200 rare diseases known to modern medicine

  1. Castleman Disease: A rare disorder in which benign (not cancer) growths form in lymph node tissue.
  2. Fibrodysplasia Ossificans Progressiva (FOP): A rare genetic disorder characterized by the abnormal growth of bone in soft tissues.
  3. Hutchinson-Gilford Progeria Syndrome: A rare genetic condition causing rapid aging in children.
  4. Stiff Person Syndrome: A rare neurological disorder characterized by severe muscle stiffness and spasms.
  5. Aquagenic Urticaria: A rare condition where individuals develop hives upon contact with water.
  6. Paraneoplastic Pemphigus: A rare autoimmune blistering disorder associated with underlying cancer.
  7. Harlequin Ichthyosis: A severe genetic skin disorder resulting in thickened, diamond-shaped scales.
  8. Maple Syrup Urine Disease: A rare metabolic disorder affecting the breakdown of certain amino acids.
  9. Proteus Syndrome: A rare genetic disorder characterized by overgrowth of bones, skin, and other tissues.
  10. Trimethylaminuria (Fish Odor Syndrome): A rare metabolic disorder causing a strong body odor resembling fish.
  11. Alkaptonuria (Black Urine Disease): A rare genetic disorder causing the accumulation of homogentisic acid in the body.
  12. Microcephaly: A rare neurological condition characterized by an abnormally small head and underdeveloped brain.
  13. Werewolf Syndrome (Hypertrichosis): A rare condition characterized by excessive hair growth over the body.
  14. Argyria (Blue Skin Syndrome): A rare condition causing skin to turn blue or gray due to exposure to silver compounds.
  15. Foreign Accent Syndrome: A rare speech disorder causing individuals to speak with an accent that is not their own.
  16. Moebius Syndrome: A rare neurological disorder affecting facial muscles, causing facial paralysis and limited eye movement.
  17. Epidermodysplasia Verruciformis (Tree Man Syndrome): A rare genetic disorder causing wart-like lesions and abnormal skin growths.
  18. Trichotillomania (Hair-Pulling Disorder): A rare mental health disorder characterized by compulsive hair pulling.
  19. Alice in Wonderland Syndrome: A rare neurological condition causing distorted perceptions of body size and shape.
  20. Fibrous Dysplasia: A rare bone disorder where fibrous tissue replaces normal bone, weakening the affected area.
  21. Capgras Syndrome: A rare psychiatric disorder where individuals believe that a loved one has been replaced by an imposter.
  22. Aicardi Syndrome: A rare genetic disorder characterized by the absence of the corpus callosum, seizures, and developmental delays.
  23. Berardinelli-Seip Congenital Lipodystrophy: A rare metabolic disorder characterized by the absence of body fat and metabolic complications.
  24. Cystinosis: A rare metabolic disorder where the amino acid cystine accumulates in cells, leading to organ damage.
  25. Evans Syndrome: A rare autoimmune disorder characterized by the destruction of red blood cells, platelets, and sometimes white blood cells.
  26. Hemophagocytic Lymphohistiocytosis (HLH): A rare immune system disorder characterized by the overactivation of immune cells, leading to organ damage.
  27. Idiopathic Intracranial Hypertension (IIH): A rare condition characterized by increased pressure within the skull, leading to symptoms like headaches and vision problems.
  28. Joubert Syndrome: A rare genetic disorder characterized by abnormal brain development, resulting in intellectual disability, movement disorders, and other symptoms.
  29. Kikuchi-Fujimoto Disease: A rare autoimmune disorder characterized by lymph node inflammation, fever, and fatigue.
  30. Lipoid Proteinosis: A rare genetic disorder characterized by skin and mucous membrane abnormalities, hoarse voice, and neurological symptoms.
  31. Maffucci Syndrome: A rare genetic disorder characterized by benign tumors of cartilage (enchondromas) and soft tissue, along with areas of abnormal skin pigmentation.
  32. Nakajo-Nishimura Syndrome: A rare autoinflammatory disorder characterized by periodic fever, lipodystrophy, joint contractures, and a distinctive skin rash.
  33. Ondine’s Curse (Congenital Central Hypoventilation Syndrome): A rare disorder characterized by abnormal control of breathing during sleep, leading to respiratory failure.
  34. Pantothenate Kinase-Associated Neurodegeneration (PKAN): A rare genetic disorder characterized by progressive neurodegeneration, movement disorders, and cognitive decline.
  35. Q Fever: A rare bacterial infection caused by Coxiella burnetii, leading to flu-like symptoms, pneumonia, and chronic fatigue.
  36. Russell-Silver Syndrome: A rare genetic disorder characterized by growth delays, distinctive facial features, and other physical abnormalities.
  37. Susac Syndrome: A rare autoimmune disorder characterized by inflammation and blockage of small blood vessels in the brain, retina, and inner ear, leading to neurological and sensory symptoms.
  38. Trisomy 18 (Edwards Syndrome): A rare chromosomal disorder characterized by multiple congenital abnormalities, developmental delays, and a high mortality rate.
  39. Urticarial Vasculitis: A rare form of vasculitis characterized by recurrent episodes of hives (urticaria) and inflammation of small blood vessels (vasculitis).
  40. Vanishing White Matter Disease: A rare genetic disorder characterized by progressive destruction of the brain’s white matter, leading to neurological deterioration and loss of motor function.
  41. Whipple’s Disease: A rare infectious disease caused by Tropheryma whipplei bacteria, leading to gastrointestinal symptoms, joint pain, and neurological problems.
  42. Xeroderma Pigmentosum: A rare genetic disorder characterized by extreme sensitivity to ultraviolet (UV) light, leading to sunburn, skin cancer, and eye problems.
  43. Yellow Nail Syndrome: A rare condition characterized by yellow, thickened nails, respiratory symptoms, and lymphedema.
  44. Zollinger-Ellison Syndrome: A rare disorder characterized by gastrin-secreting tumors in the pancreas or duodenum, leading to excessive gastric acid production and peptic ulcers.
  45. Aarskog-Scott Syndrome: A rare genetic disorder characterized by distinctive facial features, short stature, and skeletal abnormalities.
  46. Behçet’s Disease: A rare autoimmune disorder characterized by recurrent mouth ulcers, genital ulcers, and inflammation of the eyes and skin.
  47. Congenital Insensitivity to Pain with Anhidrosis (CIPA): A rare genetic disorder characterized by the inability to feel pain, temperature, or touch, along with the inability to sweat.
  48. Donohue Syndrome (Leprechaunism): A rare genetic disorder characterized by severe insulin resistance, leading to abnormal growth, facial features, and developmental delays.
  49. Ectodermal Dysplasia: A rare genetic disorder characterized by abnormalities in structures derived from the embryonic ectoderm, such as hair, teeth, nails, and sweat glands.
  50. Fanconi Anemia: A rare genetic disorder characterized by bone marrow failure, developmental abnormalities, and an increased risk of cancer.
  51. Griscelli Syndrome: A rare genetic disorder characterized by pigmentary dilution of the skin and hair, along with immunodeficiency and neurological abnormalities.
  52. Holt-Oram Syndrome: A rare genetic disorder characterized by heart defects and abnormalities of the upper limbs.
  53. Inclusion Body Myositis: A rare inflammatory muscle disease characterized by progressive muscle weakness and atrophy.
  54. Jansen’s Metaphyseal Chondrodysplasia: A rare genetic disorder characterized by abnormal bone development, short stature, and skeletal abnormalities.
  55. Kearns-Sayre Syndrome: A rare mitochondrial disorder characterized by progressive weakness of the eye muscles, heart conduction defects, and other neurological symptoms.
  56. Lipodystrophy Syndromes: A group of rare disorders characterized by abnormal distribution of body fat, metabolic abnormalities, and other complications.
  57. Menkes Disease: A rare genetic disorder characterized by impaired copper absorption, leading to developmental delays, neurological abnormalities, and distinctive physical features.
  58. Nephrogenic Systemic Fibrosis (NSF): A rare condition characterized by fibrosis of the skin and internal organs, usually associated with exposure to gadolinium-based contrast agents used in MRI scans.
  59. Osteogenesis Imperfecta: A rare genetic disorder characterized by brittle bones that are prone to fractures, along with other skeletal abnormalities.
  60. Pseudoxanthoma Elasticum: A rare genetic disorder characterized by abnormal mineralization of elastic fibers in the skin, eyes, and blood vessels.
  61. Rett Syndrome: A rare genetic disorder characterized by developmental regression, loss of motor skills, seizures, and distinctive hand movements.
  62. Shprintzen-Goldberg Syndrome: A rare genetic disorder characterized by craniofacial abnormalities, skeletal abnormalities, and other physical and developmental features.
  63. Tuberous Sclerosis Complex (TSC): A rare genetic disorder characterized by the growth of noncancerous tumors in multiple organs, including the brain, skin, kidneys, and heart.
  64. Uncombable Hair Syndrome: A rare genetic disorder characterized by dry, frizzy hair that is difficult to comb or style.
  65. Von Hippel-Lindau Disease: A rare genetic disorder characterized by the formation of tumors and cysts in multiple organs, particularly the brain, spinal cord, kidneys, and adrenal glands.
  66. Williams Syndrome: A rare genetic disorder characterized by cardiovascular abnormalities, distinctive facial features, developmental delays, and a friendly personality.
  67. X-linked Agammaglobulinemia: A rare genetic disorder characterized by a deficiency of B cells and immunoglobulins, leading to recurrent bacterial infections.
  68. Young Syndrome: A rare condition characterized by chronic sinusitis, bronchiectasis, and infertility in males.
  69. Abetalipoproteinemia: A rare genetic disorder characterized by the inability to absorb dietary fats and fat-soluble vitamins, leading to neurological and visual problems.
  70. Basal Cell Nevus Syndrome (Gorlin Syndrome): A rare genetic disorder characterized by the development of multiple basal cell carcinomas and other tumors.
  71. Cockayne Syndrome: A rare genetic disorder characterized by growth failure, neurological abnormalities, premature aging, and photosensitivity.
  72. Dubowitz Syndrome: A rare genetic disorder characterized by growth delays, facial abnormalities, and intellectual disability.
  73. Ectopia Cordis: A rare congenital condition characterized by the heart being located outside the chest cavity.
  74. Floating Harbor Syndrome: A rare genetic disorder characterized by short stature, delayed bone age, speech delays, and distinctive facial features.
  75. Greig Cephalopolysyndactyly Syndrome: A rare genetic disorder characterized by abnormal skull and facial features, extra fingers or toes, and intellectual disability.
  76. Hypophosphatasia: A rare genetic disorder characterized by defective mineralization of bones and teeth, leading to skeletal abnormalities and dental problems.
  77. Juvenile Polyposis Syndrome: A rare genetic disorder characterized by the development of multiple polyps in the gastrointestinal tract, leading to an increased risk of cancer.
  78. Klippel-Trenaunay Syndrome: A rare congenital condition characterized by abnormal development of blood vessels, soft tissue overgrowth, and bone and joint abnormalities.
  79. Lennox-Gastaut Syndrome: A rare form of epilepsy characterized by multiple seizure types, developmental delays, and cognitive impairment.
  80. Marshall Syndrome: A rare genetic disorder characterized by distinctive facial features, hearing loss, and skeletal abnormalities.
  81. Nephronophthisis: A rare genetic disorder characterized by the progressive destruction of kidney tubules, leading to kidney failure.
  82. Opitz G/BBB Syndrome: A rare genetic disorder characterized by midline defects, including cleft lip and palate, heart defects, and intellectual disability.
  83. Phelan-McDermid Syndrome: A rare genetic disorder characterized by developmental delays, intellectual disability, speech deficits, and distinctive facial features.
  84. Rhabdoid Tumor Predisposition Syndrome: A rare genetic disorder characterized by an increased risk of developing aggressive tumors, particularly rhabdoid tumors.
  85. Schinzel-Giedion Syndrome: A rare genetic disorder characterized by distinctive facial features, developmental delays, seizures, and skeletal abnormalities.
  86. Trisomy 13 (Patau Syndrome): A rare chromosomal disorder characterized by multiple congenital abnormalities, intellectual disability, and a high mortality rate.
  87. Ulnar-Mammary Syndrome: A rare genetic disorder characterized by abnormalities of the ulnar bone, mammary glands, teeth, and reproductive system.
  88. VACTERL Association: A rare condition characterized by multiple congenital abnormalities, including vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities.
  89. Wolfram Syndrome: A rare genetic disorder characterized by diabetes mellitus, optic atrophy, deafness, and neurological abnormalities.
  90. X-linked Hypohidrotic Ectodermal Dysplasia: A rare genetic disorder characterized by abnormalities of the skin, hair, teeth, and sweat glands due to a deficiency of sweat glands.
  91. Alagille Syndrome: A rare genetic disorder characterized by liver abnormalities, heart defects, distinctive facial features, and other physical and developmental abnormalities.
  92. Amyloidosis: A rare disorder characterized by the accumulation of abnormal protein deposits (amyloid) in tissues and organs, leading to organ dysfunction and failure.
  93. Bartter Syndrome: A rare genetic disorder characterized by electrolyte imbalances, renal salt wasting, and metabolic alkalosis.
  94. Chronic Recurrent Multifocal Osteomyelitis (CRMO): A rare inflammatory bone disorder characterized by recurrent episodes of bone pain and inflammation in multiple sites.
  95. Dysautonomia: A rare disorder affecting the autonomic nervous system, leading to dysfunction in regulating bodily functions such as heart rate, blood pressure, digestion, and temperature.
  96. Eosinophilic Granulomatosis with Polyangiitis (Churg-Strauss Syndrome): A rare autoimmune disorder characterized by inflammation of small and medium-sized blood vessels, leading to organ damage.
  97. Fibrosing Mediastinitis: A rare condition characterized by the abnormal growth of fibrous tissue in the mediastinum, leading to compression of nearby structures.
  98. Glutaric Acidemia Type 1: A rare metabolic disorder characterized by the deficiency of an enzyme involved in the breakdown of certain amino acids, leading to neurological damage.
  99. Hemimegalencephaly: A rare neurological disorder characterized by abnormal brain development, leading to seizures, developmental delays, and other neurological symptoms.
  100. I-cell Disease (Mucolipidosis II): A rare lysosomal storage disorder characterized by the accumulation of glycoproteins in cells, leading to skeletal abnormalities, facial features, and developmental delays.
  101. Jansen’s Metaphyseal Chondrodysplasia: A rare genetic disorder characterized by abnormal bone development, short stature, and skeletal abnormalities.
  102. Kearns-Sayre Syndrome: A rare mitochondrial disorder characterized by progressive weakness of the eye muscles, heart conduction defects, and other neurological symptoms.
  103. Langerhans Cell Histiocytosis: A rare disorder characterized by the abnormal proliferation of Langerhans cells, leading to the formation of tumors or lesions in various organs.
  104. Marshall Syndrome: A rare genetic disorder characterized by distinctive facial features, hearing loss, and skeletal abnormalities.
  105. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome): A rare genetic disorder characterized by the development of multiple basal cell carcinomas and other tumors.
  106. Opsismodysplasia: A rare genetic disorder characterized by short stature, facial abnormalities, and skeletal abnormalities.
  107. Pfeiffer Syndrome: A rare genetic disorder characterized by craniosynostosis, distinctive facial features, and abnormalities of the hands and feet.
  108. Q Fever: A rare bacterial infection caused by Coxiella burnetii, leading to flu-like symptoms, pneumonia, and chronic fatigue.
  109. Rothmund-Thomson Syndrome: A rare genetic disorder characterized by skin abnormalities, skeletal abnormalities, and an increased risk of cancer.
  110. Smith-Lemli-Opitz Syndrome: A rare genetic disorder characterized by developmental delays, distinctive facial features, and multiple congenital abnormalities.
  111. Takayasu’s Arteritis: A rare autoimmune disorder characterized by inflammation of the large blood vessels, leading to narrowing or blockage of the arteries.
  112. Urticarial Vasculitis: A rare form of vasculitis characterized by recurrent episodes of hives (urticaria) and inflammation of small blood vessels (vasculitis).
  113. Vanishing White Matter Disease: A rare genetic disorder characterized by progressive destruction of the brain’s white matter, leading to neurological deterioration and loss of motor function.
  114. Williams Syndrome: A rare genetic disorder characterized by cardiovascular abnormalities, distinctive facial features, developmental delays, and a friendly personality.
  115. X-linked Agammaglobulinemia: A rare genetic disorder characterized by a deficiency of B cells and immunoglobulins, leading to recurrent bacterial infections.
  116. Young Syndrome: A rare condition characterized by chronic sinusitis, bronchiectasis, and infertility in males.
  117. Zollinger-Ellison Syndrome: A rare disorder characterized by gastrin-secreting tumors in the pancreas or duodenum, leading to excessive gastric acid production and peptic ulcers.
  118. Aarskog-Scott Syndrome: A rare genetic disorder characterized by distinctive facial features, short stature, and skeletal abnormalities.
  119. Behçet’s Disease: A rare autoimmune disorder characterized by recurrent mouth ulcers, genital ulcers, and inflammation of the eyes and skin.
  120. Congenital Insensitivity to Pain with Anhidrosis (CIPA): A rare genetic disorder characterized by the inability to feel pain, temperature, or touch, along with the inability to sweat.
  121. Donohue Syndrome (Leprechaunism): A rare genetic disorder characterized by severe insulin resistance, leading to abnormal growth, facial features, and developmental delays.
  122. Ectodermal Dysplasia: A rare genetic disorder characterized by abnormalities in structures derived from the embryonic ectoderm, such as hair, teeth, nails, and sweat glands.
  123. Fanconi Anemia: A rare genetic disorder characterized by bone marrow failure, developmental abnormalities, and an increased risk of cancer.
  124. Griscelli Syndrome: A rare genetic disorder characterized by pigmentary dilution of the skin and hair, along with immunodeficiency and neurological abnormalities.
  125. Holt-Oram Syndrome: A rare genetic disorder characterized by heart defects and abnormalities of the upper limbs.
  126. Inclusion Body Myositis: A rare inflammatory muscle disease characterized by progressive muscle weakness and atrophy.
  127. Jansen’s Metaphyseal Chondrodysplasia: A rare genetic disorder characterized by abnormal bone development, short stature, and skeletal abnormalities.
  128. Kearns-Sayre Syndrome: A rare mitochondrial disorder characterized by progressive weakness of the eye muscles, heart conduction defects, and other neurological symptoms.
  129. Lipoid Proteinosis: A rare genetic disorder characterized by skin and mucous membrane abnormalities, hoarse voice, and neurological symptoms.
  130. Marshall Syndrome: A rare genetic disorder characterized by distinctive facial features, hearing loss, and skeletal abnormalities.
  131. Nakajo-Nishimura Syndrome: A rare autoinflammatory disorder characterized by periodic fever, lipodystrophy, joint contractures, and a distinctive skin rash.
  132. Opitz G/BBB Syndrome: A rare genetic disorder characterized by midline defects, including cleft lip and palate, heart defects, and intellectual disability.
  133. Phelan-McDermid Syndrome: A rare genetic disorder characterized by developmental delays, intellectual disability, speech deficits, and distinctive facial features.
  134. Q Fever: A rare bacterial infection caused by Coxiella burnetii, leading to flu-like symptoms, pneumonia, and chronic fatigue.
  135. Rothmund-Thomson Syndrome: A rare genetic disorder characterized by skin abnormalities, skeletal abnormalities, and an increased risk of cancer.
  136. Susac Syndrome: A rare autoimmune disorder characterized by inflammation and blockage of small blood vessels in the brain, retina, and inner ear, leading to neurological and sensory symptoms.
  137. Trisomy 13 (Patau Syndrome): A rare chromosomal disorder characterized by multiple congenital abnormalities, intellectual disability, and a high mortality rate.
  138. Ulnar-Mammary Syndrome: A rare genetic disorder characterized by abnormalities of the ulnar bone, mammary glands, teeth, and reproductive system.
  139. VACTERL Association: A rare condition characterized by multiple congenital abnormalities, including vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities.
  140. Wolfram Syndrome: A rare genetic disorder characterized by diabetes mellitus, optic atrophy, deafness, and neurological abnormalities.
  141. X-linked Hypohidrotic Ectodermal Dysplasia: A rare genetic disorder characterized by abnormalities of the skin, hair, teeth, and sweat glands due to a deficiency of sweat glands.
  142. Young Syndrome: A rare condition characterized by chronic sinusitis, bronchiectasis, and infertility in males.
  143. Zollinger-Ellison Syndrome: A rare disorder characterized by gastrin-secreting tumors in the pancreas or duodenum, leading to excessive gastric acid production and peptic ulcers.
  144. Aarskog-Scott Syndrome: A rare genetic disorder characterized by distinctive facial features, short stature, and skeletal abnormalities.
  145. Behçet’s Disease: A rare autoimmune disorder characterized by recurrent mouth ulcers, genital ulcers, and inflammation of the eyes and skin.
  146. Congenital Insensitivity to Pain with Anhidrosis (CIPA): A rare genetic disorder characterized by the inability to feel pain, temperature, or touch, along with the inability to sweat.
  147. Donohue Syndrome (Leprechaunism): A rare genetic disorder characterized by severe insulin resistance, leading to abnormal growth, facial features, and developmental delays.
  148. Ectodermal Dysplasia: A rare genetic disorder characterized by abnormalities in structures derived from the embryonic ectoderm, such as hair, teeth, nails, and sweat glands.
  149. Fanconi Anemia: A rare genetic disorder characterized by bone marrow failure, developmental abnormalities, and an increased risk of cancer.
  150. Griscelli Syndrome: A rare genetic disorder characterized by pigmentary dilution of the skin and hair, along with immunodeficiency and neurological abnormalities.
  151. Holt-Oram Syndrome: A rare genetic disorder characterized by heart defects and abnormalities of the upper limbs.
  152. Inclusion Body Myositis: A rare inflammatory muscle disease characterized by progressive muscle weakness and atrophy.
  153. Jansen’s Metaphyseal Chondrodysplasia: A rare genetic disorder characterized by abnormal bone development, short stature, and skeletal abnormalities.
  154. Kearns-Sayre Syndrome: A rare mitochondrial disorder characterized by progressive weakness of the eye muscles, heart conduction defects, and other neurological symptoms.
  155. Lipoid Proteinosis: A rare genetic disorder characterized by skin and mucous membrane abnormalities, hoarse voice, and neurological symptoms.
  156. Marshall Syndrome: A rare genetic disorder characterized by distinctive facial features, hearing loss, and skeletal abnormalities.
  157. Nakajo-Nishimura Syndrome: A rare autoinflammatory disorder characterized by periodic fever, lipodystrophy, joint contractures, and a distinctive skin rash.
  158. Opitz G/BBB Syndrome: A rare genetic disorder characterized by midline defects, including cleft lip and palate, heart defects, and intellectual disability.
  159. Phelan-McDermid Syndrome: A rare genetic disorder characterized by developmental delays, intellectual disability, speech deficits, and distinctive facial features.
  160. Q Fever: A rare bacterial infection caused by Coxiella burnetii, leading to flu-like symptoms, pneumonia, and chronic fatigue.
  161. Rothmund-Thomson Syndrome: A rare genetic disorder characterized by skin abnormalities, skeletal abnormalities, and an increased risk of cancer.
  162. Susac Syndrome: A rare autoimmune disorder characterized by inflammation and blockage of small blood vessels in the brain, retina, and inner ear, leading to neurological and sensory symptoms.
  163. Trisomy 13 (Patau Syndrome): A rare chromosomal disorder characterized by multiple congenital abnormalities, intellectual disability, and a high mortality rate.
  164. Ulnar-Mammary Syndrome: A rare genetic disorder characterized by abnormalities of the ulnar bone, mammary glands, teeth, and reproductive system.
  165. VACTERL Association: A rare condition characterized by multiple congenital abnormalities, including vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities.
  166. Wolfram Syndrome: A rare genetic disorder characterized by diabetes mellitus, optic atrophy, deafness, and neurological abnormalities.
  167. X-linked Hypohidrotic Ectodermal Dysplasia: A rare genetic disorder characterized by abnormalities of the skin, hair, teeth, and sweat glands due to a deficiency of sweat glands.
  168. Young Syndrome: A rare condition characterized by chronic sinusitis, bronchiectasis, and infertility in males.
  169. Zollinger-Ellison Syndrome: A rare disorder characterized by gastrin-secreting tumors in the pancreas or duodenum, leading to excessive gastric acid production and peptic ulcers.
  170. Aarskog-Scott Syndrome: A rare genetic disorder characterized by distinctive facial features, short stature, and skeletal abnormalities.
  171. Behçet’s Disease: A rare autoimmune disorder characterized by recurrent mouth ulcers, genital ulcers, and inflammation of the eyes and skin.
  172. Congenital Insensitivity to Pain with Anhidrosis (CIPA): A rare genetic disorder characterized by the inability to feel pain, temperature, or touch, along with the inability to sweat.
  173. Donohue Syndrome (Leprechaunism): A rare genetic disorder characterized by severe insulin resistance, leading to abnormal growth, facial features, and developmental delays.
  174. Ectodermal Dysplasia: A rare genetic disorder characterized by abnormalities in structures derived from the embryonic ectoderm, such as hair, teeth, nails, and sweat glands.
  175. Fanconi Anemia: A rare genetic disorder characterized by bone marrow failure, developmental abnormalities, and an increased risk of cancer.
  176. Griscelli Syndrome: A rare genetic disorder characterized by pigmentary dilution of the skin and hair, along with immunodeficiency and neurological abnormalities.
  177. Holt-Oram Syndrome: A rare genetic disorder characterized by heart defects and abnormalities of the upper limbs.
  178. Inclusion Body Myositis: A rare inflammatory muscle disease characterized by progressive muscle weakness and atrophy.
  179. Jansen’s Metaphyseal Chondrodysplasia: A rare genetic disorder characterized by abnormal bone development, short stature, and skeletal abnormalities.
  180. Kearns-Sayre Syndrome: A rare mitochondrial disorder characterized by progressive weakness of the eye muscles, heart conduction defects, and other neurological symptoms.
  181. Lipoid Proteinosis: A rare genetic disorder characterized by skin and mucous membrane abnormalities, hoarse voice, and neurological symptoms.
  182. Marshall Syndrome: A rare genetic disorder characterized by distinctive facial features, hearing loss, and skeletal abnormalities.
  183. Nakajo-Nishimura Syndrome: A rare autoinflammatory disorder characterized by periodic fever, lipodystrophy, joint contractures, and a distinctive skin rash.
  184. Opitz G/BBB Syndrome: A rare genetic disorder characterized by midline defects, including cleft lip and palate, heart defects, and intellectual disability.
  185. Phelan-McDermid Syndrome: A rare genetic disorder characterized by developmental delays, intellectual disability, speech deficits, and distinctive facial features.
  186. Q Fever: A rare bacterial infection caused by Coxiella burnetii, leading to flu-like symptoms, pneumonia, and chronic fatigue.
  187. Rothmund-Thomson Syndrome: A rare genetic disorder characterized by skin abnormalities, skeletal abnormalities, and an increased risk of cancer.
  188. Susac Syndrome: A rare autoimmune disorder characterized by inflammation and blockage of small blood vessels in the brain, retina, and inner ear, leading to neurological and sensory symptoms.
  189. Trisomy 13 (Patau Syndrome): A rare chromosomal disorder characterized by multiple congenital abnormalities, intellectual disability, and a high mortality rate.
  190. Ulnar-Mammary Syndrome: A rare genetic disorder characterized by abnormalities of the ulnar bone, mammary glands, teeth, and reproductive system.
  191. VACTERL Association: A rare condition characterized by multiple congenital abnormalities, including vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities.
  192. Wolfram Syndrome: A rare genetic disorder characterized by diabetes mellitus, optic atrophy, deafness, and neurological abnormalities.
  193. X-linked Hypohidrotic Ectodermal Dysplasia: A rare genetic disorder characterized by abnormalities of the skin, hair, teeth, and sweat glands due to a deficiency of sweat glands.
  194. Young Syndrome: A rare condition characterized by chronic sinusitis, bronchiectasis, and infertility in males.
  195. Zollinger-Ellison Syndrome: A rare disorder characterized by gastrin-secreting tumors in the pancreas or duodenum, leading to excessive gastric acid production and peptic ulcers.
  196. Aarskog-Scott Syndrome: A rare genetic disorder characterized by distinctive facial features, short stature, and skeletal abnormalities.
  197. Behçet’s Disease: A rare autoimmune disorder characterized by recurrent mouth ulcers, genital ulcers, and inflammation of the eyes and skin.
  198. Congenital Insensitivity to Pain with Anhidrosis (CIPA): A rare genetic disorder characterized by the inability to feel pain, temperature, or touch, along with the inability to sweat.
  199. Donohue Syndrome (Leprechaunism): A rare genetic disorder characterized by severe insulin resistance, leading to abnormal growth, facial features, and developmental delays.
  200. Ectodermal Dysplasia: A rare genetic disorder characterized by abnormalities in structures derived from the embryonic ectoderm, such as hair, teeth, nails, and sweat glands.