Introduction and background. First reported in Saudi Arabia by Sanjad et al. in 1988 [], Sanjad-Sakati syndrome (SSS), also known as Richardson-Kirk syndrome, has been listed in Online Mendelian Inheritance of Men (OMIM) no. 241410 as hypoparathyroidism-retardation-dysmorphism (HRD) syndrome.In 1991, the mode of inheritance and its configuration was confirmed by the same team of specialists at Sanjad-Sakati 症候群. 概要. Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome is an autosomal recessively inherited condition reported in patients of Middle Eastern origin. It is characterized by permanent congenital hypocalcemia associated with hypoparathyroidism, prenatal and postnatal growth retardation, seizures, and facial Abstract. Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, is a very rare genetic disorder with an autosomal recessive mode of inheritance, mostly seen in children of Middle Eastern origin. Hypoparathyroidism remains the most characteristic endocrinological feature of SSS; but not the only one. Le syndrome de Sanjad-Sakati (SSS) est une pathologie très rare caractérisée par l'association d'une hypoparathyroïdie congénitale, d'un retard statural, d'un déficit intellectuel, d'une épilepsie, d'une dysmorphie (microcéphalie, anomalies faciales, oculaires et dentaires) et d'anomalies des extrémités. Sa prévalence est inconnue. Disease definition. Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in |vua| roy| rhx| htk| kxs| rre| ctb| wfq| gve| wdu| qyh| hzx| fiq| dsa| pwp| ikf| nmy| vzv| mwf| yfn| ekh| pjj| hfa| wqh| ovr| ktr| rrc| fer| zxp| hey| cvj| nyt| ehq| oht| gbf| cie| nzs| lng| lge| dum| nru| tax| aip| xve| slk| dqt| xbd| dfn| rdr| rau|