Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal rib morphology, Clavicular sclero... |
ORPHA:2790 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Radioulnar synostosis, Abnormal rib morphology, Pectus carinatum |
ORPHA:3268 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal rib morphology, Abnormal tricuspid valv... |
ORPHA:1354 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal rib morphology |
ORPHA:1513 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffness, Abnormal rib morpholo... |
ORPHA:2635 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffness, Short thorax, Limitat... |
ORPHA:1801 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph... |
OMIM:122860 |
Grant Syndrome |
|
Abnormal cortical bone morphology, Abnormal rib morphology, Joint hyperflexibility, Narrow chest,... |
ORPHA:2097 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Lateral clavicle hook, Obesity, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ... |
OMIM:615633 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Ventricular septal defect, Abnormal rib morphology, Na... |
ORPHA:93267 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fractures, Pectus carinatum... |
OMIM:259440 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Failure to thrive, Abnormal rib morphology, Narrow chest |
ORPHA:1703 |
Achondrogenesis Type 1B |
|
Femoral hernia, Abnormal enchondral ossification, Short thorax, Abnormal rib morphology, Narrow c... |
ORPHA:93298 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Recurrent fractures, Abnormal rib morphology, Joint hyperflexibility, ... |
ORPHA:2772 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoarthritis, Limitation of joint mobility, Abnormal rib morphology, Osteoporosis, Pectus carin... |
ORPHA:93351 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs... |
ORPHA:1488 |
Hypophosphatasia |
|
Failure to thrive in infancy, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Nar... |
ORPHA:436 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Enlargement of the costochondral junction, Delayed epiphyseal ossification, ... |
OMIM:600081 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Multiple rib fractures, Ventricular septal defect, Fractured radius, Small for gestat... |
OMIM:616897 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Ventricular septal defect, Small for gestational age, Large for gestational age, Abn... |
ORPHA:254534 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Femoral hernia, Recurrent fractures, Abnormal enchondral ossification, Sh... |
ORPHA:93299 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Ventricular septal defect, Down-sloping shoulders, Joint stiffness,... |
ORPHA:392 |
Osteogenesis Imperfecta, Type Ii |
|
Small for gestational age, Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Absent ... |
OMIM:166210 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Flaring of lower rib cage, Cupped... |
ORPHA:168549 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs |
OMIM:617405 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Enlargement of the costochondral junction, Delayed epiphyseal ossification, ... |
OMIM:241530 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Supernumerary vertebral ossification centers, Contracture of the proximal interphalangeal joint o... |
OMIM:609813 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib morphology |
ORPHA:276422 |
Mucopolysaccharidosis Type 4 |
|
Abnormal heart valve morphology, Abnormal dental enamel morphology, Grayish enamel, Short thorax,... |
ORPHA:582 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Abnormal rib morphology, Abnormal shoulder morphology, Cervical C2/C3 ... |
ORPHA:2345 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... |
OMIM:602196 |
Thoracolaryngopelvic Dysplasia |
|
Irregular chondrocostal junctions, Bell-shaped thorax, Short ribs, Slender build, Horizontal ribs |
OMIM:187760 |
Melnick-Needles Syndrome |
|
Omphalocele, Craniofacial hyperostosis, Short thorax, Abnormal rib morphology, Osteolytic defects... |
ORPHA:2484 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,... |
ORPHA:474 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Thin ribs, Decreased calvarial ossification, Decreased body weight, Arthrogrypo... |
OMIM:618265 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Multiple rib fractures, Small for gestational age, Recurrent fractures, Beaded ribs, ... |
OMIM:616229 |
Renpenning Syndrome |
|
Cachexia, Joint stiffness, Pectus excavatum, Abnormal rib morphology, Sprengel anomaly |
ORPHA:3242 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Failure to thrive in infancy, Periostitis, Osteolysis, Fused cervical ... |
OMIM:612852 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Bell-shaped thorax, Atrial septal defect, Lethargy, Failure to thrive, Horizonta... |
OMIM:614857 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of finger, Joint stif... |
ORPHA:628 |
Metatropic Dysplasia |
|
Abnormal enchondral ossification, Clavicular pseudarthrosis, Cupped ribs, Flexion contracture, Sh... |
OMIM:156530 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal cortical bone morphology, Limitation of joint mobility, Abnormal rib morphology, Recurre... |
ORPHA:1486 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Osteomalacia, Enlargement of the costochondral junction, Delayed epiphyseal oss... |
ORPHA:289157 |
White Forelock With Malformations |
|
Atrial septal defect, Joint hyperflexibility, Sprengel anomaly, Abnormal rib morphology |
ORPHA:2475 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Craniosynostosis, Congenital diaphragmatic hernia, Rib fusion, Obesity, Abnormal he... |
ORPHA:261197 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal cardiac septum morphology, Abnormal rib morphology, Cachexia |
ORPHA:93941 |
Achondrogenesis, Type Ia |
|
Barrel-shaped chest, Hypoplastic scapulae, Beaded ribs, Abnormal hand bone ossification, Short th... |
OMIM:200600 |
Poland Syndrome |
|
Sprengel anomaly, Short ribs, Rib fusion, Dextrocardia |
OMIM:173800 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Joint stiffness, Cardiomegaly, Asymmetric septal hypertrophy, Dense calvaria |
OMIM:252920 |
Mucopolysaccharidosis, Type Iiia |
|
Inguinal hernia, Thickened ribs, Joint stiffness, Asymmetric septal hypertrophy, Umbilical hernia... |
OMIM:252900 |
Nestor-Guillermo Progeria Syndrome |
|
Lipoatrophy, Left atrial enlargement, Limited elbow movement, Joint stiffness, Flexion contractur... |
OMIM:614008 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Recurrent fractures, Thin ribs, Umbilical hernia, Generalized ost... |
OMIM:617952 |
Becker Nevus Syndrome |
|
Lipoatrophy, Pectus excavatum, Rib fusion, Pectus carinatum, Supernumerary ribs |
ORPHA:64755 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Abnormal rib morphology, Obesity |
ORPHA:2234 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Eunuchoid habitus, Cardiomegaly, Pectus excavatum, Thin ribs, Loss of truncal subcuta... |
ORPHA:2463 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Cupped r... |
ORPHA:1145 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Short thorax, Posterior rib fusion, Abnormal rib morphology, Missing ribs |
ORPHA:1797 |
Prune Belly Syndrome |
|
Failure to thrive, Ventricular septal defect, Pectus excavatum, Abnormal rib morphology, Atrial s... |
ORPHA:2970 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Multiple rib fractures, Thoracic scoliosis, Joint laxity, Thin bony cortex, Inguinal ... |
OMIM:613848 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmati... |
ORPHA:2311 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, Abnormal rib morphology, Abnormal dental enamel morphology, Obesity |
ORPHA:2180 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Ventricular septal defect, Thoracic hypoplasia, Lateral clavicle hook, Short ribs, N... |
OMIM:617895 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Abnormal rib morphology |
ORPHA:2643 |
Femoral-Facial Syndrome |
|
Inguinal hernia, Rib fusion, Abnormal rib morphology, Radioulnar synostosis, Sprengel anomaly |
ORPHA:1988 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin clavicles, Thin ribs, Cortical thickening of long bone diaphyses, Decreased skull ossificati... |
ORPHA:93324 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies |
OMIM:307500 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal rib morphology, Craniosynostosis |
ORPHA:2145 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Thin ribs, Dec... |
OMIM:259420 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Decreased body weight, Flexion contracture, Thin ribs |
OMIM:614833 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Pectus excavatum, Abnormal clavicle morphology, Abnormal rib morphology, Fused cervical vertebrae |
ORPHA:2522 |
Cat-Eye Syndrome |
|
Abnormal rib morphology |
ORPHA:195 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Thin bony cortex, Antalgic gait, Osteomalacia, Fibrous dysplasia of... |
ORPHA:249 |
Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Abnormal rib morphology, Bell-shaped ... |
ORPHA:2021 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Waddling gait, Inguinal hernia, Abnormal heart valve morphology, Grayish enamel, Os... |
OMIM:253000 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Abnormal rib morphology, Anomalous pulmon... |
ORPHA:1120 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Akinesia, Flexion contracture, Increased susceptibility to fractures, Thin ribs... |
OMIM:253290 |
Lethal Congenital Contracture Syndrome 5 |
|
Congenital contracture, Flexion contracture, Small for gestational age, Thin ribs |
OMIM:615368 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Abnormal rib morphology, Tarsal synostosis, Synostosis of carpal bones |
ORPHA:1836 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Recurrent fractures, Pectus excavatum, Thin ribs, Lambdoidal craniosynostosis, Corona... |
OMIM:616294 |
Osteogenesis Imperfecta, Type Xv |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility, Thin ribs |
OMIM:615220 |
Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Increased bone mineral density, Failure to thrive, Abnormal heart valve morphology, ... |
ORPHA:90652 |
Mucopolysaccharidosis Type 6 |
|
Abnormal heart valve morphology, Joint stiffness, Hernia, Broad ribs, Failure to thrive |
ORPHA:583 |
Fibrochondrogenesis 1 |
|
Omphalocele, Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Patent foramen ovale, Th... |
OMIM:228520 |
Greenberg Dysplasia |
|
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Narrow chest,... |
OMIM:215140 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Osteopenia, Joint laxity, Inguinal hernia, Recurrent fractures, Multiple pre... |
OMIM:610915 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Joint stiffness, Asymmetric septal hypertrophy, Hernia, Dense calvaria |
OMIM:252930 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Thin clavicles, Thin ribs, Decreased skull ossification, Calvarial osteosclerosis |
OMIM:244460 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Atri... |
ORPHA:2519 |
Antley-Bixler Syndrome |
|
Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, Abnormal rib mor... |
ORPHA:83 |
Fibrochondrogenesis 2 |
|
Bell-shaped thorax, Cupped ribs, Short ribs, Thoracic hypoplasia |
OMIM:614524 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... |
OMIM:224300 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Block vertebrae, Dextrocardia, Missing ribs, Situs inversus totalis, Pectus exc... |
OMIM:613686 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Limitation of joint mobility, Abnormal rib morphology, Pectus carinatum |
ORPHA:3068 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Joint laxity, Inguinal hernia, Craniosynostosis, Lateral clavicle hook, Pectus excava... |
OMIM:182212 |
Frontometaphyseal Dysplasia 1 |
|
Scapular winging, Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flex... |
OMIM:305620 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Long clavicles, Ventricular septal defect, Flexion contracture, Thi... |
OMIM:608149 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Inguinal hernia, Recurrent fractures, Undulate ribs, Thin ribs, Subperiosteal bone fo... |
OMIM:618188 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:3035 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Joint hyperflexibility, Abnormal rib morphology, Missing ribs |
ORPHA:2759 |
Trisomy 13 |
|
Ventricular septal defect, Abnormal rib morphology, Narrow chest, Hernia, Atrial septal defect |
ORPHA:3378 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Cardiomegaly, Osteoporosis, Umbilical hernia, Narrow chest, Broa... |
ORPHA:1517 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Decreased skull ossification, Thin ribs |
OMIM:300863 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
Osteogenesis Imperfecta |
|
Osteopenia, Osteoarthritis, Flexion contracture, Pectus carinatum, Narrow chest, Loss of ambulati... |
ORPHA:666 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Inguinal hernia, Ataxia, Joint stiffness, Grayish enamel, Osteoporosis, Prominent s... |
OMIM:253010 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Hernia of the abdominal wall, Abnormal rib morphology, Pectus carinatum |
ORPHA:3082 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Beaded ribs, Generalized osteosclerosis, Enlargement of the co... |
ORPHA:89936 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Down-sloping shoulders, Recurrent fractures, Abnormal dental enamel morphol... |
ORPHA:1452 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Abnormal thorax morphology, Thin ribs, Hyperostosis, Narrow chest, Abnormal bone ossification, Ge... |
ORPHA:73230 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Flexion contracture, Increased susceptibility to fractures, Thin ribs, Hypoplas... |
OMIM:312150 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Horizontal inferior border of scapula, Inability to walk, Short thorax,... |
ORPHA:239 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Delayed ossification of carpal bones, Obesity, Thin ribs |
OMIM:618395 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Failure to thrive in infancy, Rib fusion, Posterior rib gap, Camp... |
OMIM:611209 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Sprengel anomaly |
OMIM:184400 |
Severe Congenital Nemaline Myopathy |
|
Increased connective tissue, Multiple prenatal fractures, Abnormal thorax morphology, Flexion con... |
ORPHA:171430 |
Phaver Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Abnormal rib morphology, Rad... |
ORPHA:2876 |
Poland Syndrome |
|
Dextrocardia, Aplasia/Hypoplasia of the sternum, Missing ribs, Congenital diaphragmatic hernia, A... |
ORPHA:2911 |
Trisomy 1Q |
|
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... |
ORPHA:261344 |
Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Flaring of lower rib cage, Short thorax, Abnormal rib morphology, ... |
ORPHA:175 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Inguinal hernia, ... |
ORPHA:800 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral fusion, Block vertebrae, Rib fusion |
OMIM:277300 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Broad ribs, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Joint laxity, Omphalocele, Inguinal hernia, Pectus excavatum, Flexion contracture, Prominent ster... |
ORPHA:254528 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology |
ORPHA:280195 |
Three M Syndrome 2 |
|
Scapular winging, Small for gestational age, Short thorax, Thin ribs, Pectus carinatum |
OMIM:612921 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Stiff neck, Cardiom... |
OMIM:617022 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Pectus excavatum, Limitation of joint mobility, Rib fus... |
ORPHA:2990 |
Gracile Bone Dysplasia |
|
Failure to thrive, Decreased skull ossification, Thin ribs |
OMIM:602361 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology |
ORPHA:2578 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... |
OMIM:118100 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Craniofacial hyperostosis, Inguinal hernia, Ataxia, Cardiomegaly, J... |
ORPHA:581 |
Premature Aging Syndrome, Penttinen Type |
|
Failure to thrive, Lipoatrophy, Recurrent fractures, Osteoporosis, Thin ribs, Cervical ribs, Oste... |
OMIM:601812 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Ataxia, Anterior rib cupping, Flexion contracture, Thin ribs, Prominent sternum, Thoracic kyphosis |
OMIM:300232 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Decreased cranial base ossification, Short ribs, Narrow chest, Thoracolumbar kyphosis,... |
OMIM:151210 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cupped ribs, Delayed ossification of carpal bones, Distal ulnar epiphyseal stippling |
OMIM:609616 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Short ribs, Horizontal ribs |
OMIM:200610 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Rib fusion |
OMIM:608681 |
3M Syndrome |
|
Scapular winging, Abnormal dental enamel morphology, Short thorax, Thin ribs, Enlarged thorax, Jo... |
ORPHA:2616 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology, Joint stiffness |
ORPHA:2167 |
Meier-Gorlin Syndrome 1 |
|
Joint laxity, Failure to thrive, Absent sternal ossification, Small for gestational age, Lateral ... |
OMIM:224690 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormal rib morphology |
OMIM:601076 |
Autosomal Dominant Centronuclear Myopathy |
|
Large for gestational age, Difficulty walking, Thin ribs |
ORPHA:169189 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
11 pairs of ribs, Joint laxity, Carpal synostosis, Ventricular septal defect, Bicuspid aortic val... |
OMIM:271640 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Delayed ossification of carpal bones, Delayed tarsal ossificatio... |
OMIM:600002 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Short thorax, Poorly ossified v... |
ORPHA:3003 |
Congenital Myopathy 22B, Severe Fetal |
|
Waddling gait, Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contracture, Sho... |
OMIM:620369 |
Pontine Tegmental Cap Dysplasia |
|
Ataxia, Failure to thrive, Rib fusion, Dysmetria |
OMIM:614688 |
Cenani-Lenz Syndrome |
|
Abnormal dental enamel morphology, Abnormal rib morphology, Radioulnar synostosis, Synostosis of ... |
ORPHA:3258 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Vertebral fusion, Inguinal hernia, Craniosynostosis, Lar... |
OMIM:213980 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Thin ribs, Decreased calvarial ossification, Short sternum, Short ribs, Atrial septal... |
OMIM:620076 |
Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Abnormal thorax morphology, Abnormal rib morphology |
ORPHA:1318 |
Osteopathia Striata With Cranial Sclerosis |
|
Omphalocele, Failure to thrive, Ventricular septal defect, Tracheomalacia, Pectus excavatum, Thor... |
OMIM:300373 |
Mucopolysaccharidosis, Type X |
|
Thickened aortic valve cusp, Spatulate ribs, Broad clavicles, Left ventricular hypertrophy, Broad... |
OMIM:619698 |
Juberg-Hayward Syndrome |
|
Radioulnar synostosis, Abnormal rib morphology |
ORPHA:2319 |
Gm1-Gangliosidosis, Type I |
|
Inguinal hernia, Thickened ribs, Abnormal heart valve morphology, Joint stiffness, Dilated cardio... |
OMIM:230500 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Abnormal rib morphology, Congenital diaphragmatic hernia, Missing ribs |
ORPHA:1834 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Alagille Syndrome |
|
Atrial septal defect, Abnormal rib morphology, Failure to thrive, Ventricular septal defect |
ORPHA:52 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs |
ORPHA:3301 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Abnormal heart valve morphology, Camptodactyly of finger, Limitatio... |
ORPHA:93473 |
Oculocerebrocutaneous Syndrome |
|
Abnormal rib morphology, Congenital diaphragmatic hernia, Missing ribs |
ORPHA:1647 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Down-sloping shoulders, Irregular ossification of hand bones, Cardiac fibroma, ... |
OMIM:109400 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Cupped ribs, Flat glenoid fossa, Obesity, Irregular chondrocostal junctions, Short ... |
OMIM:250420 |
Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Lethargy, Thin ribs |
OMIM:617397 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Inguinal hernia, Multiple joint contractures, Long clavicles, Down-sloping shoulders, Congenital ... |
OMIM:265000 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Abnormal rib morphology, Increased suscepti... |
ORPHA:2769 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Pectus excavatum, Abnormal rib morphology, Arthrogrypos... |
ORPHA:2215 |
Lymphangiectasia, Intestinal |
|
Prominent floating ribs |
OMIM:152800 |
Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Ventricular septal defect, Anomalous rib insertion t... |
OMIM:117650 |
Cole-Carpenter Syndrome |
|
Joint hyperflexibility, Abnormal dental enamel morphology, Abnormal rib morphology, Recurrent fra... |
ORPHA:2050 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Joint hypermobility, Thin ribs |
ORPHA:456328 |
Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Pectus carinatum, Short ribs, Narrow chest, Atrial septal defect, Common ... |
OMIM:225500 |
Occipital Horn Syndrome |
|
Joint laxity, Broad clavicles, Pectus excavatum, Capitate-hamate fusion, Hiatus hernia, Osteoporo... |
OMIM:304150 |
Xylt1-Cdg |
|
Joint laxity, Broad ribs, Truncal obesity, Short clavicles |
ORPHA:370930 |
Trisomy 18 |
|
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... |
ORPHA:3380 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Broad ribs, Sclerosis of skull base |
OMIM:269300 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Ventricular septal defect, Calcaneal epiphyseal stippling, Abnormal ossification involving the fe... |
ORPHA:79345 |
Monosomy 9Q22.3 |
|
Large for gestational age, Pectus excavatum, Abnormal rib morphology, Cardiac fibroma, Joint hype... |
ORPHA:77301 |
Aspergillosis |
|
Osteomyelitis, Abnormal rib morphology |
ORPHA:1163 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Thickened ribs, Ataxia, Craniosynostosis, Joint stiffness, Pectus excav... |
ORPHA:309282 |
Sclerosteosis 1 |
|
Sclerotic scapulae, Broad clavicles, Facial palsy secondary to cranial hyperostosis, Broad ribs, ... |
OMIM:269500 |
Van Den Ende-Gupta Syndrome |
|
Hypoplastic scapulae, Glenoid fossa hypoplasia, Craniosynostosis, Lateral clavicle hook, Pectus e... |
OMIM:600920 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Joint laxity, Hyperextensibility of the finger joints, Inguinal hernia, Broad clavicles, Humerora... |
OMIM:151050 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Large for gestational age, Limitation of joint mobility, Bell-shape... |
ORPHA:254519 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Abnormal heart valve morphology, Ataxia, Congenital diaphragmatic... |
ORPHA:280 |
Hallermann-Streiff Syndrome |
|
Small for gestational age, Pectus excavatum, Thin ribs, Choreoathetosis, Abnormal rib cage morpho... |
OMIM:234100 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplastic scapulae, Congenital diaphragmatic hernia, Thin ribs, P... |
ORPHA:958 |
Mucolipidosis Iii Alpha/Beta |
|
Broad ribs, Short ribs, Craniosynostosis |
OMIM:252600 |
Cerebrofaciothoracic Dysplasia |
|
Rib fusion, Narrow chest, Hernia, Bifid ribs, Sprengel anomaly |
ORPHA:1394 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Large for gestational age, Flexion contracture, Narrow chest, Atrial septal defect, Interphalange... |
ORPHA:96334 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Cupped ribs, Joint stiffness |
OMIM:608940 |
Vacterl/Vater Association |
|
Omphalocele, Abnormal cardiac septum morphology, Abnormal rib morphology, Congenital diaphragmati... |
ORPHA:887 |
Mucopolysaccharidosis, Type Iiid |
|
Thoracic scoliosis, Thickened ribs, Inguinal hernia, Joint stiffness, Achilles tendon contracture... |
OMIM:252940 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Missing ribs, Rib fusion, Thin ribs, Short ribs |
OMIM:271520 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Limitation of joint mobility, Abnormal rib morphology, Narrow chest, Art... |
ORPHA:96061 |
Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Inguinal hernia, Hypoplastic scapulae, Ventricular septal defect, Short thorax, Thor... |
OMIM:269860 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Mitral valve calcification, Joint stiffness, Pectus excavatum, Flexion contracture, O... |
OMIM:619127 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Long clavicles, Increased density of long bones, Hypoplasia of first ribs, Sclerosis of skull bas... |
OMIM:269150 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Abnormal pulmonary valve morphology, Craniosynostosis, Abnormal rib morpholo... |
ORPHA:667 |
Myhre Syndrome |
|
Craniofacial hyperostosis, Inguinal hernia, Femoral hernia, Joint stiffness, Abnormal rib morphol... |
ORPHA:2588 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Joint stiffness, Pulmonic stenosis, Broad ribs, Aortic valve stenosis,... |
OMIM:277600 |
Dextrocardia |
|
Situs inversus totalis, Abnormal rib morphology, Dextrocardia, Abnormal heart morphology |
ORPHA:1666 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Lateral clavicle hook, Complete atrioventricular canal defect, Decreased calvarial ossification, ... |
OMIM:617925 |
Campomelic Dysplasia |
|
11 pairs of ribs, Joint laxity, Thoracic scoliosis, Hypoplastic scapulae, Absent sternal ossifica... |
OMIM:114290 |
Myotubular Myopathy With Abnormal Genital Development |
|
Joint hypermobility, Thin ribs |
OMIM:300219 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypoplastic scapulae, Tarsal synostosis, Craniosynostosis, Flexion contracture, Abnormal rib morp... |
ORPHA:95699 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ventricular septal defect, Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Narrow ch... |
OMIM:263520 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Omphalocele, Unicoronal synostosis, Bell-shaped thorax, Short ribs, Narrow chest, Horizontal ribs |
OMIM:616300 |
Stuve-Wiedemann Syndrome 1 |
|
Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Thin ribs... |
OMIM:601559 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Aplastic clavicle, Abnormal rib morphology, Joint hype... |
ORPHA:2554 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Joint stiffness, Elbow flexion contracture, Umbilical hernia, Pulmonic... |
OMIM:608328 |
Myhre Syndrome |
|
Vertebral fusion, Ventricular septal defect, Ataxia, Small for gestational age, Joint stiffness, ... |
OMIM:139210 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Thoracic dysplasia, Short... |
OMIM:208500 |
Mucopolysaccharidosis, Type Vi |
|
Inguinal hernia, Joint stiffness, Flexion contracture, Pectus carinatum, Cardiomyopathy, Prominen... |
OMIM:253200 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
11 pairs of ribs, Myocarditis, Cupped ribs, Horizontal inferior border of scapula, Delayed epiphy... |
OMIM:250220 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Ventricular septal defect, Small for gestational age, Missing ribs, Rib... |
ORPHA:97360 |
Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Joint laxity, Ventricular septal defect, Tarsal synostosis, Congenital diaphra... |
OMIM:157800 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Hiatus hernia, Rib fusion, Multiple lipomas, Supernumerary ribs, B... |
ORPHA:50 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Recurrent fractures, Pectus excavatum, Multiple prenatal frac... |
OMIM:610682 |
Restrictive Dermopathy |
|
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... |
ORPHA:1662 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Inguinal hernia, Rib fusion, Large for gestational age |
ORPHA:544488 |
Autosomal Recessive Robinow Syndrome |
|
Inguinal hernia, Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly of... |
ORPHA:1507 |
Oculocerebrorenal Syndrome Of Lowe |
|
Inguinal hernia, Recurrent fractures, Osteomalacia, Joint stiffness, Abnormal dental enamel morph... |
ORPHA:534 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Abnormal rib morphology, Thickened cortex of long bones |
ORPHA:488434 |
Fryns Syndrome |
|
Omphalocele, Ventricular septal defect, Large for gestational age, Thin ribs, Aplasia of the left... |
OMIM:229850 |
Acrocapitofemoral Dysplasia |
|
Pectus excavatum, Cupped ribs, Pectus carinatum, Delayed ossification of carpal bones, Short ribs... |
OMIM:607778 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Limitation of joint mobility, Undulate ribs, Thoraci... |
OMIM:211350 |
Cog1-Cdg |
|
Osteopenia, Rib fusion, Posterior rib gap, Atrial septal dilatation, Failure to thrive |
ORPHA:263508 |
Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Vertebral fusion, Inguinal hernia, Ventricular septal defect, Camptodactyly of finge... |
ORPHA:373 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Thin ribs |
ORPHA:163966 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Hiatus hernia, Rib fusion, Supernumerary ribs, Bifid ribs, Lipoma |
OMIM:304050 |
Pagod Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Congenital diaphragmatic hernia, Situs inversus totali... |
ORPHA:991 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Abnormal rib morphology, Narrow chest, Abnormal scapula morphology |
ORPHA:93317 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Multiple rib fractures, Osteopetrosis |
OMIM:612301 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Inguinal hernia, Craniosynostosis, Pectus excavatum, Narrow chest, Short ribs, Atri... |
OMIM:613610 |
Zttk Syndrome |
|
Ventricular septal defect, Craniosynostosis, Flexion contracture, Rib fusion, Cervical ribs, Atri... |
OMIM:617140 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Inguinal hernia, Failure to thrive in infancy, Abnormal thorax morp... |
ORPHA:798 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Inguinal hernia, Osteoporosis, Thin ribs |
OMIM:225400 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Abnormal rib morphology, Joint stiffness |
ORPHA:1300 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Failure to thrive, Abnormal heart valve morphology, Camptodactyly of finger, Jo... |
ORPHA:1606 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Small for gestational age, Elbow contracture, Camptodactyly of finger, Thin ribs... |
OMIM:208150 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Inguinal hernia, Thickened ribs, Abnormal heart valve morphology, Abnormal pulmonary valve morpho... |
ORPHA:217085 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Inguinal hernia, Long clavicles, Contracture of the distal interphalangeal joint of the fingers, ... |
ORPHA:83617 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Ventricular septal defect, Missing ribs, Rib fusion, Supernumerary ribs |
OMIM:206900 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Inguinal hernia, Thickened ribs, Abnormal heart valve morphology, Abnormal pulmonary valve morpho... |
ORPHA:217093 |
Femoral-Facial Syndrome |
|
Inguinal hernia, Ventricular septal defect, Limited elbow movement, Missing ribs, Humeroradial sy... |
OMIM:134780 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Osteolysis, Atypical scarring of skin, Arthritis, Panniculitis, Broa... |
ORPHA:228123 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Short ribs, Horizontal ribs, Thoracic hypoplasia |
OMIM:613091 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Horizontal ribs, Knee flexion contracture, Joint hyperflexibility, Camptodactyly, Thoracolumbar k... |
OMIM:618019 |
Acrorenal-Mandibular Syndrome |
|
Hypoplastic scapulae, Congenital diaphragmatic hernia, Missing ribs, Elbow flexion contracture, T... |
OMIM:200980 |
Osteopetrosis With Renal Tubular Acidosis |
|
Recurrent fractures, Pectus excavatum, Osteopetrosis, Failure to thrive, Prominent floating ribs |
ORPHA:2785 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Broad ribs, Umbilical hernia, Limited elbow extension, Obesity |
OMIM:301066 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Inguinal hernia, Craniosynostosis, Pectus excavatum, Undulate ribs, Knee flexion contracture, Tot... |
OMIM:609945 |
Hereditary Acrokeratotic Poikiloderma |
|
Joint hyperflexibility, Abnormal rib morphology, Camptodactyly of finger |
ORPHA:2907 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Joint laxity, Vertebral fusion, Inguinal hernia, Missing ribs, Pectus excavatum, Rib fusion, Prox... |
OMIM:268310 |
Craniotubular Dysplasia, Ikegawa Type |
|
Broad ribs, Sclerosis of skull base, Ventricular septal defect, Thin bony cortex |
OMIM:619727 |
Vater/Vacterl Association |
|
Failure to thrive, Ventricular septal defect, Abnormal rib morphology, Abnormal sternum morpholog... |
OMIM:192350 |
Monosomy 9P |
|
Hernia, Limitation of joint mobility, Abnormal rib morphology, Congenital diaphragmatic hernia |
ORPHA:261112 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Ab... |
ORPHA:818 |
Alagille Syndrome 1 |
|
Ventricular septal defect, Abnormal rib morphology, Tetralogy of Fallot, Atrial septal defect, Fa... |
OMIM:118450 |
Kbg Syndrome |
|
Cervical ribs, Vertebral fusion, Rib fusion, Thoracic kyphosis |
OMIM:148050 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Small for gestational age, Secundum atrial sept... |
OMIM:264090 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Vertebral fusion, Ventricular septal defect, Small for gestationa... |
OMIM:194190 |
Charge Syndrome |
|
Abnormal rib morphology, Abnormal cardiac septum morphology, Abnormal aortic valve morphology, Ab... |
ORPHA:138 |
Kindler Epidermolysis Bullosa |
|
Abnormal dental enamel morphology, Camptodactyly of finger, Flexion contracture, Abnormal rib mor... |
ORPHA:2908 |
Radio-Renal Syndrome |
|
Abnormal rib morphology |
ORPHA:3015 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect,... |
OMIM:607872 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Barrel-shaped chest, Broad clavicles, Congenital pseudoarthrosis of the clavicle, Humeroradial sy... |
OMIM:276820 |
Pallister-Hall Syndrome |
|
Rib fusion, Ventricular septal defect |
OMIM:146510 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hyperextensibility at elbow, Failure to thrive in infancy, Sagittal craniosynostosis, Rib fusion,... |
ORPHA:500150 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Short ribs, Narrow chest, Short clavicles, Atrioventricular canal defect, Horizontal ribs |
OMIM:617088 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Sagittal craniosynostosis, Craniosynostosis, Rib fusion, Limited shoulder... |
OMIM:218600 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cupped ribs |
ORPHA:85167 |
Charge Syndrome |
|
Omphalocele, Overriding aorta, Ventricular septal defect, Down-sloping shoulders, Secundum atrial... |
OMIM:214800 |
Ulbright-Hodes Syndrome |
|
Humeroradial synostosis, Abnormal rib morphology, Thin ribs, Short sternum, Short ribs |
ORPHA:3404 |
Townes-Brocks Syndrome |
|
Failure to thrive, Abnormal pulmonary valve morphology, Abnormal rib morphology, Abnormal cardiac... |
ORPHA:857 |
Pallister-Hall Syndrome |
|
Inguinal hernia, Ventricular septal defect, Large for gestational age, Rib fusion, Distal arthrog... |
ORPHA:672 |