Phocomelia is an extremely rare congenital disorder involving malformation of the limbs (dysmelia). Étienne Geoffroy Saint-Hilaire coined the term in 1836. [3] The symptoms of phocomelia syndrome are undeveloped limbs and absent pelvic bones; however, various abnormalities can occur to the limbs and bones. [4] .

Feb 10, 2022 · Phocomelia is an extremely rare birth defect. It’s characterized by one or more shortened limbs. In more serious cases, the limbs might be completely absent.

May 20, 2023 · Phocomelia is a rare condition that affects babies at birth. This condition causes the upper or lower limbs of the child to be underdeveloped or missing. Phocomelia can affect one or multiple...

Jun 12, 2023 · Phocomelia is a rare congenital anomaly where the proximal aspect of an extremity is absent with the hand or foot attached directly to the trunk. This disorder was brought into prominence as a characteristic side effect of the …

Phocomelia is a condition where limbs are underdeveloped or absent. It varies in severity. Symptoms include: Shortened limbs: One or more limbs may be considerably shorter than normal. Absence of limbs: In extreme cases, all limbs may be absent.

Aug 21, 2024 · Phocomelia is an extremely rare congenital skeletal disorder that characteristically affects the limbs. It can affect either the upper limbs or lower limbs or both. Phocomelia is also a descriptive term to describe the characteristic limb anomalies occurring with …

Phocomelia Syndrome is a birth defect in which the limbs are extremely shortened so that the feet and hands arise close to the trunk. Phocomelia can also be responsible for the absence of pelvic and thigh bones.

Phocomelia is a rare congenital anomaly in which the proximal part of the limb (humerus or femur, radius or tibia, ulna or fibula) is absent or markedly hypoplastic, with normal or nearly normal hand or foot.

Schinzel type phocomelia is a very rare genetic syndrome characterized by skeletal abnormalities. It is a type of skeletal dysplasia. Symptoms of Schinzel type phocomelia are present from birth and may include having no fibula (lower bone of the leg) or ulna (bone of the arm), having an underdeveloped (hypoplastic) pelvis, and having ...

Apr 29, 2017 · Phocomelia is defined as ‘seal limb’- a birth anomaly (i.e., congenital malformation) in which the hands are essentially attached to the chest. There may be a short bone connecting the hands to the chest, either a forearm bone or arm bone, but not both.