Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Brachydactyly type C

Haws-type brachydactyly is an autosomal dominant disorder caused by mutations of the GDF5 gene. Characteristic is a shortage of proximal and middle phalanges with sometimes hypersegmentation. The ring finger is often less affected and pjojects beyond all other fingers. Sometimes patients exhibit a short stature and some other skeletal abnormalities.

Systematic

Brachydactyly
Brachydactyly type A1
Brachydactyly type A2
Brachydactyly type A3
Brachydactyly type A4
Brachydactyly type B1
Brachydactyly type B2
Brachydactyly type C
GDF5
Brachydactyly type D
Brachydactyly type E1
Brachydactyly type E2
Brachydactyly types B and E combined
Brachydactyly-syndactyly
Fibular aplasia-complex brachydactyly syndrome

References:

1.

Storm EE et. al. (1994) Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily.

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2.

Robin NH et. al. (1997) Clinical and locus heterogeneity in brachydactyly type C.

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3.

Polinkovsky A et. al. (1997) Mutations in CDMP1 cause autosomal dominant brachydactyly type C.

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4.

Everman DB et. al. (2002) The mutational spectrum of brachydactyly type C.

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5.

Savarirayan R et. al. (2003) Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families.

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6.

None (1963) Inherited brachydactyly and hypoplasia of the bones of the extremities.

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7.

Schwabe GC et. al. (2004) Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.

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8.

Yang W et. al. (2008) Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.

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9.

Lehmann K et. al. (2006) A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.

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10.

Galjaard RJ et. al. (2001) Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone.

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11.

Debeer P et. al. (2001) Intrafamilial clinical variability in type C brachydactyly.

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12.

Fitch N et. al. (1979) Brachydactyly C, short stature, and hip dysplasia.

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13.

Ventruto V et. al. (1976) Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis.

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14.

Rowe-Jones JM et. al. (1992) Brachydactyly type C associated with shortening of the hallux.

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15.

Sanz J et. al. (1988) Type C brachydactyly transmitted through four generations.

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16.

Robinson GC et. al. (1968) Hereditary brachydactyly and hip disease. Unusual radiological and dermatoglyphic findings in a kindred.

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17.

Baraitser M et. al. (1983) Recessively inherited brachydactyly type C.

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18.

Polymeropoulos MH et. al. (1996) Brachydactyly type C gene maps to human chromsome 12q24.

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Update: Sept. 26, 2018