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Dr. Andrew Rynne
Dr. Andrew Rynne

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Exp 50 years

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Article Home Children's Health Absence Defect of Limbs Scalp and Skull

Absence Defect of Limbs Scalp and Skull

Absence Defect of Limbs Scalp and Skull or Adams Oliver Syndrome is also known as Congenital Scalp Defects with Distal Limb Reduction Anomalies or Aplasia Cutis Congenita with Terminal Transverse Limb Defects. It is an extremely rare inherited disorder in which patients has defects of the scalp and abnormalities of the fingers, toes, arms, and/or legs.


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.