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 April 2024
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Larsen-like syndrome, B3GAT3 type?
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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.
CDG Canada
CDG Canada supports patients and families affected by Congenital Disorders of Glycosylation (CDG).
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.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
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.
Moonshots for Unicorns
Curing single-gene disorders
Myhre Syndrome Foundation
Myhre Syndrome Foundation is a patient advocacy organization dedicated to providing hope and improving the lives of those impacted by Myhre syndrome.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Clinical Trials
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