Kallman Syndrome (also known as Olfactogenital dysplasia/syndrome or anosmic idiopathic hypogonadotropic hypogonadism)
Let's get down with the mnemonics!
'Kallman' kinda rhymes with 'Tallman', right? Well, "man" for it's more common in boys and Tall these individuals are of normal or even increased height (Tall).
The other features are:
K - kinda looks like an X so it's X-linked
K also sounds like C for Colorblindness
A - anosmia
L - lip (cleft lip and cleft palate)
N - nerve deafness
A - ataxia (cerebellar ataxia)
M - midline defects (cleft palate, cleft lip)
Other important points are:
- The defect is in the KAL gene which codes for the protein anosmin.
- It can be due to autosomal dominant or recessive inheritance.
That's all!
Stay awesome
This post is written by Nikhil as part of the MSGAI.
Hey nice mnemonic but kallman and de morsier syndrome are not same.
ReplyDeleteTrue, updated the post.
DeleteNot understand sir
DeleteYour website is awesome!
ReplyDeleteBtw i'm with DF on this.
Kallmann isnt X-linked?!??
Thank you, updated the post.
DeleteKallmann syndrome (KS) is characterized by hypogonaotropic hypogonadism and anosmia; it can occur sporadically or be inherited as X-linked, autosomal dominant or autosomal recessive forms. Source: https://www.nature.com/articles/ejhg2008206
Dodé, C., Hardelin, JP. Kallmann syndrome. Eur J Hum Genet 17, 139–146 (2009). https://doi.org/10.1038/ejhg.2008.206