ORPHA:93324
Autosomal recessive Kenny-Caffey syndrome
Publications
723
82th percentile
Trials
0
Interventional, condition-specific
Researchers
281
Distinct authors in sample
Gene link
TBCE
Moderate
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, primary bone characterized by and postnatal growth retardation, short stature, cortical thickening and medullary stenosis of the long bones, absent diploic space in the skull bones, hypocalcemia due to the hypoparathyroidism, small hands and feet, delayed mental and motor development, , dental anomalies, and features, including prominent forehead, small deep-set eyes, beaked nose, and micrognathia.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009486
- MeSH:C537021
- OMIM:244460
- UMLS:C1855648
- NCIT:C130992
Additional Mondo synonyms (2)
Kenny-Caffey syndrome type 1 · Kenny-Caffey syndrome, autosomal recessive
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.”
3/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Moderate — TBCE
- LiteraturePresent
723 matched papers (441 in last 10 years) Source
- Phenotype characterisedPresent
45 HPO annotations (e.g. Hypocalcemic seizures; Microcephaly; Hypertelorism) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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?
Probably — there is moderate evidence for TBCE.
GenCC classification: Moderate.
Phenotypes (Monarch / HPO)
45
Associated phenotypes · MONDO:0009486
- Hypocalcemic seizures
- Microcephaly
- Hypertelorism
- Cortical thickening of long bone diaphyses
- Thin long bone diaphyses
Showing 5 of 45 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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?
723
723 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.
723 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).
441 in the last 10 years · high confidence · 82th percentile (publications denominator)
Phrase hits: 40 · MeSH hits: 1
Who's working on it?
281
Distinct author names in 40 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.
- 01Brandi ML2 papers · 2021
Fondazione Italiana Ricerca sulle Malattie dell'Osso (F.I.R.M.O Onlus), 50139 Florence, Italy.
Papers in Europe PMC - 02Diaz GA2 papers · 2002
Department of Human Genetics, Department of Pediatrics, Mount Sinai School of Medicine, One Gustave Levy Place, New York City, New York, 10029, USA. gdiaz@vaxa.crc.mssm.edu
Papers in Europe PMC - 03Gelb BD2 papers · 2002Papers in Europe PMC
- 04
- 05Khan KT2 papers · 2002Papers in Europe PMC
- 06Mathur A2 papers · 2023
Department of Medicine, SMS Medical College, Jaipur, Rajasthan, India.
Papers in Europe PMC - 07Wright JT2 papers · 2023
Department of Pediatric Dentistry, School of Dentistry, The University of North Carolina, Chapel Hill, NC, USA tim_wright@unc.edu.
Papers in Europe PMC - 08Abbaszadegan MR1 paper · 2017
Pardis Clinical and Genetics Laboratory, Mashhad, Iran.
Papers in Europe PMC - 09Abdullah MA1 paper · 2011
The Endocrine Division, Department of Paediatrics and Child Health , Faculty of Medicine, University of Khartoum and Soba University Hospital, Khartoum , Sudan.
Papers in Europe PMC - 10Aboursheid T1 paper · 2014
Department of Pediatrics, Faculty of Medicine, Damascus, Syria.
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.
high 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.
Broader category Kenny-Caffey syndrome also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: Kenny-Caffey syndrome
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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 6 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · dropped 0 · fetched 2026-07-30
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 (5)
- ctis·2024-518972-30-00·Authorised, ongoing·A phase I/II open label study to assess safety, feasibility and efficacy of ex vivo expanded, autologous haematopoietic stem and progenitor cell populations that contain CD34+ cells transduced with a lentiviral vector encoding the TCIRG1 cDNA in children with autosomal recessive osteopetrosis caused by mutations in the TCIRG1 gene.
skipped — LLM skipped (--skip-llm)
- ctis·2024-519535-42-00·Authorised, recruiting·A Phase 1/2, First-in-Human, Open-label, Assessor-Masked, Randomized, Controlled, Dose Escalation/Expansion Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of a Subretinal Injection of SB-007 in Subjects with Stargardt Disease (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ATP Binding Cassette Subfamily A Member 4 (ABCA4) Gene (ASTRA).
skipped — LLM skipped (--skip-llm)
- ctis·2024-512840-52-00·Cancelled·Evaluation of the efficacy and safety of empagliflozin in the treatment of neutropenia in patients with glycogenosis Ib. EMPAtia.
skipped — LLM skipped (--skip-llm)
- ctis·2023-508218-41-00·Authorised, recruiting·A Phase 3b Multicenter Open-label Trial of the Safety, Tolerability, and Efficacy of Tolvaptan in Infants and Children 28 days to less than 18 years of Age with Autosomal Recessive Polycystic Kidney Disease (ARPKD).
skipped — LLM skipped (--skip-llm)
- ctis·2024-511971-13-00·Expired·An open label, non-randomized trial to evaluate the safety and efficacy of a single infusion of OTL-200 in patients with Late Juvenile (LJ) Metachromatic Leukodystrophy (MLD)
skipped — LLM skipped (--skip-llm)
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 Autosomal recessive Kenny-Caffey syndrome — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This 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.
("Autosomal recessive Kenny-Caffey syndrome" OR "Kenny-Caffey syndrome type 1" OR "Kenny-Caffey syndrome, autosomal recessive") OR (MESH:"Kenny-Caffey syndrome, Type 1") OR ("TBCE" OR "TBCE syndrome" OR "TBCE-related")MeSH descriptor terms unioned into the query: Kenny-Caffey syndrome, Type 1
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive Kenny-Caffey syndrome" OR "Kenny-Caffey syndrome type 1" OR "Kenny-Caffey syndrome, autosomal recessive" OR "Kenny-Caffey syndrome, Type 1"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Kenny-Caffey syndrome"
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T04:15:45.571Z