Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphosis, Supernumerary vertebral ossification centers... |
OMIM:609813 |
Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Hemivertebrae, Unilateral brac... |
OMIM:173800 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... |
OMIM:613686 |
Femoral-Facial Syndrome |
|
Sprengel anomaly, Rib fusion, Coxa vara, Vertebral segmentation defect, Talipes equinovarus, Apla... |
ORPHA:1988 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck |
OMIM:608681 |
Spondylometaphyseal Dysplasia, Axial |
|
Narrow chest, Coxa vara, Retinal degeneration, Narrow greater sciatic notch, Splenomegaly, Rod-co... |
OMIM:602271 |
Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Abnormal mitral valve morphology, Kyphosis, Atrial septal defect, Mesomelic/rhizome... |
ORPHA:1354 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib ... |
ORPHA:3268 |
Becker Nevus Syndrome |
|
Rib fusion, Kyphosis, Pectus excavatum, Supernumerary nipple, Micromelia, Scoliosis, Pectus carin... |
ORPHA:64755 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... |
OMIM:277300 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Rib fusion, Kyphosis, Anomalous pulmonary venous return, Hypospadi... |
ORPHA:2311 |
Spondylometaphyseal Dysplasia, East African Type |
|
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Bell-shaped thorax... |
OMIM:611702 |
Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Pectus carinatum... |
OMIM:122600 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Irregular capital femoral epiphysis, Broa... |
OMIM:609052 |
Jeune Syndrome |
|
Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Abnormality of retinal p... |
ORPHA:474 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Short neck, Posterior rib fusion, Scoliosis, Spina bifida occulta,... |
ORPHA:1797 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Pectus excavatum, Atrial septal defect, Abnormal rib cage morphology, Unilateral renal agenesis, ... |
OMIM:608406 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... |
OMIM:619902 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Distal ulnar epiphyseal stippl... |
OMIM:609616 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... |
ORPHA:174 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Rod-cone dystrophy, Postaxial polydactyly, Brachydactyly, Bell-shaped thorax, Horiz... |
OMIM:615633 |
Metatropic Dysplasia |
|
Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the femoral trochante... |
OMIM:156530 |
Kaposiform Lymphangiomatosis |
|
Abnormality of femur morphology, Lymphangioma, Enlarged kidney, Abnormal humerus morphology, Panc... |
ORPHA:464329 |
Kyphomelic Dysplasia |
|
Narrow chest, Undulate ribs, Anterior rib cupping, Micromelia, Abnormal form of the vertebral bod... |
ORPHA:1801 |
Axial Spondylometaphyseal Dysplasia |
|
Platyspondyly, Upper limb undergrowth, Retinal dystrophy, Optic atrophy, Flared, irregular rib en... |
ORPHA:168549 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Pectus excavatum, Anomalous pulmonary venous return, Absent thumb, ... |
ORPHA:392 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... |
OMIM:607778 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Atrioventricular canal defect, Short humerus, Abnormality of the vertebral colu... |
OMIM:314390 |
Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... |
ORPHA:1836 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Femoral bowing, Cone-shaped epiphysis, Short digit, Enlarged kidney, Hypoplasia of the ulna, Shor... |
OMIM:613091 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Metatropic Dysplasia |
|
Narrow chest, Kyphosis, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Camptodactyly of f... |
ORPHA:2635 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... |
OMIM:102510 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... |
OMIM:608940 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Rib fusion, Failure to thrive, Atrial septal defect, Multicystic kidney dysplasia, Abnormal aorti... |
ORPHA:261197 |
Diaphanospondylodysostosis |
|
Vertebral segmentation defect, Talipes equinovarus, Unossified sacrum, Nephrogenic rest, Abnormal... |
OMIM:608022 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hepatomegaly, Talipes equinovarus, Pulmonic stenosis, Femoral bowing, Cyst... |
OMIM:615415 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... |
OMIM:615382 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Ventricular septal defect, Y-shaped metacarpals, Distal shortening of limbs, Rib f... |
OMIM:146510 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Sclerotic v... |
ORPHA:2790 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal cardiac septum morphology, Cachexia, Abnormality of the spleen, Abnormal form of the ver... |
ORPHA:93941 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Pectus excavatum, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Duplication of the... |
OMIM:268310 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Hemivertebrae, Radioulnar synostosis, Ventricular septal defect, Sprenge... |
OMIM:134780 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Hepatomegaly, Lumbar hyperl... |
OMIM:602557 |
Thoracolaryngopelvic Dysplasia |
|
Irregular vertebral endplates, Slender build, Irregular chondrocostal junctions, Short ribs, Meta... |
OMIM:187760 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Platyspondyly, Broad ... |
OMIM:271650 |
Mucopolysaccharidosis-Plus Syndrome |
|
Pectus excavatum, Hepatomegaly, Short neck, Pectus carinatum, Enlarged kidney, Optic atrophy, Thr... |
OMIM:617303 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... |
OMIM:617405 |
Juberg-Hayward Syndrome |
|
Abnormality of finger, Hypoplasia of the radius, Hypospadias, Scoliosis, Radioulnar synostosis, A... |
ORPHA:2319 |
Isolated Klippel-Feil Syndrome |
|
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Renal hypoplasia/aplasia, Abnormal vertebral s... |
ORPHA:2345 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Platyspondyly, Micromelia, Synostosis of carpal bones, Upper limb undergrowth, Pectus ... |
ORPHA:93351 |
Autosomal Recessive Robinow Syndrome |
|
Pectus excavatum, Short neck, Pectus carinatum, Ventricular septal defect, Sandal gap, Elbow disl... |
ORPHA:1507 |
Poland Syndrome |
|
Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Pectus carinatum, R... |
ORPHA:2911 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
Prune Belly Syndrome |
|
Pectus excavatum, Abnormality of the ureter, Congenital hip dislocation, Ventricular septal defec... |
ORPHA:2970 |
Lethal Congenital Contracture Syndrome 10 |
|
Narrow chest, Thoracic scoliosis, Talipes equinovarus, Adducted thumb, Hypoplasia of the thymus, ... |
OMIM:617022 |
Cantu Syndrome |
|
Narrow chest, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Broad first metata... |
OMIM:239850 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Vertebral segmentation defect, Butterfly vertebrae, Talipes equinovarus, Cryptorchidism, Small ha... |
OMIM:611209 |
Cog1-Cdg |
|
Posterior rib gap, Rib fusion, Vertebral segmentation defect, Kyphoscoliosis, Talipes equinovarus... |
ORPHA:263508 |
Wolf-Hirschhorn Syndrome |
|
Abnormal cardiac septum morphology, Optic atrophy, Sacral dimple, Rib fusion, Talipes equinovarus... |
ORPHA:280 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Coxa vara, Platyspondyly, Micromelia, Short palm, Flared, irregular rib ends |
ORPHA:168555 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Short neck, Platyspondyly, Ventricular septal defect,... |
ORPHA:93267 |
Mucopolysaccharidosis, Type X |
|
Nephrolithiasis, Beaking of vertebral bodies, Aortic valve stenosis, Left ventricular hypertrophy... |
OMIM:619698 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Pectus excavatum, Metaphyseal spurs, Dysplastic iliac wing, Short long bone, ... |
OMIM:608728 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Rib fusion, Urethral atresia, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Shor... |
OMIM:271520 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormality of the humeroulnar joint, Eunuchoid habitus, Hypoplasia of penis, Hemivertebrae, Shor... |
ORPHA:2234 |
Sprengel Deformity |
|
Sprengel anomaly, Hemivertebrae, Shoulder muscle hypoplasia, Scoliosis, Spina bifida occulta, Cer... |
OMIM:184400 |
Diastrophic Dysplasia |
|
Kyphosis, Abnormal clavicle morphology, Hypoplastic cervical vertebrae, Camptodactyly of finger, ... |
ORPHA:628 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Narrow chest, Metaphyseal cupping, Dysplastic sacrum, Short ribs, Small for gestational age, Ilia... |
OMIM:613320 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Pectus excavatum, Hemivertebrae, Short neck, Large for gestational age, Bull's eye maculopathy, S... |
OMIM:213980 |
Kbg Syndrome |
|
Rib fusion, Clinodactyly of the 5th finger, Ulnar deviation of the 2nd finger, Cutaneous syndacty... |
OMIM:148050 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Hepatomegaly, Splenomegaly, Ovoid thoracolumbar vertebrae, Heparan sulfate excret... |
OMIM:252920 |
Dyggve-Melchior-Clausen Disease |
|
Broad carpal bones, Short neck, Platyspondyly, Hypoplasia of the capital femoral epiphysis, Pectu... |
ORPHA:239 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... |
OMIM:184250 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Abnormal clavicle morphology, Pectus excavatum, Abnormal reticulocyte morphology, Abnor... |
ORPHA:2522 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Rib fusion, Butterfly vertebrae, Micropenis, Optic nerve hypoplasia, Hemiver... |
OMIM:206900 |
Robinow Syndrome |
|
Tricuspid atresia, Hemivertebrae, Ventricular septal defect, Bifid distal phalanx of the thumb, A... |
ORPHA:97360 |
Endocrine-Cerebroosteodysplasia |
|
Narrow chest, Ulnar deviation of the hand, Postaxial polydactyly, Preaxial polydactyly, Micropeni... |
OMIM:612651 |
Mosaic Trisomy 14 |
|
Narrow chest, Failure to thrive, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short... |
ORPHA:1703 |
Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Cone-shaped epiphyses of the phalanges of the hand, Chronic kidney disease, Hepatomegaly, Retinal... |
OMIM:615630 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Down-sloping shoulders, Short neck, Ulnar deviation of finger, Rocker bottom foot, Rib fusion, Ta... |
OMIM:265000 |
Infantile Sialic Acid Storage Disease |
|
Metaphyseal irregularity, Failure to thrive, Nephrotic syndrome, Hepatomegaly, Vacuolated lymphoc... |
OMIM:269920 |
Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Prominent sternum, Hepatomegaly, Anterior beak... |
OMIM:253000 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Vertebral segmentation defect, Rib fusion, Failure to thrive, Pectus excavatum, Abnormal sternum ... |
ORPHA:2990 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Narrow chest, Metaphyseal cupping, Severe limb shortening, Thin ribs, Short ribs, Disc-like verte... |
OMIM:151210 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Renal agenesis, Short neck, Renal dysplasia, Abnormal rib morpholo... |
ORPHA:2578 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Kyphosis, Failure to thrive, Splenomegaly, Short neck, Genu valgum, Broad r... |
ORPHA:583 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platyspondyly, Short n... |
OMIM:184252 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... |
OMIM:223800 |
Mucolipidosis Ii Alpha/Beta |
|
Pectus excavatum, Hepatomegaly, Bullet-shaped phalanges of the hand, Enlarged kidney, Varus defor... |
OMIM:252500 |
Melnick-Needles Syndrome |
|
Narrow chest, Abnormal cardiac septum morphology, Short clavicles, Cone-shaped epiphyses of the p... |
ORPHA:2484 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Vertebral segmentation defect, Bicuspid aortic valve, Anomalous p... |
ORPHA:1120 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Hypoplasia of penis, Bro... |
ORPHA:3082 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Horseshoe kidney, Clinodactyl... |
ORPHA:3320 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Thin ribs, Platy... |
OMIM:618395 |
Cerebrofaciothoracic Dysplasia |
|
Sprengel anomaly, Rib fusion, Bifid ribs, Narrow chest, Vertebral segmentation defect, Hemiverteb... |
ORPHA:1394 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Multiple rib fractures, Short ribs, Short femur, Flared metaphysis, A... |
OMIM:616897 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Optic atrophy, Diaphyseal thickening |
ORPHA:1513 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Splenomegaly, Abnormally ossified vertebrae, Abnormal rib morpholog... |
ORPHA:3035 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Shwachman-Diamond Syndrome 1 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Metaphyseal sclerosis, Proximal femoral epiphysi... |
OMIM:260400 |
Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Abnormality of retinal pigmentation, Butterfly vertebrae, Hepatoblastoma,... |
ORPHA:50 |
Cantú Syndrome |
|
Narrow chest, Short distal phalanx of finger, Finger syndactyly, Broad hallux phalanx, Short neck... |
ORPHA:1517 |
Aa Amyloidosis |
|
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Platyspondyly, Coxa vara, Prominent sternum, Thin ribs, Flared iliac wing, Metaphyseal widening, ... |
OMIM:300232 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Sprengel anomaly, Talipes equinovarus, Hypertrophy of the urinary bladder, Autoimmune thrombocyto... |
OMIM:601389 |
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Broad phalanx, Genu valgum, Irregular iliac crest, Short long bone, Metaphyseal irregularity, Sho... |
OMIM:250420 |
Thanatophoric Dysplasia, Type Ii |
|
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... |
OMIM:187601 |
Baller-Gerold Syndrome |
|
Rib fusion, Carpal synostosis, Hypoplasia of the radius, Anomalous splenoportal venous system, Ab... |
OMIM:218600 |
White Forelock With Malformations |
|
Sprengel anomaly, Clinodactyly of the 5th finger, Atrial septal defect, Spina bifida occulta, Abn... |
ORPHA:2475 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... |
OMIM:208540 |
1P36 Deletion Syndrome |
|
Abnormal cardiac septum morphology, 11 pairs of ribs, Optic atrophy, Spinal canal stenosis, Rib f... |
ORPHA:1606 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Hepatomegaly... |
OMIM:230500 |
Campomelia, Cumming Type |
|
Hepatomegaly, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Micromelia, Brachydact... |
ORPHA:1318 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Barrel-shaped chest, Short neck, Heparan sulfate excretion in urine, Pectus carinatum, Enlarged k... |
ORPHA:505248 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Congenital hip dislocation, Enlarge... |
OMIM:306955 |
Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Kyphosis, Short neck, Platyspondyly, Scoliosis, Pectus carinatum, Hyperlor... |
ORPHA:582 |
Short Rib-Polydactyly Syndrome |
|
Nephronophthisis, Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the long bones, Sho... |
ORPHA:1505 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Platyspondyly, Retinal thinning, Rhizomelia, Abnormal epiphysis morphology, Ovoid vertebral bodie... |
ORPHA:85167 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Hepatomegaly, Thrombocytopenia, Anemia, Lymphadenopathy, Jau... |
ORPHA:858 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Enlarged kidney, Ventricular septal defect, Large for gestational age, Abnormal femoral torsion, ... |
ORPHA:500095 |
Axial Mesodermal Dysplasia Spectrum |
|
Vertebral segmentation defect, Renal hypoplasia/aplasia, Abnormality of the ureter, Short neck, A... |
ORPHA:1834 |
Cartilage-Hair Hypoplasia |
|
Abnormal cardiac septum morphology, Hepatomegaly, Abnormally ossified vertebrae, Short neck, Micr... |
ORPHA:175 |
Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormal localization of kidney, Hydronephrosi... |
ORPHA:195 |
Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Kyphosis, Aortic valve stenosis, Prominent ste... |
OMIM:253010 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Cone-shaped epiphyses of the phalanges of the hand, Retinal degeneration, Hypoplasia of the ulna,... |
OMIM:208500 |
Diaphanospondylodysostosis |
|
Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Multiple renal cysts, Ab... |
ORPHA:66637 |
Schneckenbecken Dysplasia |
|
Narrow chest, Metaphyseal irregularity, Advanced ossification of carpal bones, Short long bone, S... |
OMIM:269250 |
Fucosidosis |
|
Glycopeptiduria, Lumbar hyperlordosis, Hepatomegaly, Vacuolated lymphocytes, Oligosacchariduria, ... |
OMIM:230000 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Narrow chest, Retinal degeneration, Short ribs, Brachydactyly, Polydactyly, Scoliosis, Hepatic cy... |
OMIM:613819 |
Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Butterfly vertebrae, Hepatoblastoma, Hemivertebrae, Block vertebrae, Reti... |
OMIM:304050 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Supernumerary ribs, Vertebral fusion, Vertebral segmentation defect |
OMIM:221950 |
Wolf-Hirschhorn Syndrome |
|
Radioulnar synostosis, Ventricular septal defect, Single transverse palmar crease, Biliary tract ... |
OMIM:194190 |
Holt-Oram Syndrome |
|
Pectus excavatum, Absent thumb, Hypoplasia of the radius, Finger clinodactyly, Ventricular septal... |
OMIM:142900 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Trisomy 13 |
|
Narrow chest, Ectrodactyly, Kyphosis, Atrial septal defect, Abnormal retinal vascular morphology,... |
ORPHA:3378 |
Fibrochondrogenesis 1 |
|
Short neck, Platyspondyly, Rhizomelia, Dumbbell-shaped long bone, Posterior rib cupping, Short lo... |
OMIM:228520 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Pectus excavatum, Platyspondyly, Scoliosis, Pectus carinatum, Short lower limbs, Beaded... |
OMIM:259440 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, Hemivertebrae, Brachydactyly, Scoliosis, Abnormal form of the vertebral bodies,... |
ORPHA:2180 |
Pontine Tegmental Cap Dysplasia |
|
Failure to thrive, Rib fusion, Hemivertebrae, Scoliosis |
OMIM:614688 |
Alagille Syndrome |
|
Short distal phalanx of finger, Vertebral segmentation defect, Failure to thrive, Clinodactyly of... |
ORPHA:52 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Kyphoscoliosis, Cardiomegaly, Macroorchidism |
OMIM:300886 |
Phaver Syndrome |
|
Butterfly vertebrae, Broad hallux phalanx, Camptodactyly of finger, Abnormal form of the vertebra... |
ORPHA:2876 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Platyspondyly, Pectus carinatum, Retinal dystrophy, Ventricular septal defect, Short long bone, S... |
OMIM:263520 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Short clavicles, Rod-cone dystrophy, Short ribs, Short humerus, Short neck, Short femoral neck, S... |
OMIM:610319 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Hypoplasia of the ulna, Hypoplastic pelvis, R... |
ORPHA:2616 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Beaking of vertebral bodies, Kyphoscoliosis, Hepatomegaly, Rod-cone dystrophy, Sp... |
OMIM:252930 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Un... |
OMIM:118100 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Platyspondyly, Hyposegmentation of neutrophil nuclei, Broad hallux, Genu valgum, ... |
OMIM:618019 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Hepatomegaly, Horizontal sacrum, Barrel-shaped chest, Platy... |
OMIM:215140 |
Cardiospondylocarpofacial Syndrome |
|
Rib fusion, Carpal synostosis, Failure to thrive, Atrial septal defect, Muscular ventricular sept... |
OMIM:157800 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Platyspondyly, Short neck, Abnormal epiphysis morphology, Short long bone, Thoracic hypoplasia, M... |
ORPHA:93352 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Hypoplasia of penis, Micromelia, Abnormal rib morphology, Ventricular sep... |
ORPHA:2772 |
Cenani-Lenz Syndrome |
|
Renal hypoplasia/aplasia, Finger syndactyly, Hypoplasia of the radius, Micromelia, Synostosis of ... |
ORPHA:3258 |
Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Hepatomegaly, Splenomegaly, Scoliosis, Ovoid thoracolumbar vertebrae, Heparan sul... |
OMIM:252900 |
Vacterl/Vater Association |
|
Vertebral segmentation defect, Abnormal cardiac septum morphology, Finger syndactyly, Hypoplasia ... |
ORPHA:887 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Thin ... |
OMIM:300863 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Abnormal rib morphology, Chorioretinal coloboma |
OMIM:300864 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Rib fusion, Clinodactyly of the 5th finger, Tapered toe, Tapered finger, Large for gestational ag... |
ORPHA:544488 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Cone-shaped epiphyses of the phalanges of the hand, Broad phalanx, Anterior wedging of T11, Platy... |
OMIM:300106 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Cone-shaped epiphyses of the phalanges of the hand, Short neck, 11 pairs of ribs, Platyspondyly, ... |
OMIM:250220 |
Pallister-Hall Syndrome |
|
Atrioventricular canal defect, Hemivertebrae, Ventricular septal defect, Large for gestational ag... |
ORPHA:672 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... |
ORPHA:730 |
Lethal Kniest-Like Dysplasia |
|
Narrow chest, Hypoplastic vertebral bodies, Atrial septal defect, Talipes equinovarus, Short ribs... |
ORPHA:2347 |
Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Cherry red spot of the macula, Splenomegaly, Urinary excret... |
OMIM:256550 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Nephroblastoma, Scoliosis, Abnormality of the lymphatic system, Ovarian serous ... |
ORPHA:276280 |
Sillence Syndrome |
|
Platyspondyly, Large tarsal bones, Slender build, Back pain, Chess-pawn distal phalanges, Aplasia... |
ORPHA:3168 |
Zttk Syndrome |
|
Rib fusion, Kyphosis, Failure to thrive, Atrial septal defect, Small hand, Hemivertebrae, Unilate... |
OMIM:617140 |
Brachytelephalangic Chondrodysplasia Punctata |
|
C1-C2 subluxation, Ventricular septal defect, Epiphyseal stippling of toe phalanges, Cervical ver... |
ORPHA:79345 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
Attrv30M Amyloidosis |
|
Abnormal renal physiology, Nephropathy, Vitreous floaters, Weight loss, Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Tapered toe, Hepatomegaly, Lipid accumulation in hepatocytes, Long-chain dicarboxylic aciduria, H... |
OMIM:608836 |
Fibrochondrogenesis |
|
Narrow chest, Short ribs, Camptodactyly of finger, Short neck, Micromelia, Brachydactyly, Abnorma... |
ORPHA:2021 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal rib morphology, Hypospadias, Abnormal clavicle morphology, Tetralogy of Fallot |
ORPHA:276422 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Chronic tubulointerstitial nephritis, Nephrono... |
OMIM:602088 |
Hurler Syndrome |
|
Spinal canal stenosis, Abnormal clavicle morphology, Hepatomegaly, Splenomegaly, Retinopathy, Cam... |
ORPHA:93473 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord... |
OMIM:184253 |
Acromesomelic Dysplasia 4 |
|
Broad phalanx, Prominent sternum, Platyspondyly, Broad finger, Genu valgum, Rhizomelia, Sandal ga... |
OMIM:619636 |
Achondrogenesis Type 1B |
|
Narrow chest, Talipes equinovarus, Short neck, Micromelia, Abnormal rib morphology, Short thorax,... |
ORPHA:93298 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Short neck, Micromelia, Cystic renal dysplasia, Enlarged kidne... |
OMIM:200995 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Narrow chest, Short ribs, Hypoplasia of the radius, Hypoplastic ilia, Postaxial polydactyly, Micr... |
OMIM:617895 |
Multiple Synostoses Syndrome 1 |
|
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalang... |
OMIM:186500 |
Mucolipidosis Iii Alpha/Beta |
|
Irregular carpal bones, Retinal degeneration, Soft tissue swelling of interphalangeal joints, Sho... |
OMIM:252600 |
Becker Nevus Syndrome |
|
Pectus excavatum, Hemivertebrae, Scoliosis, Unilateral breast hypoplasia, Cervical ribs |
OMIM:604919 |
Craniofaciofrontodigital Syndrome |
|
Pectus excavatum, Hypoplastic vertebral bodies, Palmoplantar cutis laxa, Short neck, Hypoplastic ... |
OMIM:114620 |
Kniest-Like Dysplasia, Lethal |
|
Narrow chest, Metaphyseal irregularity, Hypoplastic vertebral bodies, Atrial septal defect, Talip... |
OMIM:245190 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Pectus excavatum, Short sternum, Hepatomegaly, Hepatoblastoma, 2-3 finger syndactyly, Pectus cari... |
OMIM:312870 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Arachnodactyly, Hemivertebrae, Abnormal form of the vertebral bod... |
ORPHA:2759 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Scoliosis, Cardiomegaly |
OMIM:618654 |
Ellis-Van Creveld Syndrome |
|
Narrow chest, Acetabular spurs, Atrial septal defect, Talipes equinovarus, Short ribs, Cone-shape... |
OMIM:225500 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Ventricular septal defect, Pulmonary valve atresia, Parachute mitr... |
OMIM:265380 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Anterior hypopituitarism, Central diabetes insipidus, Abnormal vertebral... |
ORPHA:280195 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Pectus excavatum, Eunuchoid habitus, Thin ribs, Arachnodactyly, Thin metatarsal cortices, Increas... |
ORPHA:2463 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Unilateral renal agenesis, Renal agenesis, Abnormality of the vertebral column,... |
OMIM:601076 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly, Neutropenia |
ORPHA:2643 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal sternum morphology, Atrial septal defect, Supernumerary nipple, Short ribs, Micropenis, ... |
ORPHA:2519 |
Frontometaphyseal Dysplasia 1 |
|
Increased density of long bone diaphyses, Genu valgum, Partial fusion of tarsals, Bowing of the l... |
OMIM:305620 |
Acro-Renal-Mandibular Syndrome |
|
Sprengel anomaly, Kyphosis, Abnormal clavicle morphology, Butterfly vertebrae, Renal hypoplasia/a... |
ORPHA:958 |
Osteogenesis Imperfecta, Type Ii |
|
Tibial bowing, Thin ribs, Small for gestational age, Platyspondyly, Crumpled long bones, Bell-sha... |
OMIM:166210 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal cardiac septum morphology, Ureteral obstruction, Bowing of the long bones, Elbow disloca... |
ORPHA:90652 |
Cooper-Jabs Syndrome |
|
Abnormal hip bone morphology, Camptodactyly of finger, Scoliosis, Abnormal rib morphology, Ventri... |
ORPHA:1488 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal hip bone morphology, Short neck, Abnormal form of the vertebral bodies, Slender long bon... |
ORPHA:1486 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Atrial septal defect, Hepatomegaly, Thin ribs, Long clavicles, Splenomegaly, Pulm... |
OMIM:608149 |
Hypophosphatasia |
|
Narrow chest, Abnormal rib morphology, Bowing of the long bones, Abnormal metaphysis morphology, ... |
ORPHA:436 |
Achondrogenesis, Type Ia |
|
Hypoplastic sacrum, Hypoplasia of the radius, Barrel-shaped chest, Short neck, Micromelia, Talipe... |
OMIM:200600 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Optic disc coloboma, Ventricular septal defect, Optic atrophy, Optic disc pallo... |
OMIM:607872 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Narrow chest, Short distal phalanx of finger, Hepatomegaly, Thin ribs, Triangular shaped distal p... |
ORPHA:73230 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Syndactyly, Cardiomegaly |
OMIM:613576 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormality of the upper urinary tract, Abnormality of the urethra, Brachydactyly, Micromelia, Ab... |
ORPHA:2145 |
Dextrocardia |
|
Abnormality of the ureter, Congenital hip dislocation, Abnormality of the spleen, Abnormal renal ... |
ORPHA:1666 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Optic atrophy, Papilledema, Diaphyseal sclerosis |
OMIM:122860 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... |
ORPHA:891 |
Holzgreve Syndrome |
|
Renal hypoplasia/aplasia, Abnormal morphology of ulna, Hand polydactyly, Abnormally ossified vert... |
ORPHA:2167 |
Achondrogenesis, Type Ii |
|
Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Absent vertebral body mineraliz... |
OMIM:200610 |
Radio-Renal Syndrome |
|
Renal hypoplasia/aplasia, Hypoplasia of the radius, Renal agenesis, Short neck, Micromelia, Brach... |
ORPHA:3015 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Metacarpophalangeal joint hyperextensibility, Short neck, 11 pairs of ribs, Platyspondyly, Pectus... |
OMIM:245600 |
Acrorenal-Mandibular Syndrome |
|
Absent nipple, Aplasia of the bladder, Hypoplasia of the radius, Hemivertebrae, Abnormality of th... |
OMIM:200980 |
Three M Syndrome 2 |
|
Lumbar hyperlordosis, Thin ribs, Small for gestational age, Short neck, Short 5th finger, Pectus ... |
OMIM:612921 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Delayed proximal femoral epiphyseal ossification, Short neck, 11 pairs of ribs, Platyspondyly, Ve... |
OMIM:271640 |
Thanatophoric Dysplasia, Type I |
|
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... |
OMIM:187600 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Failure to thrive, Short ribs, Postaxial polydactyly, Pancreatic ... |
OMIM:615503 |
Achondrogenesis Type 1A |
|
Narrow chest, Multiple rib fractures, Short neck, Micromelia, Short thorax, Short foot, Short palm |
ORPHA:93299 |
Dysosteosclerosis |
|
Narrow chest, Irregular vertebral endplates, Abnormal metaphyseal trabeculation, Short sternum, H... |
OMIM:224300 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... |
OMIM:617604 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Abnormal retinal morphology on macular OCT, Macroscopic hematuria, Mem... |
ORPHA:251004 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Ventricular septal defect, Patent urachus, Unilateral cryptorchidism, Hepatopulm... |
OMIM:618280 |
Osteogenesis Imperfecta, Type Xvi |
|
Narrow chest, Short long bone, Multiple rib fractures, Small for gestational age, Platyspondyly, ... |
OMIM:616229 |
Mosaic Trisomy 9 |
|
Abnormal liver lobulation, Hemivertebrae, Short neck, Micromelia, Finger clinodactyly, Ventricula... |
ORPHA:99776 |
Alg9-Cdg |
|
Hepatomegaly, Short neck, Hypoplasia of the bladder, Enlarged kidney, Ventricular septal defect, ... |
ORPHA:79328 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Splenomegaly, ... |
OMIM:232220 |
Renpenning Syndrome |
|
Sprengel anomaly, Clinodactyly of the 5th finger, Pectus excavatum, Cachexia, Hypospadias, Abnorm... |
ORPHA:3242 |
Grant Syndrome |
|
Sprengel anomaly, Narrow chest, Abnormality of the glenoid fossa, Abnormal rib morphology, Bowing... |
ORPHA:2097 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... |
OMIM:305390 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Pectus excavatum, Hypoplasia of the radius, Short neck, Hypoplasia of the ulna, Horseshoe kidney,... |
OMIM:609945 |
Gracile Bone Dysplasia |
|
Failure to thrive, Thin ribs, Micropenis, Flared metaphysis, Brachydactyly, Slender long bone, Hy... |
OMIM:602361 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Short neck, Ventricular septal defect, Short long bone, Short ribs, Splenomegaly, B... |
OMIM:269860 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Narrow chest, Abnormal scapula morphology, Cone-shaped epiphysis, Iliac crest serration, Platyspo... |
ORPHA:93317 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Rhizo... |
ORPHA:163966 |
Cartilage-Hair Hypoplasia |
|
Prominent sternum, Femoral bowing, Macrocytic anemia, Scoliosis, Anemia, Hypoplasia of the odonto... |
OMIM:250250 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Flexion contracture of finger, Hepatomegaly, Cervical lymphadenopathy, Pancreatic hypoplasia, Ven... |
OMIM:602782 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Cardiomegaly |
ORPHA:88643 |
Mucopolysaccharidosis, Type Vi |
|
Prominent sternum, Hepatomegaly, Pectus carinatum, Genu valgum, Broad ribs, Ovoid vertebral bodie... |
OMIM:253200 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Dextrocardia, Cervical ribs, Situs inversus totalis |
ORPHA:66630 |
Mulibrey Nanism |
|
Myocardial fibrosis, Hepatomegaly, Nephroblastoma, Pigmentary retinopathy, Single transverse palm... |
OMIM:253250 |
Retinal Venous Beading |
|
Vitreous hemorrhage, Nephritis, Retinal neovascularization, Neutropenia, Retinal infarction, Abno... |
OMIM:180080 |
Attrv122I Amyloidosis |
|
Spinal canal stenosis, Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Le... |
ORPHA:85451 |
Simpson-Golabi-Behmel Syndrome |
|
Pectus excavatum, Hepatomegaly, Hepatoblastoma, Congenital hip dislocation, Short neck, Ventricul... |
ORPHA:373 |
Steinfeld Syndrome |
|
Unilateral renal dysplasia, Hypoplasia of the radius, Retinal coloboma, Abnormality of the verteb... |
OMIM:184705 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... |
ORPHA:90301 |
Basal Cell Nevus Syndrome |
|
Hemivertebrae, Down-sloping shoulders, Vertebral wedging, Ovarian carcinoma, Sprengel anomaly, Sh... |
OMIM:109400 |
Timothy Syndrome |
|
Cutaneous syndactyly, Syndactyly, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ... |
OMIM:601005 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Decreased body weight, Thin ribs, Brachydactyly, Hydronephrosis, Vesicoureteral reflux |
OMIM:618265 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Micropenis, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of... |
OMIM:612447 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology |
ORPHA:1506 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Ventricula... |
OMIM:274000 |
Sickle Cell Anemia |
|
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Retinopathy, Hematuria, Hemolytic anemi... |
OMIM:603903 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Unilateral chest hypoplasia, Unilateral renal agenesis, Abnormality of the vertebral column, Scol... |
OMIM:308205 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Rib fusion, Kyphoscoliosis, Lumbar hyperlordosis, Atrial septal defect, Absent thumb, Arachnodact... |
ORPHA:500150 |
Refsum Disease, Classic |
|
Retinal degeneration, Rod-cone dystrophy, Short fourth metatarsal, Abnormal renal physiology, Car... |
OMIM:266500 |
Kyphomelic Dysplasia |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Short metacarpal, Short femur, Undulate ribs, ... |
OMIM:211350 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Broad phalanx, Pectus excavatum, Platyspondyly, Micromelia, C1-C2 subluxation, Hip subluxation, P... |
OMIM:271665 |
Mosaic Trisomy 8 |
|
Narrow chest, Vertebral segmentation defect, Clinodactyly of the 5th finger, Deep palmar crease, ... |
ORPHA:96061 |
Gm1 Gangliosidosis Type 1 |
|
Broad metacarpals, Flattened femoral head, Hypoplastic vertebral bodies, Flared iliac wing, Cherr... |
ORPHA:79255 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Kyphoscoliosis, Aortic valve stenosis, Mitral valve prolapse, Abnormal thumb morphology, Abnormal... |
ORPHA:324410 |
Microcephaly-Micromelia Syndrome |
|
Narrow chest, Forearm undergrowth, Talipes equinovarus, Abnormality of the hand, Short tibia, Sho... |
OMIM:251230 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Pancreatitis, Urethritis, Lymphadenitis, Ureteral obstruction, Hematu... |
ORPHA:449395 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... |
OMIM:133780 |
Trisomy 1Q |
|
Congenital megaureter, Arachnodactyly, Camptodactyly of finger, Multicystic kidney dysplasia, Abn... |
ORPHA:261344 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Stenosis of the medullary cavity of the long bones, T... |
ORPHA:93324 |
Cleidocranial Dysplasia |
|
Narrow chest, Coxa vara, Short clavicles, Clinodactyly of the 5th finger, Down-sloping shoulders,... |
ORPHA:1452 |
Opsismodysplasia |
|
Short neck, Rhizomelia, Severe platyspondyly, Posterior rib cupping, Short long bone, Renal phosp... |
OMIM:258480 |
Kenny-Caffey Syndrome, Type 1 |
|
Thin ribs, Long clavicles, Congenital hypoparathyroidism, Thin clavicles, Small hand, Slender lon... |
OMIM:244460 |
Vater/Vacterl Association |
|
Hypoplasia of the radius, Radioulnar synostosis, Ventricular septal defect, Patent urachus, Scoli... |
OMIM:192350 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney, Weight loss, Clubbing |
ORPHA:79128 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Hepatomegaly, Endocardial fibroelastosis, Decreased carnitine level in liver, ... |
OMIM:212140 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Distal upper limb muscle weakness, Spinal rigidity, Right ventricular hypertrophy, Limited elbow ... |
ORPHA:268 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Long hallux, Decreased body weight, Delayed tarsal ossification,... |
OMIM:600002 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Failure to thrive, Anomalo... |
ORPHA:860 |
Multiple Pterygium Syndrome, X-Linked |
|
Hypoplastic heart, Thin ribs, Abnormal cervical curvature, Vertebral fusion, Short finger |
OMIM:312150 |
Alagille Syndrome 1 |
|
Exocrine pancreatic insufficiency, Hemivertebrae, Reduced number of intrahepatic bile ducts, Chol... |
OMIM:118450 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification... |
OMIM:241530 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum |
OMIM:602196 |
H Syndrome |
|
Histiocytosis, Micropenis, Abnormality of the kidney, Hepatosplenomegaly, Enlarged kidney, Campto... |
ORPHA:168569 |
Osteogenesis Imperfecta, Type X |
|
Narrow chest, Nephrolithiasis, Thin ribs, Platyspondyly, Micromelia, Scoliosis, Genu valgum, Broa... |
OMIM:613848 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Secondary hyperparathyroidism, Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorp... |
OMIM:264700 |
Myhre Syndrome |
|
Cone-shaped epiphysis, Short neck, Platyspondyly, Ventricular septal defect, Broad ribs, Short lo... |
OMIM:139210 |
Townes-Brocks Syndrome |
|
Abnormal cardiac septum morphology, Ulnar deviation of finger, Absent toe, Clinodactyly of the 5t... |
ORPHA:857 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elbow ankylosis, Femoral bowing, Radioulnar synostosis, Bowing of the long bones, Rocker bottom f... |
ORPHA:95699 |
Meier-Gorlin Syndrome 1 |
|
Absent glenoid fossa, Hemivertebrae, Pectus carinatum, Genu valgum, Elbow dislocation, Absent ste... |
OMIM:224690 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Scoliosis, Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Multicystic kidney dysplasia, Abnormal rib morphology, Optic atrop... |
ORPHA:3301 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Failure to thrive, Atrial septal defect, Methylmalonic aciduria, Homocystinuria, Bell-shaped thor... |
OMIM:614857 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Splenomegaly, Fused cervical vertebrae, Flaring of rib cage, Broad ri... |
OMIM:612852 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Clinodactyly of the 5th finger, Hypoplasia of penis, Abnormal hip bone morphology, Pectus carinat... |
ORPHA:3068 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Abnormality of the palmar creases, Ventricular septal defect, Patent forame... |
OMIM:618652 |
Van Den Ende-Gupta Syndrome |
|
Pectus excavatum, Femoral bowing, Tapered finger, Glenoid fossa hypoplasia, Long metacarpals, Sac... |
OMIM:600920 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Prominent floating ribs, Intestinal lymphangiectasia |
OMIM:152800 |
Ogden Syndrome |
|
Hydrocele testis, Pectus excavatum, Congenital hip dislocation, Short neck, Enlarged kidney, Vent... |
OMIM:300855 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Cholestasis, Pulmonic valve myxoma, Jaundice, Cardiomegaly, Cardiac myxoma |
ORPHA:615 |
Tyrosinemia, Type I |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated urin... |
OMIM:276700 |
Eales Disease |
|
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... |
ORPHA:40923 |
Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Bowing of th... |
ORPHA:2050 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Kyphoscoliosis, Short ribs, Elbow flexion contracture, Cupped ribs, Cryptorchidism, Interphalange... |
ORPHA:1145 |
Xylt1-Cdg |
|
Short clavicles, Hepatomegaly, Flared metaphysis, Short femoral neck, Truncal obesity, Broad thum... |
ORPHA:370930 |
Developmental And Epileptic Encephalopathy 95 |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Hepatomegaly, Short fourth metata... |
OMIM:618143 |
Multiple Pterygium Syndrome, Lethal Type |
|
Hypoplastic heart, Thin ribs, Abnormal cervical curvature, Vertebral fusion, Short finger |
OMIM:253290 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Prominent sternum, Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Barrel-shaped chest... |
OMIM:276820 |
Osteogenesis Imperfecta |
|
Abnormality of femur morphology, Pectus excavatum, Femoral bowing, Micromelia, Biconcave vertebra... |
ORPHA:666 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Lymphopenia, Hepatomegaly, Diffuse mesangial sclerosis, Splenomegaly, Horizont... |
OMIM:102700 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreatic cysts, Sta... |
ORPHA:731 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Lymphadenitis, Congenital thrombocytopenia, Proteinuria, Acute kidney injury, Anemi... |
OMIM:618886 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Fucosidosis |
|
Kyphosis, Failure to thrive, Hepatomegaly, Anterior beaking of lumbar vertebrae, Abnormality of t... |
ORPHA:349 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Cardiomyopat... |
OMIM:235200 |
Mogs-Cdg |
|
Hydrocele testis, Thoracic scoliosis, Atrial septal defect, Hepatomegaly, Left ventricular hypert... |
ORPHA:79330 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Hepatomegaly, Hepatoblastoma, ... |
ORPHA:96334 |
Mucopolysaccharidosis Type 3 |
|
Abnormal mitral valve morphology, Abnormal clavicle morphology, Hepatomegaly, Retinal degeneratio... |
ORPHA:581 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Femoral bowing, Short 1st metacarpal, 11 pairs of ribs, Pectu... |
OMIM:114290 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Finger joint hypermobility, P... |
ORPHA:363705 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Short sternum, Hepatoblastoma, Short 1st metacarpal, Splenopancreatic fusion, Short neck, Single ... |
OMIM:269150 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Narrow chest, Short clavicles, Hepatomegaly, Splenomegaly, Short ribs, Atrioventricular canal def... |
OMIM:617088 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Hepatocellular... |
OMIM:232200 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Asymmetry of the thorax, Thin ribs, Epiphyseal streaking, Clinodactyly of the 4th toe, Limited el... |
OMIM:604922 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly |
OMIM:619064 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Kyphosis, Pectus excavatum, Talipes equinovarus, Arachnodactyly, Camptodactyly of finger, Scolios... |
ORPHA:2215 |
Hyperparathyroidism, Transient Neonatal |
|
Narrow chest, Femoral bowing, Thin ribs, Short ribs |
OMIM:618188 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Small for gestational age, Coat hanger sign of ribs, Ventricular septal defect, Large for gestati... |
ORPHA:254534 |
Mucopolysaccharidosis, Type Iiid |
|
Thickened ribs, Epiphyseal dysplasia, Thoracic scoliosis, Hepatomegaly, Hypoplastic vertebral bod... |
OMIM:252940 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Hepatomegaly, Hepatoblastoma, Renal cortical cysts, Pancreatic hyperplasia, Neph... |
OMIM:130650 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... |
OMIM:193235 |
Schwartz-Jampel Syndrome |
|
Pectus excavatum, Abnormally ossified vertebrae, Abnormality of the ureter, Short neck, Micromeli... |
ORPHA:800 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular car... |
ORPHA:465508 |
Monosomy 9Q22.3 |
|
Kyphosis, Pectus excavatum, Retinopathy, Short neck, Abnormality of the vertebral column, Polydac... |
ORPHA:77301 |
Sclerosteosis 1 |
|
Cortically dense long tubular bones, Papilledema, 2-3 finger syndactyly, Syndactyly, Broad clavic... |
OMIM:269500 |
X-Linked Hypophosphatemia |
|
Renal phosphate wasting, Bowing of the legs, Trapezoidal distal femoral condyles, Flared iliac wi... |
ORPHA:89936 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Broad femoral neck, Short tubular bones of the hand, Vertebral arch anomaly, Broad ribs, Overtubu... |
ORPHA:85184 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Abnormality of the hepatic vasculature, Abnormal retinal vascular morphology, Macular edema, Avas... |
ORPHA:247691 |
Proteus Syndrome |
|
Lymphangioma, Ovarian neoplasm, Neoplasm of the thymus, Sirenomelia, Long penis, Retinal nonattac... |
ORPHA:744 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Tibial bowing, Thin ribs, Biconcave vertebral bodies, Scoliosis, Slender long bone, Pro... |
OMIM:259420 |
8P11.2 Deletion Syndrome |
|
Atrial septal defect, Talipes equinovarus, Spherocytosis, Splenomegaly, Hypoplasia of penis, Reti... |
ORPHA:251066 |
Myhre Syndrome |
|
Abnormal cardiac septum morphology, Large iliac wing, Abnormal penis morphology, Hypospadias, Abn... |
ORPHA:2588 |
Idiopathic Pulmonary Hemosiderosis |
|
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Glomerulonephritis, ... |
ORPHA:99931 |
Beckwith-Wiedemann Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Enlarged kidney, Large for gesta... |
ORPHA:116 |
Aspergillosis |
|
Abnormality of the kidney, Eosinophilia, Abnormality of the vertebral column, Abnormal rib morpho... |
ORPHA:1163 |
Cerebrocostomandibular Syndrome |
|
Calcaneal epiphyseal stippling, Clinodactyly of the 5th finger, Rib gap, Anomalous rib insertion ... |
OMIM:117650 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow chest, Narrow greater sciatic notch, Short ribs, Postaxial polydactyly, Preaxial polydacty... |
OMIM:617925 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Macrovesicular hepatic steatosis, Cardiomegaly |
OMIM:600649 |
Occipital Horn Syndrome |
|
Narrow chest, Kyphosis, Short clavicles, Pectus excavatum, Coxa valga, Bladder diverticulum, Shor... |
OMIM:304150 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Clinodactyly of the 5th finger, Scoliosis, Abnormal form of the vertebral bodies, Aplas... |
ORPHA:2769 |
Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Congenital hip dislocation, Abnormal rib morphology, Missing ribs... |
ORPHA:1647 |
Yunis-Varon Syndrome |
|
Slender long bones with narrow diaphyses, Absent thumb, Tapered finger, Ventricular septal defect... |
ORPHA:3472 |
Hsd10 Disease, Infantile Type |
|
Retinal degeneration, Rod-cone dystrophy, Abnormal concentration of acylcarnitine in the urine, A... |
ORPHA:391428 |
Smith-Lemli-Opitz Syndrome |
|
Atrioventricular canal defect, Short neck, Ulnar deviation of finger, Optic atrophy, Ventricular ... |
ORPHA:818 |
Weill-Marchesani Syndrome 1 |
|
Broad metacarpals, Spinal canal stenosis, Lumbar hyperlordosis, Aortic valve stenosis, Pulmonic s... |
OMIM:277600 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Femoral bowing, Biconcave vertebral bodies, Vertebral compression fracture, Bowing of ... |
OMIM:617952 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Tibial bowing, Radial bowing, Thin ribs, Femoral retroversion, Femoral bowing, Barrel-s... |
OMIM:610915 |
Cranioectodermal Dysplasia 2 |
|
Pectus excavatum, Hepatomegaly, Short neck, Cholestasis, Rhizomelia, Bile duct proliferation, Por... |
OMIM:613610 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Thin ribs, Micropenis, Glandular hypospadias, Penile hypospadias, Penoscrotal hypospadias, Crypto... |
ORPHA:456328 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Dislocated radial head, Pectus excavatum, Talipes equinovarus, Joint contracture of the hand, Thi... |
OMIM:182212 |
Antley-Bixler Syndrome |
|
Narrow chest, Elbow ankylosis, Arachnodactyly, Femoral bowing, Camptodactyly of finger, Abnormal ... |
ORPHA:83 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Hepatocellular necrosis, Pectus excavatum, Hepatomegaly, Micro... |
OMIM:618278 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal mitral valve morphology, Heparan sulfate excretion in urine, Optic atrophy, Increased si... |
ORPHA:217085 |
Proteus-Like Syndrome |
|
Splenomegaly, Abnormality of the parathyroid gland, Retinal detachment, Thymus hyperplasia, Polyc... |
ORPHA:2969 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrolithiasis, Failure to thrive, Hepatomegaly, Pancreatitis, Abnormal myeloid leukocyte morpho... |
ORPHA:79259 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal mitral valve morphology, Heparan sulfate excretion in urine, Optic atrophy, Increased si... |
ORPHA:217093 |
Renal Dysplasia-Limb Defects Syndrome |
|
Aplasia of the ulna, Short sternum, Talipes equinovarus, Thin ribs, Short ribs, Hypoplasia of the... |
OMIM:266910 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow chest, Short ribs, Postaxial polydactyly, Preaxial polydactyly, Bell-shaped thorax, Hypopl... |
OMIM:616300 |
Stuve-Wiedemann Syndrome 1 |
|
Femoral bowing, Short neck, Ulnar deviation of finger, Single transverse palmar crease, Contractu... |
OMIM:601559 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Scoliosis, Abnormal rib morphology, Split hand, Cryptorchidism, Finger syndactyly, Toe syndactyly |
ORPHA:1300 |
Pagod Syndrome |
|
Abnormal clavicle morphology, Renal hypoplasia/aplasia, Hypoplastic left heart, Multicystic kidne... |
ORPHA:991 |
Fibrous Dysplasia Of Bone |
|
Abnormality of femur morphology, Coxa vara, Abnormal clavicle morphology, Elevated circulating gr... |
ORPHA:249 |
Gaucher Disease, Type Iiic |
|
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... |
OMIM:231005 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cachexia, Dicarboxylic aciduria, Elevated urinary 3-hydroxybutyric acid, Hepatic st... |
ORPHA:42 |
Ulbright-Hodes Syndrome |
|
Aplasia/Hypoplasia of the ulna, Short sternum, Talipes equinovarus, Thin ribs, Short ribs, Hypopl... |
ORPHA:3404 |
Pyknoachondrogenesis |
|
Enlarged thorax, Abnormal iliac wing morphology, Unossified sacrum, Short ribs, Micromelia, Hypop... |
ORPHA:3003 |
Fryns Syndrome |
|
Prominent fingertip pads, Short neck, Ventricular septal defect, Single transverse palmar crease,... |
OMIM:229850 |
Craniometadiaphyseal Dysplasia |
|
Flared metaphysis, Scoliosis, Genu varum, Genu valgum, Broad ribs, Cubitus valgus, Broad long bon... |
OMIM:269300 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... |
ORPHA:3092 |
Craniotubular Dysplasia, Ikegawa Type |
|
Optic neuropathy, Metaphyseal dysplasia, Increased intervertebral space, Platyspondyly, Broad fem... |
OMIM:619727 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... |
OMIM:193220 |
Gaucher Disease, Perinatal Lethal |
|
Decreased body weight, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, ... |
OMIM:608013 |
Carnitine Palmitoyltransferase I Deficiency |
|
Renal tubular acidosis, Hepatic steatosis, Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Pectus excavatum, Thin ribs, Platyspondyly, Narrow iliac wing |
OMIM:616294 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Distal shortening of limbs, Micropenis, Small hand, Short neck, Broad femoral neck, Spina bifida ... |
ORPHA:488434 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Dicarboxylic aciduria, Exercise-induc... |
OMIM:201475 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Cholelithiasis, Broad metacarpals, Hepatomegaly, Talipes equinovarus, Hepatosplenomegaly, Tapered... |
OMIM:301066 |
Trisomy 18 |
|
Abnormality of retinal pigmentation, Atrial septal defect, Abnormal hip bone morphology, Cachexia... |
ORPHA:3380 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Abnormal cardiac septum morphology, Annular pancreas, Pectus excavatum, Metacarpo... |
ORPHA:97297 |
Osteopathia Striata With Cranial Sclerosis |
|
Failure to thrive, Pectus excavatum, Atrial septal defect, Clinodactyly of the 5th finger, Talipe... |
OMIM:300373 |
Lethal Acantholytic Erosive Disorder |
|
Clinodactyly of the 5th finger, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyl... |
ORPHA:158687 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Multiple rib fractures, Optic atrophy, Optic nerve compression, Anemi... |
OMIM:612301 |
Isolated Anencephaly |
|
Thymus hyperplasia |
ORPHA:563609 |
Autosomal Recessive Malignant Osteopetrosis |
|
Narrow chest, Abnormal pulmonary valve morphology, Hepatomegaly, Splenomegaly, Abnormal rib morph... |
ORPHA:667 |
Osteogenesis Imperfecta, Type Vii |
|
Narrow chest, Coxa vara, Bowing of the legs, Pectus excavatum, Multiple rib fractures, Femoral re... |
OMIM:610682 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... |
ORPHA:439 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... |
OMIM:115197 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Amyloid deposition in the vitreous humor, Cardiomyopathy, Cardiomegaly, Urinary incontinence |
OMIM:105210 |
Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Hepatomegaly, Thin ribs, Abnormal renal corticomedullary different... |
OMIM:617397 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Hepatic calcification, Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Dica... |
ORPHA:228308 |
Weill-Marchesani Syndrome 2 |
|
Broad metacarpals, Spinal canal stenosis, Lumbar hyperlordosis, Aortic valve stenosis, Pulmonic s... |
OMIM:608328 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Overlapping toe, Flexion contracture of finger, Pectus excavatum, Prominent sternum, Coat hanger ... |
ORPHA:254528 |
Osteopetrosis With Renal Tubular Acidosis |
|
Secondary hyperparathyroidism, Failure to thrive, Nephrolithiasis, Pectus excavatum, Hepatomegaly... |
ORPHA:2785 |
Danon Disease |
|
Myocardial fibrosis, Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ca... |
OMIM:300257 |
Leigh Syndrome With Nephrotic Syndrome |
|
Nephrotic syndrome, Renal tubular acidosis, Renal cyst, Tubulointerstitial nephritis, Cardiomegal... |
ORPHA:255249 |
Shwachman-Diamond Syndrome 2 |
|
Metaphyseal irregularity, Exocrine pancreatic insufficiency, Failure to thrive, Hepatomegaly, Met... |
OMIM:617941 |
Myotubular Myopathy With Abnormal Genital Development |
|
Thin ribs, Micropenis, Hypospadias, Unilateral cryptorchidism, Glandular hypospadias, Penile hypo... |
OMIM:300219 |
Charge Syndrome |
|
Hemivertebrae, Down-sloping shoulders, Ventricular septal defect, Hypoplasia of the ulna, Horsesh... |
OMIM:214800 |
Constricting Bands, Congenital |
|
Talipes equinovarus, Abnormal rib cage morphology, Syndactyly, Scoliosis, Bladder exstrophy, Ecto... |
OMIM:217100 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Failure to thrive, Chordee, Proximal symphalangism of hands, Hyperextensibility of the finger joi... |
OMIM:151050 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... |
ORPHA:2041 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Overlapping toe, Failure to thrive, Hepatomegaly, Thin ribs, Long clavicles, Arac... |
ORPHA:83617 |
Sandhoff Disease |
|
Hepatomegaly, Cherry red spot of the macula, Hepatosplenomegaly, Cardiomegaly, Urinary incontinence |
OMIM:268800 |
Coccidioidomycosis |
|
Pancreatitis, Abnormality of the kidney, Eosinophilia, Peritonitis, Abnormality of the spleen, Me... |
ORPHA:228123 |
Leprechaunism |
|
Failure to thrive, Decreased body weight, Hepatomegaly, Hypercalciuria, Enlarged kidney, Long pen... |
ORPHA:508 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Slender build, Left ventricular noncompaction cardiomyopathy, Synostosis of the proximal phalanx ... |
OMIM:300967 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Hepatoblastoma, Streak ovary, Short 1st metacarpal, Abnormality of ... |
ORPHA:798 |
Autosomal Dominant Centronuclear Myopathy |
|
Thin ribs, Large for gestational age, Proximal muscle weakness in upper limbs, Cryptorchidism, Ur... |
ORPHA:169189 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Decreased fibular diameter, Pectus excavatum, Hepatomegaly, Thin ribs, Elevated hemoglobin A1c, L... |
OMIM:619127 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Abetalipoproteinemia |
|
Failure to thrive, Kyphoscoliosis, Abnormality of retinal pigmentation, Hepatomegaly, Talipes equ... |
ORPHA:14 |
Severe Congenital Nemaline Myopathy |
|
Thin ribs, Adducted thumb, Micropenis, Hypospadias, Abnormal thorax morphology |
ORPHA:171430 |
Lethal Congenital Contracture Syndrome 5 |
|
Retinal hemorrhage, Thin ribs, Small for gestational age |
OMIM:615368 |
Williams Syndrome |
|
Cholelithiasis, Abnormal cardiac septum morphology, Pectus excavatum, Down-sloping shoulders, Rad... |
ORPHA:904 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Decreased body weight, Thin ribs |
OMIM:614833 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Increased hepatic glycogen content, Optic atrophy, 3-Methylglutaconic aciduria, Cardiomyopathy, C... |
OMIM:619259 |
Generalized Arterial Calcification Of Infancy |
|
Cortical nephrocalcinosis, Medullary nephrocalcinosis, Hepatic calcification, Hyperphosphaturia, ... |
ORPHA:51608 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Failure to thrive, Flexion contracture of finger, Hepatomegaly, Splenomegaly, Camptodactyly of fi... |
OMIM:256040 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Arachnodactyly, Thymus hyperplasia, Talipes equinovarus |
OMIM:619036 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Hip dysplasia, Cardiomegaly |
OMIM:618798 |
Alpha-Mannosidosis, Infantile Form |
|
Thickened ribs, Pectus excavatum, Cortical thickening of long bone diaphyses, Oligosacchariduria,... |
ORPHA:309282 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Bladder diverticulum, Kypho... |
OMIM:225400 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Ventricular septal defect, H... |
OMIM:614921 |
Charge Syndrome |
|
Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Micropenis, Hemivertebrae, Ab... |
ORPHA:138 |
Complete Atrioventricular Septal Defect |
|
Failure to thrive, Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Disp... |
ORPHA:1329 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Abnormal sternum morphology, Arachnodactyly, Scoliosis, Cardiomegaly |
ORPHA:91387 |
Cerebrocostomandibular Syndrome |
|
Posterior rib gap, Kyphosis, Clinodactyly of the 5th finger, Multicystic kidney dysplasia, Bell-s... |
ORPHA:1393 |
Hallermann-Streiff Syndrome |
|
Pectus excavatum, Abnormal rib cage morphology, Thin ribs, Small for gestational age, Abnormality... |
OMIM:234100 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Hepatoblastoma, Coat hanger sign of ribs, Short neck, Bell-shaped thorax, Large f... |
ORPHA:254519 |
Nestor-Guillermo Progeria Syndrome |
|
Failure to thrive, Right atrial enlargement, Thin ribs, Scoliosis, Limited elbow movement, Progre... |
OMIM:614008 |
Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Cirrhosis, Left atrial enla... |
ORPHA:57777 |
Truncus Arteriosus |
|
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Hypoplasia of the thymus,... |
ORPHA:3384 |
Monosomy 9P |
|
Hypospadias, Short neck, Bilateral single transverse palmar creases, Abnormality of the vertebral... |
ORPHA:261112 |
Oculocerebrorenal Syndrome Of Lowe |
|
Platyspondyly, Hematuria, Genu valgum, Abnormal epiphysis morphology, Proteinuria, Chorioretinal ... |
ORPHA:534 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... |
ORPHA:1457 |
Ear-Patella-Short Stature Syndrome |
|
Failure to thrive, Clinodactyly of the 5th finger, Hypoplasia of penis, Hypospadias, Camptodactyl... |
ORPHA:2554 |
Singleton-Merten Syndrome 1 |
|
Aortic valve calcification, Expanded metacarpals with widened medullary cavities, Aortic valve st... |
OMIM:182250 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Failure to thrive, Hepatomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic c... |
ORPHA:308552 |
Fetal Akinesia Deformation Sequence 1 |
|
Ulnar deviation of the hand, Talipes equinovarus, Elbow ankylosis, Thin ribs, Small for gestation... |
OMIM:208150 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormal preputium morphology, Abnormal hip bone morphology, Abnormal renal tubule morphology, Ca... |
ORPHA:2907 |
Glycogen Storage Disease Ii |
|
Urinary incontinence, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Diffuse pa... |
OMIM:601214 |
Liver Disease, Severe Congenital |
|
Hydrocele testis, Exocrine pancreatic insufficiency, Hepatomegaly, Pancreatic hypoplasia, Ventric... |
OMIM:619991 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Kindler Epidermolysis Bullosa |
|
Camptodactyly of finger, Urethral stricture, Abnormal rib morphology, Neoplasm of the urethra, Ph... |
ORPHA:2908 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly |
OMIM:261740 |
|