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Distal duplication 17q

Disease definition

Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.

ORPHA:3379

Classification level: Disorder
  • Synonym(s):
    • Distal trisomy 17q
    • Telomeric duplication 17q
    • Trisomy 17qter
  • Prevalence: -
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q92.3
  • OMIM: -
  • UMLS: C4707663
  • MeSH: C536579
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2018) Español (2018) Italiano (2018) Nederlands (2018)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.