Orphanet: Marfanoid habitus autosomal recessive intellectual disability syndrome

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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
ICD-11: LD2F.1Y
OMIM: 248770
UMLS: C4518565
MeSH: -
GARD: -
MedDRA: -

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Marfanoid habitus-autosomal recessive intellectual disability syndrome

ORPHA:2463

A summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012)

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