Temtamy preaxial brachydactyly syndrome

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Temtamy preaxial brachydactyly syndrome

Temtamy preaxial brachydactyly syndrome is a rare genetic dysostosis syndrome characterized by bilateral symmetrical preaxial brachydactyly associated with hyperphalangy motor developmental delay and intellectual disability growth retardation sensorineural hearing loss dental abnormalities (incuding misalignment of teeth talon cusps microdontia) and facial dysmorphism that includes plagiocephaly round face hypertelorism malar hypoplasia malformed ears microstomia and micro/retrognathia.

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 October 2023.

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Advocacy Organizations

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.

CDG CARE

Our mission is to promote greater awareness and understanding of CDG & NGLY1-Deficiency, to provide information and support to families affected by CDG & NGLY1, and to advocate for and fund scientific research to advance the diagnosis and treatment of CDG & NGLY1-Deficiency.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

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