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 April 2026
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1p31p32 microdeletion syndrome?
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Advocacy Organizations
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
Rare Chromosome Disorder Support Group – Unique
Through sharing knowledge and lived experience, Unique helps families and professionals navigate the world of chromosome and gene disorders
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Clinical Trials
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