Scholarlink

<p>Hallermann-Streiff syndrome (HSS) is a rare genetic condition characterized by seven cardinal findings comprising congenital cataracts, microphthalmia, recognizable facial features, sparse hair with hypotrichosis, skin atrophy, dental anomalies, and short stature. Around 200 patients have been reported and almost all cases have been sporadic. Several reviews have described the clinical findings in patients reported to have HSS, but the lack of a genetic test or other biomarker has complicated an accurate delineation of the condition. Although HSS is suspected to have a genetic basis and non-recurrent deleterious variants in genes such as <i>GJA1</i>, <i>CHD6</i>, and <i>ZMPSTE24</i> have been noted in patients diagnosed with HSS, the etiology for almost all cases remains unknown. Our findings reveal a consistent phenotype but highlight the diagnostic challenges associated with HSS, including clinical overlap with other genetic conditions. It is also likely that the original reports of HSS described patients with heterogeneous conditions. Further research to identify the cause(s) of HSS and to develop best practices for patient care are needed.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

A review of Hallermann-Streiff syndrome demonstrates clinical overlap with other conditions

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年2月25日

查看全文
  • Caroline Cavender,
  • Carrie Atzinger,
  • Anne Slavotinek

摘要

Hallermann-Streiff syndrome (HSS) is a rare genetic condition characterized by seven cardinal findings comprising congenital cataracts, microphthalmia, recognizable facial features, sparse hair with hypotrichosis, skin atrophy, dental anomalies, and short stature. Around 200 patients have been reported and almost all cases have been sporadic. Several reviews have described the clinical findings in patients reported to have HSS, but the lack of a genetic test or other biomarker has complicated an accurate delineation of the condition. Although HSS is suspected to have a genetic basis and non-recurrent deleterious variants in genes such as GJA1, CHD6, and ZMPSTE24 have been noted in patients diagnosed with HSS, the etiology for almost all cases remains unknown. Our findings reveal a consistent phenotype but highlight the diagnostic challenges associated with HSS, including clinical overlap with other genetic conditions. It is also likely that the original reports of HSS described patients with heterogeneous conditions. Further research to identify the cause(s) of HSS and to develop best practices for patient care are needed.