Odontotrichomelic Syndrome Overview

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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.
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?
Ashley P. Gaines
Advanced in Odontotrichomelic Syndrome
Dr. Ashley P. Gaines
Internal Medicine
Advanced in Odontotrichomelic Syndrome
Dr. Ashley P. Gaines
Internal Medicine

Atrium Health Primary Care Ardsley Internal Medicine

5427 Hwy 49 S., Suite 102, 
Harrisburg, NC 
704-454-7360
Languages Spoken:
English
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Accepting New Patients

Ashley Gaines is a primary care provider, practicing in Internal Medicine in Harrisburg, North Carolina. Dr. Gaines is rated as an Advanced provider by MediFind in the treatment of Odontotrichomelic Syndrome. His top areas of expertise are Macroamylasemia, Childhood Iron Deficiency Anemia, Chronic Cough, and Anemia. Dr. Gaines is currently accepting new patients.

Experienced in Odontotrichomelic Syndrome
Dr. Autumn B. Whitlock-Morales
Pediatrics | Internal Medicine
Experienced in Odontotrichomelic Syndrome
Dr. Autumn B. Whitlock-Morales
Pediatrics | Internal Medicine

Christus Trinity Clinic

630 S Fleishel Ave, 
Tyler, TX 
903-606-5560
Languages Spoken:
English
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Accepting New Patients

Autumn Whitlock-Morales is a primary care provider, practicing in Pediatrics and Internal Medicine in Tyler, Texas. Dr. Whitlock-Morales is rated as an Experienced provider by MediFind in the treatment of Odontotrichomelic Syndrome. Her top areas of expertise are Vitamin D Deficiency, Polycystic Ovary Syndrome, Hypertension, and Glucocorticoid-Remediable Aldosteronism. Dr. Whitlock-Morales is currently accepting new patients.

 
 
 
 
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Distinguished in Odontotrichomelic Syndrome
Maha S. Zaki
Distinguished in Odontotrichomelic Syndrome
Maha S. Zaki
Cairo, C, EG 

Maha Zaki practices in Cairo, Egypt. Ms. Zaki is rated as a Distinguished expert by MediFind in the treatment of Odontotrichomelic Syndrome. Her top areas of expertise are Achalasia Microcephaly Syndrome, Microcephaly, Cortical Dysplasia, and Lissencephaly.

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