Phocomelia

Phocomelia manifested as aural abnormalities.

Eyesight limitation from phocomelia.

9-year-old Indian boy with phocomelia affecting all 4 limbs, 1928

The symptoms of phocomelia syndrome are undeveloped limbs and absent pelvic bones; however, various abnormalities can occur to the limbs and bones.[4] 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. Sometimes hands or fingers will be present but limp due to having no bones or being loosely attached. 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".[5]

According to National Organization for Rare Disorders (NORD), individuals carrying phocomelia syndrome will generally show symptoms of growth retardation previous to and after birth. The syndrome can also cause severe mental deficiencies in infants. Infants born with phocomelia will normally have a petite head with "sparse hair" that may appear "silvery-blonde". Hemangioma, the abnormal buildup of blood vessels, will possibly develop around the facial area at birth and the eyes may be set widely apart, a condition known as orbital hypertelorism. The pigment of the eyes will be a bluish white.[5] Phocomelia can also cause: an undeveloped nose with slender nostrils, disfigured ears, irregularly petite jaws (a condition known as micrognathia), and a cleft lip with cleft palate.[6] According to NORD, severe symptoms of phocomelia include:

• A fissure of the skull and a projecting brain known as encephalocele
• An accumulation of spinal fluid under the skull also known as hydrocephalus, causing vomiting and migraines
• An abnormally shaped uterus (bicornuate)
• Inability to clot blood efficiently due to a low amount of platelets running through the blood
• Malformations in the kidney and heart
• Shortened neck
• Abnormalities in the urethra

Prosthesis is a synthetic alternative for missing limbs, teeth, and various other body parts. Advances in prosthetic limbs have increased greatly during the twentieth century. The use of new materials such as modern plastics, complex procedures and better pigments have created lighter in weight and more realistic looking artificial limbs. With the advancement of myoelectric prosthetic limbs, patients are able to move their limbs without the use of cords or other devices. The myoelectric limbs can detect electric signals from the nervous system and muscles. They were first used on adults, but now they are being fitted to children.[13]

Patients that receive a loss of limbs due to phocomelia are typically treated with prosthetics. Infants at the age of six months are recommended to have a prosthetic mitten fitted, enabling them to get used to the prosthesis. A hook will be added when the child reaches the age of two years. Eventually the patient may receive a myoelectric prosthetic limb. Patients are treated in this way due to the lack of understanding at a young age and the absence of necessary tissues and bones to hold the prosthetic limb.

• Mat Fraser was born with phocomelia due to his mother taking thalidomide while she was pregnant.[14] He is known as the drummer of rock bands including Fear of Sex, The Reasonable Strollers, Joyride, The Grateful Dub, and Living in Texas. He is also an actor and performing artist.
• Alison Lapper was born with phocomelia. She is arm deficient and has shortened bones and legs. Lapper graduated from Brighton University in 1994, established herself as a visual artist, and in 2000 gave birth to a son, Parys.[15] Lapper produces cards and calendars for The Mouth and Foot Painters' Association. She does not wear prosthetic limbs.[15]
• Ronan Tynan was born with phocomelia.[16] He became a track and field athlete, competing in the 1984 and 1988 Summer Paralympics.[17] Tynan went on to a career as a physician, and later, a singer.
• Ame Barnbrook was born without arms and only the lower half of her left leg, and three toes.[18] She has a rarer form of phocomelia, meaning all of her limbs are affected. She graduated from the University of Wollongong with a Bachelor of Creative Arts. Barnbrook plays the trumpet with her foot and is a competitive sailor.[18] She sails a SKUD18[19] at world championship level. She did not qualify for the 2012 Paralympic Games in London, but she trained for the 2016 Paralympic Games in Rio de Janeiro.
• Thomas Quasthoff, an opera singer.
• Nick Vujicic, evangelist, motivational speaker, author, and director of Life Without Limbs.
• Eli Bowen, who made his living performing in sideshows.[20]
• Hee Ah Lee, a pianist who has two fingers on each hand.
• Rahma Haruna was born in Nigeria with severe phocomelia. She had no limbs, except for a partially formed right hand that was attached to her axilla. Rahma's story came out when a local journalist saw her on the street with her brother, after which the story was shared widely on social media. She died at the age of 19, on 25 December 2016.[21]
• Enos Stutsman, Pioneer settler of North Dakota. Namesake of Stutsman County.