Ring chromosome 7 syndrome
Synonyms: Ring 7 | Ring chromosome 7
Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by growth failure short stature intellectual disability dermatological abnormalities (nevus flammeus dark pigmented nevi café-au-lait spots) microcephaly and facial dysmorphism (incl. facial asymmetry small ears abnormal palpebral fissures ptosis epicanthic folds hyper/hypotelorism). Additional reported features include convulsions cleft lip and palate clinodactyly kyphoscoliosis and genital anomalies (i.e. cryptorchidism hypospadias micropenis).
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 September 2023.
Newly diagnosed with
Ring chromosome 7 syndrome?
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Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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