6q terminal deletion syndrome

Orpha code: 75857OMIM code:

Definition

A rare partial deletion of the long arm of chromosome 6 characterized by a variable clinical phenotype that includes a characteristic craniofacial dysmorphism (including microcephaly, broad nose with prominent nasal root and bulbous nasal tip, large ears that may be malformed and low-set, characteristic downturned mouth, and short neck), global development delay, intellectual disability, and variable, non-specific, congenital malformations. Muscular hypotonia, seizures, retinal anomalies, and variable brain abnormalities have been reported in association.

Disease data
Classification

Malformation syndrome

ORPHA code
75857
OMIM code
-
ICD10 code
Q93.5
ICD11 code
-

No additional description.

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