Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Brachydaktylie

Unter Brachydaktylie wird die angeborene Verkürzung von Fingern und Zehen verstanden. Die Vererbung dieser Abnormalität ist dominant. Die Erkrankungsgruppe ist pathogenetisch und morphologisch recht heterogen.

Gliederung

Minderwuchs
Akro-capito-femorale Dysplasie
Brachydaktylie
Brachydactylie kombiniert Typ B und E
Brachydaktylie Typ A1
Brachydaktylie Typ A1, A
IHH
Brachydaktylie Typ A1, B
Brachydaktylie Typ A1, C
GDF5
Brachydaktylie Typ A1, D
BMPR1B
Brachydaktylie Typ A2
BMPR1B
Brachydaktylie Typ A3
Brachydaktylie Typ A4
Brachydaktylie Typ B1
ROR2
Brachydaktylie Typ B2
NOG
Brachydaktylie Typ C
GDF5
Brachydaktylie Typ D
HOXD13
Brachydaktylie Typ E1
HOXD13
Brachydaktylie Typ E2
PTHLH
Brachydaktylie-Syndaktylie
HOXD13
Fibula-Aplasie - komplexe Brachydaktylie
GDF5
Kleinwuchs, SHOX-bedingt
Sotos-Syndrom 1
Syndromale Wachstumsstörung

Referenzen:

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.

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.

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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9.

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

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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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Update: 31. März 2018