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Complex syndromes with lipodystrophy #236

Open Orphanet-ES opened 3 months ago

Orphanet-ES commented 3 months ago

Dear Marta,

Following the request from the Spanish headquarters of AELIP (Internationa Association of Families and People Affected by Lipodystrophy) to link all lipodystrophies to their association, we have realized that not all of them are included in the Orphanet group ORPHA:90970 Primary lipodystrophy.

After reviewing the classification suggested by the association, included in the attached guide (in Spanish), I have identified the complex syndromes with lipodystrophy (page 19) not included in that group, so I propose including them or creating a new group for complex syndromes:

Atypical Werner syndrome ORPHA:79474 Bloom syndrome ORPHA:125 Cockayne syndrome ORPHA:191 Hutchinson-Gilford progeria syndrome ORPHA:740 Progeroid and marfanoid aspect-lipodystrophy syndrome ORPHA:300382 Progeroid features-hepatocellular carcinoma predisposition syndrome ORPHA:435953 Progeroid syndrome, Petty type ORPHA:2963 Werner syndrome ORPHA:902 Wiedemann-Rautenstrauch syndrome ORPHA:3455

I have also identified two disorders that belong to the group ORPHA:98305 Genetic lipodystrophy, that are included in the Pat classification, but not in the functional one (Ass,Cns,Dgs,Rch): SHORT syndrome ORPHA:3163 Severe neurodegenerative syndrome with lipodystrophy ORPHA:363400

Could you correct it?... or explain it?

Kind regards,

María Elena

Orphanet-MartaFructuoso commented 3 months ago

Dear María Elena,

Thank you for your message and the information provided. We will evaluate the completion of this group, we have already informed AELIP of our plans. Your suggestion will be studied in parallel and discussed in our scientific and medical meeting after the summer break. I will keep you updated!

Kind regards, Marta

Orphanet-ES commented 3 months ago

Dear Marta,

Thank you for considering my proposal.

In addition to the diseases listed previously, there are others that were already within the group of primary lipodystrophies and that are also considered complex diseases, so you will also have to take them into account if you decide to restructure the information.

Kind regards,

María Elena