Details of Disease | DrugMAP

General Information of Disease (ID: DISR2L1K)

Disease Name	Steel syndrome
Synonyms	dislocated hips and radial heads, carpal coalition, scoliosis, and short stature; STLS; bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome; steel syndrome
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.
Disease Hierarchy	DIS1JG9A: Spondyloepiphyseal dysplasia DISR2L1K: Steel syndrome
Disease Identifiers	MONDO ID MONDO_0014061 UMLS CUI C3554594 OMIM ID 615155 MedGen ID 767508 Orphanet ID 438117 SNOMED CT ID 1197589000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL27A1	OTQ5VDRH	Strong	Autosomal recessive	[1]
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References

1	Collagen XXVII organises the pericellular matrix in the growth plate. PLoS One. 2011;6(12):e29422. doi: 10.1371/journal.pone.0029422. Epub 2011 Dec 19.