Learn About Odontotrichomelic Syndrome

What is the definition of Odontotrichomelic Syndrome?
Odontotrichomelic syndrome is a very rare ectodermal dysplasia affecting the hair, teeth, and nails and all four extremities. 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. The cause is unknown. Inheritance is autosomal recessive.
Save information for later
Sign Up
What are the alternative names for Odontotrichomelic Syndrome?
  • Odontotrichomelic syndrome
  • Freire-Maia odontotrichomelic syndrome
  • Freire-Maia syndrome
  • Odontotrichomelic hypohidrotic dysplasia
  • Tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities
Who are the top Odontotrichomelic Syndrome Local Doctors?
Distinguished
Distinguished
 
 
 
 
Learn about our expert tiers
Learn more
Distinguished
What are the latest Odontotrichomelic Syndrome Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Odontotrichomelic Syndrome?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.