Synonym(s): - Autosomal dominant spondylocostal dysplasia
Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
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 - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
TBX6	O95947	602427

- Autosomal dominant inheritance
- Intrauterine growth retardation
- Scoliosis
- Short stature / dwarfism / nanism
- Vertebral segmentation anomaly / hemivertebrae

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

- 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