Not currently registered for phenotyping at IMPC

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

Gene Summary

doublesex and mab-3 related transcription factor 2

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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 Dmrt2 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.

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

The table below shows human diseases predicted to be associated to Dmrt2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck, Restric... OMIM:608681
Poland Syndrome
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Unilateral absence of pectoral... OMIM:173800
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... OMIM:277300
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Rib fusion, Supernumerary vertebral ossification centers... OMIM:609813
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Myelomeningocele, Hemivertebrae, Spina bifida occulta,... OMIM:613686
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Scoliosis, Posterior rib fusion, Spina bifida occulta,... ORPHA:1797
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Pectus carinatum... OMIM:122600
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib ... ORPHA:3268
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Rib fusion, Kyphosis, Anomalous pulmonary venous return, Congenita... ORPHA:2311
Becker Nevus Syndrome
Rib fusion, Kyphosis, Pectus excavatum, Scoliosis, Spina bifida occulta, Pectus carinatum, Should... ORPHA:64755
Respiratory distress, Myelomeningocele, Enlarged thorax, Abnormal vertebral segmentation and fusi... ORPHA:66637
Femoral-Facial Syndrome
Vertebral segmentation defect, Rib fusion, Sprengel anomaly, Coxa vara, Aplasia/Hypoplasia of the... ORPHA:1988
Stuve-Wiedemann Syndrome 2
Respiratory distress, Short long bone, Scoliosis, Neonatal death, Death in adolescence, Camptodac... OMIM:619751
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Widening of cervical spinal canal, Cervical vertebral bodies with decreased ante... OMIM:606842
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... ORPHA:2345
Heart Defects-Limb Shortening Syndrome
Narrow chest, Kyphosis, Accelerated skeletal maturation, Abnormal form of the vertebral bodies, A... ORPHA:1354
Cerebrofaciothoracic Dysplasia
Vertebral segmentation defect, Rib fusion, Bifid ribs, Sprengel anomaly, Narrow chest, Hemiverteb... ORPHA:1394
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... OMIM:156530
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Muscle fiber necrosis, Pectus excavatum, EMG: myopathic abnormalities, Camp... OMIM:614399
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion OMIM:221950
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Right ventricular hypertrophy, Abnorm... ORPHA:70589
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Irregular capital femoral epiphysis, Broa... OMIM:609052
Basal Cell Nevus Syndrome
Bifid ribs, Sprengel anomaly, Kyphoscoliosis, Abnormal sternum morphology, Short distal phalanx o... OMIM:109400
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Generalized... ORPHA:2790
Bronchogenic Cyst
Back pain, Abnormality of the diaphragm, Abnormal lumbar spine morphology, Abnormal pleura morpho... ORPHA:2357
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Short thorax, Death in infancy, Vertebral fusion, Short long bone,... OMIM:618845
Odontochondrodysplasia 1
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Pectus c... OMIM:184260
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Kyphoscoliosis, Abnormal muscle fiber morphology, Short ri... ORPHA:1145
Metatropic Dysplasia
Narrow chest, Kyphosis, Joint stiffness, Halberd-shaped pelvis, Clinodactyly of the 5th finger, C... ORPHA:2635
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pectus excavatum, Abnormal rib cage morphology, Hemivertebrae, Posterior rib fusion, Pulmonary ar... OMIM:608406
Brachydactyly, Type B1
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed... OMIM:113000
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Weakness of facial musculature, Short neck, Down-sloping shoulders, ... OMIM:265000
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Calf muscle h... ORPHA:254361
Sprengel Deformity
Sprengel anomaly, Neck muscle hypoplasia, Hemivertebrae, Shoulder muscle hypoplasia, Scoliosis, S... OMIM:184400
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Thin ribs, Neonatal death, Atelectasis, Death in infancy, Joint hypermobili... OMIM:300219
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Clinodactyly of the 5th finger, Arachnodactyly, Hemivertebrae, Abnormal for... ORPHA:2759
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic abnormalities,... OMIM:606612
Kyphomelic Dysplasia
Narrow chest, Joint stiffness, Undulate ribs, Anterior rib cupping, Abnormal form of the vertebra... ORPHA:1801
Acromesomelic Dysplasia, Maroteaux Type
Sprengel anomaly, Joint stiffness, Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal for... ORPHA:40
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... ORPHA:1836
Narrow chest, Respiratory distress, Cone-shaped epiphysis, Platyspondyly, Scoliosis, Square pelvi... ORPHA:166272
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Respiratory insufficiency due to muscle weakness, Flexion ... ORPHA:1143
Pontine Tegmental Cap Dysplasia
Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis, Aspiration, Facial palsy OMIM:614688
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Ground-glass opacification, Respiratory fa... ORPHA:2302
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Bifid ribs, Rib fusion, Beaking of vertebral bodies, Pectus excavatum, Sprengel anomaly, Narrow c... OMIM:213980
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Multiple Pterygium Syndrome, X-Linked
Amyoplasia, Multiple pterygia, Joint dislocation, Flexion contracture, Thin ribs, Abnormal cervic... OMIM:312150
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... OMIM:178110
Autosomal Recessive Multiple Pterygium Syndrome
Pectus excavatum, Aplasia/Hypoplasia of the abdominal wall musculature, Symphalangism affecting t... ORPHA:2990
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Hemivertebrae, Scoliosis, Missing ribs, Recurrent pn... OMIM:304050
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis,... OMIM:271520
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Kyphoscoliosis, Distal amyotrophy OMIM:619099
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... OMIM:118100
Multiple Pterygium Syndrome, Lethal Type
Amyoplasia, Multiple pterygia, Joint dislocation, Flexion contracture, Thin ribs, Abnormal cervic... OMIM:253290
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Irregular vertebral endplates, Hip contracture, Advanced ossification of carpal bones, Kyphoscoli... OMIM:618363
Brachyolmia, Maroteaux Type
Pectus excavatum, Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies, Short thorax ORPHA:93302
Spondylometaphyseal Dysplasia, Axial
Narrow chest, Coxa vara, Narrow greater sciatic notch, Platyspondyly, Anterior rib cupping, Scoli... OMIM:602271
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Thigh hypertrophy, Calf muscle hyper... ORPHA:86812
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Spina bifida occulta at L5, Spina bifida o... OMIM:102510
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Abnormal hip bone morphology, Short nec... ORPHA:2522
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Supraumbilical raphe, Bifid sternum OMIM:140850
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Small hand, Scoliosis, Missing ribs, Block vertebrae... ORPHA:50
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Short neck, Scoliosis, Fused cervical vertebrae OMIM:214300
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Multiple joint contractures, Pectus excavatum, Slender long bones with narr... ORPHA:536467
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies... ORPHA:2064
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormality of the ankles, Abnormal ilium morphology, Abnormal vertebral morpholog... ORPHA:163665
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Platyspondyly, Short neck, Abnormality of the ankles, Pectus carinatum, Gleno... ORPHA:239
Diastrophic Dysplasia
Abnormal clavicle morphology, Symphalangism affecting the phalanges of the hand, Ulnar deviation ... ORPHA:628
Myelomeningocele, Cervical spina bifida, Congenital diaphragmatic hernia, Anencephaly, Sirenomeli... ORPHA:63260
Thanatophoric Dysplasia, Type Ii
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... OMIM:187601
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Kniest Dysplasia
Enlarged joints, Respiratory distress, Pectus excavatum, Platyspondyly, Short neck, Hypoplastic p... OMIM:156550
Axial Spondylometaphyseal Dysplasia
Osteopenia, Platyspondyly, Upper limb undergrowth, Flared, irregular rib ends, Thoracic hypoplasi... ORPHA:168549
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Platyspondyly, Pectus carinatum, Ulnar deviation of finger, Abnormal epiphysis morphology, Abnorm... ORPHA:93359
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Barrel-shaped chest, Platyspondyly, Short neck, Pectus carinatum, Limitatio... OMIM:183900
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, Pelvic girdle muscle weakness... OMIM:607155
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short palm, Coxa vara, Short metacarpal, Osteoarthritis, Platyspondyly, Synostosis of carpal bone... ORPHA:93351
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Abnormal sacr... ORPHA:1436
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Kniest Dysplasia
Enlarged joints, Flexion contracture of finger, Platyspondyly, Short neck, Dumbbell-shaped long b... ORPHA:485
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal hip bone morphology, Short neck, Abnormal form of the vertebral bod... ORPHA:1486
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Platyspondyly, Short palm, Flared, irregular rib ends, Limitation of joint mobility ORPHA:168555
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Delayed epiphyseal ossification, Pectus excavatum, Spindle-shaped finger, Cutane... ORPHA:166024
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... ORPHA:174
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Short distal phalanx of finger, Anomalous pulmonary venous return,... ORPHA:1120
Ground-glass opacification, Abnormality on pulmonary function testing, Pneumonia, Rhinorrhea, Ost... ORPHA:1163
Robinow Syndrome, Autosomal Recessive 1
Pectus excavatum, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Short neck, Duplic... OMIM:268310
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused cervical vertebrae, T... OMIM:618469
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... OMIM:271650
Proximal 16P11.2 Microdeletion Syndrome
Rib fusion, Congenital diaphragmatic hernia, Craniosynostosis, Hand polydactyly, Scoliosis, Abnor... ORPHA:261197
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Spinal canal stenosis, Narrow chest, Kyphoscoliosis, Hypoplastic vertebral bodies, Pectus excavat... OMIM:263540
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Small hand, Scoliosis, Syndactyly, Abnormal thorax morphology, Clinodac... ORPHA:1445
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... OMIM:609616
Perching Syndrome
Respiratory distress, Flexion contracture, Camptodactyly OMIM:617055
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Weakness of facial muscul... ORPHA:254875
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Recurrent upper respiratory tract infe... ORPHA:60032
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... ORPHA:370010
Pulmonary Blastoma
Pulmonary infiltrates, Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Dyspnea ORPHA:64741
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Kyphosis, Pectus excavatum, Decreased calvarial ossification, Platyspondyly,... OMIM:259440
Kbg Syndrome
Vertebral fusion, Cutaneous syndactyly, Short neck, Scoliosis, Finger clinodactyly, Thoracic kyph... ORPHA:2332
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Increased intervertebral space, Bifid humerus, Horizontal sacrum, Respirato... OMIM:256050
Developmental And Speech Delay Due To Sox5 Deficiency
Butterfly vertebrae, Lumbar hyperlordosis, 2-3 toe syndactyly, Scoliosis, Thoracic kyphoscoliosis... ORPHA:313892
Frontometaphyseal Dysplasia 1
Craniosynostosis, Increased density of long bone diaphyses, Partial fusion of tarsals, Genu valgu... OMIM:305620
Coffin-Lowry Syndrome
Drumstick terminal phalanges, Kyphosis, Pectus excavatum, Short metacarpal, Hyperextensibility of... OMIM:303600
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Short 1st metacarpal, Resp... OMIM:135100
Multiple Synostoses Syndrome 2
Carpal synostosis, Vertebral fusion, Brachydactyly, Proximal symphalangism, Tarsal synostosis, Hu... OMIM:610017
Thoracolaryngopelvic Dysplasia
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Metaphyseal widenin... OMIM:187760
Acute Interstitial Pneumonia
Interlobular septal thickening, Pulmonary infiltrates, Subpleural honeycombing, Nodular pattern o... ORPHA:79126
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Corner fracture of metaphysis, Platyspondyly, Short neck, Biconcave vertebral bodies, Pectus cari... ORPHA:93315
Vertebral segmentation defect, Respiratory distress, Unossified sacrum, Tracheomalacia, Respirato... OMIM:608022
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Asthma, Pulmonary infiltrates, Hypoxemia, ... OMIM:610978
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Tachypnea, Abnormal thorax morphology, Atelectasis, Respiratory tract infection,... ORPHA:70587
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis, Recurrent resp... OMIM:619466
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Ground-glass opacification, Cough, Nodular pattern on pulmonary HRCT ORPHA:60026
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Kbg Syndrome
Rib fusion, Clinodactyly of the 5th finger, Ulnar deviation of the 2nd finger, Vertebral fusion, ... OMIM:148050
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platy... OMIM:184252
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Joint dislocation, Clinodactyly, Scoliosis OMIM:300934
Caudal Regression Syndrome
Joint stiffness, Hypoplastic vertebral bodies, Abnormal iliac wing morphology, Abnormal vertebral... ORPHA:3027
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Lumbar hyperlordosis, Pectus excavatum, Metaphyseal spurs, Short long bone, D... OMIM:608728
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... OMIM:607778
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscle fiber atrophy, Flexion contracture, Absent muscle fiber merosin, Macroglossia, Muscular dy... ORPHA:258
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Skeletal muscle hypertrophy, Irregular femoral epiphysis, Pectus carinatum, Bell-... OMIM:255710
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Tho... OMIM:309620
Short-Rib Thoracic Dysplasia 12
Narrow chest, Bowing of the legs, Short toe, Short ribs, Respiratory insufficiency, Short neck, B... OMIM:269860
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress, Joint swelling, Osteomyelitis, Osteopenia, Fused cervical vertebrae, Osteol... OMIM:612852
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beaking of lumbar ... OMIM:253000
Ciliary Dyskinesia, Primary, 21
Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Neonatal respiratory dis... OMIM:615294
Lethal Recessive Chondrodysplasia
Narrow chest, Respiratory distress, Accelerated skeletal maturation, Macroglossia, Generalized os... ORPHA:1423
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Clubbing, Multinucleated giant chon... OMIM:108720
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Hemivertebrae, Scoliosis,... ORPHA:2916
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Delayed cranial suture closure, Short neck, Dyspnea, Respiratory failure ORPHA:1832
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... ORPHA:90650
Kuskokwim Syndrome
Joint stiffness, Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Scoliosis, Abno... ORPHA:1149
Shwachman-Diamond Syndrome 1
Narrow chest, Respiratory distress, Coxa vara, Metaphyseal chondrodysplasia, Narrow greater sciat... OMIM:260400
Verheij Syndrome
Hemivertebrae, Short neck, Scoliosis, Short 5th finger, Clinodactyly, Hip dislocation, Vertebral ... OMIM:615583
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Dislocated radial head, Metaphyseal irregularity, Knee dislocation... OMIM:618395
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Nemaline bodies, Flexion contracture, Short neck, Thoracolumbar ... OMIM:616549
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Joint stiffness, Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow ... OMIM:608940
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... OMIM:617405
Aarskog-Scott Syndrome
Pectus excavatum, Genu recurvatum, Clinodactyly of the 5th finger, Abnormal vertebral segmentatio... ORPHA:915
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Narrow chest, Metaphyseal cupping, Thin ribs, Disc-like vertebral bodies, Short ribs, Decreased c... OMIM:151210
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Short neck, Abnormal rib morphology ORPHA:2578
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Platyspondyly, Short neck, Abnormal rib morphology, A... ORPHA:93267
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Short neck, Brachydac... OMIM:244600
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Narrow chest, Wide anterior fontanel, Short ribs, Camptodactyly of finger, Short neck, Respirator... ORPHA:2021
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... OMIM:184250
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Atelectasis, Chronic sinusitis, Bronchiectasis, Recurrent respirat... OMIM:253240
Autosomal Recessive Robinow Syndrome
Pectus excavatum, Short neck, Pectus carinatum, Sandal gap, Umbilical hernia, Sacral dimple, Elbo... ORPHA:1507
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress, Limitation of joint mobility ORPHA:2680
Juberg-Hayward Syndrome
Abnormality of finger, Hypoplasia of the radius, Scoliosis, Radioulnar synostosis, Abnormal rib m... ORPHA:2319
Jeune Syndrome
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Respiratory insufficienc... ORPHA:474
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Scoliosis, Death in infancy, Neonatal respiratory distress, Congenital cont... OMIM:615042
Ciliary Dyskinesia, Primary, 29
Atelectasis, Ciliary dyskinesia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Farber Disease
Respiratory distress, Joint swelling, Short toe, Abnormal sternum morphology, Flexion contracture... ORPHA:333
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... ORPHA:3320
Radio-Renal Syndrome
Respiratory distress, Chylothorax, Hypoplasia of the radius, Short neck, Brachydactyly, Abnormal ... ORPHA:3015
Spondylocarpotarsal Synostosis Syndrome
Scapular winging, Short neck, Pectus carinatum, Block vertebrae, Delayed skeletal maturation, Ver... OMIM:272460
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Aplasia/Hypoplasia... ORPHA:141152
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Nonproductive cough, Crackles, Parenchymal consolidation, Wheezing, Atelectasis, Abnormal... ORPHA:2902
Ciliary Dyskinesia, Primary, 33
Cough, Recurrent lower respiratory tract infections, Chronic rhinitis, Atelectasis, Recurrent bro... OMIM:616726
Holt-Oram Syndrome
Sprengel anomaly, Kyphosis, Joint stiffness, Anomalous pulmonary venous return, Pectus excavatum,... ORPHA:392
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Prominent sternum, Platyspondyly, Short neck, Cone-shaped capital femoral epiphysis, Small epiphy... OMIM:300232
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the humeroulnar joint, Hemivertebrae, Short neck, Abnormal form of the vertebral b... ORPHA:2234
Spinal canal stenosis, Sleep apnea, Short toe, Abnormality of femur morphology, Osteoarthritis, S... ORPHA:429
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Reduced bone mineral density, Abnormal hip bone morphology, Camp... ORPHA:1488
Short sternum, Osteopenia, Platyspondyly, Sclerotic scapulae, Broad ribs, Delayed closure of the ... OMIM:224300
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Atelectasis, Neonatal respiratory distress, Dys... OMIM:267450
Wildervanck Syndrome
Fused cervical vertebrae, Facial palsy, Short neck, Meningocele ORPHA:3456
Bruck Syndrome 1
Hip contracture, Kyphosis, Coxa vara, Platyspondyly, Scoliosis, Osteoporosis, Pectus carinatum, P... OMIM:259450
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Atelect... OMIM:615067
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Lateral clavicle hook, Long clavicles... OMIM:171480
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Atelectasis, Abnormal pulmonary ... ORPHA:70588
Fibrochondrogenesis 1
Platyspondyly, Short neck, Dumbbell-shaped long bone, Posterior rib cupping, Short long bone, Tho... OMIM:228520
Myopathy And Diabetes Mellitus
Respiratory distress, Weakness of facial musculature, Pelvic girdle muscle weakness, Weakness of ... ORPHA:2596
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Waardenburg Syndrome Type 3
Joint stiffness, Abnormality of finger, Tracheomalacia, Camptodactyly of finger, Synostosis of ca... ORPHA:896
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hallux, Spinal rigidit... ORPHA:337
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Prominent sternum, Platyspondyly, Genu valgum,... OMIM:253010
Meier-Gorlin Syndrome 1
Respiratory distress, Absent glenoid fossa, Hemivertebrae, Pectus carinatum, Genu valgum, Delayed... OMIM:224690
Phaver Syndrome
Myelomeningocele, Joint stiffness, Butterfly vertebrae, Camptodactyly of finger, Broad hallux pha... ORPHA:2876
Immunodeficiency 95
Respiratory distress, Ground-glass opacification, Recurrent viral upper respiratory tract infecti... OMIM:619773
Microphthalmia, Syndromic 3
Rib fusion, Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Supernumerary... OMIM:206900
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Premature osteoarthritis... ORPHA:93314
Vertebral segmentation defect, Posterior rib gap, Rib fusion, Kyphoscoliosis, Butterfly vertebrae... ORPHA:263508
Wolf-Hirschhorn Syndrome
Kyphosis, Rib fusion, Congenital diaphragmatic hernia, Split hand, Arachnodactyly, Preaxial hand ... ORPHA:280
Schneckenbecken Dysplasia
Narrow chest, Metaphyseal irregularity, Advanced ossification of carpal bones, Narrow vertebral i... OMIM:269250
Pleural Mesothelioma
Respiratory distress, Abnormal respiratory system physiology, Abnormal pleura morphology, Abnorma... ORPHA:50251
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Apneic epi... OMIM:254210
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Thoracic kyphosis, Hip dysplasia, Scoliosis ORPHA:530983
Melnick-Needles Syndrome
Narrow chest, Short distal phalanx of finger, Short clavicles, Cone-shaped epiphyses of the phala... ORPHA:2484
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Scoliosis, Joint hypermobility, Bowing of limbs du... OMIM:615220
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Respiratory distress, Arthrogryposis-like hand anomaly, Diaphragmatic eventration, Paradoxical re... OMIM:620011
Thanatophoric Dysplasia, Type I
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... OMIM:187600
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Kyphosis, Tibial bowing, Wide anterior fontanel, Thin ribs, Decreased calvar... OMIM:259420
Hyperparathyroidism, Transient Neonatal
Narrow chest, Respiratory distress, Thin ribs, Short ribs, Osteopenia, Femoral bowing OMIM:618188
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Short fifth metatarsal, Preaxial foot polydactyly, Dysplastic sacru... OMIM:134780
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Joint stiffness, Broad metacarpals, Short metatarsal, Genu recur... OMIM:151200
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Respiratory distress, Short ribs, Hypoplasia of the radius, Hypoplastic ilia, Posta... OMIM:617895
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Tibial bowing, Thin ribs, Respiratory insufficiency, Platyspondyly, Crumpled... OMIM:166210
Achondrogenesis Type 1B
Narrow chest, Short neck, Abnormal rib morphology, Short thorax, Short foot, Umbilical hernia, Ab... ORPHA:93298
1P36 Deletion Syndrome
Bifid ribs, Joint stiffness, Spinal canal stenosis, Kyphosis, Rib fusion, Clinodactyly of the 5th... ORPHA:1606
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Sleep apnea, Hand muscle weakness, Right ventricular hypertrophy, Hypoventi... ORPHA:98915
Pallister-Hall Syndrome
Rib fusion, Mesoaxial hand polydactyly, Mesoaxial foot polydactyly, Hemivertebrae, Syndactyly, Ne... OMIM:146510
Autosomal Dominant Hyper-Ige Syndrome
Recurrent fractures, Osteomyelitis, Craniosynostosis, Osteopenia, Scoliosis, Cough, Atelectasis, ... ORPHA:2314
Congenital Myasthenic Syndrome
Respiratory arrest, Congenital hip dislocation, Pectus carinatum, Sudden episodic apnea, Episodic... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Congenital hip dislocation, Pectus carinatum, Sudden episodic apnea, Episodic... ORPHA:98914
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates, Polyarticular arthritis OMIM:235900
Mosaic Trisomy 14
Abnormal rib morphology, Camptodactyly of finger, Short neck, Narrow chest ORPHA:1703
Achondrogenesis, Type Ii
Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Absent vertebral body mineraliz... OMIM:200610
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... OMIM:223800
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
White Forelock With Malformations
Sprengel anomaly, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal rib morphology, ... ORPHA:2475
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Hemivertebrae, Scoliosis, Abnormal form of the vertebral bodies, Brachydactyly,... ORPHA:2180
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encephalocele ORPHA:280195
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormal rib morphology, Apnea OMIM:300864
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Atelectasis, Recurrent bronchitis, Chronic sinusitis OMIM:300455
Gorlin Syndrome
Arachnodactyly, Hemivertebrae, Vertebral fusion, Scoliosis, Brachydactyly, Vertebral wedging ORPHA:377
Baller-Gerold Syndrome
Hypoplasia of the radius, Hypoplasia of the ulna, Sagittal craniosynostosis, Rib fusion, Carpal s... OMIM:218600
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Wheezing, Bronchitis, Atelectasis, Recurrent pneumonia, Pneumonia, Upp... ORPHA:3348
Lateral Meningocele Syndrome
Kyphosis, Sclerosis of skull base, Pectus excavatum, Abnormal rib cage morphology, Short neck, Bi... OMIM:130720
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Joint dislocation, Reduced bone mineral density, Platyspondyly, ... ORPHA:582
3M Syndrome
Congenital hip dislocation, Short neck, Hypoplasia of the ulna, Hypoplastic pelvis, Rocker bottom... ORPHA:2616
Spondyloepimetaphyseal Dysplasia, Shohat Type
Short neck, Platyspondyly, Abnormal epiphysis morphology, Generalized bone demineralization, Prem... ORPHA:93352
Brachytelephalangic Chondrodysplasia Punctata
C1-C2 subluxation, Epiphyseal stippling of toe phalanges, Cervical vertebral dysplasia, Epiphysea... ORPHA:79345
Sialidosis Type 2
Kyphosis, Flexion contracture, Osteoporosis, Pectus carinatum, Short thorax, Umbilical hernia, Dy... ORPHA:87876
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Respiratory distress, Apnea, Femoral bowing, Short 1st metaca... OMIM:114290
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, Butterfly vertebrae, Small hand, Osteopenia, Left ventricular hype... OMIM:611209
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Respiratory distress, Sleep apnea, Flexion contr... ORPHA:365
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Generalized joint laxity, ... OMIM:618000
Mucopolysaccharidosis Type 6
Joint stiffness, Kyphosis, Sinusitis, Epiphyseal dysplasia, Macroglossia, Recurrent upper respira... ORPHA:583
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Respiratory insufficiency, Abnormal form of the vertebral bodies ORPHA:93941
Gaucher Disease Type 2
Respiratory distress, Flexion contracture, Cough, Abnormal pattern of respiration, Recurrent resp... ORPHA:77260
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... ORPHA:79127
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Pectus excavatum, Acute infantile spinal muscular atrophy, Flexion contract... OMIM:271225
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Kyphosis, Ankle clonus, Respiratory insufficiency, Hand muscle atrophy, Sco... OMIM:211530
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrop... OMIM:605809
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Rib fusion, Asthma, Clinodactyly of the 5th finger, Tapered toe, Tapered finger, Sacral dimple ORPHA:544488
Achondrogenesis Type 1A
Narrow chest, Recurrent fractures, Multiple rib fractures, Short neck, Short thorax, Short foot, ... ORPHA:93299
Cardiospondylocarpofacial Syndrome
Rib fusion, Carpal synostosis, Congenital diaphragmatic hernia, Cone-shaped epiphysis, Scoliosis,... OMIM:157800
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Atelectasis... ORPHA:922
Chromosome 1P36 Deletion Syndrome, Distal
Bifid ribs, Rib fusion, Wide anterior fontanel, Clinodactyly of the 5th finger, Camptodactyly of ... OMIM:607872
Tetrasomy 5P
Respiratory distress, Overlapping toe, Wide anterior fontanel, Pectus excavatum, Clinodactyly of ... ORPHA:3309
Chst3-Related Skeletal Dysplasia
Enlarged joints, Kyphoscoliosis, Flexion contracture, Barrel-shaped chest, Scoliosis, Abnormal fo... ORPHA:263463
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia, Umbilical hernia OMIM:254120
Narrow chest, Recurrent fractures, Craniosynostosis, Respiratory insufficiency, Abnormal rib morp... ORPHA:436
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Thin ribs, Platyspondyly, 11 pair... OMIM:300863
Otopalatodigital Syndrome Type 2
Pulmonary hypoplasia, Bowing of the long bones, Encephalocele, Elbow dislocation, Carpal synostos... ORPHA:90652
Becker Nevus Syndrome
Hemivertebrae, Cervical ribs, Pectus excavatum, Scoliosis OMIM:604919
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Postaxial polydactyly, Respiratory insufficiency, Brachydact... OMIM:615633
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Metacarpophalangeal joint contracture, Flexion contracture, Finger joint hy... ORPHA:544503
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Clinodactyly of the 5th finger, Abnormal hip bone morphology, P... ORPHA:3068
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplasia of the radius, Hemivertebrae, Short neck, Rudimentary fi... ORPHA:958
Prune Belly Syndrome
Vertebral segmentation defect, Pectus excavatum, Congenital hip dislocation, Scoliosis, Aplasia o... ORPHA:2970
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Broad hallux, Fused cervical vertebrae, Broad thumb, Proximal/mid... OMIM:184460
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Craniosynostosis, Limitation of knee mobility, Progressive bowi... ORPHA:1826
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency, Increased variability in muscle fiber diameter, ... ORPHA:238329
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Left ventricular hypertrophy, Platyspondyly, Scoliosis, Broad clavic... OMIM:619698
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Overlapping toe, Flexion contracture, Delayed cranial suture closure, Overl... OMIM:619383
Cleidocranial Dysplasia 1
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Spondylolisthesis, Incr... OMIM:119600
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Narrow chest, Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Short dis... OMIM:617102
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Broad hallux phalanx, Sh... ORPHA:3082
Achondrogenesis, Type Ia
Hypoplastic sacrum, Hypoplasia of the radius, Barrel-shaped chest, Short neck, Pulmonary hypoplas... OMIM:200600
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Narrow chest, Short distal phalanx of finger, Abnormal bone ossification, Thin ribs, Triangular s... ORPHA:73230
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 1 fibers relatively ... OMIM:300580
Primary Ciliary Dyskinesia
Airway obstruction, Anomalous pulmonary venous return, Wheezing, Chronic rhinitis, Pulmonary situ... ORPHA:244
Moebius Syndrome
Facial diplegia, Respiratory distress, Short neck, Brachydactyly, Short phalanx of finger, Congen... OMIM:157900
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wide anterior fontanel, Increased bone mineral density, Osteopenia, Broad femoral neck, Wormian b... ORPHA:85184
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Aplasia of the ulna, Short sternum, Short metacarpal, Thin ribs, Short ribs... OMIM:266910
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Cervi... ORPHA:93346
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Abnormal rib morphology, Abnormality... ORPHA:3035
Congenital Diaphragmatic Hernia
Respiratory distress, Prominent sternum, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of t... ORPHA:2140
Axial Mesodermal Dysplasia Spectrum
Vertebral segmentation defect, Congenital diaphragmatic hernia, Short neck, Scoliosis, Abnormal f... ORPHA:1834
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Wolf-Hirschhorn Syndrome
Delayed skeletal maturation, Kyphosis, Rib fusion, Abnormal sternal ossification, Decreased muscl... OMIM:194190
Multiple Synostoses Syndrome 1
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalang... OMIM:186500
Grant Syndrome
Sprengel anomaly, Narrow chest, Joint dislocation, Abnormality of the glenoid fossa, Joint hyperf... ORPHA:2097
Lethal Kniest-Like Dysplasia
Narrow chest, Wide anterior fontanel, Hypoplastic vertebral bodies, Short ribs, Hypoplastic ilia,... ORPHA:2347
Gaucher Disease, Type I
Avascular necrosis, Pulmonary infiltrates, Abnormal pulmonary interstitial morphology, Pathologic... OMIM:230800
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Hypop... ORPHA:163966
Zttk Syndrome
Rib fusion, Kyphosis, Flexion contracture, Craniosynostosis, Small hand, Hemivertebrae, Scoliosis... OMIM:617140
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Short ribs, Short neck, Scoliosis, Biconcave vertebral bodies, Short humerus, Sh... OMIM:610319
Robinow Syndrome
Short distal phalanx of finger, Rib fusion, Kyphoscoliosis, Fused thoracic vertebrae, Hemivertebr... ORPHA:97360
Acrodysplasia Scoliosis
Vertebral segmentation defect, Brachydactyly, Scoliosis, Spina bifida occulta ORPHA:2956
Osteogenesis Imperfecta, Type Xviii
Recurrent fractures, Thin ribs, Femoral bowing, Biconcave vertebral bodies, Wormian bones, Joint ... OMIM:617952
Cole-Carpenter Syndrome
Kyphosis, Recurrent fractures, Scoliosis, Abnormal form of the vertebral bodies, Wormian bones, C... ORPHA:2050
Osteogenesis Imperfecta, Type Xvi
Narrow chest, Recurrent fractures, Short long bone, Multiple rib fractures, Osteopenia, Decreased... OMIM:616229
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Broad phalanx, Genu valgum, Irregular iliac crest, Short long bone, Metaphyseal irregularity, Sho... OMIM:250420
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Flexion contracture, Short ribs, Multiple rib fractures, Osteopenia, ... OMIM:616897
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Joint stiffness, Recurrent upper respiratory tract infections, Ovoid thoracolumba... OMIM:252900
Cleidocranial Dysplasia
Down-sloping shoulders, Tapered finger, Genu valgum, Abnormal epiphysis morphology, Clinodactyly ... ORPHA:1452
Poland Syndrome
Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Pectus carinatum, E... ORPHA:2911
Episodic Ataxia Type 1
Respiratory distress, Calf muscle hypertrophy, Kyphoscoliosis, Scoliosis ORPHA:37612
Greenberg Dysplasia
Anterior rib punctate calcifications, Short metacarpal, Horizontal sacrum, Barrel-shaped chest, P... OMIM:215140
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Pectus excavatum, Recurrent bronchopulmonary infections, Flexion contractur... OMIM:617303
Mucopolysaccharidosis, Type Vi
Prominent sternum, Pectus carinatum, Genu valgum, Broad ribs, Ovoid vertebral bodies, Pneumonia, ... OMIM:253200
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Increased muscle glycogen content, Macroglossia, Respiratory failure requir... ORPHA:254864
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Sprengel anomaly, Pectus excavatum, Butterfly vertebrae, Spina bifida occulta, Fused cervical ver... OMIM:619227
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Pectus excavatum, Thoracic scoliosis, Absent thumb, Aplasia... OMIM:142900
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Ovoid vertebral bodies, Short long bone... OMIM:618019
Cenani-Lenz Syndrome
Finger syndactyly, Hypoplasia of the radius, Synostosis of carpal bones, Scoliosis, Abnormal form... ORPHA:3258
Idiopathic Acute Eosinophilic Pneumonia
Pulmonary infiltrates, Respiratory insufficiency, Abnormal pleura morphology, Cough, Restrictive ... ORPHA:724
Osteogenesis Imperfecta, Type Viii
Recurrent fractures, Kyphosis, Tibial bowing, Radial bowing, Short metacarpal, Thin ribs, Wide an... OMIM:610915
Sarcoidosis, Susceptibility To, 2
Pulmonary infiltrates, Hypoxemia, Abnormal pulmonary interstitial morphology, Pulmonary arterial ... OMIM:612387
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Scapul... OMIM:617796
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Cough, Decreased DLCO, Ground-glass opacification, Club... OMIM:619611
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Short neck, 11 pairs of ribs, Adducted thumb ORPHA:50810
Three M Syndrome 2
Lumbar hyperlordosis, Thin ribs, Short neck, Short 5th finger, Pectus carinatum, Hyperlordosis, S... OMIM:612921
Osteogenesis Imperfecta, Type Vii
Pectus excavatum, Osteopenia, Decreased calvarial ossification, Femoral retroversion, Scoliosis, ... OMIM:610682
Holzgreve Syndrome
Joint stiffness, Abnormal morphology of ulna, Abnormally ossified vertebrae, Abnormal rib morphol... ORPHA:2167
Severe Congenital Nemaline Myopathy
Facial diplegia, Nemaline bodies, Thin ribs, Flexion contracture, Abnormality of the diaphragm, A... ORPHA:171430
Cartilage-Hair Hypoplasia
Accelerated skeletal maturation, Abnormally ossified vertebrae, Aplasia/Hypoplasia of the abdomin... ORPHA:175
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Accelerated skeletal maturation, Abnormal scapula morphology, Respiratory insuffici... ORPHA:93317
Scarf Syndrome
Diastasis recti, Short sternum, Craniosynostosis, Short neck, Abnormal form of the vertebral bodi... ORPHA:3134
Chitayat Syndrome
Respiratory distress, Pectus excavatum, Tracheomalacia, Brachydactyly, Abnormal pulmonary interst... OMIM:617180
Idiopathic Pulmonary Fibrosis
Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary interstitial morphology, Cough,... ORPHA:2032
Mosaic Trisomy 20
Spinal canal stenosis, Vertebral segmentation defect, Kyphosis, Narrow chest, Limited pronation/s... ORPHA:1724
Bardet-Biedl Syndrome 16
Bronchiolitis, Respiratory distress, Recurrent respiratory infections OMIM:615993
Kyphosis, Intervertebral disc degeneration, Thickened Achilles tendon, Arthritis, Limitation of k... OMIM:203500
Duane-Radial Ray Syndrome
Preaxial polydactyly, Absent thumb, Pectoralis hypoplasia, Small thenar eminence, Hypoplasia of t... OMIM:607323
Kniest-Like Dysplasia, Lethal
Narrow chest, Metaphyseal irregularity, Wide anterior fontanel, Hypoplastic vertebral bodies, Sho... OMIM:245190
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Diastasis recti, Butterfly vertebrae, Right ventricular hypertrophy, Pulmonary lymphangiectasia, ... OMIM:265380
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Kyphoscoliosis, Lumbar hyperlordosis, Hypoplasia of proximal radius, Metaphyseal dyspl... OMIM:184253
Koolen-De Vries Syndrome
Vertebral segmentation defect, Kyphosis, Pectus excavatum, Arachnodactyly, Scoliosis, Hip disloca... ORPHA:96169
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Airway obstruction, Reduced FEV1/FVC ratio, Bronc... ORPHA:1303
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Faciodigitogenital Syndrome, Autosomal Recessive
Pectus excavatum, Clinodactyly of the 5th finger, Abnormal rib cage morphology, Down-sloping shou... OMIM:227330
Sillence Syndrome
Platyspondyly, Abnormal vertebral morphology, Large tarsal bones, Back pain, Chess-pawn distal ph... ORPHA:3168
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum, Joint hypermo... OMIM:602196
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Narrow chest, Respiratory distress, Wide anterior fontanel, Tracheomalacia, Short neck, Brachydac... OMIM:217980
Myhre Syndrome
Cone-shaped epiphysis, Platyspondyly, Short neck, Broad ribs, Respiratory failure, Short long bon... OMIM:139210
Microcephalic Primordial Dwarfism, Toriello Type
Brachydactyly, Abnormal rib morphology, Abnormal epiphysis morphology, Delayed skeletal maturatio... ORPHA:2643
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Respiratory distress, Weakness of facial musculature, Type 1 fib... ORPHA:596
Avian Influenza
Respiratory distress, Pulmonary infiltrates, Miscarriage, Hypoxemia, Nonproductive cough, Tachypn... ORPHA:454836
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Joint stiffness, Recurrent upper respiratory tract infections, Ovoid thoracolumba... OMIM:252920
Osteogenesis Imperfecta, Type X
Narrow chest, Thin ribs, Generalized joint laxity, Osteopenia, Platyspondyly, Scoliosis, Chronic ... OMIM:613848
Cantú Syndrome
Narrow chest, Short distal phalanx of finger, Accelerated skeletal maturation, Broad hallux phala... ORPHA:1517
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Broad phalanx, Pectus excavatum, Platyspondyly, C1-C2 subluxation, Hip subluxation, Posterior rib... OMIM:271665
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormal rib morphology, Sprengel anomaly, Abnormality of the vertebral column OMIM:601076
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Joint stiffness, Kyphoscoliosis, Beaking of vertebral bodies, Recurrent upper res... OMIM:252930
Craniometadiaphyseal Dysplasia
Sclerosis of skull base, Wide anterior fontanel, Osteopenia, Flared metaphysis, Scoliosis, Wormia... OMIM:269300
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Arachnodactyly, Emphysema, Hip dislocation,... ORPHA:171719
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Wormian bones, Tapered finger, Short femoral neck, Fused cervical vertebrae, Fla... OMIM:617159
Scarf Syndrome
Diastasis recti, Short sternum, Coronal craniosynostosis, Barrel-shaped chest, Short neck, Abnorm... OMIM:312830
Osteoglophonic Dysplasia
Respiratory distress, Broad metacarpals, Broad phalanx, Craniosynostosis, Platyspondyly, Short ne... OMIM:166250
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... ORPHA:60033
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pulmonary infiltrates, Hypoxemia, Nonproductive cough, Pleural empyema, Acu... ORPHA:36238
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Thin ribs, Respiratory insufficiency, Death in infancy, Centrally nucleated ... OMIM:615368
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... OMIM:274000
Acromesomelic Dysplasia 4
Broad phalanx, Prominent sternum, Accelerated skeletal maturation, Platyspondyly, Broad finger, G... OMIM:619636
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Left ventricular noncompaction OMIM:613642
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Small hand, Muscular dystrophy, Upper limb undergrowth, Camptodactyly, Knee... OMIM:608799
Arnold-Chiari Malformation Type I
Cervical C2/C3 vertebral fusion, Central sleep apnea, Myelopathy, Scoliosis, Fused cervical verte... ORPHA:268882
Hurler Syndrome
Spinal canal stenosis, Abnormal diaphysis morphology, Abnormal clavicle morphology, Macroglossia,... ORPHA:93473
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Abnormal sternum morphology, Short ribs, Abnormal rib morphology, Postaxial... ORPHA:2519
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Myopathy ORPHA:26792
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad phalanx, Pectus excavatum, Short neck, Hypermobility of interphalangeal joints, Cervical he... ORPHA:508498
Campomelia, Cumming Type
Abnormally ossified vertebrae, Brachydactyly, Abnormal thorax morphology, Abnormal rib morphology... ORPHA:1318
Oculocerebrorenal Syndrome Of Lowe
Joint swelling, Joint stiffness, Kyphosis, Recurrent fractures, Abnormal metaphysis morphology, R... ORPHA:534
Cystic Echinococcosis
Asthma, Multiple pulmonary cysts, Abnormality of the diaphragm, Abnormal subpleural morphology, A... ORPHA:400
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Left ventricular hypertrophy, Pulmonary hypoplasia, Flexion contracture OMIM:616733
Vacterl Association With Hydrocephalus
Stillbirth, Absent thumb, Radial club hand, Respiratory insufficiency, Abnormality of the vertebr... OMIM:276950
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Wheezing, Cough, Ground-glass opa... ORPHA:1302
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Abnormally ossified vertebrae, Platyspondyly, Short neck, Flared femoral metaphy... ORPHA:1427
Microcephaly-Micromelia Syndrome
Narrow chest, Forearm undergrowth, Craniosynostosis, Short tibia, Short neck, Abnormal rib morpho... OMIM:251230
Koolen-De Vries Syndrome
Kyphosis, Pectus excavatum, Spondylolisthesis, Slender finger, Prominent fingertip pads, Prominen... OMIM:610443
Cole-Carpenter Syndrome 2
Kyphosis, Pectus excavatum, Thin ribs, Coronal craniosynostosis, Osteopenia, Platyspondyly, Wormi... OMIM:616294
Gm1-Gangliosidosis, Type I
Thickened ribs, Joint stiffness, Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bod... OMIM:230500
Vacterl/Vater Association
Vertebral segmentation defect, Congenital diaphragmatic hernia, Finger syndactyly, Anencephaly, A... ORPHA:887
Sclerosis of skull base, Enlarged thorax, Muscular edema, Unossified sacrum, Abnormal iliac wing ... ORPHA:3003
Short neck, Severe platyspondyly, Posterior rib cupping, Short long bone, Scoliosis, Hypoplastic ... OMIM:258480
Stuve-Wiedemann Syndrome 1
Enlarged joints, Apnea, Femoral bowing, Short neck, Ulnar deviation of finger, Pulmonary hypoplas... OMIM:601559
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Osteopenia, Scoliosis, Contractures of the large joints, Recurrent respirat... ORPHA:329178
Mosaic Trisomy 8
Vertebral segmentation defect, Narrow chest, Clinodactyly of the 5th finger, Camptodactyly of fin... ORPHA:96061
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... ORPHA:85167
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... OMIM:300106
Kagami-Ogata Syndrome
Diastasis recti, Kyphoscoliosis, Thin ribs, Flexion contracture, Long clavicles, Long fingers, Be... OMIM:608149
Autosomal Dominant Centronuclear Myopathy
Miscarriage, Thin ribs, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: my... ORPHA:169189
Lethal Congenital Contracture Syndrome 10
Narrow chest, Torticollis, Thoracic scoliosis, Adducted thumb, Short neck, Overlapping fingers, P... OMIM:617022
Simpson-Golabi-Behmel Syndrome
Pectus excavatum, Accelerated skeletal maturation, Aplasia/Hypoplasia of the abdominal wall muscu... ORPHA:373
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Intraalveolar phosp... OMIM:265120
Craniofaciofrontodigital Syndrome
Respiratory distress, Macroglossia, Finger joint hypermobility, Osteopenia, Scoliosis, Osteoporos... ORPHA:363705
Pallister-Hall Syndrome
Hemivertebrae, Umbilical hernia, Radial head subluxation, Polydactyly affecting the 4th finger, P... ORPHA:672
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Rib fusion, Kyphoscoliosis, Lumbar hyperlordosis, Absent thumb, Arachnodactyly, Hemivertebrae, Un... ORPHA:500150
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, Platyspondyly, Short neck, 11 pairs of ribs, Ge... OMIM:271640
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Thenar muscle atrophy, Abnormal bone ossification, Pectus excavatum, Hypoplasia of the musculatur... ORPHA:2463
Vertebral Hypersegmentation And Orofacial Anomalies
Pectus excavatum, Six lumbar vertebrae, Joint hypermobility, Supernumerary ribs, Scapular winging OMIM:619122
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pulmonary opa... ORPHA:411703
Schwartz-Jampel Syndrome
Apnea, Pectus excavatum, Abnormally ossified vertebrae, Short neck, Platyspondyly, Pectus carinat... ORPHA:800
Alagille Syndrome
Vertebral segmentation defect, Short distal phalanx of finger, Peripheral pulmonary artery stenos... ORPHA:52
Kaposiform Lymphangiomatosis
Abnormality of femur morphology, Abnormal scapula morphology, Fractures of the long bones, Abnorm... ORPHA:464329
X-Linked Hypophosphatemia
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, En... ORPHA:89936
Renpenning Syndrome
Sprengel anomaly, Joint stiffness, Pectus excavatum, Clinodactyly of the 5th finger, Abnormal rib... ORPHA:3242
Primary Dystonia, Dyt4 Type
Torticollis, Kyphoscoliosis, Respiratory distress ORPHA:98805
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Myopathy ORPHA:91130
Acrorenal-Mandibular Syndrome
Hypoplasia of the radius, Hemivertebrae, Rudimentary fibula, Hypoplasia of the ulna, Pulmonary hy... OMIM:200980
Orofaciodigital Syndrome Iii
Kyphosis, Pectus excavatum, Short sternum, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:258850
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Resp... ORPHA:264675
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Brachydactyly, Abnormal rib morphology, Split hand, Aplasia/Hypoplasia of the l... ORPHA:2145
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Short ribs, Craniosynosto... OMIM:252600
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Pectus excavatum, Arachnodactyly, Prominent metopic ridge, Camptodactyly of finger, Sco... ORPHA:2215
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology ORPHA:1506
Frontometaphyseal Dysplasia 2
Hip contracture, Dislocated radial head, Pectus excavatum, Short metacarpal, Congenital hip dislo... OMIM:617137
Familial Osteodysplasia, Anderson Type
Kyphosis, Recurrent fractures, Clinodactyly of the 5th finger, Scoliosis, Abnormal form of the ve... ORPHA:2769
Ulbright-Hodes Syndrome
Respiratory distress, Aplasia/Hypoplasia of the ulna, Short sternum, Short metacarpal, Thin ribs,... ORPHA:3404
Shprintzen-Goldberg Craniosynostosis Syndrome
Pectus excavatum, Craniosynostosis, Osteopenia, Pectus carinatum, Genu valgum, Umbilical hernia, ... OMIM:182212
Triosephosphate Isomerase Deficiency
Respiratory distress, Kyphosis, Respiratory insufficiency due to muscle weakness, Respiratory ins... OMIM:615512
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology, Recurrent fractures, Decreased calvarial ossification, Joint hyperflexib... ORPHA:2772
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Asymmetry of the thorax, Thin ribs, Epiphyseal streaking, Clinodactyly of the 4th toe, Wormian bo... OMIM:604922
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:276422
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Pectus excavatum, Respiratory insufficiency, Death in childhood, Tachypnea, Atelectasis, Respirat... OMIM:618278
Fanconi Anemia, Complementation Group I
Absent thumb, Hypoplasia of the radius, Short 1st metacarpal, Short neck, Fused cervical vertebra... OMIM:609053
Loeys-Dietz Syndrome 4
Torticollis, Abnormal sternum morphology, Spondylolisthesis, Arachnodactyly, Scoliosis, Protrusio... OMIM:614816
Acute Lung Injury
Respiratory distress, Pulmonary infiltrates, Abnormal pulmonary interstitial morphology, Tachypne... ORPHA:178320
22Q11.2 Deletion Syndrome
Asthma, Chronic pulmonary obstruction, Arachnodactyly, Short neck, Scoliosis, Arrhinencephaly, Ar... ORPHA:567
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral segmentation defect, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Joint stiffness, Airway obstruction, Lumbar hyperlordosis, Flexion contract... ORPHA:505248
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... OMIM:617604
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Short distal phalanx of the thumb, Finger syndactyly, Radial club ... ORPHA:959
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Short neck, 11 pairs of ribs, ... OMIM:250220
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy OMIM:604377
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Short metacarpal, Short femur, Undulate ribs, Femoral bowing, Flare... OMIM:211350
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral chest hypoplasia, Abnormality of the vertebral column, Scoliosis, Abnormal rib morphol... OMIM:308205
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract in... OMIM:263000
Trisomy 13
Narrow chest, Kyphosis, Ectrodactyly, Scoliosis, Abnormal lung lobation, Abnormal rib morphology,... ORPHA:3378
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Axial muscle stiffness ORPHA:240085
Bronchial breath sound, Sinusitis, Osteomyelitis, Apical pulmonary opacity, Pleural empyema, Coug... ORPHA:449280
Respiratory distress, Pulmonary infiltrates, Cough, Abnormal pulmonary thoracic imaging finding, ... ORPHA:3392
Lymphoid Interstitial Pneumonia
Pulmonary venous hypertension, Subpleural interstitial thickening, Multiple pulmonary cysts, Hypo... ORPHA:79128
Respiratory distress, Apnea, Thoracic scoliosis, Pulmonary edema, Left ventricular hypertrophy, O... ORPHA:79330
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Bowing of the long bones, Respiratory failure, Short long bone, Thoracic h... ORPHA:1505
Chronic Pneumonitis Of Infancy
Respiratory distress, Diffuse reticular or finely nodular infiltrations, Reduced forced vital cap... ORPHA:91359
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia ORPHA:195
Camptodactyly Syndrome, Guadalajara Type 3
Small hand, Osteopenia, Short neck, Broad femoral neck, Spina bifida occulta, Abnormal rib morpho... ORPHA:488434
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Abnormal lung lobation, Abnormal rib morphology, Missing ribs, Apl... ORPHA:3301
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Arachnodactyly, Hip dislocation, Congenital diaphragmatic hernia, Emphysema OMIM:614100
Anaplastic Thyroid Carcinoma
Respiratory distress, Abnormal skeletal muscle morphology, Neoplasm of the lung, Cough, Upper air... ORPHA:142
Stüve-Wiedemann Syndrome
Respiratory distress, Recurrent fractures, Apnea, Flexion contracture of finger, Asthma, Flexion ... ORPHA:3206
Respiratory distress, Pulmonary infiltrates, Osteomyelitis, Pleural empyema, Abnormality of the v... ORPHA:228123
Craniofaciofrontodigital Syndrome
Hypoplastic vertebral bodies, Pectus excavatum, Short neck, Hypoplastic pelvis, Cubitus valgus, B... OMIM:114620
Sclerosteosis 1
Cortically dense long tubular bones, 2-3 finger syndactyly, Syndactyly, Broad clavicles, Deviatio... OMIM:269500
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Overlapping toe, Thin ribs, Long clavicles, Coronal craniosynostosis, Contr... ORPHA:83617
Diffuse Alveolar Hemorrhage
Irregular septal thickening on pulmonary HRCT, Airway obstruction, Increased DLCO, Pulmonary veno... ORPHA:90060
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Gro... ORPHA:133
Ciliary Dyskinesia, Primary, 1
Chronic rhinitis, Atelectasis, Recurrent bronchitis, Ciliary dyskinesia, Chronic sinusitis, Pneum... OMIM:244400
Idiopathic Pulmonary Hemosiderosis
Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Crackles, Reticular pattern on pulmonar... ORPHA:99931
Van Den Ende-Gupta Syndrome
Pectus excavatum, Craniosynostosis, Femoral bowing, Tapered finger, Glenoid fossa hypoplasia, Lon... OMIM:600920
Schinzel-Giedion Syndrome
Respiratory distress, Abnormal clavicle morphology, Short 1st metacarpal, Short neck, Radioulnar ... ORPHA:798
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Miscarriage, Absent glenoid fo... ORPHA:96334
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Overlapping toe, Flexion contracture of finger, Pectus excavatum, Prominent ster... ORPHA:254528
Respiratory distress, Kyphosis, Recurrent upper and lower respiratory tract infections, Pectus ex... ORPHA:79329
Apert Syndrome
Delayed epiphyseal ossification, Cervical C5/C6 vertebrae fusion, Finger syndactyly, Craniosynost... OMIM:101200
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal vertebral segmentation and fusion, Hypoplasia of the ra... ORPHA:233
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Brachydactyly, Arthrogryposis multiplex congenita, Thin ribs, Craniosynostosis OMIM:618265
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Thin ribs, Stenosis of the medullary cavity of the lo... ORPHA:93324
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Postaxial polydactyly, Small hand, Hip dysplasia, Scoliosis, Tapered finger... OMIM:300968
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Delayed epiphyseal ossification, Macroglossia, Absent ossification of capit... ORPHA:226313
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Metaphyseal spurs, Short long bone, Short ribs, Postaxial polydac... OMIM:613091
Scimitar Syndrome
Respiratory distress, Pulmonary sequestration, Anomalous pulmonary venous return, Hypoplasia of t... ORPHA:185
Occipital Horn Syndrome
Narrow chest, Kyphosis, Short clavicles, Pectus excavatum, Coxa valga, Platyspondyly, Short humer... OMIM:304150
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary infiltrates, Right ventricular hypertrophy, Interstitial pneumonitis, Intraalveolar pho... ORPHA:217563
Niemann-Pick Disease, Type B
Diffuse reticular or finely nodular infiltrations, Abnormal pulmonary interstitial morphology, De... OMIM:607616
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Antley-Bixler Syndrome
Narrow chest, Recurrent fractures, Joint stiffness, Elbow ankylosis, Craniosynostosis, Arachnodac... ORPHA:83
Pulmonary Alveolar Microlithiasis
Ground-glass opacification, Pneumothorax, Respiratory failure, Interlobular septal thickening, Ox... ORPHA:60025
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck, Congenital diaphragmatic hernia ORPHA:1780
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Multiple joint contractures, Broad carpal bones, Platyspondyly, Short neck,... ORPHA:99646
Mucopolysaccharidosis, Type Iiid
Thickened ribs, Joint stiffness, Epiphyseal dysplasia, Thoracic scoliosis, Hypoplastic vertebral ... OMIM:252940
Pulmonary infiltrates, Chylothorax, Cough, Atelectasis, Restrictive ventilatory defect, Emphysema... ORPHA:538
Kagami-Ogata Syndrome
Diastasis recti, Kyphoscoliosis, Limitation of joint mobility, Coat hanger sign of ribs, Short ne... ORPHA:254519
Lujo Hemorrhagic Fever
Respiratory distress, Rhinitis, Nonproductive cough, Crackles, Atelectasis, Stiff neck ORPHA:319213
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elbow ankylosis, Craniosynostosis, Femoral bowing, Radioulnar synostosis, Bowing of the long bone... ORPHA:95699
Orofaciodigital Syndrome Type 3
Pectus excavatum, Short sternum, Postaxial hand polydactyly, Thoracic kyphosis, Postaxial foot po... ORPHA:2752
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Osteogenesis Imperfecta
Abnormality of femur morphology, Pectus excavatum, Osteopenia, Femoral bowing, Biconcave vertebra... ORPHA:666
Chops Syndrome
Cervical C2/C3 vertebral fusion, Sleep apnea, Anomalous pulmonary venous return, Tracheomalacia, ... OMIM:616368
Diffuse Cutaneous Systemic Sclerosis
Pulmonary infiltrates, Flexion contracture, Narrow foramen obturatorium, Arthritis, Osteolysis, D... ORPHA:220393
Turnpenny-Fry Syndrome
Narrow chest, Torticollis, Overlapping toe, Lumbar hyperlordosis, Short sternum, Pectus excavatum... OMIM:618371
Arterial Tortuosity Syndrome
Respiratory distress, Coxa vara, Clinodactyly of the 5th finger, Coxa valga, Craniosynostosis, Ar... ORPHA:3342
Alveolar Echinococcosis
Abnormal sternum morphology, Abnormal skeletal muscle morphology, Abnormality of the diaphragm, C... ORPHA:284
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Short ribs, Preaxial hand polydactyly, Platyspondyly, Brachy... OMIM:263520
Apert Syndrome
Vertebral segmentation defect, Respiratory insufficiency, Broad thumb, Cervical C5/C6 vertebrae f... ORPHA:87
Esophageal Atresia
Laryngotracheomalacia, Respiratory distress, Episodic respiratory distress, Chronic pulmonary obs... ORPHA:1199
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Prominent sternum, Elbow ankylosis, Hypoplasia of the radius, Hemivertebrae, Decreased calvarial ... OMIM:276820
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Respiratory distress, Short clavicles, Short ribs, Postaxial polydactyly, Cone-shap... OMIM:617088
Sternum, Premature Obliteration Of Sutures Of
Premature sternal synostosis, Short sternum OMIM:184800
Succinic Acidemia
Respiratory distress OMIM:600335
Restrictive Dermopathy 2
Respiratory distress, Short clavicles, Overtubulated long bones OMIM:619793
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Wide anterior fontanel, Narrow greater sciatic notch, Short ribs, Postaxial polydac... OMIM:617925
Laryngotracheal Angioma
Respiratory distress, Apnea, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the ulna, Hypoplastic pelvis, P... OMIM:208500
Immunodeficiency 27A
Pulmonary infiltrates, Hypoplasia of the femoral head, Abnormal bronchus physiology, Pneumonia, S... OMIM:209950
Nestor-Guillermo Progeria Syndrome
Joint stiffness, Flexion contracture, Thin ribs, Scoliosis, Wide cranial sutures, Osteoporosis, P... OMIM:614008
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Neonatal death, Pulmonary hypoplasia, Arthrogryposis multiplex conge... OMIM:608013
Kenny-Caffey Syndrome, Type 1
Thin ribs, Long clavicles, Small hand, Thin clavicles, Slender long bone, Short foot, Delayed clo... OMIM:244460
Marshall-Smith Syndrome
Apnea, Airway obstruction, Pectus excavatum, Short sternum, Accelerated skeletal maturation, Slen... OMIM:602535
Anti-Glomerular Basement Membrane Disease
Pulmonary infiltrates, Respiratory insufficiency, Cough, Arthritis ORPHA:375
Ear-Patella-Short Stature Syndrome
Respiratory distress, Clinodactyly of the 5th finger, Craniosynostosis, Camptodactyly of finger, ... ORPHA:2554
Multiple pulmonary cysts, Hypoxemia, Nonproductive cough, Interstitial pneumonitis, Respiratory i... ORPHA:723
Sinusitis, Osteomyelitis, Pulmonary infiltrates, Air crescent sign, Myositis, Parenchymal consoli... ORPHA:228119