malformation syndromes predominantly affecting facial appearance
SNOMEDCT:
205258009 – Apert syndrome
Q87.0 – Congenital malformation syndromes predominantly affecting facial appearance
SNOMEDCT:
205258009 – Apert syndrome
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Last Updated:12/21/2008
Apert syndrome - Nail and Distal Digit
See also in: Overview