Schopf-Schulz-Passarge syndrome

Term ID

DOID:0111647

Synonyms

• eccrine tumors-ectodermal dysplasia
• keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome
• palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome
• palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome
• SSPS

Definition

An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WNT10A gene on chromosome 2q35. (2)

References

• MESH:C565607
• MIM:224750
• ORDO:50944
• SNOMEDCT_US_2023_03_01:700062000
• UMLS_CUI:C1857069

Ontology

Human Disease   ( DOID:0111647 )