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Dysmorphism-short stature-deafness-difference of sex development syndrome

Disease definition

Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait.

ORPHA:2282

Classification level: Disorder
  • Synonym(s):
    • Dysmorphism-short stature-deafness-disorder of sex development syndrome
    • Dysmorphism-short stature-hearing loss-disorder of sex development syndrome
    • Ieshima-Koeda-Inagaki syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: -
  • UMLS: C4518561
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)

Additional information

Further information on this disease

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