ankyloblepharon-ectodermal defects-cleft lip/palate (AEC syndrome)

Pathology

• congenital ectodermal dysplasia
• maxillary hypoplasia
• hypodontia
• cleft lip, cleft palate

Genetics

• autosomal dominant
• associated with defects in TP63

Clinical manifestations

• coarse, wiry, sparse hair
• dystrophic nails
• slight hypohidrosis
• scalp infections
• ankyloblepharon filiforme adnatum

More general terms

• genetic syndrome (multisystem disorder)
• congenital anomaly (birth defect)

Database

• OMIM: https://mirror.omim.org/entry/106260