BOD Syndrome Overview

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Learn About BOD Syndrome

What is the definition of BOD Syndrome?
BOD syndrome is a genetic condition characterized by underdeveloped “pinky” toenails or fingernails, normal intellect to mild intellectual disability, distinct facial features, and short stature. The cause of the condition is not known. BOD syndrome is thought to be inherited in an autosomal dominant fashion, however in many cases the condition occurs for the first time in a family due to a new genetic change. Signs and symptoms of BOD syndrome are similar to, albeit milder than that of, Coffin-Siris syndrome. The relationship between these syndromes is presently unknown.
What are the alternative names for BOD Syndrome?
  • BOD syndrome
  • Brachymorphism onychodysplasia dysphalangism syndrome
  • Brachymorphism-onychodysplasia-dysphalangism syndrome
Who are the top BOD Syndrome Local Doctors?
Experienced in BOD Syndrome
Dr. Anna M. Szekely
Neurology
Experienced in BOD Syndrome
Dr. Anna M. Szekely
Neurology

Yale University

800 Howard Ave, 
New Haven, CT 
 (15.8 mi)
203-785-2140
Languages Spoken:
English
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Anna Szekely is a Neurologist in New Haven, Connecticut. Dr. Szekely and is rated as an Experienced provider by MediFind in the treatment of BOD Syndrome. Her top areas of expertise are Neurofibromatosis, Familial Paroxysmal Nonkinesigenic Dyskinesia, Neurofibromatosis Type 1 (NF1), and Herpes Simplex Encephalitis.

Experienced in BOD Syndrome
Dr. Kavya C. Mekala
Endocrinology
Experienced in BOD Syndrome
Dr. Kavya C. Mekala
Endocrinology

Yale University

789 Howard Ave, 
New Haven, CT 
 (15.8 mi)
203-688-2471
Languages Spoken:
English
See accepted insurances
Offers Telehealth

Kavya Mekala is an Endocrinologist in New Haven, Connecticut. Dr. Mekala and is rated as an Experienced provider by MediFind in the treatment of BOD Syndrome. Her top areas of expertise are Hypercalcemia, Milk-Alkali Syndrome, Familial Partial Lipodystrophy, and Congenital Generalized Lipodystrophy.

 
 
 
 
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Experienced in BOD Syndrome
Dr. Dinesh K. Shukla
Neurology
Experienced in BOD Syndrome
Dr. Dinesh K. Shukla
Neurology
625 Belle Terre Rd, Suite 205, 
Port Jefferson, NY 
 (18.1 mi)
631-331-0776
Languages Spoken:
English
See accepted insurances

Dinesh Shukla is a Neurologist in Port Jefferson, New York. Dr. Shukla and is rated as an Experienced provider by MediFind in the treatment of BOD Syndrome. His top areas of expertise are Epilepsy, Seizures, Generalized Tonic-Clonic Seizure, and Transient Tic Disorder.

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