| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Knee flexion contracture, Hip contracture, Congenital foot contractures, Narrow pelvis bone, Para... |
OMIM:602484 |
| Poland Syndrome |
|
Unilateral oligodactyly, Short ribs, Unilateral hypoplasia of pectoralis major muscle, Unilateral... |
OMIM:173800 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Respiratory insufficiency, Increased variability in muscle fiber diameter, Back pain, Spinal rigi... |
OMIM:300696 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Meningocele, Umbilical hernia, Short thorax, Respiratory insufficiency, ... |
ORPHA:2311 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb... |
OMIM:609813 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral clefting, Vertebral segmentation defect, Short neck, Rib fusion, Restrictive ventilator... |
OMIM:608681 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Spinal rigidity, Muscul... |
OMIM:619566 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Death in infancy, Vertebral segmentation defect, Ky... |
OMIM:277300 |
| Becker Nevus Syndrome |
|
Kyphosis, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Abnormality of tibia morpho... |
ORPHA:64755 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Genu varum, Short thorax, Cutis laxa, Hip dislocation, Joint laxity, Clinodactyly of the 5th fing... |
OMIM:619451 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Microtia, Vertebral segmentation defect, Hip dysplasi... |
ORPHA:1988 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Finger syndactyly, Radioulnar synostosis, Clinodactyly of the 5th finge... |
ORPHA:3268 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short thorax, Vertebral segmentation defect, Missing ribs, Posterior rib fusion, A... |
ORPHA:1797 |
| Richieri Costa-Da Silva Syndrome |
|
Genu valgum, Joint dislocation, Generalized bone demineralization, Decreased muscle mass, Diastas... |
ORPHA:3101 |
| Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Increased variability in muscle fiber diameter, Respiratory insufficienc... |
OMIM:614399 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Limb-girdle muscle weakness, Multiple joint contractures, Neuropathic ... |
ORPHA:370968 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Bell-shaped thorax, Vertebral fusion, Short thorax, Myelomeningocele, Block vertebrae, Vertebral ... |
OMIM:613686 |
| Cerebrofaciothoracic Dysplasia |
|
Bifid ribs, Narrow chest, Vertebral segmentation defect, Sprengel anomaly, Short neck, Rib fusion... |
ORPHA:1394 |
| Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Thoracic hypoplasia, Short long bone, Camptodactyly, Respiratory... |
OMIM:619751 |
| Metatropic Dysplasia |
|
Respiratory insufficiency, Flexion contracture, Flared iliac wing, Long coccyx, Enlarged joints, ... |
OMIM:156530 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Neck pterygia, Conductive hearing impairment, Flexion contracture, Multiple joint contractures, A... |
OMIM:265000 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Wrist flexion contracture, Coxa valga, Short neck, Skeletal muscle hypertrophy, Flexion contractu... |
OMIM:255800 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Bell-shaped thorax, Genu valgum, Firm muscles, Vertebral wedging, Kyphoscoliosis, Skeletal muscle... |
OMIM:255710 |
| Anauxetic Dysplasia 3 |
|
Hip subluxation, Genu valgum, Metaphyseal cupping, Wide anterior fontanel, Short metacarpal, Cuti... |
OMIM:618853 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Distal amyotrophy, Macrotia, Hyperextensible skin, Cutis laxa, Hip dislocation, Joint hypermobili... |
OMIM:219150 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Posterior... |
OMIM:122600 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Recurrent sinusitis, Pectus excavatum, Overlapping toe, Short neck, Postaxial hand polydactyly, B... |
OMIM:213980 |
| Endosteal Hyperostosis, Worth Type |
|
Sensorineural hearing impairment, Abnormal cortical bone morphology, Craniofacial hyperostosis, G... |
ORPHA:2790 |
| Basal Cell Nevus Syndrome 1 |
|
Bifid ribs, Polydactyly, Vertebral fusion, Abnormal sternum morphology, Short 4th metacarpal, Sho... |
OMIM:109400 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, Conductive hearing impairment, Pectus excavatum, Spina bifida occulta, A... |
ORPHA:2990 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Knee flexion contracture, Respiratory insufficiency, Hip contracture, Spinal muscular atrophy, Sh... |
ORPHA:1145 |
| Diastrophic Dysplasia |
|
Camptodactyly of finger, Respiratory insufficiency, Increased bone mineral density, Elbow disloca... |
ORPHA:628 |
| Pontine Tegmental Cap Dysplasia |
|
Ankle clonus, Sensorineural hearing impairment, Aspiration, Rib fusion, Scoliosis, Head titubatio... |
OMIM:614688 |
| Muscular Dystrophy, Congenital, 1B |
|
Spinal rigidity, Achilles tendon contracture, Congenital muscular dystrophy, Generalized muscle h... |
OMIM:604801 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hyperlordosis, Flexion contracture, Muscular dystrophy, Pectus excavatum, Skeletal muscle hypertr... |
OMIM:611588 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Conductive hearing impairment, Butterfly vertebrae, Camptodactyly, Cholesteatoma, Short neck, Pos... |
OMIM:611209 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Respiratory insufficiency, Advanced ossification of carpal bones, Hip dislocation, Pectus excavat... |
OMIM:615349 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Halberd-shaped... |
ORPHA:2635 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Short thorax, Myelomeningocele, Enlarged thorax, M... |
ORPHA:66637 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Shoulder dislocation, Spatulate thumbs, Hallux valgus, Elbow flexion contracture, Hip dislocation... |
OMIM:245600 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Elbow flexion contracture, Hip dislocation, Dislocated radial head, Limited elbow extension, Abno... |
ORPHA:93359 |
| Perching Syndrome |
|
Camptodactyly, Respiratory distress, Scoliosis, Dysphagia, Joint contracture |
OMIM:617055 |
| Thanatophoric Dysplasia |
|
Respiratory insufficiency, Short thorax, Kyphosis, Abnormal metaphysis morphology, Narrow chest, ... |
ORPHA:2655 |
| Scarf Syndrome |
|
Short sternum, Umbilical hernia, Diastasis recti, Cutis laxa, Inguinal hernia, Short neck, Joint ... |
ORPHA:3134 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Delayed cranial suture closure, Pectus excavatum, Dislocated radial head, Short neck, Radial devi... |
OMIM:268310 |
| Weaver Syndrome |
|
Camptodactyly of finger, Macrotia, Finger syndactyly, Inguinal hernia, Redundant skin, Broad thum... |
ORPHA:3447 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
ORPHA:86812 |
| Myopathy, Centronuclear, 1 |
|
Hyperlordosis, Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial palsy, EMG... |
OMIM:160150 |
| Scarf Syndrome |
|
Short sternum, Diastasis recti, Cutis laxa, Coronal craniosynostosis, Barrel-shaped chest, Inguin... |
OMIM:312830 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Prenatal death, Kyphosis, Camptodactyly, Short neck, Skeletal muscle atrophy, R... |
OMIM:618393 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory failure, Missing ribs, Clinodactyly of the 5th finger, Abnormal antitragus morphology... |
ORPHA:2759 |
| Thanatophoric Dysplasia Type 1 |
|
Respiratory insufficiency, Hypoplastic ilia, Kyphosis, Short greater sciatic notch, Wide anterior... |
ORPHA:1860 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal irregularity, Enlargement of the costochondral junction, Sclerotic humeral metaphysis... |
OMIM:609052 |
| Thanatophoric Dysplasia Type 2 |
|
Respiratory insufficiency, Short thorax, Encephalocele, Kyphosis, Limitation of joint mobility, B... |
ORPHA:93274 |
| Myopathic Ehlers-Danlos Syndrome |
|
Foot joint contracture, Flexion contracture, Tapered finger, Multiple joint contractures, Patella... |
ORPHA:536516 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory insufficiency, Flexion contracture, Patellar dislocation, Hallux valgus, Multiple joi... |
ORPHA:536471 |
| Isolated Klippel-Feil Syndrome |
|
Spina bifida, Abnormal sacrum morphology, Abnormal vertebral segmentation and fusion, Hearing imp... |
ORPHA:2345 |
| Aicardi Syndrome |
|
Bifid ribs, Small hand, Block vertebrae, Hip dysplasia, Supernumerary ribs, Missing ribs, Butterf... |
ORPHA:50 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Limited elbow movement, Kyphosis, Joint contracture of the hand, Hallux valgus, Dislocation of to... |
OMIM:300280 |
| Aicardi Syndrome |
|
Bifid ribs, Block vertebrae, Spina bifida, Supernumerary ribs, Missing ribs, Butterfly vertebrae,... |
OMIM:304050 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Shoulder dislocation, Macrotia, Hyperextensible skin, Hallux valgus, Generalized joint laxity, Fa... |
OMIM:618000 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Spinal dysraphism, Coxa valga, Flexion contracture, Thoracic hypoplasia, Epiphyseal ... |
ORPHA:96334 |
| Weaver Syndrome |
|
Coxa valga, Camptodactyly, Metatarsus adductus, Overlapping toe, Radial deviation of finger, Limi... |
OMIM:277590 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Respiratory insufficiency, Hyperlordosis, Flexion contracture, Muscular dystrophy, Congenital mus... |
OMIM:613156 |
| Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Death in infancy, Narrow chest, Abnormal rib morphology, Abnormal metaphysis morphology... |
ORPHA:1354 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Hand polydactyly, Abnormal verte... |
ORPHA:261197 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Knee flexion contracture, Wrist flexion contracture, Flexion contracture, Hip contracture, Lower ... |
ORPHA:1143 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Dumbbell-shaped long bone, Thoracic hypoplasia, Severe platyspondyly, Short neck, Ovoid vertebral... |
OMIM:151210 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Lack of skin elasticity, Decreased muscle mass, Joint hypermobility, Wormian bones, Congenital hi... |
OMIM:612940 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Reduced bone mineral density, Respiratory insufficiency, Conductive hear... |
ORPHA:1488 |
| Odontochondrodysplasia 1 |
|
Short phalanx of finger, Flared iliac wing, Genu recurvatum, Respiratory distress, Platyspondyly,... |
OMIM:184260 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Central apnea, Pulmonary arterial hypertension, Respiratory failure, Palmoplantar cutis laxa, Wid... |
OMIM:616482 |
| Geroderma Osteodysplastica |
|
Biconcave vertebral bodies, Hyperextensible skin, Abnormal bone ossification, Recurrent fractures... |
ORPHA:2078 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Infantile sensorineural hearing impairment, Respiratory failure, Spina... |
ORPHA:254875 |
| Kniest Dysplasia |
|
Conductive hearing impairment, Dumbbell-shaped long bone, Hip dislocation, Pectus excavatum, Shor... |
OMIM:156550 |
| Man1B1-Cdg |
|
2-3 toe syndactyly, Macrotia, Cutis laxa, Clinodactyly of the 5th finger, Joint hypermobility, Sh... |
ORPHA:397941 |
| Sprengel Deformity |
|
Neck muscle hypoplasia, Rib segmentation abnormalities, Spina bifida occulta, Cervical segmentati... |
OMIM:184400 |
| Cranioectodermal Dysplasia 4 |
|
Sagittal craniosynostosis, Decreased nasal nitric oxide, Cutis laxa, Cutaneous finger syndactyly,... |
OMIM:614378 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Distal upper limb amyotrophy, Hyperextensible skin, Distal lower limb muscle weakness, Distal low... |
OMIM:619764 |
| Arterial Tortuosity Syndrome |
|
Macrotia, Flexion contracture, Hyperextensible skin, Cutis laxa, Joint laxity, Pectus excavatum, ... |
OMIM:208050 |
| Rafiq Syndrome |
|
Macrotia, Flexion contracture, Cutis laxa, Clinodactyly of the 5th finger, Joint laxity, Joint hy... |
OMIM:614202 |
| Schwartz-Jampel Syndrome |
|
Metatarsus valgus, Wrist flexion contracture, Respiratory insufficiency, Coxa valga, Increased bo... |
ORPHA:800 |
| Hemihyperplasia, Isolated |
|
Skeletal muscle hypertrophy, Myelomeningocele, Scoliosis |
OMIM:235000 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Flexion contracture, Hyperextensible skin, Cutis laxa, Kyphoscoliosis, Skeletal muscle atrophy, J... |
ORPHA:75496 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Tapered finger, Pneumothorax, Atlantoaxial dislocation, Slender finger, Arthrogryposis multiplex ... |
ORPHA:2953 |
| Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Short neck, Widely patent coronal ... |
OMIM:228520 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Hyperlordosis, Wrist flexion contracture, Congenital finger flexion contractures, Flexion contrac... |
ORPHA:267 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormality of the elbow, Recurrent fractures, Slender long bone, Abnormal cortical bone morpholo... |
ORPHA:1486 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Distal amyotrophy, Kyphoscoliosis, Respiratory distress |
OMIM:619099 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Cutis laxa, Hip dislocation, Emphysema, Congenital diaphragmatic hernia, Arachnodactyly |
OMIM:614100 |
| Myotonia Permanens |
|
Hyperlordosis, Asthma, Limitation of joint mobility, Generalized muscle hypertrophy, Dyspnea, Ske... |
ORPHA:99735 |
| 1P36 Deletion Syndrome |
|
Delayed cranial suture closure, Camptodactyly of finger, Conductive hearing impairment, Dysphagia... |
ORPHA:1606 |
| Axial Spondylometaphyseal Dysplasia |
|
Thoracic hypoplasia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Narrow greater ... |
ORPHA:168549 |
| Kyphomelic Dysplasia |
|
Short thorax, Anterior rib cupping, Missing ribs, Flat acetabular roof, Limitation of joint mobil... |
ORPHA:1801 |
| Coffin-Lowry Syndrome |
|
Tapered finger, Pectus excavatum, Pseudoepiphyses of the metacarpals, Abnormal form of the verteb... |
ORPHA:192 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Abnormal metaphysis morphology, Narrow chest, Short neck, Abnormal clavicle morpholo... |
ORPHA:93267 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic acetabulae, Short neck, Limited elbow extension, Beaking of vertebral bodies, Abnorma... |
ORPHA:239 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
OMIM:608099 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Delayed calcaneal ossification, Hip dislocation, Short neck, Ovoid vertebral bodies, Flattened ep... |
OMIM:183900 |
| Kbg Syndrome |
|
Vertebral arch anomaly, Vertebral fusion, Macrotia, Thoracic kyphosis, Protruding ear, Clinodacty... |
OMIM:148050 |
| Myopathy And Diabetes Mellitus |
|
Sensorineural hearing impairment, Skeletal myopathy, Distal lower limb amyotrophy, Weakness of or... |
ORPHA:2596 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Wide anterior fontanel, Cutis laxa, Joint hypermobility, Inguinal hernia, Congenital hip dislocat... |
OMIM:219200 |
| De Barsy Syndrome |
|
Delayed closure of the anterior fontanelle, Decreased muscle mass, Generalized joint laxity, Coxa... |
ORPHA:2962 |
| Craniofaciofrontodigital Syndrome |
|
Pulmonary arterial hypertension, Palmoplantar cutis laxa, Finger joint hypermobility, Cutis laxa,... |
ORPHA:363705 |
| Shox-Related Short Stature |
|
Genu valgum, Lower limb undergrowth, Short neck, Ulnar radial head dislocation, Scoliosis, Cubitu... |
ORPHA:314795 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Joint contracture of the hand, Calf muscle hypertrophy, Muscular dystrophy, Achilles tendon contr... |
OMIM:608840 |
| Fibrochondrogenesis |
|
Camptodactyly of finger, Bell-shaped thorax, Respiratory insufficiency, Wide anterior fontanel, A... |
ORPHA:2021 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Delayed closure of the anterior fontanelle, Conductive hearing impairmen... |
OMIM:607872 |
| Lethal Recessive Chondrodysplasia |
|
Short long bone, Flared elbow metaphyses, Macroglossia, Generalized osteosclerosis, Respiratory d... |
ORPHA:1423 |
| Geroderma Osteodysplasticum |
|
Increased susceptibility to fractures, Biconcave vertebral bodies, Irregular vertebral endplates,... |
OMIM:231070 |
| Progeroid Syndrome, Petty Type |
|
Wide anterior fontanel, Cutis laxa, Redundant skin, Decreased skull ossification, Low-set, poster... |
ORPHA:2963 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Skeletal muscle hypertrophy, Hearing impairment, Skeletal muscle atrophy, Scoliosis |
ORPHA:101082 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Myopathy, Apneic episodes precipitated by illness, fatigue, stress, Type 2 ... |
OMIM:605809 |
| Odontochondrodysplasia |
|
Coxa valga, Abnormal metaphysis morphology, Death in infancy, Respiratory distress, Scoliosis, Jo... |
ORPHA:166272 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Type 2 muscle fib... |
OMIM:254210 |
| Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Toe syndactyly, Elbow dislocation, Pectus excavatum, Short neck, Hearing... |
ORPHA:1507 |
| Cutis Laxa-Marfanoid Syndrome |
|
Flexion contracture, Hip dislocation, Limitation of joint mobility, Emphysema, Congenital diaphra... |
ORPHA:171719 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Triphalangeal thumb, Respiratory insufficiency, Preaxial hand polydactyly, Death in infancy, Spin... |
ORPHA:1120 |
| Macs Syndrome |
|
Hyperextensible skin, Cutis laxa, Bronchiectasis, Joint laxity, Joint hypermobility, Pectus excav... |
OMIM:613075 |
| Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Coxa valga, Lumbar kyphosis, Short neck, Ovoid... |
OMIM:253000 |
| Osteogenesis Imperfecta |
|
Flexion contracture, Thoracic hypoplasia, Pectus excavatum, Dislocated radial head, Dysphagia, Ab... |
ORPHA:666 |
| Spondylometaphyseal Dysplasia, Axial |
|
Anterior rib cupping, Coxa vara, Short femoral neck, Thoracic hypoplasia, Proximal femoral metaph... |
OMIM:602271 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Hyperlordosis, Vertebral fusion, Respiratory failure, Kyphosis, Calf muscle hypertrophy, Achilles... |
OMIM:606612 |
| Rin2 Syndrome |
|
Increased susceptibility to fractures, Abnormal sternum morphology, Hyperextensible skin, Joint h... |
ORPHA:217335 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Delayed cranial suture closure, Respiratory distress, Short neck, Dyspnea, Respiratory failure, L... |
ORPHA:1832 |
| Phaver Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Conductive hearing impairment, Myelomeningocele, Ap... |
ORPHA:2876 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Hyperlordosis, Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Muscular ... |
OMIM:613157 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metatarsal, Genu valgum, Upper limb undergrowth, Abnormal carpal morphology, Coxa vara, Sho... |
ORPHA:93351 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Skeletal muscle hypertrophy, Hearing impairment, Scoliosis, Kyphosis |
ORPHA:99014 |
| C Syndrome |
|
Short metacarpal, Cutis laxa, Toe syndactyly, Clinodactyly, Hip dislocation, Ulnar deviation of f... |
OMIM:211750 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Delayed cranial suture closure, Humeroradial synostosis, Elbow flexion contracture, Spina bifida ... |
OMIM:151050 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory insufficiency, Increased variability in muscle fiber diameter, Skeletal muscle atroph... |
ORPHA:238329 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Irregular vertebral endplates, Sensorineural hearing impairment, Short fo... |
OMIM:609616 |
| Osteogenesis Imperfecta, Type X |
|
Thin bony cortex, Thoracic hypoplasia, Short femur, Fibular bowing, Genu valgum, Generalized join... |
OMIM:613848 |
| Leri-Weill Dyschondrosteosis |
|
Short tibia, Coxa valga, Abnormal carpal morphology, Short 4th metacarpal, Increased carrying ang... |
OMIM:127300 |
| Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Hyperextensible skin, Generalized joint laxity, Recurrent sinusitis, Joint hypermobility, Congeni... |
OMIM:130010 |
| Mosaic Trisomy 14 |
|
Camptodactyly of finger, Microtia, Narrow chest, Short neck, Low-set, posteriorly rotated ears, A... |
ORPHA:1703 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Congenital knee dislocation, Increased susceptibility to fractures, Delayed closure of the anteri... |
OMIM:130060 |
| Congenital Myasthenic Syndrome |
|
Limb-girdle muscle weakness, Muscle fiber atrophy, Choking episodes, Dysphagia, Distal amyotrophy... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Limb-girdle muscle weakness, Muscle fiber atrophy, Choking episodes, Dysphagia, Distal amyotrophy... |
ORPHA:98914 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Craniofacial hyperostosis, Facial diplegia, Craniofacial osteosclerosis, Diaphyse... |
OMIM:122860 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Dumbbell-shaped humerus, Vertebral segmentation defect, Synostosis of ca... |
ORPHA:1836 |
| Diaphanospondylodysostosis |
|
Respiratory insufficiency, Absent in utero ossification of vertebral bodies, Unossified sacrum, B... |
OMIM:608022 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Macrotia, Tapered finger, Sensorineural hearing impairment, Tapered toe, Asthma, C... |
ORPHA:544488 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Macrotia, Joint dislocation, Clinodactyly, Respiratory distress, Scoliosis |
OMIM:300934 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Supernumerary vertebrae, Block vertebrae, Short ribs, Missing ribs, Inguinal he... |
OMIM:271520 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hyperlordosis, Abnormal muscle fiber morphology, Craniofacial hyperostosis, Clinodactyly of the 5... |
ORPHA:3068 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Abnormal elasticity of skin, Increased variability in muscle fiber diameter, Multiple joint contr... |
ORPHA:486815 |
| Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Umbilical hernia, Hyperextensible skin, Abnormality of the cervical spin... |
ORPHA:915 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Aplasia/Hypoplasia of fingers, Respiratory distress, Upper airway obstructi... |
ORPHA:141152 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Delayed cranial suture closure, Cutis laxa, Premature skin wrinkling, Hip dislocation, Wormian bo... |
OMIM:616603 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Horizontal ribs, Respiratory failure, Thoracic hypoplasia, Hypoplastic ilia, Short ribs, Hypoplas... |
OMIM:617895 |
| Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Preaxial hand polydactyly, Kyphosis, Microtia, Hypoplastic pubic rami, Abnormal th... |
ORPHA:280 |
| Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Conductive hearing impairment, Craniofacial hyperostosis, Diaphyseal thi... |
ORPHA:1513 |
| 6P22 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Redundant skin, Short neck, Overfolded helix, Low-set ears, Hear... |
ORPHA:251046 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Shoulder dislocation, Hallux valgus, Hip dislocation, Elbow dislocation, Pectus excavatum, Knee d... |
ORPHA:536532 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory insufficiency, Hallux valgus, Multiple joint contractures, Atlantoaxial dislocation, ... |
ORPHA:536467 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Cutis laxa, Joint laxity, Pectus excavatum, Emphysema, Congenital diaphragmatic hernia, Inguinal ... |
OMIM:219100 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Conductive hearing impairment, Camptodactyly, Metatarsus adductus, Dislocated radial head, Pectus... |
OMIM:182212 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Short phalanx of finger, Thoracic hypoplasia, Short neck, Postaxial hand polydactyly, Prominent m... |
OMIM:266920 |
| Jeune Syndrome |
|
Respiratory insufficiency, Abnormal sternum morphology, Short thorax, Toe syndactyly, Narrow ches... |
ORPHA:474 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Kyphoscoliosis, Joint contracture, Respiratory distress |
OMIM:617977 |
| Achondroplasia |
|
Conductive hearing impairment, Spinal stenosis with reduced interpedicular distance, Severe platy... |
OMIM:100800 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Metaphyseal cupping of proximal phalanges, Lumbar hyperlordosis,... |
ORPHA:174 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Short phalanx of finger, Short toe, Delayed closure of the anterior fontanelle, Hyperextensible s... |
OMIM:225410 |
| Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Redundant skin, Increased number of skin folds, Cutis laxa |
ORPHA:436274 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Hyperextensible skin, Sensorineural hearing impairment, Joint hypermobility, Kyphoscoliosis, Myop... |
ORPHA:300179 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Pectus excavatum, ... |
OMIM:607778 |
| Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Joint dislocation, Hyperextensible skin, Joint hypermobility, Inguinal hernia, Scoliosis, Umbilic... |
OMIM:617174 |
| Thanatophoric Dysplasia, Type Ii |
|
Respiratory insufficiency, Metaphyseal irregularity, Hypoplastic ilia, Short ribs, Brachydactyly,... |
OMIM:187601 |
| Baller-Gerold Syndrome |
|
Absent thumb, Conductive hearing impairment, Aplasia of metacarpal bones, Short humerus, Aphalang... |
OMIM:218600 |
| Melnick-Needles Syndrome |
|
Delayed cranial suture closure, Osteolytic defects of the phalanges of the hand, Respiratory insu... |
ORPHA:2484 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short phalanx of finger, Flared iliac wing, Irregular tarsal bones, Short neck, Narrow greater sc... |
OMIM:250220 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Hyperlordosis, Muscle fiber splitting, Increased variability in muscle fiber diameter, Centrally ... |
OMIM:617760 |
| Cardiospondylocarpofacial Syndrome |
|
Fusion of middle ear ossicles, Conductive hearing impairment, Pseudoepiphyses, Enlarged vestibula... |
OMIM:157800 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Horizontal ribs, Short ribs, Narrow chest, Death in infancy, Postaxial foot polydactyly, Lateral ... |
OMIM:617405 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Flexion contracture, Flared iliac wing, Short neck, Flattened epiphysis, Peg-like central promine... |
OMIM:300232 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Redundant skin, Neonatal death |
OMIM:301021 |
| Ogden Syndrome |
|
Delayed cranial suture closure, Macrotia, Cutis laxa, Torticollis, Broad hallux, Inguinal hernia,... |
ORPHA:276432 |
| Osteogenesis Imperfecta, Type Iii |
|
Pulmonary arterial hypertension, Protrusio acetabuli, Biconcave vertebral bodies, Bowing of limbs... |
OMIM:259420 |
| Pallister-Hall Syndrome |
|
Atresia of the external auditory canal, Mesoaxial foot polydactyly, Neonatal death, Short 4th met... |
OMIM:146510 |
| Septopreoptic Holoprosencephaly |
|
Ethmoidal encephalocele, Abnormal vertebral morphology, Impulsivity, Dysphagia, Abnormal rib morp... |
ORPHA:280195 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Abnormality of the knee, Hypoventilat... |
ORPHA:98915 |
| Osteogenesis Imperfecta, Type Ix |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphosis, Short lower limbs, Pect... |
OMIM:259440 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal antihelix morphology, Metatarsus valgus, Conductive hearing impairment, Kyphosis, Aplasi... |
ORPHA:3082 |
| Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Scoliosis, Cutis laxa |
OMIM:614434 |
| Muscle Hypertrophy |
|
Skeletal muscle hypertrophy |
OMIM:614160 |
| Tetrasomy 5P |
|
Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdominal wall musculature, Wide anter... |
ORPHA:3309 |
| Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Skeletal muscle hypertrophy, Myopathy, Macroglossia, Umbilical hernia |
ORPHA:2349 |
| Meier-Gorlin Syndrome 1 |
|
Flexion contracture, Coxa valga, Osteochondritis dissecans, Camptodactyly, Elbow dislocation, Abs... |
OMIM:224690 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Plantar flexion contracture, Distal arthrogryposis, Wrist drop, Diaphragmatic eventration, Parado... |
OMIM:620011 |
| Femoral-Facial Syndrome |
|
Hypoplastic acetabulae, Humeroradial synostosis, Toe syndactyly, Aplasia/hypoplasia of the femur,... |
OMIM:134780 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Generalized amyotrophy, Respiratory distress, Pallor, Dysphagia, Ragged-red muscle fibers, Respir... |
OMIM:613561 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Death in infancy, Respiratory distress, Joint hypermo... |
OMIM:300219 |
| Campomelic Dysplasia |
|
Short phalanx of finger, Conductive hearing impairment, Spinal dysraphism, Hallux valgus, Thoraci... |
OMIM:114290 |
| Occipital Horn Syndrome |
|
Coxa valga, Short humerus, Pelvic bone exostoses, Pectus excavatum, Limited elbow extension, Genu... |
OMIM:304150 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Conductive hearing impairment, Sensorineural hearing impairment, Abnormal vertebral segmentation ... |
OMIM:118100 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Type 1 fibers relatively smaller than type 2 fibers, Respiratory distress, Myopathy, Frontalis mu... |
OMIM:300580 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Quadriceps muscle atrophy... |
ORPHA:206549 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral junction, Metaphyseal dysplasia... |
OMIM:271650 |
| White Forelock With Malformations |
|
Finger syndactyly, Clinodactyly of the 5th finger, Spina bifida occulta, Sprengel anomaly, Joint ... |
ORPHA:2475 |
| Rippling Muscle Disease 2 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy |
OMIM:606072 |
| Cog1-Cdg |
|
Pulmonary arterial hypertension, Coxa valga, Microtia, Short long bone, Vertebral segmentation de... |
ORPHA:263508 |
| Severe Congenital Nemaline Myopathy |
|
Flexion contracture, Facial palsy, Abnormal thorax morphology, Type 1 muscle fiber predominance, ... |
ORPHA:171430 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ventilator dependence with inability to wean, Macroglossia, Respiratory distress, Myopathy, Incre... |
ORPHA:254864 |
| Gapo Syndrome |
|
Delayed cranial suture closure, Bell-shaped thorax, Delayed closure of the anterior fontanelle, W... |
OMIM:230740 |
| Pseudoachondroplasia |
|
Short phalanx of finger, Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extensio... |
OMIM:177170 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress, Limitation of joint mobility |
ORPHA:2680 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Hyperlordosis, Genu valgum, Metaphyseal irregularity, Anterior rib cupping, Coxa vara, Hypoplasti... |
OMIM:184250 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Flexion contracture, Decreased muscle mass, Generalized amyotrophy, Respiratory distress, Pectus ... |
OMIM:271225 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Cutis laxa, Ankle clonus, Head titubation, Protruding ear |
OMIM:619691 |
| 3M Syndrome |
|
Horizontal ribs, Enlarged thorax, Short neck, Scapular winging, Abnormal metaphysis morphology, R... |
ORPHA:2616 |
| Shprintzen-Goldberg Syndrome |
|
Camptodactyly of finger, Conductive hearing impairment, Elbow dislocation, Pectus excavatum, Abno... |
ORPHA:2462 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Kyphosis, Fused cervical vertebrae, Pectus excavatum, Short neck, Abnormal clavicl... |
ORPHA:2522 |
| Muscular Hypertonia, Lethal |
|
Pneumonia, Respiratory distress, Umbilical hernia, Death in infancy |
OMIM:254120 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Respiratory insufficiency, Limb-girdle muscle weakness, Centrally nucleated skeletal muscle fiber... |
OMIM:255160 |
| Pleural Mesothelioma |
|
Abnormal thorax morphology, Abnormal respiratory system physiology, Respiratory distress, Pleural... |
ORPHA:50251 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Broad femoral neck, Flexion contracture, Tapered finger, Short femoral neck, Hyperextensible skin... |
ORPHA:157965 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Death in infancy, Respiratory distress, Scoliosis, Neonatal respiratory distress, Congenital cont... |
OMIM:615042 |
| Aldh18A1-Related De Barsy Syndrome |
|
Hyperextensible skin, Joint hyperflexibility |
ORPHA:35664 |
| Bohring-Opitz Syndrome |
|
Sacral dimple, Short toe, Joint dislocation, Flexion contracture, Tapered finger, Cutis laxa, Uln... |
OMIM:605039 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Respiratory insufficiency, Bell-shaped thorax, Joint dislocation, Abnormality of the elbow, Short... |
ORPHA:1842 |
| Acromesomelic Dysplasia 1 |
|
Short phalanx of finger, Ovoid vertebral bodies, Limited elbow extension, Beaking of vertebral bo... |
OMIM:602875 |
| Grant Syndrome |
|
Joint dislocation, Narrow chest, Abnormal cortical bone morphology, Abnormal pelvic girdle bone m... |
ORPHA:2097 |
| Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Coxa valga, Constricted iliac wing, Ovoid vert... |
OMIM:253010 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Flexion contracture, Cutis laxa, Dermal translucency, Elbow flexion contracture, Hip dislocation,... |
OMIM:614438 |
| Schneckenbecken Dysplasia |
|
Metaphyseal irregularity, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Anter... |
OMIM:269250 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Horizontal ribs, Bell-shaped thorax, Abnormal posturing, Pulmonary arterial hypertension, Inguina... |
OMIM:614857 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Conductive hearing impairment, Hyperextensible skin, Cutis laxa, Type 1 muscle fiber predominance... |
OMIM:614557 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Metaphyseal irregularity, Irregular vertebral endplates, Tapered finger, Patellar dislocation, Sh... |
OMIM:618395 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory insufficiency, Ankle clonus, Sensorineural hearing impairment, Kyphosis, Hand muscle ... |
OMIM:211530 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Hyperextensibility at wrists, Flexion contracture, Tapered finger, Sensorineural hearing impairme... |
ORPHA:544503 |
| Spondylo-Ocular Syndrome |
|
Abnormal antihelix morphology, Hyperextensible skin, Thoracic kyphosis, Osteoporosis, Abnormal in... |
ORPHA:85194 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Metaphyseal cupping, Severe platyspondyly, Coxa vara, Short metacarpal,... |
OMIM:608940 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Hypoplastic pubic bone, Thoracic hypoplasia, Short long bone, Flat acetabu... |
OMIM:608728 |
| Renpenning Syndrome |
|
Macrotia, Round ear, Sensorineural hearing impairment, Clinodactyly of the 5th finger, Abnormal t... |
ORPHA:3242 |
| Rahman Syndrome |
|
Redundant skin, Kyphoscoliosis, Camptodactyly |
OMIM:617537 |
| Periodontal Ehlers-Danlos Syndrome |
|
Hyperextensible skin, Joint hyperflexibility |
ORPHA:75392 |
| Dyggve-Melchior-Clausen Disease |
|
Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Narrow greater sciati... |
OMIM:223800 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Microtia, Vertebral segmentation defect, Missing ribs, Abnormal pelvic g... |
ORPHA:1834 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Delayed closure of the anterior fontanelle, Decreased muscle mass, Generalized joint laxity, Cuti... |
ORPHA:357074 |
| Dysosteosclerosis |
|
Short diaphyses, Delayed closure of the anterior fontanelle, Sclerotic scapulae, Hypoplastic vert... |
OMIM:224300 |
| Zttk Syndrome |
|
Flexion contracture, Hyperextensible skin, Small hand, Kyphosis, Cervical ribs, Joint hypermobili... |
OMIM:617140 |
| Rippling Muscle Disease 1 |
|
Skeletal muscle hypertrophy |
OMIM:600332 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short phalanx of finger, Short metatarsal, Short thorax, Short metacarpal, Angel-shaped phalanx, ... |
OMIM:617102 |
| Gaucher Disease Type 2 |
|
Flexion contracture, Respiratory distress, Abnormal pattern of respiration, Cough, Dysphagia |
ORPHA:77260 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Fractured radius, Thoracic hypoplasia, Short ribs, Multiple rib fractures, P... |
OMIM:616897 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Low-set ears, Cutis laxa |
OMIM:301045 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Congenital muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Macroglossia, Calf muscle... |
ORPHA:370959 |
| Achondrogenesis Type 1B |
|
Short thorax, Abnormal enchondral ossification, Narrow chest, Short neck, Abnormal rib morphology... |
ORPHA:93298 |
| Shwachman-Diamond Syndrome 1 |
|
Irregular ossification at anterior rib ends, Anterior rib cupping, Enlargement of the costochondr... |
OMIM:260400 |
| Wrinkly Skin Syndrome |
|
Delayed cranial suture closure, Delayed closure of the anterior fontanelle, Palmoplantar cutis la... |
OMIM:278250 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Hip subluxation, Patellar dislocation, Muscle fiber atrophy, Elbow flexion contracture, Hip dislo... |
ORPHA:1900 |
| Juberg-Hayward Syndrome |
|
Abnormality of the elbow, Abnormal finger morphology, Toe syndactyly, Hypoplasia of the radius, A... |
ORPHA:2319 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, Scoliosis, Sandal gap, Brachydactyly, Abnormal rib morphology, Low-set ears, He... |
ORPHA:2180 |
| Mohr-Tranebjaerg Syndrome |
|
Increased susceptibility to fractures, Postlingual sensorineural hearing impairment, Abnormal pos... |
OMIM:304700 |
| Ogden Syndrome |
|
Delayed cranial suture closure, Metatarsus valgus, Redundant neck skin, Pectus excavatum, Broad h... |
OMIM:300855 |
| Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Finger syndactyly, Kyphosis, Abnormality of the humerus, Abnor... |
ORPHA:392 |
| Autosomal Dominant Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Abnormality of the foot musculature, Calf muscle hype... |
ORPHA:169189 |
| Thoracolaryngopelvic Dysplasia |
|
Horizontal ribs, Hypoplastic iliac wing, Bell-shaped thorax, Irregular vertebral endplates, Irreg... |
OMIM:187760 |
| Pelviscapular Dysplasia |
|
Hypoplastic ilia, Humeroradial synostosis, Elbow flexion contracture, Redundant neck skin, Short ... |
ORPHA:93333 |
| Cartilage-Hair Hypoplasia |
|
Respiratory insufficiency, Spinal dysraphism, Abnormal distal phalanx morphology of finger, Short... |
ORPHA:175 |
| Alg8-Cdg |
|
Cutis laxa, Premature skin wrinkling, Camptodactyly, Macroglossia, Brachydactyly, Low-set ears |
ORPHA:79325 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Sensorineural hearing impairment, Vertebral hypoplasia, Supernumerary ribs, Mis... |
OMIM:206900 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Flared, irregular rib ends, Coxa vara, Limitation of joint mobility, Platyspondyly, Short palm |
ORPHA:168555 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Delayed cranial suture closure, Flexion contracture, Respiratory distress, Overlapping toe, Atten... |
OMIM:619383 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Camptodactyly of finger, Short phalanx of finger, Broad femoral neck, Irregular vertebral endplat... |
OMIM:612350 |
| Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Genu valgum, Joint dislocation, Coxa valga, Short thorax, Kyphosis, Pectus carinat... |
ORPHA:582 |
| Myhre Syndrome |
|
Respiratory insufficiency, 2-3 toe syndactyly, Camptodactyly, Overlapping toe, Short neck, Radial... |
OMIM:139210 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Generalized bone demineralization, Decreased muscle mass, Short 5th finger, Abnormal bone ossific... |
ORPHA:73230 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Horizontal ribs, Bell-shaped thorax, Respiratory insufficiency, Short long bone, Thoracic dysplas... |
OMIM:615633 |
| Cleidocranial Dysplasia |
|
Tapered finger, Hypoplastic inferior ilia, Spina bifida occulta, Abnormal rib morphology, Hearing... |
ORPHA:1452 |
| Fibrochondrogenesis 2 |
|
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ilia, Thoracic hypop... |
OMIM:614524 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Wrist flexion contracture, Coat hanger sign of ribs, Flexion contracture, Diastasis recti, Thorac... |
ORPHA:254528 |
| Moebius Syndrome |
|
Short phalanx of finger, Dysphagia, Aplasia/Hypoplasia involving the metacarpal bones, Clinodacty... |
OMIM:157900 |
| Menkes Disease |
|
Cutis laxa, Joint laxity, Osteoporosis, Metaphyseal widening, Death in childhood, Metaphyseal spu... |
OMIM:309400 |
| Acro-Renal-Mandibular Syndrome |
|
Pectus carinatum, Finger syndactyly, Kyphosis, Hypoplasia of the radius, Butterfly vertebrae, Hip... |
ORPHA:958 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Muscular dystrophy, Skeletal muscle hypertrophy |
OMIM:613158 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology, Vertebral segmentation defect, Short neck, Hearing impairment |
ORPHA:2578 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Vertebral hypoplasia, Stippling of the epiphyses of the distal phalanges of the hand, Epiphyseal ... |
ORPHA:79345 |
| Robinow Syndrome |
|
Bifid distal phalanx of the thumb, Radioulnar dislocation, Missing ribs, Syndactyly, Kyphoscolios... |
ORPHA:97360 |
| Elastosis Perforans Serpiginosa |
|
Cutis laxa |
ORPHA:79148 |
| Mucopolysaccharidosis, Type Iiia |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Hyperactivity, Dense calvaria, Inguinal hernia, Sc... |
OMIM:252900 |
| Myhre Syndrome |
|
Large iliac wing, Craniofacial hyperostosis, Joint stiffness, Brachydactyly, Inguinal hernia, Ske... |
ORPHA:2588 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Delayed cranial suture closure, Increased bone mineral density, Abnormal metaphysis morphology, O... |
ORPHA:2658 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Wide anterior fontanel, Clinodactyly, Respiratory distress, Redundant neck skin, Syndactyly, Shor... |
OMIM:217980 |
| Auriculocondylar Syndrome 2 |
|
Hypoplastic superior helix, Cleft at the superior portion of the pinna, Overfolding of the superi... |
OMIM:614669 |
| Bardet-Biedl Syndrome 16 |
|
Polydactyly, Hearing impairment, Respiratory distress |
OMIM:615993 |
| Fountain Syndrome |
|
Hyperextensible skin, Sensorineural hearing impairment, Kyphosis, Spina bifida, Abnormal metacarp... |
ORPHA:3219 |
| Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Elbow flexion contracture, Hypopl... |
OMIM:305620 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Camptodactyly of finger, Conductive hearing impairment, Tapered finger, Finger syndactyly, Kyphos... |
ORPHA:2215 |
| Greenberg Dysplasia |
|
Short phalanx of finger, Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Tetr... |
OMIM:215140 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Postaxial hand polydactyly, Hyperextensible skin |
OMIM:615937 |
| Mucopolysaccharidosis, Type Vi |
|
Hypoplastic acetabulae, Flexion contracture, Flared iliac wing, Anterior wedging of L2, Ovoid ver... |
OMIM:253200 |
| Wolf-Hirschhorn Syndrome |
|
Conductive hearing impairment, Hip dislocation, Metatarsus adductus, Short hallux, Abnormal stern... |
OMIM:194190 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Recurrent shoulder dislocation, Hallux valgus, Pectus excavatum, Genu recurvatum, Genu valgum, Hy... |
ORPHA:230851 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Bell-shaped thorax, Respiratory insufficiency, Thoracic hypoplasia, Recurren... |
OMIM:166210 |
| Thanatophoric Dysplasia, Type I |
|
Metaphyseal irregularity, Thoracic hypoplasia, Severe platyspondyly, Hypoplastic ilia, Short ribs... |
OMIM:187600 |
| Wrinkly Skin Syndrome |
|
Delayed closure of the anterior fontanelle, Decreased muscle mass, Generalized joint laxity, Slen... |
ORPHA:2834 |
| Multiple Pterygium Syndrome, X-Linked |
|
Increased susceptibility to fractures, Vertebral fusion, Joint dislocation, Flexion contracture, ... |
OMIM:312150 |
| Osteogenesis Imperfecta, Type Viii |
|
Femoral retroversion, Multiple prenatal fractures, Recurrent fractures, Platyspondyly, Wormian bo... |
OMIM:610915 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal rib morphology, Low-set ears, Abnormal clavicle morphology |
ORPHA:276422 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteolytic defects of the phalanges of the hand, Arthropathy, Arthritis, Limitation of joint mobi... |
OMIM:259100 |
| Bronchopulmonary Dysplasia |
|
Tracheobronchomalacia, Hyperoxemia, Abnormal respiratory system physiology, Respiratory distress,... |
ORPHA:70589 |
| Costello Syndrome |
|
Lack of skin elasticity, Thickened Achilles tendon, Ulnar deviation of finger, Macroglossia, Larg... |
ORPHA:3071 |
| Dystonia 31 |
|
Abnormal posturing, Dysphagia |
OMIM:619565 |
| Achondrogenesis, Type Ia |
|
Unossified vertebral bodies, Abnormal hand bone ossification, Short neck, Beaded ribs, Hypoplasti... |
OMIM:200600 |
| Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Redundant skin, Cutis laxa |
ORPHA:91135 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperlordosis, Increased variability in muscle fiber diameter, Flexion contracture, Centrally nuc... |
OMIM:613327 |
| Leri Pleonosteosis |
|
Camptodactyly of finger, Lack of skin elasticity, Abnormal finger morphology, Abnormal metacarpal... |
ORPHA:2900 |
| Renal Hypodysplasia/Aplasia 2 |
|
Redundant skin |
OMIM:615721 |
| Cranioectodermal Dysplasia 2 |
|
Horizontal ribs, Polydactyly, Cutis laxa, Short ribs, Narrow chest, Clinodactyly, Left ventricula... |
OMIM:613610 |
| Craniometadiaphyseal Dysplasia |
|
Genu varum, Genu valgum, Coxa valga, Wide anterior fontanel, Sclerosis of skull base, Flared meta... |
OMIM:269300 |
| Poland Syndrome |
|
Spina bifida occulta, Short neck, Abnormal rib morphology, Absent hand, Reduced bone mineral dens... |
ORPHA:2911 |
| Autosomal Dominant Cutis Laxa |
|
Delayed cranial suture closure, Bronchiectasis, Hip dislocation, Redundant neck skin, Increased n... |
ORPHA:90348 |
| Achondrogenesis Type 1A |
|
Short thorax, Recurrent fractures, Short foot, Abnormal enchondral ossification, Multiple rib fra... |
ORPHA:93299 |
| Recombinant 8 Syndrome |
|
Camptodactyly of finger, Abnormal sternum morphology, Patellar aplasia, Clinodactyly of the 5th f... |
ORPHA:96167 |
| Neonatal Marfan Syndrome |
|
Enlarged thorax, Flexion contracture, Cutis laxa, Crumpled ear, Hypoxemia, Joint hypermobility, A... |
ORPHA:284979 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Morgagni diaphragmatic hernia, Death in infancy, Cutis laxa, Joint laxity, Emphysema, Inguinal he... |
OMIM:613177 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| X-Linked Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... |
ORPHA:596 |
| Cleidocranial Dysplasia 1 |
|
Short middle phalanx of the 2nd finger, Increased bone mineral density, Hip dislocation, Cervical... |
OMIM:119600 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Abnormality of the humeroulnar joint, Hemivertebrae, Abnorma... |
ORPHA:2234 |
| Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Abnormality of the ischium, Hypoplastic ilia, Short ribs, Wide anterior fon... |
ORPHA:2347 |
| Granulomatous Slack Skin |
|
Erythema, Redundant skin, Cutis laxa |
ORPHA:33111 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Thin bony cortex, Vertebral arch anomaly, Broad femoral neck, Coxa valga, Short tubular bones of ... |
ORPHA:85184 |
| Arterial Tortuosity Syndrome |
|
Macrotia, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Hyperextens... |
ORPHA:3342 |
| Diamond-Blackfan Anemia 10 |
|
Conductive hearing impairment, Morgagni diaphragmatic hernia, Microtia, Supernumerary ribs, Respi... |
OMIM:613309 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Low-set ears, Dry skin, Cutis laxa, Dysphagia |
OMIM:612379 |
| Hyperparathyroidism, Transient Neonatal |
|
Recurrent fractures, Short ribs, Short long bone, Respiratory distress, Short femur, Femoral bowi... |
OMIM:618188 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Genu valgum, Conductive hearing impairment, Joint dislocation, Avascular necrosis of the capital ... |
ORPHA:502 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology, Slender long bone, Low-set, posteriorly rotated ears, Abnormal pelvic gi... |
ORPHA:1506 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Hypoplastic iliac wing, Metaphyseal cupping, Metaphyseal cupping of proximal ph... |
OMIM:300863 |
| Three M Syndrome 2 |
|
Hyperlordosis, Short thorax, Short 5th finger, Lumbar hyperlordosis, Slender long bone, Clinodact... |
OMIM:612921 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Increased susceptibility to fractures, Vertebral fusion, Joint dislocation, Flexion contracture, ... |
OMIM:253290 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Hip subluxation, Coxa valga, Pectus excavatum, Scapular winging, Hearing impairment, Avascular ne... |
OMIM:150230 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Myopathy, Respiratory distress |
ORPHA:26792 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Calf muscle hypertrophy, Nocturnal hypoventilation, Ac... |
OMIM:607155 |
| Mucopolysaccharidosis Type 6 |
|
Genu valgum, Kyphosis, Macroglossia, Epiphyseal dysplasia, Short neck, Ovoid vertebral bodies, Si... |
ORPHA:583 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Schinzel-Giedion Syndrome |
|
Infantile sensorineural hearing impairment, Abnormal thorax morphology, Camptodactyly, Overlappin... |
ORPHA:798 |
| Cenani-Lenz Syndrome |
|
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplasia of the radius, Synostosis of car... |
ORPHA:3258 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteomyelitis, Fused cervical vertebrae, Respiratory distress, Osteolysis, Periostitis, Joint swe... |
OMIM:612852 |
| Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, External ear malformation, Inguinal hernia, Redundant skin, Joint hyperflexibi... |
ORPHA:1252 |
| Dysmorphism-Cleft Palate-Loose Skin Syndrome |
|
Redundant skin |
ORPHA:1779 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip subluxation, Flexion contracture, Advanced ossification of carpal bones, Coxa valga, Hallux v... |
OMIM:271640 |
| Arthrochalasia Ehlers-Danlos Syndrome |
|
Joint dislocation, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Hy... |
ORPHA:1899 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
2-3 toe syndactyly, Clinodactyly of the 5th finger, Redundant neck skin, Hydranencephaly, Cutaneo... |
OMIM:236500 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Pulmonary arterial hypertension, Abnormal sternum morphology, Short ribs, Respiratory distress, R... |
ORPHA:2519 |
| Mosaic Trisomy 8 |
|
Camptodactyly of finger, Abnormal antihelix morphology, Macrotia, Patellar aplasia, Narrow chest,... |
ORPHA:96061 |
| Vacterl/Vater Association |
|
Omphalocele, Preaxial hand polydactyly, Finger syndactyly, Vertebral segmentation defect, Anencep... |
ORPHA:887 |
| Radio-Renal Syndrome |
|
Respiratory failure, Abnormality of the elbow, Hypoplasia of the radius, Respiratory distress, Pl... |
ORPHA:3015 |
| Hypophosphatasia |
|
Respiratory insufficiency, Recurrent fractures, Narrow chest, Emphysema, Abnormal rib morphology,... |
ORPHA:436 |
| Cardiofaciocutaneous Syndrome |
|
Genu valgum, Macrotia, Hyperextensible skin, Pectus excavatum, Abnormal morphology of ulna, Redun... |
ORPHA:1340 |
| Congenital Diaphragmatic Hernia |
|
Prominent sternum, Aplasia/Hypoplasia of the diaphragm, Hypoxemia, Respiratory distress, Congenit... |
ORPHA:2140 |
| Coffin-Lowry Syndrome |
|
Delayed closure of the anterior fontanelle, Sensorineural hearing impairment, Tapered finger, Kyp... |
OMIM:303600 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Thoracic hypoplasia, Recurrent aspiration pneumonia, Early ossification of capital f... |
ORPHA:397715 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Left ventricular noncompaction |
OMIM:613642 |
| Emanuel Syndrome |
|
Sacral dimple, Macrotia, Multiple joint contractures, Supernumerary ribs, Redundant neck skin, Co... |
ORPHA:96170 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Hyperlordosis, Abnormal posturing, Multiple joint contractures, Kyphosis, Torticollis, Scoliosis,... |
OMIM:128100 |
| Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Respiratory insufficiency, Metaphyseal rarefaction, Elbow f... |
OMIM:601559 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Joint hyperflexibility, Decreased calvarial ossification, Abnormal rib morph... |
ORPHA:2772 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Neuromuscular dysphagia, Axial muscle stiffness, Respiratory distress |
ORPHA:240085 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Conductive hearing impairment, Flat glenoid fossa, Short palm, Lumbar hyperlordosis, Genu valgum,... |
OMIM:250420 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy, Sensorineural hearing impairment, Respiratory distress, Death in in... |
OMIM:616974 |
| Cat-Eye Syndrome |
|
Abnormal rib morphology, Hip dysplasia, Hearing impairment |
ORPHA:195 |
| Elastoderma |
|
Premature skin wrinkling, Cutis laxa |
ORPHA:228240 |
| Kagami-Ogata Syndrome |
|
Pulmonary arterial hypertension, Bell-shaped thorax, Flexion contracture, Coxa valga, Diastasis r... |
OMIM:608149 |
| Opsismodysplasia |
|
Short phalanx of finger, Respiratory insufficiency, Severe platyspondyly, Hypoplastic vertebral b... |
OMIM:258480 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Delayed cranial suture closure, Lack of skin elasticity, Respiratory insufficiency, Pneumothorax,... |
ORPHA:90349 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral hypoplasia, Corner fracture of metaphysis, Short neck, Ovoid vertebral bodies, Posterio... |
ORPHA:93315 |
| Kagami-Ogata Syndrome |
|
Coat hanger sign of ribs, Bell-shaped thorax, Diastasis recti, Coxa valga, Thoracic hypoplasia, M... |
ORPHA:254519 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Macroglossia, Respiratory distress, Absent ossification of capital femoral epiphysis, Abnormal ep... |
ORPHA:226313 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Increased variability in muscle fiber diameter, Encephalocele, Death in infancy, Spinal rigidity,... |
OMIM:613150 |
| Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Increased bone mineral density, Flared iliac wing, Elbow dislocation, Sh... |
ORPHA:90652 |
| Pallister-Hall Syndrome |
|
Respiratory insufficiency, Short 4th metacarpal, Toe syndactyly, Hip dislocation, Overlapping toe... |
ORPHA:672 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Skeletal muscle hypertrophy, Miscarriage |
OMIM:613877 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Inspiratory stridor, Skeletal muscle hypertrophy |
OMIM:168300 |
| Immunodeficiency 95 |
|
Respiratory failure, Respiratory distress, Recurrent viral pneumonia |
OMIM:619773 |
| Prune Belly Syndrome |
|
Vertebral segmentation defect, Pectus excavatum, Congenital hip dislocation, Scoliosis, Aplasia o... |
ORPHA:2970 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Sagittal craniosynostosis, Absent thumb, Dysphagia, Slender long bone, Hyperextensibility at elbo... |
ORPHA:500150 |
| Aspergillosis |
|
Osteomyelitis, Abnormal long bone morphology, Bronchiectasis, Asthma, Chronic pulmonary obstructi... |
ORPHA:1163 |
| Hyperkalemic Periodic Paralysis |
|
Respiratory insufficiency, Flexion contracture, Death in infancy, Myopathy, Skeletal muscle atrop... |
ORPHA:682 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal antihelix morphology, Finger syndactyly, Microtia, Split hand, Brachydactyly, Abnormal r... |
ORPHA:2145 |
| Amyloidosis, Finnish Type |
|
Cutis laxa |
OMIM:105120 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Irregular sclerotic endplates, Genu varum, Flared, irregular rib ends, Metaphyseal cupping, Pear-... |
OMIM:602111 |
| Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Stiff neck, Short long bone, Torticollis, Macrogl... |
OMIM:617022 |
| Osteogenesis Imperfecta, Type Xv |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility, Scoliosis, P... |
OMIM:615220 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Macrotia, Pneumothorax, Cutis laxa, Hip dysplasia, Hip dislocation, Camptodactyly, Inguinal herni... |
OMIM:617403 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Cutis laxa, Dermal translucency, Joint hypermobility, Pectus excavatum, Congenital diaphragmatic ... |
OMIM:614437 |
| Mucopolysaccharidosis, Type X |
|
Hyperlordosis, Genu valgum, Broad clavicles, Hip dysplasia, Left ventricular hypertrophy, Spatula... |
OMIM:619698 |
| Huntington Disease-Like 1 |
|
Abnormal posturing, Restlessness, Abnormal shoulder morphology |
ORPHA:157941 |
| Myotonia Congenita, Autosomal Recessive |
|
Dysphagia, Skeletal muscle hypertrophy, Muscle hypertrophy of the lower extremities |
OMIM:255700 |
| Osteogenesis Imperfecta, Type Xvi |
|
Conductive hearing impairment, Recurrent fractures, Angulated humerus, Short long bone, Multiple ... |
OMIM:616229 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Death in infancy, Metaphyseal c... |
ORPHA:163966 |
| Carpenter Syndrome 2 |
|
Camptodactyly, Pectus excavatum, Short neck, Posteriorly rotated ears, Umbilical hernia, Protrudi... |
OMIM:614976 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Myopathy, Respiratory distress |
ORPHA:91130 |
| Episodic Ataxia Type 1 |
|
Respiratory distress, Kyphoscoliosis, Scoliosis, Calf muscle hypertrophy |
ORPHA:37612 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Hip subluxation, Short phalanx of finger, Thoracic hypoplasia, Progressive calcification of costo... |
OMIM:271665 |
| Satoyoshi Syndrome |
|
Osteolytic defects of the phalanges of the hand, Genu valgum, Short metacarpal, Skeletal muscle h... |
OMIM:600705 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Knee flexion contracture, Upper limb undergrowth, Small hand, Muscular dystrophy, Camptodactyly, ... |
OMIM:608799 |
| Myotonia, Potassium-Aggravated |
|
Apneic episodes in infancy, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Stridor |
OMIM:608390 |
| Frank-Ter Haar Syndrome |
|
Delayed cranial suture closure, Short phalanx of finger, Camptodactyly, Redundant neck skin, Meta... |
OMIM:249420 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Thoracic hypoplasia, Squared-off platyspondyly, Premature osteoarthritis, Short neck, Delayed epi... |
ORPHA:93352 |
| Mucopolysaccharidosis, Type Iiid |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Hyperactivity, Low-set ears, Hip dysplasia, Elbow ... |
OMIM:252940 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Redundant skin, Abnormal sacroiliac joint morphology |
ORPHA:1807 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Horizontal ribs, Short 4th metacarpal, Thoracic hypoplasia, Camptodactyly, Broad hallux, Ovoid ve... |
OMIM:618019 |
| Trisomy 13 |
|
Abnormal antihelix morphology, Sensorineural hearing impairment, Kyphosis, Narrow chest, Abnormal... |
ORPHA:3378 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Hyperextensible skin, Hyperextensibility of the finger joints, Osteoarthritis,... |
OMIM:130000 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Axial muscle atrophy, Limb-girdle muscle weakness, Exertional dyspnea, Calf muscle hypertrophy, A... |
ORPHA:254361 |
| Osteogenesis Imperfecta, Type Xviii |
|
Thin bony cortex, Biconcave vertebral bodies, Recurrent fractures, Joint laxity, Joint hypermobil... |
OMIM:617952 |
| Lethal Congenital Contracture Syndrome 1 |
|
Abnormal thorax morphology, Widening of cervical spinal canal, Hypoplasia of the musculature, Ske... |
OMIM:253310 |
| Hurler Syndrome |
|
Camptodactyly of finger, Rhinitis, Abnormality of the elbow, Death in infancy, Narrow pelvis bone... |
ORPHA:93473 |
| Short Stature-Micrognathia Syndrome |
|
2-3 toe syndactyly, Broad femoral neck, Coxa valga, Joint laxity, Bowing of the legs, Skeletal mu... |
OMIM:617164 |
| Mucopolysaccharidosis, Type Iiic |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Hyperactivity, Dense calvaria, Kyphoscoliosis, Dys... |
OMIM:252930 |
| C Syndrome |
|
Sacral dimple, Aplasia/Hypoplasia of the abdominal wall musculature, Joint dislocation, Death in ... |
ORPHA:1308 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory insufficiency, Choking episodes, Respiratory distress, Recurrent pneumonia, Upper air... |
ORPHA:60032 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Missing ribs, Hand polydactyly, Congenital hip dislocation, External ear malfo... |
ORPHA:1647 |
| Fibrinolytic Defect |
|
Hyperextensible skin |
OMIM:134900 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Flexion contracture, Flared iliac wing, Acetabular dysplasia, Macroglossia, Clubbing, Pectus exca... |
OMIM:617303 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
| Acromesomelic Dysplasia 4 |
|
Short phalanx of finger, Beaking of vertebral bodies, Thoracic platyspondyly, Lumbar hyperlordosi... |
OMIM:619636 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Bell-shaped thorax, Sensorineural hearing impairment, Wide anterior fontanel, Dysphagia, Epiphyse... |
OMIM:214100 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary arterial hypertension, Diastasis recti, Posterior rib fusion, Butterfly vertebrae, Pleu... |
OMIM:265380 |
| Cranioectodermal Dysplasia 3 |
|
Sagittal craniosynostosis, 2-3 toe syndactyly, Cutis laxa, Narrow chest, Joint laxity, Sandal gap... |
OMIM:614099 |
| Fontaine Progeroid Syndrome |
|
Respiratory insufficiency, Conductive hearing impairment, Pneumothorax, Recurrent aspiration pneu... |
OMIM:612289 |
| Atelosteogenesis, Type I |
|
Thoracic hypoplasia, Vertebral hypoplasia, Distal tapering femur, Elbow dislocation, Short femur,... |
OMIM:108720 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Respiratory insufficiency, Abnormal form of the vertebral bodies |
ORPHA:93941 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Joint stiffness, Joint laxity, Cutis laxa |
OMIM:314400 |
| Viss Syndrome |
|
Pneumothorax, Hip dislocation, Butterfly vertebrae, Pectus excavatum, Dysphagia, Contracture of t... |
OMIM:619472 |
| Immunodeficiency 49 |
|
Umbilical hernia, Cutis laxa, Posteriorly rotated ears, Wormian bones |
OMIM:617237 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hip subluxation, Flexion contracture, Tapered finger, Elbow flexion contracture, Scaling skin, Sl... |
OMIM:619503 |
| Acetazolamide-Responsive Myotonia |
|
Skeletal muscle hypertrophy, Dysphagia |
ORPHA:99736 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Shoulder dislocation, Conductive hearing impairment, Hip dislocation, Pectus excavatum, Congenita... |
ORPHA:536545 |
| Macular Degeneration, Age-Related, 3 |
|
Distal amyotrophy, Hyperextensible skin, Joint hypermobility |
OMIM:608895 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormal rib morphology, Pectus excavatum, Hypoplastic distal segments of scapulae, Joint hypermo... |
OMIM:602196 |
| Brody Disease |
|
Flexion contracture, Skeletal muscle hypertrophy |
OMIM:601003 |
| Van Den Ende-Gupta Syndrome |
|
Tapered finger, Hallux valgus, Elbow flexion contracture, Slender metacarpals, Pectus excavatum, ... |
OMIM:600920 |
| Alg12-Cdg |
|
Sensorineural hearing impairment, Abnormal bone ossification, Short long bone, Ulnar deviation of... |
ORPHA:79324 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Supernumerary ribs, Darwin tubercle of helix, Joint hypermobility, Pectus excavatum, Inguinal her... |
OMIM:619122 |
| Lethal Congenital Contracture Syndrome 5 |
|
Respiratory insufficiency, Flexion contracture, Centrally nucleated skeletal muscle fibers, Death... |
OMIM:615368 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Macrotia, Abnormal bone ossification, Thin metatarsal cortices, Slender long bone, Hypoplasia of ... |
ORPHA:2463 |
| Specific Granule Deficiency 2 |
|
Hyperextensible skin, Death in infancy, Brachydactyly, Recurrent pneumonia, Osteopenia, Simple ea... |
OMIM:617475 |
| Holzgreve Syndrome |
|
Macrotia, Abnormal metacarpal morphology, Hand polydactyly, Joint stiffness, Abnormal morphology ... |
ORPHA:2167 |
| Cole-Carpenter Syndrome |
|
Crumpled long bones, Recurrent fractures, Kyphosis, Wormian bones, Scoliosis, Joint hyperflexibil... |
ORPHA:2050 |
| Acrofrontofacionasal Dysostosis 2 |
|
Sacral dimple, Wide anterior fontanel, Hand polydactyly, Redundant neck skin, Broad hallux, Synda... |
OMIM:239710 |
| Gaucher Disease, Perinatal Lethal |
|
Thoracic hypoplasia, Petechiae, Microtia, Purpura, Respiratory distress, Apnea, Dysphagia, Low-se... |
OMIM:608013 |
| Antley-Bixler Syndrome |
|
Delayed cranial suture closure, Camptodactyly of finger, Recurrent fractures, Narrow chest, Elbow... |
ORPHA:83 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal antihelix morphology, Conductive hearing impairment, Flexion contracture, Humeroradial s... |
ORPHA:95699 |
| Trisomy 1Q |
|
Camptodactyly of finger, Preaxial hand polydactyly, Short thorax, Toe syndactyly, Congenital diap... |
ORPHA:261344 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... |
OMIM:601376 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Radial bowing, Lower limb undergrowth, Abnormal rib morphology, Abnormality of fibul... |
ORPHA:3035 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Cutis laxa, Broad hallux, Syndactyly, Short neck, Sandal gap, Brachydactyly |
OMIM:614800 |
| Mucopolysaccharidosis Type 3 |
|
Conductive hearing impairment, Flexion contracture, Abnormality of the middle ear ossicles, Dysph... |
ORPHA:581 |
| Osteoglophonic Dysplasia |
|
Short phalanx of finger, Increased susceptibility to fractures, Short metatarsal, Pseudoarthrosis... |
OMIM:166250 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Scaling skin, Dry skin, Cutis laxa |
ORPHA:2269 |
| Acrorenal-Mandibular Syndrome |
|
Abnormal sacral segmentation, Toe syndactyly, Elbow flexion contracture, Butterfly vertebrae, Hip... |
OMIM:200980 |
| Familial Osteodysplasia, Anderson Type |
|
Increased susceptibility to fractures, Aplastic clavicle, Recurrent fractures, Kyphosis, Aplasia/... |
ORPHA:2769 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Hyperextensible skin, Joint laxity, Pectus excavatum, Inguinal hernia, Calcaneovalgus deformity, ... |
OMIM:225320 |
| Monosomy 9Q22.3 |
|
Polydactyly, Hyperactivity, Kyphosis, Thickened ears, Pectus excavatum, Short neck, Joint hyperfl... |
ORPHA:77301 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Broad femoral neck, Small hand, Spina bifida occulta, Thickened cortex of long bones, Short neck,... |
ORPHA:488434 |
| Gapo Syndrome |
|
Hyperextensible skin, Abnormal metaphysis morphology, Abnormal thorax morphology, Abnormal pelvic... |
ORPHA:2067 |
| Anaplastic Thyroid Carcinoma |
|
Abnormal skeletal muscle morphology, Respiratory distress, Upper airway obstruction, Dyspnea, Cou... |
ORPHA:142 |
| Loeys-Dietz Syndrome 4 |
|
Protrusio acetabuli, Abnormal sternum morphology, Hyperextensible skin, Striae distensae, Pneumot... |
OMIM:614816 |
| Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Respiratory failure, Aplastic clavicle, Patellar aplasia, Microtia, thir... |
ORPHA:2554 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Diastasis recti, Thoracic hypoplasia, Large placenta, Omphalocele, Umbi... |
ORPHA:254534 |
| Congenital Tracheomalacia |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Tracheobronchomalacia, Pneumothorax, ... |
ORPHA:95430 |
| Mucopolysaccharidosis, Type Iiib |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Hyperactivity, Dense calvaria, Joint stiffness, He... |
OMIM:252920 |
| Bent Bone Dysplasia Syndrome 2 |
|
Short sternum, Short tibia, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
| Achondrogenesis, Type Ii |
|
Horizontal ribs, Hypoplastic iliac wing, Short tubular bones of the hand, Short ribs, Short long ... |
OMIM:200610 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Hyperextensible skin, Joint hypermobility, Spina bifida occulta, Skeletal muscle atrophy, Joint h... |
ORPHA:230839 |
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Joint dislocation, Hyperextensible skin, Striae distensae, Joint laxity, Joint hypermobility, Sof... |
OMIM:130020 |
| Osteogenesis Imperfecta, Type Vii |
|
Delayed cranial suture closure, Protrusio acetabuli, Crumpled long bones, Recurrent fractures, Co... |
OMIM:610682 |
| Occipital Horn Syndrome |
|
Delayed cranial suture closure, Coxa valga, Large iliac wing, Hip dislocation, Abnormality of the... |
ORPHA:198 |
| Short-Rib Thoracic Dysplasia 12 |
|
Horizontal ribs, Respiratory insufficiency, Thoracic dysplasia, Short neck, Short palm, Posterior... |
OMIM:269860 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Flexion contracture, Coxa valga, Dislocated radial head, Genu recurvatum, Hyperextensible skin, R... |
OMIM:130070 |
| Pyknoachondrogenesis |
|
Horizontal ribs, Unossified sacrum, Enlarged thorax, Short thorax, Short ribs, Short long bone, P... |
ORPHA:3003 |
| Alagille Syndrome |
|
Butterfly vertebral arch, Vertebral segmentation defect, Protruding ear, Clinodactyly of the 5th ... |
ORPHA:52 |
| Farber Disease |
|
Respiratory insufficiency, Short toe, Abnormality of the knee, Flexion contracture, Abnormal ster... |
ORPHA:333 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Left ventricular hypertrophy, Hearing impairment, Respiratory distress |
OMIM:616733 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Adducted thumb, Dysphagia, Low-set ears, Rocker bottom foot |
ORPHA:89844 |
| Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Increased susceptibility to fractures, Delayed closure of the anterior fontanelle, Epiphyseal str... |
OMIM:604922 |
| Noonan Syndrome 8 |
|
Abnormal sternum morphology, Hyperextensible skin, Palmoplantar cutis laxa, Left ventricular hype... |
OMIM:615355 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Abnormal rib morphology, Abnormality of the vertebral column, Sprengel anomaly, Conductive hearin... |
OMIM:601076 |
| Osteopathia Striata With Cranial Sclerosis |
|
Delayed closure of the anterior fontanelle, Conductive hearing impairment, Camptodactyly, Pectus ... |
OMIM:300373 |
| Cantú Syndrome |
|
Coxa valga, Finger syndactyly, Cuboid-shaped vertebral bodies, Short hallux, Short neck, Ovoid ve... |
ORPHA:1517 |
| Cole-Carpenter Syndrome 2 |
|
Recurrent fractures, Kyphosis, Coronal craniosynostosis, Pectus excavatum, Wide cranial sutures, ... |
OMIM:616294 |
| Multiple Synostoses Syndrome 1 |
|
2-3 toe syndactyly, Stapes ankylosis, Conductive hearing impairment, Bilateral conductive hearing... |
OMIM:186500 |
| Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Short neck, Respiratory distress, Adducted thumb |
ORPHA:50810 |
| Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Kyphosis, Death in infancy, Hypoplastic vertebral bodies, Inguinal hernia, Short ... |
OMIM:230500 |
| Chromosome 18P Deletion Syndrome |
|
Macrotia, Coxa vara, Toe syndactyly, Clinodactyly of the 5th finger, Hypomimic face, Redundant ne... |
OMIM:146390 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Pica, Central sleep apnea, Clinodactyly, Camptodactyly, Redundant neck skin, Joint hypermobility,... |
OMIM:617360 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Joint dislocation, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Os... |
ORPHA:1901 |
| Short Rib-Polydactyly Syndrome |
|
Horizontal ribs, Short tibia, Absent or minimally ossified vertebral bodies, Polydactyly, Thoraci... |
ORPHA:1505 |
| Mgat2-Cdg |
|
Kyphosis, Respiratory distress, Prominent antihelix, Brachydactyly, Pectus excavatum, Abnormal ea... |
ORPHA:79329 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Respiratory insufficiency, Protrusio acetabuli, Arachnodactyly, Joint dislocation, Palmoplantar c... |
OMIM:225400 |
| Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Osteolysis, Abnormal rib morphology, Fibrous dysplasia of the bones, Hearing im... |
ORPHA:249 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Hyperextensible skin, Slender long bone, Spina bifida occulta, Joint hyperflexibility, Cubitus va... |
ORPHA:1185 |
| Avian Influenza |
|
Pneumothorax, Rhabdomyolysis, Productive cough, Hypoxemia, Respiratory distress, Miscarriage, Ple... |
ORPHA:454836 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased variability in muscle fiber diameter, Death in infancy, Irregular respiration, Respirat... |
OMIM:604377 |
| Gm1 Gangliosidosis Type 1 |
|
Broad long bone diaphyses, Macrotia, Aspiration pneumonia, Short long bone, Flattened femoral hea... |
ORPHA:79255 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Low-set ears, Neonatal death, Redundant neck skin, Brachydactyly |
OMIM:610498 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Horizontal ribs, Short tibia, Neonatal death, Hypoplastic pubic bone, Wide anterior fontanel, Mic... |
OMIM:617925 |
| Alpha-Mannosidosis, Infantile Form |
|
Thickened ribs, Hypoplastic inferior ilia, Cortical thickening of long bone diaphyses, Pectus exc... |
ORPHA:309282 |
| Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Toe syndactyly, Pectus excavatum, Short neck, Postaxial hand polydactyly... |
ORPHA:373 |
| Zaki Syndrome |
|
Sacral dimple, Hyperextensible skin, Toe syndactyly, Long fingers, Congenital diaphragmatic herni... |
OMIM:619648 |
| Neuromuscular Oculoauditory Syndrome |
|
Knee flexion contracture, Wrist flexion contracture, Sensorineural hearing impairment, Calf muscl... |
OMIM:618733 |
| Nestor-Guillermo Progeria Syndrome |
|
