Orphanet: Severe intellectual disability poor language strabismus grimacing face long fingers syndrome

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Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

Disease definition

Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.

ORPHA:363686

Classification level: Disorder

Synonym(s): -
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: Infancy, Neonatal
ICD-10: Q87.8
OMIM: 615074
UMLS: -
MeSH: -
GARD: 12815
MedDRA: -

Detailed information

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Article for general public
English (2016, pdf) - Unique
Nederlands (2016, pdf) - Unique
Russian (2016, pdf) - Unique

: produced/endorsed by ERN(s)
FSMR

: produced/endorsed by FSMR(s)

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Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

ORPHA:363686

A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018)

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