Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Brachydactyly type B1

Brachydactyly type B1 is an autosomal dominant disorder caused by mutations of the ROR2 gene. Characteristic is a shortage of distal phalanges of digits 2-5. Occasionally nail deformities are observed. Short stature and other skeletal abnormalities are not typical.

Systematic

Brachydactyly
Brachydactyly type A1
Brachydactyly type A2
Brachydactyly type A3
Brachydactyly type A4
Brachydactyly type B1
ROR2
Brachydactyly type B2
Brachydactyly type C
Brachydactyly type D
Brachydactyly type E1
Brachydactyly type E2
Brachydactyly types B and E combined
Brachydactyly-syndactyly
Fibular aplasia-complex brachydactyly syndrome

References:

1.

Oldridge M et al. (1999) Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity.

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2.

Oishi I et al. (1999) Spatio-temporally regulated expression of receptor tyrosine kinases, mRor1, mRor2, during mouse development: implications in development and function of the nervous system.

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3.

DeChiara TM et al. (2000) Ror2, encoding a receptor-like tyrosine kinase, is required for cartilage and growth plate development.

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4.

Oldridge M et al. (2000) Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.

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5.

Schwabe GC et al. (2000) Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

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6.

Bacchelli C et al. (2003) ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome.

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7.

Hamamy H et al. (2006) Brachydactyly type B1: report of a family with de novo ROR2 mutation.

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8.

Lv D et al. (2009) A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family.

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9.

Kjaer KW et al. (2009) A novel subtype of distal symphalangism affecting only the 4th finger.

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10.

Thompson EM et al. (1988) Sorsby syndrome: a report on further generations of the original family.

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11.

Battle HI et al. (1973) Mackinder's hereditary brachydactyly: phenotypic, radiological, dermatoglyphic and genetic observations in an Ontario family.

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12.

Gong Y et al. (1999) Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation.

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13.

None (1935) CONGENITAL COLOBOMA OF THE MACULA: TOGETHER WITH AN ACCOUNT OF THE FAMILIAL OCCURRENCE OF BILATERAL MACULAR COLOBOMA IN ASSOCIATION WITH APICAL DYSTROPHY OF HANDS AND FEET.

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14.

OMIM.ORG article

Omim 113000 [^]
Update: April 29, 2019