Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Costal cartilage calcification, Costochondral pain, Intervertebral disk calcification |
OMIM:118610 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Scoliosis, Rib fusion, Hypoplasia of the odontoid process, Vertebral segmentation defec... |
OMIM:609813 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Hemivertebrae, Vertebral clefting, Rib fusion, Short neck, Vertebral segmentation defect |
OMIM:608681 |
Sprengel Deformity |
|
Cervical segmentation defect, Hemivertebrae, Rib segmentation abnormalities, Sprengel anomaly, Sp... |
OMIM:184400 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Pectus carinatum, Posterior rib fusion, Mis... |
OMIM:122600 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... |
OMIM:277300 |
Thoracic Dysostosis, Isolated |
|
Bell-shaped thorax, Pectus excavatum, Short ribs |
OMIM:187750 |
Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormal rib morphology, Scoliosis, Pectus carinatum |
ORPHA:3268 |
Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs, Scoliosis, Hemivertebrae |
OMIM:604919 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Missing ribs, Short thorax,... |
OMIM:613686 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Sclerotic v... |
ORPHA:2790 |
Bone Dysplasia, Lethal, Holmgren Type |
|
Bell-shaped thorax, Narrow chest, Short ribs |
OMIM:211120 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Abnormal form of the vertebral bodies, Short thorax,... |
ORPHA:1801 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Abnormal sacrum morphology, Posterior rib fusion, Short thorax, Missing ribs, Spina bifida occult... |
ORPHA:1797 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal form of the vertebral bodies, Abnormal rib morphology, Narrow chest, Kyphosis |
ORPHA:1354 |
Thoracolaryngopelvic Dysplasia |
|
Horizontal ribs, Irregular chondrocostal junctions, Irregular vertebral endplates, Short ribs, Be... |
OMIM:187760 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Flared, irregular rib ends, Platyspondyly |
ORPHA:168555 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Gracile Bone Dysplasia |
|
Failure to thrive, Hypoplastic spleen, Asplenia |
OMIM:602361 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia |
ORPHA:3204 |
Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Abnormal sacrum morphology, Abnormal vertebral segmentation ... |
ORPHA:2345 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Metatropic Dysplasia |
|
Long thorax, Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Kyph... |
ORPHA:2635 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
Osteogenesis Imperfecta, Type Ix |
|
Pectus excavatum, Pectus carinatum, Platyspondyly, Kyphosis, Beaded ribs, Scoliosis |
OMIM:259440 |
Mirage Syndrome |
|
Leukopenia, Anemia, Lymphopenia, Thrombocytopenia, Decreased body weight, Hypoplastic spleen |
OMIM:617053 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short neck, Vertebral segmentation defect, Abnormal rib morphology |
ORPHA:2578 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Horizontal ribs, Lateral clavicle hook, Narrow chest, Bell-shaped thorax, Thoracic dysplasia |
OMIM:615633 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Pectus excavatum, Abnormal clavicle morphology, Fused cervical vertebrae, Kyphosis, Abnormal rib ... |
ORPHA:2522 |
Poland Syndrome |
|
Sprengel anomaly, Short ribs, Hemivertebrae, Rib fusion |
OMIM:173800 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Thrombocytosis, Asplenia, Lymphadenopathy, Coombs-positive hemolytic anemia, Cervic... |
OMIM:614034 |
Becker Nevus Syndrome |
|
Pectus excavatum, Pectus carinatum, Kyphosis, Supernumerary ribs, Rib fusion, Spina bifida occult... |
ORPHA:64755 |
Hypoglossia With Situs Inversus |
|
Polysplenia, Asplenia |
OMIM:612776 |
Osteogenesis Imperfecta, Type Xv |
|
Thin ribs, Scoliosis, Platyspondyly |
OMIM:615220 |
Axial Spondylometaphyseal Dysplasia |
|
Thoracic hypoplasia, Posterior wedging of vertebral bodies, Flaring of lower rib cage, Aplasia/Hy... |
ORPHA:168549 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology |
ORPHA:1513 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Platyspondyly, Narrow chest, Abnormal rib morphology, Short neck |
ORPHA:93267 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Short ribs, Severe platyspondyly, Narrow chest, Disc-like vertebral bodies, Short neck |
OMIM:151210 |
Hyperparathyroidism, Transient Neonatal |
|
Narrow chest, Thin ribs, Short ribs |
OMIM:618188 |
Jeune Syndrome |
|
Abnormal sternum morphology, Abnormal clavicle morphology, Short thorax, Narrow chest, Abnormal r... |
ORPHA:474 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Short thorax, Rib... |
ORPHA:2311 |
Pearson Syndrome |
|
Hepatomegaly, Neutropenia, Thrombocytopenia, Small for gestational age, Macronodular cirrhosis, B... |
ORPHA:699 |
Stormorken Syndrome |
|
Thrombocytopenia, Howell-Jolly bodies, Anemia, Asplenia |
OMIM:185070 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Biconcave vertebral bodies, Short clavicles, Short ribs, Broad ribs, Short neck, Scoliosis |
OMIM:610319 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology, Hemivertebrae |
ORPHA:2234 |
Mosaic Trisomy 14 |
|
Short neck, Narrow chest, Abnormal rib morphology |
ORPHA:1703 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hemivertebrae, Abnormal form of the vertebral bodies, Sprengel anomaly, Abnormal rib morphology, ... |
ORPHA:2180 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Platyspondyly, Cupped ribs, Scoliosis... |
OMIM:609616 |
Achondrogenesis Type 1B |
|
Short neck, Narrow chest, Short thorax, Abnormal rib morphology |
ORPHA:93298 |
Microphthalmia, Syndromic 9 |
|
Hypoplastic spleen, Multilobulated spleen |
OMIM:601186 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis |
OMIM:615415 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:93941 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Abnormal form of the vertebral bodies, Short ribs, Narrow chest, Abnormal r... |
ORPHA:2021 |
Achondrogenesis, Type Ia |
|
Short clavicles, Hypoplastic scapulae, Unossified vertebral bodies, Short ribs, Beaded ribs, Barr... |
OMIM:200600 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Abnormal rib morphology |
ORPHA:1836 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Hemivertebrae, Thin ribs, Missing ribs, Short ribs, Supernumerary vertebrae, Bl... |
OMIM:271520 |
White Forelock With Malformations |
|
Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology |
ORPHA:2475 |
Femoral-Facial Syndrome |
|
Abnormal sacrum morphology, Sprengel anomaly, Abnormal rib morphology, Rib fusion, Vertebral segm... |
ORPHA:1988 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Sprengel anomaly, Narrow chest, Abnormal rib morphology |
ORPHA:2097 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:1486 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Osteogenesis Imperfecta, Type Xvi |
|
Beaded ribs, Vertebral compression fracture |
OMIM:616229 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Thin ribs, Irregular vertebral endplates, Platyspondyly, Short neck, Scoliosis |
OMIM:618395 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Missing ribs, Abnormal form of the vertebral bodies, Abnormal rib morphology, Hemivertebrae |
ORPHA:2759 |
Holt-Oram Syndrome |
|
Pectus excavatum, Abnormal clavicle morphology, Kyphosis, Sprengel anomaly, Down-sloping shoulder... |
ORPHA:392 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Kyphosis, Abnormal rib morph... |
ORPHA:628 |
Achondrogenesis, Type Ii |
|
Horizontal ribs, Barrel-shaped chest, Short ribs, Absent vertebral body mineralization |
OMIM:200610 |
Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Pectus carinatum, Short thorax, Platyspondyly, Kyphosis, Abnormal rib morp... |
ORPHA:582 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Iron deficiency anemia, Chronic hepatitis, Hepatitis, Cirrhosis, Thymoma, Exocrine panc... |
OMIM:269200 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... |
OMIM:208540 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Abnormal rib morphology, Platyspondyly, Pectus carinatum |
ORPHA:93351 |
Juberg-Hayward Syndrome |
|
Abnormal rib morphology, Scoliosis, Abnormal vertebral morphology |
ORPHA:2319 |
Cat-Eye Syndrome |
|
Abnormal rib morphology |
ORPHA:195 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Short neck, Abnormal rib morphology, Pectus carinatum, Kyphosis |
ORPHA:3082 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, Hepatitis, Autoimmune thrombocyt... |
ORPHA:227990 |
Cooper-Jabs Syndrome |
|
Missing ribs, Abnormal rib morphology, Scoliosis |
ORPHA:1488 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology |
ORPHA:2643 |
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome |
|
Vertebral fusion, Hemivertebrae, 11 pairs of ribs, Narrow chest, Rib fusion, Short neck, Scoliosis |
ORPHA:94095 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormal form of the vertebral bodies, Missing ribs, Abnormal rib morphology, Short neck, Vertebr... |
ORPHA:1834 |
Melnick-Needles Syndrome |
|
Short clavicles, Short thorax, Anisospondyly, Abnormal rib morphology, Narrow chest, Scoliosis |
ORPHA:2484 |
Osteogenesis Imperfecta, Type X |
|
Thin ribs, Platyspondyly, Vertebral compression fracture, Narrow chest, Broad ribs, Scoliosis |
OMIM:613848 |
Renpenning Syndrome |
|
Sprengel anomaly, Pectus excavatum, Abnormal rib morphology |
ORPHA:3242 |
Prune Belly Syndrome |
|
Pectus excavatum, Vertebral segmentation defect, Scoliosis, Abnormal rib morphology |
ORPHA:2970 |
Microgastria-Limb Reduction Defects Association |
|
Asplenia, Failure to thrive, Splenogonadal fusion, Absent gallbladder, Biliary tract abnormality |
OMIM:156810 |
Hypophosphatasia |
|
Narrow chest, Abnormal rib morphology |
ORPHA:436 |
Cole-Carpenter Syndrome |
|
Abnormal form of the vertebral bodies, Scoliosis, Abnormal rib morphology, Kyphosis |
ORPHA:2050 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, Hepatitis, Autoimmune thrombocyt... |
ORPHA:227982 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal sternum morphology, Broad ribs, Abnormal rib morphology, Short ribs |
ORPHA:2519 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology |
ORPHA:2772 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal rib morphology, Hyperlordosis, Pectus carinatum |
ORPHA:3068 |
Right Atrial Isomerism |
|
Abdominal situs ambiguus, Polysplenia, Asplenia |
OMIM:208530 |
Phaver Syndrome |
|
Abnormal form of the vertebral bodies, Abnormal rib morphology, Butterfly vertebrae |
ORPHA:2876 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:3035 |
Heterotaxy, Visceral, 1, X-Linked |
|
Abdominal situs inversus, Asplenia, Failure to thrive, Biliary atresia, Polysplenia |
OMIM:306955 |
Cardiofacioneurodevelopmental Syndrome |
|
Abdominal situs inversus, Asplenia |
OMIM:619123 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Chronic active hepatitis, Cholelithiasis, Asplenia |
OMIM:240300 |
Trisomy 13 |
|
Narrow chest, Scoliosis, Abnormal rib morphology, Kyphosis |
ORPHA:3378 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia |
OMIM:244400 |
Sweeney-Cox Syndrome |
|
Asplenia |
OMIM:617746 |
Primary Ciliary Dyskinesia |
|
Polysplenia, Asplenia |
ORPHA:244 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal rib morphology |
ORPHA:2145 |
Poland Syndrome |
|
Hemivertebrae, Pectus carinatum, Abnormal sternum morphology, Asymmetry of the thorax, Missing ri... |
ORPHA:2911 |
Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Abnormal rib morphology, Abnormal thorax morphology |
ORPHA:1318 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:2167 |
Alagille Syndrome |
|
Abnormal form of the vertebral bodies, Spina bifida occulta, Abnormal rib morphology, Butterfly v... |
ORPHA:52 |
Familial Osteodysplasia, Anderson Type |
|
Abnormal form of the vertebral bodies, Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib mo... |
ORPHA:2769 |
Feingold Syndrome 1 |
|
Accessory spleen, Polysplenia, Asplenia, Annular pancreas |
OMIM:164280 |
Osteogenesis Imperfecta, Type Viii |
|
Thin ribs, Platyspondyly, Kyphosis, Barrel-shaped chest, Vertebral compression fracture, Scoliosis |
OMIM:610915 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Asplenia, Annular pancreas |
ORPHA:210122 |
Pyknoachondrogenesis |
|
Poorly ossified vertebrae, Horizontal ribs, Short thorax, Unossified sacrum, Short ribs, Enlarged... |
ORPHA:3003 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Vertebral segmentation defect, Abnormal rib morphology |
ORPHA:1120 |
Cleidocranial Dysplasia |
|
Short clavicles, Hypoplastic scapulae, Abnormal sacrum morphology, Down-sloping shoulders, Narrow... |
ORPHA:1452 |
Cartilage-Hair Hypoplasia |
|
Flaring of lower rib cage, Pectus carinatum, Abnormal form of the vertebral bodies, Biconvex vert... |
ORPHA:175 |
Cenani-Lenz Syndrome |
|
Abnormal form of the vertebral bodies, Scoliosis, Abnormal rib morphology |
ORPHA:3258 |
Tetraamelia-Multiple Malformations Syndrome |
|
Missing ribs, Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:3301 |
Mosaic Trisomy 9 |
|
Abnormal liver lobulation, Asplenia |
ORPHA:99776 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Narrow chest, Abnormal rib morphology, Platyspondyly, Abnormal scapula morphology |
ORPHA:93317 |
Mosaic Trisomy 8 |
|
Narrow chest, Abnormal rib morphology, Short neck, Vertebral segmentation defect, Scoliosis |
ORPHA:96061 |
Vacterl/Vater Association |
|
Abnormal sacrum morphology, Abnormal intervertebral disk morphology, Vertebral segmentation defec... |
ORPHA:887 |
Aspergillosis |
|
Abnormality of the vertebral column, Abnormal rib morphology |
ORPHA:1163 |
Hurler Syndrome |
|
Spinal canal stenosis, Abnormal vertebral morphology, Abnormal clavicle morphology, Abnormal rib ... |
ORPHA:93473 |
Radio-Renal Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:3015 |
Oculocerebrocutaneous Syndrome |
|
Missing ribs, Abnormal rib morphology |
ORPHA:1647 |
Schwartz-Jampel Syndrome |
|
Pectus excavatum, Shoulder flexion contracture, Pectus carinatum, Abnormally straight spine, Plat... |
ORPHA:800 |
Meckel Syndrome, Type 1 |
|
Malformation of the hepatic ductal plate, Asplenia, Bile duct proliferation, Splenomegaly, Access... |
OMIM:249000 |
Meckel Syndrome |
|
Pancreatic cysts, Asplenia, Congenital hepatic fibrosis, Accessory spleen, Cystic liver disease, ... |
ORPHA:564 |
Antley-Bixler Syndrome |
|
Narrow chest, Abnormal rib morphology |
ORPHA:83 |
Monosomy 9Q22.3 |
|
Abnormality of the vertebral column, Pectus excavatum, Kyphosis, Abnormal rib morphology, Short neck |
ORPHA:77301 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Abnormal rib morphology, Scoliosis |
ORPHA:1300 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Pectus excavatum, Abnormal rib morphology, Scoliosis, Kyphosis |
ORPHA:2215 |
Osteogenesis Imperfecta |
|
Biconcave vertebral bodies, Thoracic hypoplasia, Pectus excavatum, Thin ribs, Pectus carinatum, M... |
ORPHA:666 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormality of the cervical spine, Abnormal lumbar spine morphology... |
ORPHA:249 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal vertebral segmentation and fusion, Narrow chest, Scoliosis, Abnormal rib morphology |
ORPHA:90652 |
Trisomy 1Q |
|
Abnormal rib morphology, Short thorax |
ORPHA:261344 |
Tetraamelia Syndrome 1 |
|
Asplenia |
OMIM:273395 |
Pseudoaminopterin Syndrome |
|
Asplenia |
ORPHA:221120 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Short neck, Spina bifida occulta, Abnormal rib morphology |
ORPHA:488434 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Scoliosis, Abnormal rib morp... |
ORPHA:581 |
Myhre Syndrome |
|
Abnormal rib morphology, Platyspondyly |
ORPHA:2588 |
Simpson-Golabi-Behmel Syndrome |
|
Pectus excavatum, Vertebral fusion, Abnormal rib morphology, Short neck, Vertebral segmentation d... |
ORPHA:373 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary lymphangiectasia, Asplenia, Annular pancreas |
OMIM:265380 |
Dextrocardia |
|
Abnormal rib morphology |
ORPHA:1666 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypoplastic scapulae, Abnormal vertebral morphology, Narrow chest, Abnormal rib morphology, Scoli... |
ORPHA:95699 |
Monosomy 9P |
|
Abnormality of the vertebral column, Short neck, Abnormal rib morphology, Scoliosis |
ORPHA:261112 |
Ulbright-Hodes Syndrome |
|
Ovoid thoracolumbar vertebrae, Thin ribs, Short ribs, Short sternum, Abnormal rib morphology, Sho... |
ORPHA:3404 |
Heterotaxy, Visceral, 5, Autosomal |
|
Abdominal situs ambiguus, Abdominal situs inversus, Asplenia |
OMIM:270100 |
Smith-Lemli-Opitz Syndrome |
|
Abnormal form of the vertebral bodies, Kyphosis, Abnormal rib morphology, Short neck, Scoliosis |
ORPHA:818 |
Trisomy 18 |
|
Abnormal rib morphology |
ORPHA:3380 |
Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal rib morphology, Scoliosis, Platyspondyly, Kyphosis |
ORPHA:534 |
Pagod Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:991 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormal rib morphology |
ORPHA:2907 |
Ear-Patella-Short Stature Syndrome |
|
Abnormal rib morphology, Aplastic clavicle |
ORPHA:2554 |
Charge Syndrome |
|
Abnormal rib morphology, Scoliosis, Hemivertebrae |
ORPHA:138 |
Autosomal Recessive Malignant Osteopetrosis |
|
Narrow chest, Abnormal rib morphology |
ORPHA:667 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Failure to thrive, Asplenia |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Decreased body weight, Asplenia |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Failure to thrive, Asplenia |
ORPHA:261552 |
Kindler Epidermolysis Bullosa |
|
Abnormal rib morphology |
ORPHA:2908 |
Townes-Brocks Syndrome |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:857 |