An extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other ano...
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation for alopecia - intellectual disability syndrome is limited primarily due to its extreme rarity, affecting fewer than 20 families globally. This low prevalence restricts the ability to conduct systematic clinical studies and gather comprehensive data. Additionally, the absence of identified genetic causes and established inheritance patterns contributes to the challenges in understanding this condition fully.
Key clinical features of alopecia - intellectual disability syndrome include microcephaly (80-99%), aplasia or hypoplasia of the eyebrows (80-99%), hearing impairment (80-99%), and intellectual disability (80-99%). Additional features may include hypotonia (80-99%), alopecia (80-99%), sparse scalp and body hair (80-99%), delayed skeletal maturation (80-99%), and hypergonadotropic hypogonadism (30-79%). These symptoms significantly impact the affected individuals' daily lives and development.
To navigate your care effectively, consider consulting with a specialist in genetic disorders or a neurologist with expertise in developmental disabilities. These professionals can provide tailored guidance based on your unique situation. Additionally, you can explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for further information. While there are no patient organizations specifically for this syndrome, participating in clinical trials may offer additional support and insights into the condition.
Currently, there are no orphan drug designations for alopecia - intellectual disability syndrome. However, there is one active clinical trial that may provide insights into potential treatments or management strategies. You can explore this trial further at ClinicalTrials.gov by searching for 'alopecia - intellectual disability syndrome'. This research offers hope for better understanding and management of the condition.
Actionable guidance for navigating care for alopecia - intellectual disability syndrome
To navigate your care effectively, consider consulting with a specialist in genetic disorders or a neurologist with expertise in developmental disabilities. These professionals can provide tailored guidance based on your unique situation. Additionally, you can explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for further information. While there are no patient organizations specifically for this syndrome, participating in clinical trials may offer additional support and insights into the condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 6, 2026
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.