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Keyword - Kallmann syndrome (KW-0956)

Definition

Protein which, if defective, causes Kallmann syndrome, a disorder characterized by the association of hypogonadotropic hypogonadism with anosmia or hyposmia. Kallmann syndrome is caused by impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty, and a partial or total loss of the sense of smell (anosmia). In some patients other developmental anomalies can be present such as renal agenesis, cleft lip/palate, selective tooth agenesis and bimanual synkinesis.

Synonyms

  • Dysplasia olfactogenitalis of De Morsier
  • HHA
  • Hypogonadotropic hypogonadism and anosmia
  • Kallmann's syndrome
  • Kallmann de Morsier syndrome
  • KMS

Category

Disease

Graphical

DiseaseKallmann syndrome