Edinburgh malformation syndrome
historical
Synonyms: Typus Edinburgensis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- historical
Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Edinburgh malformation syndrome | Typus Edinburgensis |
| fr | Syndrome malformatif d'Édimbourg | = en |
| de | Edinburgh-Fehlbildungssyndrom | Edinburgh-Syndrom |
| es | Síndrome de malformación de Edinburgh | Tipo edimburgués |
| it | Sindrome malformativa di Edimburgo | Tipo Edinburgensis |
| nl | Edinburgh-malformatiesyndroom | = en |
| pt | Síndrome de malformação de Edimburgo | |
| pl | Zespół malformacji Edinburgh | = en |
| cs | Edinburghský syndrom malformace | = en |
| uk | Единбурзький синдром мальформації | = en |
| zh | Edinburgh畸形综合征 | Edinburgh遗传型 |
| tr | Edinburgh malformasyon sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 129850 | E | validated | |
| ICD-10 | Q95.2 | NTBT | attributed | validated |
| MONDO | 0007519 | E | validated | |
| MeSH | C563051 | E | validated | |
| UMLS | C0795933 | E | validated | |
| GARD | 2074 | 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 (2):
- ORPHA:471383Genetic lethal multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases - ORPHA:459787Lethal multiple congenital anomalies/dysmorphic syndrome
rare developmental anomalies during embryogenesis
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 | 2057251[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2057251[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
28 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001608 | Abnormality of the voice | |
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | |
| HP:0000453 | Choanal atresia | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0001508 | Failure to thrive | |
| HP:0002007 | Frontal bossing | |
| HP:0001007 | Hirsutism | |
| HP:0001249 | Intellectual disability | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0000233 | Thin vermilion border | |
| Frequent (79-30%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0002230 | Generalized hirsutism | |
| HP:0000238 | Hydrocephalus | |
| HP:0001276 | Hypertonia | |
| HP:0100807 | Long fingers | |
| HP:0002162 | Low posterior hairline | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0001250 | Seizure | |
| HP:0003196 | Short nose | |
| HP:0001238 | Slender finger | |
| HP:0000664 | Synophrys | |
| Occasional (29-5%) | ||
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0001088 | Brushfield spots | |
| HP:0001387 | Joint stiffness | |
| HP:0000160 | Narrow mouth | |
| HP:0009465 | Ulnar deviation of finger | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1895
- This record as JSON: /data/d/1895.json