McKusick Kaufman syndrome
Overview
McKusick-Kaufman syndrome (MKS) is characterized by the triad of postaxial polydactyly (PAP), congenital heart disease (CHD), and hydrometrocolpos (HMC) in females and genital malformations in males (most commonly hypospadias, cryptorchidism, and chordee). HMC in infants usually presents as a large cystic abdominal mass arising out of the pelvis and is caused by dilatation of the vagina and uterus as a result of the accumulation of cervical secretions from maternal estrogen stimulation. HMC can be caused by failure of the distal third of the vagina to develop (vaginal agenesis), a transverse vaginal membrane, or an imperforate hymen. Cardiac malformations that have been described at least once in individuals with MKS include atrioventricular (AV) communis with a left-sided superior vena cava, atrial septal defect, ventricular septal defect, AV canal, small aorta and hypoplastic left ventricle, tetralogy of Fallot, and patent ductus arteriosus.
Symptoms
* Respiratory embarrassment * Urinary obstruction * Intestinal obstruction * Circulatory obstruction * Abdominal mass * Imperforate hymen * Transvaginal membrane * Vaginal atresia * Vaginal fluid accumulation * Uterine fluid accumulation * Breast swelling * Milk production * Extra fingers * Extra toes * Congenital heart malformation * Accumulation of menstrual blood in vagina
Diagnosis
Diagnosis of MKS is based on clinical findings. The diagnosis of MKS in a female with HMC and PAP cannot be made until at least age five years and requires absence of features of Bardet-Biedl syndrome (BBS). MKKS is the only gene currently known to be associated with MKS. Molecular genetic testing of the MKKS gene is available on a research basis only.
Treatment
Treatment of MKS includes surgical repair of the obstruction causing hydrometrocolpos and drainage of the accumulated fluid. Treatment for polydactyly, syndactyly, and congenital heart defects is standard. Routine surveillance for manifestations of BBS includes growth and developmental assessments, ophthalmologic examination, and electroretinogram (ERG).