McKusick-Kaufman Syndrome

Hydrometrocolpos develops in females and is associated with anomalies of the limbs (postaxial polydactyly) and congenital heart malformation. However, the same presentation associated with urogenital anomalies (e.g., hypospadias, prominent scrotal raphe) has been reported in males.

MKKS; Hydrometrocolpos Syndrome; Hydrometrocolpos, Postaxial Polydactyly, and Congenital Heart Malformation; HMCS; Kaufman-McKusick Syndrome.

Approximately 100 cases described.

Autosomal recessive; probably caused by a mutation. It has the same map locus (chromosome 20p12) and is similar to the Bardet-Biedl syndrome.

Hydrometrocolpos develops in the female fetus. It is a result of transverse vaginal membranes and excessive cervical secretions in response to maternal hormone. Intrauterine maternal hormone stimulation causes cervical gland secretion, which, in association with high vaginal obstruction, results in hydrometrocolpos. External compression of ureters by hydrometrocolpos may cause hydroureter and hydronephrosis. McKusick-Kaufman syndrome-predicted protein showed amino acid similarity to the chaperonin family of proteins, suggesting a role for protein processing in limb, cardiac, and reproductive system development.

Clinically and by gene mapping.

Female infants usually present with intraabdominal swelling (hydrometrocolpos) arising from the pelvis. This is associated with other abnormalities, including imperforate anus, malrotation of the gut, polydactyly, syndactyly, obesity, and congenital heart disease (septal defects). Less common features are abnormalities of the upper airway (larynx), pituitary dysplasia, and developmental delay. Males usually present with isolated polydactyly, but cryptorchidism and hypospadias have been described. Ellis van Creveld syndrome may be a phenotype for the male.

Some patients with Bardet-Biedl syndrome are described but never with the McKusick-Kaufman syndrome. Consequently, each system involved should be assessed, and good preoperative evaluation of the kidneys, larynx, and heart is advisable. Evaluation of cardiovascular system must include echocardiogram. Preoperative abdominal and renal ultrasonography. Evaluation of renal function with electrolytes, urea, and creatinine.

Direct laryngoscopy and tracheal intubation can be difficult if laryngeal anomalies are present. Neonates with severe hydrometrocolpos may present with diaphragm compression necessitating gastric decompression. Most patients will be tachypneic, tachycardiac, and cyanotic because of the large cystic mass. Anesthetic management must take into consideration the presence of congenital heart defects and be adapted accordingly. Surgical resection of an hydrometrocolpos may be associated with significant fluid shift and electrolyte imbalance.

Drugs requiring renal excretion should be avoided in the presence of kidney dysfunction. Endocarditis prophylaxis may be required for congenital heart disease.

Pallister-Hall Syndrome: Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly.

Bardet-Biedl Syndrome: Diagnostic pitfall: all McKusick-Kaufman syndrome patients should be reevaluated for retinitis pigmentosa and other signs of this syndrome in later childhood.

Ellis-van Creveld Syndrome: Achondroplastic disorder associated with polydactyly, abnormal development of fingernails, and cardiac defects (atrial septal defect [ASD] is the most common). Dandy-Walker malformation, epispadias, mental retardation, and renal agenesis are also considered features of this syndrome.