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Macrocephaly-spastic paraplegia-dysmorphism syndrome

Disease 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.

ORPHA:2429

Classification level: Disorder
  • Synonym(s):
    • Fryns macrocephaly
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q87.8
  • OMIM: 600302
  • UMLS: C1838281
  • MeSH: -
  • GARD: -
  • MedDRA: -

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