Ellis-Van Creveld Syndrome

Inherited form of short-limbed dwarfism often seen among the Old Order Amish community in Lancaster County, Pennsylvania (USA).

Chondroectodermal Dysplasia; Mesoectodermal Dysplasia Syndrome.

Genetic skeletal dysplasia first described by Richard W.B. Ellis (1902-1966) from Edinburgh and Simon van Creveld (1895-1971) from Amsterdam. Together with Jeune Syndrome, it is grouped into the nonlethal short rib-polydactyly syndromes.

Approximately 250 cases have been described. No sexual predilection has been reported.

Autosomal recessive with linkage of the Ellis-van Creveld (EVC) phenotype to genetic markers on the short arm of chromosome 4p16.

Unknown; however, the cartilage of long bones and vertebrae of fetuses with EVC syndrome shows disorganization of the chondrocytes in the physeal growth zone and retardation of the short columellar arrangements in the physis.

Dwarfism with profound shortening of the distal parts of the extremities (mesomelic shortening), already identifiable at birth. Skeletal histopathology via fetoscopy and ultrasound can be used for prenatal diagnosis.

Features may include micrognathia, polydactyly, and abnormalities of the ectoderm (onychodystrophy, anomalies in the upper lip variously called “partial hare lip” or “lip tie,” and cleft lip/palate), and dysodontiasis (congenital teeth, partial anodontia, malpositioned teeth). Of particular importance are the presence of cardiac malformations in 60% of affected patients (commonly a septal defect or single atrium). Respiratory distress is frequent in neonates as a result of hypoplastic lungs within a narrow dysplastic thorax with extremely short ribs. Hypoplasia of the tracheobronchial cartilage tends to result in collapse of the tracheobronchial tree causing tension lobar emphysema and may further exacerbate any respiratory compromise. Dandy-Walker malformation, hydrocephalus, and mental retardation occur occasionally. Genital anomalies are common (epispadias and hypospadias, cryptorchism, megaureter, hydronephrosis, renal agenesis). Management consists of dental care, plastic surgery for treatment of polydactyly, and correction of cardiac defects.

Assess the airway for difficult management secondary to the presence of cleft lip/palate and micrognathia. Check for cardiac lesions including cor pulmonale (clinical examination, electrocardiography, and echocardiography). Evaluate for signs of airway collapse (stridor) and assess pulmonary function (clinical examination, chest radiographs, arterial blood gas analysis, and pulmonary function tests). Assess renal function (serum concentrations of electrolytes, creatinine, and urea). Check for signs of increased intracranial pressure.

Intravenous access can be difficult secondary to excessive lax skin and subcutaneous tissue. If difficult airway management is suspected, spontaneous ventilation should be maintained until the airway has been secured. In patients with pulmonary hypertension, anesthetic management should aim to avoid any further increase in pulmonary artery pressure (avoid acidosis, hypercarbia, and hypoxia). Ventilation may require assistance to some degree during an induction with maintained spontaneous ventilation to prevent significant hypercapnia with consequently increased pulmonary vascular resistance (PVR). The patient's weight rather than the age best predicts endotracheal tube size. Airway collapse as a result of bronchial cartilage hypoplasia may complicate general anesthesia. Avoid high airway pressures during controlled ventilation to minimize barotrauma and further gas trapping in the presence of lobar emphysema. Repeated arterial blood gas analyses are strongly recommended for patients with respiratory impairment (arterial catheter may be considered). Prolonged postoperative mechanical ventilation may be required in patients with dysplastic thorax.

Anticholinergic agents may be useful in patients with suspected airway management problems. Restrictive lung disease prolongs inhalational induction. Neuromuscular blockers should be avoided until the airway has been secured. Subacute bacterial endocarditis prophylaxis may be required. Kidney dysfunction may affect elimination of (predominantly renally excreted) drugs.

Other Conditions to Be Considered

Jeune Syndrome: Very rare form of chondrodysplasia often leading to death in infancy from respiratory insufficiency as a result of severe thoracic restrictive deformation. Commonly associated with multiple skeletal malformations and liver, renal, and retinal dysfunction.

Saldino-Noonan Syndrome (Short-Rib Polysyndactyly Syndrome): Lethal, autosomal recessive inherited skeletal dysplasia characterized by a hypoplastic thorax, short ribs and limbs, polydactyly, and visceral abnormalities (e.g., transposition of the great arteries, polycystic kidneys, atretic lesions of the gastrointestinal and genitourinary systems). The pelvis resembles that in the Ellis-van Creveld syndrome and Jeune syndrome.

Majewski Syndrome (Short-Rib Polysyndactyly Syndrome): Autosomal recessive inherited disorder characterized by short stature with extremely short limbs, preaxial and postaxial polysyndactyly of hands and feet, short ribs, premature ossification of the proximal humerus and femur epiphyses and the lateral cuboids, malformed ears, short and flat nose, median cleft lip/palate, genital abnormalities (ambiguous genitalia), anomalies of the epiglottis and larynx (malformed larynx with hypoplastic epiglottis), pulmonary hypoplasia, and glomerular and renal tubular cysts leading to renal failure. Sometimes associated with polyhydramnios and hydrops fetalis.

Verma-Naumoff Syndrome (Short-Rib Polysyndactyly Syndrome): Autosomal recessive inherited disorder characterized by polydactyly, short ribs, and narrow chest with neonatal asphyxia, often resulting in early death. Craniofacial anomalies include frontal bossing, flat occiput, and depressed nasal bridge. Genitourinary anomalies are common.

Beemer-Langer Syndrome: Genetic disorder characterized by multiple skeletal (and other) anomalies and death either in utero or in the early neonatal period as a result of respiratory failure.

Weyers Syndrome II: Recognized phenotype of the Ellis-van Creveld syndrome, also presenting with heart defects (atrial or ventricular septal defects in >70% of patients) and postaxial polydactyly of the hands and feet, hexadactyly, fusion of the fifth and sixth metatarsals and metacarpals, and bony clefts of the mandibular symphysis. Other features may include short stature, micrognathia, small mouth, orodental anomalies, hypoplasia of the larynx, and hypoplastic and dysplastic nails.