| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Scapular winging, Lumbar hyperlordosis, Paraspinal muscle hypertrophy, Congenita... |
OMIM:602484 |
| Poland Syndrome |
|
Unilateral absence of pectoralis major muscle, Syndactyly, Unilateral oligodactyly, Unilateral hy... |
OMIM:173800 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Back pain, Skeletal muscle atrophy, Scapular winging, Short neck, Spinal rigidity, Achilles tendo... |
OMIM:300696 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Low-set, posteriorly rotated ears, Finger syndactyly, Abnormal in... |
ORPHA:2311 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Restrictive ventilatory defect, Verteb... |
OMIM:608681 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, S... |
OMIM:619566 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Death in infancy, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphol... |
OMIM:277300 |
| Becker Nevus Syndrome |
|
Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerar... |
ORPHA:64755 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Syndactyly, Brachydactyly, Lumbar hyperlordosis, Inguinal hernia, Ovoid vertebral b... |
OMIM:619451 |
| Femoral-Facial Syndrome |
|
Inguinal hernia, Short femur, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Co... |
ORPHA:1988 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... |
ORPHA:3268 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Facial palsy, Camptodactyly of finger, Pectus excavatum, Increased variabil... |
OMIM:614399 |
| Richieri Costa-Da Silva Syndrome |
|
Joint dislocation, Decreased muscle mass, Diastasis recti, Kyphoscoliosis, Short neck, Metatarsus... |
ORPHA:3101 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... |
OMIM:613686 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Neuropathic spinal arthropathy, Hypoglycosylation of alpha-dystroglycan, Multiple joint contractu... |
ORPHA:370968 |
| Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation ... |
ORPHA:1394 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Bowing of the long bones, Dysphagia, Death in adolescence, Short long bone,... |
OMIM:619751 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Short neck, Bowing of the... |
OMIM:255800 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... |
OMIM:265000 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, Bell-shaped tho... |
OMIM:255710 |
| Anauxetic Dysplasia 3 |
|
Short metacarpal, Thoracolumbar kyphoscoliosis, Joint hypermobility, Pectus excavatum, Wide anter... |
OMIM:618853 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Short neck, Hemivertebrae, Narrow chest, Self-mutilation... |
OMIM:213980 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Wide cranial sutures, Congenital hip dislocation, Inguinal hernia, Pectus excavatum, Hip dislocat... |
OMIM:219150 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Spina bifida, Kyphos... |
OMIM:109400 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Se... |
ORPHA:2790 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Multiple pterygia, Symphalangism affecting the phalanges of the hand, Ab... |
ORPHA:2990 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture... |
ORPHA:1145 |
| Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Abnormal form of th... |
ORPHA:628 |
| Pontine Tegmental Cap Dysplasia |
|
Facial palsy, Head titubation, Sensorineural hearing impairment, Rib fusion, Hemivertebrae, Ankle... |
OMIM:614688 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Short neck, Vertebral segmentation defect, Conductive hearing imp... |
OMIM:611209 |
| Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Spinal rigidity, Achilles tendon contracture, Generalized muscle hypertrophy, Pecto... |
OMIM:604801 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Hyperextensible skin, Joint contracture, Joint laxity, Respiratory insufficiency, Inc... |
OMIM:615349 |
| Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Camptodactyly of fing... |
ORPHA:2635 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Congenital diaphragmatic hernia, Short neck, Multiple joint dislocation, Pectus carin... |
OMIM:245600 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Short neck, Missing ribs, Myelomeningocele, Short thorax, Enlarged thorax, ... |
ORPHA:66637 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Hyperlordosis, Pectus excavatu... |
OMIM:611588 |
| Scarf Syndrome |
|
Low-set, posteriorly rotated ears, Inguinal hernia, Diastasis recti, Craniosynostosis, Short neck... |
ORPHA:3134 |
| Perching Syndrome |
|
Respiratory distress, Scoliosis, Dysphagia, Joint contracture, Camptodactyly |
OMIM:617055 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... |
OMIM:268310 |
| Thanatophoric Dysplasia |
|
Brachydactyly, Redundant skin, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, S... |
ORPHA:2655 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Lumbar hyperlordosis, Centrally nucleated skeletal muscle fibers, Spinal ri... |
ORPHA:86812 |
| Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
| Weaver Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Inguinal hernia, Sandal gap, Camptodactyly ... |
ORPHA:3447 |
| Scarf Syndrome |
|
Barrel-shaped chest, Inguinal hernia, Posteriorly rotated ears, Diastasis recti, Short neck, Abno... |
OMIM:312830 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Skeletal muscle atrophy, Posteriorly rotated ears, Rocker bottom foot, Short ne... |
OMIM:618393 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Craniosynostosis, Abnormal repetitive mannerisms, Sensorineural ... |
ORPHA:261197 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Posteriorly rotated ears, Arachnodactyly, Missing ribs, Dyspnea, Abnormal r... |
ORPHA:2759 |
| Thanatophoric Dysplasia Type 1 |
|
Brachydactyly, Short femur, Bowing of the long bones, Redundant skin, Joint stiffness, Hypoplasti... |
ORPHA:1860 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Brachydactyly, Redundant skin, Kyphosis, Short thorax, Limitation of joint mobilit... |
ORPHA:93274 |
| Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal r... |
ORPHA:2345 |
| Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... |
ORPHA:536516 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Multiple joint contractures, Generalized joint laxity, Flexion con... |
ORPHA:536471 |
| Weaver Syndrome |
|
Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing, Prominent fingertip pa... |
OMIM:277590 |
| Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Hiatus hernia, Rib fusion, Small hand, Protruding ear, Hip dysplas... |
ORPHA:50 |
| Aicardi Syndrome |
|
Block vertebrae, Spina bifida, Missing ribs, Proximal placement of thumb, Hiatus hernia, Recurren... |
OMIM:304050 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Hallux valgus, Thoracic scoliosis, Inguinal hernia, Redundant skin, Short neck, Facet... |
OMIM:618000 |
| Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Narro... |
ORPHA:1354 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Hyperlordosis, Flexion contracture, Hip dislocation, Respiratory insufficiency, Ske... |
OMIM:613156 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Redundant neck skin, Short neck, Flexion contracture, Hemivertebrae, Tibial bowing, Narrow chest,... |
ORPHA:96334 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle... |
ORPHA:1143 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Congenital diaphragmatic hernia, Miss... |
ORPHA:1488 |
| Rafiq Syndrome |
|
Joint laxity, Short neck, Aggressive behavior, Flexion contracture, Cutis laxa, Low-set ears, Cli... |
OMIM:614202 |
| Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Apnea, Fatty replacement of skeletal muscle, Flexion contracture, Congen... |
OMIM:256030 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Short neck, Narrow chest, Radial bowing, Dumbbell-shaped long bone, Flat ac... |
OMIM:151210 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Decreased muscle mass, Congenital hip dislocation, Bowing of the long bones, Redundan... |
OMIM:612940 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Genu recurvatum, Metaphyseal widening, Pectus carinatum, Narrow chest, Shor... |
OMIM:184260 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... |
ORPHA:254875 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Reduced vital capacity, Internally nucleated skeletal muscle fibers, Ort... |
ORPHA:178464 |
| Geroderma Osteodysplastica |
|
Beaking of vertebral bodies, Redundant skin, Recurrent fractures, Osteoporosis, Hip dislocation, ... |
ORPHA:2078 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Lumbar hyperlordosis, Redundant skin, Wide anterior fontanel... |
OMIM:616482 |
| Kniest Dysplasia |
|
Respiratory distress, Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Ti... |
OMIM:156550 |
| Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... |
OMIM:184400 |
| Man1B1-Cdg |
|
Short neck, 2-3 toe syndactyly, Pectus carinatum, Cutis laxa, Low-set ears, Clinodactyly of the 5... |
ORPHA:397941 |
| Cranioectodermal Dysplasia 4 |
|
Sagittal craniosynostosis, Pectus excavatum, Recurrent pneumonia, Decreased nasal nitric oxide, P... |
OMIM:614378 |
| Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Apnea, Short neck, Coxa vara, Pectus carinatum, Wrist flexion contractur... |
ORPHA:800 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Hyperextensible skin, Distal lower li... |
OMIM:619764 |
| 1P36 Deletion Syndrome |
|
Conductive hearing impairment, Clinodactyly of the 5th finger, Abnormal repetitive mannerisms, Lo... |
ORPHA:1606 |
| Arterial Tortuosity Syndrome |
|
Joint laxity, Soft, doughy skin, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia... |
OMIM:208050 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Long toe, Arachnodactyly, Kyphoscoliosis, Flexion contractur... |
ORPHA:75496 |
| Hemihyperplasia, Isolated |
|
Skeletal muscle hypertrophy, Myelomeningocele, Scoliosis |
OMIM:235000 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Redundant skin, Cervical kyphosis, Generalized joint laxity, Protruding ea... |
ORPHA:2953 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Thickened helices, Clinodactyly of the 5th finger, Conductive hearing impairment, Self-mutilation... |
OMIM:607872 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Congenital hip dislocation, Posteriorly rotated ears, Left ventricular hypertrophy... |
OMIM:300280 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... |
ORPHA:267 |
| Myotonia Permanens |
|
Hyperlordosis, Dyspnea, Asthma, Generalized muscle hypertrophy, Limitation of joint mobility, Ske... |
ORPHA:99735 |
| Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... |
OMIM:228520 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Low-set, posteriorly rotated ears, Skeletal muscle atrophy, Recurrent fractures, Short neck, Limi... |
ORPHA:1486 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Arachnodactyly, Congenital diaphragmatic hernia, Hip dislocation, Cutis laxa, Emphysema |
OMIM:614100 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Distal amyotrophy, Kyphoscoliosis |
OMIM:619099 |
| Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... |
OMIM:608099 |
| De Barsy Syndrome |
|
Osteopenia, Decreased muscle mass, Congenital hip dislocation, Inguinal hernia, Kyphoscoliosis, D... |
ORPHA:2962 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb,... |
ORPHA:93267 |
| Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Redundant skin, Abnormal form of the vertebral bodies, Protruding ear, P... |
ORPHA:192 |
| Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Respiratory distress, Sensorineural hearing impairment, Achilles te... |
ORPHA:2596 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Hyperactivity, Ili... |
ORPHA:239 |
| Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffn... |
ORPHA:1801 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed ca... |
OMIM:183900 |
| Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Short neck, Wide anterior fontanel, A... |
ORPHA:2021 |
| Geroderma Osteodysplasticum |
|
Beaking of vertebral bodies, Osteopenia, Hyperextensibility of the finger joints, Recurrent fract... |
OMIM:231070 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Inguinal hernia, Congenital hip dislocation, Redundant skin, Wide anterior fontanel, Cutis laxa, ... |
OMIM:219200 |
| Kbg Syndrome |
|
Vertebral fusion, Syndactyly, Posteriorly rotated ears, Short neck, Rib fusion, Vertebral arch an... |
OMIM:148050 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Scoliosis, Hearing impairment |
ORPHA:101082 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy... |
OMIM:608840 |
| Shox-Related Short Stature |
|
Short neck, Madelung deformity, Genu valgum, Skeletal muscle hypertrophy, Short foot, Tibial bowi... |
ORPHA:314795 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Inguinal hernia, Tapered toe, Tapered finger, Aggressive behavior, Sensorineural h... |
ORPHA:544488 |
| Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Respiratory distress, Dyspnea, Osteoporosis, Pectus carinatum, Cutis la... |
ORPHA:363705 |
| Autosomal Recessive Robinow Syndrome |
|
Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Syno... |
ORPHA:1507 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... |
OMIM:605809 |
| Progeroid Syndrome, Petty Type |
|
Low-set, posteriorly rotated ears, Redundant skin, Wide anterior fontanel, Cutis laxa, Umbilical ... |
ORPHA:2963 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Generalized osteosclerosis, Macroglossia, Short long bone, Narrow chest, Fl... |
ORPHA:1423 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
| Cutis Laxa-Marfanoid Syndrome |
|
Arachnodactyly, Redundant skin, Congenital diaphragmatic hernia, Limitation of joint mobility, Fl... |
ORPHA:171719 |
| Odontochondrodysplasia |
|
Respiratory distress, Death in infancy, Bowing of the long bones, Coxa valga, Cone-shaped epiphys... |
ORPHA:166272 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Congenital diaphragmatic hernia, Spina bifida, Proximal placement of thumb, Sho... |
ORPHA:1120 |
| Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... |
OMIM:253000 |
| Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Abnormal tibia morphology, Flexion contracture, Osteoarthritis, Ab... |
ORPHA:666 |
| Macs Syndrome |
|
Joint laxity, Redundant skin, Pectus excavatum, Osteoporosis, Bronchiectasis, Cutis laxa, Hyperex... |
OMIM:613075 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Re... |
ORPHA:238329 |
| Spondylometaphyseal Dysplasia, Axial |
|
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Recurrent pneumonia, Coxa vara, ... |
OMIM:602271 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Vertebral fusion, Facial palsy, Elbow contracture, Hyperlordosis, Kyphos... |
OMIM:606612 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Posteriorly rotated ears, Short neck, Dyspnea, Respiratory failure, Low-set... |
ORPHA:1832 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Skeletal muscle hypertrophy, Kyphosis, Scoliosis, Hearing impairment |
ORPHA:99014 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increase... |
OMIM:613157 |
| Phaver Syndrome |
|
Broad hallux phalanx, Posteriorly rotated ears, Camptodactyly of finger, Pterygium, Joint stiffne... |
ORPHA:2876 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Osteoarthritis, Limitation of joint mobility, Abnormal rib morphology, Abnormal... |
ORPHA:93351 |
| Rin2 Syndrome |
|
Redundant skin, Increased susceptibility to fractures, Abnormal sternum morphology, Hyperextensib... |
ORPHA:217335 |
| C Syndrome |
|
Omphalocele, Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Posteriorly ro... |
OMIM:211750 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Hemivertebrae, Knee flexion contracture, Cutaneous finge... |
OMIM:151050 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Respiratory distress, Thoracic scoliosis, Generalized joint laxity, Tibial bowing, Na... |
OMIM:613848 |
| Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Short neck, Abnormal rib morphology, ... |
ORPHA:1703 |
| Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Recurrent joint dislocation, Congenital hip dislocation, Joint hypermobility, Generalized joint l... |
OMIM:130010 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Skeletal muscle atrophy, Thoracic scoliosis, Death in infancy, Abnormality ... |
OMIM:620278 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Sensorineural hearin... |
OMIM:609616 |
| Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Joint laxity, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Pectus exc... |
ORPHA:486815 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
| Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... |
OMIM:608022 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Joint dislocation, Respiratory distress, Scoliosis, Clinodactyly, Macrotia |
OMIM:300934 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph... |
OMIM:122860 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemiver... |
OMIM:271520 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aplasia/Hypoplasia of fingers, Aspiratio... |
ORPHA:141152 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Respiratory distress, Multiple joint contractures, Metaphyseal widening, Multiple joi... |
ORPHA:536467 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Craniofacial hyperostosis, Abnormal pinna morphology, Facial palsy, Abno... |
ORPHA:3068 |
| Aarskog-Scott Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Inguinal hernia, Genu recurvatum, Camptodac... |
ORPHA:915 |
| Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Low-set, posteriorly rotated ears, Sacral dimple, Hypoplastic pub... |
ORPHA:280 |
| Craniodiaphyseal Dysplasia |
|
Conductive hearing impairment, Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thi... |
ORPHA:1513 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Joint laxity, Inguinal hernia, Arachnodactyly, Redundant skin, Congenital diaphragmatic hernia, P... |
OMIM:219100 |
| 6P22 Microdeletion Syndrome |
|
Finger syndactyly, Redundant skin, Short neck, Clinodactyly, Low-set ears, Overfolded helix, Hear... |
ORPHA:251046 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Syndactyly, Respiratory distress, Thoracic hypoplasia, Postaxial polydactyly, Latera... |
OMIM:617895 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Joint contracture, Kyphoscoliosis |
OMIM:617977 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Short neck, Short metatarsal, Narrow chest, Clinodactyly of the 5th finger, Short pha... |
OMIM:266920 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Thoracic scoliosis, Redundant skin, Equinus calcaneus, Knee disloc... |
ORPHA:536532 |
| Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... |
ORPHA:474 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Osteopenia, Skeletal muscle atrophy, Kyphoscoliosis, Sensorineural hearing impairment, Myopathy, ... |
ORPHA:300179 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Inguinal hernia, Redundant skin, Delayed closure of the anterior fontan... |
OMIM:225410 |
| Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Increased number of skin folds, Redundant skin, Cutis laxa |
ORPHA:436274 |
| Achondroplasia |
|
Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora... |
OMIM:100800 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
| Septopreoptic Holoprosencephaly |
|
Impulsivity, Abnormal rib morphology, Dysphagia, Abnormal vertebral morphology, Ethmoidal encepha... |
ORPHA:280195 |
| Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Joint dislocation, Inguinal hernia, Hyperextensible skin, Scoliosis, Umbilical hernia, Joint hype... |
OMIM:617174 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Joint laxity, Skeletal muscle atrophy, Reduced vital capacity, Ankle flexion contracture, Central... |
OMIM:617760 |
| Melnick-Needles Syndrome |
|
Narrow chest, Anisospondyly, Short thorax, Abnormal rib morphology, Cone-shaped epiphyses of the ... |
ORPHA:2484 |
| Congenital Myasthenic Syndrome |
|
Congenital hip dislocation, Limb-girdle muscle weakness, Pectus carinatum, Muscle fiber atrophy, ... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Congenital hip dislocation, Limb-girdle muscle weakness, Pectus carinatum, Muscle fiber atrophy, ... |
ORPHA:98914 |
| Ogden Syndrome |
|
Torticollis, Inguinal hernia, Broad hallux, Cutis laxa, Scoliosis, Low-set ears, Macrotia, Delaye... |
ORPHA:276432 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Redundant skin, Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow gr... |
OMIM:250220 |
| Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Posteriorly rotated ears, Toe syndactyly, Mesoaxial hand ... |
OMIM:146510 |
| Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Joint laxity, Posteriorly rotated ears, Tarsal synostosis, Congenital diaphrag... |
OMIM:157800 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Redundant skin |
OMIM:301021 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaph... |
OMIM:300232 |
| Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Thoracic scoliosis, Short neck, Flexion contracture, Generalized amyotrophy... |
OMIM:620369 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... |
OMIM:617405 |
| Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol... |
ORPHA:3082 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Pectus... |
OMIM:259440 |
| Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Scoliosis, Cutis laxa |
OMIM:614434 |
| Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Skeletal muscle hypertrophy, Umbilical hernia, Macroglossia, Myopathy |
ORPHA:2349 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Hyper... |
OMIM:182212 |
| Muscle Hypertrophy |
|
Skeletal muscle hypertrophy |
OMIM:614160 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Skeletal muscle atrophy, Scapular winging, Abnormality of the knee, Hypoven... |
ORPHA:98915 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Plantar flexion contractu... |
OMIM:620011 |
| Campomelic Dysplasia |
|
Respiratory distress, Thoracic scoliosis, Apnea, Cervical kyphosis, Anterior tibial bowing, Delay... |
OMIM:114290 |
| Tetrasomy 5P |
|
Respiratory distress, Redundant neck skin, Posteriorly rotated ears, Overlapping toe, Short hallu... |
ORPHA:3309 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Flexion contrac... |
OMIM:224690 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Respiratory distress, Respiratory failure requiring... |
OMIM:211530 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Hemivertebrae, Dysplastic sacrum, Absent vertebr... |
OMIM:134780 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Os odontoideum, Osteopenia, Joint laxity, Adducted thumb, Hip dislocation, Protruding ear, Cutis ... |
OMIM:616603 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers,... |
OMIM:613561 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Conductive hearing impairment, Spina bifida occulta,... |
OMIM:218600 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Centrally nucleated skeletal muscle fibers, Thin ribs, My... |
OMIM:300219 |
| Occipital Horn Syndrome |
|
Persistent open anterior fontanelle, Redundant skin, Pectus carinatum, Hyperextensible skin, Narr... |
OMIM:304150 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Myopathy, T... |
OMIM:300580 |
| Rippling Muscle Disease 2 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy |
OMIM:606072 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Genu recurvatum, Fatty replacement of skeletal muscl... |
ORPHA:206549 |
| White Forelock With Malformations |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Abnormal rib morphology, Joint hyperflexibi... |
ORPHA:2475 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... |
OMIM:271650 |
| Cog1-Cdg |
|
Low-set, posteriorly rotated ears, Irregularity of vertebral bodies, Osteopenia, Kyphoscoliosis, ... |
ORPHA:263508 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Congenital muscular torticollis, Mixed hearing impairment, Short neck, Sensorineural hearing impa... |
OMIM:118100 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Death in early adulthood, Thoracic scoliosis, Muscle fiber hyaline bodies, Centrally nucleated sk... |
OMIM:255160 |
| Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Multiple prenatal fractures, Abnormal thorax morphology, F... |
ORPHA:171430 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber... |
ORPHA:254864 |
| Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal thorax morphology, Abnormal respiratory system physiology... |
ORPHA:50251 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Head titubation, Ankle clonus, Protruding ear, Cutis laxa |
OMIM:619691 |
| Gapo Syndrome |
|
Facial palsy, Redundant skin, Delayed closure of the anterior fontanelle, Delayed cranial suture ... |
OMIM:230740 |
| Pseudoachondroplasia |
|
Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Osteoart... |
OMIM:177170 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress, Limitation of joint mobility |
ORPHA:2680 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Anterior rib cupping, Hyperlordosis, ... |
OMIM:184250 |
| Shprintzen-Goldberg Syndrome |
|
Osteopenia, Apnea, Abnormal form of the vertebral bodies, Pectus carinatum, Protruding ear, Hyper... |
ORPHA:2462 |
| 3M Syndrome |
|
Congenital hip dislocation, Short neck, Increased vertebral height, Protruding ear, Enlarged thor... |
ORPHA:2616 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis, Abnormal rib... |
ORPHA:2522 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy |
OMIM:254120 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Thenar muscle atrophy, Tapered finger, Flat capital femoral epiphysis, Flexion contra... |
ORPHA:157965 |
| Congenital Myopathy 3 With Rigid Spine |
|
Reduced vital capacity, Facial palsy, Centrally nucleated skeletal muscle fibers, Spinal rigidity... |
OMIM:602771 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Respiratory distress, Decreased muscle mass, Congenital hip dislocation, Arachnodacty... |
OMIM:271225 |
| Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... |
OMIM:184252 |
| Rahman Syndrome |
|
Redundant skin, Kyphoscoliosis, Camptodactyly |
OMIM:617537 |
| Aldh18A1-Related De Barsy Syndrome |
|
Joint hyperflexibility, Hyperextensible skin |
ORPHA:35664 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Inguinal hernia, Posteriorly rotated ears, Prominent ear helix, Flexion contracture, ... |
OMIM:614438 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Congenital contracture, Sc... |
OMIM:615042 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... |
OMIM:187601 |
| Bohring-Opitz Syndrome |
|
Joint dislocation, Syndactyly, Sacral dimple, Prominent metopic ridge, Posteriorly rotated ears, ... |
OMIM:605039 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Tachypnea, Bell-shaped thorax, Pulmonary arterial hypertension, Abnormal posturi... |
OMIM:614857 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Joint dislocation, Metaphyseal dysplasia, Redundant neck skin, Short neck, Abnormal thumb morphol... |
ORPHA:1842 |
| Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Abnormal cortical bone morphology, Abnormal rib morp... |
ORPHA:2097 |
| Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... |
OMIM:253010 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Restlessness, Inguinal hernia, Tapered finger, Sensorineural hearing impair... |
ORPHA:544503 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
High-frequency sensorineural hearing impairment, Skeletal muscle atrophy, Mixed hearing impairmen... |
OMIM:614557 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Short neck, Tapered finger, Multiple joint dislocation, Hip... |
OMIM:618395 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... |
OMIM:269250 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Decreased muscle mass, Redundant neck skin, Congenital hip dislocation, Redundant skin, Delayed c... |
ORPHA:357074 |
| Renpenning Syndrome |
|
Skeletal muscle atrophy, Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Sensorineu... |
ORPHA:3242 |
| Spondylo-Ocular Syndrome |
|
Abnormal intervertebral disk morphology, Facial hypotonia, Short neck, Osteoporosis, Abnormal ant... |
ORPHA:85194 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal widening, Cox... |
OMIM:608940 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms |
OMIM:616341 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of... |
OMIM:608728 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Multiple rib fractures, Short femur, Posteriorly rotated ears, Fractured radius, Bead... |
OMIM:616897 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Calf muscle pseudohypertrophy, Hypoglycosylation of alpha-dystroglycan, ... |
ORPHA:370959 |
| Rippling Muscle Disease 1 |
|
Skeletal muscle hypertrophy |
OMIM:600332 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Cough, Flexion contracture, Dysphagia, Abnormal pattern of respiration |
ORPHA:77260 |
| Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Abnormality of the knee, Congenital diaphragmatic hernia, Short neck, Missing ribs, ... |
ORPHA:1834 |
| Periodontal Ehlers-Danlos Syndrome |
|
Joint hyperflexibility, Hyperextensible skin |
ORPHA:75392 |
| Zttk Syndrome |
|
Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Hemivertebrae, Small hand, Protrudin... |
OMIM:617140 |
| Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... |
OMIM:223800 |
| Ogden Syndrome |
|
Redundant neck skin, Congenital hip dislocation, Redundant skin, Apnea, Short neck, Protruding ea... |
OMIM:300855 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Scapular winging, Congenital hip dislocation, Wormian bones, Redundant skin, Hypoplas... |
OMIM:278250 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Low-set ears, Cutis laxa |
OMIM:301045 |
| Mohr-Tranebjaerg Syndrome |
|
Intrinsic hand muscle atrophy, Postlingual sensorineural hearing impairment, Increased susceptibi... |
OMIM:304700 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Joint dislocation, Thoracic scoliosis, Decreased muscle mass, Distal joint laxity, Ge... |
ORPHA:1900 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short t... |
OMIM:617102 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, O... |
OMIM:260400 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Low-se... |
ORPHA:2180 |
| Achondrogenesis Type 1B |
|
Short neck, Abnormal enchondral ossification, Short thorax, Abnormal rib morphology, Short foot, ... |
ORPHA:93298 |
| Alg8-Cdg |
|
Cutis laxa, Macroglossia, Low-set ears, Camptodactyly, Premature skin wrinkling, Brachydactyly |
ORPHA:79325 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... |
OMIM:102510 |
| Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... |
ORPHA:2319 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Miscarriage, Centrally nucleated skeletal muscle fibers,... |
ORPHA:169189 |
| Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... |
ORPHA:392 |
| Cartilage-Hair Hypoplasia |
|
Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pectus carinatum... |
ORPHA:175 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck, Hearing impairment |
ORPHA:2578 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Joint laxity, Long toe, Inguinal hernia, Redundant neck skin, Overlapping toe, Diastasis recti, O... |
ORPHA:254528 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Overlapping toe, Flexion contracture, Pectus carinatum, Scoliosis, Low-set ... |
OMIM:619383 |
| Moebius Syndrome |
|
Respiratory distress, Syndactyly, Brachydactyly, Abnormal pinna morphology, Short neck, Split han... |
OMIM:157900 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Missing ribs, Sensorineural hearing impairment, Rib fusion, Hemivertebrae, Bila... |
OMIM:206900 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Decreased muscle mass, Abnormal thorax morphology, Metaphyseal widening, Dysphagia, Abnormal form... |
ORPHA:73230 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Respiratory insufficiency, Bell-shaped thorax, Shor... |
OMIM:615633 |
| Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Abnormal form of the vertebral bodies, Conductive hearing impairment, Abno... |
OMIM:194190 |
| Pelviscapular Dysplasia |
|
Brachydactyly, Redundant neck skin, Abnormal pinna morphology, Hypoplastic scapulae, Congenital h... |
ORPHA:93333 |
| Myhre Syndrome |
|
Short neck, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Short toe, Generalized muscle h... |
OMIM:139210 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Joint laxity, Short metacarpal, Camptodactyly of finger, Kyphoscoliosis, Thenar muscl... |
OMIM:612350 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Achilles tendon contractur... |
ORPHA:353 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm |
ORPHA:168555 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Tachypnea, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Neonatal resp... |
ORPHA:79345 |
| Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Short neck, Hyperlordosis, Kyphosis, Coxa valga, Sho... |
ORPHA:582 |
| Fibrochondrogenesis 2 |
|
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... |
OMIM:614524 |
| Mucopolysaccharidosis, Type Iiia |
|
Inguinal hernia, Thickened ribs, Hyperactivity, Joint stiffness, Ovoid thoracolumbar vertebrae, S... |
OMIM:252900 |
| Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... |
OMIM:187760 |
| Greenberg Dysplasia |
|
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomel... |
OMIM:215140 |
| Menkes Disease |
|
Joint laxity, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Cutis laxa, Death in childho... |
OMIM:309400 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Skeletal muscle hypertrophy, Muscular dystrophy |
OMIM:613158 |
| Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplas... |
ORPHA:958 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Elastosis Perforans Serpiginosa |
|
Cutis laxa |
ORPHA:79148 |
| Myhre Syndrome |
|
Craniofacial hyperostosis, Brachydactyly, Inguinal hernia, Joint stiffness, Abnormal rib morpholo... |
ORPHA:2588 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Syndactyly, Neonatal respiratory distress, Redundant neck skin, Abnormal pi... |
OMIM:217980 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Mixed hearing impairment, Brachydactyly, Posteriorly rotate... |
ORPHA:97360 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Redundant skin, Abnormal finger morphology, Symphalangism affecting the phalanges of the hand, Sh... |
ORPHA:2658 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Postaxial hand polydactyly, Hyperextensible skin |
OMIM:615937 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat... |
OMIM:610915 |
| Fountain Syndrome |
|
Craniofacial hyperostosis, Brachydactyly, Coarse metaphyseal trabecularization, Metaphyseal dyspl... |
ORPHA:3219 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Joint dislocation, Genu recurvatum, Calcaneovalgus deformity, Absent phalangeal crease, Hypermobi... |
ORPHA:230851 |
| Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Skeletal muscle atrophy, Limited elbow movement, Knee flexion contracture, Inc... |
OMIM:305620 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Decreased muscle mass, Congenital hip dislocation, Inguinal hernia, Kyphoscoliosis, D... |
ORPHA:2834 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Congenital muscular torticollis, Finger syndactyly, Posteriorly rotated ... |
ORPHA:2215 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Polydactyly, Hearing impairment |
OMIM:615993 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... |
OMIM:166210 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,... |
OMIM:224300 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Spinal rigidity, Flexion c... |
OMIM:613327 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Short ... |
OMIM:187600 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology, Low-set ears |
ORPHA:276422 |
| Dystonia 31 |
|
Abnormal posturing, Dysphagia |
OMIM:619565 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Arthropathy, Long clavicles, Redundant skin, Pectus excavatum, Erythema, Osteoporosis... |
OMIM:259100 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Beaded ribs, Short neck, Bowing of the legs, Abnormal han... |
OMIM:200600 |
| Costello Syndrome |
|
Low-set, posteriorly rotated ears, Redundant skin, Short neck, Lack of skin elasticity, Ulnar dev... |
ORPHA:3071 |
| Renal Hypodysplasia/Aplasia 2 |
|
Redundant skin |
OMIM:615721 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Weakness of ... |
ORPHA:596 |
| Leri Pleonosteosis |
|
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Elbow dislocation, Abnormal finger mor... |
ORPHA:2900 |
| Craniometadiaphyseal Dysplasia |
|
Osteopenia, Broad long bones, Coxa valga, Cubitus valgus, Wide anterior fontanel, Flared metaphys... |
OMIM:269300 |
| Cleidocranial Dysplasia |
|
Sinusitis, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, De... |
ORPHA:1452 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
| Cranioectodermal Dysplasia 2 |
|
Joint laxity, Syndactyly, Brachydactyly, Inguinal hernia, Craniosynostosis, Short neck, Pectus ex... |
OMIM:613610 |
| Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Redundant skin, Cutis laxa |
ORPHA:91135 |
| Recombinant 8 Syndrome |
|
Redundant skin, Camptodactyly of finger, Pectus excavatum, Patellar aplasia, Abnormal sternum mor... |
ORPHA:96167 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... |
ORPHA:2911 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Respiratory distress, Wide cranial sutures, Short femur, Inguinal hernia, Recurrent f... |
OMIM:618188 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Death in infancy, Osteopenia, Joint laxity, Sandal gap, Redu... |
OMIM:613177 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress, Persistent open anterior fontanelle, Short middle phalanx of the 2nd finger... |
OMIM:119600 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Reduced vital capacity, Quadriceps muscle weakness, Achilles tendon contracture... |
OMIM:603689 |
| Achondrogenesis Type 1A |
|
Multiple rib fractures, Recurrent fractures, Short neck, Abnormal enchondral ossification, Short ... |
ORPHA:93299 |
| Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
| Auriculocondylar Syndrome 2A |
|
Overfolding of the superior helices, Respiratory distress, Posteriorly rotated ears, Apnea, Cleft... |
OMIM:614669 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Dry skin, Dysphagia, Low-set ears, Cutis laxa |
OMIM:612379 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:2234 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Inguinal hernia, Arachnodactyly, Redundant skin, Craniosynostosis, Rocker b... |
ORPHA:3342 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... |
ORPHA:2347 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Posteriorly rotated ears, Congenital diaphragmatic hernia, Morgagni diaphra... |
OMIM:613309 |
| Neonatal Marfan Syndrome |
|
Long toe, Neonatal respiratory distress, Arachnodactyly, Long fingers, Flexion contracture, Pectu... |
ORPHA:284979 |
| Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, G... |
ORPHA:583 |
| Granulomatous Slack Skin |
|
Erythema, Redundant skin, Cutis laxa |
ORPHA:33111 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Osteopenia, Protruding ear, Rib exostoses, Clinodactyly of the 5th finger, Syndactyly, Scapular w... |
OMIM:150230 |
| Autosomal Dominant Cutis Laxa |
|
Osteopenia, Redundant neck skin, Genu recurvatum, Redundant skin, Protruding ear, Abnormal curvat... |
ORPHA:90348 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal cupping of me... |
OMIM:300863 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Achilles tendon contrac... |
OMIM:607155 |
| Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Thin ribs, Protr... |
OMIM:612921 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Slender long bone, Abnormal pelvic girdle bone morphology, Abn... |
ORPHA:1506 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Metaphyseal widening, Flexion contracture, Delayed proximal femoral epiphyseal ossifi... |
OMIM:271640 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Low-set, posteriorly rotated ears, Joint dislocation, Redundant skin, Avascular necrosis of the c... |
ORPHA:502 |
| Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Inguinal hernia, Redundant skin, External ear malformation, Joint hyperflexibi... |
ORPHA:1252 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Myopathy |
ORPHA:26792 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:253290 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Arthrochalasia Ehlers-Danlos Syndrome |
|
Joint dislocation, Inguinal hernia, Joint stiffness, Coxa valga, Avascular necrosis of the capita... |
ORPHA:1899 |
| Schinzel-Giedion Syndrome |
|
Respiratory distress, Abnormal clavicle morphology, Short neck, Tibial bowing, Broad ribs, Wide a... |
ORPHA:798 |
| Dysmorphism-Cleft Palate-Loose Skin Syndrome |
|
Redundant skin |
ORPHA:1779 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Elbow dislocation, Short thumb, Hypopl... |
ORPHA:3258 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Redundant neck skin, Postaxial hand polydactyly, Abnormal rib morphology, P... |
ORPHA:2519 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Respiratory distress, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebra... |
OMIM:612852 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Redundant neck skin, Apnea, Proximal femoral metaphyseal irregularity, T... |
ORPHA:397715 |
| Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, ... |
OMIM:253220 |
| Mosaic Trisomy 8 |
|
Abnormal pinna morphology, Camptodactyly of finger, Short neck, Limitation of joint mobility, Abn... |
ORPHA:96061 |
| Radio-Renal Syndrome |
|
Respiratory distress, Short neck, Dyspnea, Hypoplasia of the radius, Abnormal rib morphology, Abn... |
ORPHA:3015 |
| Emanuel Syndrome |
|
Sacral dimple, Redundant neck skin, Multiple joint contractures, Congenital hip dislocation, Cong... |
ORPHA:96170 |
| Congenital Diaphragmatic Hernia |
|
Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Hypox... |
ORPHA:2140 |
| Hypophosphatasia |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Emphysema, Abnormal rib morpholo... |
ORPHA:436 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia, Axial muscle stiffness |
ORPHA:240085 |
| Mucopolysaccharidosis, Type Iiid |
|
Thoracic scoliosis, Thickened ribs, Short neck, Ovoid thoracolumbar vertebrae, Hypoplastic verteb... |
OMIM:252940 |
| Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Apnea, Short neck, Knee flexion contracture, Femoral bowing, Tibial bowing, Shor... |
OMIM:601559 |
| Vacterl/Vater Association |
|
Low-set, posteriorly rotated ears, Occipital encephalocele, Finger syndactyly, Abnormal intervert... |
ORPHA:887 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Left ventricular noncompaction |
OMIM:613642 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis, Dysph... |
OMIM:128100 |
| Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Inguinal hernia, Delayed closure of th... |
OMIM:303600 |
| Pallister-Hall Syndrome |
|
Hemivertebrae, Paroxysmal bursts of laughter, Low-set, posteriorly rotated ears, Mesoaxial polyda... |
ORPHA:672 |
| Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Redundant skin, Abnormal morphology of ulna, Short neck, Pectu... |
ORPHA:1340 |
| Cat-Eye Syndrome |
|
Hip dysplasia, Abnormal rib morphology, Hearing impairment |
ORPHA:195 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Recurrent fractures, Abnormal rib morphology, Joint hyperflexi... |
ORPHA:2772 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G... |
OMIM:250420 |
| Elastoderma |
|
Premature skin wrinkling, Cutis laxa |
ORPHA:228240 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy, Death in infancy, Sensorineural hearing impairment, Respiratory dis... |
OMIM:616974 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Death in infancy, Spinal rigidity, Skeletal muscle hypertrophy, Macroglossia, Cong... |
OMIM:613150 |
| Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Long clavicles, Diastasis recti, Kyphoscoliosis, Coxa valga, Long f... |
OMIM:608149 |
| Kagami-Ogata Syndrome |
|
Omphalocele, Respiratory failure requiring assisted ventilation, Inguinal hernia, Diastasis recti... |
ORPHA:254519 |
| Opsismodysplasia |
|
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... |
OMIM:258480 |
| Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and fusion, Synos... |
ORPHA:90652 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Protruding ear, Pectus carinatum, Tibial bowing, Reduced bone mineral dens... |
ORPHA:93315 |
| Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Death in infancy, Death in early adulthood, Flexion contracture, Respira... |
ORPHA:682 |
| Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Torticollis, Thoracic scoliosis, Stiff neck, Overlapping fingers, Short neck, Increa... |
OMIM:617022 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Skeletal muscle hypertrophy, Miscarriage |
OMIM:613877 |
| Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, Genu valgum, Platyspon... |
OMIM:619698 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Inguinal hernia, Redundant skin, Kyphoscoliosis, Pneumothorax, Hip dislocation, Protruding ear, C... |
OMIM:617403 |
| Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnormal rib... |
ORPHA:1163 |
| Amyloidosis, Finnish Type |
|
Cutis laxa |
OMIM:105120 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hyperextensibility at elbow, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Absent thumb, ... |
ORPHA:500150 |
| Paramyotonia Congenita |
|
Skeletal muscle hypertrophy, Inspiratory stridor |
OMIM:168300 |
| Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Aplasia of the abdominal w... |
ORPHA:2970 |
| Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
| Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... |
OMIM:615220 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Inguinal hernia, Abnormal pinna morphology, Arachnodactyly, Congenital diaphragmatic hernia, Pect... |
OMIM:614437 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Inguinal hernia, Redundant skin, Wide anterior fontanel, Pneumothorax, Hip dislocat... |
ORPHA:90349 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Craniosynostosis, Split hand, Abnormal rib morphology, Abnormal antihelix morp... |
ORPHA:2145 |
| Myotonia Congenita, Autosomal Recessive |
|
Skeletal muscle hypertrophy, Muscle hypertrophy of the lower extremities, Dysphagia |
OMIM:255700 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared metaphysis, Co... |
OMIM:602111 |
| Huntington Disease-Like 1 |
|
Abnormal shoulder morphology, Restlessness, Abnormal posturing |
ORPHA:157941 |
| Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Wormian bones, R... |
OMIM:616229 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcan... |
ORPHA:163966 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Delayed epiphyseal ossification, Macroglossia, Abnormal epiphysis morpholog... |
ORPHA:226313 |
| Episodic Ataxia Type 1 |
|
Respiratory distress, Calf muscle hypertrophy, Kyphoscoliosis, Scoliosis |
ORPHA:37612 |
| Carpenter Syndrome 2 |
|
Short neck, Preaxial polydactyly, Coxa vara, Pectus carinatum, Protruding ear, Knee flexion contr... |
OMIM:614976 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Myopathy |
ORPHA:91130 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Redundant neck skin, Short neck, 2-3 toe syndactyly, Cutaneous syndactyly, Stillbirth, Neonatal d... |
OMIM:236500 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short neck, Bowing of the legs, Pectus carinatum, Knee flexion contracture, Abnormal calcificatio... |
OMIM:271665 |
| Satoyoshi Syndrome |
|
Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, Genu valgum,... |
OMIM:600705 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Ankle flexion contracture, Small hand, Upper limb undergrowth, Knee flexion... |
OMIM:608799 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Abnormal sacroiliac joint morphology, Redundant skin |
ORPHA:1807 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Short humerus, Short femur, Abnormal pinna morphology, Sandal gap, Sensorin... |
OMIM:607143 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Redundant neck skin, Anterior concavity of thoracic vertebrae, Protruding ear, Short ... |
OMIM:249420 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Apnea, Flexion contracture... |
OMIM:619503 |
| Acrocapitofemoral Dysplasia |
|
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... |
OMIM:607778 |
| Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Dy... |
OMIM:252930 |
| Myotonia, Potassium-Aggravated |
|
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Stridor, Apneic episodes in infancy |
OMIM:608390 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
| Trisomy 13 |
|
Kyphosis, Sensorineural hearing impairment, Postaxial hand polydactyly, Abnormal rib morphology, ... |
ORPHA:3378 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility at elbow, Inguinal... |
OMIM:130000 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... |
ORPHA:254361 |
| Lethal Congenital Contracture Syndrome 1 |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal thorax morphology, Neonatal deat... |
OMIM:253310 |
| Hurler Syndrome |
|
Abnormal clavicle morphology, Death in infancy, Camptodactyly of finger, Short neck, Limitation o... |
ORPHA:93473 |
| Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Thickened ribs, Joint stiffness, Aggressive behavior, Ovoid thoracolumbar vertebra... |
OMIM:252920 |
| C Syndrome |
|
Low-set, posteriorly rotated ears, Death in infancy, Sacral dimple, Toe syndactyly, Joint disloca... |
ORPHA:1308 |
| Fibrinolytic Defect |
|
Hyperextensible skin |
OMIM:134900 |
| Osteoglophonic Dysplasia |
|
Osteopenia, Respiratory distress, Short neck, Short metatarsal, Short palm, Short phalanx of fing... |
OMIM:166250 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Short neck, Pectus excavatum, Metaphyseal widening, Flexion contracture, Cl... |
OMIM:617303 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Neonatal respiratory distress, Redundant neck skin, Posteriorly rotated ears, Rocker bottom foot,... |
OMIM:214100 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Congenital diaphragmatic hernia, Missing ribs, Ext... |
ORPHA:1647 |
| Cranioectodermal Dysplasia 3 |
|
Joint laxity, Sandal gap, Sagittal craniosynostosis, Postaxial polydactyly, 2-4 toe syndactyly, 2... |
OMIM:614099 |
| Fontaine Progeroid Syndrome |
|
Redundant skin, Hypoplasia of the abdominal wall musculature, Neonatal death, Conductive hearing ... |
OMIM:612289 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Joint laxity, Joint stiffness, Cutis laxa |
OMIM:314400 |
| Acetazolamide-Responsive Myotonia |
|
Skeletal muscle hypertrophy, Dysphagia |
ORPHA:99736 |
| Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Lumb... |
OMIM:619636 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Respiratory insufficiency, Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
| Macular Degeneration, Age-Related, 3 |
|
Distal amyotrophy, Hyperextensible skin, Joint hypermobility |
OMIM:608895 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Flexion contracture, Abnormal form of the vertebral bodies, Reduced... |
ORPHA:581 |
| Immunodeficiency 49 |
|
Wormian bones, Umbilical hernia, Posteriorly rotated ears, Cutis laxa |
OMIM:617237 |
| Viss Syndrome |
|
Generalized joint laxity, Pectus carinatum, Hyperextensible skin, Emphysema, Long toe, Joint laxi... |
OMIM:619472 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Congenital hip dislocation, Pectus carinatum, Knee dislocati... |
ORPHA:536545 |
| Brody Disease |
|
Skeletal muscle hypertrophy, Flexion contracture |
OMIM:601003 |
| Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Respiratory in... |
OMIM:615368 |
| Atelosteogenesis, Type I |
|
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonatal death, Vert... |
OMIM:108720 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Omphalocele, Neonatal respiratory distress, Diastasis recti, Posterior rib fusion, Low-set ears, ... |
OMIM:265380 |
| Specific Granule Deficiency 2 |
|
Osteopenia, Death in infancy, Brachydactyly, Posteriorly rotated ears, Abnormal pinna morphology,... |
OMIM:617475 |
| 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 |
| Alg12-Cdg |
|
Abnormal pinna morphology, Redundant skin, Sandal gap, Proximal placement of thumb, Ulnar deviati... |
ORPHA:79324 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Small hypothenar eminence, Arachnodactyly, Hypoplasia of the musculature, Thenar musc... |
ORPHA:2463 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Inguinal hernia, Pectus excavatum, Darwin tubercle of helix, Supernumerary ribs... |
OMIM:619122 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Abnormal rib... |
ORPHA:3035 |
| Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Protruding ear, Kn... |
OMIM:600920 |
| Holzgreve Syndrome |
|
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Abnormal morphology of ulna, Jo... |
ORPHA:2167 |
| Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Sacral dimple, Redundant neck skin, Posteriorly rotated ears, Broad hallux, Wide ante... |
OMIM:239710 |
| Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Kyphosis, Abnormal rib morpho... |
ORPHA:2050 |
| Acrorenal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Hemivertebrae, Narrow chest, Hypoplasia of the ulna, Split hand,... |
OMIM:200980 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Narrow chest, Conductive hearing impairment, Abnormality of ... |
ORPHA:95699 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Petechiae, Apnea, Microtia, Low-set ears, Dysphagia, Neonatal death, Arthro... |
OMIM:608013 |
| Trisomy 1Q |
|
Omphalocele, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenital diaphragmatic he... |
ORPHA:261344 |
| Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Recurrent fractures, ... |
ORPHA:83 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Joint laxity, Inguinal hernia, Genu recurvatum, Pectus excavatum, Calcaneovalgus deformity, Hyper... |
OMIM:225320 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Diastasis recti, Large placenta, Coat hanger sign of ribs, Umbilical hernia, Thoraci... |
ORPHA:254534 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Sandal gap, Short neck, Cutis laxa, Brachydactyly |
OMIM:614800 |
| Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... |
ORPHA:2769 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Bowed humerus, Short neck, Short tibia, Ulnar bowing, Thin ribs, Femoral bowing, Coro... |
OMIM:620076 |
| Mgat2-Cdg |
|
Low-set, posteriorly rotated ears, Osteopenia, Respiratory distress, Posteriorly rotated ears, Pe... |
ORPHA:79329 |
| Monosomy 9Q22.3 |
|
Hyperactivity, Rhabdomyosarcoma, Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology,... |
ORPHA:77301 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Dry skin, Scaling skin, Cutis laxa |
ORPHA:2269 |
| Loeys-Dietz Syndrome 4 |
|
Joint laxity, Torticollis, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Pneumothorax, Jo... |
OMIM:614816 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Abnormal pinna morphology, Short neck, Thickened cortex of long bones, Abnormal rib m... |
ORPHA:488434 |
| Farber Disease |
|
Respiratory distress, Skeletal muscle atrophy, Abnormality of the knee, Short toe, Flexion contra... |
ORPHA:333 |
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Joint laxity, Joint dislocation, Striae distensae, Osteoarthritis, Hyperextensible skin, Soft ski... |
OMIM:130020 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Skeletal muscle atrophy, Joint hyperflexibility, Hyperextensible skin, Spina bifida occulta, Join... |
ORPHA:230839 |
| Short Stature-Micrognathia Syndrome |
|
Joint laxity, Bowing of the legs, Coxa valga, Metaphyseal widening, 2-3 toe syndactyly, Skeletal ... |
OMIM:617164 |
| Gapo Syndrome |
|
Abnormal clavicle morphology, Abnormal thorax morphology, Abnormal form of the vertebral bodies, ... |
ORPHA:2067 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, ... |
ORPHA:2554 |
| Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... |
OMIM:200610 |
| Short-Rib Thoracic Dysplasia 12 |
|
Short neck, Bowing of the legs, Thoracic dysplasia, Narrow chest, Short palm, Neonatal death, Sho... |
OMIM:269860 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Dysphagia, Abnormal skeletal muscle morp... |
ORPHA:142 |
| Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Pectus carinatum, Humerus varus, Hyperextensible skin, Narrow chest, Short... |
ORPHA:198 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Joint dislocation, Genu recurvatum, Flexion contracture, Pectus carinatum, Hyperexten... |
OMIM:130070 |
| Alagille Syndrome |
|
Hypoplasia of the ulna, Abnormal rib morphology, Abnormal form of the vertebral bodies, Protrudin... |
ORPHA:52 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Conductive hearing impairment, Sprengel anomaly, Abnormality of the vertebral column, Abnormal ri... |
OMIM:601076 |
| Congenital Tracheomalacia |
|
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... |
ORPHA:95430 |
| Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac... |
ORPHA:3003 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Coxa v... |
ORPHA:1517 |
| Noonan Syndrome 8 |
|
Short neck, Abnormal sternum morphology, Hyperextensible skin, Low-set ears, Palmoplantar cutis l... |
OMIM:615355 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Flexion contracture, Respiratory distress, Hearing impairment |
OMIM:616733 |
| Osteopathia Striata With Cranial Sclerosis |
|
Apnea, Craniofacial osteosclerosis, Osteopathia striata, Conductive hearing impairment, Clinodact... |
OMIM:300373 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure, Progressive h... |
OMIM:620166 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Rocker bottom foot, Low-set ears, Dysphagia, Adducted thumb |
ORPHA:89844 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Inguinal hernia, Osteomalacia, Joint stiffness, Coxa valga, Avascu... |
ORPHA:1901 |
| Cole-Carpenter Syndrome 2 |
|
Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Pla... |
OMIM:616294 |
| Chromosome 18P Deletion Syndrome |
|
Barrel-shaped chest, Redundant neck skin, Posteriorly rotated ears, Toe syndactyly, Short neck, C... |
OMIM:146390 |
| Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... |
OMIM:186500 |
| Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Adducted thumb, Respiratory distress, Short neck |
ORPHA:50810 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Joint dislocation, Congenital hip dislocation, Arachnodactyly, Protrusi... |
OMIM:225400 |
| Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa... |
ORPHA:249 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Anorexia, Nonproductive cough, Dyspnea, W... |
ORPHA:1302 |
| Zaki Syndrome |
|
Sacral dimple, Toe syndactyly, Congenital diaphragmatic hernia, Long fingers, Cupped ear, Hyperex... |
OMIM:619648 |
| Gm1-Gangliosidosis, Type I |
|
Death in infancy, Inguinal hernia, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Hypopla... |
OMIM:230500 |
| Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Rha... |
ORPHA:454836 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Genu recurvatum, Reduced bone mineral density, Joint hyperflex... |
ORPHA:1185 |
| Gm1 Gangliosidosis Type 1 |
|
