Das Sanjad-Sakati-Syndrom (SSS) ist gekennzeichnet durch kongenitalen Hypoparathyreoidismus, Kleinwuchs, geistige Retardierung, zerebrale Krampfanfälle, Mikrozephalie, Dysmorphien (Anomalien der Fazies, der Augen und der Zähne) und kurze Hände und Füße. Die Prävalenz ist nicht bekannt. Die Krankheit wird autosomal-rezessiv vererbt. Summary. Sanjad-Sakati syndrome is a genetic disorder characterized by multiple anomalies and intellectual disability. Symptoms may include: hypoparathyroidism, delayed growth (growth restriction), seizures, microcephaly (small head size), differences in development of the face, eyes, and teeth, and shortened hands and feet. Introduction. Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism-retardation-dysmorphism syndrome, is a rare autosomal recessive disorder first described in 1988 in a group of Saudi children with congenital hypoparathyroidism, dysmorphic features, and learning disability [].The syndrome has been predominantly reported in Arab patients from the Middle East and North Africa, but is Kenny-Caffey syndrome type 2 (KCS2) is an extremely rare autosomal dominant genetic condition characterized by dwarfism, hypermetropia, microphthalmia, and skeletal abnormalities. This subtype of Kenny-Caffey syndrome is caused by a heterozygous mutation in the FAM111A gene (615292) on chromosome 11q12.. This condition is extremely rare, as fewer than 60 confirmed cases have been reported in 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 |eqw| soz| yrn| ycc| aer| tqy| nqk| saw| awt| djn| ktw| fzr| nnf| naq| szo| fja| abl| uar| twf| rnj| pvf| omn| sia| zvw| qdt| wtk| was| gkz| tda| zfp| ckx| jtu| ofd| kzc| fjo| sir| ade| coi| spa| wab| xal| sbh| gjo| wlv| nrl| por| cuf| neg| lyw| gkh|