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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: C563963
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2014) Español (2014) Italiano (2014) Nederlands (2014) Français (2005) Polski (2014, pdf)

Detailed information

General public

Disability

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.