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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.
Features include always present findings: Long philtrum, Seizure, Congenital hypoparathyroidism, and Thin upper lip vermilion and others. 37 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 5 | Seizure, Enlarged brain ventricles (ventriculomegaly), Intellectual disability |
Growth and development | 3 | Postnatal growth retardation, Decreased response to growth hormone stimulation test, Severe intrauterine growth retardation |
Arms and legs | 2 | Short foot, Small hand |
Head and neck | 2 | Thin upper lip vermilion, Microcephaly |
Bones and joints | 2 | Patchy osteosclerosis, Delayed skeletal maturation |
Pregnancy and birth | 1 | Congenital hypoparathyroidism |
Blood and immune system | 1 | Recurrent bacterial infections |
Muscles | 1 | Axial hypotonia |
Lab test results | 1 | Decreased circulating parathyroid hormone level |
Hormones | 1 | Decreased response to growth hormone stimulation test |
TBCE function has not been fully characterized.
Hypoparathyroidism-retardation-dysmorphism syndrome is associated with mutations in the TBCE gene on chromosome 1.
Genetic testing for TBCE is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for hypoparathyroidism-retardation-dysmorphism syndrome has been reported in the published literature.
Phenotype severity distribution: 15 always present features.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for hypoparathyroidism-retardation-dysmorphism syndrome.
9 publications have been identified in PubMed for hypoparathyroidism-retardation-dysmorphism syndrome. Research spans Case Report / Case Series (44%), Diagnostic / Biomarker (11%), and Review / Meta-Analysis (11%).
Sartorelli J (2026). [PMID: 41833177](https://pubmed.ncbi.nlm.nih.gov/41833177/). *Mol Genet Metab*. [Review / Meta-Analysis]
Abdulaziz G (2026). [PMID: 41878596](https://pubmed.ncbi.nlm.nih.gov/41878596/). *Oxf Med Case Reports*. [Case Report / Case Series]
Tresa V (2026). [PMID: 41769584](https://pubmed.ncbi.nlm.nih.gov/41769584/). *Cureus*. [Clinical Trial Publication]
Sparber P (2025). [PMID: 39657131](https://pubmed.ncbi.nlm.nih.gov/39657131/). *The Journal of clinical endocrinology and metabolism*. [Basic Science / Preclinical]
Simsek E (2025). [PMID: 39911167](https://pubmed.ncbi.nlm.nih.gov/39911167/). *Molecular syndromology*. [Diagnostic / Biomarker]
Ghawil M (2024). [PMID: 39086450](https://pubmed.ncbi.nlm.nih.gov/39086450/). *Journal of pediatric genetics*. [Case Report / Case Series]
Elzain MA (2024). [PMID: 39614931](https://pubmed.ncbi.nlm.nih.gov/39614931/). *Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery*. [Case Report / Case Series]
Bali I (2024). [PMID: 38655381](https://pubmed.ncbi.nlm.nih.gov/38655381/). *JCEM case reports*. [Epidemiology / Natural History]
Benchaib NEH (2024). [PMID: 39246904](https://pubmed.ncbi.nlm.nih.gov/39246904/). *Cureus*. [Case Report / Case Series]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:12 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-curated news mentioning hypoparathyroidism-retardation-dysmorphism syndrome
Updated Sep 8, 2026
A joint meeting of experts focused on hypoparathyroidism has resulted in a resolution addressing the challenges and technological advancements in managing the condition. This gathering highlights the ongoing efforts to improve understanding and treatment options for hypoparathyroidism.
Recent research focuses on translating laboratory findings into clinical applications for hypoparathyroidism. This work aims to improve treatment strategies and patient outcomes for those affected by the condition.
A recent study published in PubMed explores the clinical and genetic characteristics of hypoparathyroidism, deafness, and renal dysplasia syndrome within a chronic kidney disease cohort. This research provides valuable insights into the genetic underpinnings of this rare syndrome.