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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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.
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.
We expect this to be a great learning experience for parents and professionals" said Mary FitzZaland of Sidney British Columbia, one of the conference organizers and parent of a child with Ohdo syndrome.
Ohdo Syndrome is named after the Japanese doctor who first classified it in the 1980s.
For more information, contact the Ohdo Syndrome Family Network at 36 Borrowdale Avenue, Gatley, Cheadle SK8 4QF, tel 0161 428 8583, or visit http://www.
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.
Importantly, the autism diagnosis also put us in touch with the doctors who would eventually diagnose Wade with Ohdo syndrome.
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.