Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Hypertrophy Of The Breast, Juvenile |
|
Abnormal thorax morphology |
OMIM:113670 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphosis, Supernumerary vertebral ossification centers... |
OMIM:609813 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck |
OMIM:608681 |
Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Intervertebral disk calcification, Osteoarthritis of the small joints of the hand, Costal cartila... |
OMIM:118610 |
Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Pectus carinatum... |
OMIM:122600 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... |
OMIM:613686 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... |
OMIM:277300 |
Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Hemivertebrae, Unilateral brac... |
OMIM:173800 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Short neck, Posterior rib fusion, Scoliosis, Spina bifida occulta,... |
ORPHA:1797 |
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, Scoliosis, Abnormality of tibia mor... |
ORPHA:64755 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... |
OMIM:609052 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Spondylometaphyseal Dysplasia, East African Type |
|
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... |
OMIM:611702 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... |
OMIM:617405 |
Femoral-Facial Syndrome |
|
Vertebral segmentation defect, Rib fusion, Coxa vara, Sprengel anomaly, Aplasia/Hypoplasia of the... |
ORPHA:1988 |
Thoracomelic Dysplasia |
|
Short ribs, Bell-shaped thorax |
OMIM:273740 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Bell-shaped thorax, Short ribs |
OMIM:187750 |
Sprengel Deformity |
|
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... |
OMIM:184400 |
Thoracolaryngopelvic Dysplasia |
|
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Metaphyseal widenin... |
OMIM:187760 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Coxa vara, Short palm, Platyspondyly, Flared, irregular rib ends |
ORPHA:168555 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Sclerotic v... |
ORPHA:2790 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Rib fusion, Kyphosis, Camptodactyly of finger, Short neck, Scolios... |
ORPHA:2311 |
Kyphomelic Dysplasia |
|
Narrow chest, Undulate ribs, Anterior rib cupping, Abnormal form of the vertebral bodies, Missing... |
ORPHA:1801 |
Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Abnormal ... |
ORPHA:1354 |
Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... |
ORPHA:1836 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
Metatropic Dysplasia |
|
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... |
OMIM:156530 |
Becker Nevus Syndrome |
|
Pectus excavatum, Hemivertebrae, Scoliosis, Unilateral breast hypoplasia, Cervical ribs |
OMIM:604919 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... |
OMIM:609616 |
Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Increased vertebral height, Platyspondyly, Short thorax, Abnormal metaphysis morp... |
ORPHA:93304 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Pectus excavatum, Abnormal rib cage morphology, Hemivertebrae, Posterior rib fusion, Preaxial han... |
OMIM:608406 |
Metatropic Dysplasia |
|
Narrow chest, Kyphosis, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Camptodactyly of f... |
ORPHA:2635 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... |
OMIM:271650 |
Spondylometaphyseal Dysplasia, Axial |
|
Narrow chest, Coxa vara, Narrow greater sciatic notch, Splenomegaly, Platyspondyly, Anterior rib ... |
OMIM:602271 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... |
ORPHA:174 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia, Abnormal thorax morphology |
OMIM:200900 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Lumbar hyperlordosis, Metaphyseal spurs, Dysplastic iliac wing, Narrow greate... |
OMIM:608728 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Lateral clavicle hook, Postaxial polydactyly, Brachydactyly, Bell-shaped thorax, Ho... |
OMIM:615633 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... |
OMIM:618395 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis,... |
OMIM:271520 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Abnormal joint morphology, Osteoarthritis, Platyspondyly, Synostosis of carpal bones, ... |
ORPHA:93351 |
Jeune Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Cone-shaped epiphysis, B... |
ORPHA:474 |
Thanatophoric Dysplasia, Type Ii |
|
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... |
OMIM:187601 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... |
OMIM:184250 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... |
OMIM:102510 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology |
ORPHA:1506 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Pectus excavatum, Platyspondyly, Scoliosis, Wormian bones, Pectus carinatum, Short lowe... |
OMIM:259440 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... |
OMIM:607778 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Narrow chest, Metaphyseal cupping, Thin ribs, Short ribs, Disc-like vertebral bodies, Hypoplastic... |
OMIM:151210 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Cerebrofaciothoracic Dysplasia |
|
Bifid ribs, Rib fusion, Vertebral segmentation defect, Sprengel anomaly, Narrow chest, Hemiverteb... |
ORPHA:1394 |
Sternum, Premature Obliteration Of Sutures Of |
|
Premature sternal synostosis, Cryptorchidism, Short sternum |
OMIM:184800 |
Axial Spondylometaphyseal Dysplasia |
|
Platyspondyly, Upper limb undergrowth, Flared, irregular rib ends, Thoracic hypoplasia, Narrow gr... |
ORPHA:168549 |
Diaphanospondylodysostosis |
|
Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossi... |
ORPHA:66637 |
Dyggve-Melchior-Clausen Disease |
|
Broad carpal bones, Short neck, Abnormality of the ankles, Abnormal femoral head morphology, Hypo... |
ORPHA:239 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... |
OMIM:608940 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Down-sloping shoulders, Short neck, Ulnar deviation of finger, Rocker bottom foot, Pterygium, Rib... |
OMIM:265000 |
Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... |
ORPHA:2345 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platy... |
OMIM:184252 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormality of the humeroulnar joint, Hemivertebrae, Short neck, Abnormal form of the vertebral b... |
ORPHA:2234 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology, Short neck, Vertebral segmentation defect |
ORPHA:2578 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum |
OMIM:602196 |
Pontine Tegmental Cap Dysplasia |
|
Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis |
OMIM:614688 |
Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Abnormal rib morphology |
OMIM:300864 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Supraumbilical raphe, Bifid sternum |
OMIM:140850 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Abnormal reticulocyte morphology, Abnor... |
ORPHA:2522 |
Juberg-Hayward Syndrome |
|
Abnormality of finger, Hypoplasia of the radius, Scoliosis, Radioulnar synostosis, Hammertoe, Abn... |
ORPHA:2319 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Lumbar hyperlordosis, Narro... |
OMIM:602557 |
Diastrophic Dysplasia |
|
Kyphosis, Hypoplastic cervical vertebrae, Joint dislocation, Abnormal clavicle morphology, Campto... |
ORPHA:628 |
Holt-Oram Syndrome |
|
Sprengel anomaly, Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Absent thumb, Down-sl... |
ORPHA:392 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Short neck, Platyspondyly, Abnormal rib morphology, A... |
ORPHA:93267 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion |
OMIM:221950 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord... |
OMIM:184253 |
Kbg Syndrome |
|
Rib fusion, Clinodactyly of the 5th finger, Cryptorchidism, Ulnar deviation of the 2nd finger, Cu... |
OMIM:148050 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormality of the spleen, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs |
ORPHA:66630 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Pectus excavatum, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Duplication of the... |
OMIM:268310 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Vertebral segmentation defect, Rib fusion, Multiple pterygia, Pectus excavatum, Abnormal sternum ... |
ORPHA:2990 |
Hyperparathyroidism, Transient Neonatal |
|
Narrow chest, Femoral bowing, Thin ribs, Short ribs |
OMIM:618188 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal hip bone morphology, Short neck, Abnormal form of the vertebral bodies, Slender long bon... |
ORPHA:1486 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Rib fusion, Craniosynostosis, Scoliosis, Abnormal vertebral morphology, Hand polydactyly |
ORPHA:261197 |
Schneckenbecken Dysplasia |
|
Narrow chest, Metaphyseal irregularity, Advanced ossification of carpal bones, Lateral clavicle h... |
OMIM:269250 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Short clavicles, Short ribs, Short humerus, Short neck, Short femoral neck, Scoliosis, Biconcave ... |
OMIM:610319 |
Microphthalmia, Syndromic 3 |
|
Rib fusion, Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Supernumerary... |
OMIM:206900 |
Grant Syndrome |
|
Sprengel anomaly, Narrow chest, Joint dislocation, Abnormality of the glenoid fossa, Wormian bone... |
ORPHA:2097 |
Achondrogenesis, Type Ii |
|
Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Absent vertebral body mineraliz... |
OMIM:200610 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Splenomegaly, Abnormally ossified vertebrae, Abnormal rib morpholog... |
ORPHA:3035 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... |
OMIM:223800 |
Mosaic Trisomy 14 |
|
Narrow chest, Camptodactyly of finger, Short neck, Abnormal rib morphology, Cryptorchidism |
ORPHA:1703 |
Femoral-Facial Syndrome |
|
Sprengel anomaly, Rib fusion, Short fifth metatarsal, Hypoplastic acetabulae, Dysplastic sacrum, ... |
OMIM:134780 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Coxa vara, Prominent sternum, Flared iliac wing, Thin ribs, Metaphyseal widening, Short neck, Ant... |
OMIM:300232 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Anterior hypopituitarism, Central diabetes insipidus, Abnormal vertebral... |
ORPHA:280195 |
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Broad phalanx, Genu valgum, Irregular iliac crest, Short long bone, Metaphyseal irregularity, Sho... |
OMIM:250420 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Thin ribs, Platyspondyly, 11 pair... |
OMIM:300863 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Broad hallux phalanx, Sh... |
ORPHA:3082 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly, Neutropenia |
ORPHA:2643 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Bifid ribs, Rib fusion, Overlapping toe, Beaking of vertebral bodies, Pectus excavatum, Decreased... |
OMIM:213980 |
Cog1-Cdg |
|
Posterior rib gap, Rib fusion, Vertebral segmentation defect, Kyphoscoliosis, Butterfly vertebrae... |
ORPHA:263508 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Asymmetry of the thorax, Thin ribs, Epiphyseal streaking, Clinodactyly of the 4th toe, Wormian bo... |
OMIM:604922 |
White Forelock With Malformations |
|
Sprengel anomaly, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal rib morphology, ... |
ORPHA:2475 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal rib morphology, Abnormal clavicle morphology |
ORPHA:276422 |
Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Kyphosis, Joint dislocation, Short neck, Platyspondyly, Scoliosis, Pectus ... |
ORPHA:582 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... |
OMIM:118100 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, Hemivertebrae, Brachydactyly, Scoliosis, Abnormal form of the vertebral bodies,... |
ORPHA:2180 |
Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beaking of lumbar ... |
OMIM:253000 |
Pallister-Hall Syndrome |
|
Rib fusion, Mesoaxial hand polydactyly, Mesoaxial foot polydactyly, Decreased response to growth ... |
OMIM:146510 |
Hypophosphatasia |
|
Narrow chest, Craniosynostosis, Abnormal rib morphology, Bowing of the long bones, Abnormal metap... |
ORPHA:436 |
Autosomal Recessive Robinow Syndrome |
|
Pectus excavatum, Short neck, Pectus carinatum, Sandal gap, Elbow dislocation, Sacral dimple, Sho... |
ORPHA:1507 |
Fibrochondrogenesis |
|
Narrow chest, Short ribs, Camptodactyly of finger, Short neck, Brachydactyly, Abnormal form of th... |
ORPHA:2021 |
Mucopolysaccharidosis, Type X |
|
Beaking of vertebral bodies, Platyspondyly, Scoliosis, Broad clavicles, Hyperlordosis, Irregular ... |
OMIM:619698 |
Fibrochondrogenesis 1 |
|
Short neck, Platyspondyly, Dumbbell-shaped long bone, Posterior rib cupping, Short long bone, Tho... |
OMIM:228520 |
Osteogenesis Imperfecta, Type Ii |
|
Tibial bowing, Thin ribs, Platyspondyly, Crumpled long bones, Wormian bones, Bell-shaped thorax, ... |
OMIM:166210 |
Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Butterfly vertebrae, Small hand, Scoliosis, Missing ribs, Block vertebrae... |
ORPHA:50 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Prominent floating ribs |
OMIM:152800 |
3M Syndrome |
|
Kyphosis, Increased vertebral height, Clinodactyly of the 5th finger, Enlarged thorax, Thin ribs,... |
ORPHA:2616 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... |
OMIM:617604 |
Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Narrow chest, Cone-shaped epiphyses of the phalanges of the hand,... |
ORPHA:2484 |
Achondrogenesis Type 1B |
|
Narrow chest, Short neck, Abnormal rib morphology, Short thorax, Short foot |
ORPHA:93298 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Rib fusion, Clinodactyly of the 5th finger, Tapered toe, Tapered finger, Bilateral cryptorchidism... |
ORPHA:544488 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... |
OMIM:300106 |
Baller-Gerold Syndrome |
|
Rib fusion, Carpal synostosis, Hypoplasia of the radius, Coronal craniosynostosis, Carpal bone ap... |
OMIM:218600 |
Cat-Eye Syndrome |
|
Abnormal rib morphology, Hip dysplasia |
ORPHA:195 |
Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Butterfly vertebrae, Block vertebrae, Hemivertebrae, Scoliosis, Missing r... |
OMIM:304050 |
Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Kyphosis, Prominent sternum, Constricted iliac... |
OMIM:253010 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Platyspondyly, Short neck, Abnormal epiphysis morphology, Premature osteoarthritis, Thoracic hypo... |
ORPHA:93352 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Arachnodactyly, Hemivertebrae, Abnormal form of the vertebral bod... |
ORPHA:2759 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Platyspondyly, Hyposegmentation of neutrophil nuclei, Broad hallux, Genu valgum, ... |
OMIM:618019 |
Thanatophoric Dysplasia, Type I |
|
Narrow chest, Wide-cupped costochondral junctions, Metaphyseal irregularity, Small abnormally for... |
OMIM:187600 |
Phaver Syndrome |
|
Butterfly vertebrae, Broad hallux phalanx, Camptodactyly of finger, Abnormal form of the vertebra... |
ORPHA:2876 |
Wolf-Hirschhorn Syndrome |
|
Rib fusion, Kyphosis, Split hand, Arachnodactyly, Preaxial hand polydactyly, Abnormality of the v... |
ORPHA:280 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Thin ribs, Stenosis of the medullary cavity of the lo... |
ORPHA:93324 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Abnormal rib morphology, Sprengel anomaly, Abnormality of the vertebral column |
OMIM:601076 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Vertebral segmentation defect, Butterfly vertebrae, Cryptorchidism, Small hand, Short neck, Scoli... |
OMIM:611209 |
Lethal Kniest-Like Dysplasia |
|
Narrow chest, Hypoplastic vertebral bodies, Short ribs, Hypoplastic ilia, Flared metaphysis, Shor... |
ORPHA:2347 |
Kenny-Caffey Syndrome, Type 1 |
|
Thin ribs, Long clavicles, Small hand, Anemia, Congenital hypoparathyroidism, Thin clavicles, Sle... |
OMIM:244460 |
Mucolipidosis Iii Alpha/Beta |
|
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Short ribs, Craniosynosto... |
OMIM:252600 |
Achondrogenesis Type 1A |
|
Narrow chest, Multiple rib fractures, Short neck, Short thorax, Short foot, Short palm |
ORPHA:93299 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Wormian bones, Abnormal form of the vertebral bodies, Abnormal rib morpholog... |
ORPHA:2050 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Kyphosis, Splenomegaly, Short neck, Genu valgum, Broad ribs, Ovoid vertebra... |
ORPHA:583 |
Dysosteosclerosis |
|
Irregular vertebral endplates, Narrow chest, Abnormal metaphyseal trabeculation, Short sternum, H... |
OMIM:224300 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Hypop... |
ORPHA:163966 |
Osteogenesis Imperfecta, Type Xvi |
|
Narrow chest, Short long bone, Multiple rib fractures, Platyspondyly, Angulated humerus, Wormian ... |
OMIM:616229 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Kyphoscoliosis, Cryptorchidism, Short ribs, Elbow flexion contracture, Knee flexion contracture, ... |
ORPHA:1145 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Narrow chest, Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Short ribs, Brac... |
OMIM:617895 |
Achondrogenesis, Type Ia |
|
Narrow chest, Bowing of the legs, Short clavicles, Short ribs, Hypoplasia of the radius, Hypoplas... |
OMIM:200600 |
Cooper-Jabs Syndrome |
|
Abnormal hip bone morphology, Camptodactyly of finger, Scoliosis, Abnormal rib morphology, Missin... |
ORPHA:1488 |
Acro-Renal-Mandibular Syndrome |
|
Sprengel anomaly, Kyphosis, Butterfly vertebrae, Abnormal clavicle morphology, Thin ribs, Split f... |
ORPHA:958 |
Three M Syndrome 2 |
|
Lumbar hyperlordosis, Thin ribs, Short neck, Short 5th finger, Slender long bone, Prominent calca... |
OMIM:612921 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Femoral bowing, Biconcave vertebral bodies, Wormian bones, Bowing of the long bones, V... |
OMIM:617952 |
Shwachman-Diamond Syndrome 1 |
|
Narrow chest, Coxa vara, Neutropenia, Narrow greater sciatic notch, Metaphyseal sclerosis, Persis... |
OMIM:260400 |
Robinow Syndrome |
|
Short distal phalanx of finger, Rib fusion, Kyphoscoliosis, Fused thoracic vertebrae, Hemivertebr... |
ORPHA:97360 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the radius, Synostosis of carpal bones, Scoliosis, Short thumb, Radioulnar synostos... |
ORPHA:3258 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Tibial bowing, Thin ribs, Biconcave vertebral bodies, Wormian bones, Slender long bone,... |
OMIM:259420 |
Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis, Splenomegaly |
OMIM:252900 |
Craniosynostosis, Herrmann-Opitz Type |
|
Craniosynostosis, Brachydactyly, Abnormal rib morphology, Split hand, Finger syndactyly |
ORPHA:2145 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Brachydactyly, Thin ribs, Craniosynostosis |
OMIM:618265 |
Lethal Congenital Contracture Syndrome 10 |
|
Narrow chest, Thoracic scoliosis, Adducted thumb, Hypoplasia of the thymus, Short neck, Overlappi... |
OMIM:617022 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... |
ORPHA:85167 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology, Cryptorchidism |
ORPHA:2772 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal sternum morphology, Supernumerary nipple, Short ribs, Postaxial hand polydactyly, Abnorm... |
ORPHA:2519 |
Acromesomelic Dysplasia 4 |
|
Broad phalanx, Prominent sternum, Platyspondyly, Broad finger, Genu valgum, Sandal gap, Prominent... |
OMIM:619636 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Cone-shaped epiphyses of the phalanges of the hand, Short neck, 11 pairs of ribs, Platyspondyly, ... |
OMIM:250220 |
Wolf-Hirschhorn Syndrome |
|
Rib fusion, Kyphosis, Abnormal sternal ossification, Preaxial hand polydactyly, Vertebral fusion,... |
OMIM:194190 |
Kyphomelic Dysplasia |
|
Tibial bowing, Radial bowing, Lateral clavicle hook, Short femur, Undulate ribs, Femoral bowing, ... |
OMIM:211350 |
Kniest-Like Dysplasia, Lethal |
|
Narrow chest, Metaphyseal irregularity, Hypoplastic vertebral bodies, Short ribs, Hypoplastic ili... |
OMIM:245190 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Broad femoral neck, Wormian bones, Short tubular bones of the hand, Vertebral arch anomaly, Broad... |
ORPHA:85184 |
Poland Syndrome |
|
Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Pectus carinatum, V... |
ORPHA:2911 |
Cartilage-Hair Hypoplasia |
|
Prominent sternum, Femoral bowing, Macrocytic anemia, Scoliosis, Anemia, Hypoplasia of the odonto... |
OMIM:250250 |
Brachytelephalangic Chondrodysplasia Punctata |
|
C1-C2 subluxation, Epiphyseal stippling of toe phalanges, Cervical vertebral dysplasia, Epiphysea... |
ORPHA:79345 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Vertebral segmentation defect, Short thumb, Abnormal rib morpholo... |
ORPHA:1120 |
Multiple Synostoses Syndrome 1 |
|
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalang... |
OMIM:186500 |
Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Brachydactyly, Abnormal thorax morphology, Abnormal rib morphology... |
ORPHA:1318 |
Axial Mesodermal Dysplasia Spectrum |
|
Vertebral segmentation defect, Short neck, Abnormality of the spleen, Scoliosis, Abnormal form of... |
ORPHA:1834 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Pectus excavatum, Thin ribs, Coronal craniosynostosis, Platyspondyly, Wormian bones, Na... |
OMIM:616294 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Narrow chest, Abnormal scapula morphology, Cone-shaped epiphysis, Iliac crest serration, Platyspo... |
ORPHA:93317 |
Holzgreve Syndrome |
|
Abnormal morphology of ulna, Abnormally ossified vertebrae, Abnormal rib morphology, Abnormal met... |
ORPHA:2167 |
Cardiospondylocarpofacial Syndrome |
|
Rib fusion, Carpal synostosis, Cone-shaped epiphysis, Brachydactyly, Scoliosis, Fused cervical ve... |
OMIM:157800 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Broad phalanx, Pectus excavatum, Platyspondyly, C1-C2 subluxation, Hip subluxation, Posterior rib... |
OMIM:271665 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Metaphyseal spurs, Lateral clavicle hook, Short ribs, Postaxial p... |
OMIM:613091 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Ovoid thoracolumbar vertebrae, Splenomegaly |
OMIM:252920 |
Prune Belly Syndrome |
|
Vertebral segmentation defect, Pectus excavatum, Congenital hip dislocation, Scoliosis, Abnormal ... |
ORPHA:2970 |
Zttk Syndrome |
|
Rib fusion, Kyphosis, Craniosynostosis, Small hand, Hemivertebrae, Scoliosis, Cervical ribs, Abse... |
OMIM:617140 |
Pyknoachondrogenesis |
|
Enlarged thorax, Abnormal iliac wing morphology, Unossified sacrum, Short ribs, Hypoplastic ischi... |
ORPHA:3003 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Narrow chest, Craniosynostosis, Short tibia, Short neck, Abnormal rib morpho... |
OMIM:251230 |
Multiple Pterygium Syndrome, X-Linked |
|
Multiple pterygia, Joint dislocation, Thin ribs, Abnormal cervical curvature, Vertebral fusion, S... |
OMIM:312150 |
Cleidocranial Dysplasia |
|
Narrow chest, Coxa vara, Short clavicles, Clinodactyly of the 5th finger, Down-sloping shoulders,... |
ORPHA:1452 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Beaking of vertebral bodies, Kyphoscoliosis, Splenomegaly, Ovoid thoracolumbar ve... |
OMIM:252930 |
1P36 Deletion Syndrome |
|
Bifid ribs, Rib fusion, Annular pancreas, Clinodactyly of the 5th finger, Kyphosis, Spinal canal ... |
ORPHA:1606 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Vacuolated l... |
OMIM:230500 |
Holt-Oram Syndrome |
|
Aplasia of the ulna, Short clavicles, Thoracic scoliosis, Pectus excavatum, Absent thumb, Hypopla... |
OMIM:142900 |
Ellis-Van Creveld Syndrome |
|
Narrow chest, Acetabular spurs, Short ribs, Cone-shaped epiphyses of phalanges 2 to 5, Pectus car... |
OMIM:225500 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Tibial bowing, Radial bowing, Thin ribs, Femoral retroversion, Femoral bowing, Barrel-s... |
OMIM:610915 |
Orofaciodigital Syndrome Iii |
|
Kyphosis, Pectus excavatum, Short sternum, Postaxial hand polydactyly, Postaxial foot polydactyly |
OMIM:258850 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Pectus carinatum, Hyperlordosis, Ab... |
ORPHA:3068 |
Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Horizontal sacrum, Barrel-shaped chest, Platyspondyly, 11 p... |
OMIM:215140 |
Renpenning Syndrome |
|
Sprengel anomaly, Clinodactyly of the 5th finger, Pectus excavatum, Abnormal rib morphology, Abno... |
ORPHA:3242 |
Multiple Pterygium Syndrome, Lethal Type |
|
Multiple pterygia, Joint dislocation, Thin ribs, Abnormal cervical curvature, Vertebral fusion, S... |
OMIM:253290 |
Frontometaphyseal Dysplasia 1 |
|
Craniosynostosis, Increased density of long bone diaphyses, Scapular winging, Genu valgum, Partia... |
OMIM:305620 |
Cantú Syndrome |
|
Short distal phalanx of finger, Narrow chest, Broad hallux phalanx, Short neck, Platyspondyly, Sh... |
ORPHA:1517 |
Craniometadiaphyseal Dysplasia |
|
Flared metaphysis, Scoliosis, Genu varum, Wormian bones, Genu valgum, Broad ribs, Cubitus valgus,... |
OMIM:269300 |
Gracile Bone Dysplasia |
|
Thin ribs, Flared metaphysis, Brachydactyly, Slender long bone, Hypoplastic spleen, Asplenia |
OMIM:602361 |
Osteogenesis Imperfecta, Type X |
|
Narrow chest, Thin ribs, Platyspondyly, Scoliosis, Genu valgum, Broad ribs, Bowing of the long bo... |
OMIM:613848 |
Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Short neck, Pectus carinatum, Abnormal epiphysis morphology, Bowin... |
ORPHA:175 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Long hallux, Delayed tarsal ossification, Delayed ossification o... |
OMIM:600002 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Thyroid hypoplasia, Radial head subluxation, Polydactyly affecting the 4th finger,... |
ORPHA:672 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Narrow chest, Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Later... |
OMIM:208500 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Short distal phalanx of finger, Narrow chest, Thin ribs, Triangular shaped distal phalanges of th... |
ORPHA:73230 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Clinodactyly of the 5th finger, Scoliosis, Abnormal form of the vertebral bodies, Aplas... |
ORPHA:2769 |
Xylt1-Cdg |
|
Short clavicles, Joint dislocation, Flared metaphysis, Short femoral neck, Broad thumb, Broad rib... |
ORPHA:370930 |
Antley-Bixler Syndrome |
|
Narrow chest, Elbow ankylosis, Craniosynostosis, Arachnodactyly, Femoral bowing, Camptodactyly of... |
ORPHA:83 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Delayed proximal femoral epiphyseal ossification, Short neck, 11 pairs of ribs, Platyspondyly, Ge... |
OMIM:271640 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Trapezoidal distal femoral condyles, Flared iliac wing, Craniosynostosis, Upp... |
ORPHA:89936 |
Acrorenal-Mandibular Syndrome |
|
Absent nipple, Narrow chest, Kyphoscoliosis, Butterfly vertebrae, Thin ribs, Split foot, Hypoplas... |
OMIM:200980 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Cryptorchidism, Thin ribs |
ORPHA:456328 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Joint swelling, Neutrophilia, Splenomegaly, Fused cervical vertebrae, Flaring of rib cage, Broad ... |
OMIM:612852 |
Mosaic Trisomy 8 |
|
Vertebral segmentation defect, Narrow chest, Clinodactyly of the 5th finger, Camptodactyly of fin... |
ORPHA:96061 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Unilateral chest hypoplasia, Abnormality of the vertebral column, Scoliosis, Postaxial hand polyd... |
OMIM:308205 |
Radio-Renal Syndrome |
|
Hypoplasia of the radius, Short neck, Brachydactyly, Abnormal form of the vertebral bodies, Abnor... |
ORPHA:3015 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Popliteal pterygium, Scoliosis, Abnormal rib morphology, Split hand, Cryptorchidism, Finger synda... |
ORPHA:1300 |
Van Den Ende-Gupta Syndrome |
|
Pectus excavatum, Craniosynostosis, Femoral bowing, Tapered finger, Glenoid fossa hypoplasia, Lon... |
OMIM:600920 |
Trisomy 13 |
|
Narrow chest, Ectrodactyly, Kyphosis, Scoliosis, Postaxial hand polydactyly, Abnormal rib morphol... |
ORPHA:3378 |
Basal Cell Nevus Syndrome |
|
Bifid ribs, Sprengel anomaly, Short distal phalanx of the thumb, Vertebral wedging, Kyphoscoliosi... |
OMIM:109400 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Narrow chest, Lateral clavicle hook, Short ribs, Pancreatic fibrosis, Platyspondyly, Brachydactyl... |
OMIM:263520 |
Occipital Horn Syndrome |
|
Narrow chest, Kyphosis, Short clavicles, Pectus excavatum, Coxa valga, Short humerus, Platyspondy... |
OMIM:304150 |
Alagille Syndrome |
|
Short distal phalanx of finger, Vertebral segmentation defect, Clinodactyly of the 5th finger, Ab... |
ORPHA:52 |
Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Congenital hip dislocation, Abnormal rib morphology, Missing ribs... |
ORPHA:1647 |
Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Lumbar hyperlordosis, Kyphoscoliosis, Prominent s... |
OMIM:253200 |
Craniofaciofrontodigital Syndrome |
|
Hypoplastic vertebral bodies, Pectus excavatum, Short neck, Hypoplastic pelvis, Cubitus valgus, B... |
OMIM:114620 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bifid ribs, Rib fusion, Clinodactyly of the 5th finger, Camptodactyly of finger, Brachydactyly, 1... |
OMIM:607872 |
Meier-Gorlin Syndrome 1 |
|
Absent glenoid fossa, Hemivertebrae, Pectus carinatum, Genu valgum, Elbow dislocation, Absent ste... |
OMIM:224690 |
Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Bowing of the long bones, Short long bone, Thoracic hypoplasia, Acetabular... |
ORPHA:1505 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs, Cryptorchidism, Aplasia/Hyp... |
ORPHA:3301 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Prominent sternum, Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Hemivertebrae, Shor... |
OMIM:276820 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Rib fusion, Kyphoscoliosis, Lumbar hyperlordosis, Absent thumb, Arachnodactyly, Hemivertebrae, Sl... |
ORPHA:500150 |
Osteogenesis Imperfecta, Type Vii |
|
Narrow chest, Coxa vara, Bowing of the legs, Pectus excavatum, Multiple rib fractures, Femoral re... |
OMIM:610682 |
Hurler Syndrome |
|
Spinal canal stenosis, Abnormal clavicle morphology, Splenomegaly, Camptodactyly of finger, Short... |
ORPHA:93473 |
Craniorachischisis |
|
Bifid sternum |
ORPHA:63260 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254534 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Pectus excavatum, Craniosynostosis, Hypoplasia of the radius, Short neck, Hypoplasia of the ulna,... |
OMIM:609945 |
Otopalatodigital Syndrome Type 2 |
|
Narrow chest, Carpal synostosis, Flared iliac wing, Preaxial polydactyly, Abnormal vertebral segm... |
ORPHA:90652 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Kyphosis, Pectus excavatum, Arachnodactyly, Camptodactyly of finger, Prominent metopic ridge, Sco... |
ORPHA:2215 |
Vacterl/Vater Association |
|
Vertebral segmentation defect, Preaxial hand polydactyly, Aplasia/Hypoplasia of the radius, Abnor... |
ORPHA:887 |
Fibrous Dysplasia Of Bone |
|
Abnormality of femur morphology, Coxa vara, Elevated circulating growth hormone concentration, Ab... |
ORPHA:249 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Small hand, Short neck, Broad femoral neck, Spina bifida occulta, Abnormal rib morphology, Short ... |
ORPHA:488434 |
Trisomy 1Q |
|
Arachnodactyly, Camptodactyly of finger, Abnormal rib morphology, Short thorax, Cryptorchidism, P... |
ORPHA:261344 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Annular pancreas, Butterfly vertebrae, Posterior rib fusion, Asplenia |
OMIM:265380 |
Aspergillosis |
|
Eosinophilia, Abnormality of the vertebral column, Abnormal rib morphology, Abnormal long bone mo... |
ORPHA:1163 |
Renal Dysplasia-Limb Defects Syndrome |
|
Aplasia of the ulna, Short sternum, Short metacarpal, Thin ribs, Short ribs, Hypoplasia of the ra... |
OMIM:266910 |
Schwartz-Jampel Syndrome |
|
Pectus excavatum, Abnormally ossified vertebrae, Short neck, Platyspondyly, Pectus carinatum, Gen... |
ORPHA:800 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elbow ankylosis, Craniosynostosis, Femoral bowing, Radioulnar synostosis, Bowing of the long bone... |
ORPHA:95699 |
Dextrocardia |
|
Abnormal rib morphology, Congenital hip dislocation, Abnormality of the spleen, Pancreatic hypopl... |
ORPHA:1666 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow chest, Narrow greater sciatic notch, Postaxial polydactyly, Short ribs, Preaxial polydacty... |
OMIM:617925 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Narrow chest, Short clavicles, Postaxial polydactyly, Short ribs, Splenomegaly, Cone-shaped epiph... |
OMIM:617088 |
Myhre Syndrome |
|
Large iliac wing, Cryptorchidism, Abnormality of the pubic bone, Brachydactyly, Platyspondyly, Ab... |
ORPHA:2588 |
Monosomy 9Q22.3 |
|
Kyphosis, Pectus excavatum, Short neck, Abnormality of the vertebral column, Polydactyly, Abnorma... |
ORPHA:77301 |
Osteogenesis Imperfecta |
|
Abnormality of femur morphology, Pectus excavatum, Femoral bowing, Biconcave vertebral bodies, Pe... |
ORPHA:666 |
Coffin-Lowry Syndrome |
|
Drumstick terminal phalanges, Kyphosis, Pectus excavatum, Hyperextensibility of the finger joints... |
OMIM:303600 |
Cerebrocostomandibular Syndrome |
|
Calcaneal epiphyseal stippling, Clinodactyly of the 5th finger, Rib gap, Anomalous rib insertion ... |
OMIM:117650 |
Ulbright-Hodes Syndrome |
|
Aplasia/Hypoplasia of the ulna, Short sternum, Short metacarpal, Thin ribs, Short ribs, Hypoplasi... |
ORPHA:3404 |
Simpson-Golabi-Behmel Syndrome |
|
Vertebral segmentation defect, Short toe, Clinodactyly of the 5th finger, Short 2nd finger, Super... |
ORPHA:373 |
Autosomal Recessive Malignant Osteopetrosis |
|
Narrow chest, Craniosynostosis, Splenomegaly, Abnormal rib morphology, Abnormal epiphysis morphol... |
ORPHA:667 |
Ear-Patella-Short Stature Syndrome |
|
Clinodactyly of the 5th finger, Craniosynostosis, Camptodactyly of finger, Slender long bone, Apl... |
ORPHA:2554 |
Monosomy 9P |
|
Short neck, Abnormality of the vertebral column, Scoliosis, Postaxial hand polydactyly, Abnormal ... |
ORPHA:261112 |
Vater/Vacterl Association |
|
Abnormal sternum morphology, Hypoplasia of the radius, Preaxial polydactyly, Syndactyly, Scoliosi... |
OMIM:192350 |
Pagod Syndrome |
|
Abnormal rib morphology, Abnormal clavicle morphology, Abnormality of the spleen, Abnormal testis... |
ORPHA:991 |
Trisomy 18 |
|
Abnormal hip bone morphology, Camptodactyly of finger, Deviation of finger, Postaxial hand polyda... |
ORPHA:3380 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Splenomegaly, Avascular necrosis of the capital femoral epiphysis, ... |
ORPHA:581 |
Smith-Lemli-Opitz Syndrome |
|
Kyphosis, 2-3 toe syndactyly, Split hand, Short neck, Brachydactyly, Scoliosis, Abnormal form of ... |
ORPHA:818 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormal hip bone morphology, Camptodactyly of finger, Abnormal rib morphology, Abnormal metacarp... |
ORPHA:2907 |
Kindler Epidermolysis Bullosa |
|
Camptodactyly of finger, Abnormal rib morphology, Short 4th metacarpal, Short 5th metacarpal, Ane... |
ORPHA:2908 |
Oculocerebrorenal Syndrome Of Lowe |
|
Joint swelling, Kyphosis, Anemia, Platyspondyly, Scoliosis, Arthritis, Abnormal rib morphology, T... |
ORPHA:534 |
Townes-Brocks Syndrome |
|
Clinodactyly of the 5th finger, Toe clinodactyly, Partial duplication of thumb phalanx, Broad hal... |
ORPHA:857 |
Alagille Syndrome 1 |
|
Short distal phalanx of finger, Hemivertebrae, Hypoplasia of the ulna, Abnormal rib morphology, B... |
OMIM:118450 |
Charge Syndrome |
|
Clinodactyly of the 5th finger, Hemivertebrae, Brachydactyly, Anterior hypopituitarism, Abnormali... |
ORPHA:138 |
Charge Syndrome |
|
Hypoparathyroidism, Absent tibia, Lymphopenia, Decreased response to growth hormone stimulation t... |
OMIM:214800 |