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VACTERL/VATER association

1 OMIM reference -
1 associated gene
42 signs/symptoms

COMMON GENES: 1

Brachydactyly type E

2 OMIM references -
2 associated genes
8 signs/symptoms

VACTERL/VATER association

Brachydactyly type E

HOXD13	(UniProt - OMIM)		HOXD13	(UniProt - OMIM)
			PTHLH	(UniProt - OMIM)


COMMON GENES	HOXD13

Citations in the biomedical literature:

VACTERL/VATER association		Brachydactyly type E
	Synonym(s): - VACTERL association - VATER association		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: neonatal/infancy Average age of death: no data available Type of inheritance: sporadic		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 2 MeSH references: C536495 / C536534		External references: 2 OMIM references - No MeSH references

VACTERL/VATER association		Brachydactyly type E
	Very frequent - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Polyhydramnios - Prematurity - Stillbirth / neonatal death - Tracheal atresia / stenosis - Tracheo-esophageal fistula / esophageal atresia / stenosis Frequent - Agenesis / hypoplasia / aplasia of kidneys - Cardiac septal defect - Congenital cardiac anomaly / malformation / cardiopathy - Diaphragmatic hernia / defect / agenesis - Ectopic / horseshoe / fused kidneys - Laryngomalacia - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Vertebral segmentation anomaly / hemivertebrae Occasional - Ambiguous genitalia - Anencephaly / acrania - Anomalies of the ribs - Anus / rectum anomalies - Bifid scrotum - Cavernous / tuberous hemangioma - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Encephalocele / exencephaly - Gallbladder / common bile duct anomalies - Hypospadias / epispadias / bent penis - Intervertebral disk anomaly - Intrauterine growth retardation - Large fontanelle / delayed fontanelle closure - Lateral cleft lip / gingival cleft / paramedian nasal cleft - Low set ears / posteriorly rotated ears - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Micropenis / small penis / agenesis - Multicystic kidney / renal dysplasia - Omphalocele / exomphalos - Preaxial polydactyly (hand) - Sacro-coccyx / sacrum anomaly - Single umbilical artery - Structural anomalies of the pancreas - Syndactyly of fingers / interdigital palm - Undescended / ectopic testes / cryptorchidia / unfixed testes - Urethral anomalies / stenosis / posterior urethral valves / megalocystis - Uterine / uterus / Fallopian tubes anomalies		Very frequent - Autosomal dominant inheritance - Metacarpal anomalies / Archibald's sign Frequent - Hyperextensible joints / articular hyperlaxity - Short stature / dwarfism / nanism - Terminal / third phalangeal bone of fingers hypoplasia Occasional - Frontal bossing / prominent forehead - Macrocephaly / macrocrania / megalocephaly / megacephaly - Upper limb asymmetry / hemiatrophy / hemihypertrophy