Edinburgh malformation syndrome
Findings
No curated finding names Edinburgh malformation syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0007519), read 2026-09-29. CC BY 4.0.
Features
28 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of the voiceHPOHP:0001608
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia affecting the eyeHPOHP:0008056
- Very frequent (80% to 99% of cases)
- Choanal atresiaHPOHP:0000453
- Very frequent (80% to 99% of cases)
- Downturned corners of mouthHPOHP:0002714
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- Frontal bossingHPOHP:0002007
- Very frequent (80% to 99% of cases)
Show the remaining 16
- HydrocephalusHPOHP:0000238
- Frequent (30% to 79% of cases)
- HypertoniaHPOHP:0001276
- Frequent (30% to 79% of cases)
- Long fingersHPOHP:0100807
- Frequent (30% to 79% of cases)
- Low posterior hairlineHPOHP:0002162
- Frequent (30% to 79% of cases)
- Low-set earsHPOHP:0000369
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: Edinburgh malformation syndrome
- Also called
- typus Edinburgensis