Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

Get in touch with RARE Concierge.

Contact RARE Concierge

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

Synonyms: MED13L-related intellectual disability syndrome

A rare genetic syndromic intellectual disability characterized by developmental delay mild to severe intellectual disability facial features (bulbous nasal tip and macroglossia macrostomia or open mouth appearance) and a wide spectrum of other nonspecific variable clinical features.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

Newly diagnosed with
Developmental delay-facial dysmorphism syndrome due to MED13L deficiency?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

MED13L Foundation

1. Coordinate and collaborate with the global scientific community to understand the function of the MED13L gene in order to develop effective treatments and a cure for MED13L syndrome. 2. Increase medical community and public awareness of the complexity and potential severity of MED13L syndrome. 3. Provide educational and emotional support for those affected. 4. Fundraise to support these goals.

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

Clinical Trials

For a list of clinical trials in this disease area, please click here.