Odontotrichomelic syndrome
Odontotrichomelic syndrome
Definition
Odontotrichomelic syndrome is characterized by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive.
Also known as Freire-Maia odontotrichomelic syndrome, Freire-Maia syndrome, odontotrichomelic hypohidrotic dysplasia, odontotrichomelic syndrome, tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities — per MONDO