Odontotrichomelic syndrome

Alternate names

Odontotrichomelic hypohidrotic dysplasia; Tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities; Freire-Maia syndrome; Freire-Maia odontotrichomelic syndrome

Definition

Odontotrichomelic syndrome is a very rare ectodermal dysplasia affecting the hair, teeth, and nails and all four extremities.

Cause

The cause is unknown.

Inheritance

Autosomal recessive inheritance, a 25% chance

Inheritance is autosomal recessive.

Signs and symptoms

The main problems are malformations of all the extremities including absence of several bones in the hands and feet, abnormal teeth, and sparse hair (hypotrichosis).

Other signs and symptoms may include:

• very small or undeveloped (hypoplastic) nails;
• abnormalities of the ear; excessive sweating (hyperhidrosis);
• an unusual facial appearance with malformed ears, large nose, high forehead, and protruding lips;
• as well as a flat head, long neck, and sloping shoulders with dimples on top.

Treatment

Because very few people have been described, there is no information about specific treatment.

NIH genetic and rare disease info

• NIH info on Odontotrichomelic syndrome

Odontotrichomelic syndrome is a rare disease.

Odontotrichomelic syndrome Resources
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