Tetrasomy 18p

Definition

Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.

Also known as Isochromosome 18p, tetrasomy 18p, tetrasomy type 18P — per MONDO

Also identified as

• ICD9 758.89 per MONDO
• MESH C538306 per MONDO
• OMIM 614290 per MONDO
• Orphanet 3307 per MONDO
• SCTID 698849002 per MONDO
• UMLS C0795868 per MONDO