Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga |
OMIM:271620 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp... |
ORPHA:93304 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly, Genu valgum |
OMIM:184095 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Flat capital femoral epiphysis, Pectus carinatum, Genu valgum, Irregular ve... |
OMIM:609223 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... |
OMIM:271530 |
Spondylocamptodactyly Syndrome |
|
Platyspondyly, Camptodactyly of finger, Scoliosis |
ORPHA:3180 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Brachyolmia, Maroteaux Type |
|
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis |
ORPHA:93302 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Proximal f... |
OMIM:609324 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm |
ORPHA:168555 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Abnormal metacarpal morphology |
OMIM:269630 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Flat capital femoral epiphysis, Platyspondyly, Genu varum, Genu valgum |
OMIM:608361 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Short thorax, Abnormal epiphysis morphology, Micromelia |
ORPHA:93283 |
Osteogenesis Imperfecta, Type Vi |
|
Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Biconcave vertebral bodies, Beaki... |
OMIM:613982 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Bilateral coxa valga, Platyspondyly, Abnormal vertebral morphology, Abnormal ilium morphology |
ORPHA:163665 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Vertebral wedging, Platyspondyly, Internal tibial t... |
OMIM:616583 |
Dysosteosclerosis |
|
Clavicular sclerosis, Micrognathia, Absent frontal sinuses, Sclerotic scapulae, Increased interve... |
OMIM:224300 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... |
OMIM:271630 |
Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Schmorl's node, Irregular vertebral endplates, Platyspondyly, Beaking of vertebr... |
OMIM:604864 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... |
OMIM:611521 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p... |
OMIM:609813 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... |
OMIM:609616 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections |
OMIM:613796 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum |
OMIM:258850 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... |
OMIM:186500 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, P... |
OMIM:608728 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped... |
OMIM:156530 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Platyspondyly, Delayed ossification of carpal bones, I... |
OMIM:617974 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Bent Bone Dysplasia Syndrome 2 |
|
Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Thin ribs, Coronal cleft vertebrae, Plat... |
OMIM:620076 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Flared metaphysis,... |
OMIM:602557 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Broad radial metaphysis, Abnormal intervertebral disk morphology, Protrusio acet... |
ORPHA:99642 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... |
OMIM:619598 |
Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... |
OMIM:612847 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Enlargement of... |
OMIM:271650 |
Fibrochondrogenesis 2 |
|
Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplast... |
OMIM:614524 |
Pseudodiastrophic Dysplasia |
|
Platyspondyly, Rhizomelia, Phalangeal dislocation, Scoliosis |
ORPHA:85174 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Abn... |
ORPHA:750 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... |
OMIM:184100 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increa... |
OMIM:256050 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... |
ORPHA:1426 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspon... |
OMIM:602271 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... |
OMIM:184250 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures... |
OMIM:156510 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular, rachitic-like metaphyses, Short neck, Kyphoscoliosis, Hypoplasia of the odontoid proce... |
OMIM:184252 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Short ribs, Bell-shaped thorax |
OMIM:187750 |
Smith-Mccort Dysplasia 1 |
|
Barrel-shaped chest, Short metacarpal, Multicentric femoral head ossification, Iliac crest serrat... |
OMIM:607326 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect |
OMIM:608681 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa var... |
OMIM:608940 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Flattened metatarsal heads, Platyspondyly, Flattened metacarpal heads |
OMIM:271600 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v... |
OMIM:602111 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla... |
ORPHA:1856 |
Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondy... |
OMIM:113500 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa... |
OMIM:618961 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi... |
OMIM:313400 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly |
ORPHA:2956 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... |
ORPHA:168549 |
Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Short lower ... |
OMIM:259440 |
Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections |
OMIM:608957 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Thoracic hypoplasia, Bowing of the legs, Short neck, Hyperlordosis, Delayed epiphyseal ossificati... |
ORPHA:93352 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Cone-shaped epi... |
ORPHA:85172 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Coxa vara, Abnormal hip joint morphology, Arthralgia of the hip, Abnormal ace... |
ORPHA:166011 |
Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
Pyle Disease |
|
Metaphyseal dysplasia, Abnormal thorax morphology, Metaphyseal widening, Hypoplastic frontal sinu... |
OMIM:265900 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara, Abnormal r... |
ORPHA:93351 |
Dysspondyloenchondromatosis |
|
Kyphoscoliosis, Abnormal fibula morphology, Genu valgum, Vertebral segmentation defect, Platyspon... |
ORPHA:85198 |
Orofaciodigital Syndrome Type 3 |
|
Pectus excavatum, Postaxial hand polydactyly, Postaxial foot polydactyly, Thoracic kyphosis, Shor... |
ORPHA:2752 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Scarf Syndrome |
|
Short sternum, Short neck, Abnormal form of the vertebral bodies, Pectus carinatum |
ORPHA:3134 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Tapered finger, Short neck, Hip dislocation, Thin ribs, Irregular vertebr... |
OMIM:618395 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later... |
OMIM:269250 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Tapered finger... |
OMIM:313420 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... |
OMIM:223800 |
Smith-Mccort Dysplasia 2 |
|
Barrel-shaped chest, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Short... |
OMIM:615222 |
Diaphanospondylodysostosis |
|
Short neck, Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax, Absent or minimally ... |
ORPHA:66637 |
Pseudoachondroplasia |
|
Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epip... |
OMIM:177170 |
Scarf Syndrome |
|
Barrel-shaped chest, Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Short s... |
OMIM:312830 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Enlarged epiphyses, Irregularity of vertebral bodies, Coxa vara, Abnormal shoulder morphology, Ir... |
ORPHA:1159 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... |
OMIM:151210 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... |
ORPHA:85166 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... |
ORPHA:93267 |
Odontochondrodysplasia 1 |
|
Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx of finger, Genu v... |
OMIM:184260 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... |
OMIM:300863 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypo... |
OMIM:230650 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... |
OMIM:271700 |
Bruck Syndrome 1 |
|
Hip contracture, Protrusio acetabuli, Kyphosis, Coxa vara, Pectus carinatum, Vertebral wedging, P... |
OMIM:259450 |
Tarp Syndrome |
|
Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hypoplasia of the radi... |
OMIM:311900 |
Momo Syndrome |
|
Short sternum, Short neck |
OMIM:157980 |
Momo Syndrome |
|
Congenital pseudoarthrosis of the clavicle, Short sternum, Short neck, Femoral bowing |
ORPHA:2563 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Epiphyseal dysplasia, Enlarged epiphyses, Platyspondyly |
OMIM:184840 |
Progressive Pseudorheumatoid Dysplasia |
|
Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Enl... |
OMIM:208230 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Micrognathia, Short neck, Hypoplasia of... |
OMIM:264180 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, K... |
ORPHA:93316 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Rhizomeli... |
OMIM:616229 |
Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Coxa valga, Bowing of the legs, Pectus excavatum, Coxa vara, Bell-shaped tho... |
OMIM:619131 |
Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa... |
OMIM:609162 |
Odontochondrodysplasia |
|
Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysis, Platyspondyly, Square pe... |
ORPHA:166272 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Micrognathia, Hypoplastic pubic bone, Flared metaphysis, Short lon... |
ORPHA:93346 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara... |
OMIM:602535 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Proximal placement of thumb, Short sternum, Clinodactyly of the 5th finger, Clinodactyly of the 4... |
OMIM:620113 |
Osteogenesis Imperfecta, Type V |
|
Hyperextensibility of the finger joints, Vertebral wedging, Platyspondyly, Abnormal pelvic girdle... |
OMIM:610967 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo... |
OMIM:187600 |
Autosomal Recessive Stickler Syndrome |
|
Epiphyseal dysplasia, Micrognathia, Genu valgum, Irregular vertebral endplates, Platyspondyly, Ab... |
ORPHA:250984 |
Geroderma Osteodysplastica |
|
Beaking of vertebral bodies, Hip dislocation, Abnormal form of the vertebral bodies, Pectus carin... |
ORPHA:2078 |
Tarp Syndrome |
|
Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hyp... |
ORPHA:2886 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Tapered finger, Flat capital femoral epiphysis, Flattened epiphysis, Platyspondyly, Short femoral... |
ORPHA:157965 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short 4th metacarpal, Broad thumb, ... |
OMIM:619638 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... |
ORPHA:2347 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Wide distal... |
OMIM:269150 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Barrel-shaped chest, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal widening, Irregula... |
OMIM:612813 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Abnormal sternum mo... |
ORPHA:2911 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... |
OMIM:619636 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Thoracic hypoplasia, Postaxial polydactyly, Missing ribs, Micromelia, Micrognathia... |
OMIM:617866 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa... |
OMIM:251450 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v... |
OMIM:228520 |
Cornelia De Lange Syndrome 1 |
|
Proximal placement of thumb, Micromelia, Micrognathia, Short neck, Hypoplasia of the radius, Hypo... |
OMIM:122470 |
Mucopolysaccharidosis, Type Iva |
|
Ovoid vertebral bodies, Coxa valga, Epiphyseal deformities of tubular bones, Hypoplasia of the od... |
OMIM:253000 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Brachydactylous Dwarfism, Mseleni Type |
|
Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Platyspondyly, Brachytelomesoph... |
ORPHA:2619 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Micrognathia, Short neck, Humeroradial synostosis, Abnormal rib ... |
ORPHA:3404 |
Anauxetic Dysplasia 1 |
|
Barrel-shaped chest, Hip contracture, Lumbar hyperlordosis, Rhizomelia, Short neck, Hypoplastic i... |
OMIM:607095 |
Donnai-Barrow Syndrome |
|
Short sternum |
OMIM:222448 |
Osteogenesis Imperfecta, Type Xviii |
|
Bowing of the long bones, Micrognathia, Thin ribs, Femoral bowing, Biconcave vertebral bodies, Ve... |
OMIM:617952 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Barrel-shaped chest, Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivo... |
OMIM:226980 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, Genu valgum, Hip dyspl... |
OMIM:619698 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Brachyd... |
OMIM:234250 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Beaded ribs, Tibial bowing, Thin ribs, Bell-shaped thorax,... |
OMIM:166210 |
Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Short metacarpal, Thoracolumbar kyphoscoliosis, Hip subluxation, Pec... |
OMIM:618853 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,... |
ORPHA:163966 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal... |
OMIM:300232 |
Osteogenesis Imperfecta, Type Xi |
|
Protrusio acetabuli, Kyphoscoliosis, Coxa vara, Vertebral wedging, Scoliosis, Biconcave vertebral... |
OMIM:610968 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... |
ORPHA:93360 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Cone-shaped epiphysis, Platyspondyly |
ORPHA:71267 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic il... |
OMIM:169550 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
Osteogenesis Imperfecta, Type X |
|
Multiple rib fractures, Bowing of the long bones, Short femur, Thoracic scoliosis, Rhizomelia, Mi... |
OMIM:613848 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Shortening of all phalanges of fingers, Platyspondyly, Mesomelia, ... |
OMIM:601356 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Short sternum, Short neck, Micrognathia |
OMIM:257300 |
Spondyloepiphyseal Dysplasia Congenita |
|
Barrel-shaped chest, Back pain, Abnormally ossified vertebrae, Short femur, Lumbar hyperlordosis,... |
ORPHA:94068 |
Kniest Dysplasia |
|
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Short neck, Pectus excavatum, Delayed epi... |
OMIM:156550 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Rhizomelia, Thoracolumbar scol... |
OMIM:618019 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Hypoplastic il... |
OMIM:611717 |
Turnpenny-Fry Syndrome |
|
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Overlapping toe, Tapered finger, Pectus excavatum,... |
OMIM:618371 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Micromelia, Short neck, Wide distal femoral metaphysis, Delayed epiphyseal... |
OMIM:613320 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormal ver... |
ORPHA:1427 |
Dental Anomalies And Short Stature |
|
Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vertebral interpedicular di... |
OMIM:601216 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Ovoid vertebral bodies, Coxa valga, Micrognathia, Short neck, Flattened epiphysis, Flat acetabula... |
ORPHA:163649 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Large tarsal bones, Micrognathia, Flared metaphysis, ... |
OMIM:215150 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Short thorax, Abnormal... |
ORPHA:582 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Micrognathia, Shor... |
OMIM:255800 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Hypoplastic iliac wing, Abnormal vertebra... |
ORPHA:93315 |
Desbuquois Dysplasia 2 |
|
Short neck, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx of finger, Genu v... |
OMIM:615777 |
Chondroectodermal Dysplasia With Night Blindness |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Micrognathia, Fractures of the long bones, Platyspon... |
ORPHA:319195 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch... |
OMIM:250220 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... |
ORPHA:85167 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Anterior rib cupping,... |
OMIM:211350 |
Spondyloepiphyseal Dysplasia Congenita |
|
Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the ... |
OMIM:183900 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Tibial bowi... |
OMIM:610915 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Short metacarpal, Camptodactyly of finger, Kyphoscoliosis, Tapered finger, Flat capital femoral e... |
OMIM:612350 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... |
ORPHA:457395 |
Cantu Syndrome |
|
Broad hallux, Ovoid vertebral bodies, Short hallux, Coxa valga, Short neck, Metaphyseal widening,... |
OMIM:239850 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Mycetoma |
|
Back pain, Abnormal thorax morphology, Abnormal forearm bone morphology, Abnormal form of the ver... |
ORPHA:2583 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi... |
OMIM:618150 |
Thanatophoric Dysplasia |
|
Micromelia, Abnormal sacroiliac joint morphology, Kyphosis, Short thorax, Hip dysplasia, Platyspo... |
ORPHA:2655 |
Geroderma Osteodysplasticum |
|
Beaking of vertebral bodies, Hyperextensibility of the finger joints, Kyphoscoliosis, Tibial bowi... |
OMIM:231070 |
Stickler Syndrome Type 1 |
|
Abnormal vertebral epiphysis morphology, Platyspondyly, Abnormal epiphysis morphology |
ORPHA:90653 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia ... |
OMIM:215140 |
Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ... |
ORPHA:485 |
Mucopolysaccharidosis, Type Ivb |
|
Ovoid vertebral bodies, Coxa valga, Epiphyseal deformities of tubular bones, Hypoplasia of the od... |
OMIM:253010 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... |
OMIM:602080 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Toe syndactyly, Short neck, Platyspondyly, Cone-shaped epiphyses of the distal phalanges of the h... |
OMIM:618958 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hypermobility of toe joints, Micrognathia, Pectus excavatum, Kyphosis, Short toe, Enlargement of ... |
ORPHA:99413 |
Turner Syndrome |
|
Hypermobility of toe joints, Micrognathia, Pectus excavatum, Kyphosis, Short toe, Enlargement of ... |
ORPHA:881 |
Mosaic Monosomy X |
|
Hypermobility of toe joints, Micrognathia, Pectus excavatum, Kyphosis, Short toe, Enlargement of ... |
ORPHA:99228 |
Monosomy X |
|
Hypermobility of toe joints, Micrognathia, Pectus excavatum, Kyphosis, Short toe, Enlargement of ... |
ORPHA:99226 |
Atelosteogenesis, Type I |
|
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Narrow chest, Vertebral hypoplasia, Sh... |
OMIM:108720 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Kyphoscoliosis, Coxa valga, Pectus excavatum, Platys... |
OMIM:617425 |
Bruck Syndrome |
|
Kyphosis, Bowing of the long bones, Scoliosis, Platyspondyly |
ORPHA:2771 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Short neck, Triangular shaped distal phalanges of t... |
OMIM:271665 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Hip contracture, Vertebral compression fracture, Cervical spinal canal stenosis |
OMIM:620232 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Pectus carinatum, Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, Short ... |
OMIM:312870 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Anterior rib cupping, Short neck, Hypoplasia of the odontoid proces... |
OMIM:258480 |
Achondroplasia |
|
Brachydactyly, Radial bowing, Short femur, Rhizomelia, Thoracic hypoplasia, Bowing of the legs, L... |
OMIM:100800 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Broad metacarpal... |
OMIM:259600 |
Lowry-Wood Syndrome |
|
Epiphyseal dysplasia, Coxa vara, Irregular epiphyses, Platyspondyly, Abnormal epiphysis morpholog... |
ORPHA:1824 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Short femur, Fractured radius, Decreased fibular diameter, Beaded ribs, M... |
OMIM:616897 |
Coffin-Siris Syndrome 1 |
|
Sacral dimple, Sandal gap, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypopl... |
OMIM:135900 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Platyspondyly, Scoliosis, Femoral bowing |
OMIM:126550 |
Stickler Syndrome, Type I |
|
Arachnodactyly, Micrognathia, Pectus excavatum, Kyphosis, Irregular femoral epiphysis, Platyspond... |
OMIM:108300 |
Bruck Syndrome 2 |
|
Pectus carinatum, Platyspondyly, Femoral bowing |
OMIM:609220 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Platyspondyly, Abnormal intervertebral disk morphology |
ORPHA:1345 |
Osteogenesis Imperfecta, Type Xvii |
|
Bowed humerus, Kyphoscoliosis, Hip dislocation, Platyspondyly, Vertebral compression fracture, Th... |
OMIM:616507 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... |
ORPHA:1860 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
Ollier Disease |
|
Abnormal metaphysis morphology, Platyspondyly, Micromelia |
ORPHA:296 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... |
ORPHA:1517 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Arachnodactyly, Kyphoscoliosis, Wide distal femoral metaphysis, Femoral bowing... |
OMIM:614856 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short metacarpal, Short fourth metatarsal, Overlapping toe, Thoracolumbar scoliosis, Short neck, ... |
OMIM:616723 |
Thanatophoric Dysplasia Type 2 |
|
Micromelia, Kyphosis, Short thorax, Platyspondyly, Narrow chest, Abnormal metaphysis morphology, ... |
ORPHA:93274 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... |
OMIM:271640 |
Hypophosphatasia, Infantile |
|
Micromelia, Bowing of the legs, Vertebral clefting, Platyspondyly, Short ribs, Unossified vertebr... |
OMIM:241500 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Narrow vertebral interpedicular distance, Kyphos... |
OMIM:271510 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Bowing of the long bones, Kyphoscoliosis, Hypoplastic ilia, Pectus excavatu... |
OMIM:615349 |
Dysosteosclerosis |
|
Hypoplastic vertebral bodies, Irregular vertebral endplates, Platyspondyly, Abnormal metaphysis m... |
ORPHA:1782 |
Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Micrognathia, Short th... |
ORPHA:50945 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Spatulate ribs, Short neck, Metatarsus adductus, Th... |
OMIM:253220 |
Infantile Liver Failure Syndrome 3 |
|
Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver... |
OMIM:618641 |
Hall-Riggs Syndrome |
|
Platyspondyly, Abnormal epiphysis morphology, Scoliosis, Limb undergrowth, Abnormal metaphysis mo... |
ORPHA:2107 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, Narrow iliac wing |
OMIM:616294 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... |
OMIM:263520 |
Osteogenesis Imperfecta, Type Vii |
|
Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversio... |
OMIM:610682 |
Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platyspondyly... |
OMIM:259770 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Kyphoscoliosis, Short neck, Pectus excavatum, Long finge... |
OMIM:309583 |
Gm1-Gangliosidosis, Type Ii |
|
Coxa valga, Hypoplastic vertebral bodies, Platyspondyly, Limb undergrowth, Scoliosis, Thoracolumb... |
OMIM:230600 |
Meier-Gorlin Syndrome 1 |
|
Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Pectus carinatum, Cutaneo... |
OMIM:224690 |
Cole-Carpenter Syndrome 1 |
|
Vertebral compression fracture, Scoliosis, Micrognathia |
OMIM:112240 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Diaphyseal sclerosis, Pectus carinatum,... |
OMIM:618476 |
Gm1 Gangliosidosis Type 1 |
|
Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Flared iliac wing, Short long bon... |
ORPHA:79255 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
Spondylo-Ocular Syndrome |
|
Platyspondyly, Abnormal intervertebral disk morphology, Thoracic kyphosis, Short neck |
ORPHA:85194 |
Spondyloocular Syndrome |
|
Long toe, Overlapping toe, Arachnodactyly, Femur fracture, Long fingers, Pectus carinatum, Shield... |
OMIM:605822 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Micrognathia, Short neck, Pectus carinatum, Shoulder dislocation, Narrow chest, Dislocated radial... |
OMIM:245600 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Micrognathia, Increased intervertebral space, Narrow greater sciatic notch, Abnormality of the ce... |
ORPHA:508533 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Micrognathia, Metaphyseal widening, Anterior atlanto-occipital dislocation, Pectus carinatum, Ara... |
ORPHA:536467 |
Marshall Syndrome |
|
Radial bowing, Coxa valga, Hypoplastic ilia, Micrognathia, Ulnar bowing, Irregular femoral epiphy... |
OMIM:154780 |
Osteogenesis Imperfecta |
|
Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology... |
ORPHA:666 |
Osteogenesis Imperfecta, Type Xx |
|
Vertebral compression fracture, Asymmetry of the thorax, Narrow chest, Kyphoscoliosis |
OMIM:618644 |
Osteoglophonic Dysplasia |
|
Short metacarpal, Hypoplastic scapulae, Bowing of the long bones, Camptodactyly of finger, Rhizom... |
OMIM:166250 |
Hajdu-Cheney Syndrome |
|
Kyphoscoliosis, Micrognathia, Absent frontal sinuses, Short neck, Tall lumbar vertebral bodies, O... |
OMIM:102500 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Barrel-shaped chest, Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Short iliac bon... |
OMIM:607944 |
Occipital Horn Syndrome |
|
Short humerus, Pelvic bone exostoses, Coxa valga, Broad clavicles, Capitate-hamate fusion, Pectus... |
OMIM:304150 |
Gaucher Disease, Type I |
|
Vertebral compression fracture, Erlenmeyer flask deformity of the femurs |
OMIM:230800 |
Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Short neck, Coxa vara, Pectus carinatum, Abnormally ossified vertebrae,... |
ORPHA:800 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Coxa vara, Ivory epip... |
ORPHA:93357 |
Occipital Horn Syndrome |
|
Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short palm, Large iliac wing, Aplastic ... |
ORPHA:198 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Micrognathia, Metaphyseal widening, Abnormal finger morphology, Pectus carinatum, Abnormal verteb... |
ORPHA:536471 |
Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Micrognathia, Short neck, Preaxial hand polydactyly, ... |
ORPHA:261318 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Abnormal... |
ORPHA:354 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Short neck, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irreg... |
OMIM:610442 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short neck, Short metatarsal, Tibial bowing, Femoral bo... |
OMIM:304120 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Tibial bowing, Femoral bowing, Platyspondyly, Narrow ... |
OMIM:616482 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Absent sternal ossification, Aplasia/Hypoplasia of the patella, Micrognathia, ... |
OMIM:613803 |
Schimke Immunoosseous Dysplasia |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Platyspondyly, Thoracic kyphosis, Later... |
OMIM:242900 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies |
OMIM:219090 |
Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Femoral bowing present at birth, straightening with time, Biconcave flattened vertebrae... |
OMIM:166220 |
Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Kyphosis, Pectus carinatum, Platyspo... |
ORPHA:1855 |
Schimke Immuno-Osseous Dysplasia |
|
Wide capital femoral epiphyses, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Abnorma... |
ORPHA:1830 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Platyspondyly, Scoliosis, Hy... |
OMIM:612394 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Increased intervertebral space, Broad ischia, Diaphyseal dysplasia, Platys... |
OMIM:619727 |
Craniorachischisis |
|
Bifid sternum |
ORPHA:63260 |
Myhre Syndrome |
|
Brachydactyly, Abnormal rib morphology, Platyspondyly, Abnormal epiphysis morphology, Short palm,... |
ORPHA:2588 |
Myhre Syndrome |
|
Vertebral fusion, Overlapping toe, Short neck, Short toe, 2-3 toe syndactyly, Cone-shaped epiphys... |
OMIM:139210 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Short toe, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Scoliosis, Clinodac... |
OMIM:619269 |
Gaucher Disease Type 1 |
|
Kyphosis, Vertebral compression fracture |
ORPHA:77259 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossification, Preaxial polydactyly, Femo... |
OMIM:210710 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Anterior rib cupping, Horizontal inferior border of scapula, Platyspondyly, Abnormal pelvic girdl... |
OMIM:102700 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ab... |
ORPHA:3472 |
Shwachman-Diamond Syndrome |
|
Metaphyseal chondrodysplasia, Metaphyseal widening, Abnormal finger morphology, Deformed rib cage... |
ORPHA:811 |
Alpha-Mannosidosis, Infantile Form |
|
Thickened ribs, Short neck, Pectus excavatum, Genu valgum, Pectus carinatum, Cortical thickening ... |
ORPHA:309282 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the pha... |
OMIM:219000 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
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Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Kyphoscoliosis, Thin ribs, Platy... |
OMIM:225400 |
Coffin-Lowry Syndrome |
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Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... |
OMIM:303600 |
Stickler Syndrome |
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Arachnodactyly, Protrusio acetabuli, Micrognathia, Kyphosis, Hip dislocation, Spinal canal stenos... |
ORPHA:828 |
Yunis-Varon Syndrome |
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Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatar... |
OMIM:216340 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Irregular iliac crest, Short neck, Me... |
ORPHA:99646 |
Cardiac Diverticulum |
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Aplasia/Hypoplasia of the sternum |
ORPHA:1686 |
Multiple Myeloma |
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Vertebral compression fracture |
ORPHA:29073 |
Oculocerebrorenal Syndrome Of Lowe |
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Micrognathia, Kyphosis, Abnormal rib morphology, Hip dislocation, Genu valgum, Platyspondyly, Abn... |
ORPHA:534 |
Aspartylglucosaminuria |
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Kyphosis, Hypoplastic frontal sinuses, Platyspondyly, Spondylolysis, Scoliosis, Beaking of verteb... |
OMIM:208400 |
Porphyria, Congenital Erythropoietic |
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Vertebral compression fracture |
OMIM:263700 |
Lowe Oculocerebrorenal Syndrome |
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Camptodactyly of finger, Kyphosis, Hip dislocation, Genu valgum, Finger swelling, Platyspondyly, ... |
OMIM:309000 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Abnormal pelvis bone morphology, Camptodactyly of finger, Kyphosis, Platyspondyly, Abnormality of... |
ORPHA:2273 |
Fontaine Progeroid Syndrome |
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Syndactyly, Micrognathia, Platyspondyly, Absent distal phalanges, Scoliosis, Short distal phalanx... |
OMIM:612289 |
Cushing Disease |
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Vertebral compression fracture |
ORPHA:96253 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Vertebral compression fracture |
ORPHA:99889 |
Pmm2-Cdg |
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Long fingers, Platyspondyly, Kyphoscoliosis |
ORPHA:79318 |