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

Rare Disease

autosomal recessive Kenny-Caffey syndrome

MONDO:0009486

Also known as:Kenny-Caffey syndrome type 1Kenny-Caffey syndrome, autosomal recessiveKCS1

Overview

An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.

GeneticsAutosomal recessive · TBCE (chr 1)

ResearchLimited published research (4 articles)

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.

Features include: Carious teeth, Long clavicles, Delayed closure of the anterior fontanelle, and Short foot and 19 more.

Organ System	Phenotype Count	Example Features
Bones and joints	3	Delayed skeletal maturation, Slender long bone, Calvarial osteosclerosis

Genetic Landscape

TBCE function has not been fully characterized.

Autosomal recessive Kenny-Caffey syndrome is associated with mutations in the TBCE gene on chromosome 1.

Diagnosis

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

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 recessive Kenny-Caffey syndrome.

4 publications have been identified in PubMed for autosomal recessive Kenny-Caffey syndrome. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).

Recent Publications

Sparber P (2025). [PMID: 39657131](https://pubmed.ncbi.nlm.nih.gov/39657131/). *J Clin Endocrinol Metab*. [Case Report / Case Series]
Badura-Stronka M (2025). [PMID: 39153170](https://pubmed.ncbi.nlm.nih.gov/39153170/). *J Appl Genet*. [Review / Meta-Analysis]
Li D (2025). [PMID: 39932783](https://pubmed.ncbi.nlm.nih.gov/39932783/). *JCI Insight*. [Basic Science / Preclinical]
Lo Bianco M (2025). [PMID: 40369764](https://pubmed.ncbi.nlm.nih.gov/40369764/). *Clin Exp Pediatr*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:244460

Orphanet

European rare disease database

Orphanet:93324

GARD

Genetic and Rare Diseases Info Center

GARD:8367

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

autosomal recessive Kenny-Caffey syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

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

autosomal recessive Kenny-Caffey syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

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