In simple words: Phocomelia is a birth defect where a baby's arms or legs are severely shortened or missing, with their hands or feet attached close to the body. This code is used when the doctor doesn't specify which limb is affected.

Phocomelia of an unspecified limb (or limbs) is a congenital malformation characterized by the absence of one or more of the proximal limb segments (such as the upper arm or thigh), resulting in the hands or feet being attached directly to the trunk or a severely shortened limb.This condition may affect one or multiple limbs and can vary in severity. The specific absent segments are not specified in this code.

Example 1: A newborn is examined and found to have severely shortened arms, with hands attached close to the torso.The legs are normal. The physician documents "phocomelia upper limbs.", An infant presents with both lower limbs significantly underdeveloped, with the feet appearing directly attached to the trunk. Radiographic imaging confirms the absence of the thigh and leg bones. The physician codes this as Q73.1, not specifying whether one or both limbs are involved., A fetus is diagnosed prenatally with an extremely rare form of tetraphocomelia, affecting all four limbs. In the absence of limb specification, Q73.1 would be applied.

Thorough documentation should include clinical examination findings, radiographic evidence of skeletal abnormalities, family history of limb malformations, and any associated anomalies. If genetic testing is performed, those results should also be documented.

** Phocomelia may be associated with other congenital anomalies, requiring a comprehensive diagnostic evaluation. It’s often part of a syndrome, such as Roberts syndrome or thalidomide embryopathy.The specific cause may be genetic or environmental (e.g., exposure to certain drugs during pregnancy). Genetic counseling is strongly recommended.