Steel syndrome
Findings
No curated finding names Steel syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described.
Definition from the Mondo Disease Ontology (MONDO:0014061), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
14 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.
- Anteverted naresHPOHP:0000463
- 2 of 2 reported patients
- Carpal synostosisHPOHP:0009702
- 2 of 2 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 2 of 2 reported patients
- Hip dislocationHPOHP:0002827
- 2 of 2 reported patients
- Midface retrusionHPOHP:0011800
- 2 of 2 reported patients
- ScoliosisHPOHP:0002650
- 2 of 2 reported patients
- Short statureHPOHP:0004322
Show the remaining 2
- Pes cavusHPOHP:0001761
- 0 of 2 reported patients
- Abnormality of bone mineral densityMondoHP:0004348
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.
- COL27A1HGNC:22986
- Definitive · G2P · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: Steel syndrome
- Also called
- bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome