Ring chromosome 7 syndrome

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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. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Ring chromosome 7 syndrome?

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