Autosomal dominant spondylocostal dysostosis

General Information (adopted from Orphanet):

Synonyms, Signs: SPONDYLOCOSTAL DYSPLASIA, DOMINANT FORM
SPONDYLOTHORACIC DYSOSTOSIS, AUTOSOMAL DOMINANT
COSTOVERTEBRAL SEGMENTATION ANOMALIES POLYDYSSPONDYLY, INCLUDED
SCDO5
Autosomal dominant spondylocostal dysplasia
Number of Symptoms 30
OrphanetNr: 1797
OMIM Id: 122600
ICD-10: Q76.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: No data available
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Dysostosis with predominant vertebral and costal involvement
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0002205) Recurrent respiratory infections Occasional [Orphanet] 254 / 7739
2
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
3
 (HPO:0003521) Disproportionate short-trunk short stature 29 / 7739
4
 (HPO:0003510) Severe short stature 90 / 7739
5
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
6
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
7
 (HPO:0000256) Macrocephaly Occasional [Orphanet] 298 / 7739
8
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
9
 (HPO:0000269) Prominent occiput Frequent [Orphanet] 43 / 7739
10
 (HPO:0000772) Abnormality of the ribs Occasional [Orphanet] 146 / 7739
11
 (HPO:0000921) Missing ribs Occasional [Orphanet] 62 / 7739
12
 (HPO:0000913) Posterior rib fusion 2 / 7739
13
 (HPO:0005257) Thoracic hypoplasia Frequent [Orphanet] 79 / 7739
14
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
15
 (HPO:0005107) Abnormality of the sacrum Occasional [Orphanet] 18 / 7739
16
 (HPO:0002948) Vertebral fusion 23335591 IBIS 28 / 7739
17
 (HPO:0003422) Vertebral segmentation defect Very frequent [Orphanet] 95 / 7739
18
 (HPO:0003419) Low back pain 6 / 7739
19
 (HPO:0002937) Hemivertebrae 23335591 IBIS 41 / 7739
20
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
21
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 23335591 IBIS 705 / 7739
22
 (HPO:0003298) Spina bifida occulta Occasional [Orphanet] 67 / 7739
23
 (HPO:0000130) Abnormality of the uterus Occasional [Orphanet] 86 / 7739
24
 (HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] 185 / 7739
25
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
26
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
27
 (HPO:0000431) Wide nasal bridge Frequent [Orphanet] 290 / 7739
28
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
29
 (OMIM) Progressive low back pain 1 / 7739
30
 (OMIM) Reduced rib number 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Rimoin et al. (1968) reported a family in which father and son and probably 2 preceding generations were short of stature (less than 5 feet), the shortening being mainly in the trunk, and had multiple rib and vertebral ...
Molecular genetics OMIM - Exclusion Studies

In a 3-generation Macedonian family segregating autosomal dominant spondylocostal dysostosis, Gucev et al. (2010) analyzed the 4 genes known to cause recessive forms of SCDO (see 277300) but found no mutations.