Kallmann syndrome type 6

Kallmann syndrome type 6

An inherited condition (OMIM:612702) characterised by:
• Hypogonadotropic hypogonadism—due to deficiency in gonadotropin-releasing hormone secondary to a failure of embryonic migration of gonadotropin-releasing hormone-synthesising neurons; and
• Anosmia or hyposmia due to an absence or hypoplasia of the olfactory bulbs and tracts.

Other developmental anomalies seen include renal agenesis, cleft lip and/or palate, selective tooth agenesis, and bimanual synkinesis.

Molecular pathology
Cause by defects in FGF8 on chromosome 10q24, which encodes fibroblast growth factor 8.
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