Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion


Engelsk navn: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
Engelske synonym: 10p12p11 microdeletion syndrome,Del(10)(p11.21p12.31),Deletion 10p11.21p12.31,Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion,Monosomy 10p11.21p12.31


Definisjon

A rare, genetic syndromic intellectual disability characterized by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behavior (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common.

Fra Orphanet

ORPHA: 284169
Klassifiseringsnivå: Subtype of disorder
ICD-10: Q87.8

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Mer informasjon

Frambu kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.
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