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ORPHA:2323

Sanjad-Sakati syndrome

medium confidenceDisorder

Also known as: HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome · Hypoparathyroidism-short stature-intellectual disability-seizures syndrome · Richardson-Kirk syndrome · SSS

Publications

791

83th percentile

Trials

0

Interventional, condition-specific

Researchers

1,225

Distinct authors in sample

Gene link

TBCE

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - -dysmorphism, is a rare multiple anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, hypoparathyroidism (that can cause hypocalcemic tetany or 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 form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (5)

HRDS · hypoparathyroidism with short stature, intellectual disability and seizures · hypoparathyroidism-intellectual disability-dysmorphism syndrome · hypoparathyroidism-retardation-dysmorphism syndrome · hypoparathyroidism-short stature-intellectual disability-seizures syndrome

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — TBCE

  2. LiteraturePresent

    791 matched papers (482 in last 10 years) Source

  3. Phenotype characterisedPresent

    73 HPO annotations (e.g. Posteriorly rotated ears; Microcephaly; Long philtrum) Source

  4. Animal modelPresent

    4 genotype models (Danio rerio) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (TBCE).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

73

Associated phenotypes · MONDO:0009426

  • Posteriorly rotated ears
  • Microcephaly
  • Long philtrum
  • Micrognathia
  • High forehead

Showing 5 of 73 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

791

791 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

791 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

482 in the last 10 years · medium confidence · 83th percentile (publications denominator)

Phrase hits: 186 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,225

Distinct author names in 186 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Hershkovitz E9 papers · 2022

    Pediatric Endocrinology Unit, Institute of Nuclear Medicine, Department of Clinical Biochemistry, Infectious Diseases Laboratory, Soroka Medical University Center, Ben-Gurion University of the Negev, Beer-Sheva, Israel. elih@bgu.ac.il

    Papers in Europe PMC
  2. 02
    Parvari R7 papers · 2010

    Genetics Institute, Soroka Medical Center, Beer-Sheva, Israel. ruthi@bguvms.bgu.ac.il

    Papers in Europe PMC
  3. 03
    Gorodischer R5 papers · 2007
    Papers in Europe PMC
  4. 04
    Levine MA5 papers · 2025

    Division of Human Genetics and Department of Pediatrics, The Children's Hospital of Philadelphia and The Perelman School of Medicine, Philadelphia, USA.

    Papers in Europe PMC
  5. 05
    Rejnmark L5 papers · 2022

    Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Tage-Hansens Gade 2, 8000 Aarhus, Denmark.

    Papers in Europe PMC
  6. 06
    David O4 papers · 2023

    Pediatric endocrine clinic, Soroka University Medical Center, Beer Sheva, Israel

    Papers in Europe PMC
  7. 07
    Diaz GA4 papers · 2007

    Department of Pediatrics, Mount Sinai School of Medicine, New York, New York 10029, USA. gdiaz@vaxa.crc.mssm.edu

    Papers in Europe PMC
  8. 08
    Ling G4 papers · 2026

    Pediatric ambulatory center, Soroka University Medical Center, Beer Sheva, Israel

    Papers in Europe PMC
  9. 09
    Al-Kindi H3 papers · 2022

    Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman

    Papers in Europe PMC
  10. 10
    Hadad N3 papers · 2023

    Infectious Disease Laboratory, Department of Clinical Biochemistry, Ben-Gurion University of the Negev, Beer Sheva, Israel

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (2)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Sanjad-Sakati syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

("Sanjad-Sakati syndrome" OR "HRD syndrome" OR "Hypoparathyroidism-intellectual disability-dysmorphism syndrome" OR "Hypoparathyroidism-short stature-intellectual disability-seizures syndrome" OR "Richardson-Kirk syndrome" OR "hypoparathyroidism with short stature, intellectual disability and seizures" OR "hypoparathyroidism-retardation-dysmorphism syndrome") OR ("TBCE" OR "TBCE syndrome" OR "TBCE-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Sanjad-Sakati syndrome" OR "HRD syndrome" OR "Hypoparathyroidism-intellectual disability-dysmorphism syndrome" OR "Hypoparathyroidism-short stature-intellectual disability-seizures syndrome" OR "Richardson-Kirk syndrome" OR "hypoparathyroidism with short stature, intellectual disability and seizures" OR "hypoparathyroidism-retardation-dysmorphism syndrome"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: SSS; HRDS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T19:51:30.376Z