macrocephaly-spastic paraplegia-dysmorphism syndrome
Findings
No curated finding names macrocephaly-spastic paraplegia-dysmorphism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.
Definition from the Mondo Disease Ontology (MONDO:0010858), read 2026-09-29. CC BY 4.0.
Features
24 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.
- Broad foreheadHPOHP:0000337
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- MacrocephalyHPOHP:0000256
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- SpasticityHPOHP:0001257
- Very frequent (80% to 99% of cases)
- Coarse facial featuresHPOHP:0000280
- Frequent (30% to 79% of cases)
- Deeply set eye
Show the remaining 12
- Short philtrumHPOHP:0000322
- Frequent (30% to 79% of cases)
- Thin upper lip vermilionHPOHP:0000219
- Frequent (30% to 79% of cases)
- Truncal obesityHPOHP:0001956
- Frequent (30% to 79% of cases)
- Wide mouthHPOHP:0000154
- Frequent (30% to 79% of cases)
- KyphosisHPOHP:0002808
- Occasional (5% to 29% of cases)
- Low posterior hairlineHPOHP:0002162
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: macrocephaly-spastic paraplegia-dysmorphism syndrome
- Also called
- Fryns macrocephaly