1p36 deletion syndrome

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1p36 deletion syndrome

Synonyms: Del(1)(p36) | Deletion 1p36 | Deletion 1pter | Monosomy 1p36 | Monosomy 1pter | Subtelomeric 1p36 deletion

A rare chromosomal anomaly characterized by distinctive facial dysmorphic features hypotonia developmental delay intellectual disability seizures heart defects poor/absent speech and prenatal onset growth deficiency.

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 September 2023.

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1p36 deletion syndrome?

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Advocacy Organizations

My Faulty Gene

My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.

Clinical Trials

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