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Familial developmental dysphasia

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Disease definition

Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal.

ORPHA:1799

Classification level: Disorder

Synonym(s):
  • Billard-Toutain-Maheut syndrome
  • FOXP2-associated dysphasia

Prevalence: <1 / 1 000 000

Inheritance: Autosomal dominant

Age of onset: Childhood

ICD-10: F80.1

OMIM: 600117

UMLS: C1838630

MeSH: C563997

GARD: 1823

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