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Question: Diagnosis - Hallermann Streiff Syndrome
Answer: Hallermann-Streiff syndrome may be suspected shortly after birth or during the first year of life by the identification of characteristic physical findings and symptoms. The diagnosis may be confirmed by thorough clinical evaluation; a detailed patient history; and specialized tests (e.g., radiographic, ophthalmologic, and dental studies) that may help to detect and characterize the abnormalities associated with this disorder. Congenital cataracts with unusually small eyes (microphthalmia) are important findings for the initial diagnosis of Hallermann-Streiff syndrome, but other disorders must be considered as part of the differential diagnosis, and this is best accomplished through whole exome sequencing given the extensive differential diagnosis, which includes a number of autosomal recessive disorders.
(Source: National Organization for Rare Disorders (NORD), 10 Dec 2020)
Source Link: https://rarediseases.org/rare-diseases/hallermann-streiff-syndrome/