Rafeienejad Fatemeh, Keyhani Elahe, Akbarfahimi Nazila, Nouri Narges
Department of Occupational Therapy, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Clinical Research Development Center of Rofeideh Rehabilitation Hospital, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
J Med Case Rep. 2025 Jul 24;19(1):363. doi: 10.1186/s13256-025-05403-y.
Hao-Fountain syndrome (HAFOUS) is a rare neurodevelopmental disorder manifesting as several known symptoms, including speech and language delay, behavioral abnormalities, and intellectual disability. This rare condition is usually diagnosed by heterozygous deletion or mutation in the ubiquitin-specific protease 7 gene in conjunction with phenotype features.
We report the case of a 5-year-old Persian girl with this rare syndrome. The process of diagnosis, from perinatal examinations to the latest laboratory and clinical tests, is described for the first time in Iran.
Reporting all the symptoms of such a rare genetic case in detail emphasizes the importance of interdisciplinary teamwork and the necessity of raising awareness among therapists about probable upcoming problems; sharing such evident information with parents would help them manage the complexity of raising children with rare syndromes.
郝 - 方丹综合征（HAFOUS）是一种罕见的神经发育障碍，表现为多种已知症状，包括言语和语言发育迟缓、行为异常和智力残疾。这种罕见病症通常通过泛素特异性蛋白酶7基因的杂合缺失或突变结合表型特征来诊断。
我们报告了一名患有这种罕见综合征的5岁波斯女孩的病例。从围产期检查到最新实验室和临床检查的诊断过程在伊朗首次被描述。
详细报告此类罕见遗传病例的所有症状强调了跨学科团队合作的重要性以及提高治疗师对可能出现问题的认识的必要性；与家长分享这些明显的信息将有助于他们应对抚养患有罕见综合征孩子的复杂性。
