Ring chromosome 4 syndrome
Synonyms: Ring 4 | Ring chromosome 4 | Syndrome r(4) | r(4) syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
Newly diagnosed with
Ring chromosome 4 syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Rare Chromosome Disorder Support Group – Unique
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.