Lowry-MacLean syndrome
MONDO:0010851Mondo
Findings
No curated finding names Lowry-MacLean syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.
Definition from the Mondo Disease Ontology (MONDO:0010851), read 2026-09-29. CC BY 4.0.
Features
52 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.
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Frequent (30% to 79% of cases)
- Abnormality of the abdominal organsHPOHP:0002012
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the corpus callosumHPOHP:0007370
- Frequent (30% to 79% of cases)
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- Congenital diaphragmatic herniaHPOHP:0000776
- Frequent (30% to 79% of cases)
- Convex nasal ridgeHPOHP:0000444
- Frequent (30% to 79% of cases)
- CraniosynostosisHPOHP:0001363
- Frequent (30% to 79% of cases)
- Delayed eruption of primary teethHPOHP:0000680
- Frequent (30% to 79% of cases)
- Developmental glaucomaHPOHP:0001087
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)
Show the remaining 40
- Low-set earsHPOHP:0000369
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
- ProptosisHPOHP:0000520
- Frequent (30% to 79% of cases)
- Severe global developmental delayHPOHP:0011344
- Frequent (30% to 79% of cases)
- Abnormality of the genital systemHPOHP:0000078
- Occasional (5% to 29% of cases)
- Abnormality of the supraorbital ridgesHPOHP:0100538
- Occasional (5% to 29% of cases)