Steel syndrome

Preferred Label : Steel syndrome;

Symbol : STLS;

CISMeF acronym : STLS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dislocated hips and radial heads, carpal coalition, scoliosis, and short stature;

Description : Steel syndrome is characterized by characteristic facies, dislocated hips and radial heads, carpal coalition (fusion of carpal bones), short stature, scoliosis, and cervical spine anomalies. The dislocated hips are resistant to surgical intervention (summary by Flynn et al., 2010).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the collagen, type XXVII, alpha-1 gene (COL27A1, 608461.0001);

Prefixed ID : #615155;

Details

Origin ID

615155;

UMLS CUI

C3554594;

Currated CISMeF NLP mapping
- Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) [SNOMED CT concept]
- Steel syndrome [ORDO Disease]
Genes related to phenotype
- Collagen, type XXVII, alpha-1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Dislocated radial head [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Prominent forehead [HPO term]
- Scoliosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short stature [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Steel syndrome [ORDO Disease]
See also inter- (CISMeF)
- RNF217-AS1 Gene [NCIt concept]
- RNF217-AS1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) [SNOMED CT concept]
- Steel syndrome [ORDO Disease]

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