Saethre-Chotzen Syndrome
Patient Information
Characteristics
Background and History
This malformation syndrome is named after two psychiatrists who independently described it. The clinical picture consists of a unique combination of skin and bone changes such as webbing between the toes, malformations of the skull, webbing between fingers and toes, and malformed ears.
Clinical Correlations
The sutures of the skull bones fuse abnormally causing the skull to be deformed, often asymmetrically. The ears are misshapen and there may be clefting of the oral palate. The frontal hairline may be low. The fingers and toes appear short. The lids often drop and the opening may slope downward. Growth and mental development are normal. Hearing loss is common and may be profound. These clinical features are highly variable, however, and the full clinical picture is unknown since there is considerable overlap with other similar syndromes.
Genetics
Inheritance
Family patterns are consistent with autosomal dominant inheritance and direct transmission from parent to child has been documented. Associated gene mutations have been found.
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
Diagnosis and Prognosis
The diagnosis requires a team approach as the clinical signs are highly variable and many are found in other syndromes as well. Lifespan seems to be normal. A report from Sweden suggests that there is an increased risk of breast cancer. The abnormal skull sutures may require surgery and the cleft palate likewise should be repaired.
Web Resources
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