Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
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Hip contracture, Scapular winging, Lumbar hyperlordosis, Paraspinal muscle hypertrophy, Congenita... |
OMIM:602484 |
Poland Syndrome |
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Unilateral absence of pectoralis major muscle, Syndactyly, Unilateral oligodactyly, Unilateral hy... |
OMIM:173800 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
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Back pain, Skeletal muscle atrophy, Scapular winging, Short neck, Spinal rigidity, Achilles tendo... |
OMIM:300696 |
Autosomal Recessive Spondylocostal Dysostosis |
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Rib segmentation abnormalities, Low-set, posteriorly rotated ears, Finger syndactyly, Abnormal in... |
ORPHA:2311 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
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Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
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Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Restrictive ventilatory defect, Verteb... |
OMIM:608681 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
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Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, S... |
OMIM:619566 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
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Back pain, Death in infancy, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphol... |
OMIM:277300 |
Becker Nevus Syndrome |
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Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerar... |
ORPHA:64755 |
Cutis Laxa, Autosomal Recessive, Type Iie |
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Joint laxity, Syndactyly, Brachydactyly, Lumbar hyperlordosis, Inguinal hernia, Ovoid vertebral b... |
OMIM:619451 |
Femoral-Facial Syndrome |
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Inguinal hernia, Short femur, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Co... |
ORPHA:1988 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
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Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... |
ORPHA:3268 |
Autosomal Dominant Spondylocostal Dysostosis |
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Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Congenital Myopathy 10A, Severe Variant |
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Respiratory distress, Facial palsy, Camptodactyly of finger, Pectus excavatum, Increased variabil... |
OMIM:614399 |
Richieri Costa-Da Silva Syndrome |
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Joint dislocation, Decreased muscle mass, Diastasis recti, Kyphoscoliosis, Short neck, Metatarsus... |
ORPHA:3101 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
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Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... |
OMIM:613686 |
Congenital Muscular Dystrophy With Intellectual Disability |
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Neuropathic spinal arthropathy, Hypoglycosylation of alpha-dystroglycan, Multiple joint contractu... |
ORPHA:370968 |
Cerebrofaciothoracic Dysplasia |
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Low-set, posteriorly rotated ears, Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation ... |
ORPHA:1394 |
Stuve-Wiedemann Syndrome 2 |
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Respiratory distress, Bowing of the long bones, Dysphagia, Death in adolescence, Short long bone,... |
OMIM:619751 |
Schwartz-Jampel Syndrome, Type 1 |
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Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Short neck, Bowing of the... |
OMIM:255800 |
Metatropic Dysplasia |
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Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
Multiple Pterygium Syndrome, Escobar Variant |
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Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... |
OMIM:265000 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
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Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, Bell-shaped tho... |
OMIM:255710 |
Anauxetic Dysplasia 3 |
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Short metacarpal, Thoracolumbar kyphoscoliosis, Joint hypermobility, Pectus excavatum, Wide anter... |
OMIM:618853 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
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Hyperextensibility of the finger joints, Short neck, Hemivertebrae, Narrow chest, Self-mutilation... |
OMIM:213980 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
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Wide cranial sutures, Congenital hip dislocation, Inguinal hernia, Pectus excavatum, Hip dislocat... |
OMIM:219150 |
Neurogenic Thoracic Outlet Syndrome |
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Abnormal rib morphology |
ORPHA:100073 |
Basal Cell Nevus Syndrome 1 |
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Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Spina bifida, Kyphos... |
OMIM:109400 |
Spondylocostal Dysostosis 5 |
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Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Endosteal Hyperostosis, Worth Type |
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Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Se... |
ORPHA:2790 |
Autosomal Recessive Multiple Pterygium Syndrome |
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Skeletal muscle atrophy, Multiple pterygia, Symphalangism affecting the phalanges of the hand, Ab... |
ORPHA:2990 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
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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 |
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Facial palsy, Head titubation, Sensorineural hearing impairment, Rib fusion, Hemivertebrae, Ankle... |
OMIM:614688 |
Congenital Disorder Of Glycosylation, Type Iig |
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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 |
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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 |
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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 |
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Low-set, posteriorly rotated ears, Inguinal hernia, Diastasis recti, Craniosynostosis, Short neck... |
ORPHA:3134 |
Perching Syndrome |
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Respiratory distress, Scoliosis, Dysphagia, Joint contracture, Camptodactyly |
OMIM:617055 |
Robinow Syndrome, Autosomal Recessive 1 |
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Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... |
OMIM:268310 |
Thanatophoric Dysplasia |
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Brachydactyly, Redundant skin, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, S... |
ORPHA:2655 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
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Respiratory distress, Lumbar hyperlordosis, Centrally nucleated skeletal muscle fibers, Spinal ri... |
ORPHA:86812 |
Myopathy, Centronuclear, 1 |
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Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Weaver Syndrome |
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Low-set, posteriorly rotated ears, Finger syndactyly, Inguinal hernia, Sandal gap, Camptodactyly ... |
ORPHA:3447 |
Scarf Syndrome |
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Barrel-shaped chest, Inguinal hernia, Posteriorly rotated ears, Diastasis recti, Short neck, Abno... |
OMIM:312830 |
Fetal Akinesia Deformation Sequence 4 |
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11 pairs of ribs, Skeletal muscle atrophy, Posteriorly rotated ears, Rocker bottom foot, Short ne... |
OMIM:618393 |
Proximal 16P11.2 Microdeletion Syndrome |
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Congenital diaphragmatic hernia, Craniosynostosis, Abnormal repetitive mannerisms, Sensorineural ... |
ORPHA:261197 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
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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 |
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Encephalocele, Brachydactyly, Redundant skin, Kyphosis, Short thorax, Limitation of joint mobilit... |
ORPHA:93274 |
Isolated Klippel-Feil Syndrome |
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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 |
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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 |
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Facial palsy, Hyperlordosis, Flexion contracture, Hip dislocation, Respiratory insufficiency, Ske... |
OMIM:613156 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Redundant neck skin, Short neck, Flexion contracture, Hemivertebrae, Tibial bowing, Narrow chest,... |
ORPHA:96334 |
Neurogenic Arthrogryposis Multiplex Congenita |
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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 |
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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 |
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Skeletal muscle atrophy, Reduced vital capacity, Internally nucleated skeletal muscle fibers, Ort... |
ORPHA:178464 |
Geroderma Osteodysplastica |
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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 |
|
Broad long bone diaphyses, Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Macrog... |
ORPHA:79255 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Death in infancy, Crumpled long bones, Wide cranial sutures, ... |
OMIM:610682 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Thickened ribs, Short neck, Pectus carinatum, Cortical thickening of long bone diaphy... |
ORPHA:309282 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Redundant neck skin, Low-set ears, Brachydactyly |
OMIM:610498 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Myopathy, Increased variability in muscle fiber diameter,... |
OMIM:604377 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Abnormal pinna morphology, Postaxial polydactyly, Short neck, Lateral clavicle hook, Wide anterio... |
OMIM:617925 |
Nestor-Guillermo Progeria Syndrome |
|
Wide cranial sutures, Limited elbow movement, Joint stiffness, Delayed closure of the anterior fo... |
OMIM:614008 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Posteriorly rotated ears, Sensorineural hearing impairment, Knee flexion co... |
OMIM:618733 |
Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Vertebral segmentation d... |
ORPHA:373 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Short neck, Generalized joint laxity, Hyperextensible skin, Thoracic kyphosis... |
ORPHA:508498 |
Chitayat Syndrome |
|
Hallux valgus, Respiratory distress, Pectus excavatum, Tracheomalacia, Brachydactyly |
OMIM:617180 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Persistent open anterior fontanelle, Congenital hip dislocation, Inguinal hernia, Delayed cranial... |
ORPHA:357058 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Epistaxis, Cutis laxa |
OMIM:610842 |
Sclerosteosis 1 |
|
Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Facial pals... |
OMIM:269500 |
Noonan Syndrome With Multiple Lentigines |
|
Low-set, posteriorly rotated ears, Scapular winging, Pectus excavatum, Sensorineural hearing impa... |
ORPHA:500 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Redundant neck skin, Posteriorly rotated ears, Clinodactyly, Pica, Low-set ears, Camptodactyly, S... |
OMIM:617360 |
Myotonia Congenita, Autosomal Dominant |
|
Skeletal muscle hypertrophy |
OMIM:160800 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Ovoid vertebral bodies, Metaphyseal ... |
ORPHA:85167 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ... |
ORPHA:93324 |
Campomelia, Cumming Type |
|
Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Abnormal thorax morpho... |
ORPHA:1318 |
X-Linked Hypophosphatemia |
|
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... |
ORPHA:89936 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Barrel-shaped chest, Respiratory distress, Lumbar hyperlordosis, Short neck, Joint stiffness, Fle... |
ORPHA:505248 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Torticollis, Kyphoscoliosis, Dysphagia |
ORPHA:98805 |
Williams Syndrome |
|
Osteopenia, Redundant skin, Abnormal form of the vertebral bodies, Protruding ear, Vertebral segm... |
ORPHA:904 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size |
ORPHA:2348 |
Stiff Person Spectrum Disorder |
|
Lumbar hyperlordosis, Paraspinal muscle hypertrophy |
ORPHA:3198 |
Pparg-Related Familial Partial Lipodystrophy |
|
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... |
ORPHA:79083 |
Lymphangiectasia, Intestinal |
|
Stillbirth, Prominent floating ribs |
OMIM:152800 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Contractures of the large joints, Respiratory distress, Scoliosis |
ORPHA:329178 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... |
OMIM:609945 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Facial hypotonia, Glycogen accumulation in muscle fiber lysosome... |
ORPHA:365 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Anteverted ears, Long thorax, Narrow chest, Small earlobe, Prominent antitr... |
OMIM:616268 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Dysphagia |
ORPHA:240103 |
Congenital Generalized Lipodystrophy |
|
Skeletal muscle hypertrophy, Macroglossia, Bone cyst |
ORPHA:528 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Recurrent joint dislocation, Inguinal hernia, Recurrent fractures, Reduced bone mineral density, ... |
OMIM:619115 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Omphalocele, Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones, Pr... |
OMIM:616300 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Dysphagia, Increased susceptibility to fractures, Aspiration pneumonia, Cough, Attention deficit ... |
ORPHA:216866 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Joint hypermobility, Hiatus hernia, Proximal amyotrophy, Hyperextensible skin, Joint subluxation,... |
OMIM:606408 |
Mogs-Cdg |
|
Respiratory distress, Absent brainstem auditory responses, Thoracic scoliosis, Hypoventilation, A... |
ORPHA:79330 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... |
OMIM:211350 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Long ear, Aplasia... |
OMIM:276820 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Otosclerosis, Prominent metopic ridge, Inguinal hernia, Redundant skin, Congenital d... |
ORPHA:116 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Thin bony cortex, Joint stiffness, Broad metatarsal, Elbo... |
OMIM:608328 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Mixed hearing impairment, Posteriorly rotated ears, Congenital diaphragmati... |
OMIM:606164 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Multiple joint contractures, Short neck, Metaphyseal widening, Irregular ve... |
ORPHA:99646 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Skeletal muscle atrophy, Death in infancy, Respiratory insufficiency due to... |
OMIM:615512 |
Williams-Beuren Syndrome |
|
Osteopenia, Hallux valgus, Joint laxity, Inguinal hernia, Down-sloping shoulders, Kyphoscoliosis,... |
OMIM:194050 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Redundant neck skin, Posteriorly rotated ears, Overlapping fingers, Craniosynostosis, Rocker bott... |
OMIM:301056 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Thin ribs, Slender long bone, Decreased calvarial ossification, Arthrogryposis ... |
OMIM:618265 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Sensorineural hearing impairment, Apnea |
ORPHA:79097 |
Adnp Syndrome |
|
Respiratory distress, Oral-pharyngeal dysphagia, Abnormal finger morphology, Protruding ear, Comp... |
ORPHA:404448 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Joint laxity, Joint dislocation, Inguinal hernia, Arachnodactyly, Hiatus hernia, Generalized join... |
OMIM:130080 |
Holt-Oram Syndrome |
|
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Pectu... |
OMIM:142900 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Short neck,... |
ORPHA:508488 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Joint laxity, Respiratory distress, Sacral dimple, Posteriorly rotated ears, Postaxial polydactyl... |
OMIM:300968 |
Monosomy 9P |
|
Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Abnormality of the tars... |
ORPHA:261112 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Flexion contracture, Hypoplastic iliac wing, Clinodactyly of the 5th finger... |
OMIM:180849 |
Xylt1-Cdg |
|
Joint laxity, Joint dislocation, Coxa valga, Flared metaphysis, Short long bone, Short femoral ne... |
ORPHA:370930 |
Esophageal Atresia |
|
Omphalocele, Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic ... |
ORPHA:1199 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Pulmonary arterial hypertension, Neonatal respiratory distress, Redundant neck skin |
OMIM:619003 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Overtubulated long bones, Short clavicles |
OMIM:619793 |
Hallermann-Streiff Syndrome |
|
Hyperactivity, Wormian bones, Spina bifida, Hyperlordosis, Pectus excavatum, Metaphyseal widening... |
OMIM:234100 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Small hand, Thin ribs... |
OMIM:244460 |
Lysinuric Protein Intolerance |
|
Skeletal muscle atrophy, Recurrent fractures, Osteoporosis, Respiratory insufficiency, Cutis laxa... |
OMIM:222700 |
Noonan Syndrome 2 |
|
Posteriorly rotated ears, Short neck, Pectus excavatum, Cubitus valgus, Pectus carinatum, Shield ... |
OMIM:605275 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Wormian bones, Hyperlordosis, Kyphosis, H... |
OMIM:617821 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Short humerus, Short metacarpal, Abnormal pinna morphology, Short neck, Hum... |
ORPHA:3404 |
Macrocephaly/Autism Syndrome |
|
Joint laxity, Cutis laxa |
OMIM:605309 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Decreased muscle mass, Posteriorly rotated ears, Elbow contracture, Camptodactyl... |
OMIM:208150 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Myopathy, Reduced muscle carnitine level |
OMIM:212140 |
X-Linked Ehlers-Danlos Syndrome |
|
Umbilical hernia, Inguinal hernia, Hyperextensible skin, Joint hyperflexibility |
ORPHA:75497 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl... |
OMIM:613091 |
Cardiofaciocutaneous Syndrome 4 |
|
Pectus excavatum, Joint laxity, Hyperextensible skin, Scoliosis |
OMIM:615280 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Neonatal respiratory distress, Hydranencephaly, Spina bifida, Tracheomalacia, K... |
ORPHA:1393 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Joint laxity, Overlapping toe, Kyphoscoliosis, Pneumothorax, Knee flexion contracture, Cutis laxa... |
OMIM:617402 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Trisomy 18 |
|
Low-set, posteriorly rotated ears, Omphalocele, Camptodactyly of finger, Spina bifida, Congenital... |
ORPHA:3380 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Abnormal pinna morphology, Underfolded helix, Camptodactyly of finger, Short n... |
ORPHA:178303 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Noonan Syndrome 10 |
|
Short neck, Pectus excavatum, Pectus carinatum, Hyperextensible skin, Low-set ears, Scoliosis, Pa... |
OMIM:616564 |
Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... |
OMIM:117650 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Missing ribs, Abnormal rib morphology, Aplasia/Hypoplasia involvin... |
ORPHA:3301 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Aggressive behavior |
OMIM:237310 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Dystonia 7, Torsion |
|
Skeletal muscle hypertrophy, Torticollis |
OMIM:602124 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Autophagic vacuoles, Facial palsy, Hypercapnia, Reduced forced vital capaci... |
OMIM:164310 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Joint hyperflexibility, Self-mutilation, Redundant skin |
ORPHA:52503 |
Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Recurrent fractures, Hyperextensibility of the knee, Sensorineural hearing impairm... |
OMIM:601812 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Neonatal death, Wide anterior fontanel, Abnormal pinna morphology, Respiratory distress |
OMIM:231680 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Skeletal muscle atrophy, Inguinal hernia, Pulmonary arterial hypertension |
OMIM:619272 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Acroosteolysis of distal phalanges (feet), Proximal upper limb muscle hypertrophy, Osteolytic def... |
ORPHA:280365 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Respiratory distress, Sacral dimple, Bowing of the long bones, Apnea, Camptodactyly o... |
ORPHA:3206 |
Agel Amyloidosis |
|
Dry skin, Facial palsy, Hearing impairment, Cutis laxa |
ORPHA:85448 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... |
ORPHA:264675 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen cont... |
ORPHA:367 |
Nipah Virus Disease |
|
Respiratory distress, Anorexia, Cough |
ORPHA:99825 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Toe syndactyly, Redundant skin, Camptodactyly of finger, Excessive wrinkled skin, Mi... |
ORPHA:920 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Inguinal hernia, Thickened ribs, Camptodactyly of finger, Diaphyseal thickening, Se... |
ORPHA:217085 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Macrotia |
ORPHA:261304 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Facial diplegia, Obsessive-compulsive trait, Dysphagia |
OMIM:160900 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al... |
ORPHA:178320 |
Cutis Laxa, Autosomal Dominant 1 |
|
Inguinal hernia, Redundant skin, Dyspnea, Bronchiectasis, Cutis laxa, Hyperextensible skin, Emphy... |
OMIM:123700 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Inguinal hernia, Long clavicles, Arachnodactyly, Overlapping toe, Contractu... |
ORPHA:83617 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglotti... |
OMIM:617088 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Inguinal hernia, Thickened ribs, Camptodactyly of finger, Diaphyseal thickening, Se... |
ORPHA:217093 |
Cidec-Related Familial Partial Lipodystrophy |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy |
ORPHA:435651 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Joint stiffness, Pectus excavatum, Abnormal thorax morphology, Flexion contracture, Lack of skin ... |
ORPHA:1979 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Flexion contracture, Thin ribs |
OMIM:614833 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint laxity, Joint dislocation, Posteriorly rotated ears, Diastasis recti, Arachnodactyly, Hiatu... |
OMIM:601776 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Abnormal thorax morphology, Tachypnea, Nasal flaring, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Restlessness, Facial hypotonia, Oral-pharyngeal dysphagia, Osteoporosis, Sm... |
OMIM:615273 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Prominent metopic ridge, Apnea, Recurrent pneumonia, Polyd... |
ORPHA:314655 |
Lipe-Related Familial Partial Lipodystrophy |
|
Skeletal muscle hypertrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in... |
ORPHA:435660 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Hypoplasia of the ulna, Lateral clavicle hook, Early ossification of capital fe... |
OMIM:208500 |
Werner Syndrome |
|
Skeletal muscle atrophy, Increased bone mineral density, Miscarriage, Rocker bottom foot, Joint s... |
ORPHA:902 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... |
OMIM:600002 |
Craniorachischisis |
|
Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal... |
ORPHA:63260 |
Oculocerebrorenal Syndrome Of Lowe |
|
Protruding ear, Compulsive behaviors, Abnormal repetitive mannerisms, Low-set, posteriorly rotate... |
ORPHA:534 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sensorineural hearing imp... |
OMIM:220110 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Agitation, Abnormal repetitive mannerisms |
ORPHA:927 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu... |
ORPHA:2414 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Sensorineural hearing impairment, Osteoporosis, Lack of skin elasticity, Scoliosis, Joi... |
OMIM:615381 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Respiratory insufficiency, Joint hypermobility, Thin ribs |
ORPHA:456328 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Anorexia |
ORPHA:79312 |
Brittle Cornea Syndrome |
|
Hallux valgus, Arachnodactyly, Conductive hearing impairment, Sensorineural hearing impairment, O... |
ORPHA:90354 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... |
ORPHA:93259 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Hypomimic face, Abnormal posturing, Dysphagia, Titubation |
ORPHA:225147 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Overlapping toe, Short neck, Abnormal repetitive mannerisms, Small hand, He... |
ORPHA:177907 |
Japanese Encephalitis |
|
Respiratory distress, Skeletal muscle atrophy, Stiff neck, Genu recurvatum, Facial palsy, Anorexi... |
ORPHA:79139 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Pagod Syndrome |
|
Encephalocele, Abnormal clavicle morphology, Death in infancy, Omphalocele, Spina bifida, Congeni... |
ORPHA:991 |
Smith-Lemli-Opitz Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Abnormal form of the ve... |
ORPHA:818 |
Neu-Laxova Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Osteomalacia, Spina bifida, Flexion contracture, Osteoporosi... |
ORPHA:2671 |
Restrictive Dermopathy 1 |
|
Limb joint contracture, Rocker bottom foot, Kyphoscoliosis, Thin clavicles, Wide anterior fontane... |
OMIM:275210 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Skeletal muscle atrophy, Short humerus, Short femur, Apnea, Aggressive beha... |
ORPHA:17 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Tularemia |
|
Respiratory distress, Pleural effusion, Pneumonia, Cough |
ORPHA:3392 |
Choanal Atresia |
|
Respiratory distress, Craniosynostosis, Upper airway obstruction, Polydactyly, Choking episodes, ... |
ORPHA:137914 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Low-set ears, Cutis laxa |
OMIM:270420 |
Coccidioidomycosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Cough, Osteolysis, Abnormal long bone morphology,... |
ORPHA:228123 |
Menkes Disease |
|
Bowing of the long bones, Osteomyelitis, Inguinal hernia, Recurrent fractures, Tarsal synostosis,... |
ORPHA:565 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Posteriorly rotated ears, Hyperlordosis, Tapered finger, Abnormal repetitive mannerisms, Aggressi... |
OMIM:301066 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Pectus excavatum, Dyspnea, Hyperextensible skin, Scoliosis, Joint hypermobility |
ORPHA:555877 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Joint stiffness, Split hand, Abnormal rib morphology, Poplitea... |
ORPHA:1300 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Myositis, Osteomyelitis, Sinusitis, Pneumonia, Tachypnea, Septic arthritis,... |
ORPHA:36234 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Wide distal... |
OMIM:269150 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Hypoplastic vertebral bodies, Long toe, 2-3 toe syndactyly, Low-set ears, Widely pate... |
ORPHA:3455 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Proximal placement of thumb, Preaxial hand polydactyly, Microtia, Atresia o... |
OMIM:610536 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Respiratory insufficiency, Thin ribs, Pleural effusion, Pete... |
OMIM:617397 |
Fibromuscular Dysplasia, Multifocal |
|
Soft skin, Joint hypermobility, Hiatus hernia, Pectus excavatum, Hyperextensible skin, Joint subl... |
OMIM:619329 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia |
ORPHA:97285 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Skeletal muscle hypertrophy, Osteoarthritis, Long ear, Aggressive behavior |
OMIM:619714 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Craniosynostosis, Aplasia/Hypoplasia of the earlobes, Thickened helices, Um... |
ORPHA:1555 |
Costello Syndrome |
|
Barrel-shaped chest, Hyperextensibility of the finger joints, Redundant neck skin, Posteriorly ro... |
OMIM:218040 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Increased variability in muscle fiber diameter, Stridor |
OMIM:615595 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
Kleefstra Syndrome Due To A Point Mutation |
|
Inguinal hernia, Uplifted earlobe, Tapered finger, Self-injurious behavior, Hyperextensible skin,... |
ORPHA:261652 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Redundant neck skin, Posteriorly rotated ears, Overlapping toe, Craniosynos... |
OMIM:123790 |
Pseudoxanthoma Elasticum |
|
Abnormal thorax morphology, Lack of skin elasticity, Excessive wrinkled skin, Joint hyperflexibil... |
ORPHA:758 |
Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Ankle clonus, Respiratory f... |
ORPHA:206436 |
Oromandibular Dystonia |
|
Respiratory distress, Torticollis, Dysphagia, Bruxism |
ORPHA:93958 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Death in infancy, Inguinal hernia, Redundant neck skin, Short neck, Postaxial hand polydactyly, N... |
OMIM:235255 |
Doors Syndrome |
|
11 pairs of ribs, Respiratory distress, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagit... |
ORPHA:79500 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Skeletal muscle atrophy, Respiratory distress, Swelling of proximal interphalangea... |
ORPHA:3260 |
Pseudoxanthoma Elasticum |
|
Decreased DLCO, Cutis laxa |
OMIM:264800 |
Auriculocondylar Syndrome |
|
Low-set, posteriorly rotated ears, Respiratory distress, Abnormal pinna morphology, Cleft helix, ... |
ORPHA:137888 |
Barber-Say Syndrome |
|
Brachydactyly, Redundant skin, Extra concha fold, Hearing impairment, Low-set ears, Clinodactyly ... |
OMIM:209885 |
Barber-Say Syndrome |
|
Abnormal pinna morphology, Redundant skin, Hyperextensible skin, Atresia of the external auditory... |
ORPHA:1231 |
Sandifer Syndrome |
|
Hiatus hernia, Abnormal posturing, Torticollis, Decreased cervical spine mobility |
ORPHA:71272 |
Fryns Syndrome |
|
Omphalocele, Rocker bottom foot, Proximal placement of thumb, Short neck, Short thumb, Thin ribs,... |
OMIM:229850 |
Immunodeficiency 47 |
|
Death in infancy, Sensorineural hearing impairment, Joint hypermobility, Cutis laxa |
OMIM:300972 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Facial hypotonia, Anorexia, Oral-pharyngeal dysphagia, Aggressive be... |
ORPHA:2131 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Erythema, Upper airway obstruction |
ORPHA:100057 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... |
ORPHA:93260 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Death in infancy, Redundant neck skin, Posteriorly rotated ears, Low-set ears |
OMIM:611719 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction, Low-set ears |
OMIM:612776 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Sensorineural hearing impairment |
ORPHA:254913 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia, Low-set ears, Conductive hearing impairment, Synotia |
OMIM:202650 |
Tetanus |
|
Respiratory distress, Stiff neck, Tachypnea, Dysphagia |
ORPHA:3299 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Myelofibrosis, Joint laxity, Inguinal hernia, Hyperactivity, Posteriorly rotated ears, Short neck... |
OMIM:607721 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood |
OMIM:615597 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... |
OMIM:263520 |
Axenfeld-Rieger Syndrome |
|
Redundant skin, Hearing impairment |
ORPHA:782 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Apnea, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, ... |
ORPHA:667 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Postaxial foot polydactyly,... |
OMIM:225500 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Scoliosis, Broad ... |
OMIM:277600 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia, Hearing impa... |
OMIM:606763 |
Charge Syndrome |
|
Low-set, posteriorly rotated ears, Brachydactyly, Facial palsy, External ear malformation, Abnorm... |
ORPHA:138 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Sandal gap, Cupped ear, Small hand, Low-set ears, Prominent fingertip pads |
OMIM:612863 |
Ablepharon-Macrostomia Syndrome |
|
Omphalocele, Short metacarpal, Microtia, third degree, Toe syndactyly, Redundant skin, Cutaneous ... |
OMIM:200110 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Flexion contracture |
OMIM:618201 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Respi... |
ORPHA:308552 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation, Myelopathy, Sensorineural hearing impairment, Limb... |
ORPHA:79241 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure, Arachnodactyly |
ORPHA:2707 |
Gracile Bone Dysplasia |
|
Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, ... |
OMIM:602361 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Hyperactivity, Abnormal eating behavior, Ast... |
ORPHA:209905 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Anorexia |
ORPHA:79242 |
Geleophysic Dysplasia 1 |
|
Osteopenia, Camptodactyly of finger, Joint stiffness, Pectus excavatum, Coxa valga, Lack of skin ... |
OMIM:231050 |
Antisynthetase Syndrome |
|
Joint dislocation, Myositis, Lack of skin elasticity, Respiratory insufficiency, Dysphagia, Cough... |
ORPHA:81 |
Vascular Ehlers-Danlos Syndrome |
|
Joint dislocation, Inguinal hernia, Congenital hip dislocation, Redundant skin, Pectus excavatum,... |
ORPHA:286 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Hearing impairment, Flexion contracture, Limitation of joint... |
ORPHA:90153 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Exercise-induced rhabdomyolysis, Pneumonia, Episodic tachypnea, Tachypnea |
ORPHA:26793 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Erythema, Abnormal rib morphology, Skin ulcer, Joint ... |
ORPHA:2907 |
Restrictive Dermopathy |
|
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... |
ORPHA:1662 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Listeriosis |
|
Back pain, Respiratory distress, Stiff neck, Miscarriage, Osteomyelitis, Pneumonia, Rhabdomyolysi... |
ORPHA:533 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
External ear malformation, Facial hypotonia, Respiratory distress |
ORPHA:438216 |
Mercury Poisoning |
|
Respiratory distress, Anorexia, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Hypoxemia |
ORPHA:464453 |
Vici Syndrome |
|
Sensorineural hearing impairment, Myopathy, Low-set ears, Dysphagia, Left ventricular hypertrophy... |
OMIM:242840 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Inguinal hernia, Redundant neck skin, Short neck, Postaxial hand polydactyly, Narrow chest, Low-s... |
ORPHA:1655 |
Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Inguinal hernia, Wormian bones, Apnea, Elbow dislocation, Osteoarthritis, Apla... |
ORPHA:285 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Joint dislocation, Recurrent fractures, Hyperextensible skin, Joint hypermobility, Dermal translu... |
OMIM:619120 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Flexion contracture, Recurrent pneumonia |
OMIM:616271 |
Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Broad femoral neck, Increased intervertebral space, Broad ischia, Diaphyse... |
OMIM:619727 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Stiff neck, Crackles, Nonproductive cough, Rhinitis, Dysphagia, Ecchymosis,... |
ORPHA:319213 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Short femur, Pneumothorax, Short tibia, Limb hypertonia |
OMIM:620306 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia |
ORPHA:238459 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Prominent fingertip pads, Sacral dimple, Impulsivity, Hyperlordosis, Short neck, Tapered finger, ... |
OMIM:619950 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Flexion contracture, Narrow chest, Generalized amyotrophy, Small earlobe, Genu varum,... |
OMIM:264090 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Redundant neck skin, Aplasia/Hypoplasia of the scapu... |
ORPHA:3472 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Redundant neck skin |
OMIM:617967 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Narrow internal auditory canal, Respiratory distress, Synotia |
ORPHA:990 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular ... |
ORPHA:51608 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Short ... |
OMIM:216340 |
Mend Syndrome |
|
Sacral dimple, Redundant neck skin, Posteriorly rotated ears, Broad hallux, Overlapping toe, Hype... |
OMIM:300960 |
Vater/Vacterl Association |
|
Occipital encephalocele, Syndactyly, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ... |
OMIM:192350 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Umbilical hernia, Cervical ribs, Congenital diaphragmatic hernia |
ORPHA:2255 |
Charge Syndrome |
|
Hemivertebrae, Hand monodactyly, Self-mutilation, Hypoplasia of the ulna, Facial palsy, Aplasia o... |
OMIM:214800 |
Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Inguinal hernia, Phalangeal dislocation, Hiatus hernia, Osteoarthritis, Generalized j... |
ORPHA:287 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Respiratory distress, Congenital hip dislocation, Low-set, posteriorly rotated ears, ... |
ORPHA:480880 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Myopathy, Dyspnea |
OMIM:115197 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Joint laxity, Hyperextensible skin, Petechiae, Striae distensae |
OMIM:225310 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Osteolysis, Pleural effusion, Cough, Lim... |
ORPHA:1546 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
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Respiratory distress, Skeletal muscle atrophy, Osteomyelitis leading to amputation due to slow he... |
OMIM:256810 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
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Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Asthma, Nasal fl... |
ORPHA:466943 |
Nasolacrimal Duct Cyst |
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Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
Cocaine Intoxication |
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Respiratory distress, Wheezing, Rhabdomyolysis, Tachypnea, Pneumothorax, Agitation, Cough, Hyperv... |
ORPHA:90068 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Osteopenia, Sandal gap, Delayed cranial suture closure, Decreased fibular diameter, Pectus excava... |
OMIM:619127 |
Kindler Epidermolysis Bullosa |
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Finger syndactyly, Camptodactyly of finger, Flexion contracture, Erythema, Abnormal rib morpholog... |
ORPHA:2908 |
Multiple Benign Circumferential Skin Creases On Limbs |
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Low-set, posteriorly rotated ears, Inguinal hernia, External ear malformation, Increased number o... |
ORPHA:2505 |
Neurooculocardiogenitourinary Syndrome |
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Sensorineural hearing impairment, Redundant neck skin, Low-set ears |
OMIM:618652 |
Heterotaxy, Visceral, 1, X-Linked |
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Omphalocele, Absence of the sacrum, Respiratory distress, Congenital hip dislocation, Block verte... |
OMIM:306955 |
Microphthalmia With Linear Skin Defects Syndrome |
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Respiratory distress, Sacral dimple, Congenital diaphragmatic hernia, Dyspnea, Erythema, Abnormal... |
ORPHA:2556 |
B4Galt1-Cdg |
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Redundant neck skin, Low-set ears |
ORPHA:79332 |
Scimitar Syndrome |
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Respiratory distress, Abnormal hemidiaphragm morphology, Pneumothorax, Hypoplasia of the diaphrag... |
ORPHA:185 |
Toxic Epidermal Necrolysis |
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Respiratory distress, Erythema, Skin ulcer, Dysphagia, Restrictive ventilatory defect, Cough, Pol... |
ORPHA:537 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Apnea, Dyspnea, Sensorineural hearing impairment, Ragged-red muscle fibers, Episodic respiratory ... |
ORPHA:255210 |
Osteopetrosis, Autosomal Recessive 7 |
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Abnormal trabecular bone morphology, Multiple rib fractures, Death in infancy, Femur fracture, Re... |
OMIM:612301 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Finger syndactyly, Posteriorly rotated ears, Down-sloping shoulders, Short foot, Joint hyperflexi... |
ORPHA:1974 |
Hemorrhagic Fever-Renal Syndrome |
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Back pain, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Agitation, C... |
ORPHA:340 |
Q Fever |
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Respiratory distress, Osteomyelitis, Pneumonia, Anorexia, Cough, Pleural effusion, Purpura |
ORPHA:781 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
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Respiratory distress |
OMIM:251000 |
Sepsis In Premature Infants |
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Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Abnormal respiratory system physiology, P... |
ORPHA:90051 |
Dextrocardia |
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Congenital hip dislocation, Abnormal rib morphology |
ORPHA:1666 |
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
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Redundant neck skin, Posteriorly rotated ears, Proximal placement of thumb, Sensorineural hearing... |
OMIM:604314 |
Lipodystrophy, Familial Partial, Type 2 |
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Skeletal muscle hypertrophy, Increased intramuscular fat |
OMIM:151660 |
Atypical Werner Syndrome |
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Sclerosis of hand bone, Skeletal muscle atrophy, Increased bone mineral density, Rocker bottom fo... |
ORPHA:79474 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Hallux valgus, Spontaneous, recurrent epistaxis, Pectus excavatum, Sensorineural hearing impairme... |
ORPHA:2072 |
Congenital Alveolar Capillary Dysplasia |
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Respiratory distress, Pulmonary arterial hypertension, Abnormal vertebral morphology |
ORPHA:210122 |
Alagille Syndrome 1 |
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Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Low-set ears, Macrotia, Butterfly... |
OMIM:118450 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Respiratory distress, Myositis, Osteomyelitis, Pneumonia, Interstitial pneumonitis |
ORPHA:37042 |
Congenital Enterovirus Infection |
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Respiratory distress, Pleural effusion |
ORPHA:292 |
Gitelman Syndrome |
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Respiratory distress, Salt craving, Rhabdomyolysis, Gout, Polydipsia, Tinnitus, Chondrocalcinosis |
ORPHA:358 |
Down Syndrome |
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Short palm, Joint laxity, Redundant neck skin, Sandal gap, Short middle phalanx of the 5th finger... |
OMIM:190685 |
Papillorenal Syndrome |
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Joint laxity, Sensorineural hearing impairment, Hyperextensible skin, Scoliosis, Soft skin |
OMIM:120330 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Low-set, posteriorly rotated ears, Hallux valgus, Pectus excavatum, Short metatarsal, Scoliosis, ... |
ORPHA:1772 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Respiratory distress, Apnea, Macroglossia, Myopathy, Pleural effusion |
OMIM:261740 |
Townes-Brocks Syndrome |
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Broad hallux phalanx, Toe syndactyly, External ear malformation, Preaxial hand polydactyly, Parti... |
ORPHA:857 |
Rodrigues Blindness |
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Nasal flaring, Protruding ear |
OMIM:268320 |
Gabriele-De Vries Syndrome |
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Distal lower limb amyotrophy, Hallux valgus, Facial hypotonia, Posteriorly rotated ears, Craniosy... |
ORPHA:506358 |
Parkes Weber Syndrome |
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Back pain, Abnormal femoral metaphysis morphology, Myelopathy, Skin ulcer, Scaling skin, Lower li... |
ORPHA:90307 |
Complete Atrioventricular Septal Defect |
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Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... |
ORPHA:1329 |
Inhalational Anthrax |
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Respiratory distress, Dyspnea |
ORPHA:247257 |
Ethylene Glycol Poisoning |
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Facial palsy, Tachypnea, Episodic respiratory distress, Addictive alcohol use, Abnormal pattern o... |
ORPHA:31826 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
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Joint laxity, Sensorineural hearing impairment, Drumstick terminal phalanges, Hyperextensible ski... |
ORPHA:541423 |
Nocardiosis |
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Respiratory distress, Osteomyelitis, Pneumonia, Anorexia, Productive cough, Nonproductive cough, ... |
ORPHA:31204 |
Ehlers-Danlos Syndrome, Vascular Type |
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Pulmonary bulla, Inguinal hernia, Spontaneous pneumothorax, Repeated pneumothoraces, Pectus excav... |
OMIM:130050 |
Hereditary Angioedema Type 1 |
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Respiratory distress, Dyspnea, Inspiratory stridor, Dysphagia |
ORPHA:100050 |
Ramos-Arroyo Syndrome |
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Respiratory distress, Self-mutilation, Bilateral sensorineural hearing impairment |
ORPHA:1051 |
Unilateral Polymicrogyria |
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Apnea, Epistaxis, Pseudobulbar paralysis, Infantile sensorineural hearing impairment, Abnormal po... |
ORPHA:268943 |
Kosaki Overgrowth Syndrome |
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Hyperextensible skin, Thoracolumbar scoliosis, Scoliosis |
OMIM:616592 |
Mowat-Wilson Syndrome |
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Uplifted earlobe, Pectus excavatum, Cupped ear, Generalized muscle hypertrophy, Pectus carinatum,... |
OMIM:235730 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
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Torticollis, Neck muscle hypertrophy, Hyperventilation |
ORPHA:420492 |
Hutchinson-Gilford Progeria Syndrome |
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Osteoarthritis, Reduced bone mineral density, Conductive hearing impairment, Limitation of moveme... |
ORPHA:740 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Respiratory distress, Pulmonary arterial hypertension, Low-set ears, Pulmonary embolism |
ORPHA:79282 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
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Respiratory distress, Rhinitis, Periorbital wrinkles, Soft skin, Dry skin |
OMIM:305100 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Narrow chest... |
OMIM:614748 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
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Neonatal respiratory distress, Redundant neck skin, Low-set ears, Umbilical hernia, Clinodactyly,... |
OMIM:618164 |
Pachyonychia Congenita |
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Respiratory distress |
ORPHA:2309 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
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Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ... |
OMIM:618426 |
Methylmalonic Aciduria, Cblb Type |
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Respiratory distress |
OMIM:251110 |
Osteopetrosis With Renal Tubular Acidosis |
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Recurrent fractures, Pectus excavatum, Osteopetrosis, Conductive hearing impairment, Pulmonary ar... |
ORPHA:2785 |
Methylmalonic Aciduria, Cbla Type |
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Respiratory distress |
OMIM:251100 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Respiratory distress, Pneumonia, Abnormal fingertip morphology, Dyspnea, Pneumothorax, Osteoporos... |
ORPHA:79404 |
Tuberous Sclerosis Complex |
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Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha... |
ORPHA:805 |
Plague |
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Respiratory distress, Anorexia, Abnormality of the elbow, Skin ulcer, Acute infectious pneumonia,... |
ORPHA:707 |
Lymphatic Malformation 7 |
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Respiratory distress, Pleural effusion, Chylothorax |
OMIM:617300 |
Okamoto Syndrome |
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Omphalocele, Prominent metopic ridge, Redundant neck skin, Hip dysplasia, Polydactyly, Abnormal h... |
ORPHA:2729 |
Colchicine Poisoning |
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Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Respiratory distress |
OMIM:274150 |
Congenital Tracheal Stenosis |
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Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Abnormal earlobe morphology, Upper ai... |
ORPHA:141127 |
Kasabach-Merritt Syndrome |
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Respiratory distress, Hypopnea, Petechiae, Purpura |
ORPHA:2330 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Anorexia, Or... |
ORPHA:95455 |
Leptospirosis |
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Respiratory distress, Anorexia, Rhabdomyolysis, Cough, Pleural effusion |
ORPHA:509 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
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Respiratory distress, Death in infancy |
OMIM:617156 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
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Sacral dimple, Redundant neck skin, Short metacarpal, Brachydactyly, Short neck, Short metatarsal... |
OMIM:617157 |
Aortic Arch Interruption |
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Left ventricular hypertrophy, Tachypnea, Respiratory distress, Exertional dyspnea |
ORPHA:2299 |
Congenital Total Pulmonary Venous Return Anomaly |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... |
ORPHA:99125 |
Isolated Arrhinia |
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Respiratory distress, Microtia |
ORPHA:1134 |
Eisenmenger Syndrome |
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Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Clubbing, Hypoxemia, Pul... |
ORPHA:97214 |
Leprechaunism |
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Skeletal muscle atrophy, Hyperextensible skin, Low-set ears, Protruding ear |
ORPHA:508 |
Pmm2-Cdg |
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Osteopenia, Joint laxity, Respiratory distress, Multiple joint contractures, Abnormal pinna morph... |
ORPHA:79318 |
Lacrimoauriculodentodigital Syndrome 1 |
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Hypoplasia of the ulna, Mixed hearing impairment, Broad hallux, Absent radius, Short thumb, Parti... |
OMIM:149730 |
Alström Syndrome |
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Respiratory distress, Thoracic scoliosis, Kyphosis, Short toe, Chronic pulmonary obstruction, Rec... |
ORPHA:64 |