Deformities

What are deformities?

Deformities, also known as malformations and dimorphism, are parts of a patient’s body that have developed noticeably different from normal. Deformities are largely symptoms and conditions, ranging from mild to severe and can occur anywhere on the body.

What types of deformities are there?

There are many types of deformities, but they can generally be grouped into two broad categories:

  • Congenital: the patient is born with the deformity, e.g., genetic conditions, damage during pregnancy.
  • Acquired: the deformity occurs after birth, e.g., due to injury, bone disease.

Some known types of deformity are:

  • Cleft lip/palate: the patient is born with a cleft in the upper lip, palate of the mouth or both.
  • Carpal fusion: one or more carpal bones fuse at the wrist. Rarely causes problems or requires treatment.
  • Central longitudinal deficiency (cleft hand): birth without one or more of the middle digits, the hand forms a V. If the middle three digits are missing, it has sometimes been cruelly called “lobster claw”.
  • Webbed fingers
  • Scoliosis: a deformity in the curvature of the spine that causes it to curve laterally.
  • Spina bifida
  • Curved back
  • Birthmarks: may be caused by vascular malformations.
  • Torticollis (crooked necks): The patient’s head is tilted at an angle and may have difficulty moving the neck. This is usually congenital.
  • Hip dysplasia: the thigh bone fits loosely into the hip socket, making it prone to dislocation. In adults, this can lead to a limp.
  • Sirenomelia (mermaid syndrome): well known, but incredibly rare, the individual is born with fused legs and usually with abnormal development of the kidney and bladder. Some organs and genitalia may also be malformed or absent. Individuals with sirenomelia rarely live long.
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Deformities are parts of a patient’s body that have developed markedly different from normal.

Symptoms of deformities

While many deformities have obvious physical symptoms, others may affect bones or organs within the body and may not be immediately obvious unless they begin to cause symptoms such as pain, discomfort or swelling, or lead to other conditions.

What can cause deformities?

Deformities can be caused by:

  • Genetic mutations
  • Problems that occur in the uterus
  • Complications during childbirth
  • Severe injuries and consequent reconstructive surgery
  • Fractured bones that are not set properly and heal poorly
  • Growth disorders
  • Hormonal disorders
  • Rheumatoid disorders, such as arthritis
  • Chronic muscle weakness (paresis), paralysis, or lack of muscle balance, e.g., caused by cerebral palsy