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Thoracolumbosacral spina bifida cystica

6 associated genes
No signs/symptoms info

COMMON GENES: 1

Familial caudal dysgenesis

1 OMIM reference -
1 associated gene
15 signs/symptoms

Thoracolumbosacral spina bifida cystica

Familial caudal dysgenesis

FUZ	(UniProt - OMIM)		VANGL1	(UniProt - OMIM)
MTHFD1	(UniProt - OMIM)
MTHFR	(UniProt - OMIM)
T	(UniProt - OMIM)
VANGL1	(UniProt - OMIM)
VANGL2	(UniProt - OMIM)


COMMON GENES	VANGL1

Citations in the biomedical literature:

Thoracolumbosacral spina bifida cystica		Familial caudal dysgenesis
	Synonym(s): (no synonyms)		Synonym(s): - Rudd-Klimek syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: multigenic/multifactorial		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal dominant

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

Familial caudal dysgenesis
	Very frequent - Abnormal vertebral size / shape - Autosomal dominant inheritance - Congenital cardiac anomaly / malformation / cardiopathy - Single umbilical artery Frequent - Agenesis / hypoplasia / aplasia of kidneys - Anus ectopia / anteposition / malposition - Bladder and ureter anomalies - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Oligoamnios - Sacrococcyx agenesis - Stillbirth / neonatal death - Transposition of great vessels - Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter - Uterine / uterus / Fallopian tubes anomalies
Thoracolumbosacral spina bifida cystica
(no data available)