Editing Phocomelia (section)

==Signs and symptoms==
[[File:Ears of phocomelia patients.jpg|thumb|Phocomelia manifested as auricular abnormalities]]
[[Image:phocomelia1.jpg|thumb|Eyesight limitation from phocomelia]]
[[File:Phocomelia.jpg|thumb|9-year-old [[Indian people|Indian]] boy with phocomelia affecting both arms and legs, 1928]]
The symptoms of phocomelia syndrome are undeveloped limbs and absent pelvic bones; however, various abnormalities can occur to the limbs and bones.<ref>{{cite journal |last1=Olney |first1=Richard S. |last2=Hoyme |first2=H. Eugene |last3=Roche |first3=Frances |last4=Ferguson |first4=Kevin |last5=Hintz |first5=Susan |last6=Madan |first6=Ashima |title=Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): Distinctive features and prenatal detection |journal=American Journal of Medical Genetics |volume=103 |issue=4 |pages=295–301 |year=2001 |pmid=11746009 |doi=10.1002/ajmg.1560 }}</ref> 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".<ref name="nard" />

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.<ref name="nard" /> Phocomelia can also cause: an undeveloped nose with slender nostrils, disfigured ears, irregularly petite jaws (a condition known as [[Micrognathism|micrognathia]]), and a cleft lip with cleft palate.<ref>{{cite book | title = Gale Encyclopedia of Genetic Disorders, Part I | chapter = Roberts SC phocomelia | last = Hunt | first = Katherine Susan | year = 2002 | publisher = The Gale Group | location = Detroit}}</ref> According to NORD, severe symptoms of phocomelia include:{{citation needed|date=October 2020}}
* 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 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

===Thalidomide syndrome symptoms===
When an individual is born with phocomelia due to drugs or pharmaceuticals, it is known as [[thalidomide]] syndrome. The symptoms of thalidomide syndrome are defined by absent or shortened limbs, causing flipper hands and feet. According to Anthony J Perri III and Sylvia Hsu they can additionally receive:<ref name="perri" />
* Palsy disorder of the face
* Ear and eye abnormalities, resulting in limited/complete loss of hearing or sight
* Gastrointestinal and genitourinary tract disorders
* Ingrown genitalia
* Undeveloped/missing lungs
* Distorted digestive tract, heart, kidney
* Hypoplastic or absent bones

The infants that were exposed to thalidomide during development phases had a 40% chance of survival.<ref name="miller" /> The McCredie–McBride hypothesis explains that the limbs of the infants become malformed as a result of the thalidomide harming the neural tissue—simply because the neural tissue has such a large impact on formation and development of the limbs.<ref name="perri">{{cite journal |last1=Perri |first1=Anthony J. |last2=Hsu |first2=Sylvia |title=A review of thalidomide's history and current dermatological applications |journal=Dermatology Online Journal |volume=9 |issue=3 |pages=5 |year=2003 |doi=10.5070/D35FK5W0QV |pmid=12952752 |url=http://dermatology.cdlib.org/93/reviews/thalidomide/hsu.html }}</ref>