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S-shaped foot ( Skewfoot [10] )
SACS ( Spastic ataxia of the Charlevoix-Saguenay type [8] )
SADDAN [2]
SBH ( Lissencephaly I [10] )
SBLA syndrome ( Li-Fraumeni syndrome [2] )
SBMA ( Spinal and bulbar muscular atrophy, X-linked 1 [11] )
SBS ( Sebastian syndrome [1] )
SBS ( Brooke-Spiegler syndrome [13] )
SC phocomelia syndrome [3]
SC pseudothalidomide syndrome ( SC phocomelia syndrome [3] )
SCA1 ( Spinocerebellar ataxia 1 [4] )
SCA10 ( Spinocerebellar ataxia 10 [1] )
SCA13 ( Spinocerebellar ataxia 13 [1] )
SCA14 ( Spinocerebellar ataxia 14 [2] )
SCA17 ( Spinocerebellar ataxia 17 [5] )
SCA19 ( Spinocerebellar ataxia 19 [1] )
SCA2 ( Spinocerebellar ataxia 2 [12] )
SCA20 ( Spinocerebellar ataxia 20 [1] )
SCA22 ( Spinocerebellar ataxia 19 [1] )
SCA23 ( Spinocerebellar ataxia 23 [1] )
SCA28 ( Spinocerebellar ataxia 28 [1] )
SCA29 ( Spinocerebellar ataxia 29 [2] )
SCA3 ( Machado-Joseph disease [10] )
SCA6 ( Spinocerebellar ataxia 6 [9] )
SCA7 ( Spinocerebellar ataxia 7 [4] )
SCA8 ( Spinocerebellar ataxia 8 [1] )
SCAN1 ( Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy [1] )
SCAR1 ( Spinocerebellar ataxia, autosomal recessive 1 [2] )
SCAR7 ( Spinocerebellar ataxia, autosomal recessive 7 [1] )
SCCD ( Corneal dystrophy, crystalline, of Schnyder [22] )
SCDO1 ( Jarcho-Levin syndrome [11] )
SCDO3 ( Spondylocostal dysostosis, autosomal recessive 3 [1] )
SCID due to ADA deficiency ( Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [1] )
SCKL ( Seckel syndrome [9] )
SCKL1 ( Seckel syndrome [9] )
SCLH ( Lissencephaly I [10] )
SCRA ( Sveinsson chorioretinal atrophy [1] )
SCS ( Saethre-Chotzen syndrome [2] )
SCT ( Spondylocarpotarsal synostosis syndrome [2] )
SD1 ( Syndactyly, type I [2] )
SDS ( Shwachman-Diamond syndrome [3] )
SDSEM ( Spinocerebellar ataxia 2 [12] )
SDTY1 ( Syndactyly, type I [2] )
SDYS ( Simpson-Golabi-Behmel syndrome [2] )
SED congenita ( Spondyloepiphyseal dysplasia congenita [5] )
SED tarda, X-linked ( Spondyloepiphyseal dysplasia tarda, X-linked [3] )
SEDC ( Spondyloepiphyseal dysplasia congenita [5] )
SEDT ( Spondyloepiphyseal dysplasia tarda, X-linked [3] )
SEDT-PA ( Arthropathy, progressive pseudorheumatoid, of childhood [4] )
SEMD, Genevieve type ( Spondyloepimetaphyseal dysplasia, Genevieve type [3] )
SEMD, MATN3-related ( Spondyloepimetaphyseal dysplasia, matrilin-3 related [5] )
SEMD, Strudwick type ( Spondyloepimetaphyseal dysplasia, Strudwick type [2] )
SEMDC ( Spondyloepimetaphyseal dysplasia, Strudwick type [2] )
SEMDJL ( Spondyloepimetaphyseal dysplasia with joint laxity [4] )
SFD ( Fundus dystrophy, pseudoinflammatory, of Sorsby [9] )
SFM syndrome ( Schimmelpenning-Feuerstein-Mims syndrome [22] )
SFWHS ( Skin fragility-woolly hair syndrome [3] )
SGBS ( Simpson-Golabi-Behmel syndrome [2] )
SGBS1 ( Simpson-Golabi-Behmel syndrome [2] )
SGS ( Shprintzen-Goldberg craniosynostosis syndrome [3] )
SHFLD ( Split-hand/foot malformation with long bone deficiency 1 [2] )
SHFLD1 ( Split-hand/foot malformation with long bone deficiency 1 [2] )
SHFM1D ( Split-hand/foot malformation with sensorineural hearing loss [3] )
SHFM3 ( Split-hand/foot malformation 3 [1] )
SHFM4 ( Split-hand/foot malformation 4 [1] )
SHFM5 ( Split-hand/foot malformation 5 [1] )
SHSF3 ( Split-hand/foot malformation 3 [1] )
SIANRF ( Spinal muscular atrophy with respiratory distress 1 [4] )
SIDS deficiency ( Mucopolysaccharidosis, type II [10] )
SIOD ( Schimke immunoosseous dysplasia [8] )
SJA syndrome ( Schwartz-Jampel syndrome [8] )
SJS ( Schwartz-Jampel syndrome [8] )
SJS1 ( Schwartz-Jampel syndrome [8] )
SLO syndrome ( Smith-Lemli-Opitz syndrome [5] )
SLOS ( Smith-Lemli-Opitz syndrome [5] )
SLS ( Sjogren-Larsson syndrome [19] )
SLSN1 ( Senior-Loken syndrome [3] )
SLY syndrome ( Mucopolysaccharidosis, type VII [3] )
SMA III ( Spinal muscular atrophy, type III [1] )
SMA, infantile acute form ( Spinal muscular atrophy, type I [7] )
SMA1 ( Spinal muscular atrophy, type I [7] )
SMA3 ( Spinal muscular atrophy, type III [1] )
SMARD1 ( Spinal muscular atrophy with respiratory distress 1 [4] )
SMAX1 ( Spinal and bulbar muscular atrophy, X-linked 1 [11] )
SMAX3 ( Spinal muscular atrophy, distal, X-linked recessive [1] )
SMD ( Spondyloepimetaphyseal dysplasia, Strudwick type [2] )
SMD, Kozlowski type ( Spondylometaphyseal dysplasia, Kozlowski type [4] )
SMDP2 ( Surfactant metabolism dysfunction, pulmonary, 2 [3] )
SMDP3 ( Surfactant metabolism dysfunction, pulmonary, 3 [11] )
SMED, Strudwick type ( Spondyloepimetaphyseal dysplasia, Strudwick type [2] )
SMED, type I ( Spondyloepimetaphyseal dysplasia, Strudwick type [2] )
SMS ( Smith-Magenis syndrome [9] )
SNE ( Leigh syndrome [26] )
SOST ( Sclerosteosis [1] )
SPAX3 ( Ataxia, spastic, 3, autosomal recessive [1] )
SPD1 ( Synpolydactyly 1 [4] )
SPD2 ( Synpolydactyly 2 [2] )
SPDA1 ( Spondyloarthropathy [7] )
SPG11 ( Spastic paraplegia 11, autosomal recessive [5] )
SPG15 ( Spastic paraplegia 15, autosomal recessive [1] )
SPG21 ( Mast syndrome [1] )
SPG3 ( Spastic paraplegia 3, autosomal dominant [1] )
SPG3A ( Spastic paraplegia 3, autosomal dominant [1] )
SPG4 ( Spastic paraplegia 4, autosomal dominant [3] )
SPG7 ( Spastic paraplegia 7, autosomal recessive [1] )
SPPK1 ( Keratosis palmoplantaris striata I [6] )
SPPK2 ( Keratosis palmoplantaris striata II [6] )
SPPK3 ( Keratosis palmoplantaris striata III [2] )
SPS ( Small patella syndrome [4] )
SRPS IV ( Short rib-polydactyly syndrome, type IV [1] )
SRPS, type I ( Short rib-polydactyly syndrome, type I [2] )
SRPS, type III ( Short rib-polydactyly syndrome, type III [7] )
SRS ( Silver-Russell syndrome [20] )
SSDD ( Ichthyosis, X-linked [10] )
STGD ( Stargardt disease 1 [24] )
STGD1 ( Stargardt disease 1 [24] )
STGD3 ( Stargardt disease 3 [6] )
STGD4 ( Stargardt disease 4 [1] )
STHAG3 ( Tooth agenesis, selective, 3 [7] )
STL1 ( Stickler syndrome, type I [10] )
STL2 ( Stickler syndrome, type II [5] )
STS ( Ichthyosis, X-linked [10] )
STSL ( Sitosterolemia [1] )
STWS ( Stuve-Wiedemann syndrome [4] )
SUNDS ( Brugada syndrome [9] )
SVD ( Vitreoretinal degeneration, snowflake type [2] )
SWS ( Stuve-Wiedemann syndrome [4] )
SWS ( Sturge-Weber syndrome [23] )
Sacral agenesis ( Caudal regression syndrome [14] )
Sacrococcygeal teratoma [25]
Sacrococcygeal teratoma - Histology [5]
Sacrococcygeal teratoma - Imaging [25]
Sacrococcygeal teratoma - Prenatal diagnosis [32]
Saethre-Chotzen syndrome [2]
Saldino-Noonan syndrome ( Short rib-polydactyly syndrome, type I [2] )
Sandhoff disease [2]
Sanfilippo syndrome B ( Mucopolysaccharidosis, type IIIB [2] )
Santavuori disease ( Muscle-eye-brain disease [5] )
Sarcoma family syndrome of Li and Fraumeni ( Li-Fraumeni syndrome [2] )
Scalp defect, congenital ( Aplasia cutis congenita [22] )
Scaphocephaly [7]
Scaphocephaly, maxillary retrusion, and mental retardation [1]
Scapuloilioperoneal atrophy with cardiopathy ( Emery-Dreifuss muscular dystrophy, autosomal dominant [5] )
Scapuloperoneal muscular dystrophy ( Emery-Dreifuss muscular dystrophy [4] )
Scapuloperoneal syndrome, X-linked ( Emery-Dreifuss muscular dystrophy, X-linked [3] )
Scapuloperoneal syndrome, neurogenic type, of Kaeser ( Scapuloperoneal syndrome, neurogenic, Kaeser type [4] )
Scapuloperoneal syndrome, neurogenic, Kaeser type [4]
Scheie syndrome ( Mucopolysaccharidosis, type IS [1] )
Scheuermann disease [4]
Scheuermann juvenile kyphosis ( Scheuermann disease [4] )
Schimke immunoosseous dysplasia [8]
Schimmelpenning-Feuerstein-Mims syndrome [22]
Schimmelpenning-Feuerstein-Mims syndrome - Imaging [10]
Schinzel acrocallosal syndrome ( Acrocallosal syndrome [4] )
Schinzel phocomelia syndrome ( Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome [1] )
Schinzel syndrome ( Ulnar-mammary syndrome [14] )
Schizencephaly [2]
Schizencephaly, closed-lip [5]
Schizencephaly, open-lip [10]
Schmid-Fraccaro syndrome ( Cat eye syndrome [2] )
Schnyder crystalline corneal dystrophy ( Corneal dystrophy, crystalline, of Schnyder [22] )
Schut-Haymaker type OPCA ( Spinocerebellar ataxia 1 [4] )
Schwartz-Jampel syndrome [8]
Schwartz-Jampel syndrome, neonatal ( Stuve-Wiedemann syndrome [4] )
Schwartz-Jampel syndrome, type 1 ( Schwartz-Jampel syndrome [8] )
Schwartz-Jampel syndrome, type 2 ( Stuve-Wiedemann syndrome [4] )
Schwartz-Jampel-Aberfeld syndrome ( Schwartz-Jampel syndrome [8] )
Scimitar anomaly ( Scimitar syndrome [35] )
Scimitar syndrome [35]
Scleroatrophic and keratotic dermatosis of limbs ( Sclerotylosis [2] )
Sclerocornea [4]
Scleroderma, familial progressive [23]
Sclerosteosis [1]
Sclerotylosis [2]
Scoliosis, congenital, with unilateral unsegmented bar ( Spondylocarpotarsal synostosis syndrome [2] )
Scott-Taor syndrome ( Small patella syndrome [4] )
Scrotal tongue ( Geographic tongue [9] )
Sea-blue histiocyte disease [3]
Sea-blue histiocytosis ( Sea-blue histiocyte disease [3] )
Sebaceous cysts, multiple ( Steatocystoma multiplex [9] )
Sebaceous nevus syndrome, linear ( Schimmelpenning-Feuerstein-Mims syndrome [22] )
Sebastian platelet syndrome ( Sebastian syndrome [1] )
Sebastian syndrome [1]
Seckel syndrome [9]
Seckel syndrome 1 ( Seckel syndrome [9] )
Seckel-type dwarfism ( Seckel syndrome [9] )
Second premolars and third molars, absence of ( Hypodontia, autosomal dominant [4] )
Seemanova syndrome II ( Nijmegen breakage syndrome [14] )
Segmental neurofibromatosis ( Neurofibromatosis, type I - Segmental neurofibromatosis [24] )
Seip syndrome ( Berardinelli-Seip congenital lipodystrophy [15] )
Seitelberger disease ( Neuroaxonal dystrophy, infantile [1] )
Self-healing collodion baby ( Ichthyosis congenita [15] )
Semilobar holoprosencephaly ( Holoprosencephaly, semilobar [12] )
Seminal vesicle agenesis [2]
Seminal vesicle cyst, congenital [4]
Sener syndrome [5]
Senior-Loken syndrome [3]
Senior-Loken syndrome 1 ( Senior-Loken syndrome [3] )
Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear ( Deafness, X-linked 2 [5] )
Septate uterus ( Uterus septus [37] )
Septooptic dysplasia [28]
Serine:pyruvate aminotransferase deficiency ( Hyperoxaluria, primary, type I [30] )
Serpentine foot ( Skewfoot [10] )
Sertoli cell-only syndrome [18]
Severe achondroplasia with developmental delay and acanthosis nigricans ( SADDAN [2] )
Severe combined immunodeficiency with hypereosinophilia ( Omenn syndrome [4] )
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [1]
Severe infantile axonal neuropathy with respiratory failure ( Spinal muscular atrophy with respiratory distress 1 [4] )
Sex reversal, XY, with adrenal failure [1]
Sex reversal, XY, without adrenal failure [1]
Shah-Waardenburg syndrome ( Waardenburg-Shah syndrome [5] )
Sheldon-Hall syndrome ( Arthrogryposis, distal, type 2B [3] )
Short head ( Brachycephaly [2] )
Short rib syndrome, Beemer type ( Short rib-polydactyly syndrome, type IV [1] )
Short rib-polydactyly syndrome [2]
Short rib-polydactyly syndrome, type I [2]
Short rib-polydactyly syndrome, type III [7]
Short rib-polydactyly syndrome, type IV [1]
Short stature, facial dysmorphism, severe brachydactyly, and syndactyly ( Dauwerse-Peters syndrome [3] )
Shortness of the fingers and toes ( Brachydactyly [3] )
Shprintzen VCF syndrome ( Velocardiofacial syndrome [16] )
Shprintzen-Goldberg craniosynostosis syndrome [3]
Shprintzen-Goldberg syndrome ( Shprintzen-Goldberg craniosynostosis syndrome [3] )
Shwachman-Bodian syndrome ( Shwachman-Diamond syndrome [3] )
Shwachman-Diamond syndrome [3]
Shy-Magee syndrome ( Central core disease of muscle [3] )
Sialic acid storage disorder, infantile ( Infantile sialic acid storage disorder [5] )
Sialidase deficiency ( Neuraminidase deficiency [4] )
Sialidosis, type I ( Neuraminidase deficiency [4] )
Sialidosis, type II ( Neuraminidase deficiency [4] )
Sialolipidosis ( Mucolipidosis IV [7] )
Sialuria [2]
Sialuria, French type ( Sialuria [2] )
Sialuria, infantile form ( Infantile sialic acid storage disorder [5] )
Siamese twins ( Conjoined twins [9] )
Sickle cell anemia [35]
Sickle cell anemia - Eyes [4]
Sickle cell anemia - Musculoskeletal system [24]
Sickle cell anemia - Nervous system [32]
Sickle cell anemia - Spleen [8]
Sickle cell disease ( Sickle cell anemia [35] )
Siderius X-linked mental retardation syndrome [1]
Siderius-Hamel syndrome ( Siderius X-linked mental retardation syndrome [1] )
Sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction ( Pearson marrow-pancreas syndrome [7] )
Siemerling-Creutzfeldt disease ( Adrenoleukodystrophy [67] )
Siewert syndrome ( Kartagener syndrome [12] )
Silver-Russell dwarfism ( Silver-Russell syndrome [20] )
Silver-Russell syndrome [20]
Simian crease [2]
Simpson dysmorphia syndrome ( Simpson-Golabi-Behmel syndrome [2] )
Simpson-Golabi-Behmel syndrome [2]
Simpson-Golabi-Behmel syndrome, type 1 ( Simpson-Golabi-Behmel syndrome [2] )
Single transverse palmar crease ( Simian crease [2] )
Sipple syndrome ( Multiple endocrine neoplasia, type IIA [43] )
Sirenomelia [19]
Sirenomelia - Prenatal diagnosis [4]
Sitosterolemia [1]
Situs inversus [30]
Sjogren-Larsson syndrome [19]
Skewfoot [10]
Skin creases, multiple benign ring-shaped, of limbs ( Michelin tire baby syndrome [1] )
Skin fragility-woolly hair syndrome [3]
Skull and scalp defect, congenital ( Aplasia cutis congenita [22] )
Small non-cleaved cell lymphoma ( Burkitt lymphoma [19] )
Small patella syndrome [4]
Smith-Lemli-Opitz syndrome [5]
Smith-Magenis syndrome [9]
Sneddon syndrome [17]
Snowflake vitreoretinal degeneration ( Vitreoretinal degeneration, snowflake type [2] )
Sorsby fundus dystrophy ( Fundus dystrophy, pseudoinflammatory, of Sorsby [9] )
Sotos syndrome [19]
Southeast Asian ovalocytosis ( Ovalocytosis, Southeast Asian [2] )
Spastic ataxia of the Charlevoix-Saguenay type [8]
Spastic paraplegia 11, autosomal recessive [5]
Spastic paraplegia 15, autosomal recessive [1]
Spastic paraplegia 3, autosomal dominant [1]
Spastic paraplegia 4, autosomal dominant [3]
Spastic paraplegia 7, autosomal recessive [1]
Spastic paraplegia and retinal degeneration ( Spastic paraplegia 15, autosomal recessive [1] )
Spastic paraplegia, autosomal recessive, 21 ( Mast syndrome [1] )
Spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum ( Spastic paraplegia 11, autosomal recessive [5] )
Spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum ( Spastic paraplegia 11, autosomal recessive [5] )
Spastic paraplegia, hereditary [2]
Spear syndrome ( Microphthalmia, syndromic 9 [1] )
Speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering ( Epidermolysis bullosa simplex with mottled pigmentation [2] )
Spermatogenesis arrest [13]
Spermatogenic arrest, Y-linked ( Spermatogenic failure, nonobstructive, Y-linked [3] )
Spermatogenic failure, nonobstructive, Y-linked [3]
Spherocytosis, hereditary [11]
Spherocytosis, severe atypical, due to suspected ankyrin defect ( Spherocytosis, hereditary [11] )
Spider fingers ( Arachnodactyly [4] )
Spiegler-Brooke syndrome ( Brooke-Spiegler syndrome [13] )
Spina bifida [14]
Spinal and bulbar muscular atrophy ( Spinal and bulbar muscular atrophy, X-linked 1 [11] )
Spinal and bulbar muscular atrophy, X-linked 1 [11]
Spinal muscular atrophy [17]
Spinal muscular atrophy with respiratory distress 1 [4]
Spinal muscular atrophy, benign, with hypertrophy of Calves ( Spinal and bulbar muscular atrophy, X-linked 1 [11] )
Spinal muscular atrophy, diaphragmatic ( Spinal muscular atrophy with respiratory distress 1 [4] )
Spinal muscular atrophy, distal, X-linked 3 ( Spinal muscular atrophy, distal, X-linked recessive [1] )
Spinal muscular atrophy, distal, X-linked recessive [1]
Spinal muscular atrophy, distal, type V [4]
Spinal muscular atrophy, distal, with upper limb predominance ( Spinal muscular atrophy, distal, type V [4] )
Spinal muscular atrophy, mild childhood and adolescent form ( Spinal muscular atrophy, type III [1] )
Spinal muscular atrophy, type I [7]
Spinal muscular atrophy, type I, with congenital bone fractures [3]
Spinal muscular atrophy, type III [1]
Spinal osteochondrosis ( Scheuermann disease [4] )
Spine duplication [3]
Spinocerebellar ataxia [1]
Spinocerebellar ataxia 1 [4]
Spinocerebellar ataxia 10 [1]
Spinocerebellar ataxia 13 [1]
Spinocerebellar ataxia 14 [2]
Spinocerebellar ataxia 17 [5]
Spinocerebellar ataxia 19 [1]
Spinocerebellar ataxia 2 [12]
Spinocerebellar ataxia 20 [1]
Spinocerebellar ataxia 22 ( Spinocerebellar ataxia 19 [1] )
Spinocerebellar ataxia 23 [1]
Spinocerebellar ataxia 28 [1]
Spinocerebellar ataxia 29 [2]
Spinocerebellar ataxia 3 ( Machado-Joseph disease [10] )
Spinocerebellar ataxia 6 [9]
Spinocerebellar ataxia 7 [4]
Spinocerebellar ataxia 8 [1]
Spinocerebellar ataxia, Cuban type ( Spinocerebellar ataxia 2 [12] )
Spinocerebellar ataxia, autosomal recessive 1 [2]
Spinocerebellar ataxia, autosomal recessive 7 [1]
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy [1]
Spinocerebellar atrophy I ( Spinocerebellar ataxia 1 [4] )
Spinocerebellar atrophy II ( Spinocerebellar ataxia 2 [12] )
Spinocerebellar atrophy III ( Machado-Joseph disease [10] )
Spinocerebellar degeneration with slow eye movements ( Spinocerebellar ataxia 2 [12] )
Spinopontine atrophy ( Machado-Joseph disease [10] )
Spleen, accessory ( Accessory spleen [38] )
Spleen, ectopic [16]
Splenogonadal fusion [13]
Splenorenal fusion [5]
Split notochord syndrome [4]
Split-hand and split-foot with mandibular hypoplasia ( Acrorenal-mandibular syndrome [3] )
Split-hand/foot malformation [7]
Split-hand/foot malformation 3 [1]
Split-hand/foot malformation 4 [1]
Split-hand/foot malformation 5 [1]
Split-hand/foot malformation with long bone deficiency ( Split-hand/foot malformation with long bone deficiency 1 [2] )
Split-hand/foot malformation with long bone deficiency 1 [2]
Split-hand/foot malformation with sensorineural hearing loss [3]
Spondylarthropathy, susceptibility to, 1 ( Spondyloarthropathy [7] )
Spondyloarthropathy [7]
Spondylocarpotarsal syndrome ( Spondylocarpotarsal synostosis syndrome [2] )
Spondylocarpotarsal synostosis syndrome [2]
Spondylocostal dysostosis [2]
Spondylocostal dysostosis, autosomal recessive 1 ( Jarcho-Levin syndrome [11] )
Spondylocostal dysostosis, autosomal recessive 3 [1]
Spondyloepimetaphyseal dysplasia with joint laxity [4]
Spondyloepimetaphyseal dysplasia with multiple dislocations [3]
Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type ( Spondyloepimetaphyseal dysplasia with multiple dislocations [3] )
Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type ( Spondyloepimetaphyseal dysplasia with multiple dislocations [3] )
Spondyloepimetaphyseal dysplasia, Genevieve type [3]
Spondyloepimetaphyseal dysplasia, Strudwick type [2]
Spondyloepimetaphyseal dysplasia, matrilin-3 related [5]
Spondyloepiphyseal dysplasia congenita [5]
Spondyloepiphyseal dysplasia tarda with progressive arthropathy ( Arthropathy, progressive pseudorheumatoid, of childhood [4] )
Spondyloepiphyseal dysplasia tarda, X-linked [3]
Spondyloepiphyseal dysplasia, Kimberley type [1]
Spondyloepiphyseal dysplasia, congenital type ( Spondyloepiphyseal dysplasia congenita [5] )
Spondyloepiphyseal dysplasia, late ( Spondyloepiphyseal dysplasia tarda, X-linked [3] )
Spondyloepiphyseal dysplasia, pseudoachondroplastic ( Pseudoachondroplasia [5] )
Spondylometaepiphyseal dysplasia congenita, Strudwick type ( Spondyloepimetaphyseal dysplasia, Strudwick type [2] )
Spondylometaepiphyseal dysplasia, Menger type ( Anauxetic dysplasia [7] )
Spondylometaepiphyseal dysplasia, anauxetic type ( Anauxetic dysplasia [7] )
Spondylometaphyseal dysplasia ( Spondyloepimetaphyseal dysplasia, Strudwick type [2] )
Spondylometaphyseal dysplasia, Japanese type ( Metaphyseal chondrodysplasia, Schmid type [4] )
Spondylometaphyseal dysplasia, Kozlowski type [4]
Spondylothoracic dysostosis ( Jarcho-Levin syndrome [11] )
Spondylothoracic dysplasia ( Jarcho-Levin syndrome [11] )
Spongy degeneration of central nervous system ( Canavan disease [13] )
Spontaneous occlusion of the circle of Willis ( Moyamoya disease [70] )
Sprengel deformity [3]
St. Helena dysplasia ( Acromesomelic dysplasia, Maroteaux type [9] )
Stapedial artery, persistent [22]
Stargardt disease 1 [24]
Stargardt disease 3 [6]
Stargardt disease 4 [1]
Stark-Kaeser syndrome ( Scapuloperoneal syndrome, neurogenic, Kaeser type [4] )
Stationary night blindness, Oguchi type ( Oguchi disease [6] )
Steatocystoma multiplex [9]
Steatocystoma multiplex - Histology [9]
Steatocystoma multiplex - Imaging [8]
Steele-Richardson-Olszewski syndrome ( Supranuclear palsy, progressive, 1 [12] )
Steely hair disease ( Menkes disease [15] )
Stein-Leventhal syndrome ( Polycystic ovary syndrome [30] )
Steinert disease ( Dystrophia myotonica [14] )
Sternal cleft, congenital [4]
Sternomastoid muscle, congenital absence [2]
Sternum bifidum ( Bifid rib [1] )
Sternum, congenital absence ( Asternia [1] )
Steroid sulfatase deficiency ( Ichthyosis, X-linked [10] )
Steroid sulfatase deficiency disease ( Ichthyosis, X-linked [10] )
Stickler syndrome [7]
Stickler syndrome, autosomal recessive, COL9A1-related [2]
Stickler syndrome, beaded vitreous type ( Stickler syndrome, type II [5] )
Stickler syndrome, membranous vitreous type ( Stickler syndrome, type I [10] )
Stickler syndrome, type I [10]
Stickler syndrome, type II [5]
Stickler syndrome, vitreous type 1 ( Stickler syndrome, type I [10] )
Stickler syndrome, vitreous type 2 ( Stickler syndrome, type II [5] )
Streblodactyly ( Camptodactyly [5] )
Streeter anomaly ( Amniotic band syndrome [13] )
Striate palmoplantar keratoderma I ( Keratosis palmoplantaris striata I [6] )
Striate palmoplantar keratoderma II ( Keratosis palmoplantaris striata II [6] )
Striate palmoplantar keratoderma III ( Keratosis palmoplantaris striata III [2] )
Strudwick syndrome ( Spondyloepimetaphyseal dysplasia, Strudwick type [2] )
Strumpell disease ( Spastic paraplegia 3, autosomal dominant [1] )
Sturge disease ( Sturge-Weber syndrome [23] )
Sturge-Weber syndrome [23]
Sturge-Weber syndrome - Dental anomalies [3]
Sturge-Weber syndrome - Eyes [21]
Sturge-Weber syndrome - Nervous system [27]
Sturge-Weber-Krabbe syndrome ( Sturge-Weber syndrome [23] )
Stuve-Wiedemann syndrome [4]
Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome ( Stuve-Wiedemann syndrome [4] )
Subcortical band heterotopia ( Lissencephaly I [10] )
Subcortical band heterotopia, X-linked ( Lissencephaly, X-linked [2] )
Subcortical laminar heterotopia ( Lissencephaly I [10] )
Subcortical laminar heterotopia, X-linked ( Lissencephaly, X-linked [2] )
Sucrase-isomaltase deficiency ( Disaccharide intolerance I [1] )
Sucrose intolerance, congenital ( Disaccharide intolerance I [1] )
Sucrose-isomaltose malabsorption, congenital ( Disaccharide intolerance I [1] )
Sudden unexplained nocturnal death syndrome ( Brugada syndrome [9] )
Sulfatide lipidosis ( Metachromatic leukodystrophy [22] )
Sulfite oxidase deficiency ( Sulfocysteinuria [4] )
Sulfocysteinuria [4]
Sulfoiduronate sulfatase deficiency ( Mucopolysaccharidosis, type II [10] )
Superfetation [4]
Superior vena cava duplication [3]
Superior vena cava, persistent left [37]
Supernumerary breast ( Breast tissue, accessory [19] )
Supernumerary spleen ( Accessory spleen [38] )
Supernumerary testes ( Polyorchidism [12] )
Supranuclear palsy, progressive, 1 [12]
Supravalvar aortic stenosis ( Williams-Beuren syndrome [24] )
Surdo-cardiac syndrome ( Jervell and Lange-Nielsen syndrome [3] )
Surfactant metabolism dysfunction, pulmonary, 2 [3]
Surfactant metabolism dysfunction, pulmonary, 3 [11]
Susceptibility to malignant hyperthermia [3]
Sveinsson chorioretinal atrophy [1]
Swyer syndrome [5]
Symmetric dyschromatosis of the extremities ( Dyschromatosis symmetrica hereditaria [8] )
Syndactyly [6]
Syndactyly with metacarpal and metatarsal fusion ( Syndactyly, type V [2] )
Syndactyly, preaxial polydactyly, and sternal deformity ( Acropectoral syndrome [2] )
Syndactyly, type I [2]
Syndactyly, type II ( Synpolydactyly 1 [4] )
Syndactyly, type V [2]
Syndromatic hepatic ductular hypoplasia ( Alagille syndrome [18] )
Synostosis, carpal, with dysplastic elbow joints and brachydactyly ( Liebenberg syndrome [6] )
Synpolydactyly 1 [4]
Synpolydactyly 2 [2]
Synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses ( Synpolydactyly 2 [2] )
Synspondylism, congenital ( Spondylocarpotarsal synostosis syndrome [2] )
Syphilis, congenital [26]
Syringomas, multiple [6]
Syringomyelia [18]
Systemic sclerosis, susceptibility to ( Scleroderma, familial progressive [23] )
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Edited by Aldo Campana, February 8, 2010
