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2 OMIM references -
3 associated genes
18 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 2
1 OMIM reference -
1 associated gene
22 signs/symptoms
WAGR syndrome
Meacham syndrome

BDNF WT1
PAX6
WT1


COMMON
GENES
WT1



Citations in the biomedical literature:


WAGR syndrome
BDNF PAX6 WT1
Meacham syndrome



WAGR syndrome
Meacham syndrome

Synonym(s):
- Deletion 11p13
- Monosomy 11p13
- Wilms tumor - aniridia - genitourinary anomalies - intellectual deficit

Synonym(s):
- Meacham-Winn-Culler syndrome
- Rhabdomyomatous dysplasia - cardiopathy - genital anomalies

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare oncologic disease
- Rare renal disease
- Rare urogenital disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric 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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
2 OMIM references -
2 MeSH references: C538295 / D017624
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Ambiguous genitalia
- Undescended / ectopic testes / cryptorchidia / unfixed testes


WAGR syndrome
Meacham syndrome

Very frequent
- Aniridia / iris hypoplasia
- Intellectual deficit / mental / psychomotor retardation / learning disability

Frequent
- Anomalies of ear and hearing
- Cataract / lens opacification
- Hypospadias / epispadias / bent penis
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Nystagmus
- Protruding lips
- Ptosis
- Short stature / dwarfism / nanism
- Visual loss / blindness / amblyopia

Occasional
- Generalized obesity
- Glaucoma
- Inguinal / inguinoscrotal / crural hernia
- Scoliosis


Very frequent
- Diaphragmatic hernia / defect / agenesis
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Uterine / uterus / Fallopian tubes anomalies
- Vagina anomalies / atresia / hydrometrocolpos / hymen imperforation

Frequent
- Absent lobe / lung / segmentation defect / abnormal lobulation / sequestration
- Death in infancy
- Hypoplastic left heart / ventricle
- Micropenis / small penis / agenesis
- Stillbirth / neonatal death
- Structural and functional anomalies of the spleen

Occasional
- Anomalous pulmonary venous return
- Asplenia / polysplenia / spleen lobulation / accessory spleen
- Atrial septal defect / interauricular communication
- Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus
- Ectopic / horseshoe / fused kidneys
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Patent ductus arteriosus
- Tetralogy of Fallot / trilogy of Fallot
- Transposition of great vessels
- Ventricular septal defect / interventricular communication