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Apert syndrome in Adult
See also in: Nail and Distal Digit
Other Resources UpToDate PubMed

Apert syndrome in Adult

See also in: Nail and Distal Digit
Contributors: Harold E. Cross MD, PhD, Lauren Patty Daskivich MD, MSHS
Other Resources UpToDate PubMed

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.

Codes

ICD10CM:
Q87.0 – Congenital malformation syndromes predominantly affecting facial appearance

SNOMEDCT:
205258009 – Apert syndrome

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Therapy

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References

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Last Updated:12/18/2022
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Apert syndrome in Adult
See also in: Nail and Distal Digit
A medical illustration showing key findings of Apert syndrome : Broad nail and/or distal digit, Craniosynostosis, Flat nasal bridge, Hypertelorism, Chronic hyperhidrosis
Clinical image of Apert syndrome - imageId=2763659. Click to open in gallery.
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