HOME
S
Saal Bulas Syndrome (Ectrodactyly with Diaphragmatic Hernia and Corpus Callosum Agenesis)
Sabinas Brittle Hair Syndrome (Brittle Hair Mental Deficit)
Sackey Sakati Aur Syndrome (Pancytopenia with Multiple Congenital Anomalies)
Sacral Agenesis
Saethre Chotzen Syndrome
Sagittal Synostosis (Craniostenosis, Craniosynostosis, Dolicocephaly, Scaphocephaly, Sagittal Craniostenosis, Sagittal Craniosynostosis)
Sakati Nyhan Syndrome
Salamon Syndrome (Woolly Hair with Hypotrichosis, Everted Lower Lip and Outstanding Ears)
Saldino Noonan McCreanor Syndrome
Sammartino Decreccio Syndrome (Corneal Dystrophy Ichthyosis Microcephaly Mental Retardation)
Sandhoff Disease (Type I is from birth, but some of these links include info on Type II and/or Adult Onset as well)
Sanfilippo Disease/Syndrome (Mucopolysaccharidosis, Type III)
Sanjad Sakati Syndrome
Santavuori Haltia Disease
Sarcosinemia (Deficiency of Sarcosine Dehydrogenase Complex, Hypersarcosinemia, Sard Deficiency)
Say Barber Hobbs Syndrome (Cleft Palate, Large Ears, Small Head)
SC Phocomelia Syndrome
Scalp Defects and Postaxial Polydactyly
Scaphocephaly
Scapuloilioperoneal Atrophy with Cardiopathy
Schaefer Stein Oshman Syndrome
Schereshevkii Turner Syndrome
Scheie Syndrome
Schimmelpenning Feuerstein Mims Syndrome (Organoid Nevus Phakomatosis)
Schinzel Acrocallosal Syndrome
Schinzel Phocomelia Syndrome
Schinzel Syndrome (Ulnar-Mammary Syndrome [of Pallister], Pallister Syndrome)
Schizencephaly
Schrander Stumpel Theunissen Hulsmans Syndrome (Vitiligo Psychomotor Retardation Cleft Palate Facial Dysmorphism)
Schweitzer Kemink Malcolm Syndrome (Conductive Deafness Micrognathia)
Sclerocornea
Scleroderma
Sclerosteosis (Cortical Hyperostosis with Syndactyly)
Scott Bryant Graham Syndrome (Craniodigital Syndrome with Mental Retardation)
Sebaceus Nevus Syndrome
Seckel Type Dwarfism
Secondary Adhalin Deficiency
Segawa Syndrome
Seizures
Senior Syndrome
Sensenbrenner Syndrome
Sensory and Autonomic Neuropathy
Sensory Radicular Neuropathy
Septo Optic Dysplasia (Optic-Nerve Hypoplasia)
Seres Santamaria Arimany Muniz Syndrome
Serpentine Fibula-Polycystic Kidney Syndrome
Severe Combined Immunodeficiency Disease (SCID)
Shimpo('s) Syndrome
Schinzel Syndrome
Shokeir Syndrome (Alopecia Epilepsy Pyorrhea Mental Subnormality)
Short-Bowel Syndrome
Short Rib-Polydactyly Syndrome (Polydactyly with Neonatal Chondrodystrophy; Short Rib-Polydactyly Syndrome, Majewski Type; Short Rib-Polydactyly Syndrome, Saldino-Noonan Type; Short Rib-Polydactyly Syndrome, Verma-Naumoff Type; Saldino-Noonan-McCreanor Syndrome)
Shprintzen (VCF) Syndrome
Shwachman-Diamond Syndrome
Sialidosis (Angiokeratoma Corporis Diffusum)
Sicca Syndrome
Sick Sinus Syndrome
Sickle Cell Anemia/Disease
Sideroblastic Anemia
Sidransky Feinstein Goodman Syndrome
Siemens Syndrome (Keratosis Follicularis with Spinula Decalvans)
Siemerling-Creutzfeldt syndrome
Silengo Lerone Pelizzo Syndrome
Sillence Syndrome (Brachydactyly-Symphalangism Syndrome)
Silver (Russell) Syndrome
Silvery Hair Syndrome
Simosa Penchaszadeh Bustos Syndrome (Blepharophimosis Telecanthus Microstomia, Flat Face Microstomia Ear Anomaly)
Simpson Golabi Behmel Syndrome
Type 1 (Bulldog Syndrome; Dysplasia Gigantism Syndrome, X-Linked; Golabi-Rosen Syndrome; Simpson Dysmorphia Syndrome)
Single Ventricle
Sinus Node Disease
Sinus Rhythm, Congenital Absence of
Sinusitis-Infertility Syndrome
Sirenomelia (Mermaid Malformation)
Situs Inversus
Sjogren Syndrome (Sicca Syndrome)
Sjogren-Larsson Syndrome (Ichthyosis, Spastic Neurologic Disorder, and Oligophrenia; Fatty Alcohol:NAD+ Oxidoreductase (FAO) Deficiency; Fatty Aldehyde Dehydrogenase (FALDH) Deficiency)
Sjogren-Larsson-Like Syndrome
Without CNS or Eye Involvement
Skeletal Dysplasia
Weismann Netter Stuhl Type
Slavotinek Hurst Syndrome (Cataract Skeletal Anomalies)
Sly Syndrome (Beta-Glucuronidase Deficiency, Mucopolysaccharidosis Type VII)
Smith Lemli Opitz (SLO) Syndrome
Smith Magenis Syndrome
Smith-McCort Dwarfism
Snyder Robinson Syndrome (X-Linked Mental Retardation, Snyder Robinson Type)
S oluble O xidase C omponent II [SOC2 ], Deficiency of
Sommer Rathbun Battles Syndrome (Aniridia Renal Agenesis Psychomotor Retardation)
Sommer Young-Wee Frye Syndrome (Craniofacial Deafness Hand Syndrome)
Sondheimer Syndrome (Coarse Face Hypotonia Constipation)
Sorsby Disease
Sosby Syndrome (Coloboma of Macula with Type B Brachydactyly)
Soto('s) Syndrome (Cerebral Gigantism)
Souques Charcot Syndrome
Spastic Paraplegia
Hereditary
-Pigmentary Abnormalities
Spastic Paraperisis
Spellacy Gibbs Watts Syndrome
Spherocytosis
Spherophakia Brachymorphia Syndrome
Sphingomyelinosis
Spielmeyer Vogt Disease
Spina Bifida
Spinal Muscular Atrophy
Spinocerebellar Ataxia
Splenic Agenesis Syndrome
Split Hand Split Foot Mandibular Hypoplasia
Spondyloarthritis
Spondylocostal Dysplasia/Dysostosis
Spondyloendochromatosis
Spondyloepiphyseal Dysplasia/Dystosis
List of Sites
with Atlantoaxial Instability
with Myopia and Sensorineural Deafness
with Punctate Corneal Dystrophy
with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation
Spondylohumerofemoral Hypoplasia
Spondylometaphyseal Dysplasia
Sprengel('s) Deformity (High Scapula)
Spunglass Hair
Stanescu Maroteaux Syndrome
Stargardt('s) Disease
(Familial) Startle Disease
Steinert Disease
Stelencephaly Syndrome
Sterility
Due to Immotile Flagella
Due to Y Chromosome Deletions
Stern Lubinsky Durrie Syndrome (Corneodermatoosseous [CDO] Syndrome)
Stickler Syndrome (Arthroophtalmopathy Hereditary Progressive)
Stiff Baby Syndrome (Hyperekplexia, Kok Disease, [Familial] Startle Disease)
Stiff Man Syndrome
Stilling-Turk-Duane Syndrome
Stoll Alembik Finck Syndrome (Arthrogryposis Ectodermal Dysplasia Other Anomalies)
Stoll Kieny Dott Syndrome (Ventricular Extrasystoles Perodactyly Robin Sequence)
Strabismus
Stratton Garcia Young Syndrome (Brachydactyly with Mesomelia, Mental Retardation, and Heart Defects)
Streeter Anomaly
Striopallidodentate (SPD) Calcinosis
Strudwick Syndrome (Dappled Metaphysis Syndrome; Spondyloepimetaphyseal Dysplasia, Strudwick Type)
Sturge Weber (Dimitri) Syndrome (Encephalo-Facial Angiomatosis)
Subglottic Stenosis
Sudden Infant Death Syndrome (SIDS)
Sujansky Leonard Syndrome (VACTERL Association with Hydrocephalus)
Sulfatase Deficiency
Sulfatide Lipidosis
Sulfite Oxidase Deficiency
Summitt Symdrome
Suprabulbar Paresis
Susceptibility to Infectious Mononucleosis
Sutherland Haan X-Linked Mental Retardation Syndrome (Mental Retardation, X-Linked, Syndromic 3; Mental Retardation, X-Linked, with Spastic Diplegia)
Sweaty Foot Syndrome
Swiss Cheese Cartilage Syndrome
Swyer Syndrome (Gonadal Dysgenesis, XY Female Type)
Symphalangism-Brachydactyly Syndrome
Syndactyly
Syndrome of Schenthauer Marie Sainton
Synostosis of Talus and Calcaneus with Short Stature
Synpolydactyly
Syringomyelia
Systemic Cystic Angiomatosis and Seip Syndrome
Systemic Lupus Erythematosus
HOME