Diagnosis
Facial abnormalities include hypertelorism, cleft lip and palate, midfacial hypoplasia, dental anomalies, and lacrimal gland or duct atresia. Hand and feet abnormalities range from hypoplastic nails to polydactyly, syndactyly and lobster claw-deformity. The carpal, tarsal, metacarpal or metatarsal bones can be dysplastic or absent. Absent or abnormal digit posture is very common. The defects are not always bilaterally symmetric. Renal anomalies are a common associated finding. Superficial features of the ectodermal dysplasia include sparse scalp hair, albinoid changes in the skin, pigmented lesions, absence or reduction of the sebaceous glands and nail abnormalities. Other anomalies such as microcephaly, mental retardation, conduction deafness, inguinal hernias and cryptorchidism have been reported. Chromosomal analysis is recommended, since various translocations have been documented in several cases.