Other brachydactylies, including:
Proximal symphalangism;
Multiple synostosis syndrome

Proximal symphalangism is an autosomal-dominant condition characterized by variable fusion of the proximal interphalangeal joints. Multiple synostosis syndrome is a more severe form of proximal symphalangism with additional bone fusions involving carpal, tarsal, and other joints.

Skeletal dysplasia; Developmental disorder

GDF5 [HSA:8200] [KO:K04664]
NOG [HSA:9241] [KO:K04658]
FGF9 [HSA:2254] [KO:K04358]

PMID:19790289 (description, gene)

Mundlos S

The brachydactylies: a molecular disease family.

Clin Genet 76:123-36 (2009)

PMID:18283415 (description, gene)

Yang W, Cao L, Liu W, Jiang L, Sun M, Zhang D, Wang S, Lo WH, Luo Y, Zhang X

Novel point mutations in GDF5 associated with two distinct limb malformations in  Chinese: brachydactyly type C and proximal symphalangism.

J Hum Genet 53:368-74 (2008)

PMID:17994231 (description, gene)

Plett SK, Berdon WE, Cowles RA, Oklu R, Campbell JB

Cushing proximal symphalangism and the NOG and GDF5 genes.

Pediatr Radiol 38:209-15 (2008)

PMID:7428777 (description)

Pedersen JC, Fryns JP, Carpentier G, Heremans G, Van den Berghe H

Multiple synostosis syndrome.

Eur J Pediatr 134:273-5 (1980)

PMID:16532400

Dawson K, Seeman P, Sebald E, King L, Edwards M, Williams J 3rd, Mundlos S, Krakow D

GDF5 is a second locus for multiple-synostosis syndrome.

Am J Hum Genet 78:708-12 (2006)

PMID:19589401

Wu XL, Gu MM, Huang L, Liu XS, Zhang HX, Ding XY, Xu JQ, Cui B, Wang L, Lu SY, Chen XY, Zhang HG, Huang W, Yuan WT, Yang JM, Gu Q, Fei J, Chen Z, Yuan ZM, Wang ZG

Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene.

Am J Hum Genet 85:53-63 (2009)