Dictionary
Andrade’s Syndrome: Hereditary Neuropathy
Explore Andrade's syndrome (familial amyloid polyneuropathy type I), an inherited transthyretin amyloidosis causing severe sensorimotor...
Rare Diseases
9 results
Dictionary
Amsterdam Dwarfism: Clinical Profile
Amsterdam dwarf disease, clinically termed Cornelia de Lange syndrome (CdLS), is a rare genetic cohesinopathy...
October 7, 2026
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Dr. Mohammed Looti
Dictionary
Amalric’s Syndrome: Deafness & Retinal Dystrophy
Amalric's syndrome (Diallinas-Amalric syndrome) is an inherited sensory condition pairing congenital sensorineural deafness with atypical...
October 6, 2026
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Dr. Mohammed Looti
Dictionary
Alström–Hallgren Syndrome: Rare Ciliopathy Insights
A comprehensive academic entry exploring Alström–Hallgren syndrome, an ultra-rare monogenic ciliopathy characterized by cone-rod dystrophy,...
October 6, 2026
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Dr. Mohammed Looti
Dictionary
Albright Hereditary Osteodystrophy: Genetic Guide
Explore Albright hereditary osteodystrophy (AHO), an inherited disorder linked to GNAS mutations, featuring brachydactyly, short...
October 6, 2026
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Dr. Mohammed Looti
Dictionary
Albright’s Disease: Mosaic Bone & Endocrine Disorder
Albright's disease (McCune-Albright syndrome) is a mosaic genetic disorder caused by somatic GNAS mutations, presenting...
October 6, 2026
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Dr. Mohammed Looti
Dictionary
Albinism: Genetics, Vision, and Phenotypes
Albinism is an inherited metabolic condition defined by disrupted melanin synthesis. Explore its genetic etiology,...
October 6, 2026
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Dr. Mohammed Looti
Dictionary
Adult Progeria: Decoding Werner Syndrome
Adult progeria, or Werner syndrome, is an ultra-rare autosomal recessive disorder caused by WRN gene...
October 6, 2026
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Dr. Mohammed Looti
Dictionary
Acrodysostosis: Skeletal and Endocrine Rare Disease
Acrodysostosis is a rare genetic disorder characterized by severe skeletal dysplasia, brachydactyly, facial dysmorphism, and...
October 5, 2026
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Dr. Mohammed Looti