Details of Disease

General Information of Disease (ID: DISZYT82)

• Disease Name: Hypoparathyroidism-retardation-dysmorphism syndrome
• Synonyms: hypoparathyroidism with short stature, mental retardation, and seizures; hypoparathyroidism, congenital, associated with Dysmorphism, Growth retardation, and developmental delay; hypoparathyroidism with short stature, intellectual disability, and seizures; hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay; HRD; hypoparathyroidism-retardation-dysmorphism syndrome; SSS; HRDS; hypoparathyroidism with short stature, mental retardation and seizures; Sanjad-Sakati syndrome; hypoparathyroidism-intellectual disability-dysmorphism syndrome; Richardson-Kirk syndrome; HRD syndrome; hypoparathyroidism with short stature, intellectual disability and seizures; hypoparathyroidism-short stature-intellectual disability-seizures syndrome
• 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.
• Disease Hierarchy:
  DISZ93BO: Primordial dwarfism and slender bone disorder
  DIS6SVEE: Syndromic disease
  DISCPWH9: Autosomal recessive disease
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISZYT82: Hypoparathyroidism-retardation-dysmorphism syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0009426
  MESH ID: C537157
  UMLS CUI: C1855840
  OMIM ID: 241410
  MedGen ID: 340984
  Orphanet ID: 2323
  SNOMED CT ID: 1197148005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TBCE	OTGBSTKS	Definitive	Autosomal recessive	[1]

References

• [1] Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat Genet. 2002 Nov;32(3):448-52. doi: 10.1038/ng1012. Epub 2002 Oct 21.