autosomal recessive Kenny-Caffey syndrome
Findings
No curated finding names autosomal recessive Kenny-Caffey syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009486), read 2026-09-29. CC BY 4.0.
Features
22 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Congenital hypoparathyroidismHPOHP:0008198
- Very frequent (80% to 99% of cases)
- HypocalcemiaHPOHP:0002901
- Very frequent (80% to 99% of cases)
- Hypocalcemic seizuresHPOHP:0002199
- Very frequent (80% to 99% of cases)
- Calvarial osteosclerosisHPOHP:0005450
- Frequent (30% to 79% of cases)
- Carious teethHPOHP:0000670
- Frequent (30% to 79% of cases)
- Cortical thickening of long bone diaphysesHPOHP:0005791
- Frequent (30% to 79% of cases)
Show the remaining 10
- Hypocalcemic tetanyHPOHP:0003472
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
- Postnatal growth retardationHPOHP:0008897
- Frequent (30% to 79% of cases)
- Short footHPOHP:0001773
- Frequent (30% to 79% of cases)
- Small handHPOHP:0200055
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TBCEHGNC:11582
- Moderate · Ambry Genetics · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: autosomal recessive Kenny-Caffey syndrome
- Also called
- Kenny-Caffey syndrome type 1Kenny-Caffey syndrome, autosomal recessive