Genetic neurodegenerative disease Rare genetic developmental defect during embryogenesis Rare genetic intellectual disability with developmental anomaly Macrocephaly - spastic paraplegia - dysmorphism ICD10:Q87.8 Fryns macrocephaly OMIM:600302 orphanet Macrocephaly - spastic paraplegia - dysmorphism is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, coarse 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.