Brachydactyly type A4
Alternate names[edit | edit source]
BDA4; Brachydactyly Temtamy type; Temtamy type brachydactyly; Brachymesophalangy II and V
Definition[edit | edit source]
A rare congenital limb malformation characterized by short middle phalanges of the 2nd and 5th fingers and absence of the middle phalanges of toes 2 to 5. Occasionally, the 4th digit may be affected and manifests with an abnormally shaped middle phalanx which causes radial deviation of the distal phalanx. Other hand/foot malformations, such as syndactyly, polydactyly, reduction defects and symphalangism, may be associated.
Epidemiology[edit | edit source]
This type is apparently rare. Only few pedigrees were reported.
Cause[edit | edit source]
- Mutations in the homeobox containing gene (HOXD13) can give rise to limb malformations with variable expressivity and a wide spectrum of clinical manifestations including synpolydactyly and brachydactyies types D and E. [1].
- Zhao et al. found a link between HOXD13 and two additional limb phenotypes – syndactyly type V and brachydactyly type A4, and suggested the term "HOXD13 limb morphopathies" for the spectrum of limb disorders caused by HOXD13 mutations.
Signs and symptoms[edit | edit source]
- The main features were brachymesophalangy affecting mainly the 2nd and 5th digits.
- When the 4th digit was affected, it showed an abnormally shaped middle phalanx leading to radial deviation of the distal phalanx.
- The feet also showed absence of middle phalanges of the lateral four toes.
- The propositus had congenital talipes calcaneovalgus.
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Short middle phalanx of the 2nd finger(Short middle bone of index finger)
- Short middle phalanx of the 5th finger(Short middle bone of the little finger)
- Shortening of all middle phalanges of the toes(Shortening of all the middle bones of the toes)
30%-79% of people have these symptoms
- Short stature(Decreased body height)
- Symphalangism affecting the phalanges of the hand(Fused finger bones of the hand)
5%-29% of people have these symptoms
- Talipes equinovarus(Club feet)
Diagnosis[edit | edit source]
Clinical evaluation of digits. Radiological examination and pattern profile analysis for the length of the phalanges.[2].
Treatment[edit | edit source]
- There is no specific management or treatment that is applicable to all forms of brachydactyly. [3].
- 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[edit | edit source]
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.
References[edit | edit source]
- ↑ Temtamy, S. A., & Aglan, M. S. (2008). Brachydactyly. Orphanet journal of rare diseases, 3, 15. https://doi.org/10.1186/1750-1172-3-15
- ↑ Temtamy, S. A., & Aglan, M. S. (2008). Brachydactyly. Orphanet journal of rare diseases, 3, 15. https://doi.org/10.1186/1750-1172-3-15
- ↑ Temtamy, S. A., & Aglan, M. S. (2008). Brachydactyly. Orphanet journal of rare diseases, 3, 15. https://doi.org/10.1186/1750-1172-3-15
NIH genetic and rare disease info[edit source]
Brachydactyly type A4 is a rare disease.
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