ORPHA:2470
Matthew-Wood syndrome
Synonyms: Anophthalmia-pulmonary hypoplasia syndrome · PDAC syndrome · Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome · Spear syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, genetic congenital malformation syndrome characterized by bilateral anophthalmia (or less commonly microphthalmia) in association with a variable combination of the following: pulmonary hypoplasia or agenesis, congenital diaphragmatic hernia or eventration, and variable cardiovascular defects (congenital heart defects and/or pulmonary artery atresia). Intellectual disability is noted in surviving patients. Other variable malformations affecting different organ systems, as well as facial dysmorphism, may be observed.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Matthew-Wood syndrome | Anophthalmia-pulmonary hypoplasia syndrome · PDAC syndrome · Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome · Spear syndrome |
| fr | Syndrome de Matthew-Wood | Syndrome PDAC · Syndrome d'anophtalmie-hypoplasie pulmonaire · Syndrome d'hypoplasie pulmonaire-hernie diaphragmatique-anophtalmie-cardiopathie · Syndrome de Spear |
| de | Matthew-Wood-Syndrom | Anophthalmie-Lungenhypoplasie-Syndrom · PDAC-Syndrom · Pulmonale Hypoplasie-Zwerchfellhernie-Anophthalmie-Herzfehler-Syndrom · Spear-Syndrom |
| es | Síndrome de Matthew-Wood | Síndrome de anoftalmia-hipoplasia pulmonar · Síndrome de hipoplasia pulmonar-hernia diafragmática-anoftalmia-defecto cardíaco |
| it | Sindrome di Matthew-Wood | Sindrome ipoplasia polmonare-ernia diaframmatica-anoftalmia-cardiopatia · Sindrome PDAC · Sindrome di Spear · Sindrome ipoplasia polmonare-anoftalmia · Anoftalmia - ipoplasia polmonare · MCOPS9 · Microftalmia sindromica, tipo 9 |
| nl | Syndroom van Matthew-Wood | Anoftalmie - pulmonale hypoplasie-syndroom · PDAC-syndroom · Pulmonale hypoplasie - hernia diaphragmatica - anoftalmie - hartdefect-syndroom · Syndroom van Spear |
| pt | Síndrome Matthew-Wood | Síndrome PDAC · Síndrome de anoftalmia-hipoplasia pulmonar · Síndrome de hipoplasia pulmonar-hernia diafragmática-anoftalmia-anomalia cardíaca |
| pl | Zespół Matthew i Wooda | MCOPS9 · Anoftalmia - hipoplazja płuc · Syndromiczna mikroftalmia typu 9 |
| cs | Matthewův-Woodův syndrom | Syndrom zahrnující anoftalmii a plicní hypoplázii · MCOPS9 · Syndromická mikroftalmie, typ 9 · Matthew-Woodův syndrom |
| uk | Синдром Метью-Вуда | Синдром анофтальмії-легеневої гіпоплазії · Синдром PDAC · Синдром гіпоплазії легень-діафрагмальної грижи-анофтальмії- серцевої вади · Синдром Сперса |
| zh | Matthew-Wood综合征 | 无眼畸形-肺发育不全综合征 |
| tr | Matthew-Wood sendromu | MCOPS9 · Sendromik mikroftalmi tip 9 · Anoftalmi-pulmoner hipoplazi sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601186 | E | validated | |
| ICD-10 | Q11.2 | NTBT | attributed | validated |
| ICD-11 | LD21.0 | NTBT | index | validated |
| MONDO | 0011010 | E | validated | |
| MeSH | C537768 | E | validated | |
| UMLS | C1832661 | E | validated | |
| GARD | 713 | 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 (12):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:183622Genetic respiratory malformation
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:108993Non-syndromic respiratory or mediastinal malformation
rare genetic diseases - ORPHA:182111Respiratory malformation
rare respiratory diseases - ORPHA:108979Syndromic diaphragmatic or abdominal wall malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases - ORPHA:180779Syndromic diaphragmatic or thoracic malformation
rare surgical thoracic diseases - ORPHA:202948Syndromic microphthalmia-anophthalmia-coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:108995Syndromic respiratory or mediastinal malformation
rare developmental anomalies during embryogenesis; rare surgical thoracic diseases - ORPHA:182108Thoracic malformation
rare respiratory diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:91129Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome moved to · inactive
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| STRA6 | Disease-causing germline mutation(s) in | Assessed | HGNC:30650 | ENSG00000137868 | 610745 | 15q24.1 | signaling receptor and transporter of retinol STRA6 | 17503335[PMID] |
| WNT7B | Disease-causing germline mutation(s) in | Assessed | HGNC:12787 | ENSG00000188064 | 601967 | 22q13.31 | Wnt family member 7B | 35790350[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 43 cases | Worldwide | Case(s) | Validated | 26373900[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26373900[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
20 annotations · validated 2017-12-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000528 | Anophthalmia | |
| HP:0001249 | Intellectual disability | |
| HP:0000568 | Microphthalmia | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0002088 | Abnormal lung morphology | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0002089 | Pulmonary hypoplasia | |
| Occasional (29-5%) | ||
| HP:0025408 | Abnormal spleen morphology | |
| HP:0000130 | Abnormality of the uterus | |
| HP:0001734 | Annular pancreas | |
| HP:0100800 | Aplasia/Hypoplasia of the pancreas | |
| HP:0000028 | Cryptorchidism | |
| HP:0100867 | Duodenal stenosis | |
| HP:0001508 | Failure to thrive | |
| HP:0000085 | Horseshoe kidney | |
| HP:0001252 | Hypotonia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000369 | Low-set ears | |
| HP:0000089 | Renal hypoplasia | |
| HP:0000076 | Vesicoureteral reflux | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 17236193[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2470
- This record as JSON: /data/d/2470.json