McKusick–Kaufman Syndrome

"Introduction

McKusick–Kaufman Syndrome was initially described by McKusick and further defined by Kaufman and colleagues. More than 60 cases of this syndrome have been described so far.
This is an autosomal recessive syndrome with variable expression within the same family, different families and different sex. Heterozygous are asymptomatic. There is a known mutation in 20p12 in the MKKS gene.

Syndrome is more frequent in females. In males, the findings are limited to finger abnormalities and sometimes genital abnormalities such as hypospadias or micropenis. The final diagnosis can not be made until at least age five years.

Findings in affected females include hydrometrocolpos, postaxial polydactyly and sometimes cardiac defects. Hydrometrocolpos can be caused by failure of the distal third of vagina to develop, a transverse vaginal membrane or imperforate hymen. Cardiovascular malformations include atrial and ventricular septal defect, AV canal, small aorta and hypoplastic left ventricle, tetralogy of Fallot and patent ductus arteriosus. Retrograde flow of the secretion collected in the vagina into the peritoneal cavity can lead to fetal ascites. The increased vaginal secretion is caused by an high level of maternal estrogen.

Differential Diagnosis

Bardet Biedl syndrome, phenotypic differences between these two syndromes become evident later in life, usually after the age of 4-5 years. Bardet Biedl syndrome has a significant morbidity and mortality due to rod-cone atrophy leading to blindness and obesity, compared to a more benign nature of McKusick-Kaufman syndrome when not associated with cardiac defects.
The close relationship between Bardet Biedl syndrome and McKusick-Kaufman syndrome has been further complicated by alterations in the MKKS gene in both McKusick-Kaufman syndrome and in 4-6 % of individuals with Bardet Biedl syndrome. Highlighting this diagnostic limitation at the time of prenatal diagnosis is crucial during the counseling.

Ellis van Creveld syndrome, which is characterized by chondrodysplasia with acromelic growth retardation, polydactyly, ectodermal dysplasia with dystrophy of the nails, and congenital heart disease.

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