Hallermann-Streiff Syndrome

Background and History: 

This congenital malformation syndrome was described in the 1950s by a German ophthalmologist, Wilhelm Hallermann, and a Swiss ophthalmologist, Enrico Bernardo Streiff.

Clinical Correlations: 

This is a complex multisystem disorder.  The eye findings are usually present at birth as a clouding of the lens (cataracts).  The eyes are often small and have a decreased space between them.  Scalp, eyebrow and eyelash hair is sparse and the skin, especially of the scalp, appears abnormally thin. Strabismus and ‘dancing eyes’ (nystagmus) may be present as well.

The skull is shortened, the forehead is prominent, the mouth appears small, and the jaw is shortened.  The latter may result in breathing problems and require special considerations for anesthesiologists during general anesthesia.  The nose is thin and tapered and often appears pointed.  The teeth do not develop normally.  Some may be missing and others are improperly aligned.  Some infants even have a few teeth present at birth.  Children often appear petite and short in stature.  Developmental delays are common but most individuals have normal or near-normal intelligence.


Most cases occur sporadically but others are caused by a gene mutation.  The inheritance pattern is uncertain but there is a 25-50 % risk of recurrence in familial cases.  Males and females are equally affected.

Diagnosis and Prognosis: 

Pediatricians often diagnosis Hallermann-Streiff syndrome at birth while some children are diagnosed by ophthalmologists because of the subnormal vision or the appearance of the cataracts as ‘white pupils’.  These often require removal during infancy to prevent amblyopia.  Airway obstruction is an important consideration whenever general anesthesia is contemplated.  There is a great deal of variability in symptoms.

Additional Information
Autosomal dominant
Autosomal recessive