Hallermann-Streiff Syndrome
Patient Information
Characteristics
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.
Genetics
Inheritance
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.
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission
Autosomal recessive
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
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.
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