Ahumada-Del Castillo Syndrome

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1. Klinefelter Syndrome (47, XXY) Klinefelter Syndrome (47, XXY) is a chromosomal variation in males in which one extra X chromosome is present, resulting in a 47, XXY karyotype. The extra X chromosome typically affects physical, neurodevelopmental, behavioral, and neurocognitive functioning. Common physical features may include tall stature, reduced muscle tone, small testes (hypogonadism), delayed pubertal development, and lack of […]...
2. Adie Syndrome, Holmes-Adie Syndrome Adie syndrome, or Holmes-Adie syndrome, is a rare neurological disorder affecting the pupil of the eye. In most patients, the pupil is larger than normal (dilated) and slow to react in response to direct light. Absent or poor tendon reflexes are also associated with this disorder. The syndrome is caused by damage to the postganglionic fibers of […]...
3. Adams-Oliver Syndrome (AOS) Adams-Oliver syndrome (AOS) is a rare inherited condition present at birth that involves changes to the limbs and scalp. Symptoms may include areas of missing skin on the scalp, limb abnormalities, heart defects, neurological concerns, and issues with the eyes. AOS is caused by harmful changes (mutations) in the ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, or RBPJ genes. Some people with AOS […]...
4. Evans Syndrome – Causes, Symptoms, Treatment Evans syndrome is an autoimmune condition that presents with two or more cytopenias, which commonly include autoimmune hemolytic anemia (AIHA) and immune thrombocytopenia (ITP), with or without immune neutropenia. This activity reviews the presentation, evaluation, and management of Evans syndrome and stresses the role of an interprofessional team approach to the care of affected patients. […]...
5. Susac Syndrome – Causes, Symptoms, Diagnosis, Treatment Susac syndrome is an autoimmune rare relatively rare disorder of the brain characterized by three main problems of impaired brain function (encephalopathy), partial or complete blockage (occlusion) of the small arteries and capillaries that supply blood to the retina (branch retinal artery occlusion, or BRAO), and inner ear disease (hearing loss, most notably). MRI of […]...
6. ADNP Syndrome, Helsmoortel-Van Der Aa Syndrome ADNP syndrome, also known as Helsmoortel-Van Der Aa syndrome, is a neurodevelopmental genetic disorder caused by changes (mutations) in the ADNP gene. These mutations occur spontaneously in the majority (97%) of reported patients, meaning there has been no family history of the disorder (de novo mutations). The hallmark features of the syndrome are intellectual disability, global developmental delays, […]...
7. Ablepharon Macrostomia Syndrome (AMS) Ablepharon-macrostomia syndrome (AMS) is a rare genetic disorder characterized by absent or underdeveloped eyelids (ablepharon or microblepharon) and a wide mouth (macrostomia). Characteristics mainly involve the face and skin and rarely involve the internal organs (viscera). Common signs and symptoms in addition to eye and mouth findings include low-set ears with attached earlobes, distortion or […]...
8. Autoimmune Inner Ear Disease Autoimmune inner ear disease (AIED) is an unusual form of progressive inflammatory non-age-related sensorineural hearing loss and sometimes vertigo, dizziness, tinnitus. It occurs in both ears with cochlear and vestibular symptoms that progress over a period of weeks to months and affects hearing, abnormal feeling in head and inner ear and often balance function, in […]...
9. Wiskott-Aldrich Syndrome – Causes, Symptoms, Treatment Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder that classically includes the characteristic triad of immunodeficiency, thrombocytopenia, and eczema. It results from a genetic mutation in the gene encoding the Wiskott-Aldrich syndrome protein (WASp). The disease has variable presentation ranging from the severe phenotype (classic WAS) to milder ones (X-linked thrombocytopenia and X-linked neutropenia). This […]...
10. Acrocallosal Syndrome Acrocallosal syndrome, Schinzel type is a rare genetic disorder that is apparent at birth (congenital). Associated symptoms and findings may be variable, including among affected members of the same family (kindred). However, the disorder is typically characterized by underdevelopment (hypoplasia) or absence (agenesis) of the thick band of nerve fibers joining the two hemispheres of […]...
11. Ulnar Mammary Syndrome Ulnar mammary syndrome is a rare inherited disorder characterized by abnormalities of the bones of the hands and forearms in association with underdevelopment (hypoplasia) and dysfunction of certain sweat (apocrine) glands and/or the breasts (mammary glands). Abnormalities affecting the hands and/or forearms range from underdevelopment of the bone in the tip of the fifth finger […]...
12. Ankyloblepharon-Ectodermal Dysplasia-cleft Lip/Palate (AEC) Syndrome Ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome, which is also known as Hay-Wells syndrome, ankyloblepharon-ectodermal defects-cleft lip/palate, ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome, Hay-Wells syndrome, Rapp-Hodgkin syndrome is a rare genetic disease with an autosomal dominant transmission with ectodermal dysplasia forms disorder characterized by a wide variety of symptoms that can affect the skin, hair, nails, teeth, certain glands, and […]...
13. Antiphospholipid Syndrome – Causes, Symptoms, Diagnosis, Treatment Antiphospholipid (AN-te-fos-fo-LIP-id) syndrome occurs when your immune system mistakenly creates antibodies that make your blood much more likely to clot. Antiphospholipid syndrome (APS) is an autoimmune syndrome caused by antiphospholipid antibodies. These antibodies are often referred to by different terms, including anticardiolipin antibody, lupus anticoagulant, and antiphospholipid antibody. APS can be primary or secondary, and also […]...
14. ACTH Deficiency Syndrome ACTH deficiency arises as a result of decreased or absent production of adrenocorticotropic hormone (ACTH) by the pituitary gland. A decline in the concentration of ACTH in the blood leads to a reduction in the secretion of adrenal hormones, resulting in adrenal insufficiency (hypoadrenalism). Adrenal insufficiency leads to weight loss, lack of appetite (anorexia), weakness, […]...
15. Bernard-Soulier Syndrome – Causes, Symptoms, Treatment Bernard-Soulier syndrome is a rare inherited blood clotting disorder that is characterized by unusually giant platelet cells, thrombocytopenia, and prolonged bleeding time. Affected individuals tend to bleed excessively and incur spontaneous ecchymoses. This activity reviews the evaluation and treatment of Bernard-Soulier syndrome and highlights the role of the healthcare team in evaluating and managing patients […]...