Saethre-Chotzen Syndrome

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The features of this condition can be relatively minor – so minor, in many cases, that a doctor may miss the diagnosis. Because of this, it is not known how frequently the condition occurs. The major signs of the syndrome are: fusion of certain head bones that sometimes causes the head and face to be asymmetrical; low hairline with upturned hair follicles; ptosis (droopy eyelids); low-set ears and minor irregularities at the top of the ear and in the earfolds; a ‘beaked’ nose and a septum (the partition between the nostrils) that is deviated, or crooked; and short fingers (a condition known as brachydactyly), with a partial fusion of the second and third fingers and/or toes. In rare cases, the midface may appear receded. Individuals with this condition usually do not have impaired intelligence.

Learn more about Saethre-Chotzen syndrome in Related Articles: Craniosynostosis

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2017-11-15T15:48:28+00:00