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Distal monosomy 15q

Disease definition

Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.

ORPHA:1596

Classification level: Disorder
  • Synonym(s):
    • 15q26 deletion syndrome
    • Distal 15q deletion syndrome
    • Monosomy 15q26
    • Telomeric 15q deletion syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q93.5
  • OMIM: 612626
  • UMLS: C2675463
  • MeSH: -
  • GARD: -
  • MedDRA: -
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