ORPHA:93325
Autosomal dominant Kenny-Caffey syndrome
Publications
515
81.6th percentile
Trials
0
Interventional, condition-specific
Researchers
446
Distinct authors in sample
Gene link
FAM111A
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, primary bone characterized by severe growth retardation, short stature, cortical thickening and medullary stenosis of long bones, delayed closure of the anterior fontanelle, absent diploic space in the skull bones, prominent forehead, macrocephaly, dental anomalies, eye problems (hypermetropia and pseudopapilledema), and hypocalcemia due to hypoparathyroidism, sometimes resulting in convulsions. Intelligence is normal.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007478
- OMIM:127000
- UMLS:C4316787
- NCIT:C130993
Additional Mondo synonyms (5)
KCS2 · Kenny-Caffey syndrome type 2 · Kenny-Caffey syndrome, autosomal dominant · Kenny-Caffey syndrome, type 2 · dwarfism, cortical thickening of tubular bones and transient hypocalcemia
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
Definitive — FAM111A
- LiteraturePresent
515 matched papers (427 in last 10 years) Source
- Phenotype characterisedPresent
52 HPO annotations (e.g. Delayed cranial suture closure; Carious teeth; Papilledema) 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?
Yes — we know a specific gene responsible (FAM111A).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
52
Associated phenotypes · MONDO:0007478
- Delayed cranial suture closure
- Carious teeth
- Papilledema
- Growth delay
- Hypocalcemic seizures
Showing 5 of 52 — 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?
515
515 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.
515 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).
427 in the last 10 years · medium confidence · 81.6th percentile (publications denominator)
Phrase hits: 61 · MeSH hits: 0
Who's working on it?
446
Distinct author names in 61 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.
- 01Bockenhauer D3 papers · 2021
Centre for Nephrology, University College London, London, UK.
Papers in Europe PMC - 02de Baaij JHF3 papers · 2024
Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Papers in Europe PMC - 03Hakonarson H3 papers · 2025
Center for Applied Genomics, Abramson Research Center, The Children’s Hospital of Philadelphia, USA
Papers in Europe PMC - 04Li D3 papers · 2026
Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, No. 9 Jinsui Road, Tianhe District, Guangzhou, 510623, Guangdong, China. lidongzhi2013@aliyun.com.
Papers in Europe PMC - 05Wei X3 papers · 2026
BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China. weixm@bgi.com.
Papers in Europe PMC - 06Ghodke PP2 papers · 2021
Department of Biochemistry, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Papers in Europe PMC - 07Guengerich FP2 papers · 2021
Department of Biochemistry, Vanderbilt University School of Medicine, Nashville, Tennessee, USA. Electronic address: f.guengerich@vanderbilt.edu.
Papers in Europe PMC - 08Hatziagapiou K2 papers · 2026
Division of Endocrinology, Diabetes and Metabolism, ENDO-ERN Center for Rare Pediatric Endocrine Disorders, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital, 11527 Athens, Greece.
Papers in Europe PMC - 09
- 10Jiang Y2 papers · 2023
Department of Endocrinology, Key Laboratory of Endocrinology of the Ministry of Health, Peking Union Medical Collage Hospital, Chinese Academy of Medical Science, Beijing, China.
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.
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 19 · after dedupe 19 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 19 · 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 (19)
- ctis·2025-525073-37-00·Revoked·A study to investigate the safety, tolerability, pharmacokinetics, immunogenicity and pharmacodynamics of a single subcutaneous dose of GSK4771261 in healthy participants aged 25 to 55 years of age inclusive
skipped — LLM skipped (--skip-llm)
- ctis·2025-524313-86-00·11·A single center study to evaluate the safety and tolerability of oral Azathioprine in patients with ADPKD
skipped — LLM skipped (--skip-llm)
- ctis·2025-522343-18-00·Authorised, recruiting·A Phase 2, Randomized, Double-Blind, Placebo-Controlled Trial to Assess the Efficacy and Safety of surlorian (ARM210, S48168) in Adults with Autosomal Dominant RYR1-Related Myopathy
skipped — LLM skipped (--skip-llm)
- ctis·2025-524899-40-00·Authorised, ongoing·A First-in-Human Clinical Trial to Assess the Safety, Tolerability and Pharmacokinetics of MR-L45 in Healthy Adults
skipped — LLM skipped (--skip-llm)
- ctis·2025-523284-37-00·Authorised, ongoing·CHARACTERIZATION OF ASTROCYTE REACTIVITY WITH [18F]F-DED PET IN NEURODEGENERATIVE DISEASES
skipped — LLM skipped (--skip-llm)
- ctis·2024-517393-13-00·Authorised, recruiting·A Phase 2a, Open-label, Single-arm Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of VX-407 in Subjects with Autosomal Dominant Polycystic Kidney Disease Who Have a Subset of PKD1 Gene Variants
skipped — LLM skipped (--skip-llm)
- ctis·2025-521276-59-00·Authorised, recruiting·STOP-PKD: SGLT2-inhibition to improve Prognosis in Polycystic Kidney Disease
skipped — LLM skipped (--skip-llm)
- ctis·2024-517143-31-00·Expired·A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Safety and Efficacy of ABBV-CLS-628 in Adult Subjects with Autosomal Dominant Polycystic Kidney Disease (ADPKD)
skipped — LLM skipped (--skip-llm)
- ctis·2024-516095-15-00·Revoked·A study to evaluate the safety, tolerability, pharmacokinetics and pharmacodynamics of GSK4771261 in healthy participants and participants with autosomal dominant polycystic kidney disease.
skipped — LLM skipped (--skip-llm)
- ctis·2024-517864-49-01·Authorised, ongoing·Metformin versus Tolvaptan in adults with Autosomal Dominant Polycystic Kidney Disease (ADPKD): a phase 3a, independent, multi- centre, 2 parallel arms randomized controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-515734-32-00·Authorised, ongoing·Safety of rotigotine in patients with autosomal dominant polycystic kidney disease - ETERNAL-PKD
skipped — LLM skipped (--skip-llm)
- ctis·2024-513828-42-00·Expired·CERICA - CERebrolysin In CADASIL - A randomized, double-blind, single-centre, two-period cross-over, placebo-controlled trial on safety and efficacy in patients with genetically proven CADASIL
skipped — LLM skipped (--skip-llm)
- ctis·2024-512491-35-00·Authorised, ongoing·Chronic kidney disease – imaging the metabolic derangements with ultra-sensitive MRI
skipped — LLM skipped (--skip-llm)
- ctis·2024-512544-27-00·Cancelled·Treatment of vascular stiffness in patients with autosomal dominant polycystic kidney disease
skipped — LLM skipped (--skip-llm)
- ctis·2023-506290-35-00·Authorised, ongoing·Osprey: An Open-label Study to Investigate the Safety, Tolerability, and Exposure of Single Ascending Doses of the Antisense Oligonucleotide STK-002 in Patients with Autosomal Dominant Optic Atrophy
skipped — LLM skipped (--skip-llm)
- ctis·2023-505890-34-00·Expired·Study of Empagliflozin in Patients with Autosomal Dominant Polycystic Kidney Disease
skipped — LLM skipped (--skip-llm)
- ctis·2023-508743-43-00·Cancelled·Early ablation of atrial fibrillation in patients with hypertrophic cardiomyopathy
skipped — LLM skipped (--skip-llm)
- ctis·2022-501398-38-00·Authorised, recruiting·CALIBRATE: A Phase 3, Randomized, Open-Label Study Evaluating the Efficacy and Safety of Encaleret Compared to Standard of Care in Participants with Autosomal Dominant Hypocalcemia Type 1 (ADH1)
skipped — LLM skipped (--skip-llm)
- ctis·2022-500210-26-00·Authorised, ongoing·HYDROchlorothiazide to PROTECT polycystic kidney disease patients and improve their quality of life (HYDRO-PROTECT)
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 dominant 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 dominant Kenny-Caffey syndrome" OR "Kenny-Caffey syndrome type 2" OR "Kenny-Caffey syndrome, autosomal dominant" OR "Kenny-Caffey syndrome, type 2" OR "dwarfism, cortical thickening of tubular bones and transient hypocalcemia" OR "dwarfism, cortical thickening of the tubular bones and transient hypocalcemia") OR ("FAM111A" OR "FAM111A syndrome" OR "FAM111A-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant Kenny-Caffey syndrome" OR "Kenny-Caffey syndrome type 2" OR "Kenny-Caffey syndrome, autosomal dominant" OR "Kenny-Caffey syndrome, type 2" OR "dwarfism, cortical thickening of tubular bones and transient hypocalcemia" OR "dwarfism, cortical thickening of the tubular bones and transient hypocalcemia"
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; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: KCS2
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T04:15:53.821Z