ABSENCE DEFECT OF LIMBS, SCALP AND SKULL - Watsons Health
ABSENCE DEFECT OF LIMBS, SCALP AND SKULL - WatsonsHealth

ABSENCE DEFECT OF LIMBS, SCALP AND SKULL

Adam Oliver Syndrome (AOS) is an uncommon disorder and its disorder manifestation is variable in each person. This condition is present at birth and causes scalp, skull and limb abnormalities.

This genetic disorder, according to National Organization for Rare Disorders (NORD), has been running in numerous members of the same families for more than one generation.

Depending on its severity, treatment of this condition is supportive of surgical management of the defects; it needs a specialized medical team.

Physical abnormalities associated with this syndrome vary highly among affected individuals; it may be very mild or severe.

  • The most common findings are limb and scalp defects.
  • In infants, hairless scraped areas on the scalp’s skin may show. Lesions’ depth and size differ from cases; some lesions may become infected or ulcerated.
  • Lack of bone in certain areas of the skull may be present in those with severe cases.
  • In very severe cases, increased vulnerability to excessive bleeding (hemorrhage) and/or bacterial infections like meningitis can result because certain tissues beneath the skull may become exposed.

DIAGNOSIS

Diagnosis of this syndrome may be seen at birth by the individual’s scalp and skull defects together with fingers, toes, hands, and feet deformities. The doctor may require patient’s history, a systematic clinical evaluation, and a variation of specialized tests like advanced imaging techniques.

In several cases, through the use of advanced imaging techniques like the ultrasound, it may be possible to identify defects of the skull and/or limbs before birth (prenatally).  Reflected sound waves are used to create an image of the developing fetus, during fetal ultrasonography

 

TREATMENT

The treatment of Adams Oliver Syndrome is directed toward the particular symptoms that are seen in each individual. Treatment may have the need for the coordinated efforts of a team of specialists. Pediatricians, plastic surgeons and orthopedic specialists, physical therapists, cardiologists, and other healthcare professionals may need to systematically, and broadly plan an affected child’s treatment.

In several cases, scalp defects may heal without treatment within the first few months of life. Skin grafting, cranial surgery, and/or various surgical techniques may be required for affected individuals who show underlying defects of the bones of the skull.

Physicians may suggest an affected child to wear helmets in order to avoid trauma and possible damage to abnormally wide blood vessels.

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