ORPHA:3097
Meacham syndrome
Synonyms: Meacham-Winn-Culler syndrome · Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A very rare disorder of sex development characterized by atypical internal and external genital development, presenting as ambiguous or female-appearing external genitalia despite a 46,XY karyotype. It is also associated with diaphragmatic defects, complex congenital cardiac malformations, pulmonary abnormalities, and, in some cases, splenic and renal anomalies.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Meacham syndrome | Meacham-Winn-Culler syndrome · Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome |
| fr | Syndrome de Meacham | Syndrome de Meacham-Winn-Culler · Syndrome de rhabdomyome-cardiopathie-anomalies génitales |
| de | Meacham-Syndrom | Meacham-Winn-Culler-Syndrom · Rhabdomyomatöse Dysplasia - Kardiopathie - Genitalanomalien |
| es | Síndrome de Meacham | Rabdomioma-cardiopatía-anomalías genitales |
| it | Rabdomioma - cardiopatia - anomalie genitali | Sindrome di Meacham-Winn-Culler |
| nl | Syndroom van Meacham | Rhabdomyomateuze dysplasie - cardiopathie - genitale anomalieën-syndroom · Syndroom van Meacham-Winn-Culler |
| pt | Síndrome Meacham | Síndrome Meacham-Winn-Culler · Síndrome de displasia rabdomiomatosa-cardiopatia-anomalias genitais |
| pl | Zespół Meachama | Dysplazja prążkowanokomórkowa - kardiopatia - wady narządów płciowych · Zespół Meachama, Winna i Cullera |
| cs | Meachamové syndrom | Syndrom zahrnující rhabdomyomatózní dysplázii, kardiopatii a anomálie genitálu · Meachamové-Winnův-Cullerův syndrom · Meacham-Winn-Cullerův syndrom |
| uk | Синдром Мічема | Синдром Мічама-Вінна-Каллера · Синдром рабдоміоматозної дисплазії-кардіопатії-генітальних аномалій |
| zh | Meacham综合征 | 横纹肌瘤性发育不良-心脏病-生殖器异常综合征 |
| tr | Meacham sendromu | Meacham-Winn-Culler sendromu · Rabdomiyomatöz displazi-kardiyopati-genital anomaliler sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608978 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0012164 | E | validated | |
| MeSH | C538162 | E | validated | |
| UMLS | C1837026 | E | validated | |
| GARD | 3432 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:98087Syndrome with 46,XY difference of sex development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases - ORPHA:325638Syndrome with difference of sex development of gynecological interest
rare genetic diseases; rare gynecological and obstetric diseases - ORPHA:180148Syndromic uterovaginal malformation
rare gynecological and obstetric diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| WT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12796 | ENSG00000184937 | 607102 | 11p13 | WT1 transcription factor | 17853480[PMID]_21959952[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 17853480[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17853480[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
25 annotations · validated 2017-08-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011027 | Abnormality of the fallopian tube | |
| HP:0000142 | Abnormality of the vagina | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0000148 | Vaginal atresia | |
| Frequent (79-30%) | ||
| HP:0002101 | Abnormal lung lobation | |
| HP:0000028 | Cryptorchidism | |
| HP:0030010 | Hydrometrocolpos | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0004383 | Hypoplastic left heart | |
| HP:0100632 | Pulmonary sequestration | |
| Occasional (29-5%) | ||
| HP:0001743 | Abnormality of the spleen | |
| HP:0010772 | Anomalous pulmonary venous return | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0001631 | Atrial septal defect | |
| HP:0001680 | Coarctation of aorta | |
| HP:0001710 | Conotruncal defect | |
| HP:0004736 | Crossed fused renal ectopia | |
| HP:0000085 | Horseshoe kidney | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001696 | Situs inversus totalis | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0001669 | Transposition of the great arteries | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3097
- This record as JSON: /data/d/3097.json