Edinburgh malformation syndrome
disease diseaseOn this page
Also known as typus Edinburgensis
Summary
Edinburgh malformation syndrome (MONDO:0007519) is a disease. A subtype of hereditary lethal multiple congenital anomalies/dysmorphic syndrome — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 28
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 2 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
28 HPO clinical features (Orphanet curated; top 28 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000233 | Thin vermilion border | Very frequent (80-99%) |
| HP:0000453 | Choanal atresia | Very frequent (80-99%) |
| HP:0001007 | Hirsutism | Very frequent (80-99%) |
| HP:0001249 | Intellectual disability | Very frequent (80-99%) |
| HP:0001508 | Failure to thrive | Very frequent (80-99%) |
| HP:0001608 | Abnormality of the voice | Very frequent (80-99%) |
| HP:0002007 | Frontal bossing | Very frequent (80-99%) |
| HP:0002093 | Respiratory insufficiency | Very frequent (80-99%) |
| HP:0002714 | Downturned corners of mouth | Very frequent (80-99%) |
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | Very frequent (80-99%) |
| HP:0000238 | Hydrocephalus | Frequent (30-79%) |
| HP:0000347 | Micrognathia | Frequent (30-79%) |
| HP:0000369 | Low-set ears | Frequent (30-79%) |
| HP:0000463 | Anteverted nares | Frequent (30-79%) |
| HP:0000664 | Synophrys | Frequent (30-79%) |
| HP:0001238 | Slender finger | Frequent (30-79%) |
| HP:0001250 | Seizure | Frequent (30-79%) |
| HP:0001276 | Hypertonia | Frequent (30-79%) |
| HP:0002162 | Low posterior hairline | Frequent (30-79%) |
| HP:0002230 | Generalized hirsutism | Frequent (30-79%) |
| HP:0003196 | Short nose | Frequent (30-79%) |
| HP:0100807 | Long fingers | Frequent (30-79%) |
| HP:0000160 | Narrow mouth | Occasional (5-29%) |
| HP:0001088 | Brushfield spots | Occasional (5-29%) |
| HP:0001387 | Joint stiffness | Occasional (5-29%) |
| HP:0002269 | Abnormality of neuronal migration | Occasional (5-29%) |
| HP:0005616 | Accelerated skeletal maturation | Occasional (5-29%) |
| HP:0009465 | Ulnar deviation of finger | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | Edinburgh malformation syndrome |
| Mondo ID | MONDO:0007519 |
| MeSH | C563051 |
| OMIM | 129850 |
| Orphanet | 1895 |
| UMLS | C0795933 |
| MedGen | 167084 |
| GARD | 0002074 |
| Is cancer (heuristic) | no |
Also known as: Edinburgh malformation syndrome · typus Edinburgensis
Disease family
Classification path: disease › human disease › disease by developmental or physiological process › disorder of development or morphogenesis › hereditary lethal multiple congenital anomalies/dysmorphic syndrome › Edinburgh malformation syndrome
Related subtypes (9): Thakker-Donnai syndrome, multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, Stromme syndrome, Bartsocas-Papas syndrome 1, endocrine-cerebro-osteodysplasia syndrome, lethal polymalformative syndrome, Boissel type, lethal hydranencephaly-diaphragmatic hernia syndrome, Meckel syndrome, microphthalmia microtia fetal akinesia
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.