2q23.1 microduplication syndrome

Orpha code: 313947OMIM code:

Definition

2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.

Disease data
Classification

Malformation syndrome

Synonyms
Dup(2)(q23.1)
Dup(2)(q23.1)
Trisomia 2q23.1
Trisomy 2q23.1
ORPHA code
313947
OMIM code
-
ICD10 code
Q92.3
ICD11 code
-

No additional description.

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