STEEL SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: DISLOCATED HIPS AND RADIAL HEADS, CARPAL COALITION, SCOLIOSIS, AND SHORT STATURE
STLS
Number of Symptoms 12
OrphanetNr:
OMIM Id: 615155
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000316) Hypertelorism 644 / 7739
2
(HPO:0000431) Wide nasal bridge 290 / 7739
3
(HPO:0011220) Prominent forehead 137 / 7739
4
(HPO:0003083) Dislocated radial head 35 / 7739
5
(HPO:0002650) Scoliosis 705 / 7739
6
(HPO:0004322) Short stature 1232 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
(OMIM) Cervical spine anomalies 1 / 7739
9
(OMIM) Bilateral talipes cavus 1 / 7739
10
(OMIM) Carpal coalition (fusion of carpal bones) 1 / 7739
11
(OMIM) Long, oval-shaped face 1 / 7739
12
(OMIM) Congenital hip dislocations, resistant to surgical treatment 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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., ...
Clinical Description OMIM Steel et al. (1993) reported 23 children from Puerto Rico with dislocated hips and radial heads, carpal coalition (fusion of carpal bones), and short stature. Carpal coalition was identified radiographically and did not interfere with hand or wrist ...