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Wrinkly skin syndrome

Synonyms
Type of Gerodermia osteodysplastica
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: ATP6V0A2-Related Cutis Laxa
ATP6V0A2-related cutis laxa is characterized by generalized cutis laxa, findings associated with generalized connective tissue disorder, developmental delays, and a variety of neurologic findings including abnormality on brain MRI. At birth, hypotonia, overfolded skin, and distinctive facial features are present and enlarged fontanelles are often observed. During childhood, the characteristic facial features and thick or coarse hair may become quite pronounced. The skin findings decrease with age, although easy bruising and Ehlers-Danlos-like scars have been described in some. In most (not all) affected individuals, cortical and cerebellar malformations are observed on brain MRI. Nearly all affected individuals have developmental delays, seizures, and neurologic regression.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Lionel Van Maldergem
William Dobyns
Uwe Kornak
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Available tests

63 tests are in the database for this condition.

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Clinical tests (63 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: A2, ARCL, ARCL2A, ATP6A2, ATP6N1D, J6B7, RTF, STV1, TJ6, TJ6M, TJ6S, VPH1, WSS, a2V, ATP6V0A2
    Summary: ATPase H+ transporting V0 subunit a2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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