Adams-Oliver syndrome in Infant/Neonate
Both genetic and sporadic inheritance have been reported in the medical literature; however, in most cases, this syndrome is inherited in an autosomal dominant fashion. Recently, two different truncating mutations in the ARHGAP31 gene were found with a locus on chromosome 3q13.31-q13.33. In addition, an autosomal recessive form is caused by a mutation in the DOCK6 gene on chromosome 19p13.2.
Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified
34748004 – Adams-Oliver syndrome
Differential Diagnosis & Pitfalls