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- Sackey Sakati Aur syndrome
- Sacral meningocele conotruncal heart defects
- Salcedo syndrome
- Salti Salem syndrome
- Sammartino Decreccio syndrome
- Samson Gardner syndrome
- Samson Viljoen syndrome
- Sanderson Fraser syndrome
- Sandhaus Ben Ami syndrome
- Say Barber Miller syndrome
- Say Carpenter syndrome
- Scapuloiliac dysostosis
- Scapuloperoneal myopathy
- Schaap Taylor Baraitser syndrome
- Schisis association
- Schizophrenia mental retardation deafness retinitis
- Schlegelberger Grote syndrome
- Schofer Beetz Bohl syndrome
- Scholte Begeer Van Essen syndrome
- Schraderman's disease
- Schrander Stumpel Theunissen Hulsmans syndrome
- Schroer Hammer Mauldin syndrome
- Schwartz Newark syndrome
- Sclerocornea, Syndactyly, ambiguous genitalia
- Sclerosing bone dysplasia mental retardation
- Sclerosing Lymphocytic Lobulitis
- Scott Bryant Graham syndrome
- Seemanova Lesny syndrome
- Seghers syndrome
- Segmental vertebral anomalies
- Seizures mental retardation hair dysplasia
- Selig Benacerraf Greene syndrome
- Semmerkrot Haraldsson Weenaes syndrome
- Sener syndrome
- Sengers Hamel Otten syndrome
- Senior syndrome
- Seow Najjar syndrome
- Sequeiros Sack syndrome
- Seres Santamaria Arimany Muniz syndrome
- Sharma Kapoor Ramji syndrome
- Shit Life Syndrome - refers to higher rates of mortality among certain social classes, see Guardian article
- Shith Filkins syndrome
- Shokeir syndrome
- Short broad great toe macrocranium
- Short limb dwarf oedema iris coloboma
- Short limb dwarfism Al Gazali type
- Short limbs subluxed knees cleft palate
- Short rib syndrome Beemer type
- Short stature abnormal skin pigmentation mental retardation
- Short stature Brussels type
- Short stature contractures hypotonia
- Short stature deafness neutrophil dysfunction
- Short stature hyperkaliemia acidosis
- Short stature locking fingers
- Short stature mental retardation eye anomalies
- Short stature mental retardation eye defects
- Short stature microcephaly heart defect
- Short stature microcephaly seizures deafness
- Short stature monodactylous ectrodactyly cleft palate
- Short stature prognathism short femoral necks
- Short stature Robin sequence cleft mandible hand anomalies clubfoot
- Short stature talipes natal teeth
- Short stature valvular heart disease
- Short stature webbed neck heart disease
- Short tarsus absence of lower eyelashes
- Shoulder and thorax deformity congenital heart disease
- Siegler Brewer Carey syndrome
- Silengo Lerone Pelizzo syndrome
- Sillence syndrome
- Simosa Penchaszadeh Bustos syndrome
- Singh Chhaparwal Dhanda syndrome
- Situs inversus totalis with cystic dysplasia of kidneys and pancreas
- Sjogren Larsson like syndrome
- Skeletal dysplasia brachydactyly
- Skeletal dysplasia epilepsy short stature
- Skeletal dysplasia orofacial anomalies
- Skeleto cardiac syndrome with thrombocytopenia
- Sketetal dysplasia coarse facies mental retardation
- Slavotinek Hurst syndrome
- Smet Fabry Fryns syndrome
- Sohval Soffer syndrome
- Sommer Hines syndrome
- Sommer Young Wee Frye syndrome
- Sondheimer syndrome
- Southwestern Athabaskan genetic diseases
- Sparse hair ptosis mental retardation
- Spastic quadriplegia retinitis pigmentosa mental retardation
- Spasticity mental retardation
- Spasticity multiple exostoses
- Spina bifida hypospadias
- Spinal atrophy ophthalmoplegia pyramidal syndrome
- Spinal cord disorder
- Spinal muscular atrophy type I with congenital bone fractures
- Spine rigid cardiomyopathy
- Spinocerebellar ataxia amyotrophy deafness
- Spinocerebellar degenerescence book type
- Splenic agenesis syndrome
- Split hand urinary anomalies spina bifida
- Spondylo costal dysostosis dandy walker
- Spondylocarpotarsal synostosis
- Spondylodysplasia brachyolmia
- Spondyloepimetaphyseal dysplasia congenita, Iraqi
- Spondyloepimetaphyseal dysplasia joint laxity
- Spondylohypoplasia arthrogryposis popliteal pteryg
- Spondylometaphyseal dysplasia, 'corner fracture' t
- Spondylometaphyseal dysplasia, Schmidt type
- Spondylometaphyseal dysplasia, Sedaghatian type
- Spondylometaphyseal dysplasia, X-linked
- Spranger schinzel yers syndrome
- Stampe sorensen syndrome
- Steatocystoma multiplex natal teeth
- Steinfeld syndrome
- Sternal cyst vascular anomalies
- Sternal malformation vascular dysplasia associatio
- Stoelinga de koomen davis syndrome
- Stoll geraudel chauvin syndrome
- Stoll levy francfort syndrome
- Stormorken sjaastad langslet syndrome
- Stratton garcia young syndrome
- Subaortic stenosis short stature syndrome
- Succinic acidemia lactic acidosis congenital
- Succinic acidemia
- Sulfite and xanthine oxydase deficiency
- Summitt syndrome
- Supraumbilical midabdominal raphe and facial cavernous hemangiomas
- Sybert Smith syndrome
- Symmetrical thalamic calcifications
- Symphalangism brachydactyly craniosynostosis
- Symphalangism brachydactyly
- Symphalangism Cushing type
- Symphalangism distal
- Symphalangism familial proximal
- Symphalangism short stature accessory testis
- Symphalangism with multiple anomalies of hands and feet
- Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch
- Syncamptodactyly scoliosis
- Syndactyly cataract mental retardation
- Syndactyly-polydactyly-ear lobe syndrome
- Syngnathia cleft palate
- Syngnathia multiple anomalies
- Synostosis of talus and calcaneus short stature
- Syringomas natal teeth oligodontia
- Syringomelia hyperkeratosis
- Tamari Goodman syndrome
- Tang Hsi Ryu syndrome
- TAU syndrome
- Teebi Kaurah syndrome
- Teebi Naguib Alawadi syndrome
- Teebi Shaltout syndrome
- Teebi syndrome
- Teeth noneruption of with maxillary hypoplasia and genu valgum
- Telecanthus hypertelorism pes cavus
- Telfer Sugar Jaeger syndrome
- Temporomandibular ankylosis
- Temtamy Shalash syndrome
- Teratocarcinosarcoma
- Tetraamelia multiple malformations
- Thakker Donnai syndrome
- Thalamic degeneration symmetrical infantile
- Thalamic degenerescence infantile
- Thanos Stewart Zonana syndrome
- Theodor Hertz Goodman syndrome
- Thiele syndrome
- Thiemann epiphyseal disease
- Thies Reis syndrome
- Thin ribs tubular bones dysmorphism
- Thiopurine S methyltranferase deficiency
- Thomas Jewett Raines syndrome
- Thomas syndrome
- Thompson Baraitser syndrome
- Thong Douglas Ferrante syndrome
- Thoraco abdominal enteric duplication
- Thoraco limb dysplasia Rivera type
- Thoracolaryngopelvic dysplasia
- Thoracopelvic dysostosis
- Thrombocytopathy asplenia miosis
- Thrombocytopenia cerebellar hypoplasia short stature
- Thrombocytopenia multiple congenital anomaly
- Thrombocytopenia Robin sequence
- Thrombomodulin anomalies, familial
- Thumb absent short stature immune deficiency
- Thumb deformity, alopecia, pigmentation anomaly
- Thymic epithelial tumor
- Thymic renal anal lung dysplasia
- Thyrocerebrorenal syndrome
- Thyroid hormone plasma membrane transport defect
- Thyroid, renal and digital anomalies
- Tibiae bowed radial anomalies osteopenia fracture
- Tibial aplasia ectrodactyly hydrocephalus
- Tibial hemimelia cleft lip palate
- Tollner Horst Manzke syndrome
- Tome Brune Fardeau syndrome
- Toriello Lacassie Droste syndrome
- Toriello-Higgins-Miller syndrome
- Torres Ayber syndrome
- Torticollis keloids cryptorchidism renal dysplasia
- Total Hypotrichosis, Mari type
- Toxicophobia
- Tracheoesophageal fistula symphalangism
- Transcobalamin II deficiency
- Transient neonatal arthrogryposis
- Transverse limb deficiency hemangioma
- Treft Sanborn Carey syndrome
- Tricho-onychic dysplasia
- Tricho-retino-dento-digital syndrome
- Trichodental syndrome
- Trichodermodysplasia dental alterations
- Trichodysplasia xeroderma
- Trichomegaly cataract hereditary spherocytosis
- Trichoodontoonychial dysplasia
- Trichorhinophalangeal syndrome type III
- Tricuspid dysplasia
- Trigonocephaly broad thumbs
- Trigonomacrocephaly tibial defect polydactyly
- Trihydroxycholestanoylcoa oxidase isolated deficiency
- Triopia
- Triphalangeal thumb polysyndactyly syndrome
- Trisomy 1 mosaicism
- Trisomy 11 mosaicism
- Trisomy 12 mosaicism
- Trisomy 14 mosaicism
- Trisomy 2 mosaicism
- Trisomy 3 mosaicism
- Trisomy 6
- Trochlear dysplasia
- Tsukahara Azuno Kajii syndrome
- Tsukahara Kajii syndrome
- Tunglang Savage Bellman syndrome
- Turner Morgani Albright
- Tutuncuoglu syndrome