#congenital disorder

• Agonadism — A highly rare congenital medical condition characterized by the complete structural and functional absence of gonads (testes or ovaries), caused by an anomaly in early embryonic development; it results in a lack of sex hormones and requires life-long hormone replacement therapy.
• Amyoplasia — A specific and most common form of arthrogryposis multiplex congenita, characterized by the defective muscular development or congenital absence of certain skeletal muscle groups, which are structurally replaced by fatty and fibrous tissue. This severe condition causes joint stiffness, symmetrical limb contractures, and reduced mobility from birth, typically without affecting the patient's intellectual development.
• Aniridia — A rare congenital ocular condition characterized by the complete or partial absence of the iris in one or both eyes. This structural anomaly is typically caused by a mutation in the PAX6 gene and is frequently accompanied by a severe reduction in visual acuity, nystagmus, pronounced photophobia, and a high risk of developing glaucoma or cataracts within the first decades of life.