Apert syndrome in Adult
See also in: Nail and Distal DigitAlerts and Notices
Important News & Links
Synopsis
Apert syndrome is a clinically heterogeneous skeletal disorder with features overlapping those of Crouzon, Pfeiffer, and Jackson-Weiss acrocephalopolysyndactyly syndromes, with which it is allelic. There is considerable variation in clinical severity, with some patients so mildly affected that they appear almost normal, while others have more severe facial deformities, and still others have syndactyly, sometimes to a marked degree. Pre- and postaxial polydactyly may be present. Progressive synostosis occurs in hands, cervical vertebrae, carpus, tarsus, and of course in the skull, which leads to acrocephaly. The midface is usually flattened.
A small but significant number of individuals have developmental delay and cognitive impairments.
A small but significant number of individuals have developmental delay and cognitive impairments.
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
Look For
Subscription Required
Diagnostic Pearls
Subscription Required
Differential Diagnosis & Pitfalls
To perform a comparison, select diagnoses from the classic differential
Subscription Required
Best Tests
Subscription Required
Management Pearls
Subscription Required
Therapy
Subscription Required
References
Subscription Required
Last Updated:12/18/2022
Apert syndrome in Adult
See also in: Nail and Distal Digit