How rare is Kenny-Caffey syndrome?

Kenny-Caffey syndrome is classified as very rare. The estimated prevalence is approximately <1 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Kenny-Caffey syndrome diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Kenny-Caffey syndrome?

Information about treatment is currently limited for this condition.

What complications can arise from Kenny-Caffey syndrome?

Kenny-Caffey syndrome can lead to complications like hypoparathyroidism, which causes low calcium levels in the blood. This can affect how the body functions and may lead to issues like muscle cramps or spasms. Additionally, the changes in bones may result in pain or mobility challenges.

How does Kenny-Caffey syndrome affect daily life?

Living with Kenny-Caffey syndrome may mean dealing with short stature and changes in bone structure, which can impact daily activities. People might need to adapt their environment to ensure safety and comfort. Regular check-ups can help manage symptoms and monitor calcium levels.

What is the life expectancy for someone with Kenny-Caffey syndrome?

The specific life expectancy for individuals with Kenny-Caffey syndrome is not well-documented. However, managing symptoms like hypoparathyroidism and any related complications can help improve quality of life. Regular medical care is important for monitoring health.

Are there any specialists recommended for managing Kenny-Caffey syndrome?

While specific specialist recommendations are not provided, individuals with Kenny-Caffey syndrome may benefit from seeing an endocrinologist for issues related to calcium levels and hypoparathyroidism. An orthopedic specialist might also be helpful for bone-related concerns. Regular follow-ups with healthcare providers can ensure comprehensive care.

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Kenny-Caffey syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Kenny-Caffey syndrome

MONDO:0016516

Also known as:Kenny syndrome

Overview

A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

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

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

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 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

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

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 Kenny-Caffey syndrome.

14 publications have been identified in PubMed for Kenny-Caffey syndrome. Research spans Case Report / Case Series (43%), Review / Meta-Analysis (29%), and Basic Science / Preclinical (21%).

Research Type	Count	% of Total
Patient case studies	6	43%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 3:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2333

GARD

Genetic and Rare Diseases Info Center

GARD:16594

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Kenny-Caffey syndrome

Kenny-Caffey syndrome is a genetic condition that affects the bones and other parts of the body. People with this condition may have unusual changes in their long bones, including increased thickness and hardening (sclerosis), as well as short stature. There can also be differences in the size and shape of the head and eyes. A common finding in affected individuals is hypoparathyroidism, which can lead to low levels of calcium in the blood.

Common signs and symptoms include thickening and hardening of the long bones, short stature, and anomalies affecting the head and eyes. Many people with this condition also experience hypoparathyroidism with low calcium levels, which can affect various body functions.

Kenny-Caffey syndrome is a genetic condition, which means it is caused by changes in genes. However, specific details about the genes involved or other risk factors are not available from the provided information. Associated genes include TBCE, FAM111A.

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Intrauterine growth deficiency	3/15	9/10
Short stature	19/20	6/6
Microcephaly	4/20	3/4
Craniofacial	Large anterior fontanelle/ delayed anterior fontanelle closure	13/19
Craniosynostosis	3/20	1/1
Frontal bossing or prominent forehead	17/19	4/4
Triangular face	10/15	2/3
Short palpebral fissures	11/18	1/2
Midface retrusion	5/16	1/1
Low-set ears	4/15	4/5
Short nose /or narrow nasal ridge	5/15	4/4
Micrognathia or microretrognathia	10/16	3/3
Skeletal	Cloverleaf-shaped skull	0/22
Decreased skull ossification	3/11	10/10
Slender long bones	3/21	9/9
Cortical thickening of long bones	21/21	7/7
Stenosis of medullary cavity of long bones	21/21	7/7
Flared metaphyses	0/16	9/9
Thin ribs	1/21	4/6
Thoracic hypoplasia	0/19	2/4
Acromicria	2/21	1/1
Fractures	0/21	3/10
Endocrine	Primary hypoparathyroidism w/hypocalcemia hyperphosphatemia	20/22
Ophthalmologic	Microphthalmia	1/19
Refractive errors2	15/18	NA
Papilledema/pseudopapilledema	2/19	NA
Dental	Defective dentition3	8/12
Dental caries	4/11	NA
Loss of secondary dentition	3/10	NA NA = not applicable or insufficient information due to osteocraniostenosis being a perinatally lethal condition 1. , , , , , , , , , , , , , , , , , , , 2. Refractive errors include hyperopia, myopia, and astigmatism.

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)	AR	Diaphyseal sclerosis; Frontal bossing
TBXAS1	Hematodiaphyseal dysplasia Ghosal (OMIM 231095)	AR	Cortical hyperostosis
TGFB1	Camurati-Engelmann disease (diaphyseal dysplasia Camurati-Engelmann)	AD	Frontal bossing; Sclerosis/ cortical thickening of long bones; Medullary stenosis of long bones
TBCE	Sanjad-Sakati syndrome (OMIM 241410)	AR	Short stature; Delayed anterior fontanelle closure; Frontal bossing/ prominent forehead; Micrognathia; Micropenis/cryptorchidism; Low parathyroid hormone; Hypocalcemia; Medullary stenosis of tubular bones; Thin long bones; Patchy osteosclerosis

Source: GeneReviews — "FAM111A-Related Skeletal Dysplasias"

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	To obtain a pedigree inform affected persons their families re nature, MOI, implications of FAM111A-related skeletal dysplasias to facilitate medical personal decision making Family support resources
Treatment of Manifestations in Individuals with a FAM111A-Related Skeletal Dysplasia Manifestation/Concern	Treatment	Considerations/Other Respiratory disease
Hypocalcemia	Supplemental calcium activated forms of vitamin D (calcitriol or alfacalcidol) per endocrinologist	Hypocalcemic seizure can be present in early neonatal period.; Maintenance of normal serum calcium phosphorus is recommended to minimize risk of developing cataracts intracerebral calcification.
Ophthalmologic	Mgmt of refractive errors cataract per ophthalmologist	—
Dental manifestations	Treatment per dentist /or oral surgeon	Short stature
Scoliosis	Conservative or surgical treatment per orthopedist /or neurosurgeon	In 2 adults w/KCS, severe torticollis scoliosis were managed conservatively.2
Development	Individualized developmental support by allied health clinicians	Psychosocial

Kisho

Kenny-Caffey syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Differential Diagnosis

Clinical Trials

Recent Publications

Latest News & Developments

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

Kenny-Caffey syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Kenny-Caffey syndrome?

What are the symptoms of Kenny-Caffey syndrome?

What causes Kenny-Caffey syndrome?

How rare is Kenny-Caffey syndrome?

How is Kenny-Caffey syndrome diagnosed?

Are there treatments for Kenny-Caffey syndrome?

What complications can arise from Kenny-Caffey syndrome?

How does Kenny-Caffey syndrome affect daily life?

What is the life expectancy for someone with Kenny-Caffey syndrome?

Are there any specialists recommended for managing Kenny-Caffey syndrome?

Differential Diagnosis

Clinical Trials

Recent Publications

Latest News & Developments

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