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autosomal dominant Kenny-Caffey syndrome (KCS2) - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Severe short stature, Prominent forehead, Microphthalmia, and Hypocalcemia; and common findings: Hypermetropia and Abnormally high-pitched voice. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	3	Abnormality of the medullary cavity of the long bones, Increased bone density (increased bone mineral density), Thickened cortex of long bones
Brain and nerves	2	Seizure, Intellectual disability
Eyes	2	Developmental cataract, Retinal calcification
Growth and development	1	Severe short stature
Blood and immune system	1	Low red blood cell count (anemia)
Head and neck	1	Macrocephaly

GeneReviews

Clinical Guidance

FAM111A-related skeletal dysplasias include the milder phenotype of Kenny-Caffey syndrome (KCS) and a more severe lethal phenotype, osteocraniostenosis (OCS). To date, at least 35 individuals have been identified with a FAM111A-related skeletal dysplasia [, , , , , , , , , , , , , , , , , , , ]. The following description of the phenotypic features associated with these conditions are based on these reports. Table 2. FAM111A-Related Skeletal Dysplasias: Comparison of Phenotypes by Select Features Feature | Proportion of Persons w/Feature Kenny-Caffey syndrome(22 reported)1 | Osteocraniostenosis(13 reported)1 Anthropometric

Intrauterine growth deficiency	3/15	9/10
Short stature	19/20	6/6
Microcephaly	4/20

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for FAM111A-related skeletal dysplasias have been published.

Suggestive Findings

FAM111A-related skeletal dysplasias include the milder phenotype of Kenny-Caffey syndrome and a more severe lethal phenotype, osteocraniostenosis. A FAM111A-related skeletal dysplasia should be suspected in probands with a combination of the following clinical, imaging, and laboratory findings:

Kenny-Caffey Syndrome

Clinical findings

Source: GeneReviews — "FAM111A-Related Skeletal Dysplasias"

GeneReviews

Differential Diagnosis

Genes of interest in the differential diagnosis of Kenny-Caffey syndrome (KCS) are summarized in . Table 3a. Genes of Interest in the Differential Diagnosis of Kenny-Caffey Syndrome

Gene	Disorder	MOI	Features of Differential Diagnosis Disorder
LRP5	Osteosclerosis (OMIM 144750)	AD	Sclerosis of long bones; Dental manifestations
SOST	SOST-related sclerosing bone dysplasias (incl sclerosteosis van Buchem disease)

Genetic testing for FAM111A is available. Testing is considered confirmatory for diagnosis.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for autosomal dominant Kenny-Caffey syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for FAM111A-related skeletal dysplasias have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with a FAM111A-related skeletal dysplasia, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with a FAM111A-Related Skeletal Dysplasia

System/Concern	Evaluation	Comment
Constitutional	Growth assessment incl height, weight, body mass index growth velocity, limb proportions, upper-to-lower body segment proportions	Respiratory
Ophthalmologic	Ophthalmology exam	Eval for refractive errors, microphthalmia, astigmatism, pseudopapilledema, cataract
Dental	Dental assessment	When teeth erupt, preferably by age 2-3 yrs Hematologic
Developmental	Developmental assessment to incl motor, adaptive, cognitive, speech-language eval	In those w/OCS; As needed in those w/KCS; note almost all affected persons had normal development cognition Psychosocial
Genetic counseling	By genetics professionals1

Source: GeneReviews — "FAM111A-Related Skeletal Dysplasias"

Clinical Trials

View trials for autosomal dominant Kenny-Caffey syndrome

Explore Trials

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 6. Recommended Surveillance for Individuals with a FAM111A-Related Skeletal Dysplasia

System/Concern	Evaluation	Frequency
Constitutional	Measurement of linear growth, weight, upper-to-lower body segment proportions	At each visit /or annually Musculoskeletal
Ophthalmologic	Ophthalmology exam to assess for changes in refractive errors cataracts	Annually or as indicated
Dental	Dental exam	Every 6 mos
Hematologic	Assess for clinical manifestations of anemia.	At each visit CBC
Development	Monitor developmental progress educational needs.	At each visit throughout childhood
Psychosocial concerns	Assess for changes in mood, affect, /or psychosocial stressors.	At each visit Family/Community

Source: GeneReviews — "FAM111A-Related Skeletal Dysplasias"

Phenotype severity distribution: 4 always present features, 2 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for autosomal dominant Kenny-Caffey syndrome.

10 publications have been identified in PubMed for autosomal dominant Kenny-Caffey syndrome. Research spans Review / Meta-Analysis (40%), Case Report / Case Series (40%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Research summaries	4	40%
Patient case studies	4	40%
Laboratory research	2	20%

Recent Publications

Djordjevic Milosevic M (2026). [PMID: 41891992](https://pubmed.ncbi.nlm.nih.gov/41891992/). *Diseases*. [Review / Meta-Analysis]
Hatziagapiou K (2026). [PMID: 41901222](https://pubmed.ncbi.nlm.nih.gov/41901222/). *Pharmaceuticals (Basel)*. [Review / Meta-Analysis]
Özer G (2026). [PMID: 41842913](https://pubmed.ncbi.nlm.nih.gov/41842913/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]
Bonde LD (2025). [PMID: 39501122](https://pubmed.ncbi.nlm.nih.gov/39501122/). *Journal of human genetics*. [Basic Science / Preclinical]
Li D (2025). [PMID: 39932783](https://pubmed.ncbi.nlm.nih.gov/39932783/). *JCI insight*. [Basic Science / Preclinical]
Doğan Arı AB (2025). [PMID: 41607649](https://pubmed.ncbi.nlm.nih.gov/41607649/). *Molecular syndromology*. [Case Report / Case Series]
Chen X (2024). [PMID: 38591167](https://pubmed.ncbi.nlm.nih.gov/38591167/). *Molecular genetics & genomic medicine*. [Case Report / Case Series]
Tonelli L (2024). [PMID: 38679371](https://pubmed.ncbi.nlm.nih.gov/38679371/). *European journal of medical genetics*. [Review / Meta-Analysis]
Zou X (2024). [PMID: 39305175](https://pubmed.ncbi.nlm.nih.gov/39305175/). *Acta oto-laryngologica*. [Review / Meta-Analysis]
Hatziagapiou K (2024). [PMID: 39797201](https://pubmed.ncbi.nlm.nih.gov/39797201/). *Journal of clinical medicine*. [Case Report / Case Series]

Kisho

autosomal dominant Kenny-Caffey syndrome

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

A rare case of severe short stature diagnosed after late-onset hypocalcemia: Kenny-Caffey syndrome type 2.

autosomal dominant Kenny-Caffey syndrome

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

A rare case of severe short stature diagnosed after late-onset hypocalcemia: Kenny-Caffey syndrome type 2.