Brachydactyly type C
Alternate names[edit | edit source]
BDC; Brachydactyly Haws type
Definition[edit | edit source]
Brachydactyly type C is a very rare congenital condition that is characterized by shortening of certain bones in the index, middle and little fingers. The bones of the ring finger are typically normal.
Epidemiology[edit | edit source]
This type of brachydactyly is rare with only few reported pedigrees.
Cause[edit | edit source]
Brachydactyly type C is typically caused by changes (mutations) in the GDF5 gene.
Inheritance
Inheritance of both types is autosomal dominant.
Signs and symptoms[edit | edit source]
- It that is characterized by shortening of certain bones in the index, middle and little fingers.
- The bones of the ring finger are typically normal.
- Other abnormalities may also be present such as hypersegmentation (extra bones) of the index and middle fingers; ulnar deviation (angled towards the fifth finger) of the index finger; and unusually-shaped bones and/or epiphysis (end of a long bone).
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
- Aplasia/Hypoplasia of the 1st metacarpal(Absent/small 1st long bone of hand)
- Cone-shaped epiphyses of the middle phalanges of the hand(Cone-shaped end part of the middle hand bones)
- Pseudoepiphyses of the 2nd finger
- Pseudoepiphyses of the 3rd finger
- Short 2nd finger(Short index finger)
- Short 3rd finger(Short middle finger)
- Short middle phalanx of finger(Short middle bone of finger)
- Type C brachydactyly
- Ulnar deviation of finger(Finger bends toward pinky)
30%-79% of people have these symptoms
- Abnormal fingernail morphology(Abnormal fingernails)
- Clinodactyly of the 5th finger(Permanent curving of the pinkie finger)
- Complete duplication of distal phalanx of the thumb(Complete duplication of outermost bone of the thumb)
- Cone-shaped epiphysis(Cone-shaped end part of bone)
- Enlarged epiphysis of the middle phalanx of the 2nd finger(Enlarged end part of the middle bone of the index finger)
- Enlarged epiphysis of the middle phalanx of the 3rd finger(Enlarged end part of the middle bone of the middle finger)
- Enlarged epiphysis of the proximal phalanx of the 2nd finger(Enlarged end part of innermost long bone of index finger)
- Enlarged epiphysis of the proximal phalanx of the 3rd finger(Enlarged end part of innermost long bone of the middle finger)
- Short 1st metacarpal(Shortened 1st long bone of hand)
- Short metatarsal(Short long bone of foot)
- Short stature(Decreased body height)
- Stippling of the epiphysis of the distal phalanx of the thumb(Speckled calcifications in the end part of the outermost thumb bone)
- Triangular epiphysis of the middle phalanx of the 2nd finger(Triangular end part of the middle bone of the index finger)
- Triangular epiphysis of the middle phalanx of the 3rd finger(Triangular end part of the middle bone of the middle finger)
- Triangular epiphysis of the proximal phalanx of the 2nd finger(Triangular end part of innermost long bone of index finger)
- Triangular epiphysis of the proximal phalanx of the 3rd finger(Triangular end part of innermost long bone of the middle finger)
- Triangular shaped middle phalanx of the 2nd finger(Triangular shaped middle bone of index finger)
- Triangular shaped middle phalanx of the 3rd finger(Triangular shaped middle bone of the middle finger)
- Triangular shaped proximal phalanx of the 2nd finger(Triangular shaped innermost bone of index finger)
- Triangular shaped proximal phalanx of the 3rd finger(Triangular shaped innermost bone of middle finger)
- Ulnar deviation of the 2nd finger
- Ulnar deviation of the 3rd finger
5%-29% of people have these symptoms
- Delayed skeletal maturation(Delayed bone maturation)
- Metatarsus valgus
- Symphalangism affecting the phalanges of the hand(Fused finger bones of the hand)
- Talipes equinovalgus
- Talipes equinovarus(Club feet)
Diagnosis[edit | edit source]
Clinical evaluation of hands. X-rays of hands and pattern profile analysis. The ring finger is always the longest, longer than the index (hyperphalangism detected on radiological examination).[1].
Treatment[edit | edit source]
There is no specific management or treatment that is applicable to all forms of brachydactyly.[2]. 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
NIH genetic and rare disease info[edit source]
Brachydactyly type C is a rare disease.
Brachydactyly type C Resources | ||
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