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

Orpha code: 284169OMIM code: 616708

Definition

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

Disease data
Classification

Clinical subtype

Synonyms
10p12p11 microdeletion syndrome
Del(10)(p11.21p12.31)
Delecja 10p11.21p12.31
Monosomia 10p11.21p12.31
Zespół mikrodelecji 10p12p11
Del(10)(p11.21p12.31)
Deletion 10p11.21p12.31
Monosomy 10p11.21p12.31
ORPHA code
284169
OMIM code
616708
ICD10 code
Q93.5
ICD11 code
-

No additional description.

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