SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: SCDO4
Number of Symptoms 20
OrphanetNr:
OMIM Id: 613686
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:0003422) Vertebral segmentation defect 95 / 7739
2
(HPO:0000921) Missing ribs 62 / 7739
3
(HPO:0003298) Spina bifida occulta 67 / 7739
4
(HPO:0002937) Hemivertebrae 41 / 7739
5
(HPO:0010306) Short thorax 10 / 7739
6
(HPO:0002948) Vertebral fusion 28 / 7739
7
(HPO:0003310) Abnormality of the odontoid process 5 / 7739
8
(HPO:0003305) Block vertebrae 7 / 7739
9
(HPO:0002475) Myelomeningocele 29 / 7739
10
(HPO:0000902) Rib fusion 19 / 7739
11
(HPO:0000772) Abnormality of the ribs 146 / 7739
12
(HPO:0001696) Situs inversus totalis 44 / 7739
13
(HPO:0004322) Short stature 1232 / 7739
14
(HPO:0002111) Restrictive deficit on pulmonary function testing 25 / 7739
15
(OMIM) Vertebral artery hypoplasia, unilateral 1 / 7739
16
(OMIM) Restrictive ventilatory defect, moderate 1 / 7739
17
(HPO:0030323) Unilateral vertebral artery hypoplasia 1 / 7739
18
(OMIM) Reduced rib number 2 / 7739
19
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
20
(OMIM) Rib fusion at multiple points 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sparrow et al. (2008) described a consanguineous family of Caucasian Mediterranean origin in which the proband was diagnosed prenatally with hydrocephalus and myelomeningocele, and at birth was found to have a bell-shaped, symmetric, and shortened thorax, lumbosacral myelomeningocele, ...
Molecular genetics OMIM In the proband of a consanguineous family of Caucasian Mediterranean origin with spondylocostal dysostosis mapping to chromosome 17p13, Sparrow et al. (2008) sequenced 2 candidate genes and identified homozygosity for a missense mutation in 1 of them, HES7 ...