Hypotonia-speech impairment-severe cognitive delay syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: IHPRF syndrome | Infantile hypotonia-psychomotor retardation-characteristic facies syndrome

Hypotonia-speech impairment-severe cognitive delay syndrome is a rare genetic neurodegenerative disorder characterized by severe persistent hypotonia (presenting at birth or in early infancy) severe global developmental delay (with poor or absent speech difficulty or inability to roll sit or walk) profound intellectual disability and failure to thrive. Additional manifestations include microcephaly progressive peripheral spasticity bilateral strabismus and nystagmus constipation and variable dysmorphic facial features (including plagiocephaly broad forehead small nose low-set ears micrognathia and open mouth with tented upper lip).

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://www.orphadata.org. Data version July 2024

Newly diagnosed with
Hypotonia-speech impairment-severe cognitive delay syndrome?

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

Association Aux Pas du Coeur – Côte d’ivoire

Our organization wants to raise awareness and recognition of rare diseases in Ivory Coast. Our mission is to: Raise awareness and campaign to help with the diagnosis and free therapeutic care of patients. Request and/or contribute to actions relating to the training of the medical profession to be able to make a final diagnosis and ensure continuous monitoring of patients easily.

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.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

Don't see your organization here. Let us know here.

Clinical Trials

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