Learn About Brachydactyly

What is the definition of Brachydactyly?
Brachydactyly is a general term characterized by disproportionately short fingers and toes. It can occur as an isolated finding or as part of a complex syndrome. Many different types of brachydactyly have been identified. Some result in short stature and others are associated with other hand malformations, such as syndactyly, polydactyly, or reduction defects. The underlying genetic cause of most isolated forms of brachydactyly and many of the syndromic forms has been identified. Many of the isolated forms are inherited in an autosomal dominant manner with variable expressivity and reduced penetrance. Treatment depends on the specific type of brachydactyly, but may include plastic surgery, physical therapy and/or ergotherapy.
Save information for later
Sign Up
Who are the top Brachydactyly Local Doctors?
AP
Arrate Pereda
Elite
Highly rated in
14
conditions

Hospital Universitario Araba Txagorritxu

Gasteiz / Vitoria, PV, ES 

Arrate Pereda is in Gasteiz / Vitoria, Spain. Pereda is rated as an Elite expert by MediFind in the treatment of Brachydactyly. They are also highly rated in 14 other conditions, according to our data. Their top areas of expertise are Albright's Hereditary Osteodystrophy, Pseudohypoparathyroidism, Brachydactyly, and Progressive Osseous Heteroplasia.

View Profile
GM
Giovanna R. Mantovani
Elite
Highly rated in
43
conditions

INFN Sezione Di Perugia

Milan, IT 

Giovanna Mantovani is in Milan, Italy. Mantovani is rated as an Elite expert by MediFind in the treatment of Brachydactyly. She is also highly rated in 43 other conditions, according to our data. Her top areas of expertise are Pseudohypoparathyroidism, Albright's Hereditary Osteodystrophy, Acrodysostosis, and Progressive Osseous Heteroplasia.

View Profile
 
 
 
 
Learn about our expert tiers
Learn more
CS
Caroline Silve
Elite
Highly rated in
23
conditions

Hôpital Cochin

Paris, FR 

Caroline Silve is in Paris, France. Silve is rated as an Elite expert by MediFind in the treatment of Brachydactyly. She is also highly rated in 23 other conditions, according to our data. Her top areas of expertise are Acrodysostosis, Dysostosis Peripheral, Brachydactyly, and Albright's Hereditary Osteodystrophy.

View Profile
View All Doctors
What are the latest Brachydactyly Clinical Trials?
Coordination of Rare Diseases at Sanford
Status: Recruiting
Start Date: July 2010
Study Drugs: Burgdorferi
View Trial
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...
Match to trials
Find the right clinical trials for you in under a minute
Get started
View All Clinical Trials
What are the Latest Advances for Brachydactyly?
Tricorhinophalangeal Syndrome type 1: a novel variant and Perthes-like hip changes as first manifestation.
Journal: Acta reumatologica portuguesa
Published: July 21, 2021
View publication
Summary: Tricorhinophalangeal Syndrome type 1: a novel variant and Perthes-like hip changes as first manifestation.
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.
Journal: Genes
Published: July 02, 2021
View publication
Summary: Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.
Tired of the same old research?
Check Latest Advances
Weill-Marchesani Syndrome, a Rare Presentation of Severe Short Stature with Review of the Literature.
Journal: The American journal of case reports
Published: May 31, 2021
View publication
Summary: Weill-Marchesani Syndrome, a Rare Presentation of Severe Short Stature with Review of the Literature.
View All Latest Advances