MURCS Association

MURCS is an acronym for müllerian duct aplasia, renal aplasia, cervicothoracic somite dysplasia. Very rare disorder that affects only females. Characterized by absence of the uterus, cervix, and upper part of the vagina; kidney agenesia or ectopia; and malformations of the radial ray (phocomelia), ribs, and cervicothoracic spine. Urogenital abnormalities include müllerian duct agenesis. In some cases, neural tube defects, such as occipital encephalocele, can be present. Some affected females exhibit craniofacial malformations.

DK-Phocomelia Syndrome; von Voss-Cherstvoy Syndrome; Müllerian Duct-Renal-Cervicothoracic-Upper Limb Defect Syndrome; Müllerian Duct and Renal Agenesis with Upper Limb and Rib Anomalies; Müllerian-Renal-Cervicothoracic Somite Abnormalities.

The name DK-Phocomelia originates from the initials of the last names of the two first-described patients. E. Cherstvoy was the first to report this medical condition in 1980.

It is estimated as 1:4000-5000 female newborns and 1:20,000 female visits at a gynecological hospital.

Although most of the cases seem to occur sporadically, autosomal recessive transmission has been reported.

The malformations are compatible with a defect in the arrangement of the paraxial mesoderm giving rise to the occipital, cervical, and thoracic somites and the adjoining intermediate mesoderm. These structures contribute to the genesis of occipital bone, cervical spine, upper limbs, and urogenital system.

The major findings are the presence of kidney (unilateral or bilateral agenesis, horseshoe kidney) and genital anomalies (müllerian duct agenesis, absence of the cranial two thirds of the vagina, hypoplasia of the uterus). However, affected females usually have normal sexual development because of (most often) normal ovarian function. Other defects may include occipital encephalocele, cerebral cysts, cerebellar hypoplasia, seizures, congenital heart disease (absent papillary muscle of tricuspid leaflet, abnormal coronaries), abnormal lobation of the lungs, and diaphragmatic agenesis. Orthopedic features include phocomelia, radial ray, finger, and vertebral anomalies (approximately 80% have cervicothoracic anomalies, particularly from C5 to T1) and may include Sprengel deformity, cervical fusion vertebrae, single or multiple hemivertebra(e), and scoliosis. Short stature is common for these patients. Furthermore, hemifacial microsomia, small mandible, cleft palate, short, webbed neck, unilateral adrenal and ovarial agenesis, and thrombocytopenia have all been reported.

Obtain baseline renal function tests. Thorough examination of the cardiac system including ECG and echocardiogram, if deemed necessary. Complete blood count (thrombocytopenia) and chest and cervical radiographs. Carefully assess the airway (micrognathia) and cervical range of motion.

Airway management may be difficult because of micrognathia (often mild) and vertebral anomalies with a short neck. Neuraxial anesthesia is not recommended because of thrombocytopenia, vertebral anomalies, and encephalocele/cerebral cysts. Anesthetic management is dictated by the cardiac disease. Anomalies of the arm may render vascular access and placement of blood pressure cuff and tourniquets difficult.

In the presence of renal anomalies with decreased renal function, avoid drugs eliminated mainly by the kidney or adjust the dosage accordingly (e.g., neuromuscular relaxants and antibiotics). In the presence of a seizure disorder, potentially epileptogenic drugs, such as methohexital, ketamine, enflurane, sevoflurane, atracurium, cis-atracurium, and meperidine (applies to the latter three only if given in large quantities because of their metabolites laudanosine and normeperidine, respectively), should be avoided. Chronic antiseizure medication can lead to induction of hepatic enzymes, accelerating the metabolism of predominantly hepatic-eliminated drugs. If congenital heart disease is present, subacute bacterial endocarditis prophylaxis may be warranted. Any heart medications must be maintained peroperatively.

VACTERL Association: Rare disorder occurring equally in males and females. Acronym for vertebral dysgenesis, anal atresia, cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects.

Winter Syndrome: Extremely rare disorder that affects only females. Characterized by vaginal atresia, unilateral renal hypoplasia or agenesis, and/or ear malformations. In some cases, the fallopian tubes, ovaries, and uterus are normal; however, some affected females exhibit internal genital abnormalities in addition to vaginal atresia.

Klippel-Feil Syndrome: Rare skeletal disorder that affects both males and females. Cervical vertebrae are either missing and/or fused. Other features include scoliosis or kyphoscoliosis, spina bifida occulta, and unilateral renal agenesis.

Sprengel Deformity: Rare birth defect characterized by elevation and/or underdevelopment of the scapula, limited movement of the arm on the affected side, hypoplasia of shoulder muscles, scoliosis, fused vertebrae, hemivertebrae, and spina bifida occulta. Occurs sporadically. May be inherited as an autosomal dominant genetic trait.

Goldenhar Syndrome: Common birth defect of vascular origin involving first and second branchial arch derivatives. Hemifacial microsomia associated with congenital heart defects such as VSD, PDA, tetralogy of Fallot, and aortic coarctation.

Mayer-von Rokitansky-Kuster-Hauser Syndrome: Characterized by the congenital absence of the vagina, in presence of a female with normal secondary sexual characteristics. The uterus is rudimentary in the form of bilateral and noncanaliculated muscular buds. However, normal tubes and ovaries are present. The endocrine functions are normal and the cytogenetic evaluation does not suggest any anomalies. Primary amenorrhea is often the first reason for evaluation. There is evidence of female-limited autosomal dominant inheritance.

Rokitansky Sequence: Characterized by a clinical association with the facioauriculovertebral sequence, also called Goldenhar syndrome. Other features of the Rokitansky sequence include bilateral femoral hypoplasia (proximal femoral focal deficiency). Patients usually have normal kidneys.