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Autosomal dominant spondylocostal dysostosis
1 OMIM reference -
1 associated gene
2 connected diseases
22 signs/symptoms
Disease Type of connection
Classic Mayer-Rokitansky-Küster-Hauser syndrome
MURCS association
Synonym(s):
- Autosomal dominant spondylocostal dysplasia

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: no data available
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
TBX6 O95947602427
Very frequent
- Autosomal dominant inheritance
- Intrauterine growth retardation
- Scoliosis
- Short stature / dwarfism / nanism
- Vertebral segmentation anomaly / hemivertebrae

Frequent
- Anteverted nares / nostrils
- Broad nasal root
- Lordosis
- Prominent occiput / occipital bossing
- Short neck
- Short rib cage / thorax
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Occasional
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Congenital cardiac anomaly / malformation / cardiopathy
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Microcephaly
- Repeat respiratory infections
- Rib number anomalies
- Rib structure anomalies
- Sacro-coccyx / sacrum anomaly
- Spina bifida occulta
- Uterine / uterus / Fallopian tubes anomalies