lethal faciocardiomelic dysplasia
MONDO:0009204Mondo
Findings
No curated finding names lethal faciocardiomelic dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome.
Definition from the Mondo Disease Ontology (MONDO:0009204), read 2026-09-29. CC BY 4.0.
Features
15 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.
- Bilateral single transverse palmar creasesHPOHP:0007598
- Very frequent (80% to 99% of cases)
- Fibular hypoplasiaHPOHP:0003038
- Very frequent (80% to 99% of cases)
- Hypoplasia of the radiusHPOHP:0002984
- Very frequent (80% to 99% of cases)
- Hypoplasia of the ulnaHPOHP:0003022
- Very frequent (80% to 99% of cases)
- Hypoplastic left ventricleHPOHP:0004383
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- MicroglossiaHPOHP:0000171
- Very frequent (80% to 99% of cases)
- MicroretrognathiaHPOHP:0000308
- Very frequent (80% to 99% of cases)
- Narrow mouthHPOHP:0000160
- Very frequent (80% to 99% of cases)
- Radial ray deficiencyHPOHP:0006433
- Very frequent (80% to 99% of cases)
- Sandal gapHPOHP:0001852
- Very frequent (80% to 99% of cases)
- Short 5th fingerHPOHP:0009237
- Very frequent (80% to 99% of cases)
Show the remaining 3
- Short thumbHPOHP:0009778
- Very frequent (80% to 99% of cases)
- Short tibiaHPOHP:0005736
- Very frequent (80% to 99% of cases)
- Patent ductus arteriosusHPOHP:0001643
- Frequent (30% to 79% of cases)