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Gene: Myog MGI:97276

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

myogenin

Synonyms:

myo, bHLHc3

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Myog mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Myog (0 diseases)
Human diseases predicted to be associated with Myog (1424 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Myog by phenotypic similarity.

Disease	Matching phenotypes	Source
Lethal Congenital Contracture Syndrome 1	Skeletal muscle atrophy, Hypoplasia of the musculature, Micrognathia, Edema, Abnormal thorax morp...	OMIM:253310
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Lethal Congenital Contracture Syndrome 3	Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co...	OMIM:611369
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ...	OMIM:156530
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver...	OMIM:184400
Poland Syndrome	Unilateral absence of pectoralis major muscle, Syndactyly, Unilateral oligodactyly, Unilateral hy...	OMIM:173800
Sprengel Deformity	Torticollis, Shoulder muscle hypoplasia, Short neck, Abnormal shoulder morphology, Abnormality of...	ORPHA:3181
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Spinal rigidity, Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in ...	OMIM:300717
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Hand muscle atrophy, Os odontoideum, Joint laxity, Lumbar hyperlordosis, Spondylolisthesis at L5-...	OMIM:600561
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa...	OMIM:613330
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture...	ORPHA:1145
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Spinal muscular atrophy, Respiratory insufficiency, Proximal am...	OMIM:253300
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc...	ORPHA:266
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ...	OMIM:617405
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Skeletal muscle atrophy, Rocker bottom foot, Short neck, Micrognathia, Kyphosis...	OMIM:618393
Congenital Muscular Dystrophy, Ullrich Type	Short neck, Micrognathia, Flexion contracture, Hyperextensibility at wrists, Knee flexion contrac...	ORPHA:75840
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Ophthalmoplegia, External, With Rib And Vertebral Anomalies	Torticollis, Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis, Pseudoarthr...	OMIM:618155
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Hernia, Anterior Diaphragmatic	Neonatal death, Congenital diaphragmatic hernia	OMIM:306950
Parastremmatic Dwarfism	Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis	OMIM:168400
Muscular Dystrophy, Congenital, 1B	Facial palsy, Spinal rigidity, Achilles tendon contracture, Generalized muscle hypertrophy, Pecto...	OMIM:604801
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death, Congenital diaphragmatic hernia	OMIM:226735
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Thoracomelic Dysplasia	Hyperlordosis, Short neck, Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Joint hyp...	ORPHA:1803
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ...	OMIM:224300
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Neonatal respiratory distress, Increased intervertebral spa...	OMIM:618961
Achondrogenesis, Type Ib	Inguinal hernia, Micromelia, Hypoplastic ilia, Respiratory insufficiency, Stillbirth, Narrow ches...	OMIM:600972
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Tapered finger...	OMIM:313420
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Rocker bottom foot, Short neck, Micrognathia, Kyphosis, Respiratory insu...	OMIM:611890
Brachyolmia Type 1, Hobaek Type	Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ...	OMIM:271530
Frontometaphyseal Dysplasia 1	Carpal synostosis, Skeletal muscle atrophy, Limited elbow movement, Absent frontal sinuses, Knee ...	OMIM:305620
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili...	ORPHA:93296
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Facial palsy, Camptodactyly of finger, Pectus excavatum, Increased variabil...	OMIM:614399
Pontocerebellar Hypoplasia, Type 1C	Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency, Respiratory failure,...	OMIM:616081
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing...	OMIM:151210
Perching Syndrome	Respiratory distress, Cyanosis, Scoliosis, Camptodactyly, Joint contracture	OMIM:617055
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Squared il...	OMIM:215045
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a...	OMIM:600175
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Dentin...	OMIM:259440
Thoracopelvic Dysostosis	Neonatal respiratory distress, Short ribs	OMIM:187770
Bethlem Myopathy 2	Scapular winging, Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocation, Myopathy, ...	OMIM:616471
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Hypoplasia of the mus...	ORPHA:2463
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Thoracic scoliosis, Short neck, Micrognathia, Flexion contracture, Generali...	OMIM:620369
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow fl...	OMIM:259450
Schneckenbecken Dysplasia	Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat...	OMIM:269250
Marinesco-Sjögren Syndrome	Skeletal muscle atrophy, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnorma...	ORPHA:559
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Digital Extensor Muscle Aplasia-Polyneuropathy	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ...	ORPHA:2926
Congenital Myopathy 14	Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi...	OMIM:618414
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ...	OMIM:187760
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Delayed skeletal maturation, Abnormal rib morphology, Pectus carinatum, Radiou...	ORPHA:3268
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Recurrent respiratory infections, Facial palsy, Centrally nucleated skel...	OMIM:255320
Postsynaptic Congenital Myasthenic Syndromes	Thoracic kyphoscoliosis, Skeletal muscle atrophy, Cyanosis, Reduced vital capacity, Facial palsy,...	ORPHA:98913
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Iliac crest serration, Micromelia, Short neck, Wide distal femoral metaphysis, ...	OMIM:613320
Congenital Patella Dislocation	Aplasia/Hypoplasia of the quadriceps, Genu valgum, Limited knee extension, Knee flexion contracture	ORPHA:295036
Three M Syndrome 1	Scapular winging, Neonatal respiratory distress, Short neck, Pectus excavatum, Increased vertebra...	OMIM:273750
Congenital Fiber-Type Disproportion Myopathy	Congenital hip dislocation, Micrognathia, Flexion contracture, Knee flexion contracture, Aspirati...	ORPHA:2020
Thoracic Dysostosis, Isolated	Pectus excavatum, Short ribs, Bell-shaped thorax	OMIM:187750
Fibrochondrogenesis 2	Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti...	OMIM:614524
Congenital Muscular Dystrophy With Intellectual Disability	Neuropathic spinal arthropathy, Hypoglycosylation of alpha-dystroglycan, Multiple joint contractu...	ORPHA:370968
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Tremor, Dyspnea, Upper limb muscle weakness, ...	ORPHA:90117
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Apnea, Respiratory insufficiency, Respiratory failure, Muscular dystrophy	OMIM:613869
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Multiple prenatal fractures, Abnormal thorax morphology, F...	ORPHA:171433
Nemaline Myopathy 8	Death in infancy, Facial palsy, Flexion contracture, Respiratory failure, Myofibrillar myopathy, ...	OMIM:615348
Congenital Diaphragmatic Hernia	Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Hypox...	ORPHA:2140
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Short ...	OMIM:187600
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Rhizomelia, Micromelia, Short neck, Abnormal thumb morphology, Abnormal fe...	ORPHA:1842
Thoracomelic Dysplasia	Bell-shaped thorax, Short ribs	OMIM:273740
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Reduced vital capacity, Quadriceps muscle weakness, Achilles tendon contracture...	OMIM:603689
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Flexion contract...	OMIM:616867
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Respiratory insufficie...	OMIM:300718
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v...	OMIM:228520
Combined Oxidative Phosphorylation Deficiency 8	Death in infancy, Pulmonary hypoplasia, Death in childhood, Neonatal death, Increased variability...	OMIM:614096
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T...	ORPHA:53697
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,...	OMIM:602557
Bent Bone Dysplasia Syndrome 2	Osteopenia, Bowed humerus, Short neck, Short tibia, Ulnar bowing, Thin ribs, Femoral bowing, Coro...	OMIM:620076
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Beaded ribs, Short neck, Decre...	OMIM:616897
Cooper-Jabs Syndrome	Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs, Proximal placement of thu...	ORPHA:1488
Spastic Paraplegia 18B, Autosomal Recessive	Skeletal muscle atrophy, Kyphosis, Scoliosis, Joint contracture, Lower limb muscle weakness	OMIM:611225
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Syndactyly, Omphalocele, Thoracic hypoplasia, Postaxial polydactyly, Microm...	OMIM:617895
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
Neuralgic Amyotrophy	Scapular winging, Acrocyanosis, Respiratory insufficiency, Sprengel anomaly	ORPHA:2901
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v...	ORPHA:40
Fibrochondrogenesis	Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib ...	ORPHA:2021
Scarf Syndrome	Inguinal hernia, Diastasis recti, Craniosynostosis, Short neck, Abnormal form of the vertebral bo...	ORPHA:3134
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Pectus excavatum, Kyph...	OMIM:615290
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Pectus excavatum, Multiple prena...	OMIM:301014
Diaphanospondylodysostosis	Respiratory distress, Short neck, Missing ribs, Short thorax, Enlarged thorax, Narrow pelvis bone...	ORPHA:66637
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy, Recurrent fractures, Short neck, Micrognathia, Limitation of joint mobil...	ORPHA:1486
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Ab...	ORPHA:2790
Hyperekplexia 4	Inguinal hernia, Kyphoscoliosis, Flexion contracture, Respiratory failure, Distal arthrogryposis,...	OMIM:618011
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Short neck, Bowing of the legs, ...	OMIM:200600
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Hypophosphatasia, Infantile	Death in infancy, Apnea, Micromelia, Bowing of the legs, Craniosynostosis, Vertebral clefting, In...	OMIM:241500
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral...	ORPHA:2635
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Reduced vital capacity, Short neck, Kyphosis, Flexion contracture, Respiratory insufficiency, Bel...	ORPHA:178148
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger...	OMIM:186500
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Miscarriage, Hypoplastic ischia, Short neck, Bowing of the legs, Hypoplastic il...	ORPHA:1865
Heart Defects-Limb Shortening Syndrome	Death in infancy, Mesomelic/rhizomelic limb shortening, Accelerated skeletal maturation, Kyphosis...	ORPHA:1354
Frontometaphyseal Dysplasia	Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Spina bifida occult...	ORPHA:1826
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Increased connective tissue, Multiple prenatal fractures, ...	ORPHA:171430
Lethal Congenital Contracture Syndrome 11	Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Pulmonary hypoplasia, Camp...	OMIM:617194
Greenberg Dysplasia	Micromelia, Beaded ribs, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mine...	OMIM:215140
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Respiratory insufficiency due to muscle weakness, Kyphosis, Upper limb amyotrophy, Scoliosis, Low...	OMIM:617087
Monosomy 5P	Microretrognathia, Finger syndactyly, Inguinal hernia, Recurrent fractures, Short neck, Small han...	ORPHA:281
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar...	OMIM:250420
Atelosteogenesis, Type Ii	Death in infancy, Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral s...	OMIM:256050
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Limb-gird...	OMIM:620386
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Flat capital femoral epiphysis, Pectus carinatum, Genu valgum, Irregular ve...	OMIM:609223
Hereditary Motor And Sensory Neuropathy, Type Iic	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Down-...	OMIM:606071
Microphthalmia, Syndromic 12	Neonatal death, Pulmonary hypoplasia, Congenital diaphragmatic hernia	OMIM:615524
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Overlapping toe, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger	OMIM:618453
Achondroplasia	Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora...	OMIM:100800
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency...	ORPHA:254875
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Myopathy, X-Linked, With Postural Muscle Atrophy	Back pain, Skeletal muscle atrophy, Scapular winging, Short neck, Spinal rigidity, Achilles tendo...	OMIM:300696
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Reduced forced vital capa...	OMIM:620249
Congenital Myopathy 23	Skeletal muscle atrophy, Scapular winging, Reduced vital capacity, Kyphoscoliosis, Flexion contra...	OMIM:609285
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect...	ORPHA:2911
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste...	OMIM:122600
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Abnormal hemidi...	ORPHA:2257
Scarf Syndrome	Barrel-shaped chest, Inguinal hernia, Diastasis recti, Short neck, Abnormal form of the vertebral...	OMIM:312830
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Decreased hip abduction, Shoulder flexion contracture, Tremor, Respiratory insuf...	OMIM:605355
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Weakness of facial musculature, Respiratory failure	OMIM:618637
Rigid Spine Syndrome	Hip contracture, Skeletal muscle atrophy, Pneumonia, Hyperlordosis, Spinal rigidity, Abnormality ...	ORPHA:97244
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Short neck, Micrognathia, Tracheobronchomalacia, Narrow chest, Sho...	ORPHA:56304
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Tremor, Respiratory insufficiency due to muscle weakness, Flexion contracture, Respiratory failur...	ORPHA:2590
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Short neck, Micrognathia, Metaphyseal wid...	OMIM:224400
Lethal Congenital Contracture Syndrome 8	Death in infancy, Polyhydramnios, Flexion contracture, Facial diplegia, Distal amyotrophy, Distal...	OMIM:616287
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Spinal rigidity, Tapered fi...	OMIM:254940
Arthrogryposis Multiplex Congenita 6	Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Increased variability ...	OMIM:619334
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Osteopenia, Decreased muscle mass, Congenital hip dislocation, Arachnodacty...	OMIM:271225
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Apnea, Pulmonary hypoplasia	OMIM:615228
Autosomal Dominant Brachyolmia	Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp...	ORPHA:93304
Solitary Bone Cyst	Back pain, Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Abnormal form of...	ORPHA:83468
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Thin ribs, Incr...	OMIM:312150
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Scapular winging, Ankle flexion contracture, Flexion contracture, Elbow flexion ...	OMIM:617468
Cleidocranial Dysplasia 1	Respiratory distress, Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuse...	OMIM:119600
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, Type 1...	ORPHA:98905
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Congenital hi...	OMIM:618291
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S...	OMIM:200610
Orofaciodigital Syndrome Iii	Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum	OMIM:258850
Bullous Dystrophy, Hereditary Macular Type	Death in childhood, Acrocyanosis, Short finger, Tapered finger	OMIM:302000
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hyperlordosis, Fatty replacement of skeletal muscle, Osteolysis, Increased susceptibility to frac...	ORPHA:52430
Congenital Myopathy 21 With Early Respiratory Failure	Spinal rigidity, Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, EMG: ...	OMIM:620326
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost...	OMIM:609052
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis, Join...	OMIM:618323
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu...	OMIM:166210
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Vertebral segmentation defect, Pulmonary hypoplasia, Abnormal lung lobation, Camptodactyly of finger	ORPHA:2631
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Kyphosis, Se...	OMIM:259420
Bruck Syndrome 2	Osteopenia, Inguinal hernia, Flexion contracture, Elbow flexion contracture, Pectus carinatum, Kn...	OMIM:609220
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Skeletal muscle atrophy, Increased bone mineral density, Arachnodactyly, Recur...	OMIM:614856
Asbestos Intoxication	Reduced vital capacity, Cyanosis, Lung adenocarcinoma, Reduced forced vital capacity, Nonproducti...	ORPHA:2302
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Thin ribs, Incr...	OMIM:253290
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Arthrogryposis multiplex congenita, Unilateral wrist flexion contracture, Pulmonary hypoplasia, K...	OMIM:616531
Osteogenesis Imperfecta, Type Xv	Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios...	OMIM:615220
Braddock Syndrome	Congenital muscular torticollis, Neonatal respiratory distress, Short neck, Pectus excavatum, Mis...	ORPHA:52047
Fibrosis Of Extraocular Muscles, Congenital, 3C	Pectus excavatum, Kyphosis, Congenital fibrosis of extraocular muscles	OMIM:609384
Autosomal Dominant Spondylocostal Dysostosis	Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m...	ORPHA:1797
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon...	OMIM:263000
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Respirato...	ORPHA:2771
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Short neck, Bowing of the legs, Micrognathia, Pectus carinatum, Knee flexion contract...	OMIM:271665
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac...	ORPHA:3003
Achondrogenesis Type 1A	Multiple rib fractures, Femoral hernia, Recurrent fractures, Micromelia, Short neck, Micrognathia...	ORPHA:93299
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Myopathy, Cyanosis	ORPHA:91130
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Kyphosis, Abnormal ossification involving the f...	ORPHA:2114
3Mc Syndrome 2	Torticollis, Diastasis recti, Hypoplasia of the musculature, Partial abdominal muscle agenesis, L...	OMIM:265050
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Postaxial polydactyly, Missing ribs, Hypoplastic ischia, Micromelia, Ulnar bowing,...	OMIM:617866
Marshall-Smith Syndrome	Thoracic scoliosis, Large sternal ossification centers, Apnea, Accelerated skeletal maturation, D...	OMIM:602535
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Micrognathia...	ORPHA:536516
Seckel Syndrome 4	11 pairs of ribs, Steep acetabular roof	OMIM:613676
Spinal Muscular Atrophy, Ryukyuan Type	Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy	OMIM:271200
Nail-Patella Syndrome	Back pain, Biceps aplasia, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Absence of pectoralis ...	OMIM:161200
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Pectus ...	OMIM:615349
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Pectus excavatum, Multiple prenatal fractures, Pectus carinatum, Decreased calvarial ossification...	OMIM:259410
Myotonia With Skeletal Abnormalities And Mental Retardation	Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, Skeletal muscle...	OMIM:255710
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Arachnodactyly, Missing ribs, Dyspnea, Abnormal rib morphology, Hemivertebr...	ORPHA:2759
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Tremor, Kyphosis, Distal upper limb amyotrophy, Scoliosis	ORPHA:101075
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Pulmonary hypoplasia, Congenital diaphragmatic hernia	ORPHA:2141
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the ...	OMIM:615630
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Respiratory failure requiring assisted ventilation, Death in infancy, Nemaline bodies, Increased ...	OMIM:620265
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Distal amyotrophy, Respiratory distress, Kyphoscoliosis	OMIM:619099
Mazabraud Syndrome	Fibrous dysplasia of the bones, Bone pain, Recurrent fractures	ORPHA:57782
Nemaline Myopathy 7	Lumbar hyperlordosis, Kyphoscoliosis, Fatty replacement of skeletal muscle, Respiratory insuffici...	OMIM:610687
Becker Nevus Syndrome	Lipoatrophy, Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectu...	ORPHA:64755
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Distal lower limb amyotrophy, Intrinsic hand muscle atrophy, Upper limb amyotrophy, Respiratory i...	ORPHA:90103
Pallister-Hall-Like Syndrome	Death in infancy, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislo...	OMIM:241800
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Stuve-Wiedemann Syndrome 2	Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth...	OMIM:619751
Diastrophic Dysplasia	Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Micrognathia, Abnormal for...	ORPHA:628
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure, Ragged-red muscle fibers	OMIM:616794
X-Linked Intellectual Disability, Seemanova Type	Skeletal muscle atrophy, Hypoplasia of the musculature	ORPHA:85323
Meier-Gorlin Syndrome 1	Respiratory distress, Micrognathia, Lateral clavicle hook, Flexion contracture, Flat glenoid foss...	OMIM:224690
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu...	OMIM:619773
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Joint contracture, Polyhydramnios, Hypoplasia of the musculature, Micrognathia	OMIM:225790
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Hyperlordosis, Spinal rigidity, Kyphosis, Increased adipose tissue, Respiratory insufficiency, Pr...	OMIM:617404
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit...	OMIM:265120
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Spinal rigidity, Respiratory insufficiency due to muscle weakness...	ORPHA:352447
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia...	OMIM:156400
Donnai-Barrow Syndrome	Omphalocele, Congenital diaphragmatic hernia, Umbilical hernia, Short sternum, Diaphragmatic even...	OMIM:222448
Sialidosis Type 2	Skeletal muscle atrophy, Inguinal hernia, Tremor, Kyphosis, Dyspnea, Short thorax, Flexion contra...	ORPHA:87876
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia...	ORPHA:2347
Gorham-Stout Disease	Osteopenia, Torticollis, Abnormal pelvis bone morphology, Osteomyelitis, Osteolysis involving bon...	ORPHA:73
Ullrich Congenital Muscular Dystrophy 1	Joint laxity, Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers,...	OMIM:254090
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Micrognathia, Absent middle phalanx of 3rd fin...	OMIM:308050
Hypophosphatasia	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Respira...	ORPHA:436
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	11 pairs of ribs, Hip contracture, Neonatal respiratory distress, Inguinal hernia, Short neck, Me...	OMIM:616266
Osteogenesis Imperfecta, Type Xxi	Barrel-shaped chest, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa valga, Osteo...	OMIM:619131
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Vertebral wedging, Abno...	OMIM:610967
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook, Jaundice, Early ossification of ...	OMIM:208500
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Abnormality of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic hernia	OMIM:601163
Typical Nemaline Myopathy	Short neck, Micrognathia, Limb-girdle muscle weakness, Flexion contracture, Narrow chest, Type 1 ...	ORPHA:171436
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Knee...	OMIM:600920
Momo Syndrome	Delayed skeletal maturation, Short sternum, Cutis marmorata, Short neck	OMIM:157980
Poliomyelitis	Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Stiff neck, Hypoplas...	ORPHA:2912
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Rhizomeli...	OMIM:616229
Tarp Syndrome	Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hypoplasia of the radi...	OMIM:311900
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h...	OMIM:252600
Prieto Syndrome	11 pairs of ribs, Inguinal hernia, Coxa valga, Osteoporosis, Radial deviation of finger, Clinodac...	OMIM:309610
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary hypoplasia	OMIM:619003
Weaver Syndrome	Short fourth metatarsal, Accelerated skeletal maturation, Calcaneovalgus deformity, Hypoplastic i...	OMIM:277590
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:245650
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Neonatal respiratory distress, Multiple joint contractures, Hypoventilat...	ORPHA:70
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low...	OMIM:613954
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Skeletal muscle atrophy, Thoracic scoliosis, Death in infancy, Abnormality ...	OMIM:620278
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Short neck, Decreased cervical spine flexion due to contractures of posterior cervical...	ORPHA:98863
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Micromelia, Micrognathi...	OMIM:122470
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto...	OMIM:135100
Geroderma Osteodysplastica	Prematurely aged appearance, Recurrent fractures, Vertebral compression fracture, Hip dislocation...	ORPHA:2078
Osteopetrosis, Autosomal Dominant 2	Facial palsy, Recurrent fractures, Mandibular osteomyelitis, Abnormality of the vertebral endplat...	OMIM:166600
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Inguinal hernia, Kyphosis, Pectus carinatum, Reduced bone mineral density, Delayed ossification o...	OMIM:618392
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Long clavicles, Lumbar hyper...	ORPHA:2839
Nemaline Myopathy 2	Skeletal muscle atrophy, Apnea, Fatty replacement of skeletal muscle, Flexion contracture, Congen...	OMIM:256030
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Pectus carinatum, Joint hyperflexibility, Upper limb hypertonia, Limb dystonia	ORPHA:319199
Momo Syndrome	Cutis marmorata, Short neck, Femoral bowing, Short sternum, Abnormal bone ossification, Congenita...	ORPHA:2563
Orofaciodigital Syndrome Type 3	Pectus excavatum, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum, Thoracic...	ORPHA:2752
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc...	OMIM:613686
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Congenital contracture, Respiratory failure	OMIM:225753
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Kyphosis, Scoliosis, Skeletal muscle atrophy	ORPHA:101078
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
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Neonatal Severe Primary Hyperparathyroidism	Abnormal metaphysis morphology, Recurrent fractures, Narrow chest	ORPHA:417
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Osteopenia, Inguinal hernia, Short femur, Metaphyseal spurs, Recurrent frac...	OMIM:618188
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr...	ORPHA:98855
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Short neck, Abnormal sacrum morphology, Abnormal rib morphology,...	ORPHA:2345
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Inguinal hernia, Camptodactyly of finger, Hypoplasia of the musculature, Pectus excavatum, Ulnar ...	ORPHA:1101
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Abnormal intervertebral disk ...	ORPHA:2311
Mycetoma	Back pain, Prominent superficial veins, Osteomyelitis, Abnormal thorax morphology, Bone cyst, Ost...	ORPHA:2583
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Polyhydramnios, Edema, Macroglossia, Short long bone, Narrow chest, Fla...	ORPHA:1423
Emery-Dreifuss Muscular Dystrophy	Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr...	ORPHA:98853
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, Flexion contracture, Increa...	OMIM:618484
Pericardial And Diaphragmatic Defect	Neonatal respiratory distress, Congenital diaphragmatic hernia, Hypoxemia, Aplasia of the left he...	ORPHA:2847
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Recurrent pneumonia,...	OMIM:602271
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Short metatarsal, Abn...	ORPHA:93351
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals	OMIM:618724
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Micrognathia, Short neck, Dyspnea, Respiratory failure, Mandibular aplasia	ORPHA:1832
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif...	OMIM:222600
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Progero...	OMIM:231070
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Pectus carinatum, Kyphosis, Hip dysplasia, Facial myokymia	OMIM:620007
Muscular Dystrophy, Duchenne Type	Hypoventilation, Calf muscle pseudohypertrophy, Hyperlordosis, Respiratory insufficiency due to m...	OMIM:310200
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyse...	OMIM:112250
Osteogenesis Imperfecta, Type Viii	Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat...	OMIM:610915
Central Core Disease	Joint laxity, Neonatal respiratory distress, Multiple joint contractures, Congenital hip dislocat...	ORPHA:597
Thoraco-Abdominal Enteric Duplication	Camptodactyly of finger, Respiratory insufficiency, Missing ribs	ORPHA:1759
Nemaline Myopathy 10	Skeletal muscle atrophy, Death in infancy, Facial palsy, Fatty replacement of skeletal muscle, Re...	OMIM:616165
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Limitation of joint mobility, Congenital foot contractures, Distal amyotrophy, Scoliosi...	ORPHA:3454
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Short neck, Micrognathia, Kyphosis,...	ORPHA:3409
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Flexion contracture, Pulmonary hypoplasia, Respiratory distress	OMIM:616733
Spondylometaphyseal Dysplasia, Kozlowski Type	Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Halberd-shaped pelv...	OMIM:184252
Fetal Akinesia Deformation Sequence	Multiple joint contractures, Camptodactyly of finger, Respiratory insufficiency, Generalized amyo...	ORPHA:994
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Wide distal...	OMIM:269150
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o...	OMIM:609616
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Abnormal dental enamel morphology, Sp...	ORPHA:2092
Myopathy, Centronuclear, 2	Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Kyphos...	OMIM:255200
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no...	OMIM:250220
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Pectus carinatum, Joint hyperflexibility, Lower limb hypertonia, Upper limb hypertonia,...	OMIM:614898
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Omphalocele, Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Squared...	OMIM:616300
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral...	OMIM:223800
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica...	OMIM:271630
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph...	OMIM:122860
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Apnea, Micrognathia, Proximal femoral metaphyseal irregularity, Tachypnea, Early ossification of ...	ORPHA:397715
Hypocalcemic Vitamin D-Resistant Rickets	Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Abnormal thorax morpholo...	ORPHA:93160
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c...	OMIM:300863
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Pectus carinatum, Tibial bowing, Reduced bone mineral density, Hypoplastic...	ORPHA:93315
Tarp Syndrome	Finger syndactyly, Cyanosis, Apnea, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pect...	ORPHA:2886
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Restrictive ventilatory defect, Verteb...	OMIM:608681
Diaphanospondylodysostosis	Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b...	OMIM:608022
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim...	ORPHA:174
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl...	OMIM:613091
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Flexion contracture, Myopathy, Dystonia, Neonatal death	OMIM:618237
Contractural Arachnodactyly, Congenital	Osteopenia, Short neck, Micrognathia, Knee flexion contracture, Pectus carinatum, Wrist flexion c...	OMIM:121050
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Postaxial hand polydactyly, Abnormal rib morphology, Pulmonary arterial hyp...	ORPHA:2519
Mohr-Tranebjaerg Syndrome	Tremor, Increased susceptibility to fractures, Intrinsic hand muscle atrophy, Dystonia	OMIM:304700
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific...	ORPHA:93360
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Micrognathia, Flexion contracture, 2-3 toe syndactyly, Respiratory insuff...	OMIM:618186
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Postaxial polydactyly,...	OMIM:614091
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Neonatal respiratory distress, Spinal muscular atrophy, Flexion contracture, Increased variabilit...	OMIM:616866
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Short-Rib Thoracic Dysplasia 12	Omphalocele, Inguinal hernia, Hypoplastic scapulae, Short neck, Bowing of the legs, Short toe, Sh...	OMIM:269860
Acute Interstitial Pneumonia	Cyanosis, Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRC...	ORPHA:79126
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Dystonia, Kyphosis, Platyspondyly, Flared iliac wing, Scoliosis, Anterio...	OMIM:230650
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Short neck, Micrognathia, Flexion contracture, Hemivertebrae, Tibial bowing, Narrow chest, Hypopl...	ORPHA:96334
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Postaxial foot polydactyly,...	OMIM:225500
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Enlargement of the ...	OMIM:600081
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures, Vertebral wed...	OMIM:610968
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placeme...	ORPHA:93267
Blomstrand Lethal Chondrodysplasia	Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Aplastic ...	ORPHA:50945
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ...	ORPHA:210110
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Short neck, Lateral ...	ORPHA:3144
Dysplasia Epiphysealis Hemimelica	Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Accele...	ORPHA:1822
Congenital Myopathy 3 With Rigid Spine	Reduced vital capacity, Facial palsy, Centrally nucleated skeletal muscle fibers, Spinal rigidity...	OMIM:602771
Osteogenesis Imperfecta, Type Vi	Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Increased susceptib...	OMIM:613982
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat...	ORPHA:239
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Scoliosis	OMIM:615066
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Pseudoachondroplasia	Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Ost...	OMIM:177170
Alg9-Cdg	Microretrognathia, Omphalocele, Torticollis, Rhizomelia, Lipodystrophy, Hypoplasia of the muscula...	ORPHA:79328
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol...	OMIM:277300
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Recurrent fractures, Bowing of the legs, Micrognathia, O...	OMIM:613849
Dominant Beta-Thalassemia	Bowing of the long bones, Hypoplasia of the musculature, Dyspnea, Jaundice, Osteoporosis, Genu va...	ORPHA:231226
Spondylospinal Thoracic Dysostosis	Arthrogryposis multiplex congenita, Pulmonary hypoplasia	OMIM:601809
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora...	OMIM:304120
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, S...	ORPHA:168555
Winchester Syndrome	Kyphosis, Osteolysis involving tarsal bones, Broad metacarpals, Carpal osteolysis	OMIM:277950
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemiver...	OMIM:271520
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Micrognathia, Accelerated skeletal maturation, Irregular vertebral endplates, Amelogenesis imperf...	OMIM:618363
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Respiratory insufficiency, Bell-shaped thorax, Shor...	OMIM:615633
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Omphalocele, Inguinal hernia, Joint laxity, Overlapping toe, Diastasis recti, Pectus ex...	ORPHA:254528
Wrinkly Skin Syndrome	Microretrognathia, Osteopenia, Scapular winging, Congenital hip dislocation, Inguinal hernia, Hyp...	OMIM:278250
Smith-Mccort Dysplasia 1	Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre...	OMIM:607326
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of...	OMIM:271650
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Hyperextensibility of the finger joints, Neonatal respiratory distress, Microgn...	OMIM:618356
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Spinal muscular atrophy, Camptodactyly of finger, Denervation of the diaphragm, Tachypnea, Distal...	OMIM:604320
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
Triosephosphate Isomerase Deficiency	Respiratory distress, Skeletal muscle atrophy, Death in infancy, Dystonia, Tremor, Kyphosis, Jaun...	OMIM:615512
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,...	OMIM:112350
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Melnick-Needles Syndrome	Omphalocele, Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Micrognathia, Short...	ORPHA:2484
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of...	OMIM:608728
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus...	OMIM:166260
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb...	OMIM:619795
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Tapered finger, Tremor, Flexion contracture, Distal amyotrophy, Respiratory failure, Scoliosis, I...	OMIM:616505
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaph...	OMIM:300232
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Skeletal muscle atrophy, Neonatal respiratory distress, Death in infancy, Respiratory insufficien...	OMIM:245400
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S...	OMIM:615503
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Craniofacial hyperostosis, Facial palsy, Abnormal muscle fiber morpholog...	ORPHA:3068
Arthrogryposis Multiplex Congenita 5	Short neck, Micrognathia, Flexion contracture, Hand tremor, Death in infancy, Neonatal respirator...	OMIM:618947
Ulbright-Hodes Syndrome	Respiratory distress, Short humerus, Short metacarpal, Short neck, Micrognathia, Humeroradial syn...	ORPHA:3404
Pycnodysostosis	Abnormal clavicle morphology, Micrognathia, Generalized osteosclerosis, Narrow chest, Hypoplastic...	ORPHA:763
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi...	ORPHA:70587
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Abnormal dental enamel morphology, Recurrent fract...	ORPHA:2050
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W...	ORPHA:1302
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva...	ORPHA:2772
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Congenital diaphragmatic hernia, Short neck, Missing ribs, Micrognathia, Abnormal ri...	ORPHA:1834
Basal Cell Nevus Syndrome 1	Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Hemi...	OMIM:109400
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Anterior rib cupping, Hyperlordosis, ...	OMIM:184250
Neu-Laxova Syndrome	Osteopenia, Skeletal muscle atrophy, Osteomalacia, Micromelia, Micrognathia, Flexion contracture,...	ORPHA:2671
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Short neck, Stillbirth, Pulmonary hypoplasia, Neonatal death, Arthrogryposis multiplex congenita	OMIM:236500
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis	ORPHA:2598
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short neck, Micrognathia, Metaphyseal widening, Flexion contracture, Delayed proximal femoral epi...	OMIM:271640
Turnpenny-Fry Syndrome	Thoracic kyphoscoliosis, Torticollis, Lumbar hyperlordosis, Facial hypotonia, Overlapping toe, Ta...	OMIM:618371
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb mo...	ORPHA:1120
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi...	OMIM:313400
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay	Osteopenia, Recurrent fractures	OMIM:619884
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Arachnodactyly, Joint stiffness, Kyphosis, Delayed skeletal maturation, Pectus carinatum, Scoliosis	ORPHA:1548
Osteofibrous Dysplasia, Susceptibility To	Pectus excavatum, Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Tonne-Kalscheuer Syndrome	Tremor, Pulmonary hypoplasia, Congenital diaphragmatic hernia	OMIM:300978
Albers-Schönberg Osteopetrosis	Osteomyelitis, Facial palsy, Recurrent fractures, Mandibular osteomyelitis, Generalized osteoscle...	ORPHA:53
Marden-Walker Syndrome	Skeletal muscle atrophy, Arachnodactyly, Camptodactyly of finger, Micrognathia, Pectus excavatum,...	ORPHA:2461
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Skeletal muscle atrophy, Acrocyanosis, Joint stiffness	ORPHA:2400
Craniofrontonasal Dysplasia	Abnormal clavicle morphology, Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly ...	ORPHA:1520
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening...	ORPHA:536467
Beta-Thalassemia Major	Bowing of the long bones, Hypoplasia of the musculature, Dyspnea, Jaundice, Osteoporosis, Genu va...	ORPHA:231214
Rin2 Syndrome	Increased susceptibility to fractures, Abnormal sternum morphology, Scoliosis, Umbilical hernia, ...	ORPHA:217335
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Hypoplastic scapulae, Generalized dystonia, Femoral retroversion, Micro...	ORPHA:79107
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Tapered finger, Pectus excavatum, Kyphosis, Pectus carinatum, Scoliosis	ORPHA:276630
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phosp...	OMIM:610910
Gillessen-Kaesbach-Nishimura Syndrome	Congenital diaphragmatic hernia, Short neck, Flexion contracture, Abnormal lung lobation, Pulmona...	OMIM:263210
Mucopolysaccharidosis, Type Iva	Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante...	OMIM:253000
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Rha...	ORPHA:454836
Holt-Oram Syndrome	Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc...	ORPHA:392
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Small hand, Hip dislocation, Short foot, Scoliosis	OMIM:300434
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Congenital diaphragmatic hernia, Short neck, Micrognathia, Accelerated skeletal matur...	OMIM:245600
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Achilles tendon contrac...	OMIM:607155
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening	ORPHA:1513
Cleidocranial Dysplasia	Sinusitis, Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the ...	ORPHA:1452
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w...	OMIM:608940
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Proximal placement of thumb, Short sternum, Clinodactyly of the 5th finger, Clinodactyly of the 4...	OMIM:620113
Arthrogryposis, Distal, Type 5	Decreased muscle mass, Arachnodactyly, Limited wrist extension, Reduced forced expiratory volume ...	OMIM:108145
Lethal Congenital Contracture Syndrome 5	Death in infancy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Respiratory in...	OMIM:615368
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ...	ORPHA:2616
Zimmermann-Laband Syndrome 3	Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Absent distal phalan...	OMIM:618658
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Miscarriage, Centrally nucleated skeletal muscle fibers,...	ORPHA:169189
Cole-Carpenter Syndrome 2	Microretrognathia, Osteopenia, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Platys...	OMIM:616294
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Aplasia/Hypoplasia of the patella, Micrognathia, ...	OMIM:613803
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Flexion contracture,...	ORPHA:536471
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal...	ORPHA:2769
Caudal Regression Syndrome	Decreased muscle mass, Missing ribs, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Abnormal ...	ORPHA:3027
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Enlargement of the ...	OMIM:241530
Osteogenesis Imperfecta, Type X	Respiratory distress, Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint...	OMIM:613848
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Prominent superficial veins, Lipoatrophy, Progeroid facial appearance, Microgn...	OMIM:614008
Mucopolysaccharidosis Type 4	Bowing of the long bones, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis,...	ORPHA:582
Crisponi Syndrome	Death in infancy, Camptodactyly of finger, Micrognathia, Kyphosis, Flexion contracture, Limitatio...	ORPHA:1545
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Camptodactyly of finger, Acute rhabdomyolysis, Micrognathia, Kyphosis, Osteoporosis, Scoliosis, A...	ORPHA:48431
Wieacker-Wolff Syndrome	Neonatal respiratory distress, Dystonia, Apnea, Facial palsy, Proximal placement of thumb, Short ...	OMIM:314580
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr...	ORPHA:166277
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Tremor, Generalized l...	ORPHA:363400
Pneumocystosis	Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough...	ORPHA:723
Grant Syndrome	Bowing of the long bones, Micrognathia, Abnormal cortical bone morphology, Abnormal rib morpholog...	ORPHA:2097
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Mosaic Trisomy 14	Camptodactyly of finger, Micrognathia, Short neck, Abnormal rib morphology, Narrow chest	ORPHA:1703
Achondrogenesis Type 1B	Femoral hernia, Micromelia, Short neck, Micrognathia, Abnormal enchondral ossification, Short tho...	ORPHA:93298
Lymphangiectasia, Intestinal	Stillbirth, Prominent floating ribs, Edema, Pedal edema	OMIM:152800
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Congenital diaphragmatic hernia, Short neck, Postaxial polydactyly, Micromelia...	OMIM:616546
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, Narrow chest, Hypoplasia of the uln...	OMIM:200980
Juvenile Paget Disease	Abnormal clavicle morphology, Bowing of the long bones, Recurrent fractures, Cranial hyperostosis...	ORPHA:2801
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Facial palsy, Spinal rigidity, Kyphosis, Dyspnea, Ragged-red musc...	OMIM:615084
Multiple Enchondromatosis, Maffucci Type	Pathologic fracture	OMIM:614569
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode, Apnea	OMIM:610992
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Short neck, Lateral clavicle hook, Micrognathia, Preaxial polydactyly, Hyp...	OMIM:617925
Mucolipidosis Iii Gamma	Hyperlordosis, Short neck, Kyphosis, Flat capital femoral epiphysis, Joint stiffness, Pectus cari...	OMIM:252605
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita, Micrognathia	OMIM:607598
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Short humerus, Short femur, Sandal gap, Rhizomelia, Hypoplasia of the radiu...	OMIM:607143
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Pontocerebellar Hypoplasia Type 1	Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita, Congenital lary...	ORPHA:2254
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Recurrent fractures	ORPHA:2773
Vacterl Association With Hydrocephalus	Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Abnormality of th...	OMIM:276950
Hereditary Sensory And Autonomic Neuropathy Type 1	Osteomyelitis, Poor wound healing, Limb pain, Distal amyotrophy, Cough, Pathologic fracture, Foot...	ORPHA:36386
Hypocalcemic Vitamin D-Dependent Rickets	Thin bony cortex, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorptio...	ORPHA:289157
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
High Altitude Pulmonary Edema	Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema	ORPHA:330012
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
X-Linked Charcot-Marie-Tooth Disease Type 5	Skeletal muscle hypertrophy, Kyphosis, Tremor, Scoliosis	ORPHA:99014
Cutis Laxa-Marfanoid Syndrome	Arachnodactyly, Congenital diaphragmatic hernia, Flexion contracture, Hip dislocation, Limitation...	ORPHA:171719
Atelosteogenesis, Type I	Short neck, Micrognathia, Short metatarsal, Tibial bowing, Narrow chest, Neonatal death, Vertebra...	OMIM:108720
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ...	OMIM:264700
Variant Abeta2M Amyloidosis	Multiple bony cystic lesions, Abnormal skeletal muscle morphology, Wrist pain, Pathologic fractur...	ORPHA:314652
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Decreased muscle mass, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Dentinog...	OMIM:616507
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,...	OMIM:602196
Noonan Syndrome 12	11 pairs of ribs, Pectus excavatum, Spinal canal stenosis, Proximal placement of thumb	OMIM:618624
Classic Glucose Transporter Type 1 Deficiency Syndrome	Choreoathetosis, Central apnea, Cyanosis, Dystonia	ORPHA:71277
Brachyolmia Type 3	Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondy...	OMIM:113500
Cdags Syndrome	Sagittal craniosynostosis, Kyphosis, Short ribs, Lambdoidal craniosynostosis, Short clavicles, Co...	OMIM:603116
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Achondroplasia	Bowing of the legs, Hip joint hypermobility, Abnormal iliac wing morphology, Narrow greater sciat...	ORPHA:15
Mosaic Variegated Aneuploidy Syndrome 1	Micrognathia, Short sternum, Embryonal rhabdomyosarcoma, Short neck	OMIM:257300
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Accelerated skeletal maturation, Pectus carinatum, Vertebral seg...	OMIM:312870
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	11 pairs of ribs, Rhizomelia, Hemivertebrae, Vertebral segmentation defect, Narrow chest	OMIM:617661
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ...	OMIM:251450
Infantile Systemic Hyalinosis	Osteopenia, Telangiectasia of the skin, Camptodactyly of finger, Micromelia, Short neck, Osteomal...	ORPHA:2176
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Kyphosis, E...	OMIM:618138
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea, Dystonia	OMIM:616277
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Congenital hip dislo...	ORPHA:496641
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Increased spinal bone density, Bone pain, Recurrent fractures	ORPHA:329475
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Thoracic scoliosis, Centrally nucleated skeletal muscle fibers...	OMIM:620351
Shprintzen-Goldberg Syndrome	Osteopenia, Bowing of the long bones, Inguinal hernia, Arachnodactyly, Camptodactyly of finger, A...	ORPHA:2462
Ceroid Lipofuscinosis, Neuronal, 10	Apnea, Split hand, Respiratory insufficiency, Respiratory failure, Neonatal death	OMIM:610127
Femoral-Facial Syndrome	Inguinal hernia, Short femur, Micrognathia, Abnormal sacrum morphology, Rib fusion, Abnormal rib ...	ORPHA:1988
Stuve-Wiedemann Syndrome 1	Apnea, Short neck, Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Short t...	OMIM:601559
Restrictive Dermopathy 2	Microretrognathia, Respiratory distress, Cyanosis, Overtubulated long bones, Short clavicles	OMIM:619793
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug...	ORPHA:2004
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Metaphyseal widening, Osteoporosis, Increased susc...	ORPHA:2788
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Thoracolumbar kyphosis, Kyphoscoliosis	OMIM:236660
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contr...	ORPHA:666
Lethal Congenital Contracture Syndrome 9	Thoracic kyphoscoliosis, Elbow extension contracture, Centrally nucleated skeletal muscle fibers,...	OMIM:616503
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Micrognathia...	ORPHA:2522
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn...	OMIM:608647
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of fir...	OMIM:154400
Serkal Syndrome	Pulmonary hypoplasia, Congenital diaphragmatic hernia	ORPHA:139466
Snakebite Envenomation	Epistaxis, Angioedema, Rhabdomyolysis, Erythema, Respiratory failure, Muscle fiber necrosis, Resp...	ORPHA:449285
Odontochondrodysplasia 1	Respiratory distress, Recurrent respiratory infections, Biconvex vertebral bodies, Death in infan...	OMIM:184260
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi...	OMIM:612847
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ...	OMIM:184100
Thanatophoric Dysplasia	Abnormal sacroiliac joint morphology, Kyphosis, Respiratory insufficiency, Platyspondyly, Pulmona...	ORPHA:2655
Progressive Pseudorheumatoid Dysplasia	Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Enl...	OMIM:208230
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Barrel...	ORPHA:94068
Osteogenesis Imperfecta, Type Iv	Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibility to fractur...	OMIM:166220
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Congenital diaphragmatic hernia, Micrognathia, Joint stiffness, Respiratory insufficiency, Verteb...	ORPHA:1166
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent fractures, Craniosynostosis, Erythema, Recurrent pneumonia, Scoliosis, Join...	OMIM:147060
Familial Expansile Osteolysis	Bowing of the long bones, Bone pain, Osteolysis, Pathologic fracture, Thin bony cortex	OMIM:174810
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Cyanosis, Short neck, Aplasia/Hypoplasia ...	ORPHA:3309
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Acceler...	ORPHA:380
Richieri Costa-Da Silva Syndrome	Decreased muscle mass, Diastasis recti, Kyphoscoliosis, Short neck, Metatarsus adductus, Limitati...	ORPHA:3101
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Limb joint contracture, Ankle flexion contracture, Short neck, Micrognathia, Craniosynostosis, Kn...	ORPHA:284417
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Congenital diaphragmatic hernia, Missing ribs, Apl...	ORPHA:1647
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D...	OMIM:263520
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Brachydactyly, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short distal phalanx o...	ORPHA:1858
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ...	OMIM:602080
Ruvalcaba Syndrome	Short metacarpal, Inguinal hernia, Micromelia, Kyphosis, Limited elbow extension, Short metatarsa...	OMIM:180870
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Co...	ORPHA:958
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia	OMIM:613124
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, G...	ORPHA:583
Alpha-Mannosidosis	Craniofacial hyperostosis, Bowing of the long bones, Inguinal hernia, Short neck, Kyphosis, Delay...	ORPHA:61
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol...	ORPHA:3082
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Death in childhood, Thoracolumbar kyphoscoliosis,...	OMIM:252500
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Congenital muscular dystrophy	ORPHA:1875
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Maternal Uniparental Disomy Of Chromosome 2	Neonatal respiratory distress, Miscarriage, Respiratory infections in early life, Contractures of...	ORPHA:96179
Marden-Walker Syndrome	Decreased muscle mass, Short neck, Kyphosis, Congenital contracture, Pulmonary hypoplasia, Scolio...	OMIM:248700
Schwartz-Jampel Syndrome, Type 1	Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Short neck, B...	OMIM:255800
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Congenital bilateral hip dislocation	ORPHA:85288
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ...	ORPHA:83
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ...	OMIM:277440
Ullrich Congenital Muscular Dystrophy 2	Facial palsy, Kyphoscoliosis, Flexion contracture, Nocturnal hypoventilation, Increased variabili...	OMIM:616470
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me...	OMIM:602111
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Atelectasis,...	ORPHA:258
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra...	OMIM:146300
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Broad hallux, Short neck, Clinodactyly of the 2nd toe, Coxa valga, Micrognathia...	OMIM:620073
Radio-Renal Syndrome	Respiratory distress, Micromelia, Short neck, Micrognathia, Dyspnea, Hypoplasia of the radius, Ab...	ORPHA:3015
Keppen-Lubinsky Syndrome	Lipodystrophy, Progeroid facial appearance, Micrognathia, Dyspnea, Flexion contracture, Recurrent...	ORPHA:435628
Arthrogryposis, Distal, Type 3	Decreased muscle mass, Lumbar hyperlordosis, Congenital hip dislocation, Camptodactyly of finger,...	OMIM:114300
Osteoglophonic Dysplasia	Respiratory distress, Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of fing...	OMIM:166250
Klippel-Feil Syndrome 1, Autosomal Dominant	Congenital muscular torticollis, Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 v...	OMIM:118100
Alg3-Cdg	Macroglossia, Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Dystonia	ORPHA:79321
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Abnormality of the cervical spine	OMIM:307500
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Short neck, Tapered finger, Hip dislocation, Thin ribs, Irr...	OMIM:618395
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Decreased muscle mass, Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal f...	ORPHA:73230
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Lumbar hyperlordosis, Rhizomelia, Kyphosis, Femoral bowing, ...	OMIM:616482
Microcephaly-Micromelia Syndrome	Micromelia, Short neck, Missing ribs, Absent thumb, Absent radius, Humeroradial synostosis, Micro...	OMIM:251230
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Omphalocele, Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis,...	ORPHA:371428
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Prominent interphalangeal joints, Clinodactyly of the 5th finger...	OMIM:135900
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Centrally nucleated skeletal muscle fibers, Thin ribs, My...	OMIM:300219
Congenital Tracheomalacia	Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost...	ORPHA:95430
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia...	ORPHA:36238
Myofibrillar Myopathy 10	Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract...	OMIM:619040
Spinocerebellar Ataxia Type 1	Skeletal muscle atrophy, Postural tremor, Abnormality of masticatory muscle, Respiratory failure,...	ORPHA:98755
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Short neck, Micrognathia, Short metatarsal, Narrow chest, Clinodactyly of the 5th fin...	OMIM:266920
Sialidosis Type 1	Skeletal muscle atrophy, Tremor, Kyphosis, Delayed skeletal maturation, Short thorax, Abnormal fo...	ORPHA:812
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Prominent superficial veins, Prematurely aged appearance, Lipoatrophy, Recurrent f...	OMIM:601812
Nphp3-Related Meckel-Like Syndrome	Pulmonary hypoplasia	ORPHA:3032
Marshall-Smith Syndrome	Bowing of the long bones, Craniosynostosis, Accelerated skeletal maturation, Reduced bone mineral...	ORPHA:561
Scimitar Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal hemidiaphragm morphology, Abnorm...	ORPHA:185
Arthrogryposis, Distal, Type 2A	Hip contracture, Flexion contracture of finger, Inguinal hernia, Shoulder flexion contracture, Ky...	OMIM:193700
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten...	ORPHA:2414
Spondyloepiphyseal Dysplasia Congenita	Barrel-shaped chest, Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited ...	OMIM:183900
Grange Syndrome	Syndactyly, Increased susceptibility to fractures, Short palm	ORPHA:79094
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular...	OMIM:271700
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Pulmonary hypoplasia	OMIM:618174
Robinow Syndrome, Autosomal Recessive 1	Short neck, Micrognathia, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d...	OMIM:268310
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Res...	OMIM:601186
Walker-Warburg Syndrome	Metatarsus valgus, Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature...	ORPHA:899
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Shortenin...	OMIM:301900
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Osteopenia, Sandal gap, Pectus excavatum, Short toe, Delayed skeletal maturatio...	OMIM:617877
Osteoporosis-Pseudoglioma Syndrome	Barrel-shaped chest, Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widen...	OMIM:259770
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Thoracolumbar scoliosis, Aplasia of the left hemidiaphragm, ...	ORPHA:2437
Choanal Atresia	Respiratory distress, Subglottic stenosis, Recurrent respiratory infections, Cyanosis, Upper airw...	ORPHA:137914
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, Hemivertebrae, Abnormal f...	ORPHA:2180
Meacham Syndrome	Death in infancy, Aplasia of the right hemidiaphragm, Partial anomalous pulmonary venous return, ...	OMIM:608978
Renal Tubular Dysgenesis	Pulmonary hypoplasia	ORPHA:3033
Paget Disease Of Bone 6	Left ventricular hypertrophy, Osteoarthritis, Bone pain, Recurrent fractures	OMIM:616833
Combined Oxidative Phosphorylation Defect Type 23	Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Right v...	ORPHA:444013
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Thor...	OMIM:618019
Acute Lung Injury	Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon...	ORPHA:178320
Glycine Encephalopathy With Normal Serum Glycine	Joint laxity, Hip contracture, Exaggerated startle response, Overlapping toe, Apnea, Flexion cont...	OMIM:617301
Cranioectodermal Dysplasia 1	Ectodermal dysplasia, Narrow chest, Joint laxity, Rhizomelia, Sagittal craniosynostosis, Short to...	OMIM:218330
Seckel Syndrome 1	11 pairs of ribs, Ivory epiphyses, Sandal gap, Abnormal finger flexion crease, Micrognathia, Dela...	OMIM:210600
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Delayed skeletal maturation, Hypoplasia of the...	OMIM:617604
Campomelic Dysplasia	Respiratory distress, Thoracic scoliosis, Apnea, Cervical kyphosis, Anterior tibial bowing, Micro...	OMIM:114290
Holt-Oram Syndrome	Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Pectu...	OMIM:142900
Kagami-Ogata Syndrome	Diastasis recti, Kyphoscoliosis, Flexion contracture, Pulmonary hypoplasia, Pulmonary arterial hy...	OMIM:608149
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,...	OMIM:253010
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Respiratory failure...	OMIM:620296
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Opisthotonus, Respiratory failure, Neonatal death, P...	OMIM:605711
White Forelock With Malformations	Finger syndactyly, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, ...	ORPHA:2475
Microcephalic Primordial Dwarfism, Toriello Type	Delayed skeletal maturation, Abnormal rib morphology, Abnormal epiphysis morphology, Enamel hypop...	ORPHA:2643
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Recurrent fractures, Death in childhood	OMIM:620368
Microcephalic Primordial Dwarfism, Montreal Type	Prematurely aged appearance, Lipoatrophy, Micrognathia, Kyphosis, Reduced bone mineral density, P...	ORPHA:2617
Cranioectodermal Dysplasia 2	Joint laxity, Syndactyly, Inguinal hernia, Rhizomelia, Craniosynostosis, Short neck, Pectus excav...	OMIM:613610
Osteopetrosis, Autosomal Recessive 4	Increased bone mineral density, Recurrent fractures, Facial palsy, Osteopetrosis, Sclerotic verte...	OMIM:611490
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal dental enamel morphology, Rec...	ORPHA:1782
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Enlarged thorax, Short 5th me...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Enlarged thorax, Short 5th me...	ORPHA:99228
Monosomy X	Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Enlarged thorax, Short 5th me...	ORPHA:99226
Turner Syndrome	Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Enlarged thorax, Short 5th me...	ORPHA:881
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Congenital diaphragmatic hernia, Micrognathia, Osteolysis involving tarsal bones, Met...	OMIM:166300
Hereditary Continuous Muscle Fiber Activity	Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hand oligodactyly, Hydrops fetalis, Aplasia of the ulna	OMIM:276822
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Short metacarpal, Centrally nucleated skeletal muscle fibers, Coxa valga...	OMIM:248800
1Q41Q42 Microdeletion Syndrome	Pulmonary hypoplasia, Congenital diaphragmatic hernia	ORPHA:250999
Arthrogryposis, Distal, Type 4	Osteopenia, Torticollis, 2-5 finger cutaneous syndactyly, Kyphosis, Camptodactyly of 2nd-5th fing...	OMIM:609128
Renpenning Syndrome	Skeletal muscle atrophy, Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abnormal r...	ORPHA:3242
Multiple Mitochondrial Dysfunctions Syndrome 3	Arthrogryposis multiplex congenita, Respiratory failure, Respiratory insufficiency	OMIM:615330
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Respiratory distress, Respiratory failure requiring...	OMIM:211530
Seckel Syndrome 5	11 pairs of ribs, Micrognathia, Delayed skeletal maturation, Short middle phalanx of finger, Scol...	OMIM:613823
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Osteoporosis, Corneal scarring, Increased susceptibility to fractu...	ORPHA:90354
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Torticollis, Short neck, Macroglossia, Pulmonary hypoplasia, Increased variab...	OMIM:617022
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Osteopenia, Recurrent fractures, Delayed skeletal maturation, 2-3 toe syndactyly, Joint hyperflex...	ORPHA:2324
Hallermann-Streiff Syndrome	Recurrent fractures, Tracheomalacia, Micrognathia, Small hand, Respiratory insufficiency, Reduced...	ORPHA:2108
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Flexion contracture, Bone pain, Synovitis, Increas...	ORPHA:77297
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Congenital diaphragmatic hernia	OMIM:614100
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Pectus carinatu...	OMIM:253220
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Crumpled long bones, Death in infancy, Rhizomelia, Protrusio ...	OMIM:610682
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Micrognathia, Accelerated skeletal maturation, Flexion contracture, Pectus carinatum,...	OMIM:130070
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Generalized dystonia, Facial palsy, Writer's cramp, Hyp...	OMIM:128100
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Kyphosis, Hip dislocation, Scoliosis, Dystonia	OMIM:616756
Chiari Malformation Type Ii	Limb muscle weakness, Cyanosis, Inspiratory stridor, Opisthotonus	OMIM:207950
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fing...	OMIM:612394
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Arachnodactyly, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Scoliosis, Umbilical hern...	ORPHA:2181
Idiopathic Juvenile Osteoporosis	Recurrent fractures, Kyphosis, Bone pain, Osteoporosis, Vertebral compression fracture	ORPHA:85193
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Inguinal hernia, Recurrent fractures, Poor wound healing, Reduced bone mineral density, Scoliosis...	OMIM:619115
Multiple Pterygium Syndrome, Escobar Variant	Neonatal respiratory distress, Multiple joint contractures, Thoracolumbar scoliosis, Congenital d...	OMIM:265000
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal f...	ORPHA:175
Hepatic Veno-Occlusive Disease	Jaundice, Respiratory failure	ORPHA:890
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Decreased muscle mass, Recurrent fractures, Kyphoscolios...	OMIM:309583
Dyssegmental Dysplasia, Silverman-Handmaker Type	Neonatal death, Respiratory insufficiency, Pulmonary hypoplasia, Anisospondyly	OMIM:224410
Alg1-Cdg	Kyphosis, Respiratory failure, Limitation of joint mobility, Scoliosis	ORPHA:79327
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital p...	OMIM:611812
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co...	ORPHA:249
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Myopathy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death	OMIM:614922
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
3C Syndrome	Finger syndactyly, Inguinal hernia, Death in infancy, Short neck, Missing ribs, Kyphosis, Microgn...	ORPHA:7
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Tachypnea, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Neonatal resp...	ORPHA:79345
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Irregular acetabular roof, Irregular iliac crest, Abnormality of the epiph...	ORPHA:93316
Osteogenesis Imperfecta, Type I	Osteopenia, Biconcave flattened vertebrae, Recurrent fractures, Femoral bowing, Increased suscept...	OMIM:166200
Hereditary Methemoglobinemia	Athetosis, Exertional dyspnea, Cyanosis, Limb dystonia	ORPHA:621
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyly, Scoliosis	OMIM:126550
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Femur fra...	OMIM:259700
Masa Syndrome	Kyphosis, Adducted thumb, Hyperlordosis	OMIM:303350
Three M Syndrome 2	Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Delayed skeletal maturation, S...	OMIM:612921
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Head titubation, Kyphosis, Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Pulm...	OMIM:619708
Ck Syndrome	Micrognathia, Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Abnormal dig...	OMIM:300831
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Apneic episodes precipitated by illness, fatigue, stress, Choreoathetosis, Respiratory fa...	OMIM:312170
Hypergonadotropic Hypogonadism-Cataract Syndrome	Delayed skeletal maturation, Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2410
Focal Dermal Hypoplasia	Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa...	OMIM:305600
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Micrognathia, Pectus excavatum, Kyphosis, Increased nuchal translucency, Cervical ribs	ORPHA:77300
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Apnea, Micromelia, Short neck, Micrognathia, Coxa vara, Pectus carinatum...	ORPHA:800
Chromosome 1Q41-Q42 Deletion Syndrome	Vertebral segmentation defect, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Scoliosis	OMIM:612530
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Osteopenia, Pathologic fracture, Bone cyst	OMIM:618193
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Bowing of the legs, Bone pain, Reduced bone mineral density, Hypophosphatemic ricke...	ORPHA:157215
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion...	OMIM:618022
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura...	ORPHA:93317
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m...	ORPHA:2319
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cutaneous photosensitivity, Telangiectasia of the skin, Congenital diaphragmatic hernia, Retinal ...	ORPHA:438134
Autosomal Recessive Cutis Laxa Type 2A	Inguinal hernia, Congenital hip dislocation, Progeroid facial appearance, Increased susceptibilit...	ORPHA:357058
Fetal Encasement Syndrome	Bilateral trilobed lung, Congenital diaphragmatic hernia	OMIM:613630
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Paget Disease Of Bone 5, Juvenile-Onset	Barrel-shaped chest, Short humerus, Bowing of the long bones, Osteopenia, Increased bone mineral ...	OMIM:239000
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Pectus excavatum, Kyphosis, Pectus carinatum, Narrow chest, Scoliosis	OMIM:300676
Acrocallosal Syndrome	Abnormal clavicle morphology, Inguinal hernia, Congenital diaphragmatic hernia, Postaxial hand po...	ORPHA:36
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Narrow chest, Respiratory failure	ORPHA:1861
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Congenital hip dislocation, Apnea, Kyphosis, Pectus cari...	OMIM:619797
Spastic Paraplegia 46, Autosomal Recessive	Kyphosis, Hand tremor, Scoliosis, Head tremor, Limb muscle weakness, Lower limb muscle weakness	OMIM:614409
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea...	ORPHA:91359
Matthew-Wood Syndrome	Abnormal lung morphology, Pulmonary hypoplasia, Congenital diaphragmatic hernia	ORPHA:2470
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Opisthotonus, Pulmonary hypoplasia, Neonatal death, Arthrogryposis m...	OMIM:608013
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Tapered finger, Long fingers, Joint contracture of the 5th finger, Dystonia, Clinodactyly of the ...	OMIM:614407
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Phaver Syndrome	Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol...	ORPHA:2876
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Retinal telangiectasia, Metaphyseal sclerosis, Tremor, Oste...	OMIM:612199
Idiopathic Pulmonary Hemosiderosis	Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Restrictive ve...	ORPHA:99931
Osteopetrosis, Autosomal Recessive 2	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc...	OMIM:259710
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Kyphosis, Preaxial hand polyda...	ORPHA:3098
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Cdkl5-Deficiency Disorder	Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Abnormal respiratory system physio...	ORPHA:505652
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology	ORPHA:1506
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Recurrent fractures, Pectus carinatum	OMIM:618107
Boomerang Dysplasia	Aplasia/Hypoplasia of the lungs, Abnormally ossified vertebrae, Aplasia/Hypoplasia of the abdomin...	ORPHA:1263
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Respiratory failure, Flexion contracture, Camptodactyly of finger	ORPHA:1194
Mcdonough Syndrome	Micrognathia, Pectus excavatum, Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature, S...	ORPHA:2471
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Split hand, Apnea, Respiratory failure	ORPHA:168486
Hall-Riggs Syndrome	Metaphyseal dysplasia, Kyphosis, Delayed skeletal maturation, Osteoporosis, Irregular vertebral e...	OMIM:234250
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Skeletal muscle atrophy, Broad toe, Diastasis recti, Short neck, Pectus excavat...	ORPHA:488632
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Neonatal respiratory distress, Camptodactyly of finger, Aplasia/Hypoplas...	ORPHA:2990
Absence Of The Pulmonary Artery	Orthopnea, Recurrent respiratory infections, Cyanosis, Abnormal hemidiaphragm morphology, Nonprod...	ORPHA:980
Nephronophthisis 2	Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:602088
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response, Kyphosis, Flexion contracture, Distal amyotrophy, Scoliosis	OMIM:609541
Phosphoribosylaminoimidazole Carboxylase Deficiency	Short neck, Missing ribs, Lumbar hemivertebrae, Neonatal death, Clinodactyly of the 5th finger	OMIM:619859
Chst3-Related Skeletal Dysplasia	Barrel-shaped chest, Short metacarpal, Rhizomelia, Kyphoscoliosis, Flexion contracture, Abnormal ...	ORPHA:263463
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Recurrent respiratory infections, Pulmonary hypoplasia, Scoliosis, Webbed neck, Pulmonary artery ...	OMIM:618316
Pulmonary Capillary Hemangiomatosis	Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Dyspnea, Hemothorax, Pulmonary capillary ...	ORPHA:199241
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Hypoventilation, Apnea, Facial palsy, Kyphosis, Stridor, Scoliosis, Arth...	OMIM:617143
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Abnormal rib morphology, Short neck	ORPHA:2578
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch...	OMIM:607625
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, Genu valgum, Platyspon...	OMIM:619698
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox...	ORPHA:747
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Death in infancy, Progeroid facial appearance, Morgagni diap...	OMIM:613177
Mitochondrial Complex I Deficiency, Nuclear Type 11	Osteoporosis, Myopathy, Kyphosis, Scoliosis	OMIM:618234
Autism Spectrum Disorder Due To Auts2 Deficiency	Inguinal hernia, Micrognathia, Kyphosis, Congenital contracture, Umbilical hernia, Joint contract...	ORPHA:352490
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Hyperlordosis, Dyspnea, Rhabdomyolysis, Cardiorespirat...	ORPHA:26791
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Micrognathia, Coronal craniosynostosis, Reduced bone mineral den...	OMIM:112240
Frank-Ter Haar Syndrome	Inguinal hernia, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Abnor...	ORPHA:137834
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Bicoronal synostosis, Joint stiffness, Short long bone, Scoliosis, Short palm, ...	OMIM:619184
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pulmonary edema	ORPHA:70578
Waardenburg Syndrome Type 3	Camptodactyly of finger, Joint stiffness, Abnormal finger morphology, Cutaneous finger syndactyly...	ORPHA:896
Sandestig-Stefanova Syndrome	Rocker bottom foot, Short neck, Respiratory failure, Camptodactyly, Clinodactyly	OMIM:618804
Eosinophilic Fasciitis	Myositis, Fasciitis, Arthritis, Cellulitis, Muscular edema, Acrocyanosis	ORPHA:3165
Scedosporiosis	Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,...	ORPHA:449280
Intellectual Developmental Disorder, Autosomal Dominant 26	Inguinal hernia, Micrognathia, Kyphosis, Umbilical hernia, Scoliosis, Clinodactyly of the 5th fin...	OMIM:615834
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Respi...	ORPHA:308552
Classic Homocystinuria	Arachnodactyly, Recurrent fractures, Pulmonary embolism, Pectus excavatum, Kyphosis, Joint stiffn...	ORPHA:394
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure	OMIM:620166
Diaphragmatic Hernia 4, With Cardiovascular Defects	Neonatal respiratory distress, Aortopulmonary window, Coronal cleft vertebrae, Pulmonary arterial...	OMIM:620025
Amyotrophic Lateral Sclerosis	Dyspnea, Skeletal muscle atrophy, Respiratory failure, Abnormal respiratory system physiology	ORPHA:803
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglotti...	OMIM:617088
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure, Lower limb amyotrophy, Abnormal morphology of musculature of pharynx, Tituba...	ORPHA:280210
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnormal rib...	ORPHA:1163
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Finger syndactyly, Arachnodactyly, Camp...	ORPHA:2215
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Thin ribs, Slender long bone, Decreased calvarial ossification, A...	OMIM:618265
Atelosteogenesis Type I	Laryngeal stenosis, Laryngotracheal stenosis, Coronal cleft vertebrae, Platyspondyly, Pulmonary h...	ORPHA:1190
Thanatophoric Dysplasia Type 2	Micromelia, Kyphosis, Short thorax, Limitation of joint mobility, Respiratory insufficiency, Join...	ORPHA:93274
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Short neck, Micrognathia, Generalized joint laxity, Thoracic kyphosis, Hyperm...	ORPHA:508498
Pulmonary Alveolar Microlithiasis	Cyanosis, Bronchitis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tach...	ORPHA:60025
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia...	ORPHA:3035
Joubert Syndrome 21	Apnea, Dyspnea, Bell-shaped thorax, Respiratory failure, Short ribs, Chronic sinusitis	OMIM:615636
Ritscher-Schinzel Syndrome 1	Syndactyly, Micrognathia, Hemivertebrae, Missing ribs	OMIM:220210
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Hip contracture, Facial palsy, Rocker bottom foot, Short neck, Kyphosis, Achil...	OMIM:301041
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Asthma, Recurrent pneumonia, Bronchiectasis, Increased susceptibility to fractures, Scoliosis, Jo...	OMIM:619752
Charcot-Marie-Tooth Disease Type 1E	Hand muscle atrophy, Distal lower limb amyotrophy, Peroneal muscle weakness, Hand muscle weakness...	ORPHA:90658
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Rhabdomyolysis, Dehydration	OMIM:602199
Stüve-Wiedemann Syndrome	Respiratory distress, Osteopenia, Apnea, Micromelia, Metaphyseal widening, Flexion contracture, K...	ORPHA:3206
Cerebrocostomandibular Syndrome	Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ...	OMIM:117650
Congenital Myopathy 17	Respiratory tract infection, Respiratory insufficiency, Myopathy, Distal arthrogryposis, Pulmonar...	OMIM:618975
Classic Pantothenate Kinase-Associated Neurodegeneration	Generalized dystonia, Increased susceptibility to fractures, Opisthotonus, Aspiration pneumonia, ...	ORPHA:216866
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Myhre Syndrome	Short neck, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Short toe, Generalized muscle h...	OMIM:139210
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Re...	OMIM:609465
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Triphalangeal thumb, Short t...	OMIM:201170
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Sacral dimple, Abnormality of the vertebral column, Pulmonary hypoplasia, Neonatal death, Abnorma...	OMIM:314390
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Distal lower limb amyotrophy, Joint laxity, Sandal gap, Tremor, Kyphosis, Small hand, Short foot,...	OMIM:300354
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa...	ORPHA:1860
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Congenital hip dislocation, Left ventricular hypertrophy, Kyphoscoliosis, Limited ...	OMIM:300280
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Bilateral lung agenesis, Respiratory insufficiency	OMIM:601612
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Inguinal hernia, Proximal placement of thumb, Micromelia, Kyphos...	ORPHA:3121
Congenital Fibrinogen Deficiency	Cyanosis, Opisthotonus, Clubbing of fingers, Left ventricular hypertrophy, Bruising susceptibilit...	ORPHA:335
Xp22.13P22.2 Duplication Syndrome	Congenital diaphragmatic hernia, Tapered finger, Pectus excavatum, Short neck, Small hand, 2-3 to...	ORPHA:284180
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Limb joint contracture, Facial hypotonia, Coxa valga, Achilles tendon...	ORPHA:404454
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Micrognathia, Pectus excavatum, Cutaneous fin...	OMIM:606851
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Abnormal dental enamel morphology, Micr...	ORPHA:1798
Hypomelanosis Of Ito	Syndactyly, Kyphosis, Hand polydactyly, Radial deviation of finger, Scoliosis, Clinodactyly	OMIM:300337
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia,...	ORPHA:163966
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Telangiectasia of the skin, Lipodystrophy, Microgna...	OMIM:615381
Laryngotracheoesophageal Cleft Type 4	Respiratory insufficiency, Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:93941
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno...	ORPHA:555874
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Craniosynostosis, Split hand, Abnormal rib morpholog...	ORPHA:2145
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Rocker bottom foot, Recurrent fractures, Micrognathia, Tibial bowing, Congenital b...	ORPHA:453510
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic...	ORPHA:3258
Distal Triplication 15Q	Kyphosis, Flexion contracture, Pulmonary hypoplasia, Scoliosis, Camptodactyly	ORPHA:314588
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, O...	OMIM:260400
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Prolonged neonatal jaundice, Tapered finger	OMIM:618512
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay...	OMIM:300554
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ab...	ORPHA:3472
Acromesomelic Dysplasia 4	Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G...	OMIM:619636
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Respiratory distress, Micromelia, Short neck, Adducted thumb	ORPHA:50810
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Thin clavicles, Delayed skeletal maturation, ...	ORPHA:93324
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Limb joint contracture, Tremor, Respiratory failure, Limb hypertonia	OMIM:620327
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Cough, Joint hyperflexibility, ...	ORPHA:2314
Pentalogy Of Cantrell	Congenital diaphragmatic hernia, Pulmonary hypoplasia, Scoliosis	ORPHA:1335
Cat-Eye Syndrome	Hip dysplasia, Abnormal rib morphology	ORPHA:195
X-Linked Hypophosphatemia	Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora...	ORPHA:89936
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Lumbar hyperlordosis, Broad hallux, Short neck, Micrognathia, Slender finger, General...	ORPHA:251028
Gm1-Gangliosidosis, Type I	Death in infancy, Inguinal hernia, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Angioke...	OMIM:230500
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa...	OMIM:300106
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Micrognathia, Missing ribs, Abnormal rib morphology, Aplasia/Hypop...	ORPHA:3301
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Kyphosis, Split hand, Scoliosis, Foot dorsiflexor weakness	OMIM:618124
Hyperparathyroidism, Neonatal Severe	Calcinosis, Recurrent fractures, Dyspnea, Tachypnea, Narrow chest, Metaphyseal irregularity	OMIM:239200
Esophageal Atresia	Respiratory distress, Subglottic stenosis, Recurrent respiratory infections, Cyanosis, Bronchitis...	ORPHA:1199
Atypical Rett Syndrome	Sudden episodic apnea, Episodic tachypnea, Tremor, Kyphosis, Small hand, Short foot, Pill-rolling...	ORPHA:3095
Mucopolysaccharidosis, Type Iiia	Inguinal hernia, Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Umbil...	OMIM:252900
Wilson Disease	Back pain, Jaundice, Bone pain, Proximal muscle weakness in lower limbs, Arthritis, Pathologic fr...	ORPHA:905
Hurler-Scheie Syndrome	Inguinal hernia, Camptodactyly of finger, Thenar muscle atrophy, Micrognathia, Contracture of the...	OMIM:607015
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Pneumothorax, Pulmonary hypoplasia, Limb hypertonia	OMIM:620306
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
Campomelia, Cumming Type	Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Prematurely aged appea...	ORPHA:1318
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Delayed skeletal maturation...	ORPHA:77259
Osteosarcoma	Abnormal femoral metaphysis morphology, Osteolysis, Abnormal tibial metaphysis morphology, Pathol...	ORPHA:668
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Inguinal hernia, Craniofacial hyperostosis, Joint stiffness, Avascu...	ORPHA:581
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Sandal gap, Postaxial polydactyly, Micrognathia, Hyperlordosis, Kyphosis, Scoliosi...	OMIM:615761
Leigh Syndrome	Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency, Dystonia	OMIM:256000
Paternal Uniparental Disomy Of Chromosome 5	Polyhydramnios, Kyphoscoliosis, Rhizomelic arm shortening, Abnormal fibular epiphysis morphology,...	ORPHA:96190
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Short neck	ORPHA:2234
8p23.1 deletion syndrome	Congenital diaphragmatic hernia	DECIPHER:39
Menkes Disease	Bowing of the long bones, Inguinal hernia, Osteomyelitis, Tarsal synostosis, Recurrent fractures,...	ORPHA:565
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Micrognathia, Craniosynostosis, Rib fusion, Choreoathetosis, Han...	ORPHA:261197
Adamantinoma	Pathologic fracture, Bone pain	ORPHA:55881
Sandhoff Disease	Kyphosis, Recurrent respiratory infections	ORPHA:796
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Congenital muscular torticollis, Vertebral fusion, Vaginal hernia, Abnormal dental enamel morphol...	ORPHA:2916
Prune Belly Syndrome	Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Aplasia of the abdominal w...	ORPHA:2970
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Type 2 muscle fiber atrophy, Respiratory failure, Respiratory in...	OMIM:613845
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Facial hypotonia, Glycogen accumulation in muscle fiber lysosome...	ORPHA:365
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Jaundice, Pulmonary hypoplasia, Neonatal death	OMIM:231680
Ear-Patella-Short Stature Syndrome	Respiratory distress, Camptodactyly of finger, Aplastic clavicle, Micrognathia, Craniosynostosis,...	ORPHA:2554
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Arachnodactyly, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis...	ORPHA:1883
Immunodeficiency 54	Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency	OMIM:609981
Cerebrotendinous Xanthomatosis	Osteopenia, Resting tremor, Abnormality of the vertebral spinous processes, Dystonia, Prematurely...	ORPHA:909
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Short neck, Thickened cortex of long bones, Delayed skeletal maturation, Abnormal rib...	ORPHA:488434
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Respiratory failure	OMIM:619386
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ...	OMIM:134780
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Neona...	OMIM:620014
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Pectus carinatum, Kyphosis, Dystonia, Limb hypertonia	ORPHA:500180
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure, Generalized dystonia	ORPHA:70472
15Q24 Microdeletion Syndrome	Joint laxity, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morpho...	ORPHA:94065
Lopes-Maciel-Rodan Syndrome	Tremor, Kyphosis, Small hand, Short foot, Scoliosis, Dystonia	OMIM:617435
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Cyanosis, Postaxial polydactyly, Short n...	OMIM:619879
Arterial Tortuosity Syndrome	Respiratory distress, Inguinal hernia, Arachnodactyly, Rocker bottom foot, Prematurely aged appea...	ORPHA:3342
Kagami-Ogata Syndrome	Omphalocele, Respiratory failure requiring assisted ventilation, Inguinal hernia, Diastasis recti...	ORPHA:254519
Carnitine-Acylcarnitine Translocase Deficiency	Respiratory insufficiency, Rhabdomyolysis, Sudden episodic apnea, Cyanosis	ORPHA:159
Rett Syndrome	Skeletal muscle atrophy, Apnea, Intermittent hyperventilation, Kyphosis, Short foot, Scoliosis, D...	OMIM:312750
Breath-Holding Spells	Cyanosis	OMIM:607578
Mitochondrial Trifunctional Protein Deficiency 1	Myopathy, Respiratory failure, Rhabdomyolysis, Respiratory insufficiency	OMIM:609015
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Respiratory insufficiency, Knee flexion contracture, Weakness of facial musculature	OMIM:617239
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Inguinal hernia, Micrognathia, Pectus excavatum, Supernumerary ribs, Six lumbar...	OMIM:619122
Hurler Syndrome	Abnormal clavicle morphology, Death in infancy, Camptodactyly of finger, Short neck, Limitation o...	ORPHA:93473
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Torticollis, Tremor, Bradypnea, Respiratory failure, Death in childhood	OMIM:617186
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Incr...	OMIM:220110
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Apnea, Recurrent fractures, Craniosynostosis, Tremor, Abnormal rib morp...	ORPHA:667
Mosaic Trisomy 1	Thoracic scoliosis, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contr...	ORPHA:1692
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Opi...	ORPHA:508533
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Diastasis recti, Coat hanger sign of ribs, Umbilical hernia, Thoracic hypoplasia	ORPHA:254534
Schaaf-Yang Syndrome	Rocker bottom foot, Tapered finger, Kyphosis, Flexion contracture, Small hand, Short foot, Scolio...	OMIM:615547
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Sandal gap, Facial palsy, Absent thumb, Absent...	OMIM:607323
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Death in infancy, Neonatal respiratory distress, Tapered toe, Apnea, Tapered finger, Lo...	OMIM:608836
Neuropathy, Hereditary Sensory And Autonomic, Type V	Low back pain, Osteomyelitis, Recurrent fractures, Osteoarthritis, Hand tremor, Painless fracture...	OMIM:608654
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Multiple joint contractures, Camptodactyly of finger, Abnormal pleura morphology, Short neck, Apl...	ORPHA:2570
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Abnormal vertebral morphology	ORPHA:280195
Gaucher Disease, Type I	Epistaxis, Dyspnea, Bone pain, Pathologic fracture, Pulmonary arterial hypertension, Vertebral co...	OMIM:230800
Fucosidosis	Decreased muscle mass, Kyphosis, Anterior beaking of lumbar vertebrae, Acrocyanosis, Vascular ski...	ORPHA:349
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex, Short tubular bones of the hand, Co...	ORPHA:85184
Flynn-Aird Syndrome	Skeletal muscle atrophy, Joint stiffness, Kyphosis, Bone cyst, Scoliosis	ORPHA:2047
Familial Papillary Or Follicular Thyroid Carcinoma	Bone pain, Recurrent fractures, Chronic lung disease	ORPHA:319487
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology, Micrognathia	OMIM:601076
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Knee flexion contra...	OMIM:603387
Kenny-Caffey Syndrome, Type 1	Long clavicles, Thin clavicles, Delayed skeletal maturation, Small hand, Thin ribs, Short foot, S...	OMIM:244460
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Plethora, Dorsocervical fat pad, Osteoporosis, Proximal amyotrophy, Increased susceptibility to f...	ORPHA:189427
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Abnormal thorax morphol...	ORPHA:793
Mercury Poisoning	Respiratory distress, Tremor, Dyspnea, Respiratory failure, Interstitial pneumonitis, Dystonia	ORPHA:330021
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Respiratory insufficiency	ORPHA:3346
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Coxa v...	ORPHA:1517
Occipital Horn Syndrome	Osteopenia, Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short palm, Large iliac win...	ORPHA:198
Trisomy 1Q	Microretrognathia, Omphalocele, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenit...	ORPHA:261344
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Polyhydramnios, Short neck, Kyphosis, Cone-shaped epiphyses ...	ORPHA:420794
Mosaic Trisomy 8	Camptodactyly of finger, Short neck, Micrognathia, Patellar aplasia, Abnormal rib morphology, Lim...	ORPHA:96061
Mucopolysaccharidosis, Type Iiic	Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Hernia, Beaking o...	OMIM:252930
Congenital Heart Block	Pleural effusion, Cyanosis, Crackles	ORPHA:60041
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Exertional dyspnea, Cyanosis, Opisthotonus	OMIM:250800
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Micrognathia, Short neck, Kyphosis, Respiratory insufficiency, Scoliosis, Synost...	ORPHA:3191
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Micrognathia, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Dislocat...	OMIM:182212
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Erythema, Urticaria, Scoliosis	ORPHA:816
Renal Tubular Dysgenesis	Pulmonary hypoplasia, Respiratory insufficiency	OMIM:267430
Opsismodysplasia	Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor...	OMIM:258480
Genitopatellar Syndrome	Hip contracture, Apnea, Knee flexion contracture, Pulmonary hypoplasia, Arthrogryposis multiplex ...	ORPHA:85201
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Scapular winging, A...	OMIM:616914
Aicardi Syndrome	Block vertebrae, Missing ribs, Hiatus hernia, Rib fusion, Small hand, Multiple lipomas, Hip dyspl...	ORPHA:50
Congenital Heart Defects And Skeletal Malformations Syndrome	Arachnodactyly, Sandal gap, Congenital diaphragmatic hernia, Cutis marmorata, Pectus excavatum, K...	OMIM:617602
Stickler Syndrome, Type I	Arachnodactyly, Micrognathia, Pectus excavatum, Kyphosis, Irregular femoral epiphysis, Osteoarthr...	OMIM:108300
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Tremor, Dyspnea, Rhabdomyolysis, Respiratory insufficiency, Death in childhood,...	OMIM:610505
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Respiratory failure	OMIM:618240
Agnathia-Otocephaly Complex	Respiratory distress, Pulmonary hypoplasia, Tracheomalacia	OMIM:202650
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Sinusitis, Cutis marmorata, Eosinophilia, Recurrent intrapulmonary hemorrhage, Abnormal...	ORPHA:183
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Rhizomelia, Kyphoscoliosis, Short neck, Broad femoral neck, Micro...	OMIM:611209
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Abnormality of the musculature of the lower limbs, Kyphosis, Hip dislocation, Scoliosis, Dystonia	ORPHA:464282
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Short palm, Omphalocele, Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bon...	ORPHA:93271
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Exaggerated startle response, Apnea, Rocker bottom foot,...	ORPHA:521426
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Facial palsy, Micrognathia, Cranial hyperostosis, Flared metaphys...	OMIM:259720
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly	ORPHA:2786
Osteogenesis Imperfecta, Type Xx	Kyphoscoliosis, Multiple prenatal fractures, Asymmetry of the thorax, Narrow chest, Vertebral com...	OMIM:618644
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Becker Nevus Syndrome	Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis	OMIM:604919
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Tremor, Pulmonary hypoplasia, Choreoathetosis, Congenital diaphragmatic hernia	OMIM:614080
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Micrognathia, Abnorm...	ORPHA:2636
Maffucci Syndrome	Osteolysis, Bone pain, Recurrent fractures, Scoliosis	ORPHA:163634
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endpla...	OMIM:143095
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Pontine Tegmental Cap Dysplasia	Facial palsy, Head titubation, Rib fusion, Hemivertebrae, Scoliosis, Aspiration	OMIM:614688
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preax...	OMIM:210710
Congenitally Uncorrected Transposition Of The Great Arteries	Cyanosis, Tachypnea, Anomalous pulmonary venous return, Hypoxemia, Right ventricular hypertrophy	ORPHA:860
Laryngeal Abductor Paralysis	Stridor, Cyanosis	OMIM:150260
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Skeletal muscle atrophy, Jaundice, Osteomyelitis leading to amputation due ...	OMIM:256810
Hamamy Syndrome	Long toe, Syndactyly, Inguinal hernia, Osteopenia, Down-sloping shoulders, Recurrent fractures, T...	OMIM:611174
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Edema, Micrognathia, Pectus excavatum, Facial edema, Ly...	OMIM:616843
Peroxisome Biogenesis Disorder 1A (Zellweger)	Neonatal respiratory distress, Macroglossia, Prolonged neonatal jaundice, Pulmonary hypoplasia, D...	OMIM:214100
Mitochondrial Trifunctional Protein Deficiency	Rhabdomyolysis, Respiratory insufficiency, Skeletal myopathy, Respiratory failure, Left ventricul...	ORPHA:746
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Absent frontal sinuses, Micrognathia, Bone pain, Pectus carinatum, Hernia...	ORPHA:955
X-Linked Intellectual Disability, Cabezas Type	Inguinal hernia, Toe syndactyly, Sandal gap, Down-sloping shoulders, Camptodactyly of finger, Sho...	ORPHA:85293
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Arthrogryposis multiplex congenita, Pulmonary hypoplasia	ORPHA:86822
Hurler Syndrome	Inguinal hernia, Hypoplasia of the femoral head, Diaphyseal thickening, Short neck, Coxa valga, H...	OMIM:607014
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re...	ORPHA:209905
Congenital Disorder Of Glycosylation, Type Iib	Overlapping fingers, Thoracic scoliosis, Recurrent fractures, Hypoventilation	OMIM:606056
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis, Micrognathia, 2-3 toe syndactyly, Clubbing of toes, Opisthotonus, Clubbing of fingers	ORPHA:3304
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,...	OMIM:211350
Lethal Acantholytic Erosive Disorder	4-5 finger syndactyly, 2-3 finger syndactyly, Respiratory failure, Clinodactyly of the 5th finger...	ORPHA:158687
Peripartum Cardiomyopathy	Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Left ventricular h...	ORPHA:563
Dent Disease 1	Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay...	OMIM:300009
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Pectus excavatum, Facial edema...	OMIM:265300
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Respiratory failure, Opisthotonus	OMIM:610678
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure	OMIM:613435
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Pneumonia, Limited elbow movement, Limited wrist movement, Dyspnea, Delayed...	OMIM:617809
Rothmund-Thomson Syndrome	Calcinosis, Hypoplasia of the ulna, Osteopenia, Abnormal trabecular bone morphology, Telangiectas...	ORPHA:2909
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperlordosis, Kyphosis, Short toe, Delayed skeletal maturation, Keloids, Brachydactyly	ORPHA:3085
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Dea...	ORPHA:192
Fountain Syndrome	Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Cutis marmorata, Cran...	ORPHA:3219
Aicardi Syndrome	Block vertebrae, Proximal placement of thumb, Missing ribs, Hiatus hernia, Recurrent pneumonia, H...	OMIM:304050
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Inguinal hernia, Kyphoscoliosis, Short neck, Micrognathia, Absent front...	OMIM:102500
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Mac...	ORPHA:79255
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Joint hypermobility, Respiratory insufficiency, Thin ribs	ORPHA:456328
Pelger-Huet Anomaly	Foot dorsiflexor weakness, Kyphosis, Upper limb undergrowth, Lower limb hypertonia, Polydactyly, ...	OMIM:169400
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,...	OMIM:617821
Proximal 16P11.2 Microduplication Syndrome	Arachnodactyly, Congenital diaphragmatic hernia, Tremor, Hemivertebrae, Scoliosis	ORPHA:370079
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Recurrent fractures, Chronic lung disease	ORPHA:97290
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Sacral dimple, Inguinal hernia, Micrognathia, Pectus excavatum, Kyphosis, Umbilical hernia	OMIM:618272
Thoracoabdominal Syndrome	Pulmonary hypoplasia, Congenital diaphragmatic hernia	OMIM:313850
Dravet Syndrome	Limited knee extension, Cyanotic episode, Action tremor, Tibial torsion	ORPHA:33069
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Respiratory failure, Muscular dystrophy	OMIM:616538
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Finger syndactyly, Pectus excavatum, Kyphosis, Asymmetry of the thorax, ...	ORPHA:1969
Oligomeganephronia	Pulmonary venous occlusion, Pulmonary hypoplasia, Congenital diaphragmatic hernia	ORPHA:2260
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Joint hypermobility, Bruising susceptibility, Recurrent fractures, Poor wound healing	OMIM:619120
Otopalatodigital Syndrome Type 2	Omphalocele, Bowing of the long bones, Increased bone mineral density, Camptodactyly of finger, S...	ORPHA:90652
Renal-Hepatic-Pancreatic Dysplasia 2	Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia	OMIM:615415
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612287
Difference Of Sex Development-Intellectual Disability Syndrome	Short neck, Kyphosis, Short thorax, Genu valgum, Reduced bone mineral density, Spina bifida occulta	ORPHA:2983
Wiedemann-Steiner Syndrome	Aplasia/Hypoplasia of the ribs, Sacral dimple, Hyperextensibility at elbow, Rhizomelia, Tapered f...	ORPHA:319182
Peroxisome Biogenesis Disorder 4A (Zellweger)	Epiphyseal stippling, Respiratory failure, Death in infancy	OMIM:614862
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,...	OMIM:609945
Congenital Disorder Of Glycosylation, Type Il	Edema, Short neck, Pericardial effusion, Kyphosis, Hip dislocation, Ascites	OMIM:608776
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Ovoid vertebral bodies, ...	ORPHA:85167
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Apnea, Opisthotonus, Choreoathetosis, Limb hypertonia	OMIM:619580
Camurati-Engelmann Disease	Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnor...	ORPHA:1328
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Inguinal hernia, Micrognathia, Delayed skeletal maturation, Tachypnea, Bell-shaped thorax, Pulmon...	OMIM:614857
Zimmermann-Laband Syndrome 2	Macroglossia, Kyphosis, Short neck	OMIM:616455
Pulmonary Arteriovenous Malformation	Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hemorrhage, C...	ORPHA:2038
Acquired Methemoglobinemia	Hypoxemia, Dyspnea, Cyanosis, Respiratory distress	ORPHA:464453
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Hemifacial Atrophy, Progressive	Kyphosis, Short mandibular rami	OMIM:141300
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Apnea, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Kyp...	OMIM:617527
Complete Atrioventricular Septal Defect	Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p...	ORPHA:1329
Platyspondylic Dysplasia, Torrance Type	Platyspondyly, Pulmonary hypoplasia	ORPHA:85166
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Flexion contracture, Thin ribs	OMIM:614833
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Scoliosis	ORPHA:2429
Fryns Syndrome	Pulmonary hypoplasia, Congenital diaphragmatic hernia, Short neck	ORPHA:2059
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Short neck, Tremor, Kyphosis, Small hand, Short foot, Scoliosis, Shor...	ORPHA:238750
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Facial palsy, Hypercapnia, Pneumonia, Respira...	ORPHA:79138
Poems Syndrome	Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Metaphyseal sclerosis, Respiratory...	ORPHA:2905
Trisomy 13	Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho...	ORPHA:3378
Craniofrontonasal Syndrome	Joint laxity, Toe syndactyly, Broad hallux, Down-sloping shoulders, Congenital diaphragmatic hern...	OMIM:304110
Cartilage-Hair Hypoplasia	Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia ...	OMIM:250250
Gm1 Gangliosidosis	Inguinal hernia, Generalized dystonia, Camptodactyly of finger, Hyperlordosis, Tremor, Kyphosis, ...	ORPHA:354
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
X-Linked Intellectual Disability, Snyder Type	Long toe, Decreased muscle mass, Arachnodactyly, Recurrent fractures, Kyphoscoliosis, Pectus exca...	ORPHA:3063
Vacterl/Vater Association	Omphalocele, Finger syndactyly, Abnormal intervertebral disk morphology, Congenital diaphragmatic...	ORPHA:887
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Delayed skeletal maturation, Fibular hypoplasi...	OMIM:612447
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612286
Rothmund-Thomson Syndrome Type 2	Calcinosis, Osteopenia, Short metacarpal, Abnormal trabecular bone morphology, Aplasia/hypoplasia...	ORPHA:221016
Chromosome 13Q33-Q34 Deletion Syndrome	Left ventricular hypertrophy, Small thenar eminence, Pulmonary hypoplasia, Camptodactyly	OMIM:619148
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Vestibular areflexia, Respiratory failure, Osteopetrosis, Dystonia	ORPHA:3240
Clark-Baraitser syndrome	Joint laxity, Tapered finger, Kyphosis, Genu valgum, Scoliosis, Short palm	OMIM:300602
Kleefstra Syndrome 2	Kyphosis, Scoliosis	OMIM:617768
Atrial Septal Defect, Ostium Primum Type	Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi...	ORPHA:99106
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Criss-Cross Heart	Abnormal thorax morphology, Cyanosis, Respiratory insufficiency	ORPHA:1461
Lenz-Majewski Hyperostotic Dwarfism	Abnormal finger morphology, Symphalangism affecting the phalanges of the hand, Short palm, Elbow ...	ORPHA:2658
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Respiratory failure, Bruising susceptibility	ORPHA:3226
Raine Syndrome	Death in infancy, Short neck, Pulmonary hypoplasia, Neonatal death, Arthrogryposis multiplex cong...	OMIM:259775
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol...	ORPHA:2167
Fetal Akinesia Deformation Sequence 1	Hip contracture, Decreased muscle mass, Elbow contracture, Camptodactyly of finger, Short neck, C...	OMIM:208150
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Pathologic fracture, Bone cyst	OMIM:221770
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebra...	OMIM:612852
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema	ORPHA:542323
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Aplasia/Hypoplasia of the lungs, Respiratory insufficiency	ORPHA:1046
Craniometadiaphyseal Dysplasia	Osteopenia, Broad long bones, Coxa valga, Flared metaphysis, Genu valgum, Absent paranasal sinuse...	OMIM:269300
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Recurrent fractures, Kyphoscoliosis, Abnormal toe morphology, Abnormal finger morphol...	OMIM:163200
13Q12.3 Microdeletion Syndrome	Kyphoscoliosis, Congenital diaphragmatic hernia, Hip dysplasia, Camptodactyly, Hemihypotrophy of ...	ORPHA:412035
Distal 7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia	ORPHA:261102
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Hemivertebrae, Abnormal vertebral morphology	ORPHA:77298
Myhre Syndrome	Craniofacial hyperostosis, Brachydactyly, Inguinal hernia, Femoral hernia, Joint stiffness, Abnor...	ORPHA:2588
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Poor wound healing, Kyphosis, Osteoporosis, Facial erythema, Biconcave v...	OMIM:219090
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Dermatitis Herpetiformis	Urticaria, Erythema, Bone pain, Recurrent fractures	ORPHA:1656
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Sandal gap, Tapered finger, Pectus excavatum, Kyphosis, Tremor, Micrognathia, 2...	OMIM:617061
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Paroxysmal dystonia, Kyphosis, Respiratory insufficiency, Limb hypertonia	OMIM:619909
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Arachnodactyly, Micrognathia, Dyspnea, Respiratory failure	ORPHA:2707
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Scoliosis	ORPHA:85317
Mucolipidosis Type Ii	Hip contracture, Respiratory failure requiring assisted ventilation, Inguinal hernia, Diastasis r...	ORPHA:576
Cutis Laxa, Autosomal Recessive, Type Ia	Joint laxity, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Pectus excavatum,...	OMIM:219100
Beta-Thalassemia Intermedia	Osteopenia, Jaundice, Osteoporosis, Reduced bone mineral density, Increased susceptibility to fra...	ORPHA:231222
Hypoadrenocorticism, Familial	Cyanosis, Apnea	OMIM:240200
Xylt1-Cdg	Joint laxity, Coxa valga, Accelerated skeletal maturation, Flared metaphysis, Short long bone, Sh...	ORPHA:370930
Pagod Syndrome	Death in infancy, Congenital diaphragmatic hernia, Pulmonary artery hypoplasia, Pulmonary hypopla...	ORPHA:991
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Craniofacial osteosclerosis, Increased ...	OMIM:618476
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Erythema, Recurrent pneumo...	ORPHA:420741
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Thoracic scoliosis, Widened atrophic scar, Equinus calcaneus, Micrognathia, Prominent...	ORPHA:536532
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Congenital diaphragmatic hernia	ORPHA:2063
Leopard Syndrome 1	Scapular winging, Kyphoscoliosis, Missing ribs, Pectus excavatum, Short neck, Limited elbow movem...	OMIM:151100
Mucopolysaccharidosis, Type Iiib	Thickened ribs, Ovoid thoracolumbar vertebrae, Dense calvaria, Joint stiffness	OMIM:252920
Occipital Horn Syndrome	Joint laxity, Short humerus, Pelvic bone exostoses, Broad clavicles, Pectus excavatum, Kyphosis, ...	OMIM:304150
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Micrognathia, Kyphosis, Postaxial hand polydactyly, Scoliosis, B...	ORPHA:2075
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Excessive wrinkled skin, Recurrent fractures, Reduced bone mineral density	ORPHA:137608
H Syndrome	Hallux valgus, Lipodystrophy, Recurrent fractures, Delayed skeletal maturation, Bronchiectasis, O...	ORPHA:168569
Craniorachischisis	Omphalocele, Bifid sternum, Congenital diaphragmatic hernia	ORPHA:63260
Fontaine Progeroid Syndrome	Reduced subcutaneous adipose tissue, Death in infancy, Prominent superficial veins, Prematurely a...	OMIM:612289
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Tachypnea, Death in childhood	OMIM:615838
Baralle-Macken Syndrome	Kyphosis, Dystonia, Tapered finger	OMIM:619255
Sclerosteosis 1	Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Facial pals...	OMIM:269500
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy...	OMIM:600002
Lateral Meningocele Syndrome	Vertebral fusion, Decreased muscle mass, Inguinal hernia, Short neck, Pectus excavatum, Kyphosis,...	OMIM:130720
Jacobsen Syndrome	Short neck, Pectus excavatum, Missing ribs, Micrognathia, Flexion contracture, Clinodactyly of th...	OMIM:147791
Hsd10 Disease, Infantile Type	Choreoathetosis, Cyanosis, Dystonia	ORPHA:391428
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar...	ORPHA:99050
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Death in infancy, Cyanosis, Apnea, Ragged-red muscle fibers, Respiratory...	OMIM:252010
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Acute respiratory distress syndrome, Craniosynostosis, Micrognathia, Tapered fi...	OMIM:620005
Alagille Syndrome	Hypoplasia of the ulna, Telangiectasia of the skin, Micrognathia, Delayed skeletal maturation, Ab...	ORPHA:52
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology	OMIM:615709
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure, Muscular dystrophy	ORPHA:88618
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Apnea, Central hypoventilation	OMIM:618233
Pelizaeus-Merzbacher Disease	Recurrent respiratory infections, Kyphosis, Respiratory insufficiency, Choreoathetosis, Scoliosis...	ORPHA:702
Osteopetrosis, Autosomal Recessive 9	Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis	OMIM:620366
Arterial Tortuosity Syndrome	Joint laxity, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Progeroid facial ...	OMIM:208050
Aspartylglucosaminuria	Joint laxity, Kyphosis, Delayed skeletal maturation, Hypoplastic frontal sinuses, Angiokeratoma c...	OMIM:208400
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Cyanosis, Apnea, Macroglossia, Myopathy, Pleural effusion, Pulmonary edema	OMIM:261740
Microphthalmia, Syndromic 3	Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra...	OMIM:206900
Emanuel Syndrome	Torticollis, Sacral dimple, Congenital hip dislocation, Inguinal hernia, Congenital diaphragmatic...	OMIM:609029
Monosomy 9Q22.3	Rhabdomyosarcoma, Short neck, Pectus excavatum, Kyphosis, Accelerated skeletal maturation, Abnorm...	ORPHA:77301
Microphthalmia, Lenz Type	Abnormal clavicle morphology, Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Kyphosis...	ORPHA:568
Neuronal Intestinal Pseudoobstruction	Congenital diaphragmatic hernia	ORPHA:99811
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Pectus excavatum, Kyphosis, Flexion contracture, Bone cyst, Osteolysis, Abnormal...	ORPHA:3042
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Limb dystonia, Respiratory failure, Death in childhood, Opisthotonus	OMIM:619847
Infantile Krabbe Disease	Respiratory distress, Respiratory failure, Shoulder girdle muscle weakness, Opisthotonus	ORPHA:206436
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Skeletal muscle atrophy, Kyphosis, Osteoporosis, Bruising susceptibility	OMIM:219080
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Inguinal hernia, Congenital hip dislocation, Arachnodactyly, Protrusio ...	OMIM:225400
Listeriosis	Back pain, Respiratory distress, Miscarriage, Pneumonia, Tremor, Jaundice, Rhabdomyolysis, Respir...	ORPHA:533
Marfanoid Habitus With Situs Inversus	Hyperextensibility of the finger joints, Arachnodactyly, Kyphosis, Pectus carinatum, Scoliosis	OMIM:609008
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Hyperlordosis, Pectus excavatum, Kyphosis, Flushing, Myopathy, Scoliosis, Proximal ...	OMIM:162300
Mitochondrial Complex I Deficiency, Nuclear Type 32	Skeletal muscle atrophy, Respiratory failure, Death in childhood	OMIM:618252
Cerebrofaciothoracic Dysplasia	Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S...	ORPHA:1394
Aggressive Systemic Mastocytosis	Bone pain, Osteolysis, Osteoporosis, Urticaria, Pathologic fracture, Flushing	ORPHA:98850
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Missing ribs, Bifid distal p...	ORPHA:97360
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin...	OMIM:276820
3-Methylglutaconic Aciduria Type 7	Choreoathetosis, Respiratory failure, Pneumothorax, Opisthotonus	ORPHA:445038
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Inguinal hernia, Pectus excavatum, Delayed skeletal maturation, Tachypn...	OMIM:613658
Zaki Syndrome	Sacral dimple, Toe syndactyly, Congenital diaphragmatic hernia, Micrognathia, Long fingers, Ectro...	OMIM:619648
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Bicoronal synostosis, Sandal gap, Camptodactyly of finger, Rocker bottom foot, Mic...	OMIM:619951
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Truncus Arteriosus	Cyanosis, Pulmonary edema, Anomalous origin of one pulmonary artery from ascending aorta, Pulmona...	ORPHA:3384
Harrod Syndrome	Arachnodactyly, Kyphosis, Abnormal shoulder morphology, Joint hyperflexibility, Abnormal pelvic g...	ORPHA:2115
Nijmegen Breakage Syndrome	Skeletal muscle atrophy, Recurrent sinopulmonary infections, Recurrent respiratory infections, Rh...	ORPHA:647
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Choreoathetosis, Myopathy, Athetosis, Respi...	ORPHA:506
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee flexion contracture, C...	OMIM:151050
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,...	OMIM:618426
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Tremor, Jaundice, Hypopnea, Respiratory failure, Dystonia, Neonatal deat...	OMIM:617248
Brittle Cornea Syndrome 2	Inguinal hernia, Recurrent fractures, Umbilical hernia, Bruising susceptibility, Joint hypermobility	OMIM:614170
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Scoliosis	OMIM:610743
Jaberi-Elahi Syndrome	Joint stiffness, Tremor, Kyphosis, Pectus carinatum, Choreoathetosis, Scoliosis, Dystonia, Joint ...	OMIM:617988
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Scoliosis	OMIM:300861
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Congenital diaphragmatic hernia, Short neck,...	ORPHA:1001
Osteootohepatoenteric Syndrome	Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Asthma, Reduced bone mi...	OMIM:619377
Smith-Lemli-Opitz Syndrome	Cutis marmorata, Congenital diaphragmatic hernia, Short neck, Kyphosis, Abnormal lung lobation, A...	ORPHA:818
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly o...	OMIM:274000
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Pneumonia, Short finger, Tapered finger	ORPHA:1867
Porphyria, Congenital Erythropoietic	Osteopenia, Jaundice, Osteolysis, Corneal scarring, Atypical scarring of skin, Cutaneous photosen...	OMIM:263700
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Inguinal hernia, Short...	OMIM:252940
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Diamond-Blackfan Anemia 1	11 pairs of ribs, Short neck, Absent thumb, Short thumb, Hypoplastic ilia, Partial duplication of...	OMIM:105650
Buerger Disease	Acrocyanosis	ORPHA:36258
Fryns Syndrome	Short neck, Aplasia of the left hemidiaphragm, Stillbirth, Chylothorax, Pulmonary hypoplasia, Cam...	OMIM:229850
Emanuel Syndrome	Sacral dimple, Multiple joint contractures, Congenital hip dislocation, Inguinal hernia, Congenit...	ORPHA:96170
Diamond-Blackfan Anemia 10	Respiratory distress, Congenital diaphragmatic hernia, Micrognathia, Morgagni diaphragmatic herni...	OMIM:613309
Ogden Syndrome	Torticollis, Prematurely aged appearance, Apnea, Facial wrinkling, Short neck, Jaundice, Pulmonar...	OMIM:300855
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality o...	ORPHA:3186
Prader-Willi Syndrome	Osteopenia, Small hand, Osteoporosis, Increased susceptibility to fractures, Short foot, Hip dysp...	ORPHA:739
Isolated Right Ventricular Hypoplasia	Hypoxemia, Dyspnea, Cyanosis, Clubbing	ORPHA:439
Alpha-Mannosidosis, Infantile Form	Osteopenia, Thickened ribs, Short neck, Pectus carinatum, Cortical thickening of long bone diaphy...	ORPHA:309282
Simpson-Golabi-Behmel Syndrome	Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Accelerated skeletal mat...	ORPHA:373
Gaucher Disease	Osteopenia, Death in infancy, Increased bone mineral density, Osteomyelitis, Recurrent fractures,...	ORPHA:355
Pseudo-Torch Syndrome 2	Acute respiratory distress syndrome, Respiratory insufficiency, Thin ribs, Pleural effusion, Pete...	OMIM:617397
Autosomal Recessive Ataxia, Beauce Type	Skeletal muscle atrophy, Kyphosis, Arm dystonia, Scoliosis, Lower limb muscle weakness	ORPHA:88644
Renal Hypodysplasia/Aplasia 1	Pulmonary hypoplasia	OMIM:191830
Achondrogenesis	Aplasia/Hypoplasia of the lungs, Short neck	ORPHA:932
Osteopathia Striata With Cranial Sclerosis	Apnea, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, Clinodactyly of the 5th fi...	OMIM:300373
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Inguinal hernia, Death in infancy, Short...	ORPHA:2308
6Q Terminal Deletion Syndrome	Hallux valgus, Aplasia/Hypoplasia of the ribs, Joint laxity, Short neck, Micrognathia, Scoliosis,...	ORPHA:75857
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Omphalocele, Postaxial hand polydactyly, Hemivertebrae, 2-3 toe syndactyly, Pos...	OMIM:264480
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Joint stiffness, Split hand, Abnormal rib morpho...	ORPHA:1300
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Inguinal hernia, Cutis marmorata, Tape...	OMIM:303600
2Q31.1 Microdeletion Syndrome	Short neck, Micrognathia, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, C...	ORPHA:251014
Cerebrocostomandibular Syndrome	Death in infancy, Neonatal respiratory distress, Tracheomalacia, Micrognathia, Kyphosis, Posterio...	ORPHA:1393
Ferguson-Bonni Neurodevelopmental Syndrome	Pectus excavatum, Congenital diaphragmatic hernia, Micrognathia	OMIM:619699
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Femoral bowing, Narrow chest, Abnormal vertebral morphology, Elbow ankylosis...	ORPHA:95699
Ethylene Glycol Poisoning	Cyanosis, Facial palsy, Episodic respiratory distress, Tachypnea, Abnormal pattern of respiration...	ORPHA:31826
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Death in infancy, Short neck, Micrognathia, Flexion contracture, Elbow flexion c...	OMIM:300868
Trisomy 20P	Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Short neck, Micrognathia, Kyphosis, ...	ORPHA:261318
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Inguinal hernia, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis...	ORPHA:2789
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Bone pain, Rickets	OMIM:613388
19P13.12 Microdeletion Syndrome	Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Short neck, Kyphosis, Scoliosi...	ORPHA:254346
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Micrognathia, Osteoarthritis, Reduced bone mineral density, ...	ORPHA:740
Noonan Syndrome 14	Scapular winging, Short neck, Pectus excavatum, Kyphosis, Pectus carinatum, Clinodactyly, Bruisin...	OMIM:619745
Ulnar-Mammary Syndrome	Abnormal clavicle morphology, Abnormal morphology of the radius, Camptodactyly of finger, Abnorma...	ORPHA:3138
Gracile Bone Dysplasia	Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, ...	OMIM:602361
Tetrasomy 9P	Aplasia/Hypoplasia of the clavicles, Myositis, Hypoplastic scapulae, Sacral dimple, Abnormal dent...	ORPHA:3310
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Aplasia/Hypoplasia of the lungs	ORPHA:2204
Grange Syndrome	Syndactyly, Recurrent fractures, Increased susceptibility to fractures, Finger clinodactyly, Brac...	OMIM:602531
Niemann-Pick Disease Type C	Axial dystonia, Dystonia, Tremor, Jaundice, Aplasia/Hypoplasia of the abdominal wall musculature,...	ORPHA:646
Mccune-Albright Syndrome	Osteomalacia, Recurrent fractures, Accelerated skeletal maturation, Fibrous dysplasia of the bone...	ORPHA:562
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Truncal titubation, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger	ORPHA:88628
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Abnormal lung morphology, U...	ORPHA:141127
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Congenita...	ORPHA:280
Moebius Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Facia...	ORPHA:570
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Brachydactyly, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, H...	ORPHA:1005
Mucopolysaccharidosis, Type Ii	Inguinal hernia, Short neck, Kyphosis, Asthma, Split hand, Flexion contracture, Recurrent pneumon...	OMIM:309900
Monosomy 9P	Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Abnormality of the tars...	ORPHA:261112
Acrocephalopolydactylous Dysplasia	Pulmonary hypoplasia, Extrapulmonary sequestrum, Short neck	OMIM:200995
Sepsis In Premature Infants	Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ...	ORPHA:90051
Oculocerebrorenal Syndrome Of Lowe	Death in infancy, Inguinal hernia, Abnormal dental enamel morphology, Osteomalacia, Micrognathia,...	ORPHA:534
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Short neck, Micrognathia, Hemivertebrae, Narrow chest, I...	OMIM:213980
Dermatomyositis	Recurrent respiratory infections, Abnormal eosinophil morphology, Telangiectasia of the skin, Ery...	ORPHA:221
Costello Syndrome	Barrel-shaped chest, Hyperextensibility of the finger joints, Rhabdomyosarcoma, Short neck, Micro...	OMIM:218040
Fetal Alcohol Syndrome	Vertebral segmentation defect, Joint stiffness, Congenital diaphragmatic hernia, Micrognathia	ORPHA:1915
Autosomal Recessive Robinow Syndrome	Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5t...	ORPHA:1507
Halperin-Birk Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Hip dislocat...	OMIM:618651
Shashi-Pena Syndrome	Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2...	OMIM:617190
Floating-Harbor Syndrome	11 pairs of ribs, Joint laxity, Brachydactyly, Ivory epiphyses of the distal phalanges of the han...	OMIM:136140
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Petechiae	OMIM:602473
Teebi Hypertelorism Syndrome 1	Pulmonary hypoplasia	OMIM:145420
Restrictive Dermopathy 1	Prominent superficial blood vessels, Limb joint contracture, Kyphoscoliosis, Flexion contracture,...	OMIM:275210
Frank-Ter Haar Syndrome	Short palm, Osteopenia, Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kypho...	OMIM:249420
Familial Dysautonomia	Recurrent fractures, Osteolysis, Acrocyanosis, Scoliosis, Avascular necrosis	ORPHA:1764
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Death in chi...	OMIM:618278
Boutonneuse Fever	Respiratory failure, Petechiae	ORPHA:83313
Weill-Marchesani Syndrome 2	Short metacarpal, Lumbar hyperlordosis, Thin bony cortex, Joint stiffness, Delayed skeletal matur...	OMIM:608328
Cockayne Syndrome Type 2	Scarring, Progeroid facial appearance, Kyphosis, Flexion contracture, Scoliosis, Enamel hypoplasi...	ORPHA:90322
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Microg...	ORPHA:2062
Trisomy 9P	Sacral dimple, Short neck, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:236
Orofaciodigital Syndrome Xiv	Microretrognathia, Broad hallux, Micrognathia, Postaxial hand polydactyly, Preaxial polydactyly, ...	OMIM:615948
Tetraamelia Syndrome 1	Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Congenital diaphragmatic hernia	OMIM:273395
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Inguinal hernia, Micrognathia, Pectus excavatum, Kyphosis, Ectodermal dysplasia, Radial deviation...	OMIM:609944
1P36 Deletion Syndrome	11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Kyphosis, Rib fusion, Spinal canal st...	ORPHA:1606
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Facial hypotonia, Kyphosis, Scoliosis, Abnormality of muscle size	ORPHA:364028
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowin...	ORPHA:1652
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Sandal gap, Progeroid facial appearance, Decreased fibular diameter, Pectus excavatum...	OMIM:619127
Systemic Mastocytosis With Associated Hematologic Neoplasm	Bone pain, Osteoporosis, Increased susceptibility to fractures, Urticaria, Flushing	ORPHA:98849
Double Outlet Right Ventricle	Pulmonary artery atresia, Cyanosis, Tachypnea	ORPHA:3426
Trisomy 18	Microretrognathia, Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Postaxi...	ORPHA:3380
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the lungs, EMG: myopathic abnormalities	ORPHA:2549
Dpagt1-Cdg	Tremor, Flexion contracture, Pulmonary hypoplasia, Scoliosis, Camptodactyly	ORPHA:86309
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Osteomalacia, Kyphosis, Hip dislocation, Rickets, Corneal scarring, Genu...	OMIM:309000
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Tapered finger, Pectus excavatum, Kyphosis, Unilateral radial aplasia, Partial absence of thumb, ...	ORPHA:476126
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Apnea	OMIM:261680
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Proximal placement of thumb, Congenital diaphragmatic hernia, Short neck, T...	ORPHA:251071
Prader-Willi Syndrome	Osteopenia, Syndactyly, Decreased muscle mass, Hypoventilation, Kyphosis, Acromicria, Small hand,...	OMIM:176270
Hallermann-Streiff Syndrome	Hyperlordosis, Pectus excavatum, Micrognathia, Metaphyseal widening, Recurrent pneumonia, Thin ri...	OMIM:234100
Pseudoxanthoma Elasticum, Forme Fruste	Peau d'orange, Kyphosis, Abnormal sternum morphology, Scoliosis	OMIM:177850
Myasthenia Gravis	Dyspnea, Myositis, Acrocyanosis	ORPHA:589
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Hypoventilation, Kyphosis, Recurrent pneumonia, Elbow flexion contracture, Genu ...	OMIM:618493
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Limitation of joint mobility, Urticaria, Arthritis, Acrocyanosis, Purpura	ORPHA:343
Schinzel-Giedion Syndrome	Respiratory distress, Sacrococcygeal teratoma, Kyphoscoliosis, Short neck, Recurrent pneumonia, M...	ORPHA:798
Weill-Marchesani Syndrome 1	Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Scoliosis, Broad ...	OMIM:277600
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Inguinal hernia, Overlapping toe, Kyphosis, Recurrent pneumonia, Deviation of ...	ORPHA:464738
Postencephalitic Parkinsonism	Resting tremor, Camptocormia, Oculogyric crisis, Kyphosis, Abnormal respiratory system physiology...	ORPHA:97349
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Neonatal death, Pulmonary hypoplasia	OMIM:263200
Vacterl With Hydrocephalus	Absence of the sacrum, Hemivertebrae, Pulmonary hypoplasia, Abnormal form of the vertebral bodies	ORPHA:3412
Marfan Syndrome	Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Arthralgia/arthritis, Arachnodactyly, Protr...	ORPHA:558
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Proximal placement of thumb	OMIM:615433
Lysinuric Protein Intolerance	Skeletal muscle atrophy, Recurrent fractures, Delayed skeletal maturation, Osteoporosis, Respirat...	OMIM:222700
2P15P16.1 Microdeletion Syndrome	Inguinal hernia, Sandal gap, Camptodactyly of finger, Facial palsy, Tapered finger, Pectus excava...	ORPHA:261349
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Thoracolumbar scoliosis, Micrognathia, Hyperlordosis, Kyphosis, Small hand, Genu valgum, Short fo...	OMIM:618443
Cowden Syndrome 5	Micrognathia, Pectus excavatum, Kyphosis, Scoliosis, Subcutaneous lipoma, Intention tremor	OMIM:615108
Schisis Association	Omphalocele, Congenital diaphragmatic hernia, Micromelia	ORPHA:63862
Kbg Syndrome	Vertebral fusion, Syndactyly, Short neck, Delayed skeletal maturation, Rib fusion, Vertebral arch...	OMIM:148050
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Kyphosis, Asthma, Flexion contracture, Small hand, Short foot, Hip dysplasia, Scoliosis	ORPHA:500055
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Inguinal hernia, Pneumothorax, Hip dislocation, Recurrent pneumonia, Respiratory in...	ORPHA:90349
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Pectus excavatum, Kyphosis, Hypotrophy of the small hand muscles...	OMIM:610443
Gaucher Disease Type 3	Increased bone mineral density, Delayed skeletal maturation, Bone pain, Osteolysis, Increased sus...	ORPHA:77261
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Congenital diaphragmatic hernia, Micrognathia	OMIM:606164
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,...	ORPHA:99103
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous...	ORPHA:99104
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Coxa valga,...	ORPHA:263508
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Tarsal synostosis, Aplastic clavicle, Micrognathia, Abnormal dental...	ORPHA:85199
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Delayed skeletal maturation, Cyanosis, Osteoporosis	ORPHA:2326
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Delayed skeletal maturation, Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2235
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent...	OMIM:619557
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Microretrognathia, Osteopenia, Sacral dimple, Short neck, Pectus excavatum, Kyphosis, Tremor, Pro...	OMIM:300966
Fraser Syndrome 2	Respiratory failure, Short thorax, Cutaneous syndactyly, Short neck	OMIM:617666
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Pneumonia, Bowing of the legs, Hypoplastic ilia, Kyphosis, Pectus carinatu...	ORPHA:1855
Neu-Laxova Syndrome 1	Short neck, Yellow subcutaneous tissue covered by thin, scaly skin, Stillbirth, Pulmonary hypopla...	OMIM:256520
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Tapered finger, Micrognathia, Kyphosis, Joint hyperflexibility, Scoliosis, Metatarsus...	ORPHA:2479
Abetalipoproteinemia	Osteopenia, Kyphoscoliosis, Myopathy, Respiratory failure, Distal lower limb muscle weakness	ORPHA:14
Foxg1 Syndrome Due To 14Q12 Microdeletion	Macroglossia, Kyphosis, Palpebral edema, Scoliosis	ORPHA:261144
Renal Agenesis, Bilateral	Abnormal sacrum morphology, Pulmonary hypoplasia	ORPHA:1848
Ataxia-Telangiectasia-Like Disorder 2	Conjunctival telangiectasia, Progeroid facial appearance, Congenital diaphragmatic hernia, Cutane...	OMIM:615919
Meckel Syndrome, Type 6	Bilobed right lung, Pulmonary hypoplasia	OMIM:612284
Pitt-Hopkins Syndrome	Tapered finger, Short neck, Hiatus hernia, Broad fingertip, Short metatarsal, Small hand, Finger ...	ORPHA:2896
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Kyphosis, Recurrent pneumonia, 2-3 toe syndactyly, Pectus carinatum, Scoliosis, ...	OMIM:616449
Cowden Syndrome 6	Micrognathia, Pectus excavatum, Kyphosis, Scoliosis, Subcutaneous lipoma, Intention tremor	OMIM:615109
Alkaptonuria	Low back pain, Vertebral fusion, Kyphosis, Limited shoulder movement, Arthritis, Thickened Achill...	OMIM:203500
Classical Ehlers-Danlos Syndrome	Osteopenia, Incisional hernia, Osteoarthritis, Generalized joint laxity, Shoulder dislocation, Ec...	ORPHA:287
Koolen-De Vries Syndrome	Vertebral fusion, Arachnodactyly, Abnormal dental enamel morphology, Pectus excavatum, Kyphosis, ...	ORPHA:96169
Bloom Syndrome	Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstruction, Telangiectasia...	ORPHA:125
Aicardi-Goutieres Syndrome 1	Dystonia, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Pectus excavatum, Kyphosis, Microg...	ORPHA:193
Mccune-Albright Syndrome	Pathologic fracture, Polyostotic fibrous dysplasia, Craniofacial hyperostosis	OMIM:174800
Goodpasture Syndrome	Cyanosis, Crackles, Nodular pattern on pulmonary HRCT, Increased DLCO, Tachypnea, Restrictive ven...	OMIM:233450
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Erythema, Abnormal rib mo...	ORPHA:2907
Distal Renal Tubular Acidosis	Osteomalacia, Respiratory insufficiency due to muscle weakness, Bone pain, Rickets, Increased sus...	ORPHA:18
Stickler Syndrome	Skeletal muscle atrophy, Arachnodactyly, Protrusio acetabuli, Abnormal dental enamel morphology, ...	ORPHA:828
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Inguinal hernia, Tapered toe, Tapered finger, Asthma, Rib fusion, Clinodactyly of ...	ORPHA:544488
Limb Body Wall Complex	Ventral hernia, Broad hallux, Diastasis recti, Congenital diaphragmatic hernia, Aplasia/hypoplasi...	ORPHA:2369
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Elevated pulmonary artery pressure, Pulmonary...	OMIM:619351
Distal Deletion 15Q	Pulmonary hypoplasia, Congenital diaphragmatic hernia	ORPHA:1596
Hemorrhagic Fever-Renal Syndrome	Back pain, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchy...	ORPHA:340
Structural Heart Defects And Renal Anomalies Syndrome	Partial anomalous pulmonary venous return, Cyanosis, Death in infancy, Webbed neck	OMIM:617478
Aymé-Gripp Syndrome	Inguinal hernia, Rocker bottom foot, Congenital diaphragmatic hernia, Tapered finger, Craniosynos...	ORPHA:1272
Lathosterolosis	Toe syndactyly, Lumbosacral meningocele, Micrognathia, Postaxial hand polydactyly, Osteoporosis, ...	OMIM:607330
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Micrognathia, Kyphosi...	OMIM:153400
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Genu valgum	ORPHA:488627
Meier-Gorlin Syndrome 7	Vertebral segmentation defect, Pulmonary hypoplasia, Scoliosis	OMIM:617063
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Sacral dimple, Abnormal dental enamel morphology, Congenital diaphragmatic ...	ORPHA:2556
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Decreased sensitivity to hypoxemia, Acrocyanosis, Recurrent infections due to aspiration, Scoliosis	OMIM:223900
Malignant Atrophic Papulosis	Pleural effusion, Telangiectasia of the skin, Respiratory failure	ORPHA:679
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Spinal canal stenosis, Fused ce...	ORPHA:1724
Seckel Syndrome 9	Recurrent respiratory infections, Asthma, Pulmonary artery hypoplasia, Congenital diaphragmatic h...	OMIM:616777
Cardiospondylocarpofacial Syndrome	Joint laxity, Tarsal synostosis, Congenital diaphragmatic hernia, Delayed skeletal maturation, Ri...	OMIM:157800
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Tapered finger, Coxa valga, Kyphosis, Absent frontal sinuses, Hemivertebrae, Macr...	OMIM:301040
Isolated Anencephaly	Congenital diaphragmatic hernia	ORPHA:563609
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, Micrognathia, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydactyly, Sc...	ORPHA:404440
Renal-Hepatic-Pancreatic Dysplasia 1	Neonatal death, Pulmonary hypoplasia	OMIM:208540
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Partial anomalous pulmonary venous return, Scimitar anomaly, Pul...	OMIM:618280
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Contracture of the distal interphalangeal joint of the fingers, Cleft verte...	ORPHA:83617
Cardiac Diverticulum	Omphalocele, Diastasis recti, Aplasia/Hypoplasia of the sternum, Left ventricular hypertrophy, Um...	ORPHA:1686
Osteopetrosis, Autosomal Recessive 7	Multiple rib fractures, Death in infancy, Abnormal trabecular bone morphology, Femur fracture, Re...	OMIM:612301
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Osteopetrosis With Renal Tubular Acidosis	Recurrent fractures, Micrognathia, Pectus excavatum, Osteopetrosis, Pulmonary arterial hypertensi...	ORPHA:2785
Hyperoxaluria, Primary, Type I	Increased bone mineral density, Cutis marmorata, Bone pain, Pathologic fracture, Acrocyanosis	OMIM:259900
Cardiofacioneurodevelopmental Syndrome	Micrognathia, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly	OMIM:619123
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Absent thumb, Sagittal craniosynostosis, Ri...	ORPHA:500150
Hypermobile Ehlers-Danlos Syndrome	Inguinal hernia, Apnea, Genital hernia, Aplasia/Hypoplasia of the abdominal wall musculature, Hip...	ORPHA:285
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou...	OMIM:187300
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Cutis marmorata, Dystonia, Lipoatrophy, Tremor, Arthritis,...	ORPHA:51
Dyskeratosis Congenita	Telangiectasia of the skin, Recurrent fractures, Osteoporosis, Premature graying of hair, Scolios...	ORPHA:1775
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure, Pu...	ORPHA:731
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Short neck, Pectus excavatum, Kyphosis, Broad distal phalanx of the toes, Elbow ...	OMIM:619194
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Flexion contractur...	ORPHA:2908
Mosaic Trisomy 16	Abnormal lung morphology, Abnormality of the cervical spine, Pulmonary hypoplasia	ORPHA:1708
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Death in infancy, Tremor, Kyphosis, Abnormal subcutaneous fat tissue distribution, Fl...	OMIM:212065
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl...	ORPHA:31204
Verloove Vanhorick-Brubakk Syndrome	Aplasia/Hypoplasia of the lungs, Abnormal form of the vertebral bodies	ORPHA:3429
Kallmann Syndrome	Tremor, Delayed skeletal maturation, Recurrent fractures, Reduced bone mineral density	ORPHA:478
Paternal Uniparental Disomy Of Chromosome 1	Recurrent fractures, Abnormal dental enamel morphology, Craniosynostosis	ORPHA:251004
Intellectual Developmental Disorder, Autosomal Dominant 57	Craniosynostosis, Hyperventilation, Kyphosis, Contracture of the proximal interphalangeal joint o...	OMIM:618050
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:99125
Floating-Harbor Syndrome	11 pairs of ribs, Short metacarpal, Brachydactyly, Kyphoscoliosis, Short neck, Avascular necrosis...	ORPHA:2044
Aortic Arch Interruption	Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Left ventricular hypertrophy, E...	ORPHA:2299
Glycerol Kinase Deficiency	Myopathy, Osteoporosis, Muscular dystrophy, Pathologic fracture	OMIM:307030
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Epistaxis, Osteoporosis, Gout, Increased susceptibility to fractures, Pulmonary venou...	ORPHA:79259
Exudative Vitreoretinopathy 1	Recurrent fractures	OMIM:133780
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Abnormality of the t...	ORPHA:273
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Syndactyly, Sacral dimple, Short neck, Micrognathia, Kyphosis, Mesomelia, Scoliosis,...	OMIM:616894
Mycophenolate Mofetil Embryopathy	Congenital diaphragmatic hernia, Micrognathia, Bifid thoracic vertebrae, Foot polydactyly, Short ...	ORPHA:268249
Cowden Syndrome 1	Micrognathia, Pectus excavatum, Kyphosis, Scoliosis, Subcutaneous lipoma, Intention tremor	OMIM:158350
Meacham Syndrome	Congenital diaphragmatic hernia, Abnormal lung lobation, Anomalous pulmonary venous return, Aplas...	ORPHA:3097
Autosomal Recessive Amelia	Aplasia/Hypoplasia of the lungs	ORPHA:1027
Meckel Syndrome, Type 1	Webbed neck, Pulmonary hypoplasia, Camptodactyly of finger, Short neck	OMIM:249000
Restrictive Dermopathy	Thoracic kyphoscoliosis, Multiple joint contractures, Camptodactyly of finger, Pulmonary hypoplas...	ORPHA:1662
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy, Kyphosis, Ost...	ORPHA:2232
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Absence of the sacrum, Omphalocele, Congenital hip dislocation, Block verte...	OMIM:306955
Chromosome 15Q25 Deletion Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Short neck, Pectus excavatum, Long fingers	OMIM:614294
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Arachnodactyly	ORPHA:261222
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Abnormal fingertip morphology, Dyspnea, Pneumothorax, Osteoporos...	ORPHA:79404
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han...	OMIM:146510
Orofaciodigital Syndrome Type 4	Bilateral lung agenesis, Recurrent respiratory infections, Pulmonary hypoplasia, Camptodactyly of...	ORPHA:2753
Multiple Myeloma	Osteopenia, Vertebral compression fracture, Bone pain, Pathologic fracture, Pleural effusion	ORPHA:29073
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Respiratory insufficiency	OMIM:618329
Alexander Disease	Osteopenia, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Tremor, Respiratory insufficiency,...	ORPHA:58
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Central hypoventilation, Accelerated skeletal maturation, Asthma, Card...	ORPHA:293987
Fraser Syndrome	Subglottic stenosis, Laryngeal stenosis, Death in infancy, Abnormal lung lobation, Vertebral segm...	ORPHA:2052
Smith-Lemli-Opitz Syndrome	Death in infancy, Sacral dimple, Abnormal lung lobation, Severe photosensitivity, Pulmonary hypop...	OMIM:270400
Primary Hyperoxaluria	Cutis marmorata, Recurrent fractures, Generalized osteosclerosis, Bone pain, Acrocyanosis	ORPHA:416
C Syndrome	Omphalocele, Death in infancy, Sacral dimple, Toe syndactyly, Congenital diaphragmatic hernia, Sh...	ORPHA:1308
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Micrognathia, Abnormal form of the vertebral bodies, Vertebral fusion, Pse...	OMIM:194190
Doors Syndrome	11 pairs of ribs, Respiratory distress, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagit...	ORPHA:79500
Neurofibromatosis Type 1	Recurrent fractures, Joint stiffness, Kyphosis, Genu valgum, Slender long bone, Multiple lipomas,...	ORPHA:636
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Mucopolysaccharidosis Type 2, Severe Form	Inguinal hernia, Thickened ribs, Camptodactyly of finger, Diaphyseal thickening, Flexion contract...	ORPHA:217085
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th...	OMIM:618223
Mgat2-Cdg	Respiratory distress, Osteopenia, Pectus excavatum, Kyphosis, Scoliosis, Brachydactyly	ORPHA:79329
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thin bony cortex, Increased intervertebral space, Broad ischia, Diaphyseal...	OMIM:619727
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Joint laxity, Lumbar hyperlordosis, Facial hypotonia, Arachnodactyly, Kyphoscoliosis, Kyphosis, L...	ORPHA:457359
Heterotaxy, Visceral, 7, Autosomal	Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous...	OMIM:616749
Coccidioidomycosis	Respiratory distress, Osteomyelitis, Pneumonia, Cough, Osteolysis, Abnormal long bone morphology,...	ORPHA:228123
Mucopolysaccharidosis Type 2, Attenuated Form	Inguinal hernia, Thickened ribs, Camptodactyly of finger, Diaphyseal thickening, Flexion contract...	ORPHA:217093
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Kyphosis, Flexion contracture, Small hand, Osteoporosis, Short foot, Hip dysplasia, S...	ORPHA:398069
Wiedemann-Rautenstrauch Syndrome	Short neck, Micrognathia, Flexion contracture, Narrow chest, Generalized amyotrophy, Intention tr...	OMIM:264090
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Neonatal respiratory distress, Neonatal death, Congenital di...	OMIM:194080
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Kyphosis, Bruising susceptibility, Osteoporosis	OMIM:610475
Renal Agenesis	Pulmonary hypoplasia	ORPHA:411709
Histiocytoid Cardiomyopathy	Pulmonary edema, Cyanosis, Tachypnea, Cough	ORPHA:137675
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Camptodactyly of finger, Metatarsus adductus, Delayed skeletal maturation, Rib ...	OMIM:607872
Generalized Arterial Calcification Of Infancy	Respiratory distress, Cyanosis, Osteomalacia, Stippled calcification of the shoulder, Myocardial ...	ORPHA:51608
Oeis Complex	11 pairs of ribs, Absence of the sacrum, Omphalocele, Congenital hip dislocation, Sacral segmenta...	OMIM:258040
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Tapered finger, Hyperlordosis, Hip dislocation, Genu valgum, Hip dysplasia, Umbilical hernia, Bro...	OMIM:301066
Srd5A3-Cdg	Kyphosis, Abnormal sacrum morphology	ORPHA:324737
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Diastasis recti, Unilateral hypoplasia of pectoralis major muscle, Craniosynostosis, ...	ORPHA:1521
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Joint laxity, Sacral dimple, Anomaly of lower limb diaphyses, Arachnodactyly...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Joint laxity, Sacral dimple, Anomaly of lower limb diaphyses, Arachnodactyly...	ORPHA:363958
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Multiple joint contractures, Arachnodactyly, Toe syndactyly, Pectus excavatum, Kyp...	ORPHA:464306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	11 pairs of ribs, Muscular dystrophy	OMIM:615287
Shprintzen Omphalocele Syndrome	Omphalocele, Neonatal respiratory distress, Lumbar hyperlordosis, Kyphosis, Narrow chest, Scoliosis	OMIM:182210
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr...	OMIM:218600
Proteus Syndrome	Decreased muscle mass, Pulmonary embolism, Abnormal finger morphology, Abnormal form of the verte...	ORPHA:744
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Webbed neck, Cervical C2/C3 vertebral...	ORPHA:1780
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Prematurely aged appearance, Progeroid faci...	OMIM:216400
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Prematurely aged appearance, Progeroid facial appearance, Tr...	OMIM:133540
Iniencephaly	Omphalocele, Rhizomelia, Rocker bottom foot, Congenital diaphragmatic hernia, Hyperlordosis, Abse...	ORPHA:63259
Holoprosencephaly	Congenital diaphragmatic hernia, Short neck, Abnormal form of the vertebral bodies, Respiratory i...	ORPHA:2162
Pallister-Killian Syndrome	Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion co...	OMIM:601803
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis	OMIM:106300
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Neonatal respiratory distress, Micrognathia, Kyphosis, Increased femoral anteversion, Scoliosis, ...	OMIM:619005
Cardiac Valvular Dysplasia 2	Central cyanosis, Pulmonary artery dilatation	OMIM:620067
Zttk Syndrome	Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Hemivertebrae, Small hand, Short foo...	OMIM:617140
Cowden Syndrome	Pectus excavatum, Kyphosis, Bone cyst, Macroglossia, Scoliosis, Lipoma, Mucosal telangiectasiae, ...	ORPHA:201
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Tapered finger, Pectus excavatum, Kyphosis, Short toe, Short foot, Sco...	ORPHA:464311
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation	ORPHA:268943
Micro Syndrome	Kyphosis, Joint stiffness, Scoliosis, Micrognathia	ORPHA:2510
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Hemivertebrae, Pulmonary hypoplasia	ORPHA:1112
Kabuki Syndrome	Congenital diaphragmatic hernia, Vertebral clefting, Hemivertebrae, Small hand, Abnormal form of ...	ORPHA:2322
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ...	OMIM:610655
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the pha...	OMIM:219000
15Q14 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261190
Double Outlet Left Ventricle	Pulmonary artery stenosis, Cyanosis, Tachypnea	ORPHA:3427
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,...	OMIM:600376
Cutis Laxa, Autosomal Recessive, Type Ib	Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Micrognathia, Pectus excavatum,...	OMIM:614437
Alstrom Syndrome	Accelerated skeletal maturation, Kyphosis, Asthma, Recurrent pneumonia, Hyperostosis frontalis in...	OMIM:203800
16Q24.3 Microdeletion Syndrome	Proximal placement of thumb, Micrognathia, Kyphosis, Hip dysplasia, Scoliosis	ORPHA:261250
Dextrocardia	Congenital hip dislocation, Abnormal rib morphology	ORPHA:1666
Tetraploidy	Aplasia/Hypoplasia of the lungs	ORPHA:3305
Craniopharyngioma	Increased susceptibility to fractures	ORPHA:54595
Rett Syndrome, Congenital Variant	Kyphosis, Athetosis, Scoliosis, Dystonia, Aspiration	OMIM:613454
Tuberous Sclerosis Complex	Respiratory distress, Respiratory tract infection, Respiratory failure, Generalized abnormality o...	ORPHA:805
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Kyphosis, Bruising susceptibility, Osteoporosis	OMIM:610489
Yunis-Varon Syndrome	Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatar...	OMIM:216340
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Kyphosis, Osteoporosis, Scoliosis, Joint hypermobility	OMIM:619718
Mend Syndrome	Sacral dimple, Broad hallux, Overlapping toe, Micrognathia, Kyphosis, Long fingers, 2-3 toe synda...	ORPHA:401973
Genitopatellar Syndrome	Hip contracture, Pulmonary hypoplasia, Scoliosis, Knee flexion contracture	OMIM:606170
Primrose Syndrome	Hip contracture, Skeletal muscle atrophy, Joint hypermobility, Pectus excavatum, Kyphosis, Metata...	OMIM:259050
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Respiratory failure requiring assisted ventilation, Progressive pulmonary function im...	ORPHA:77293
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ...	OMIM:192350
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis, Lower limb hypertonia, Generalized dystonia, Foot dorsiflexor weakness	ORPHA:171629
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Kyphosis, Hypopnea, Restrictive ventilatory defect, Scoliosis, Aspiration...	OMIM:619482
Charge Syndrome	Facial palsy, Abnormal tibia morphology, Abnormal rib morphology, Hemivertebrae, Bifid femur, Res...	ORPHA:138
Blue Rubber Bleb Nevus	Pathologic fracture	OMIM:112200
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Bone pain, Osteomalacia, Increased susceptibility to fractures	ORPHA:3337
Multiple Endocrine Neoplasia Type 1	Multiple lipomas, Osteolysis, Increased susceptibility to fractures, Reduced bone mineral density	ORPHA:652
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Osteopenia, Pathologic fracture, Jaundice	OMIM:614231
Atelis Syndrome 2	Sacral dimple, Micrognathia, Kyphosis, Dyspnea, Clinodactyly	OMIM:620185
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Kyphosis, Flexion contracture, Premature graying of hair, Scoliosis, Ena...	ORPHA:90324
Lysinuric Protein Intolerance	Osteopenia, Delayed skeletal maturation, Osteoporosis, Respiratory insufficiency, Pathologic frac...	ORPHA:470
Mckusick-Kaufman Syndrome	Pulmonary hypoplasia	OMIM:236700
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Joint laxity, Kyphoscoliosis, Tremor, Kyphosis, Left ventricular noncompaction, Sc...	OMIM:300967
Viss Syndrome	Prominent superficial blood vessels, Micrognathia, Generalized joint laxity, Pectus carinatum, Em...	OMIM:619472
Williams Syndrome	Osteopenia, Micrognathia, Tremor, Abnormal form of the vertebral bodies, Vertebral segmentation d...	ORPHA:904
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Action tremor, Kyphosis, Contractur...	ORPHA:191
Eisenmenger Syndrome	Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Clubbing, Hypo...	ORPHA:97214
Microphthalmia, Syndromic 1	Lumbar hyperlordosis, Kyphoscoliosis, Webbed neck, Pulmonary hypoplasia, Scoliosis, Camptodactyly...	OMIM:309800
Diets-Jongmans Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Hip dysplasia, Umbilical hernia, Joint hypermob...	OMIM:618846
Craniofacial Microsomia 1	Block vertebrae, Hypoplasia of facial musculature, Hemivertebrae, Pulmonary hypoplasia, Scoliosis...	OMIM:164210
Mend Syndrome	Microretrognathia, Sacral dimple, Broad hallux, Overlapping toe, Micrognathia, Kyphosis, Long fin...	OMIM:300960
Hydrolethalus Syndrome 1	Omphalocele, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of ...	OMIM:236680
Alagille Syndrome 1	Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Prolonged neonatal jaundice, Butt...	OMIM:118450
Pallister-Hall Syndrome	Hemivertebrae, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Rib fusion, Respiratory i...	ORPHA:672
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Congenital diaphragmatic hernia, Cervical ribs, Hernia, Umbilical hernia	ORPHA:2255
Postinfectious Vasculitis	Palpable purpura, Cutis marmorata, Pneumonia, Vasculitis in the skin, Acrocyanosis, Recurrent str...	ORPHA:48435
Heart Defects, Congenital, And Other Congenital Anomalies	Inguinal hernia, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Cervical rib...	OMIM:600001
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Sacral dimple, Inguinal hernia, Tapered finger, Pectus excavatum, Kyphosis, Abnorm...	ORPHA:268261
Chromosome Xq26.3 Duplication Syndrome	Kyphosis, Accelerated skeletal maturation	OMIM:300942
Penile Agenesis	Bilateral lung agenesis, Pulmonary hypoplasia	ORPHA:49
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Joint laxity, Arachnodactyly, Hyperlordosis, Kyphosis, Scoliosis	OMIM:617011
Mowat-Wilson Syndrome	Hallux valgus, Syndactyly, Long toe, Broad hallux, Recurrent fractures, Tapered finger, Pectus ex...	ORPHA:2152
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Joint laxity, Torticollis, Isometric tremor, Osteomyelitis, Head titubation, Kyphosis,...	OMIM:619475
Sotos Syndrome	Joint laxity, Hip contracture, Sacrococcygeal teratoma, Inguinal hernia, Ankle flexion contractur...	ORPHA:821
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis	OMIM:619244
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Inguinal hernia, Abnormal pelvis bone morphology, Camptodactyly of finger, Abnormal ...	ORPHA:2273
Charge Syndrome	Omphalocele, Hypoplasia of the ulna, Down-sloping shoulders, Facial palsy, Micrognathia, Absent r...	OMIM:214800
17Q11 Microdeletion Syndrome	Osteopenia, Telangiectasia of the skin, Rhabdomyosarcoma, Bowing of the legs, Kyphosis, Osteoporo...	ORPHA:97685
Acromegaly	Palpebral edema, Macrodactyly, Tapered finger, Kyphosis, Spinal canal stenosis, Macroglossia, Joi...	ORPHA:963
Cardiac Valvular Dysplasia 1	Pulmonary artery atresia, Cyanosis	OMIM:212093
Somatomammotropinoma	Palpebral edema, Macrodactyly, Tapered finger, Kyphosis, Spinal canal stenosis, Macroglossia, Joi...	ORPHA:314769
Townes-Brocks Syndrome	Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha...	ORPHA:857
Ramon Syndrome	Angiokeratoma, Kyphosis, Telangiectasia, Scoliosis, Juvenile rheumatoid arthritis	OMIM:266270
Branchiooculofacial Syndrome	Facial palsy, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Short thumb, Prea...	OMIM:113620
Ellis Van Creveld Syndrome	Aplasia/Hypoplasia of the lungs, Emphysema	ORPHA:289
Congenitally Corrected Transposition Of The Great Arteries	Pulmonary artery atresia, Cyanosis	ORPHA:216694
Alström Syndrome	Respiratory distress, Thoracic scoliosis, Dorsocervical fat pad, Accelerated skeletal maturation,...	ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Myog

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Myog.

No publications found that use IMPC mice or data for Myog.

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MGI Allele	Allele Type	Produced
Myog^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Myog^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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