Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Brachydactyly

Brachydactyly is an inborn shortage of fingers and toes. Inheritance is dominant. This group of disorders is heterogeneous pathogenetically and morphologically.

Systematic

Short stature
Acrocapitofemoral dysplasia
Brachydactyly
Brachydactyly type A1
Brachydactyly type A1, A
IHH
Brachydactyly type A1, B
Brachydactyly type A1, C
GDF5
Brachydactyly type A1, D
BMPR1B
Brachydactyly type A2
BMPR1B
Brachydactyly type A3
Brachydactyly type A4
Brachydactyly type B1
ROR2
Brachydactyly type B2
NOG
Brachydactyly type C
GDF5
Brachydactyly type D
HOXD13
Brachydactyly type E1
HOXD13
Brachydactyly type E2
PTHLH
Brachydactyly types B and E combined
Brachydactyly-syndactyly
HOXD13
Fibular aplasia-complex brachydactyly syndrome
GDF5
Short stature, SHOX-linked
Sotos syndrome 1
Syndromic growth retardation

References:

1.

Dathe K et al. (2009) Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

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2.

Su P et al. (2011) A 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family.

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3.

Seemann P et al. (2005) Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.

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4.

Plöger F et al. (2008) Brachydactyly type A2 associated with a defect in proGDF5 processing.

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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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11.

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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12.

Cuevas-Sosa A et al. (1971) Brachydactyly with absence of middle phalanges and hypoplastic nails. A new hereditary syndrome.

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13.

None (1968) Familial absence of middle phalanges with nail dysplasia: a new syndrome.

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14.

Ohzeki T et al. (1993) Brachydactyly type A-4 (Temtamy type) with short stature in a Japanese girl and her mother.

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15.

Williams KD et al. (2007) Heritability of brachydactyly type A3 in children, adolescents, and young adults from an endogamous population in eastern Nepal.

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16.

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

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17.

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

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18.

Wikipedia article

Wikipedia EN (Brachydactyly) [^]
Update: April 29, 2019