WebbSummary. Rubinstein-Taybi syndrome (RTS) is a syndrome characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degrees of … WebbRubinstein-Taybi syndrome (RTS) is a genetic disease. It involves broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability. …

down syndrome - National Library of Medicine Search Results

WebbSepto-optic dysplasia (SOD), known also as de Morsier syndrome, is a rare congenital malformation syndrome that features a combination of the underdevelopment of the optic nerve, pituitary gland dysfunction, and absence of the septum pellucidum (a midline part of the brain). Two or more of these features need to be present for a clinical diagnosis — … WebbRubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated ... Some individuals with EP300-RSTS have normal intellect. Additional features include ocular abnormalities, hearing loss, respiratory difficulties, congenital heart defects, renal abnormalities, cryptorchidism, feeding problems ... gold yellow shoes

Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein …

Webb1 jan. 2000 · We report a two-year old male patient, with Rubinstein-Taybi syndrome, phenylketonuria and hepatoblastoma. The patient, GP, was the first child of a 35-year old gravida 2 para 0-0-1-0 mother. The ... Webb• Hearing o Frequent otitis media o Mild hearing loss • Dental o Talon cusps, an accessory cusp-like structure on the lingual side of the tooth, usually occurring on the maxillary … WebbRubinstein-Taybis syndrom är endast ärftligt i enstaka fall. Detta beror på att en av föräldrarna är bärare av en så kallad submikroskopisk deletion, det vill säga avsaknad av … head start vision screening requirements