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