Adams-Oliver syndrome. Absence Defect of Limbs, Scalp and Skull.
Incidence
Most cases are transmitted as an autosomal dominant trait but some have autosomal recessive transmission with familial as well as sporadic occurrence.
Clinical Characteristics
A rare syndrome of defects of the scalp and cranium associated with distal limb anomalies and occasional mental retardation. Adams-Oliver Syndrome is an extremely rare inherited disorder characterized by defects of the scalp and abnormalities of the fingers, toes, arms, and/or legs. The physical abnormalities associated with this disorder vary greatly among affected individuals. Some cases may be very mild while others may be severe. In infants with Adams-Oliver Syndrome, scalp defects are present at birth (congenital) and may include one or multiple hairless scarred areas that may have abnormally wide (dilated) blood vessels directly under the affected skin. In severe cases, an underlying defect of the bones of the skull may also be present. In addition, infants with this disorder typically have malformations of the hands, arms, feet, and/or legs. These range from abnormally short (hypoplastic) fingers and toes to absent hands and/or lower legs. In some cases, additional abnormalities may also be present. Some cases of Adams-Oliver Syndrome occur randomly as the result of a spontaneous genetic change (i.e., new mutation). Inheritance is autosomal dominant.
Precipitants
None.
Provocation Tests
None.
Diagnostic Procedures
It is a clinical diagnosis.