Absence Defect of Limbs, Scalp and Skull

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Absence Defect of Limbs, Scalp and Skull

The physical abnormalities in the patients who have this disorder vary greatly among affected individuals. Few patients are affected very mildly while other patients may be severely affected. In Infants suffering with Adams Oliver syndrome, scalp defects are present at birth or congenitally that may include one or multiple hairless scarred areas with abnormally wide and dilated blood vessels directly under the affected skin.

In some cases an underlying defect of the bones of the skull may also be present in addition to the other abnormalities. Infants suffering with this disorder present with malformations of the hands, arms, feet, and/or legs. The disorders range from abnormally short or hypoplastic fingers and toes to absent hands and/or lower legs.

In some patients additional abnormalities may also be present. Some cases of Adams-Oliver syndrome occur randomly as the result of a spontaneous genetic change or mutations. It has been concluded that the disease is inherited in autosomal dominant fashion.

Adams Oliver Syndrome (AOS) is a very rare disorder that causes scalp, skull, and limb abnormalities. This disorder has variable penetrance, meaning that the disorder manifestation (such as the presence of physical defects, other signs and symptoms) is variable in each individual

According to National Organization for Rare Disorders (NORD), this genetic disorder has been reported to be running in multiple members of same families for more than one generation

The treatment of the condition is supportive with surgical management of the defects; it requires a specialized medical team. The prognosis of Adams Oliver Syndrome is variable and depends on its severity

What are the other Names for this Condition?

  • Absence Defect of Limbs, Scalp, and Skull
  • Aplasia Cutis Congenita with Terminal Transverse Limb Defects
  • Congenital Scalp Defects with Distal Limb Reduction Anomalies

What is Adams Oliver Syndrome?

Adams Oliver Syndrome (AOS) is a very rare disorder that causes scalp, skull, and limb abnormalities. This disorder has variable penetrance, meaning that the disorder manifestation (such as the presence of physical defects, other signs and symptoms) is variable in each individual

According to National Organization for Rare Disorders (NORD), this genetic disorder has been reported to be running in multiple members of same families for more than one generation

The treatment of the condition is supportive with surgical management of the defects; it requires a specialized medical team. The prognosis of Adams Oliver Syndrome is variable and depends on its severity

What are the Risk Factors for Adams Oliver Syndrome?

When one or both parent(s) have Adams-Oliver Syndrome, the risk of a child being born with this disorder is 25-50%

There is an increased chance of a child being born with the disorder, if the parents are closely related (by blood)

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

Symptoms – Absence defect of limbs, scalp and skull

  • Growth deficiency
  • Abnormal membranous skin patches on scalp
  • Bone defect under abnormal scalp skin patches
  • Foot defects
  • Hand defects
  • Finger defects
  • Toe defects
  • Short fingers
  • Small toenails
  • Cutis marmorata
  • Lower leg defects
  • Short toes
  • Absent fingers
  • Absent toes
  • Absent foot
  • Absent hand
  • Missing bone sections of finger
  • Missing bone sections of toe
  • Hairless scarred patches of scalp
  • Patches of dilated blood vessels under scalp lesions
  • Skull bone defect
  • Short fingers
  • Short toes
  • Absend lower legs
  • Absent hands
  • Spinal dysraphism

How is Adams Oliver Syndrome Diagnosed?

The following tools are used in the diagnosis of Adams Oliver Syndrome:

Thorough evaluation of the individual’s medical history and a complete physical examination

During history taking, the physician may want to know the following:

When the symptoms began and whether they are becoming worse

About the family history of the disorder, members affected, etc

The diagnosis is suspected at birth (or even before birth during a prenatal ultrasound) based on the characteristic features

The clinical diagnosis of Adams-Oliver Syndrome is made based on 2 major criteria. When one condition of each major and minor criterion is present, it would be suggestive of Adams-Oliver Syndrome:

Major criteria:

Limb defects

Aplasia cutis congenital (absence of skin)

Family history of Adams Oliver Syndrome

Minor criteria:

Cutis marmorata (skin has marbled appearance in cold temperatures)

Congenital heart defect

Vascular problems            

Cardiac diagnostic tests, such as echocardiography, may be performed in all individuals with this disorder, as 20% of the affected individuals may have associated cardiac defects

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

How can Adams Oliver Syndrome be Prevented?

Currently, there are no specific methods or guidelines to prevent Adams Oliver Syndrome, since it is a genetic condition

Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy

If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child

Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

What are the possible Complications of Adams Oliver Syndrome?

Complications of Adams Oliver Syndrome may include:

The scalp deformities may bleed or may become the entry point for germs to cause meningitis (infection of tissue covering the brain)

Disability due to limb defects

Heart defects may progress to heart failure, if it is not promptly diagnosed and treated

How is Adams Oliver Syndrome Treated?

The treatment options for Adams Oliver Syndrome are aimed at treating the various congenital defects and offering symptomatic support. They may include:

Orthopedic consult and surgery for scalp and limb defects

Prosthesis for the affected limbs

Generally, a multidisciplinary team approach involving orthopedicians, pediatricians, cardiologists, physical therapists, or social workers may be required.

What We Know About Upper and Lower Limb Reduction Defects

How often does limb reduction defects occur?

CDC estimates that each year about 1,500 babies in the United States are born with upper limb reductions and about 750 are born with lower limb reductions.1 In other words, each year about 4 out of every 10,000 babies will have upper limb reductions and about 2 out of every 10,000 babies will have lower limb reductions. Some of these babies will have both upper and lower limb reduction defects.

What problems do children with limb reduction defects have?

Babies and children with limb reduction defects will face various issues and difficulties, but the extent of these will depend on the location and size of the reduction. Some potential difficulties and problems include:

  • Difficulties with normal development such as motor skills
  • Needing assistance with daily activities such as self-care
  • Limitations with certain movements, sports, or activities
  • Potential emotional and social issues because of physical appearance

Specific treatment for limb reduction defects will be determined by the child’s doctor, based on things like the child’s age, the extent and type of defect, and the child’s tolerance for certain medications, procedures, and therapies.

The overall goal for treatment of limb reduction defects is to provide the child with a limb that has proper function and appearance. Treatment can vary for each child. Potential treatments include:

  • Prosthetics (artificial limbs)
  • Orthotics (splints or braces)
  • Surgery
  • Rehabilitation (physical or occupational therapy)

It is important to remember that some babies and children with limb reductions will have some difficulties and limitations throughout life, but with proper treatment and care they can live long, healthy, and productive lives.

What We Still Do Not Know About Upper and Lower Limb Reduction Defects

What causes limb reduction defects?

The cause of limb reduction defects is unknown. However, research has shown that certain behaviors or exposures during pregnancy can increase the risk of having a baby with a limb reduction defect. These include:

  • Exposure of the mother to certain chemicals or viruses while she is pregnant
  • Exposure of the mother to certain medications
  • Possible exposure of the mother to tobacco smoking (although more research is needed)

CDC works with many researchers to study risk factors that can increase the chance of having a baby with limb reduction defects, as well as outcomes of babies with the defect. Following are examples of what this research has found:

  • A woman taking multivitamins before she gets pregnant might decrease her risk for having a baby with limb reduction defects, although more research is needed.
  • Certain sets of limb reduction defects might be associated with other birth defects, such as heart defects, omphalocele, and gastroschisis.

Can limb reduction defects be prevented?

There is no known way to prevent this type of defect, but some of the problems experienced later in life by a person born with a limb reduction defect can be prevented if the defect is treated early.

Even so, mothers can take steps before and during pregnancy to have a healthy pregnancy. Steps include taking a daily multivitamin with folic acid (400 micrograms), not smoking, and not drinking alcohol during pregnancy.

For More Information Visit Our Website: https://www.healthinfi.com/

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