HADDS (Hypotonia, Ataxia, and Delayed Development Syndrome)

[OrphanetSwitzerland]

Hello,

Please consider the inclusion in the nomenclature of the entity Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS).

The request comes from a coder:

“We have a patient with the diagnosis text «HADDS (rare disease mit Mutation im Gen EBF3 auf dem Chromosom 10q26.3)». The patient was not diagnosed here, and was here just for orthopedic treatment, so there is no further information except the diagnosis text”.

There is a Foundation in the US focused on this syndrome: https://www.hadds.org/

The syndrome is linked to the gene EBF3 (GenID 25725).

References:

• PMID: 35340043 - An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain.

“We conducted a phenotypic and genotypic analysis of 41 individuals with EBF3-related NDD and correlated the findings with a meta-analysis of 47 individuals” “In our cohort, we identified Mendelian inheritance in 5 affected individuals from 4 unrelated families and mosaicism in the unaffected parents of 2 affected and unrelated individuals”.

• PMID: 28017370 - De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome
• PMID: 28017372 - A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
• OMIM: #617330

Thank you

[MCecile-US14]

Dear @Orphanet-AysegulSenol,

Could you please revise this request of creation when you time? Looking briefly, it seems it could falls under 'Non-specific syndromic Intellectual Disability', ORPHA:528084.

Thank you, Marie-Cécile

@MartinArles @OrphanetSwitzerland thank you very much for the detailed documentation and info provided! :)

[Orphanet-AysegulSenol]

Dear @OrphanetSwitzerland,

I would like to inform you that the entity having the main name " Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome" (ORPHA: 658843) is now created. The gene EBF3 will be linked to this entity.

Thank you for bringing up this issue and sharing all the material.

Best regards,

Aysegul