Ohdo syndrome, SBBYS variant

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Ohdo syndrome, SBBYS variant

An extremely rare (30 cases in the world literature), multi-system, possibly autosomal recessive malformation complex (OMIM:603736) characterised by microcephaly, distinct facies, severe blepharophimosis, an immobile mask-like face, a bulbous nasal tip, and a small mouth with a thin upper lip. It presents in infancy with severe hypotonia and feeding problems. Associated skeletal problems include joint laxity, abnormally long thumbs and great toes, and dislocated or hypoplastic patellae. Structural cardiac defects are present in around 50% of cases, as well as dental anomalies such as small and pointed teeth. Affected individuals may have defects in thyroid structure or function. SBBYSS is usually associated with severe mental retardation, delayed motor milestones, significantly impaired speech, hearing impairment, abnormal ears and growth retardation. Male patients may have cryptorchidism and scrotal hypoplasia.

Molecular pathology
Defects in KAT6B, which encodes a histone acetyltransferase that can either up- or downregulate transcription, cause Ohdo syndrome.
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The brave youngster suffers from Ohdo Syndrome and Ataxia, conditions which have severely affected her physical and mental development.
Hope was diagnosed with the rare condition Ohdo Syndrome as a baby.
Maggie and his dad, 54-yearold salesman John McNamara, are currently undergoing genetic tests for the condition Ohdo Syndrome to see if they carry the gene.
Team leader Liam Mulcahy lost 1st 11lbs for Ronald McDonald House which provided a home for him and his wife Stacey whilst their daughter Sophie, who had rare disorder Ohdo syndrome, was being cared for in Crumlin Hospital.
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.
Sophie, 3, from Limerick, suffers from Ohdo Syndrome, a condition so rare only 30 people in the entire world have it.
Doctors and therapists who have experience with children with Ohdo Syndrome will be at the conference discussing medical knowledge and therapeutic strategies with each other and with the parents.
Ohdo Syndrome is named after the Japanese doctor who first classified it in the 1980s.
Little Hope suffers from a rare condition called Ohdo Syndrome, which has massively affected her physical and mental development.
Stacey Mulcahy's daughter Sophie is the only child in Ireland with OHDO Syndrome.
Until recently, there were fewer than a dozen cases of Ohdo syndrome reported in the medical literature.
The Marske tot had Ohdo Syndrome - a genetic defect so rare it was classified only in the mid-1980s by the Japanese doctor who detected it.