Acrorenal-Mandibular Syndrome

At a glance

Limb malformations with ectrodactyly, renal and uterine anomalies, and mandibular hypoplasia.

Synonyms

Acrorenal-Uterine-Mandibular Syndrome (ARUMS); Split-Hand and Split-Foot with Mandibular Hypoplasia Syndrome.

Incidence

Approximately 10 cases have been described to date.

Genetic inheritance

Parental consanguinity has been reported for 7 of the 10 cases described (but only in two of six families) with both sexes affected. Thus, autosomal recessive inheritance is most likely.

Diagnosis

At birth, the diagnosis is suspected based on the clinical aspect, oligohydramnios, and intrauterine growth retardation.

Clinical aspects

Pathological findings include intrauterine growth retardation, significant mandibular hypoplasia, high-arched or cleft palate, low-set and posteriorly rotated ears, severe ectrodactyly (split-hand, split-foot malformation, hypo- and dysplastic radius and ulna, rudimentary or absent tibia and fibula, decreased number of metacarpals and -tarsals and phalanges, some with cutaneous syndactyly) associ­ated with uterine (uterus didelphys, bicornuate, or unicornis) and visceral abnormalities (bilateral renal agenesis; in seven of ten patients), polycystic kidney disease (in two patients), hydronephrosis (in one patient), and absent or hypoplastic bladder. Other, less consistent findings are absent olfactory bulbs, choanal stenosis, short neck, diaphragmatic hernia, lung segmentation defects, tracheoesophageal fistula, intestinal malformations, abnormal vertebrae (butterfly and hemivertebrae) and kyphoscoliosis, pectus carinatum, and missing ribs. Bilateral renal agenesis obviously is not compatible with life, thus the majority of these patients either die shortly after birth or are stillbirth.

Precautions before anesthesia

Preoperative blood-work should include a complete blood count (renal anemia), serum electrolytes, creatinine and urea. Urine production and maximal allowed daily fluid intake should also be noted. Hemostasis may be affected by uremia.

Anesthetic considerations

In the presence of severe mandibular hypoplasia, difficult airway management should be expected. Maintenance of spontaneous ventilation is recommended until the airway has been secured. Alternative airway management options should be immediately available (eg, supraglottic airway device, fiberoptic bronchoscope) and adherence to an established difficult airway algorithm is advised. A surgeon familiar with surgical airway management and the necessary equipment should easily be available in the operating room. Awake fiberoptic intubation should be considered. Because of the orthopedic anomalies, positioning might be challenging and special care should be taken to avoid pressure sores and nerve injury. Peripheral intravenous access might be difficult.

Pharmacological implications

The dosage of drugs with predominantly renal excretion must be adapted according to the degree of renal insufficiency.

Other conditions to be considered

• ☞Mayer-Rokitansky-Küster-Hauser Syndrome (von Rokitansky Syndrome; Uterus Bipartitus Solidus Rudimentarius Cum Vagina Solida): Syndrome characterized by congenital absence of the vagina, a rudimentary uterus in the form of bilateral and non-canaliculated muscular buds, ...