hypoparathyroidism-retardation-dysmorphism syndrome
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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0800063
primordial dwarfism and slender bone disorder
is_a
HRD
related
HRD syndrome
exact
HRDS
exact
Richardson-Kirk syndrome
exact
SSS
exact
Sanjad-Sakati syndrome
exact
hypoparathyroidism with short stature, intellectual disability and seizures
exact
hypoparathyroidism with short stature, mental retardation, and seizures
related
hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay
related
hypoparathyroidism-intellectual disability-dysmorphism syndrome
exact
hypoparathyroidism-retardation-dysmorphism syndrome
exact
hypoparathyroidism-short stature-intellectual disability-seizures syndrome
exact
SPAC22H10.10