Skip to Main Content

At a glance

It is an association of ocular disorders, distinctive facies characterized by a flattened nasal bridge (midface hypoplasia), anteverted nares, hypertelorism, myopia, cataracts, and sensorineural deafness. Other clinical features include protruding upper incisors, retinal detachment, glaucoma, and esotropia.

Synonyms

Deafness-Myopia-Cataract-Saddle Nose Syndrome; Marshall-Smith Syndrome; PFAPA Syndrome.

Incidence

The exact incidence remains unknown. It affects males and females in equal numbers.

Genetic inheritance

Autosomal dominant.

Clinical aspects

Diagnosis based on clinical examination, familial history, and typical radiograph: absent frontal sinuses; tentorial, falx, and meningeal calcifications; flat midface with shallow orbits. Eyes appear prominent with some hypertelorism. Myopia is most common in affected individuals. Other ophthalmological features include cataracts, congenital glaucoma, lens dislocation, and retinal detachment have been observed. Sensorineural deafness. The orofacial anomalies include a short nose with upturned tip and anteverted nares. The presence of cleft palate is frequent. Mental deficiency and short stature (anomalies of vertebral epiphyses) are associated with the clinical presentation. Associated ectodermal dysplasia has been described. Hyperextensibility and arthritis are present.

Precautions before anesthesia

There are no special precautions except the evaluation of the medication used to control the glaucoma as it may impact on the anesthetic.

Anesthetic considerations

Check medical treatment of glaucoma: inhibitor of carbonic anhydrase (serum electrolytes), topical beta-blockers (consider systemic effects). Careful protection of eyes. Skin padding in case of ectodermal dysplasia.

Pharmacological implications

There are no specific considerations except of the glaucoma medications, such as carbonic anhydrase inhibitors (serum electrolytes), and topical beta-blockers (systemic effects), may impact on the conduct of anesthesia.

Other conditions to be considered

  • Stickler Syndrome: Autosomal dominant hereditary progressive arthro-ophthalmology condition characterized by congenital abnormalities of the eye, micrognathia, and cleft palate. Other clinical features include flat midface, intracranial calcifications, and deafness. More than 50% patients affected with this condition have a mitral valve prolapse, and authors have suggested that in the presence of an autosomal dominant inherited mitral valve prolapse, a Stickler Syndrome should be suspected until proven otherwise.

  • Wagner Syndrome: Inherited as an autosomal dominant pattern and characterized by facial abnormalities, an underdeveloped jaw, saddle nose, cleft palate, and vision abnormalities. Joint hyperextensibility and hip deformities may occur. Patients with Wagner Syndrome do not have retinal detachment as reported with Marshall and Stickler Syndromes. Three types of Wagner Syndrome are defined as mild, moderate, and severe.

  • Weissenbacher-Zweymüller Syndrome (Pierre-Robin with Fetal Chondrodysplasia Syndrome): Characterized by neonatal micrognathia and rhizomelic chondrodysplasia with dumbbell-shaped femora and humeri. Other clinical features may include proximal limb shortness, midface hypoplasia, myopia, high incidence of parietal-occipital encephalocele or meningocele, and cleft palate.

  • Otospondylomegaepiphyseal Dysplasia: Characterized by midfacial hypoplasia, saddle-like nose, deafness, and severe ...

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.