ODCs

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1 OMIM reference -
1 associated gene
22 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 4

1 OMIM reference -
3 associated genes
11 signs/symptoms

Autosomal dominant spondylocostal dysostosis

MURCS association

Citations in the biomedical literature:

Autosomal dominant spondylocostal dysostosis		MURCS association
	Synonym(s): - Autosomal dominant spondylocostal dysplasia		Synonym(s): - Klippel-Feil deformity - conductive deafness - absent vagina - MRKH syndrome type 2 - Mayer-Rokitansky-KÃ¼ster-Hauser syndrome type 2 - Mullerian aplasia - renal aplasia - cervicothoracic somite dysplasia

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare renal disease - Rare urogenital disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Short neck - Short stature / dwarfism / nanism - Uterine / uterus / Fallopian tubes anomalies - Vertebral segmentation anomaly / hemivertebrae

Autosomal dominant spondylocostal dysostosis		MURCS association
	Very frequent - Autosomal dominant inheritance - Intrauterine growth retardation - Scoliosis Frequent - Anteverted nares / nostrils - Broad nasal root - Lordosis - Prominent occiput / occipital bossing - 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		Very frequent - Agenesis / hypoplasia / aplasia of kidneys - Ectopic / horseshoe / fused kidneys - Late puberty / hypogonadism / hypogenitalism - Low hair line (back) Frequent - Anomalies of the ribs - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly Occasional - Hearing loss / hypoacusia / deafness