Ring chromosome 11 syndrome

Orpha code: 96175OMIM code:

Definition

Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.

Disease data
Classification

Malformation syndrome

Synonyms
RC11
Ring 11
Ring chromosome 11
r(11) syndrome
RC11
Ring 11
Ring chromosome 11
r(11) syndrome
ORPHA code
96175
OMIM code
-
ICD10 code
Q93.2
ICD11 code
-

No additional description.

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