Keutel syndrome
Findings
No curated finding names Keutel syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Keutel syndrome is characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.
Definition from the Mondo Disease Ontology (MONDO:0009495), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
28 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.
- Depressed nasal bridgeHPOHP:0005280
- 15 of 15 reported patients
- Very frequent (80% to 99% of cases)
- Midface retrusionHPOHP:0011800
- 12 of 12 reported patients
- Very frequent (80% to 99% of cases)
- Shortening of all distal phalanges of the fingersHPOHP:0006118
- 20 of 20 reported patients
- Wide nasal bridgeHPOHP:0000431
- 15 of 15 reported patients
- Calcification of cartilageHPOHP:0100593
- Very frequent (80% to 99% of cases)
- Long faceHPOHP:0000276
- Very frequent (80% to 99% of cases)
Show the remaining 16
- Global developmental delayHPOHP:0001263
- 10 of 17 reported patients
- Frequent (30% to 79% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Frequent (30% to 79% of cases)
- Pulmonary arterial hypertensionHPOHP:0002092
- Frequent (30% to 79% of cases)
- Recurrent respiratory infectionsHPOHP:0002205
- Frequent (30% to 79% of cases)
- Recurrent sinusitisHPOHP:0011108
- Frequent (30% to 79% of cases)
- Sloping foreheadHPOHP:0000340
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.
- MGPHGNC:7060
- Definitive · ClinGen · Autosomal recessive · 2025
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Ambry Genetics · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: Keutel syndrome
- Also called
- pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome