Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Congenital nervous system disorder · Multiple congenital anomalies/dysmorphic syndrome-intellectual disability · Hereditary spastic paraplegia
Macrocephaly-spastic paraplegia-dysmorphism syndrome
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.
This condition has no sub-types.