Meacham syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Rhabdomyomatous dysplasia - cardiopathy - genital anomalies
Meacham-Winn-Culler syndrome
Number of Symptoms 21
OrphanetNr: 3097
OMIM Id: 608978
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 15 cases [Orphanet]
Inheritance:
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with 46,XY disorder of sex development
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare urogenital disease
Syndrome with disorder of sex development of gynecological interest
 -Rare genetic disease
 -Rare gynecologic or obstetric disease
Syndromic uterovaginal malformation
 -Rare gynecologic or obstetric disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
 (HPO:0000142) Abnormality of the vagina Very frequent [Orphanet] 24 / 7739
3
 (HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 64 / 7739
4
 (HPO:0000062) Ambiguous genitalia Very frequent [Orphanet] 74 / 7739
5
 (HPO:0000054) Micropenis Frequent [Orphanet] 257 / 7739
6
 (HPO:0000130) Abnormality of the uterus Very frequent [Orphanet] 86 / 7739
7
 (HPO:0000775) Abnormality of the diaphragm Very frequent [Orphanet] 62 / 7739
8
 (HPO:0001743) Abnormality of the spleen Frequent [Orphanet] 37 / 7739
9
 (HPO:0001651) Dextrocardia Occasional [Orphanet] 38 / 7739
10
 (HPO:0010772) Anomalous pulmonary venous return Occasional [Orphanet] 11 / 7739
11
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
12
 (HPO:0001669) Transposition of the great arteries Occasional [Orphanet] 36 / 7739
13
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
14
 (HPO:0004383) Hypoplastic left heart Frequent [Orphanet] 29 / 7739
15
 (HPO:0012303) Abnormality of the aortic arch Occasional [Orphanet] 57 / 7739
16
 (HPO:0001636) Tetralogy of Fallot Occasional [Orphanet] 104 / 7739
17
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
18
 (HPO:0002101) Abnormal lung lobation Frequent [Orphanet] 33 / 7739
19
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Very frequent [Orphanet] 79 / 7739
20
 (HPO:0001522) Death in infancy Frequent [Orphanet] 275 / 7739
21
 (HPO:0011420) Death Frequent [Orphanet] 184 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Meacham et al. (1991) reported 2 unrelated genetic males with a novel constellation of genital, cardiac, and pulmonary malformations. The genital abnormalities consisted of a true double vagina, retention of mullerian structures, and undervirilization of the external genitalia. ...
Molecular genetics OMIM In 2 patients with Meacham syndrome, Suri et al. (2007) identified heterozygous mutations in the WT1 gene (R366W, 607102.0026 and R394W, 607102.0003); neither patient had congenital heart defects. DNA material from 6 other patients with this disorder was ...