1p31p32 microdeletion syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

1p31p32 microdeletion syndrome

Synonyms: Del(1)(p31p32) | Monosomy 1p31p32

1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 1 characterized by developmental delay corpus callosum agenesis/hypoplasia and craniofacial dysmorphism such as macrocephaly (caused by hydrocephalus or ventriculomegaly) low-set ears anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia tethered spinal cord Chiari type I malformation and seizures.

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.

Newly diagnosed with
1p31p32 microdeletion syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Clinical Trials

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