Brachydactyly type B (BDB) is characterized by terminal deficiency of fingers and toes.
Etiology
BDB is caused by
heterozygous truncating mutations in the receptor tyrosine kinase-like orphan receptor 2 (ROR2) in the majority of patients
point mutations in the bone morphogenetic protein antagonist NOGGIN (17668388)
References
Lehmann K, Seemann P, Silan F, Goecke TO, Irgang S, Kjaer KW, Kjaergaard S, Mahoney MJ, Morlot S, Reissner C, Kerr B, Wilkie AO, Mundlos S. A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. Am J Hum Genet. 2007 Aug;81(2):388-96. PMID: 17668388