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orofaciodigital syndrome type 2

Saturday 21 January 2006

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]