The symptoms of phocomelia syndrome are undeveloped limbs and absent pelvic bones; however, various abnormalities can occur to the limbs and bones. 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 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. Phocomelia can also cause: an undeveloped nose with slender nostrils, disfigured ears, irregularly petite jaws [also known as micrognathia], and a cleft lip with cleft palate. 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

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:

- 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

- disorders to the limbs

The infants that were exposed to thalidomide during development phases had a 40% chance of survival. The McMredie-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.

Dysmelia can refer to

- missing (aplasia) limbs: amelia, oligodactyly, congenital amputation e.g. Tibial or Radial aplasia

- malformation of limbs: shortening (micromelia, rhizomelia or mesomelia), ectrodactyly, phocomelia, meromelia, syndactyly, brachydactyly, club foot

- too many limbs: polymelia, polydactyly, polysyndactyly

- others: Tetraamelia, hemimelia, Symbrachydactyly

Dysmelia (from Gr. δυσ- "dys", "bad" + μέλ|ος "mél|os", "limb" + Eng. suff. -ia) is a congenital disorder of a limb resulting from a disturbance in embryonic development.

Oligodactyly (from the Ancient Greek "oligos" meaning "few" and δάκτυλος "daktylos" meaning "finger") is the presence of fewer than five fingers or toes on a hand or foot.

It is quite often incorrectly called "hypodactyly", but the Greek prefixes and are used for scales (e.g. in hypoglycaemia and hypercholesterolemia). This as opposed to or scales, where and should be used (e.g. in oligarchy and polygamy). Oligodactyly is therefore the opposite of polydactyly. Very rare, this medical condition usually has a genetic or familial cause.

Oligodactyly is sometimes a sign or symptom of several syndromes including Poland syndrome and Weyer Ulnar Ray Syndrome. It is a type of Dysmelia.

Ectrodactyly is an extreme instance of oligodactyly, involving the absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation (SHFM). The hands and feet of people with ectrodactyly are often described as "claw-like" and may include only the thumb and one finger (usually either the little finger, ring finger, or a syndactyly of the two) with similar abnormalities of the feet.

People with oligodactyly often have full use of the remaining digits and adapt well to their condition. They are not greatly hindered in their daily activities, if at all. Even those with the most extreme forms are known to engage in tasks that require fine control, such as writing and bootmaking as well as working as a cab driver.

Vadoma people of Zimbabwe have a high frequency of oligodactyly.

In the above brachydactyly syndromes, short digits are the most prominent of the anomalies, but in many other syndromes (Down syndrome, Rubinstein-Taybi syndrome, etc.), brachydactyly is a minor feature compared to the other anomalies or problems comprising the syndrome.

Brachydactyly (Greek βραχύς = "short" plus δάκτυλος = "finger"), is a medical term which literally means "shortness of the fingers and toes" (digits). The shortness is relative to the length of other long bones and other parts of the body. Brachydactyly is an inherited, usually dominant trait. It most often occurs as an isolated dysmelia, but can also occur with other anomalies as part of many congenital syndromes.

Nomograms for normal values of finger length as a ratio to other body measurements have been published. In clinical genetics the most commonly used index of digit length is the dimensionless ratio of the length of the 3rd (middle) finger to the hand length. Both are expressed in the same units (centimeters, for example) and are measured in an open hand from the fingertip to the principal creases where the finger joins the palm and where the palm joins the wrist.

Several terms are used to describe congenital abnormalities. (Some of these are also used to describe noncongenital conditions, and more than one term may apply in an individual condition.)

A limb anomaly is called a dysmelia. These include all forms of limbs anomalies, such as amelia, ectrodactyly, phocomelia, polymelia, polydactyly, syndactyly, polysyndactyly, oligodactyly, brachydactyly, achondroplasia, congenital aplasia or hypoplasia, amniotic band syndrome, and cleidocranial dysostosis.

Congenital anomalies of the heart include patent ductus arteriosus, atrial septal defect, ventricular septal defect, and tetralogy of fallot.

Congenital anomalies of the nervous system include neural tube defects such as spina bifida, meningocele, meningomyelocele, encephalocele and anencephaly. Other congenital anomalies of the nervous system include the Arnold-Chiari malformation, the Dandy-Walker malformation, hydrocephalus, microencephaly, megalencephaly, lissencephaly, polymicrogyria, holoprosencephaly, and agenesis of the corpus callosum.

Congenital anomalies of the gastrointestinal system include numerous forms of stenosis and atresia, and perforation, such as gastroschisis.

Congenital anomalies of the kidney and urinary tract (CAKUT) include renal parenchyma, kidneys, and urinary collecting system.

Defects can be bilateral or unilateral, and different defects often coexist in an individual child

Polymelia (from Greek πολυ- = "many" plus μέλος (plural μέλεα) = "limb") also known as "hydra syndrome" is a birth defect involving limbs (a type of dysmelia), in which the affected individual has more than the usual number of limbs. In humans and most land-dwelling animals, this means having five or more limbs. The extra limb is most commonly shrunken and/or deformed.

Sometimes an embryo started as conjoined twins, but one twin degenerated completely except for one or more limbs, which end up attached to the other twin.

Sometimes small extra legs between the normal legs are caused by the body axis forking in the dipygus condition.

Many mythological creatures like dragons, winged horses, and griffins have six limbs: four legs and two wings. The dragon's science is discussed in "Dragons: A Fantasy Made Real".

In Greek Mythology, the Hekatonkheires were said to each have one hundred hands. The Gegenees were a race of giants with six arms.

Sleipnir, Odin's horse in Norse mythology, has eight normal horse legs, and is usually depicted with limbs twinned at the shoulder or hip.

Several Hindu deities are depicted with multiple arms and sometimes also multiple legs.