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SchC6pf-Schulz-Passarge syndrome

Synonyms
ECCRINE TUMORS WITH ECTODERMAL DYSPLASIA; KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS; Schopf-Schulz-Passarge syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)

Summary

Schopf-Schulz-Passarge syndrome (SSPS) is an autosomal recessive disorder characterized by a constellation of multiple eyelid cysts, hypodontia, hypotrichosis, palmoplantar hyperkeratosis, and onychodystrophy (summary by Mallaiah and Dickinson, 2001). [from OMIM]

Available tests

29 tests are in the database for this condition.

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Clinical tests (29 available)

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Genes See tests for all associated and related genes

  • Also known as: ECTD16, OODD, SSPS, STHAG4, WNT10A
    Summary: Wnt family member 10A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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