/3p- syndrome

3p- syndrome

Rare Disease

MONDO:0013424

Also Known As

3p- syndromeChromosome 3, Monosomy 3pchromosome 3pter-p25 deletion syndromedistal 3p deletiondistal monosomy 3pdistal monosomy type 3pmonosomy 3ptertelomeric monosomy 3p3p deletion3p monosomyDel(3p) syndromechromosome 3, monosomy 3p25chromosome 3p deletionchromosome 3p- syndromedel(3p25)deletion 3pdeletion 3p25monosomy 3ppartial monosomy 3p

Definition

Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.