Prenatal-onset spinal muscular atrophy with congenital bone fractures

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Prenatal-onset spinal muscular atrophy with congenital bone fractures

Synonyms: SMABF

A rare genetic motor neuron disease characterized by decreased or absent fetal movements congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita) and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress severe muscular hypotonia areflexia dysphagia congenital heart defects and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure.

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

ZC4H2 Research Foundation

The purpose of the ZC4H2 Research Foundation is to support the development of viable therapies and standards of clinical care for the treatment of ZC4H2 Associated Rare Disorders (ZARD), and to be an information and support network for the ZARD community. We advocate for the ZARD community through: Research, Awareness, and Support.

ZC4H2 Research Foundation

The purpose of the ZC4H2 Research Foundation is to support the development of viable therapies and standards of clinical care for the treatment of ZC4H2 Associated Rare Disorders (ZARD), and to be an information and support network for the ZARD community. We advocate for the ZARD community through: Research, Awareness, and Support.

Association Aux Pas du Coeur

Our organization wants to raise awareness and recognize rare diseases in Côte d'Ivoire. Our mission is to: Raising awareness and campaigning 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 so that doctors are able to make a final diagnosis and ensure the continuous follow-up of patients. Create a patient registry to establish very precise statistics of rare diseases in Côte d'Ivoire. Create a close-knit patient community. Break the isolation and despair of sick people and their families. Open up to the world and actively contribute to international research aimed at treatments.

Clinical Trials

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