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SchC6pf-Schulz-Passarge syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.
Uniprot Description A rare ectodermal dysplasia, characterized chiefly by cysts of the eyelid margins, palmoplantar keratoderma, hypodontia, hypotrichosis and nail dystrophy. Multiple eyelid apocrine hidrocystomas are the hallmark of this condition, although they usually appear in adulthood. The concomitant presence of eccrine syringofibroadenoma in most patients and of other adnexal skin tumors in some affected subjects indicates that Schopf-Schulz-Passarge syndrome is a genodermatosis with skin appendage neoplasms.
Mondo Term and Equivalent IDs
MONDO:0009145:  SchC6pf-Schulz-Passarge syndrome
DOID:0111647: 
MESH:C565607: 
Orphanet:50944: 
SCTID:700062000: 
UMLS:C1857069: