Hallerman-Streiff-like syndrome presenting with laterality and cardiac defects

Area of Science:

• Genetics and Rare Diseases
• Pediatric Cardiology
• Dermatology

Background:

• Hallerman-Streiff syndrome (HSS) is a rare genetic disorder characterized by distinctive facial features, skin atrophy, hypotrichosis, and frequently, ophthalmologic abnormalities.
• While respiratory issues due to narrow airways are common, cardiac defects and laterality defects are not typically considered classical features of HSS.

Observation:

• Two patients presented with atypical Hallerman-Streiff syndrome (HSS), exhibiting typical facial gestalt, skin atrophy, and hypotrichosis.
• Both patients experienced respiratory problems linked to narrow upper airways. Laterality defects were present in both, with one patient also having structural cardiac malformations.
• Ophthalmologic abnormalities, usually a hallmark of HSS, were observed in only one of the two patients.

Findings:

• The reported cases expand the phenotypic spectrum of Hallerman-Streiff syndrome (HSS) to include laterality defects and structural cardiac malformations.
• Situs inversus, a specific type of laterality defect, has not been previously reported in association with HSS.
• The findings suggest that cardiac and laterality defects may be under-recognized features of atypical HSS presentations.

Implications:

• This report underscores the importance of considering cardiac and laterality evaluations in patients with atypical Hallerman-Streiff syndrome (HSS).
• Further research is needed to elucidate the genetic basis and inheritance patterns of HSS, particularly concerning its association with congenital anomalies.
• These findings contribute to a better understanding of HSS variability and may aid in earlier diagnosis and management of affected individuals.