autosomal dominant Kenny-Caffey syndrome
Findings
No curated finding names autosomal dominant Kenny-Caffey syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones.
Definition from the Mondo Disease Ontology (MONDO:0007478), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
36 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.
- HypocalcemiaHPOHP:0002901
- 3 of 3 reported patients
- MicrophthalmiaHPOHP:0000568
- 5 of 5 reported patients
- Prominent foreheadHPOHP:0011220
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Severe short statureHPOHP:0003510
- 5 of 5 reported patients
- Cortical thickening of long bone diaphysesHPOHP:0005791
- Very frequent (80% to 99% of cases)
- Delayed cranial suture closure
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.
- FAM111AHGNC:24725
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2019
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: autosomal dominant Kenny-Caffey syndrome
- Also called
- dwarfism, cortical thickening of tubular bones and transient hypocalcemiaKCS2Kenny-Caffey syndrome type 2Kenny-Caffey syndrome, autosomal dominantKenny-Caffey syndrome, type 2