Ring chromosome 1 syndrome

Orpha code: 1437OMIM code:

Definition

Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.

Disease data
Classification

Malformation syndrome

Synonyms
Ring 1
Ring chromosome 1
r(1) syndrome
ORPHA code
1437
OMIM code
-
ICD10 code
Q93.2
ICD11 code
-

No additional description.

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