Autoimmune Adrenalitis: A Comprehensive Medical Review Introduction Autoimmune adrenalitis represents the most common cause of primary adrenal insufficiency (Addison disease) in developed countries, accounting for 75-96% of cases. This autoimmune condition involves the progressive destruction of the adrenal cortex by immune-mediated mechanisms, resulting in deficient production of critical hormones including cortisol, aldosterone, and adrenal androgens. …
Auriculocondylar Syndrome: A Comprehensive Medical Overview Introduction Auriculocondylar syndrome (ACS) is a rare genetic craniofacial malformation disorder that primarily affects the development of the ears and lower jaw (mandible). First described in the medical literature in 1978, this autosomal dominant condition is characterized by distinctive ear malformations and mandibular anomalies that can significantly impact an …
Au Kline Syndrome: A Comprehensive Clinical Review Introduction Au-Kline syndrome (AKS), also known as Okamoto syndrome, is a rare autosomal dominant neurodevelopmental disorder first described in 2015 by Au et al. and subsequently refined through international collaborative efforts. This condition represents a complex multiple malformation syndrome characterized by distinctive facial features, moderate-to-severe intellectual disability, hypotonia, …
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome (Aughton-Hufnagle Syndrome) Overview Ankyloblepharon filiforme adnatum-imperforate anus syndrome, also referred to as Aughton-Hufnagle syndrome, is an extremely rare developmental malformation syndrome that occurs during embryogenesis. This condition is characterized by a specific constellation of congenital abnormalities affecting multiple organ systems, with the two primary features being eyelid fusion and anal …
Atypical Progeroid Syndrome: A Comprehensive Clinical Review Introduction Atypical progeroid syndrome (APS) represents a heterogeneous group of rare genetic disorders characterized by accelerated aging features that manifest later and with more variable expression compared to classical progeroid syndromes. Unlike Hutchinson-Gilford progeria syndrome (HGPS), which presents with uniform and severe early-onset aging features, APS demonstrates remarkable …
Canavan Disease (Aspartoacylase Deficiency): A Comprehensive Clinical Review Introduction Aspartoacylase deficiency, widely recognized as Canavan disease (CD) or Canavan-Van Bogaert-Bertrand disease, is a rare autosomal recessive neurodegenerative disorder that represents one of the most devastating leukodystrophies affecting infants and children. First described in 1931 by Myrtelle Canavan, this fatal condition is characterized by progressive spongiform …
Asparagine Synthetase Deficiency: A Comprehensive Clinical Review Introduction Asparagine synthetase deficiency (ASNSD), also known as ASNS deficiency, is a rare autosomal recessive neurometabolic disorder that exemplifies the critical role of amino acid metabolism in normal brain development and function. First described in 2013 by Ruzzo et al., this devastating condition is characterized by congenital microcephaly, …