Ring chromosome 18 syndrome

Orpha code: 1442OMIM code:

Definition

Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.

Disease data
Classification

Malformation syndrome

Synonyms
Ring 18
Ring chromosome 18
ORPHA code
1442
OMIM code
-
ICD10 code
Q93.2
ICD11 code
-

No additional description.

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