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Apert syndrome - Nail and Distal Digit
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Apert syndrome - Nail and Distal Digit

See also in: Overview
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Contributors: Bertrand Richert MD, Robert Baran MD
Other Resources UpToDate PubMed

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

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

The classic clinical features make the diagnosis easier.

Other disorders that can cause macronychia include the following:

Best Tests

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Management Pearls

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Therapy

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References

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Last Updated: 10/22/2013
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Apert syndrome - Nail and Distal Digit
See also in: Overview
Print 7 Images
View all Images (7)
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Apert syndrome : Broad nail and/or distal digit, Craniosynostosis, Flat nasal bridge, Hypertelorism, Chronic hyperhidrosis
Clinical image of Apert syndrome
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