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Ring chromosome 7 syndrome

Disease definition

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).

ORPHA:1449

  • Synonym(s):
    • Ring 7
    • Ring chromosome 7
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q93.2
  • OMIM: -
  • UMLS: C0795818  C2931622
  • MeSH: C537813
  • GARD: 1345
  • MedDRA: -

Additional information

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