Larsen-like syndrome, B3GAT3 type

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Larsen-like syndrome, B3GAT3 type

Synonyms: Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome

Larsen-like syndrome B3GAT3 type is a rare genetic primary bone dysplasia characterized by laxity dislocations and contractures of the joints short stature foot deformities (e.g. clubfeet) broad tips of fingers and toes short neck dysmorphic facial features (hypertelorism downslanting palpebral fissures upturned nose with anteverted nares high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures osteopenia arachnodactyly and blue sclerae. A broad spectrum of additional features including scoliosis radio-ulnar synostosis mild developmental delay and various eye disorders (glaucoma amblyopia hyperopia astigmatism ptosis) are also reported.

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.