Blepharophimosis-intellectual disability syndrome, Ohdo type

Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.

Feeding difficulties

Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.


Total: 1

                       


(per page)
PMID (PMCID)
26338144
 MALE Infant
Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.
Langley KG, Brown J, Gerber RJ, Fox J, Friez MJ, Lyons M, Schrier Vergano SA.
Am J Med Genet A. 2015;167A(12):3180-5.
The siblings share some features of Ohdo syndrome, including feeding difficulties, microcephaly, and speech delay.