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.
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
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.
Williams MS, Josephson KD, Wargowski DS: Marden-Walker syndrome: A case
report and a critical review of the literature. Clin Dysmorphol