Brachydactyly Type B
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Brachydactyly Type B Overview

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Learn About Brachydactyly Type B

What is the definition of Brachydactyly Type B?
Brachydactyly type B (BDB) is a condition characterized by incomplete development (hypoplasia) or absence of the outermost bones of the fingers and toes (distal phalanges) and nails. Additional features may include hypoplasia of the middle phalanges, fusion of the joints (symphalangism), broad thumbs, and webbed fingers (syndactyly). The feet are often less severely affected than the hands. There are 2 types of this condition, designated as type 1 and 2. BDB type 1 is caused by genetic changes in the ROR2 gene. BDB type 2 is caused by genetic changes in the NOG gene. Inheritance of both types is autosomal dominant.
What are the alternative names for Brachydactyly Type B?
  • Brachydactyly type B
Who are the top Brachydactyly Type B Local Doctors?
Experienced in Brachydactyly Type B
Dr. Alvaro H. Russi
Pediatrics
Experienced in Brachydactyly Type B
Dr. Alvaro H. Russi
Pediatrics

ETSU Physicians & Associates- Pediatrics

325 N State Of Franklin Rd, 
Johnson City, TN 
423-439-7320
Languages Spoken:
English
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. Dr. Russi is rated as an Experienced provider by MediFind in the treatment of Brachydactyly Type B. His top areas of expertise are Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication.

Noah D. Buboltz
Experienced in Brachydactyly Type B
Dr. Noah D. Buboltz
Pediatrics
Experienced in Brachydactyly Type B
Dr. Noah D. Buboltz
Pediatrics

St. Christopher's Pediatric Associates - Roosevelt Blvd

9815 Roosevelt Blvd, Ste N, 
Philadelphia, PA 
215-969-4917
Languages Spoken:
English
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. Dr. Buboltz is rated as an Experienced provider by MediFind in the treatment of Brachydactyly Type B. His top areas of expertise are Vascular Birthmark, Stork Bite, Autism Spectrum Disorder, and Delayed Growth.

 
 
 
 
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Lisa D. Maskill
Advanced in Brachydactyly Type B
Dr. Lisa D. Maskill
Pediatric Orthopedics
Advanced in Brachydactyly Type B
Dr. Lisa D. Maskill
Pediatric Orthopedics

Corewell Health Pediatric Orthopedics - 35 Michigan St NE

35 Michigan Street Northeast, Suite 4150, 
Grand Rapids, MI 
616-267-2600
Experience:
21+ years
Languages Spoken:
English
See accepted insurances
Accepting New Patients

Lisa Maskill is a Pediatric Orthopedics provider in Grand Rapids, Michigan. Dr. Maskill has been practicing medicine for over 21 years and is rated as an Advanced provider by MediFind in the treatment of Brachydactyly Type B. Her top areas of expertise are Brachydactyly Type C, Brachydactyly Type B, Sprengel Deformity, and Liebenberg Syndrome. Dr. Maskill is currently accepting new patients.

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What are the latest Brachydactyly Type B Clinical Trials?
Coordination of Rare Diseases at Sanford
Coordination of Rare Diseases at Sanford
Enrollment Status: Recruiting
Publish Date: May 29, 2025

Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...

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Who are the sources who wrote this article ?

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