Larsen-like syndrome, B3GAT3 type

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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 May 2024

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Advocacy Organizations

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.

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.

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

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Clinical Trials

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