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.

Blepharophimosis

A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.


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PMID (PMCID)
16700052
 MIXED_SAMPLE Infant
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.
Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Heron D, Heron B, Benzacken B, Lacombe D, Brunner H, Bitoun P.
Am J Med Genet A. 2006;140(12):1285-96.
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.
12868473
 MALE Infant, Newborn
Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition.
White SM, Ades LC, Amor D, Liebelt J, Bankier A, Baker E, Wilson M, Savarirayan R.
Clin Dysmorphol. 2003;12(2):109-13.
Ohdo syndrome (MIM 249620) is a multiple malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.
10955481
 MALE Infant
A boy with mental retardation, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and Ohdo syndrome.
Marques-de-faria AP, Maciel-Guerra AT, Junior GG, Baptista MT.
Clin Dysmorphol. 2000;9(3):199-204.
A boy with mental retardation, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and Ohdo syndrome.
10631927
 FEMALE
Congenital blepharophimosis and ptosis in a mentally retarded girl: a new case of Ohdo syndrome?
Stoll C.
Genet Couns. 1999;10(4):383-7.
Congenital blepharophimosis and ptosis in a mentally retarded girl: a new case of Ohdo syndrome?
10631927
 FEMALE
Congenital blepharophimosis and ptosis in a mentally retarded girl: a new case of Ohdo syndrome?
Stoll C.
Genet Couns. 1999;10(4):383-7.
A mentally retarded girl with congenital blepharophimosis, ptosis, abnormal teeth and other features consistent with Ohdo syndrome is reported.
9546834
 FEMALE
Congenital ptosis and blepharophimosis in a mentally retarded girl: a new case of Ohdo syndrome?
Rasmussen M, Stromme P.
Clin Dysmorphol. 1998;7(1):61-3.
A mentally retarded girl with congenital blepharophimosis, ptosis, hypoplastic teeth and other traits consistent with Ohdo syndrome is reported.
9546834
 FEMALE
Congenital ptosis and blepharophimosis in a mentally retarded girl: a new case of Ohdo syndrome?
Rasmussen M, Stromme P.
Clin Dysmorphol. 1998;7(1):61-3.
Her mother had had surgery for blepharophimosis as a small child, but did not fulfil the other criteria for Ohdo syndrome.
9546834
 FEMALE
Congenital ptosis and blepharophimosis in a mentally retarded girl: a new case of Ohdo syndrome?
Rasmussen M, Stromme P.
Clin Dysmorphol. 1998;7(1):61-3.
Congenital ptosis and blepharophimosis in a mentally retarded girl: a new case of Ohdo syndrome?
8055131
 MALE Infant, Newborn
A case with blepharophimosis resembling Ohdo syndrome.
Maat-Kievit JA, Milla PJ, Collins JE, Baraitser M, Winter RM.
Clin Dysmorphol. 1994;3(2):125-7.
A case with blepharophimosis resembling Ohdo syndrome.
7519949
 FEMALE Infant
Blepharophimosis, ptosis and mental retardation: further delineation of Ohdo syndrome.
Melnyk AR.
Clin Dysmorphol. 1994;3(2):121-4.
The Ohdo syndrome is characterized by blepharophimosis, ptosis, abnormal ears, and mental retardation.