McDonough syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- historical
McDonough syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism. There have been no further descriptions in the literature since 1984.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | McDonough syndrome | |
| fr | Syndrome de McDonough | |
| de | McDonough-Syndrom | |
| es | Síndrome de McDonough | |
| it | Sindrome di McDonough | |
| nl | Syndroom van McDonough | |
| pt | Síndrome McDonough | |
| pl | Zespół McDonough | |
| cs | McDonoughových syndrom | |
| uk | Синдром МакДонаха | |
| zh | McDonough 综合征 | |
| tr | McDonough sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 248950 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0009570 | E | validated | |
| MeSH | C538158 | E | validated | |
| UMLS | C0796038 | E | validated | |
| GARD | 3424 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 6147215[PMID]_1189520[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6147215[PMID]_1189520[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.
HPO phenotypes
27 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | |
| HP:0001249 | Intellectual disability | |
| HP:0002808 | Kyphosis | |
| HP:0000400 | Macrotia | |
| HP:0010807 | Open bite | |
| HP:0000448 | Prominent nose | |
| HP:0000336 | Prominent supraorbital ridges | |
| HP:0000411 | Protruding ear | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | |
| HP:0000664 | Synophrys | |
| Frequent (79-30%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0004326 | Cachexia | |
| HP:0000028 | Cryptorchidism | |
| HP:0000689 | Dental malocclusion | |
| HP:0000316 | Hypertelorism | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000347 | Micrognathia | |
| HP:0000767 | Pectus excavatum | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000508 | Ptosis | |
| HP:0012745 | Short palpebral fissure | |
| HP:0000322 | Short philtrum | |
| HP:0000430 | Underdeveloped nasal alae | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2471
- This record as JSON: /data/d/2471.json