| syndroom van Richardson-Kirk
syndroom van hypoparathyroïdie, kleine gestalte, verstandelijke beperking en convulsies
syndroom van hypoparathyreoïdie, kleine gestalte, verstandelijke beperking en convulsies
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| Hypoparathyroidism, intellectual disability, dysmorphism syndrome
SSS - Sanjad Sakati syndrome
Richardson Kirk syndrome
Hypoparathyroidism, short stature, intellectual disability, seizures syndrome
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| 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 infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features. |
