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orofaciodigital syndrome type 2

Saturday 21 January 2006

A Orofaciodigital syndrome type 2 (OFD2) is an autosomal recessive disease. Synopsis - short stature - conductive hearing loss - hypertelorism - telecanthus - low nasal bridge - broad nasal tip - bifid nasal tip - hypertrophied frenula - midline cleft of tongue - tongue nodules - lobulate tongue - high-arched palate - midline cleft lip - absent central incisor - pectus excavatum - zygomatic arch hypoplasia - maxillar hypoplasia - wormian bones - scoliosis - metaphyseal flaring - metaphyseal irregularity - bilateral postaxial polydactyly - short hands - fifth finger clinodactyly - brachydactyly - syndactyly - preaxial polydactyly - bilateral preaxial polydactyly - partial duplication of hallux - broad cuboid first metatarsal - extra cuneiform bone - normal intelligence in majority - porencephaly - hydrocephaly Variants - overlap with short rib-polydactyly syndrome type 4 (SRPS) (Mohr-Majewski syndrome) (7981861) See also - short rib-polydactyly syndromes (SRPSs) -* SRPS1 (Saldino-Noonan) -* SRPS2 (Majewski) -* SRPS3 (Naumoff) -* SRPS4 (Beemer-Langer) References - Steichen-Gersdorf E, Gassner I, Covi B, Fischer H.Oral-facial-digital syndrome II. Transitional type between Mohr and Majewski syndrome: report of a new case with congenital stenosis of the trachea.Clin Dysmorphol. 1994 Jul;3(3):245-50. PMID: 7981861 Related Articles, LinksSilengo MC, Bell GL, Biagioli M, Franceschini P.Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases.Clin Genet. 1987 May;31(5):331-6. PMID: 3608220 [PubMed - indexed for MEDLINE]