Kallmann syndrome with neurological involvement

Also known as: Kallmann syndrome

Hypogonadotropic hypogonadism with anosmia.

Medical specialty: Neurology
Subspecialty: Endocrinology / Neurology overlap
Sex & age distribution: Male: affected, more common; Female: affected; Children: yes, absent puberty noted in adolescents
Gene(s) involved: ANOS1, CCDC141, CHD7, FGF17, FGF8, FGFR1, FLRT3, HS6ST1, IL17RD, PROK2, PROKR2, SEMA3A, SEMA3E, SOX10, WDR11

Etiology & mechanism

Failed GnRH neuron migration.

Gene(s) involved (15)

ANOS1CCDC141CHD7FGF17FGF8FGFR1FLRT3HS6ST1IL17RDPROK2PROKR2SEMA3ASEMA3ESOX10WDR11

Symptoms & signs (6)

anosmiacleft palatedeafnessdelayed pubertyhypogonadismmirror movements (x-linked)

Note

Primarily endocrine; verify

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.