1. Diseases
  2. Steel syndrome

Steel syndrome

Disease Export to PDF
Name:
Steel syndrome
Description:
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.
ORPHAcode:
438117
Synonyms:
Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
COL27A1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14