/macrocephaly-spastic paraplegia-dysmorphism syndrome

macrocephaly-spastic paraplegia-dysmorphism syndrome

Rare Disease

MONDO:0010858

Also Known As

Fryns macrocephalymacrocephaly with spastic paraplegia and distinctive craniofacial appearance

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.