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.

Joint laxity

Lack of stability of a joint.


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PMID (PMCID)
15127758
 MALE Infant
Skeletal manifestations in Ohdo syndrome: a case with bilateral patella dislocations.
Day R, Fryer A.
Clin Dysmorphol. 2004;13(1):17-9.
A review of the skeletal manifestations reported in the literature on Ohdo syndrome reveals that joint laxity and skeletal deformities are important aspects of the phenotype.