Brachydactyly type E

Title

Other Names:

Type E brachydactyly

Categories:

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 93387

Disease definition

Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.

Epidemiology

BDE is very rare.

Clinical description

Occasionally, the metatarsals are also short. Hyperextensibility of the hand joints is a striking feature. Axial triradius may occur. Affected individuals may be of moderately short stature.

Etiology

BDE may be due to mutations in the PTHLH gene (12p12.1-p11.2) or HOXD13 (2q31-q32).

Antenatal diagnosis

It is inherited as an autosomal dominant trait with variable expressivity.

Visit the Orphanet disease page for more resources.

Last updated: 10/9/2010

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Short metacarpal	Very frequent (present in 80%-99% of cases)
Type E brachydactyly	Very frequent (present in 80%-99% of cases)
Joint hyperflexibility	Frequent (present in 30%-79% of cases)
Short distal phalanx of finger	Frequent (present in 30%-79% of cases)
Aplasia/Hypoplasia of the distal phalanx of the hallux	Occasional (present in 5%-29% of cases)
Frontal bossing	Occasional (present in 5%-29% of cases)
Macrocephaly	Occasional (present in 5%-29% of cases)
Short metatarsal	Occasional (present in 5%-29% of cases)
Upper limb asymmetry	Occasional (present in 5%-29% of cases)
Autosomal dominant inheritance	-
Brachydactyly	-
Moderately short stature	-
Multiple impacted teeth	-
Round face	-
Short clavicles	-
Straight clavicles	-

Last updated: 9/1/2017

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Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The University of California San Francisco Limb Study is researching the genetic causes of limb malformations. They are looking for participants who only have problems with their limbs, such as fused or webbed fingers/toes, more than 5 fingers/toes, less than 5 fingers/toes, split hand and foot also called ectrodactyly, short fingers/toes, bent pinky fingers, extra long fingers, flexed fingers, club foot, etc. Visit the study’s website to learn more about who is eligible to take part in this study.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Brachydactyly type E. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

The Orphanet Journal of Rare Diseases has published an article with information on this condition. This journal is affiliated with the Orphanet reference portal for information on rare diseases and orphan drugs.

News & Events News & Events

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