hypoparathyroidism-retardation-dysmorphism syndrome
Findings
No curated finding names hypoparathyroidism-retardation-dysmorphism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0009426), read 2026-09-29. CC BY 4.0.
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
41 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Congenital hypoparathyroidismHPOHP:0008198
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Convex nasal ridgeHPOHP:0000444
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Decreased circulating parathyroid hormone levelHPOHP:0031817
- 1 of 1 reported patient
- Deeply set eyeHPOHP:0000490
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TBCEHGNC:11582
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: hypoparathyroidism-retardation-dysmorphism syndrome
- Also called
- HRD syndromeHRDShypoparathyroidism with short stature, intellectual disability and seizureshypoparathyroidism-intellectual disability-dysmorphism syndromehypoparathyroidism-short stature-intellectual disability-seizures syndromeRichardson-Kirk syndromeSanjad-Sakati syndromeSSS