1p31p32 microdeletion syndrome
Engelsk navn: 1p31p32 microdeletion syndrome
Engelske synonym: Del(1)(p31p32),Monosomy 1p31p32
Definisjon
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.
Fra Orphanet
ORPHA: 401986
Klassifiseringsnivå: Disorder
ICD-10: Q93.5
