SPONDYLOSPINAL THORACIC DYSOSTOSIS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr:
OMIM Id: 601809
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000347) Micrognathia 426 / 7739
2
(HPO:0000327) Hypoplasia of the maxilla 129 / 7739
3
(HPO:0010306) Short thorax 10 / 7739
4
(HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
5
(HPO:0001040) Multiple pterygia 5 / 7739
6
(HPO:0002089) Pulmonary hypoplasia 80 / 7739
7
(OMIM) Severe arthrogryposis 2 / 7739
8
(OMIM) Fused spinous processes 1 / 7739
9
(OMIM) Short, curved spine 1 / 7739
10
(OMIM) 'Crab-like' configuration of ribs 1 / 7739
11
(OMIM) Spondylospinal thoracic dysostosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 2 sibs, Johnson et al. (1997) described an apparently 'new' syndrome of spondylospinal thoracic dysostosis with a short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, pulmonary hypoplasia, severe ...