Chromosome 1p32-p31 deletion syndrome

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.

Also known as: 1p31p32 microdeletion syndrome, Del(1)(p31p32), chromosome 1p32-p31 deletion syndrome, monosomy 1p31p32, BRMUTD, brain malformations with or without urinary tract defects

6 clinical trials for this condition and its sub-types.