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Marfanoid habitus-autosomal recessive intellectual disability syndrome

Disease definition

A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, psychomotor retardation, flat face and some features resembling Marfan syndrome, such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, and muscle hypotonia. There have been no further descriptions in the literature since 1984.

ORPHA:2463

Classification level: Disorder
  • Synonym(s):
    • Fragoso-Cantú syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: Q87.8
  • OMIM: 248770
  • UMLS: C0268364  C1855347
  • MeSH: -
  • GARD: -
  • MedDRA: -
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