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Familial caudal dysgenesis

1 OMIM reference -
1 associated gene
15 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 6

Caudal regression sequence

1 OMIM reference -
2 associated genes
29 signs/symptoms

Familial caudal dysgenesis

Caudal regression sequence

VANGL1	(UniProt - OMIM)		FUZ	(UniProt - OMIM)
			VANGL1	(UniProt - OMIM)


COMMON GENES	VANGL1

Citations in the biomedical literature:

Familial caudal dysgenesis		Caudal regression sequence
	Synonym(s): - Rudd-Klimek syndrome		Synonym(s): - Caudal dysplasia - Sacral agenesis syndrome - Sacral regression syndrome

	Classification (Orphanet): - Rare abdominal surgical disease - 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 - 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: multigenic/multifactorial

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


COMMON SIGNS	- Agenesis / hypoplasia / aplasia of kidneys - Congenital cardiac anomaly / malformation / cardiopathy - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Sacrococcyx agenesis - Stillbirth / neonatal death

Familial caudal dysgenesis		Caudal regression sequence
	Very frequent - Abnormal vertebral size / shape - Autosomal dominant inheritance - Single umbilical artery Frequent - Anus ectopia / anteposition / malposition - Bladder and ureter anomalies - Oligoamnios - Transposition of great vessels - Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter - Uterine / uterus / Fallopian tubes anomalies		Very frequent - Encopresis / fecal incontinence - Maternal diabetes - Motor deficit / trouble - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Polygenic / multifactorial inheritance - Vertebral segmentation anomaly / hemivertebrae Frequent - Areflexia / hyporeflexia - Ectopic / horseshoe / fused kidneys - Restricted joint mobility / joint stiffness / ankylosis - Scoliosis - Sphincter dysfunction - Talipes-varus / metatarsal varus - Vesicorenal / vesicoureteral reflux Occasional - Ambiguous genitalia - Arnold-Chiari anomaly - Chronic arterial hypertension - Cleft lip and palate - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Renal failure - Rib number anomalies - Undescended / ectopic testes / cryptorchidia / unfixed testes