Orphanet: Ring chromosome 4 syndrome

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Ring chromosome 4 syndrome

Disease definition

Autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.

ORPHA:1447

Classification level: Disorder

Synonym(s):
- Ring 4
- Ring chromosome 4
- Syndrome r(4)
- r(4) syndrome
Prevalence: <1 / 1 000 000
Inheritance: -
Age of onset: Infancy, Neonatal
ICD-10: Q93.2
OMIM: -
UMLS: C0265407
MeSH: C537636
GARD: 1339
MedDRA: -

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Ring chromosome 4 syndrome

ORPHA:1447

A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018) Polski ()

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