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
MKKS; Hydrometrocolpos Syndrome; Hydrometrocolpos,
Postaxial Polydactyly, and Congenital Heart Malformation; HMCS;
Approximately 100 cases described.
Autosomal recessive; probably caused by a
mutation. It has the same map locus (chromosome 20p12) and is similar to the
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.
severe hydrometrocolpos may present with diaphragm compression
necessitating gastric decompression. Most patients will be tachypneic,
and cyanotic because of the large cystic mass.
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.
Kumar D, Primhak RA, Kumar A: Variable phenotype ...