Odontotrichomelic Syndrome
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Odontotrichomelic Syndrome Overview

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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?
Experienced in Odontotrichomelic Syndrome
Dr. Jennifer A. Jonkers
Internal Medicine
Experienced in Odontotrichomelic Syndrome
Dr. Jennifer A. Jonkers
Internal Medicine

Abingdon Internal Medicine

322 East Valley Street, 
Abingdon, VA 
276-628-1106
Languages Spoken:
English
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Offers Telehealth

. Dr. Jonkers is rated as an Experienced provider by MediFind in the treatment of Odontotrichomelic Syndrome. She is also highly rated in 31 other conditions, according to our data. Her clinical expertise encompasses Lung Metastases, Cirrhosis, Familial Combined Hyperlipidemia, and Xanthoma. Dr. Jonkers is board certified in  .

Advanced in Odontotrichomelic Syndrome
Dr. Robert C. Ward
Neurology
Advanced in Odontotrichomelic Syndrome
Dr. Robert C. Ward
Neurology

Corewell Health Lakeland Hospitals Neurology Royalton

3950 Hollywood Road, Suite 230, 
Saint Joseph, MI 
269-985-0000
Experience:
40+ years
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Robert Ward is a Neurologist practicing medicine in Saint Joseph, Michigan. He has been practicing medicine for over 40 years. Dr. Ward is rated as an Advanced provider by MediFind in the treatment of Odontotrichomelic Syndrome. He is also highly rated in 31 other conditions, according to our data. His clinical expertise encompasses Autosomal Dominant Partial Epilepsy with Auditory Features, Axillary Nerve Dysfunction, Seizures, and Memory Loss. Dr. Ward is board certified in American Osteopathic Board Of Neurology & Psychiatry and American Osteopathic Board Of Neurology & Psychiatry. Dr. Ward 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 practicing medicine in Cairo, Egypt. Ms. Zaki is rated as a Distinguished expert by MediFind in the treatment of Odontotrichomelic Syndrome. She is also highly rated in 68 other conditions, according to our data. Her clinical expertise encompasses 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