In simple words: This code represents a group of genetic disorders primarily affecting the development of limbs.Examples include Holt-Oram syndrome (affecting bones in the arms and hands), Klippel-Trenaunay-Weber syndrome (involving abnormal growth of blood vessels, soft tissues, and bones), and Nail-patella syndrome (affecting nails, kneecaps, and elbows).

Congenital malformation syndromes predominantly involving limbs. Includes: Holt-Oram syndrome, Klippel-Trenaunay-Weber syndrome, Nail patella syndrome, Rubinstein-Taybi syndrome, Sirenomelia syndrome, Thrombocytopenia with absent radius [TAR] syndrome, VATER syndrome.

Example 1: A newborn is diagnosed with Holt-Oram syndrome, presenting with abnormalities in both upper limbs and a heart defect. Code Q87.2 is used to document the congenital malformation syndrome., A child presents with port-wine stains (red birthmarks), overgrowth of one leg, and varicose veins, consistent with Klippel-Trenaunay-Weber syndrome.Q87.2 is used to code this diagnosis., An individual is diagnosed with Nail-patella syndrome, exhibiting absent or underdeveloped nails, small or absent kneecaps, and abnormalities of the elbows.Q87.2 is used to report this condition.

Documentation should specify the syndrome diagnosed and describe the specific limb malformations present. Additional codes should be used to identify any associated manifestations or complications, such as heart defects or other organ involvement.

** This code is not for use on maternal records. Excludes2: inborn errors of metabolism (E70-E88)