orofaciodigital syndrome type 2

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]