Year: 2025
Type: article
Abstract: Phocomelia is a congenital condition that involves malformations of human arms and legs which result in a flipper -like appendage.Usually the upper limbs are not fully formed and sections of the "hands and arms may be missing".Short arm bones, fused fingers, and missing thumbs will often occur.Legs and feet are also affected similarly to the arms and hands.Individuals with phocomelia will often lack thigh bones, and the hands or feet may be abnormally small or appear as stumps due to their close "attachment to the body".According to the National Organization for Rare Disorders (NORD), when phocomelia is transmitted (in its familial genetic form) it is seen as an autosomal recessive trait and the mutation is linked to chromosome 8.
Authors: Hemlata Singh, Rajesh Singh
Institution: Mathura Das Mathur Hospital
Language: English
Subfield: Developmental Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4410747396