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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

General

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

Database Correlations

OMIM 106260

References

  1. OMIM :accession 106260
  2. UniProt :accession Q9H3D4