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VACTERL/VATER association
1 OMIM reference -
1 associated gene
7 connected diseases
42 signs/symptoms
Disease Type of connection
Brachydactyly type E
Brachydactyly-syndactyly, Zhao type
Syndactyly type 5
Synpolydactyly type 1
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Synonym(s):
- VACTERL association
- VATER association

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

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
External references:
1 OMIM reference -
2 MeSH references: C536495 / C536534

Gene symbol UniProt reference OMIM reference
HOXD13 P35453142989
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