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Question: Causes - Hallermann Streiff Syndrome

Answer: In almost all reported cases, Hallermann-Streiff syndrome has occurred randomly for unknown reasons (sporadically), most likely due to a new spontaneous dominant genetic change (mutation). There have been reports of patients with this disorder reproducing successfully and bearing multiple normal children. From families with an affected child, there is little evidence for this being a recessively inherited disorder in which both parents are carriers (normal looking but carry the mutation). Therefore, the mode of inheritance of this disorder remains elusive making it difficult to determine the exact recurrent risk.

Hallermann-Streiff syndrome bears some similarity to some progeroid syndromes that belong to the laminopathies, such as Hutchinson-Gilford progeria syndrome (caused by de novo point mutations in the LMNA gene) and mandibuloacral dysplasia (recessive disorders resulting from mutations in LMNA and ZMPSTE24). ZMPSTE24 and ICMT encode proteins involved in posttranslational processing of lamin A. Sequencing of the genes LMNA, ZMPSTE24 and ICMT in 8 patients with Hallermann-Streiff syndrome revealed no evidence that this disorder is a type of laminopathy, but these other conditions remain part of the differential diagnosis, particularly when autosomal recessive inheritance is suspected.

(Source: National Organization for Rare Disorders (NORD), 10 Dec 2020)

Source Link: https://rarediseases.org/rare-diseases/hallermann-streiff-syndrome/