microlissencephaly-micromelia syndrome
Findings
No curated finding names microlissencephaly-micromelia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.
Definition from the Mondo Disease Ontology (MONDO:0018860), read 2026-09-29. CC BY 4.0.
Features
25 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.
- 11 pairs of ribsHPOHP:0000878
- Very frequent (80% to 99% of cases)
- Adducted thumbHPOHP:0001181
- Very frequent (80% to 99% of cases)
- AreflexiaHPOHP:0001284
- Very frequent (80% to 99% of cases)
- Bilateral single transverse palmar creasesHPOHP:0007598
- Very frequent (80% to 99% of cases)
- Cerebellar hypoplasiaHPOHP:0001321
- Very frequent (80% to 99% of cases)
- Coarse facial featuresHPOHP:0000280
- Very frequent (80% to 99% of cases)
Show the remaining 13
- Long philtrumHPOHP:0000343
- Very frequent (80% to 99% of cases)
- MicromeliaHPOHP:0002983
- Very frequent (80% to 99% of cases)
- Palpebral edemaHPOHP:0100540
- Very frequent (80% to 99% of cases)
- PolyhydramniosHPOHP:0001561
- Very frequent (80% to 99% of cases)
- Respiratory distressHPOHP:0002098
- Very frequent (80% to 99% of cases)
- Secondary microcephalyHPOHP:0005484
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: microlissencephaly-micromelia syndrome
- Also called
- Basel-Vanagaite-Sirota syndrome