Conditions / Syndrome
Schopf-Schulz-Passarge syndrome
info · Syndrome
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 2q3
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.
Signs and symptoms
- Sparse body hair
- Sparse hair
- Multiple eyelid margin cysts
- Dry skin
- Hypodontia
- Nail dystrophy
- Palmoplantar keratoderma
- Hyperkeratosis
- Poroma
- Small nail
Also known as: SSPS; 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