/hypoparathyroidism-retardation-dysmorphism syndrome

hypoparathyroidism-retardation-dysmorphism syndrome

Rare Disease

MONDO:0009426

Also Known As

HRD syndromeHRDSRichardson-Kirk syndromeSSSSanjad-Sakati syndromehypoparathyroidism with short stature, intellectual disability and seizureshypoparathyroidism with short stature, mental retardation and seizureshypoparathyroidism-intellectual disability-dysmorphism syndromehypoparathyroidism-retardation-dysmorphism syndromehypoparathyroidism-short stature-intellectual disability-seizures syndromeHRDhypoparathyroidism with short stature, intellectual disability, and seizureshypoparathyroidism with short stature, mental retardation, and seizureshypoparathyroidism, congenital, associated with Dysmorphism, Growth retardation, and developmental delayhypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay

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 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.