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Genetic & Rare Conditions
282 conditions, treatments and tests in Genetic & Rare Conditions — clear answers from Acibadem Health Point.
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- Acute Chest Syndrome
- Agenesis of the Corpus Callosum (ACC)
- Aicardi Syndrome
- Alagille Syndrome
- ALD (Adrenoleukodystrophy)
- Alpha-gal Syndrome
- Alport Syndrome
- Amniotic Band Syndrome
- Androgen Insensitivity Syndrome
- Angelman Syndrome
- Antisynthetase Syndrome
- Apert Syndrome
- Ashermans Syndrome
- Atypical Hemolytic Uremic Syndrome
- Axenfeld-Rieger Syndrome
- Balint Syndrome
- Bannayan-Riley-Ruvalcaba Syndrome (BRRS)
- Barber Say Syndrome
- Barth Syndrome
- Becker Muscular Dystrophy (BMD)
- Beckwith-Wiedemann Syndrome
- Benign Fasciculation Syndrome
- Bernard-Soulier Syndrome
- Binder Syndrome
- Blau Syndrome
- Blepharophimosis Syndrome
- Bloom Syndrome
- Boerhaaves Syndrome
- Brachydactyly
- Brooke-Spiegler Syndrome
- Brown Syndrome
- Brown-Sequard Syndrome
- Brugada Syndrome
- Budd-Chiari Syndrome
- Burning Feet Syndrome
- Cachexia (Wasting Syndrome)
- Café-au-Lait Spots
- Cannabis Hyperemesis Syndrome (CHS)
- Capgras Syndrome
- Capillary Leak Syndrome
- Carpenter Syndrome
- Cauda Equina Syndrome
- Caudal Regression Syndrome
- Cavernous Malformation (Cavernoma)
- Central Cord Syndrome (CCS)
- Central Pain Syndrome
- CHARGE Syndrome
- Charles Bonnet Syndrome
- Chiari Malformation
- Choroideremia
- Christianson Syndrome
- Cloacal Malformations
- Familial Dysautonomia
- Fanconi Syndrome
- Felty Syndrome
- Fetal Alcohol Syndrome
- Fibrodysplasia Ossificans Progressiva
- Fibromuscular Dysplasia (FMD)
- Fibrous Dysplasia
- First Bite Syndrome
- Fitz-Hugh-Curtis Syndrome
- Foreign Accent Syndrome
- Fragile X Syndrome (FXS)
- Fregoli Syndrome
- Freys Syndrome
- FSHD (Facioscapulohumeral Muscular Dystrophy)
- Fuchs Dystrophy
- Hand-Foot Syndrome
- Harlequin Syndrome
- Heel Fat Pad Syndrome
- HELLP Syndrome
- Hemolytic Uremic Syndrome
- Hereditary Hemorrhagic Telangiectasia (HHT)
- Hereditary Spastic Paraplegia
- Hereditary Spherocytosis
- Heterotaxy Syndrome
- Hitchhikers Thumb
- Holt-Oram Syndrome
- Homozygous
- Horner Syndrome
- Hunter Syndrome
- Hurler Syndrome
- Hyperventilation Syndrome
- Hyperviscosity Syndrome
- Lamb-Shaffer Syndrome (LAMSHF)
- Lambert-Eaton Myasthenic Syndrome (LEMS)
- Landau-Kleffner Syndrome (LKS)
- Leaky Gut Syndrome
- Lebers Congenital Amaurosis
- Leigh Syndrome (Leighs Disease)
- Lennox-Gastaut Syndrome (LGS)
- Lesch-Nyhan Syndrome
- Leukodystrophy
- Li-Fraumeni Syndrome
- Limb-Girdle Muscular Dystrophy (LGMD)
- Lipodystrophy
- Locked-in Syndrome (LiS)
- Loeys-Dietz Syndrome
- Long QT Syndrome (LQTS)
- Lynch Syndrome and HNPCC
- Maffucci Syndrome
- Mal de Débarquement Syndrome (MdDS)
- Marfan Syndrome
- May-Thurner Syndrome
- Mayer-Rokitansky-Küster-Hauser Syndrome
- McArdle Disease (GSD5)
- McCune-Albright Syndrome
- Meconium Aspiration Syndrome
- Meige Syndrome
- MELAS Syndrome
- Melkersson-Rosenthal Syndrome (MRS)
- Metachromatic Leukodystrophy
- Miller Fisher Syndrome
- Miller-Dieker Syndrome
- Mirizzi Syndrome
- Moebius Syndrome
- Morning Glory Syndrome
- Morquio Syndrome
- Muir Torre Syndrome
- Multiple Organ Dysfunction Syndrome
- Multisystem Inflammatory Syndrome in Children (MIS-C)
- Munchausen Syndrome (Factitious disorder imposed on self)
- Muscular Dystrophy
- Myelodysplastic Syndrome (Myelodysplasia)
- Myofascial Pain Syndrome
- Myotonia
- Myotonia Congenita
- Myotonic Dystrophy
- PANDAS Syndrome
- Paraneoplastic Syndromes
- Parsonage-Turner Syndrome
- Pendred Syndrome
- Peutz-Jeghers Syndrome
- Pfeiffer Syndrome
- PHACE Syndrome
- Phelan-McDermid Syndrome
- Pierre Robin Syndrome (Pierre Robin Sequence)
- Piriformis Syndrome
- Pitt-Hopkins Syndrome (PTHS)
- Plagiocephaly (Flat Head Syndrome)
- Plica Syndrome
- POEMS Syndrome
- Post-Intensive Care Syndrome (PICS)
- Post-Polio Syndrome
- Potter Syndrome
- Prader-Willi Syndrome
- Precordial Catch Syndrome
- Primary Aldosteronism (Conns Syndrome)
- Proteus Syndrome
- Prothrombin Gene Mutation
- Prune Belly Syndrome
- Psoas Syndrome
- PURA Syndrome
- Sandifer Syndrome
- Sanfilippo Syndrome
- Scimitar Syndrome
- Serotonin Syndrome
- Sézary Syndrome
- Shaken Baby Syndrome
- Sheehan Syndrome
- Short Q-T Syndrome (SQTS)
- Short Sleeper Syndrome (SSS)
- Shprintzen-Goldberg Syndrome
- Shwachman-Diamond syndrome (SDS)
- SIDS (Sudden Infant Death Syndrome)
- Sinding-Larsen-Johansson Syndrome
- SIRS (Systemic Inflammatory Response Syndrome)
- Sjögrens Syndrome
- Skeeter Syndrome
- Smith-Magenis Syndrome
- Sneddon Syndrome
- Somatic Germline Mutations
- Sotos Syndrome
- Stevens-Johnson Syndrome
- Stickler Syndrome
- Stiff Person Syndrome
- Stockholm Syndrome
- Stokes-Adams Syndrome
- Sturge-Weber Syndrome
- Subclavian Steal Syndrome
- Sudden Arrhythmic Death Syndrome
- Sundown Syndrome
- Superior Vena Cava Syndrome
- Susac Syndrome
- Sweet Syndrome
- Swyer Syndrome (XY Gonadal Dysgenesis)
- Tarsal Tunnel Syndrome
- Thanatophoric Dysplasia
- Thoracic Outlet Syndrome
- Tietze Syndrome
- Timothy Syndrome
- Tolosa-Hunt Syndrome
- Tourette Syndrome
- Toxic Shock Syndrome
- Treacher Collins Syndrome
- Trimethylaminuria (Fish Odor Syndrome)
- Triple X Syndrome
- Trisomy
- Trisomy 13 (Patau Syndrome)
- Turcot Syndrome
- Turner Syndrome
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