Hay Wells syndrome recessive type
Overview
A rare recessively inherited genetic disorder characterized by ankyloblepharon, ectodermal dysplasia, and cleft lip and/or cleft palate. The recessive form of this condition is distinguished by the presence at birth of adhesions between the upper and lower jaws.
Symptoms
- Cleft palate
- Ankyloblepharon
- Adhesions between upper and lower jaws
- Cleft lip
- Conical teeth
- Widely spaced teeth
- Missing permanent teeth
- Palmar keratoderma
- Plantar keratoderma
- Peeling skin at birth
- Erythematous skin at birth
- Eroded skin at birth
- Thickened skin
- Partial, patchy absence of sweat glands
- Partial inability to sweat
- Increased skin pigmentation
- Absent nails
- Dystrophic nails
- Wiry hair
- Sparse hair
- Alopecia
- Oval face
- Broad nasal bridge
- Maxillary hypoplasia