Marden-Walker Syndrome

Very rare inherited disorder characterized by blepharophimosis, immobile facies, abnormal jaw, microcytic disease of the kidney, and severe joint contractures. Other clinical features include curvature of the spine causing a hunchback, cleft lip and palate or high-arched palate, growth delay, and slow muscle movement.

Autosomal recessive.

Prenatal and severe postnatal growth deficiency; moderate-to-severe mental retardation with hypotonia; microcephaly with fixed facial expression and blepharophimosis; micrognathia and small mouth; seizures, ventricular dilation, cerebellar hypoplasia, agenesis of corpus callosum; multiple joint contractures present at birth; scoliosis, arachnodactyly; clubfeet; pectus excavatum or carinatum, absent clavicles (rare); pulmonary hypoplasia (rare). Most children die in early infancy as a consequence of aspiration, infection, or cardiac failure.

Check antiepileptic treatment, chest radiograph (chronic aspiration, lung hypoplasia). Proper cardiac investigation must be obtained. Kidney function should be evaluated.

Be prepared for difficult direct laryngoscopy and tracheal intubation; patients are at risk for perioperative aspiration; difficult venous access and positioning caused by joint contractures.

No specific implications, except in patients with kidney dysfunction and those receiving medications for seizures and cardiovascular problems.

Arthrogryposis (Arthrogryposis Multiplex Congenita): Congenital disease characterized by reduced mobility of multiple joints at birth as a consequence of proliferation of fibrous tissue. Severe joint contractures.

Schwartz-Jampel Syndrome: Characterized by the inability of muscles to relax after contractures (myotonia). Typical are abnormal bone formation and abnormalities of the face and eyes, short stature, low birth weight, short neck, pectus carinatum, and hunchback curvature.