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Dysostosis with brachydactyly

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Disease definition

Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis.

ORPHA:69028

Classification level: Group of disorders

Prevalence: Unknown

Inheritance: Autosomal dominant, Autosomal recessive, X-linked recessive

Age of onset: Infancy, Neonatal

UMLS: C5681270

Summary
Epidemiology

The various types of isolated brachydactyly are rare, except for types A3 and D.

Clinical description

Brachydactyly can occur either as an isolated malformation or as part of a complex malformation syndrome. To date, many different forms of brachydactyly have been identified. Some forms also result in short stature. In isolated brachydactyly, subtle changes elsewhere may be present. Brachydactyly may also be accompanied by other hand malformations, such as syndactyly, polydactyly, reduction defects, or symphalangism.

Etiology

For the majority of isolated brachydactylies and some syndromic forms of brachydactyly, the causative gene defect has been identified. In isolated brachydactyly, the inheritance is mostly autosomal dominant with variable expressivity and penetrance.

Diagnostic methods

Diagnosis is clinical, anthropometric and radiological.

Antenatal diagnosis

Prenatal diagnosis is usually not indicated for isolated forms of brachydactyly, but may be appropriate in syndromic forms. Molecular studies of chorionic villus samples at 11 weeks of gestation and by amniocentesis after the 14th week of gestation can provide antenatal diagnosis if the causative mutation in the family is known.

Genetic counseling

The nature of genetic counseling depends both on the pattern of inheritance of the type of brachydactyly present in the family and on the presence or absence of accompanying symptoms.

Management and treatment

There is no specific management or treatment that is applicable to all forms of brachydactyly. Plastic surgery is only indicated if the brachydactyly affects hand function or for cosmetic reasons, but is typically not needed. Physical therapy and ergotherapy may ameliorate hand function.

Prognosis

Prognosis for the brachydactylies is strongly dependent on the nature of the brachydactyly, and may vary from excellent to severely influencing hand function. If brachydactyly forms part of a syndromic entity, prognosis often depends on the nature of the associated anomalies.

Last update: June 2008 - Expert reviewer(s): Dr Mona AGLAN - Pr Samia TEMTAMY
A summary on this disease is available in Français (2008) Español (2008) Deutsch (2008) Italiano (2008) Português (2008) Nederlands (2008)
Detailed information
Disease review articles
Review article
English (2008) - Orphanet J Rare Dis

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

Additional information
The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.