ORPHA:93325
Autosomal dominant Kenny-Caffey syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
61
55.4th percentile
Trials
0
Interventional, condition-specific
Researchers
446
Distinct authors in sample
Gene link
FAM111A
Definitive
Readiness
2/6
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.”
2/6 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
61 matched papers (56 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
61
61 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
61 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
56 in the last 10 years · medium confidence · 55.4th 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
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"
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" OR "FAM111A" OR "autosomal genetic disease"
Recall-expansion terms: FAM111A, autosomal genetic disease
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: suspect — strategies attempted: phrase, recall-expansion; 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