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Gene: Traf4 MGI:1202880

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
TNF receptor associated factor 4
Synonyms:
CART1,  A530032M13Rik,  msp2

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 Traf4 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 Traf4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mounier-Kühn Syndrome
Recurrent respiratory infections, Pneumonia, Bronchitis, Recurrent bronchopulmonary infections, T... ORPHA:3347
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Abnormal bronchus morphology, Pneumonia, Bronchitis, Productive... ORPHA:3348
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Abnormal lung morphology, Tachypnea, Atelectasis, Whee... ORPHA:60032
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Tracheal atresia, Respiratory insufficiency ORPHA:3346
Laryngomalacia
Respiratory distress, Abnormal tracheal morphology, Congenital laryngeal stridor OMIM:150280
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor ORPHA:2375
Idiopathic Achalasia
Bronchitis, Wheezing, Weight loss, Cough, Recurrent aspiration pneumonia ORPHA:930
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Cachexia, ... ORPHA:60033
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Diverticulosis of trachea, Bronchiectasis OMIM:275300
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Laryngotracheal stenosis, Tracheoesophageal fistula, Upper airway ... ORPHA:142
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Tracheal atresia, Respiratory insufficiency OMIM:601612
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... OMIM:222600
Congenital Respiratory-Biliary Fistula
Tracheal stenosis ORPHA:2040
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Cachexia, Tracheoesophageal fistula, Respiratory insufficiency ORPHA:93941
Autosomal Dominant Spondylocostal Dysostosis
Recurrent respiratory infections, Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morpho... ORPHA:1797
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... ORPHA:79127
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... OMIM:613953
Pulmonary Blastoma
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Cough ORPHA:64741
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... OMIM:102510
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... ORPHA:70589
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Spondylocostal Dysostosis 2, Autosomal Recessive
Recurrent respiratory infections, Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Rest... OMIM:608681
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Halberd-shaped pelvis, Narr... OMIM:156530
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... ORPHA:2032
Three M Syndrome 1
Joint dislocation, Scapular winging, Neonatal respiratory distress, Small for gestational age, Sh... OMIM:273750
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... ORPHA:2311
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Recurrent respiratory infections, Block vertebrae, Abnormal odontoid... OMIM:277300
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Coxa vara, Pectus carinat... OMIM:613330
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch... OMIM:613490
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... OMIM:613686
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerar... ORPHA:64755
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp... ORPHA:93304
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r... OMIM:612444
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613808
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ... OMIM:608710
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Abnormal fibula morphology, G... ORPHA:85198
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, F... ORPHA:264675
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... ORPHA:3268
Spondylosis, Cervical
Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis OMIM:184300
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Keutel Syndrome
Recurrent respiratory infections, Pulmonary artery stenosis, Calcification of cartilage, Recurren... ORPHA:85202
Brachyolmia Type 1, Toledo Type
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... OMIM:271630
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Scoliosis, Spina bifida oc... ORPHA:64754
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Recurrent pneumonia, Optic atrop... OMIM:602271
Maternal Uniparental Disomy Of Chromosome 9
Kyphoscoliosis, Short neck, Patellar dislocation, Osteochondrosis, Intrauterine growth retardatio... ORPHA:96183
Spondyloepiphyseal Dysplasia, Nishimura Type
Recurrent respiratory infections, Osteoarthritis, Inspiratory stridor OMIM:618618
Emphysema, Congenital Lobar
Respiratory distress, Bronchial cartilage hypoplasia OMIM:130710
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:616726
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly ORPHA:2956
Femoral-Facial Syndrome
Short femur, Cryptorchidism, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Cox... ORPHA:1988
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:608644
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:300991
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613807
Allergic Bronchopulmonary Aspergillosis
Abnormal bronchus morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cou... ORPHA:1164
Jung Syndrome
Tracheal stenosis, Recurrent respiratory infections ORPHA:2321
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia ORPHA:141152
Pelvis-Shoulder Dysplasia
Back pain, Hypoplastic scapulae, Lumbar hyperlordosis, Congenital hip dislocation, Hypoplastic il... OMIM:169550
Thyroid Lymphoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Hashimoto thyroiditis ORPHA:97285
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r... OMIM:173800
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Sacral dimple, Congenital hip dislocation, Femur fracture, Respiratory insufficien... OMIM:618291
Spondyloepiphyseal Dysplasia, Stanescu Type
Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Vertebral wedging, Platyspondyly, Internal tibial t... OMIM:616583
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
White Forelock With Malformations
Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi... ORPHA:2475
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Pendred Syndrome
Tracheal stenosis, Respiratory insufficiency ORPHA:705
Fazio-Londe Disease
Progressive inspiratory stridor OMIM:211500
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... OMIM:184252
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Czeizel-Losonci Syndrome
Hitchhiker thumb, Thoracolumbar scoliosis, Spina bifida, Myelomeningocele, Hydrocephalus, 2-3 fin... ORPHA:2437
Arthrogryposis, Distal, Type 2A
Joint dislocation, Short neck, Knee flexion contracture, Spina bifida occulta, Wrist flexion cont... OMIM:193700
Combined Immunodeficiency, X-Linked
Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media OMIM:312863
Brachyolmia Type 1, Hobaek Type
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... OMIM:271530
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Kyphoscoliosis, Hyperlordosis, Coxa valga, Short thorax, Obesity, Flattened epip... OMIM:618363
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Atelosteogenesis, Type Ii
Cervical kyphosis, Short neck, Increased intervertebral space, Lumbar hyperlordosis, Respiratory ... OMIM:256050
Isolated Klippel-Feil Syndrome
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder ... ORPHA:2345
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis OMIM:618449
Neuronal Intranuclear Inclusion Disease
Scoliosis, Spina bifida occulta, Optic atrophy, Abnormal form of the vertebral bodies ORPHA:2289
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Flat capital femoral epiphysis, Pectus carinatum, Genu valgum, Irregular ve... OMIM:609223
Difference Of Sex Development-Intellectual Disability Syndrome
Short neck, Kyphosis, Short thorax, Genu valgum, Hypogonadism, Spina bifida occulta ORPHA:2983
Ichthyosis--Cheek--Eyebrow Syndrome
Abnormal thorax morphology, Kyphoscoliosis OMIM:146720
Laryngeal Abductor Paralysis
Stridor OMIM:150260
Immunodeficiency 20
Recurrent respiratory infections, Wheezing, Recurrent sinusitis, Recurrent otitis media, Recurren... OMIM:615707
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Delayed closure of the anterior fontanelle, Lambdoidal craniosynostosis, ... OMIM:618736
Neural Tube Defects, Susceptibility To
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Myelomeningocele, Hydroce... OMIM:182940
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy... OMIM:150250
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... ORPHA:133
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Fountain Syndrome
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Spina bifida, Pectus ... ORPHA:3219
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Sacrococcygeal pilonidal abnormality, Hip dislocation, Slender long bone, Hypoplastic pelvis, Spi... ORPHA:2840
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumo... ORPHA:2257
Immunodeficiency 104
Pneumonia, Eczema, Chronic mucocutaneous candidiasis, Otitis media, Failure to thrive secondary t... OMIM:608971
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Short neck, Clinodactyly of the 5th finger, Sp... OMIM:201000
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Kyphoscoliosis, Spinal rigidity, Reduced forced vital capacity, Ankle contractur... OMIM:620386
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... ORPHA:1302
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Intrauterine growth retardation, Spina bifida occulta, Short palm OMIM:101805
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Multiple joint dislocation, Abno... ORPHA:93360
Cleidocranial Dysplasia
Sinusitis, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Sp... ORPHA:1452
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615505
Autosomal Recessive Multiple Pterygium Syndrome
Multiple pterygia, Symphalangism affecting the phalanges of the hand, Abnormal sternum morphology... ORPHA:2990
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Bowing of the legs, Secondary amenorrhea, Irregular vertebral endplates, Platyspo... OMIM:612847
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Immunodeficiency 48
Recurrent respiratory infections, Failure to thrive, Eczematoid dermatitis, Pneumonia OMIM:269840
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... ORPHA:168549
Rhizomelic Chondrodysplasia Punctata
Epiphyseal stippling, Abnormal epiphysis morphology, Scoliosis, Abnormal metaphysis morphology, S... ORPHA:177
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Intellectual Developmental Disorder, X-Linked 19
Scoliosis, Small for gestational age, Kyphoscoliosis OMIM:300844
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal jo... ORPHA:1145
Craniosynostosis 6
Delayed cranial suture closure, Craniosynostosis, Right unilambdoid synostosis, Scoliosis, Spina ... OMIM:616602
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... OMIM:608647
Congenital Myopathy 23
Facial diplegia, Scapular winging, Reduced vital capacity, Kyphoscoliosis OMIM:609285
Alagille Syndrome
Peripheral pulmonary artery stenosis, Failure to thrive, Hypoplasia of the ulna, Cryptorchidism, ... ORPHA:52
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Small for gestational age, Tachypnea, Respiratory failure, Failure to thrive, Inspiratory stridor... OMIM:604320
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:612649
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Abnormal pattern of respiration OMIM:608800
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Sandal gap, Pectus excavatum, Short toe, Prominent sternum, Clinodactyly of the... OMIM:617877
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... OMIM:610910
Myotonia, Potassium-Aggravated
Stridor, Apneic episodes in infancy OMIM:608390
Asbestos Intoxication
Reduced vital capacity, Lung adenocarcinoma, Reduced forced vital capacity, Nonproductive cough, ... ORPHA:2302
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Hydrocephalus, Kyphoscoliosis OMIM:236660
Paramyotonia Congenita
Inspiratory stridor OMIM:168300
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspnea, Whee... ORPHA:79128
Acrocraniofacial Dysostosis
Craniosynostosis, Tapered finger, Pectus excavatum, Coxa valga, Abnormal form of the vertebral bo... ORPHA:949
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Nemaline Myopathy 7
Lumbar hyperlordosis, Genu recurvatum, Kyphoscoliosis, Respiratory insufficiency due to muscle we... OMIM:610687
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Failure to thrive, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Recurrent respiratory infections, Neonatal respiratory distress, Respiratory insufficiency, Conge... OMIM:618356
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Narrow chest, Abnormal ... ORPHA:1354
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Hydrocephalus, Abnorm... ORPHA:2635
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... OMIM:184100
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Syndactyly, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... OMIM:600384
Spondylometaphyseal Dysplasia, X-Linked
Hyperextensibility of the finger joints, Hip contracture, Enlarged joints, Thoracolumbar scoliosi... OMIM:313420
Ck Syndrome
Long toe, Lumbar hyperlordosis, Kyphoscoliosis, Long fingers, Pachygyria, Slender build, Polymicr... ORPHA:251383
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Tracheoesophageal fistula, Fused cervical vertebrae, Sprengel anomaly, Spina bi... OMIM:619227
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Broad femoral neck,... OMIM:611209
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Crackles, Abnormal pleura morphology, Dyspnea, Restrictive ventilatory defect, Pulmonary fibrosis... ORPHA:210136
Nasolacrimal Duct Cyst
Intercostal retractions, Chronic irritative conjunctivitis, Episodic respiratory distress, Strido... ORPHA:141083
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia OMIM:618806
Combined D-2- And L-2-Hydroxyglutaric Aciduria
Stridor, Dyspnea, Respiratory insufficiency OMIM:615182
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Coxa vara, Metaphyseal cupping of metacarpals, Thoracic kyphosi... OMIM:300232
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Abnormal sternum mo... ORPHA:2911
Myopathic Ehlers-Danlos Syndrome
Shoulder flexion contracture, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Kyphosis, Tapered ... ORPHA:536516
Pseudoachondroplasia
Delayed epiphyseal ossification, Osteoarthritis, Metaphyseal widening, Abnormal form of the verte... ORPHA:750
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Optic disc pallor, Spina bifida occulta, Tethered cord OMIM:615281
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Chronic pulmon... OMIM:615482
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, Bell-shaped tho... OMIM:255710
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Dyspnea, Nonproductive cough, Atelectasis, Wheezing, Asthma, Hypersensitivity pneumonit... ORPHA:2902
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial palsy, Hyperlordosis, High iliac wing, Asymmetry of the thorax, Scoliosis, Large iliac win... ORPHA:2780
Hyperekplexia 4
Kyphoscoliosis, Respiratory failure, Camptodactyly, Umbilical hernia, Adducted thumb OMIM:618011
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615500
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Cerebrooculofacioskeletal Syndrome 4
Failure to thrive in infancy, Rocker bottom foot, Kyphoscoliosis, Camptodactyly of finger, Adduct... OMIM:610758
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos... OMIM:208230
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Brachyolmia, Maroteaux Type
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:93302
Ciliary Dyskinesia, Primary, 37
Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea OMIM:617577
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid... OMIM:617092
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Short neck, Small hand, Abnormal form of the vertebral bodies, Scoliosis, Spin... ORPHA:1787
Multiple Pterygium Syndrome, Escobar Variant
Short neck, Knee flexion contracture, Intercrural pterygium, Camptodactyly of toe, Pterygium, Dis... OMIM:265000
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor, Failure to thrive OMIM:615595
Geleophysic Dysplasia 3
Tracheal stenosis, Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Spina bifida occulta ORPHA:1514
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the knee, Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morp... ORPHA:99642
Hurler-Scheie Syndrome
Tracheal stenosis, Recurrent respiratory infections, Pulmonary arterial hypertension OMIM:607015
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... OMIM:617091
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media, Failure to thrive secondar... OMIM:601457
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Irregularity of vertebral bodies, Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal f... OMIM:609324
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Failure to thrive, Congenital laryngeal stridor ORPHA:2254
Distal Deletion 10Q
Scapular winging, Lumbar hyperlordosis, Sandal gap, Prominent metopic ridge, Craniosynostosis, Ta... ORPHA:96148
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... OMIM:211530
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Cervical kyphosis, Short neck, Bowing of the legs, Metaphyseal wideni... OMIM:255800
Pontine Tegmental Cap Dysplasia
Facial palsy, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis, Aspiration, Failure to thrive OMIM:614688
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Asthma, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia OMIM:617638
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Facial palsy, Abnormal rib morphology, Abnormal form of the vertebral b... ORPHA:2790
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Tracheal stenosis OMIM:601427
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulde... ORPHA:1159
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Kyphoscoliosis, Scoliosis, Genu valgum ORPHA:3115
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... OMIM:271650
Whistling Face Syndrome, Recessive Form
Shoulder flexion contracture, Kyphoscoliosis, Short neck, Elbow flexion contracture, Knee flexion... OMIM:277720
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Recurrent respiratory infections, Hyperextensibility of the finger joints, Lumbar hyperlordosis, ... ORPHA:3041
Warburg Micro Syndrome 1
Overlapping toe, Kyphoscoliosis, Cryptorchidism, Perisylvian polymicrogyria, Optic atrophy, Failu... OMIM:600118
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Cryptorchidism, Restrictive ventilatory defe... OMIM:618484
Thanatophoric Dysplasia, Type I
Short neck, Femoral bowing, Narrow chest, Neonatal death, Neonatal respiratory distress, Small ab... OMIM:187600
Spondyloepimetaphyseal Dysplasia, Shohat Type
Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Atlantoaxial abnormality, Broad hallux, Broad thumb, Kyphoscoliosis ORPHA:3433
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Platyspondyly, Abnormality of the ankle, Bilateral coxa valga, Abnormal ... ORPHA:163665
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Congenital Disorder Of Glycosylation, Type Iik
Epiphyseal dysplasia, Metaphyseal dysplasia, Kyphoscoliosis, Diaphyseal dysplasia, Failure to thrive OMIM:614727
Gaucher Disease, Type Ii
Apnea, Stridor, Cough, Bronchiolitis, Failure to thrive, Recurrent aspiration pneumonia OMIM:230900
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Vertebra... OMIM:617719
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... ORPHA:723
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Craniosynostosis, Rib fusion, Obesity, Hand polydactyly, Syringomye... ORPHA:261197
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Facial diplegia, Pachygyria, Kyphoscoliosis ORPHA:370980
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... OMIM:618728
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Abnormal form of th... ORPHA:628
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Kyphoscoliosis OMIM:619099
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Pectus excavatu... OMIM:616817
Pseudoachondroplasia
Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Osteoarthritis, Metaphyseal wid... OMIM:177170
Spinocerebellar Ataxia-Dysmorphism Syndrome
Genu recurvatum, Optic atrophy, Slender long bone, Cubitus valgus, Spina bifida occulta ORPHA:1185
Richieri-Costa/Guion-Almeida Syndrome
Pectus excavatum, Spina bifida occulta, Abnormal digit morphology OMIM:268850
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Postaxial polydactyly, Kyphoscoliosis OMIM:612913
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Nonprod... ORPHA:79126
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... OMIM:253000
Chst3-Related Skeletal Dysplasia
Barrel-shaped chest, Short metacarpal, Enlarged joints, Kyphoscoliosis, Abnormality of the elbow,... ORPHA:263463
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thumb, Preaxial hand ... ORPHA:1120
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... ORPHA:239
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Myasthenic Syndrome, Congenital, 20, Presynaptic
Stridor, Hypoventilation, Apnea OMIM:617143
Scedosporiosis
Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... ORPHA:449280
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:614679
Hypomandibular Faciocranial Dysostosis
Tracheal stenosis, Recurrent respiratory infections, Abnormal tracheobronchial morphology ORPHA:1790
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Short palm, Pectus excavatum, Pachygyria, Cryptorchidism, Pulmonary lymphangiectasia, Small hand,... OMIM:235510
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Brown-Vialetto-Van Laere Syndrome 2
Facial palsy, Kyphoscoliosis, Split hand, Optic atrophy, Respiratory insufficiency, Scoliosis OMIM:614707
Rhizomelic Chondrodysplasia Punctata, Type 1
Kyphoscoliosis, Flared metaphysis, Respiratory insufficiency, Coronal cleft vertebrae, Epiphyseal... OMIM:215100
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of... OMIM:608728
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Aspiration pneumonia OMIM:609528
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Ankle flexion contracture, Wrist flexion contracture, Kyphoscoliosis OMIM:616668
Joint Laxity, Short Stature, And Myopia
Cervical kyphosis, Kyphoscoliosis, Multiple joint dislocation, Pectus carinatum, Umbilical hernia OMIM:617662
Acrofacial Dysostosis, Catania Type
Finger syndactyly, Pectus excavatum, Cryptorchidism, Small hand, Short palm, Clinodactyly of the ... ORPHA:1786
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Arachnodactyly, Kyphoscoliosis, Wide distal femoral metaphysis, Pectus carinat... OMIM:614856
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Kyphoscol... ORPHA:101081
Odontochondrodysplasia 1
Respiratory distress, Genu recurvatum, Metaphyseal widening, Pectus carinatum, Narrow chest, Shor... OMIM:184260
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Respiratory insufficiency due to muscle weakness, Abnormal cortical gyration, Kyphoscoliosis OMIM:607855
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Scapular winging, Sacral dimple, Toe syndactyly, Brachydactyly, Camptodactyly of f... ORPHA:1327
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... ORPHA:166011
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchiectasis, Abnormal pulmonary interstitial... OMIM:620233
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis OMIM:271200
Osteopathia Striata With Cranial Sclerosis
Apnea, Osteopathia striata, Clinodactyly of the 5th finger, Broad ribs, Spina bifida occulta, Mul... OMIM:300373
Foxg1 Syndrome
Kyphoscoliosis, Abnormal respiratory system physiology, Scoliosis, Decreased body weight, Pachygyria ORPHA:561854
Aicardi Syndrome
Block vertebrae, Proximal placement of thumb, Missing ribs, Spina bifida, Optic disc coloboma, Ri... OMIM:304050
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Short neck, Tapered finger, Multiple joint dislocation, Hip dislocation, ... OMIM:618395
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Kyphoscoliosis, Knee flexion contracture ORPHA:496689
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Tracheal stenosis, Neonatal respiratory distress, Respiratory distress, Tracheomalacia OMIM:217980
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Kyphoscoliosis OMIM:605588
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Hammertoe, Kyphoscoliosis OMIM:180800
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Intercostal muscle weakness OMIM:606071
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... OMIM:184250
Myotonia Fluctuans
Stridor, Apnea ORPHA:99734
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Failure to thrive, Syndactyly, Broad clavicles, Aplasia/... OMIM:151050
Multiple Epiphyseal Dysplasia Type 5
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnorm... ORPHA:93311
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... OMIM:603546
Pyle Disease
Metaphyseal dysplasia, Abnormal thorax morphology, Metaphyseal widening, Genu valgum, Platyspondy... OMIM:265900
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the knee, Metaphyseal dysplasia, Irregular iliac crest, Irregular acetabular roof,... ORPHA:93316
Cerebrofaciothoracic Dysplasia
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... ORPHA:1394
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax... ORPHA:1801
Scholte Syndrome
Kyphoscoliosis, Acromicria, Small hand, Patellar hypoplasia, Short foot, Decreased testicular size OMIM:300977
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx... ORPHA:2839
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Craniosynostosis, Cryptorchidism, ... ORPHA:65759
Chondrodysplasia Punctata 2, X-Linked Dominant
Kyphoscoliosis, Short neck, Postaxial polydactyly, Abnormal thorax morphology, Hemivertebrae, Pun... OMIM:302960
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Short neck, Abnormal rib morphology, Obesity, Hemivertebrae, Abnormal form of ... ORPHA:2234
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... ORPHA:457395
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Kyphoscoliosis OMIM:617977
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi... OMIM:616037
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... OMIM:187601
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplates, Platyspondyl... OMIM:604864
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... ORPHA:70588
Arthrogryposis, Distal, Type 3
Lumbar hyperlordosis, Congenital hip dislocation, Thoracolumbar scoliosis, Down-sloping shoulders... OMIM:114300
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... OMIM:618063
Parkinson-Dementia Syndrome
Kyphoscoliosis OMIM:260540
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends, Coxa vara, Short palm ORPHA:168555
Anauxetic Dysplasia 2
Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb... OMIM:617396
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Small for gestational age, Respiratory failure, Aspiration pneumonia OMIM:619057
Frontometaphyseal Dysplasia
Limited elbow movement, Metaphyseal widening, Short metatarsal, Spina bifida occulta, Short phala... ORPHA:1826
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Split hand, Kyphoscoliosis OMIM:607831
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Wormian bone... OMIM:259440
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Kniest Dysplasia
Respiratory distress, Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Ti... OMIM:156550
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... OMIM:614017
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Kyphosis, Short thorax, Hydrocephalus, Respiratory insuffic... ORPHA:2655
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Spina bifida occulta OMIM:618060
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aganglionic megacolon, Facial palsy, Sandal ga... OMIM:607323
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Osteoarthritis, Abnormal joint morphology, Abnormal rib morphology, Abnormal ca... ORPHA:93351
King-Denborough Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Bilateral cryptorchidism, Cryptorchidism, Thora... OMIM:619542
Joubert Syndrome 18
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphosc... OMIM:614815
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Kyphoscoliosis, Split hand, Hammertoe, Decreased ampli... ORPHA:99950
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyse... OMIM:251450
Campomelic Dysplasia
Respiratory distress, Thoracic scoliosis, Apnea, Cervical kyphosis, Anterior tibial bowing, Delay... OMIM:114290
Scapuloperoneal Spinal Muscular Atrophy
Stridor, Respiratory insufficiency OMIM:181405
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Kyphoscoliosis, Coxa valga, Pectus ex... OMIM:617425
Proteus Syndrome
Spinal cord compression, Spinal canal stenosis, Kyphoscoliosis OMIM:176920
3Mc Syndrome
Craniosynostosis, Hyperlordosis, Bilateral cryptorchidism, Limited pronation/supination of forear... ORPHA:293843
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short metacarpal, Camptodactyly of finger, Kyphoscoliosis, Tapered finger, Flat capital femoral e... OMIM:612350
Cd8 Deficiency, Familial
Recurrent respiratory infections, Bronchiectasis OMIM:608957
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... OMIM:269250
Microcephaly 30, Primary, Autosomal Recessive
Tracheal stenosis OMIM:620183
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Clinodactyly of the 5th finger, Sp... ORPHA:235
Isotretinoin Syndrome
Sacral dimple, Spina bifida occulta ORPHA:2305
Thanatophoric Dysplasia Type 2
Encephalocele, Kyphosis, Hydrocephalus, Short thorax, Abnormality of neuronal migration, Respirat... ORPHA:93274
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga OMIM:271620
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Hammertoe, Split hand, Kyphoscoliosis OMIM:118220
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... OMIM:604571
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa vara, Femoral b... OMIM:608940
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... OMIM:268310
Richieri Costa-Da Silva Syndrome
Joint dislocation, Kyphoscoliosis, Short neck, Metatarsus adductus, Vertebral wedging, Pectus car... ORPHA:3101
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Kyphoscoliosis OMIM:117850
Tetraamelia-Multiple Malformations Syndrome
Tracheal stenosis, Abnormal lung lobation, Aplasia/Hypoplasia of the lungs ORPHA:3301
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Rocker bottom foot, Kyphoscoliosis, Coxa valga, Cryptorchidism, Recurr... OMIM:214150
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... OMIM:223800
D-2-Hydroxyglutaric Aciduria 1
Apnea, Inspiratory stridor OMIM:600721
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... OMIM:187760
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Small for gestational age, Down-sloping shoulders, Kyphoscoliosis, Short neck, Pectus excavatum, ... ORPHA:391408
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Abnormal form of the vertebral bodies, Abnormal vertebral morphology, Te... ORPHA:280
Intellectual Developmental Disorder, X-Linked 111
Kyphoscoliosis OMIM:301107
Idiopathic Pulmonary Hemosiderosis
Glomerulonephritis, Nodular pattern on pulmonary HRCT, Crackles, Diffuse alveolar hemorrhage, Dys... ORPHA:99931
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Noonan Syndrome With Multiple Lentigines
Scapular winging, Pectus excavatum, Cryptorchidism, Decreased fertility, Pectus carinatum, Scolio... ORPHA:500
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Neonatal respiratory distress, Coarse metaphyseal trabecularization, Increased intervertebral spa... OMIM:618961
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Hammertoe, Split hand, Kyphoscoliosis OMIM:604563
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Bowing of the legs, Platyspondyly, Delayed ossification of carpal bones, I... OMIM:617974
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins... ORPHA:98914
Smith-Mccort Dysplasia 1
Barrel-shaped chest, Short metacarpal, Hypoplastic scapulae, Iliac crest serration, Multicentric ... OMIM:607326
Spondyloepiphyseal Dysplasia, Kimberley Type
Flat capital femoral epiphysis, Platyspondyly, Genu varum, Genu valgum OMIM:608361
Mitochondrial Complex I Deficiency, Nuclear Type 8
Optic disc pallor, Kyphoscoliosis, Respiratory insufficiency OMIM:618230
Classical-Like Ehlers-Danlos Syndrome Type 1
Spina bifida occulta ORPHA:230839
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Inflamm... OMIM:618108
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Short neck, Narrow chest, Radial bowing, Dumbbell-shaped long bone, Flat ac... OMIM:151210
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Anterior wedging of L... OMIM:253200
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Metaphyseal widening, Multiple joint dislocation, Pectus carinatum, Arachno... ORPHA:536467
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi... OMIM:313400
Fibrochondrogenesis 2
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... OMIM:614524
Limb Body Wall Complex
Encephalocele, Broad hallux, Aplasia/hypoplasia involving bones of the upper limbs, Spina bifida,... ORPHA:2369
Acalvaria
Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Abnormal lung lobation, Abnormality of n... ORPHA:945
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Scoliosis, Camptodactyly, Intrauterine growth retardation, Clinodactyly, Spina bifida occulta OMIM:617360
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... ORPHA:474
High Altitude Pulmonary Edema
Orthopnea, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema ORPHA:330012
Activated Pi3K-Delta Syndrome
Pneumonia, Bronchiectasis, Arthritis, Recurrent otitis media, Recurrent upper and lower respirato... ORPHA:397596
Brachydactylous Dwarfism, Mseleni Type
Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Knee osteoarthritis, Platyspond... ORPHA:2619
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Allan-Herndon-Dudley Syndrome
Small for gestational age, Failure to thrive in infancy, Kyphoscoliosis, Pectus excavatum, Crypto... ORPHA:59
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615444
Multiple System Atrophy
Stridor ORPHA:102
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Stridor OMIM:619574
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Tracheal stenosis, Recurrent respiratory infections, Truncal obesity ORPHA:2637
Smith-Mccort Dysplasia 2
Short neck, Short metatarsal, Pectus carinatum, Short phalanx of finger, Barrel-shaped chest, Sho... OMIM:615222
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Cryptorchidis... OMIM:146510
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ... OMIM:613193
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Irregular ver... OMIM:271640
Microlissencephaly
Pneumonia ORPHA:1083
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... OMIM:614935
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... ORPHA:2347
Van Esch-O'Driscoll Syndrome
Sacral dimple, Hypogonadotropic hypogonadism, Pulmonary artery stenosis, Tracheoesophageal fistul... OMIM:301030
Intellectual Developmental Disorder, Autosomal Recessive 39
Hallux valgus, Kyphoscoliosis OMIM:615541
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Recurrent respiratory infections, Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, O... OMIM:615633
Leukodystrophy, Hypomyelinating, 17
Kyphoscoliosis OMIM:618006
Contractural Arachnodactyly, Congenital
Hip contracture, Bowing of the long bones, Congenital kyphoscoliosis, Arachnodactyly, Kyphoscolio... OMIM:121050
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Recurrent skin infections, Chronic pulmon... OMIM:616576
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Bowing of the long bones, Kyphoscoliosis, Pectus excavatum, Hypoplastic ili... OMIM:615349
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Vertebral fusion, Sacral dimple, Hyperextensibility of the finger jo... OMIM:213980
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Hypogonadotropic hypogonadism, Genu recurvatum, Kyphos... OMIM:604168
Vacterl/Vater Association
Tracheal stenosis, Tracheoesophageal fistula, Aplasia/Hypoplasia of the lungs ORPHA:887
Brain Dopamine-Serotonin Vesicular Transport Disease
Stridor ORPHA:352649
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Hammertoe, Split hand, Kyphoscoliosis OMIM:118200
Autosomal Recessive Robinow Syndrome
Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Syno... ORPHA:1507
Coffin-Siris Syndrome 6
Kyphoscoliosis, Pectus excavatum, Wormian bones, Clinodactyly, Brachydactyly OMIM:617808
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Small for gestational age, Beaded ribs, Respiratory insuff... OMIM:166210
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb, Short neck, ... ORPHA:93267
Cartilage-Hair Hypoplasia
Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pectus carinatum... ORPHA:175
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Inspiratory stridor, Irregular respiration OMIM:604377
Multiple System Atrophy, Parkinsonian Type
Stridor ORPHA:98933
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Dyspnea, Asthma, Chronic pulmonary obstruction, H... ORPHA:1163
Aicardi Syndrome
Block vertebrae, Missing ribs, Optic disc coloboma, Rib fusion, Optic atrophy, Small hand, Hip dy... ORPHA:50
Anauxetic Dysplasia 3
Recurrent respiratory infections, Short metacarpal, Thoracolumbar kyphoscoliosis, Pectus excavatu... OMIM:618853
Bruck Syndrome 1
Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow flexion contract... OMIM:259450
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Kyphoscoliosis, Split hand, Hammertoe, Scoliosis, Decr... OMIM:145900
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Weight loss, Hy... ORPHA:747
Spondyloepiphyseal Dysplasia Congenita
Barrel-shaped chest, Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited ... OMIM:183900
Atelosteogenesis Type I
Joint dislocation, Short femur, Abnormal ossification involving the femoral head and neck, Laryng... ORPHA:1190
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Pneumonia OMIM:247800
Leopard Syndrome 1
Scapular winging, Kyphoscoliosis, Missing ribs, Pectus excavatum, Short neck, Limited elbow movem... OMIM:151100
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared metaphysis, Co... OMIM:602111
Emanuel Syndrome
Recurrent respiratory infections, Sacral dimple, Congenital hip dislocation, Kyphoscoliosis, Cryp... ORPHA:96170
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Pulmonary hypoplasia, Abnormal cartilage matrix, Respiratory insufficiency OMIM:245650
Central Core Disease
Respiratory insufficiency due to muscle weakness, Neonatal respiratory distress, Congenital hip d... ORPHA:597
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Apnea, Bilateral cryptorchidism, Distal w... OMIM:602535
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Pneumonia, Eczema, Asthma, Failure to thrive OMIM:607271
Hall-Riggs Syndrome
Metaphyseal dysplasia, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intraut... OMIM:234250
Septopreoptic Holoprosencephaly
Perisylvian polymicrogyria, Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal enc... ORPHA:280195
Greenberg Dysplasia
Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica... ORPHA:1426
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Short neck, Hemivertebrae, Abnormal lung lobation, Pectus carinatum... ORPHA:958
Spondyloepiphyseal Dysplasia, Kimberley Type
Abnormal epiphysis morphology, Platyspondyly, Short thorax, Osteoarthritis ORPHA:93283
Basal Cell Nevus Syndrome 1
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Spin... OMIM:109400
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... OMIM:218600
Flynn-Aird Syndrome
Kyphoscoliosis OMIM:136300
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Kyphoscoliosis ORPHA:300179
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Crackles, Dyspnea, Reticular pattern on pulmonary HRCT, Pulmonary fibrosis, Cough, Decreased DLCO... OMIM:614742
Kbg Syndrome
Vertebral fusion, Syndactyly, Short neck, Cryptorchidism, Rib fusion, Vertebral arch anomaly, Cut... OMIM:148050
Dystonia-Deafness Syndrome 1
Hypoplastic scapulae, Small for gestational age, Kyphoscoliosis, Femoral retroversion OMIM:607371
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent ot... OMIM:607594
Brachyolmia Type 3
Barrel-shaped chest, Short neck, Spinal cord compression, Kyphosis, Proximal femoral metaphyseal ... OMIM:113500
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Apnea, Kyphoscoliosis, Short neck, Small hand, Obesity, Scoliosis, Macroorchidism, Male hypogonad... OMIM:300055
Diamond-Blackfan Anemia 1
11 pairs of ribs, Short neck, Absent thumb, Short thumb, Hypoplastic ilia, Partial duplication of... OMIM:105650
Uruguay Faciocardiomusculoskeletal Syndrome
Hallux valgus, Congenital hip dislocation, Kyphoscoliosis, Limited elbow movement, Kyphosis, Scol... OMIM:300280
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re... OMIM:620197
13Q12.3 Microdeletion Syndrome
Recurrent respiratory infections, Kyphoscoliosis, Cryptorchidism, Obesity, Hip dysplasia, Camptod... ORPHA:412035
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Small for gestational age, Iliac crest serration, Short neck, Wide distal femoral metaphysis, Del... OMIM:613320
Immunodeficiency 52
Failure to thrive, Recurrent pneumonia, Bronchiectasis, Chronic lung disease OMIM:617514
Caudal Duplication
Spina bifida, Cryptorchidism, Abnormal sacrum morphology, Myelomeningocele, Bifid sacrum, Spinal ... ORPHA:1756
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla... ORPHA:1856
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Kyphoscoliosis, Recurrent upper respiratory tract infections, Ovoid thoracolumbar... OMIM:252930
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Hyperlordosis... OMIM:253010
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... ORPHA:2319
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Bronchiectasis OMIM:619126
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Abnormal pulmonary interstitial... OMIM:612387
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Multiple System Atrophy, Cerebellar Type
Stridor ORPHA:227510
Holt-Oram Syndrome
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... ORPHA:392
Anauxetic Dysplasia 1
Short neck, Thoracic kyphosis, Cervical cord compression, Short palm, Barrel-shaped chest, Lumbar... OMIM:607095
Mosaic Trisomy 14
Camptodactyly of finger, Short neck, Cryptorchidism, Abnormal rib morphology, Narrow chest, Failu... ORPHA:1703
Igg4-Related Thyroid Disease
Tracheal stenosis, Sclerosing cholangitis, Hashimoto thyroiditis, Thyroiditis ORPHA:64744
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Spinal cord ... ORPHA:2522
Spondyloenchondrodysplasia With Immune Dysregulation
Barrel-shaped chest, Recurrent respiratory infections, Metaphyseal dysplasia, Lumbar hyperlordosi... OMIM:607944
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphysea... OMIM:300863
Desbuquois Dysplasia 2
Short neck, Metaphyseal widening, Pectus carinatum, Knee dislocation, Narrow chest, Short phalanx... OMIM:615777
Monosomy 18P
Kyphoscoliosis, Short neck, Pectus excavatum, Enlarged thorax, Holoprosencephaly, Brachydactyly ORPHA:1598
Chromosome 2P16.1-P15 Deletion Syndrome
Arachnodactyly, Optic nerve hypoplasia, Kyphoscoliosis, Pectus excavatum, Metatarsus adductus, Pa... OMIM:612513
8Q24.3 Microdeletion Syndrome
Respiratory distress, Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Short neck,... ORPHA:508488
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Hydrocephalus, Abnormal rib morphology, Obesity, Hemivertebrae, Abnormal form of the ... ORPHA:2180
Pseudodiastrophic Dysplasia
Elbow dislocation, Platyspondyly, Phalangeal dislocation, Scoliosis ORPHA:85174
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Short neck, Barrel-shaped chest, Abnormally ossified vertebrae... ORPHA:94068
Acrorenal-Mandibular Syndrome
Hemivertebrae, Narrow chest, Hypoplasia of the ulna, Split hand, Split foot, Toe syndactyly, Hypo... OMIM:200980
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Pustule, Wheezing, Atopic dermatitis, Weight loss, C... ORPHA:171876
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Phalangeal dislocation, Short neck, Elbow dislocation, Hypoplasia of the od... OMIM:264180
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Genu varum, Fibular overgrowth... OMIM:602557
Microphthalmia, Syndromic 3
Optic nerve aplasia, Vertebral fusion, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Mis... OMIM:206900
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology OMIM:269630
Acrootoocular Syndrome
Short metacarpal, Small for gestational age, Abnormal finger flexion crease, Kyphoscoliosis, Sand... ORPHA:2980
Ataxia-Oculomotor Apraxia Type 4
Abnormal toe morphology, Obesity, Kyphoscoliosis ORPHA:459033
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short neck, Bowing of the legs, Pectus carinatum, Knee flexion contracture, Abnormal calcificatio... OMIM:271665
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short neck, Missing ribs, Hydrocephalus, Abnormal rib morphology, Trache... ORPHA:1834
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Brachydactyly, Lumbar hyperlordosis, Kyphoscoliosis, Flat capita... OMIM:271510
Spondylodysplastic Ehlers-Danlos Syndrome
Joint dislocation, Metaphyseal widening, Abnormal finger morphology, Pectus carinatum, Abnormal v... ORPHA:536471
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Large for gestational age, Short neck, Hemivertebrae, Tibial bowing, Narrow chest, Hypoplastic il... ORPHA:96334
Incontinentia Pigmenti
Finger syndactyly, Camptodactyly of finger, Absent hand, Deviation of finger, Umbilical hernia, S... ORPHA:464
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Cone-shaped epi... ORPHA:85172
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Arachnodactyly, Missing ribs, Dyspnea, Ab... ORPHA:2759
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Arachnodactyly, Kyphoscoliosis, Pectus excavatum, Pectus carinatum, Scoliosis, Biconcave vertebra... OMIM:236200
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus, Kyphoscoliosis OMIM:300886
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypogonadotropic hypogonadism, Facial palsy, Hyperlordosis, Abnormal rib morphology, Tracheoesoph... ORPHA:3068
Hypophosphatasia, Infantile
Recurrent respiratory infections, Apnea, Craniosynostosis, Bowing of the legs, Vertebral clefting... OMIM:241500
Prune Belly Syndrome
Recurrent respiratory infections, Multicystic kidney dysplasia, Congenital hip dislocation, Pectu... ORPHA:2970
Cog1-Cdg
Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Coxa valga, Rib fusion, Posterior r... ORPHA:263508
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures... OMIM:156510
Kagami-Ogata Syndrome
Long clavicles, Kyphoscoliosis, Coxa valga, Long fingers, Thin ribs, Bell-shaped thorax, Pulmonar... OMIM:608149
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Hammertoe, Decreased sensory nerve conduction velocity... OMIM:214400
Gm1-Gangliosidosis, Type Iii
Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypo... OMIM:230650
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:615139
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic ... ORPHA:217390
Odontochondrodysplasia
Respiratory distress, Bowing of the long bones, Coxa valga, Cone-shaped epiphysis, Platyspondyly,... ORPHA:166272
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Pectus excavatum, Tr... ORPHA:957
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Kyphoscoliosis, Abnormal lung morp... ORPHA:35173
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Short femur, Small for gestational age, Fractured radius, Beaded ribs, Sh... OMIM:616897
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Myelomeningocele, Abnormal rib morpho... ORPHA:2876
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Hypoplastic ilia, Abnormal sacroiliac joint morphology, Ky... ORPHA:1860
Cerebrooculofacioskeletal Syndrome 2
Small for gestational age, Camptodactyly of finger, Rocker bottom foot, Kyphoscoliosis, Intrauter... OMIM:610756
Microphthalmia, Syndromic 13
Kyphoscoliosis OMIM:300915
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Ovoid vertebral bodies, Short neck, Coxa valga, Wide anterior fontanel, Abnormality of the elbow,... ORPHA:163649
Seckel Syndrome 8
Spinal cord compression, Kyphoscoliosis OMIM:615807
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Spinal cord compression, Flared metaphysis, Abnormal respiratory s... ORPHA:93346
Camptodactyly Syndrome, Guadalajara Type 3
Short neck, Abnormal rib morphology, Small hand, Short foot, Spina bifida occulta, Thickened cort... ORPHA:488434
Hydrolethalus
Tracheal atresia ORPHA:2189
3M Syndrome
Congenital hip dislocation, Short neck, Increased vertebral height, Enlarged thorax, Clinodactyly... ORPHA:2616
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Melnick-Needles Syndrome
Recurrent respiratory infections, Bowing of the long bones, Delayed cranial suture closure, Coxa ... ORPHA:2484
Nail-Patella Syndrome
Back pain, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Spina bifida, Pectus excavatum, Patell... OMIM:161200
Severe Combined Immunodeficiency, X-Linked
Skin rash, Pneumonia, Recurrent pneumonia, Chronic oral candidiasis, Failure to thrive OMIM:300400
Congenital Contractural Arachnodactyly
Congenital kyphoscoliosis, Arachnodactyly, Camptodactyly of finger, Tracheoesophageal fistula, Sc... ORPHA:115
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Tapered toe, Large for gestational age, Tapered finger, Bilateral cryptorchidism, ... ORPHA:544488
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Hemivertebrae, Dysplastic sacrum, Cryptorchidism... OMIM:134780
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Kyphoscoliosis, Long fingers, Hip dislocation, Hip dysplasia, Pulmonar... ORPHA:447980
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Male hypogonadism, Hypergonadotropic hypogonadism, Abnormality of the cer... OMIM:307500
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... OMIM:271700
Immunodeficiency 56
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... OMIM:615207
Melnick-Needles Syndrome
Anterior concavity of thoracic vertebrae, Tibial bowing, Narrow chest, Cone-shaped epiphyses of t... OMIM:309350
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Schisis Association
Encephalocele, Small for gestational age, Spina bifida, Anencephaly, Tracheoesophageal fistula ORPHA:63862
Craniodiaphyseal Dysplasia
Optic atrophy, Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Crisponi/Cold-Induced Sweating Syndrome 1
Facial palsy, Kyphoscoliosis, Short neck, Tapered finger, Dyspnea, Elbow flexion contracture, Rad... OMIM:272430
Spinocerebellar Ataxia, Autosomal Recessive 20
Kyphoscoliosis, Scoliosis, Camptodactyly, Clinodactyly, Brachydactyly OMIM:616354
Alport Syndrome
Dyspnea, Stridor, Cough, Nephritis, Recurrent bronchitis ORPHA:63
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Short thorax, Abnormal carpal morphology, Hypopla... ORPHA:85166
Intellectual Developmental Disorder, Autosomal Recessive 78
Kyphoscoliosis, Optic neuropathy, Pectus excavatum, Asthma, Narrow chest, Clinodactyly of the 5th... OMIM:620237
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Short neck, Tibial bowing, Irregular vertebral e... OMIM:143095
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Chiari Malformation Type Ii
Inspiratory stridor OMIM:207950
Multicentric Osteolysis, Nodulosis, And Arthropathy
Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion contracture, Bro... OMIM:259600
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol... ORPHA:3082
Atelosteogenesis, Type I
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonatal death, Vert... OMIM:108720
Greenberg Dysplasia
Beaded ribs, Abnormal lung lobation, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of... OMIM:215140
Combined Oxidative Phosphorylation Deficiency 47
Toe syndactyly, Short neck, Cryptorchidism, Platyspondyly, Cone-shaped epiphyses of the distal ph... OMIM:618958
Rubinstein-Taybi Syndrome 1
Respiratory distress, Bilateral cryptorchidism, Hypoplastic iliac wing, Prominent fingertip pads,... OMIM:180849
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short neck, Short metatarsal, Femoral bowing, Tibial bowing, Narrow c... OMIM:304120
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... OMIM:617405
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Toe syndactyly, Small for gestational age, Craniosynostosis, 4-5 toe syndactyly, 3-5 toe syndacty... OMIM:300707
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Absent radius, Preaxial hand polydactyly, Hypoplasia... ORPHA:233
Osteogenesis Imperfecta, Type Xi
Protrusio acetabuli, Kyphoscoliosis, Vertebral wedging, Coxa vara, Biconcave vertebral bodies, Sc... OMIM:610968
Cerebrocostomandibular Syndrome
Neonatal respiratory distress, Hydranencephaly, Multicystic kidney dysplasia, Spina bifida, Kypho... ORPHA:1393
Geroderma Osteodysplasticum
Hyperextensibility of the finger joints, Kyphoscoliosis, Vertebral compression fracture, Femoral ... OMIM:231070
Cantu Syndrome
Broad hallux, Ovoid vertebral bodies, Short hallux, Short neck, Large for gestational age, Coxa v... OMIM:239850
Lethal Congenital Contracture Syndrome Type 1
Short neck, Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the vertebral bod... ORPHA:1486
Rahman Syndrome
Cryptorchidism, Kyphoscoliosis, Camptodactyly OMIM:617537
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Bowing of the legs, Pectus excavatum, Coxa valga, Coxa vara, Bell-shaped tho... OMIM:619131
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Stridor, Aspiration, Neonatal respiratory distress, Apnea OMIM:614653
Ullrich Congenital Muscular Dystrophy 2
Kyphoscoliosis, Facial palsy, Nocturnal hypoventilation OMIM:616470
Immunodeficiency 77
Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess OMIM:619223
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... ORPHA:178320
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Pycnodysostosis
Stridor, Overweight ORPHA:763
3Mc Syndrome 1
Sacral dimple, Single interphalangeal crease of fifth finger, Wide anterior fontanel, Short foot,... OMIM:257920
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Mucopolysaccharidosis Type 4
Joint dislocation, Bowing of the long bones, Hyperlordosis, Short neck, Kyphosis, Coxa valga, Sho... ORPHA:582
Immunodeficiency 32B
Recurrent respiratory infections, Sinusitis, Pneumonia, Bronchiectasis, Failure to thrive OMIM:226990
Spastic Paraplegia 20, Autosomal Recessive
Kyphoscoliosis, Ankle clonus, Short foot, Hammertoe, Camptodactyly, Clinodactyly, Brachydactyly OMIM:275900
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Tapered finger, Flat capital femoral epiphysis, Flattened epiphysis, Platyspondyly, Short femoral... ORPHA:157965
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Thoracic scoliosis, Optic nerve hypoplasia, Kyphoscoliosis, Metatarsus adductus, Small hand, Simp... ORPHA:300570
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Intrauterine growth retardation, Vertebral fusion, Tethere... OMIM:194190
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Multicystic kidney dysplasia, Small for gest... ORPHA:97360
Hypophosphatasia
Bowing of the long bones, Failure to thrive in infancy, Craniosynostosis, Abnormal rib morphology... ORPHA:436
Cardiac-Valvular Ehlers-Danlos Syndrome
Joint dislocation, Hallux valgus, Genu recurvatum, Thoracolumbar scoliosis, Recurrent shoulder di... ORPHA:230851
Charcot-Marie-Tooth Disease, Type 4K
Kyphoscoliosis OMIM:616684
Arthrogryposis Multiplex Congenita 5
11 pairs of ribs, Optic disc pallor, Neonatal respiratory distress, Rocker bottom foot, Kyphoscol... OMIM:618947
Bronchial Neuroendocrine Tumor
Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary interstitial morpho... ORPHA:97287
Opitz Gbbb Syndrome
Stridor, Recurrent aspiration pneumonia, Tracheoesophageal fistula, Tracheomalacia ORPHA:2745
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Hydrocephalus... ORPHA:163966
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Abnormal rib morphology, Decreased circulating total IgM, Abnor... ORPHA:2643
Frontometaphyseal Dysplasia 2
Tracheal stenosis, Stridor, Ulcerative colitis OMIM:617137
Dysosteosclerosis
Sclerotic scapulae, Delayed closure of the anterior fontanelle, Increased intervertebral space, O... OMIM:224300
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Short tibia, Ar... ORPHA:93323
Achondrogenesis Type 1B
Short neck, Short thorax, Abnormal rib morphology, Aplasia/Hypoplasia of the lungs, Short foot, N... ORPHA:93298
Leukodystrophy, Hypomyelinating, 3
Failure to thrive, Kyphoscoliosis OMIM:260600
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Short neck, Pectus carinatum, Narrow greater sciatic notch, Anterior beaking of l... OMIM:253220
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Obesity, Kyphoscoliosis ORPHA:3077
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Enlarged epiphyses, Epiphyseal dysplasia, Platyspondyly, Premature osteoarthritis OMIM:184840
Acromesomelic Dysplasia 4
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Lumb... OMIM:619636
Osteogenesis Imperfecta, Type V
Hyperextensibility of the finger joints, Vertebral wedging, Abnormal pelvic girdle bone morpholog... OMIM:610967
Vacterl With Hydrocephalus
Absence of the sacrum, Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Hypoplas... ORPHA:3412
Solar Urticaria
Dyspnea, Wheezing ORPHA:97230
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Kyphoscoliosis, Premature ovarian insufficiency, 2-3 toe syndactyly, Scoliosis ORPHA:391307
Zttk Syndrome
Unilateral lung agenesis, Craniosynostosis, Kyphosis, Optic atrophy, Rib fusion, Hemivertebrae, S... OMIM:617140
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Immunodeficiency 13
Recurrent upper respiratory tract infections, Bronchiolitis obliterans organizing pneumonia, Bron... OMIM:615518
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Back pain, Cervical spondylosis, Kyphoscoliosis ORPHA:199354
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp... OMIM:271600
Galloway-Mowat Syndrome 7
Hallux valgus, Arachnodactyly, Kyphoscoliosis, Pectus excavatum, Partial duplication of thumb pha... OMIM:618348
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Kyphoscoliosis, Abnormal auditory evoked potentials, Decreased nerve conduct... OMIM:601455
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Pectus exca... OMIM:618150
Ollier Disease
Multiple enchondromatosis, Platyspondyly, Abnormal cartilage morphology, Abnormal metaphysis morp... ORPHA:296
Osteogenesis Imperfecta, Type Xx
Kyphoscoliosis, Asymmetry of the thorax, Narrow chest, Wormian bones, Intrauterine growth retarda... OMIM:618644
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Aqueductal stenosis, Abno... ORPHA:3035
Mucolipidosis Type Ii
Respiratory failure requiring assisted ventilation, Recurrent respiratory infections, Weight loss... ORPHA:576
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Pelizaeus-Merzbacher Disease
Failure to thrive, Congenital laryngeal stridor OMIM:312080
Achondroplasia
Respiratory distress, Bowing of the legs, Femoral bowing, Narrow greater sciatic notch, Trident h... OMIM:100800
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... OMIM:250420
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Stridor, Conjunctivitis, Pulmonary arteri... ORPHA:505248
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Classical-Like Ehlers-Danlos Syndrome Type 2
Joint dislocation, Hallux valgus, Thoracic scoliosis, Sacral dimple, Arachnodactyly, Sandal gap, ... ORPHA:536532
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Spina bifida, Camptodactyly OMIM:211960
Cooper-Jabs Syndrome
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Resp... ORPHA:1488
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hip contracture, Congenital hip dislocation, Flexion contractur... ORPHA:2020
Larsen-Like Syndrome
Joint dislocation, Kyphoscoliosis, Wide anterior fontanel, Radial deviation of the 4th finger, Cl... OMIM:608545
Hallermann-Streiff Syndrome
Recurrent respiratory infections, Wormian bones, Small for gestational age, Spina bifida, Hyperlo... OMIM:234100
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Small for gestational age, B... OMIM:616229
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon... OMIM:619698
Focal Dermal Hypoplasia
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifid... OMIM:305600
Cole-Carpenter Syndrome 2
Wide cranial sutures, Pectus excavatum, Kyphosis, Hydrocephalus, Thin ribs, Platyspondyly, Lambdo... OMIM:616294
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Increased intervertebral space, Narrow greater sciatic notch, Cervical co... ORPHA:508533
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Wide anterior fontanel, Abnormal rib m... ORPHA:2021
Spondylometaphyseal Dysplasia, Pagnamenta Type
Femoral bowing, Platyspondyly, Thoracic kyphosis, Wormian bones, Short 4th metacarpal, Broad thum... OMIM:619638
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Short palm, Hypoplastic iliac wing, Short phalanx of... OMIM:611717
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Pneumothorax, Gastrointestin... ORPHA:79404
Spinal Arteriovenous Metameric Syndrome
Spinal arteriovenous malformation, Abnormal spinal cord morphology, Abnormality of the vertebral ... ORPHA:53721
Doors Syndrome
11 pairs of ribs, Respiratory distress, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagit... ORPHA:79500
Musculocontractural Ehlers-Danlos Syndrome
Recurrent joint dislocation, Cervical kyphosis, Kyphoscoliosis, Tapered finger, Craniosynostosis,... ORPHA:2953
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Hemivertebrae, Simplified gyral pattern, Emphysema, Decreased circulati... ORPHA:500150
Trisomy 20P
Finger syndactyly, Camptodactyly of finger, Spina bifida, Short neck, Kyphosis, Preaxial hand pol... ORPHA:261318
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Stridor, Pulmonary arterial hypertension OMIM:620029
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otitis media, C... OMIM:244400
Tetrasomy 15Q26
Arachnodactyly, Kyphoscoliosis, Hydrocephalus, Syringomyelia, Camptodactyly, Intrauterine growth ... OMIM:614846
Cole-Carpenter Syndrome
Communicating hydrocephalus, Crumpled long bones, Bowing of the long bones, Kyphosis, Abnormal ri... ORPHA:2050
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Kagami-Ogata Syndrome
Respiratory failure requiring assisted ventilation, Kyphoscoliosis, Large for gestational age, Sh... ORPHA:254519
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Arthritis, Limitation of knee mobility, I... OMIM:203500
Congenital Tracheal Stenosis
Respiratory distress, Abnormal bronchus morphology, Neonatal asphyxia, Abnormal lung morphology, ... ORPHA:141127
Trisomy 13
Kyphosis, Postaxial hand polydactyly, Cryptorchidism, Optic atrophy, Abnormal rib morphology, Abn... ORPHA:3378
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Barrel-shaped chest, Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivo... OMIM:226980
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long toe, Arachnodactyly, Kyphoscoliosis, Cryptorchidism, Testicular torsion ORPHA:75496
Grant Syndrome
Joint dislocation, Bowing of the long bones, Abnormal rib morphology, Abnormal pelvic girdle bone... ORPHA:2097
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Tracheal stenosis, Respiratory insufficiency ORPHA:163979
Mosaic Trisomy 9
Rocker bottom foot, Camptodactyly of finger, Short neck, Elbow dislocation, Spina bifida, Cryptor... ORPHA:99776
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Vater/Vacterl Association
Syndactyly, Occipital encephalocele, Tethered cord, Spina bifida, Absent radius, Short thumb, Hyp... OMIM:192350
Chondroectodermal Dysplasia With Night Blindness
Abnormality of the knee, Epiphyseal dysplasia, Metaphyseal dysplasia, Fractures of the long bones... ORPHA:319195
Congenital Disorder Of Glycosylation, Type Iic
Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia OMIM:266265
Osteogenesis Imperfecta, Type X
Respiratory distress, Multiple rib fractures, Thoracic scoliosis, Chronic lung disease, Short fem... OMIM:613848
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Brachyolmia Type 2
Platyspondyly OMIM:613678
De Barsy Syndrome
Recurrent sinopulmonary infections, Congenital hip dislocation, Kyphoscoliosis, Delayed closure o... ORPHA:2962
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Weight loss, Salmonella... OMIM:209950
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmo... ORPHA:70578
Opsismodysplasia
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... OMIM:258480
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Small for gestational age, Short neck, Hyperlordosis, Sho... OMIM:612921
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Atrophic gastritis, Pneumonia, Erythema nodosum, Asthma, Recurr... OMIM:614700
1P36 Deletion Syndrome
11 pairs of ribs, Camptodactyly of finger, Kyphosis, Cryptorchidism, Optic atrophy, Rib fusion, O... ORPHA:1606
Waardenburg Syndrome Type 1
Aganglionic megacolon, Spina bifida, Meningocele, Scoliosis, Sprengel anomaly ORPHA:894
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Postaxial polydactyly, Missing ribs, Hypoplastic ischia, Ulnar bowing, Hydrocephal... OMIM:617866
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnor... ORPHA:1427
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Episodic Ataxia Type 1
Respiratory distress, Kyphoscoliosis, Scoliosis ORPHA:37612
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Py... OMIM:242700
Paternal Uniparental Disomy Of Chromosome 5
Abnormal fibular epiphysis morphology, Short lower limbs, Kyphoscoliosis ORPHA:96190
Tularemia
Respiratory distress, Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Otitis media, Cough... ORPHA:3392
Fraser Syndrome 3
Abnormal lung lobation, Tracheal atresia OMIM:617667
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Platyspondyly, Abnormal intervertebral disk morphology, Osteoarthritis, Pulmonary embolism ORPHA:1345
Warburg Micro Syndrome 3
Kyphoscoliosis, Optic atrophy, Ankle clonus, Clinodactyly of the 5th finger, Polymicrogyria, Decr... OMIM:614222
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Lumbar hyperlordosis, Enlarged joints, Large tarsal bones, Recurrent pneumo... OMIM:215150
Morquio Syndrome C
Platyspondyly OMIM:252300
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary artery dilatation, Neonatal respiratory distress, Pulmonary artery stenosis, Partial an... OMIM:265380
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis OMIM:618648
Acrocapitofemoral Dysplasia
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... OMIM:607778
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Delayed cranial suture closure, Kyphoscoliosis, Optic atrophy, Hypoplastic pubic... OMIM:210730
Anophthalmia Plus Syndrome
Deviation of finger, Vertebral segmentation defect, Spina bifida ORPHA:1104
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Pectus carinatum, Tibial bowing, Hypoplastic iliac wing, Abnormal vertebra... ORPHA:93315
Chromosome 17P13.1 Deletion Syndrome
Hallux valgus, Sacral dimple, Arachnodactyly, Broad hallux, Proximal placement of thumb, Short ne... OMIM:613776
Spinocerebellar Ataxia, Autosomal Recessive 31
Pectus excavatum, Lumbar kyphoscoliosis, Optic atrophy, Clinodactyly of the 5th finger OMIM:619422
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Platy... OMIM:619598
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Bronchiectasis, Cough OMIM:619468
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Hypogonadotropic hypogonadism, Kyphoscoliosis OMIM:612079
Achondrogenesis Type 1A
Multiple rib fractures, Short neck, Short thorax, Aplasia/Hypoplasia of the lungs, Short foot, Na... ORPHA:93299
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Metaphyseal widening, Irregular epiphyses,... OMIM:612813
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Periventricular heterotopia, Kyphosis, Metaphyseal widening, Hydrocepha... OMIM:618476
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Combined Oxidative Phosphorylation Deficiency 32
Optic atrophy, Kyphoscoliosis OMIM:617664
Sponastrime Dysplasia
Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epip... ORPHA:93357
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Kyphosis, Recurrent upper re... ORPHA:583
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Bronchiectasis, Recurrent upper respiratory tract infections OMIM:608184
Autosomal Recessive Stickler Syndrome
Epiphyseal dysplasia, Genu valgum, Irregular vertebral endplates, Platyspondyly, Abnormal epiphys... ORPHA:250984
Achondrogenesis, Type Ia
Barrel-shaped chest, Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sa... OMIM:200600
Stickler Syndrome, Type I
Arthropathy, Arachnodactyly, Pectus excavatum, Kyphosis, Osteoarthritis, Irregular femoral epiphy... OMIM:108300
Chromosome 1P36 Deletion Syndrome, Distal
Abnormal lung lobation, Clinodactyly of the 5th finger, Pachygyria, Wide anterior fontanel, Crypt... OMIM:607872
Coffin-Siris Syndrome 1
Recurrent respiratory infections, Sacral dimple, Sandal gap, Aplasia/Hypoplasia of the patella, A... OMIM:135900
Frontometaphyseal Dysplasia 1
Stridor OMIM:305620
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Chronic bronchitis, Failure to thrive OMIM:242860
Intellectual Developmental Disorder, Autosomal Dominant 42
Stridor, Asthma, Failure to thrive OMIM:616973
Cholestasis, Progressive Familial Intrahepatic, 1
Wheezing, Failure to thrive, Epistaxis OMIM:211600
Bruck Syndrome
Bowing of the long bones, Kyphosis, Respiratory insufficiency, Platyspondyly, Scoliosis, Wormian ... ORPHA:2771
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Neuropathic spinal arthropathy, Kyphoscoliosis, Pectus carinatum, Camptodactyly, Clinodactyly, Br... ORPHA:397709
Williams Syndrome
Abnormal form of the vertebral bodies, Vertebral segmentation defect, Clinodactyly of the 5th fin... ORPHA:904
Tatton-Brown-Rahman Syndrome
Kyphoscoliosis, Cryptorchidism, Short toe, Obesity, Widely spaced toes, Umbilical hernia ORPHA:404443
Hajdu-Cheney Syndrome
Kyphoscoliosis, Short neck, Cryptorchidism, Hydrocephalus, Tall lumbar vertebral bodies, Foot acr... OMIM:102500
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Inspiratory stridor ORPHA:100050
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Kyphoscoliosis, Short neck, Pectus excavatum, Long finge... OMIM:309583
Monosomy 18Q
Arachnodactyly, Kyphoscoliosis, Tapered finger, Pectus excavatum, Bilateral cryptorchidism, Hydro... ORPHA:1600
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Recurrent upper respiratory tract... ORPHA:436159
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Bronchomalacia, Asthma, Recurrent upper respiratory tract infections, ... OMIM:619752
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and fusion, Synos... ORPHA:90652
Craniodiaphyseal Dysplasia, Autosomal Dominant
Papilledema, Thickened ribs, Optic atrophy, Diaphyseal sclerosis, Facial diplegia OMIM:122860
Craniofacioskeletal Syndrome
Tracheal stenosis OMIM:300712
Developmental And Epileptic Encephalopathy 41
Kyphoscoliosis OMIM:617105
Slc35A1-Cdg
Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia ORPHA:238459
Schinzel-Giedion Syndrome
Respiratory distress, Abnormal clavicle morphology, Short neck, Renal cyst, Tibial bowing, Broad ... ORPHA:798
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Tethered cord, Kyphoscoliosis, Hype... ORPHA:573278
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Fused cervical vertebrae, Pseudoepiphyses, ... OMIM:157800
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Short neck, Lissencephaly, S... OMIM:616038
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Ovoid vertebral bodies, Metaphyseal ... ORPHA:85167
Geroderma Osteodysplastica
Vertebral compression fracture, Hip dislocation, Abnormal form of the vertebral bodies, Pectus ca... ORPHA:2078
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Kyphosis, Wide anterior fontanel, Thin ribs, Tibial bowing, Slender long bon... OMIM:259420
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Otitis media, Erythroderma, ... ORPHA:169160
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Craniosynostosis, Split hand, Abnormal rib morphology, Aplasia/Hypoplasia of t... ORPHA:2145
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Elbow dislocation, Short thumb, Hypopl... ORPHA:3258
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis, Epididymitis,... ORPHA:183675
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Short metatarsal, Coxa vara, Deformed humeral heads, Platyspondy... OMIM:601438
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Hip contracture, Overlapping toe, Rocker bottom foot, Kyphoscoliosis, Tapered finger, 4-5 toe syn... ORPHA:488642
Schimke Immunoosseous Dysplasia
Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodies, Short neck, Abnormal imm... OMIM:242900
Autosomal Recessive Spastic Paraplegia Type 23
Hip dislocation, Kyphoscoliosis ORPHA:101003
Osteogenesis Imperfecta, Type Xvii
Bowed humerus, Kyphoscoliosis, Hip dislocation, Platyspondyly, Syringomyelia, Vertebral compressi... OMIM:616507
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Short neck, Abnormal optic disc morphology, Thoracic kyphosis, Short palm, Cl... ORPHA:508498
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Facial palsy, Spinal dysraphism ORPHA:1114
Camptodactyly Syndrome, Guadalajara, Type Iii
Short neck, Spina bifida occulta, Absent phalangeal crease, Camptodactyly, Joint contracture of t... OMIM:611929
Frank-Ter Haar Syndrome
Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Delayed crani... OMIM:249420
Primary Dystonia, Dyt4 Type
Eunuchoid habitus, Respiratory distress, Kyphoscoliosis ORPHA:98805
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Wheezing, Bronchiectasis, Recurrent pneumonia, ... OMIM:300755
Radio-Renal Syndrome
Respiratory distress, Multicystic kidney dysplasia, Short neck, Dyspnea, Hypoplasia of the radius... ORPHA:3015
Focal Dermal Hypoplasia
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Camptodactyly of finger, Spina b... ORPHA:2092
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Recurrent pne... OMIM:618282
Loeys-Dietz Syndrome 6
Arachnodactyly, Knee osteoarthritis, Scoliosis, Hip osteoarthritis, Intervertebral disc degeneration OMIM:619656
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Nephritis, Infectious encephalitis, ... ORPHA:2552
Bruck Syndrome 2
Elbow flexion contracture, Femoral bowing, Knee flexion contracture, Pectus carinatum, Platyspond... OMIM:609220
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini... ORPHA:662
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Coxa v... ORPHA:1517
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Lumbar hyperlordosis, Kyphosis, Wide anterior fontanel, Hydr... OMIM:616482
Immunodeficiency 58
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Eczema, Allergic rhiniti... OMIM:618131
Townes-Brocks Syndrome 2
Spina bifida occulta, Scoliosis OMIM:617466
Pontocerebellar Hypoplasia, Type 10
Kyphoscoliosis, Tapered finger, Short neck, Cryptorchidism, Simplified gyral pattern, Syringomyelia OMIM:615803
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... ORPHA:93317
Common Variable Immunodeficiency
Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Bronchiectasis, Restri... ORPHA:1572
Smith-Lemli-Opitz Syndrome
Tracheal stenosis, Abnormal lung lobation, Pulmonary hypoplasia ORPHA:818
Thymic Neuroendocrine Tumor
Weight loss, Abnormal breath sound, Cough ORPHA:97289
Thrombocytopenia-Absent Radius Syndrome
Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th fing... OMIM:274000
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... OMIM:250220
Sirenomelia
Absence of the sacrum, Spina bifida, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia o... ORPHA:3169
Geleophysic Dysplasia 1
Tracheal stenosis OMIM:231050
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Large for gestational age, Abnormal thumb morphology, Metatarsus ad... ORPHA:500095
Loeys-Dietz Syndrome 5
Scapular winging, Failure to thrive in infancy, Arachnodactyly, Kyphoscoliosis, Pectus excavatum,... OMIM:615582
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Myocarditis, Obesity, Respiratory failure, Paroxysmal dyspn... ORPHA:563
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Kyphoscoliosis OMIM:618339
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... OMIM:300106
Bent Bone Dysplasia Syndrome 2
Bowed humerus, Short neck, Ulnar bowing, Thin ribs, Femoral bowing, Coronal cleft vertebrae, Plat... OMIM:620076
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Thin ribs, P... OMIM:312150
Pallister-Hall Syndrome
Large for gestational age, Hemivertebrae, Abnormal lung lobation, Holoprosencephaly, Mesoaxial po... ORPHA:672
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Joint dislocation, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Kyphoscoliosi... OMIM:225400
Pagod Syndrome
Encephalocele, Abnormal clavicle morphology, Multicystic kidney dysplasia, Spina bifida, Meningoc... ORPHA:991
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Intrauterine growth retardation, Abnormal rib morphology, Abnormality of neuronal migration, Cryp... ORPHA:2772
Dental Anomalies And Short Stature
Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vertebral interpedicular di... OMIM:601216
Neu-Laxova Syndrome
Abnormal cortical gyration, Spina bifida, Abnormality of neuronal migration, Macrogyria, Lissence... ORPHA:2671
Basilar Impression, Primary
Kyphoscoliosis, Short neck, Horner syndrome, Syringomyelia, Abnormal cervical myelogram OMIM:109500
Meier-Gorlin Syndrome 1
Respiratory distress, Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, ... OMIM:224690
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Interstitial pneumonitis, Restrictive ventilatory defect, Respiratory failure, Recurrent upper re... OMIM:620296
Pseudoleprechaunism Syndrome, Patterson Type
Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyphoscoliosis, Metaphy... ORPHA:2976
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Clinodactyly of the 5th finger, Kyphoscoliosis OMIM:620075
Schwartz-Jampel Syndrome
Apnea, Short neck, Coxa vara, Pectus carinatum, Wrist flexion contracture, Abnormally ossified ve... ORPHA:800
Stickler Syndrome Type 1
Abnormal vertebral epiphysis morphology, Platyspondyly, Osteoarthritis, Abnormal epiphysis morpho... ORPHA:90653
Zimmermann-Laband Syndrome 1
Hyperextensibility of the finger joints, Scoliosis, Short distal phalanx of toe, Umbilical hernia... OMIM:135500
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Kyphoscoliosis, Hip dislocation, Intrauterine growth retardation, Recurrent lower respiratory tra... OMIM:618005
Paramyotonia Congenita Of Von Eulenburg
Neonatal inspiratory stridor ORPHA:684
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Abnormal rib morphology, Aplasia/Hypo... ORPHA:2167
Cat-Eye Syndrome
Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology ORPHA:195
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia OMIM:618253
Popliteal Pterygium Syndrome
Cryptorchidism, Popliteal pterygium, Cutaneous finger syndactyly, Intercrural pterygium, Spina bi... OMIM:119500
Autosomal Recessive Spastic Paraplegia Type 77
Bilateral cryptorchidism, Hip dysplasia, Sudden episodic apnea, Kyphoscoliosis ORPHA:466722
Neonatal Alloimmune Neutropenia
Pneumonia ORPHA:464370
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Recurrent upper respiratory tract infections, Ovoid thoracolumbar vertebrae, Scol... OMIM:252900
Robinow Syndrome, Autosomal Dominant 2
Sacral dimple, Brachydactyly, Kyphoscoliosis, Cryptorchidism, Partial duplication of thumb phalan... OMIM:616331
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Wide anteri... OMIM:610915
Gm1-Gangliosidosis, Type Ii
Coxa valga, Optic atrophy, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis, Thoracolumbar ... OMIM:230600
Cardiocranial Syndrome, Pfeiffer Type
Episodic tachypnea, Abnormal tracheal morphology ORPHA:2872
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... ORPHA:98897
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Intrauterine ... ORPHA:1506
Renpenning Syndrome
Cachexia, Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodactyly of t... ORPHA:3242
Czech Dysplasia
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa... OMIM:609162
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Thin ribs, P... OMIM:253290
Atelosteogenesis Type Ii
Cervical kyphosis, Short neck, Narrow chest, Short phalanx of finger, Broad metacarpals, Hypoplas... ORPHA:56304
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Asthma, R... OMIM:243700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Sinusitis, Pneumonia, Anterior rib cupping, Horizontal inferio... OMIM:102700
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, Atelectasis, Cough, Bronchogenic ... ORPHA:2357
Gm1 Gangliosidosis Type 1
Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Platyspondyly, Flared iliac wing,... ORPHA:79255
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... OMIM:263520
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Lateral clavicle ho... OMIM:617895
Van Den Ende-Gupta Syndrome
Stridor OMIM:600920
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Tapered finger, Coxa valga, Kyphosis, Cryptorchidism, Hemivertebrae, Scoliosis, R... OMIM:301040
Jacobsen Syndrome
Recurrent respiratory infections, Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Multic... ORPHA:2308
Knobloch Syndrome 1
Optic disc pallor, Occipital encephalocele, Peripapillary atrophy, Occipital meningocele, Spina b... OMIM:267750
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... OMIM:200610
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal thumb morphology, Macroorchidism, Kyphoscoliosis ORPHA:324410
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Cough, Dyspnea, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weight loss, Tubulointer... ORPHA:139402
Melioidosis
Foot osteomyelitis, Lung abscess, Pneumonia, Respiratory tract infection, Osteoarthritis, Hepatit... ORPHA:31202
Hurler Syndrome
Abnormal clavicle morphology, Recurrent respiratory infections, Camptodactyly of finger, Short ne... ORPHA:93473
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida ORPHA:2476
Complete Atrioventricular Septal Defect
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... ORPHA:1329
Osteoporosis-Pseudoglioma Syndrome
Barrel-shaped chest, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platyspondyly... OMIM:259770
Mevalonic Aciduria
Optic disc pallor, Failure to thrive, Failure to thrive in infancy, Kyphoscoliosis, Increased cir... OMIM:610377
You-Hoover-Fong Syndrome
Pectus excavatum, Clinodactyly, Kyphoscoliosis, Brachydactyly OMIM:616954
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress, Small for gestational age, Anterior rib cupp... OMIM:260400
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Myhre Syndrome
Short neck, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Cryptorchidism, Short toe, Obes... OMIM:139210
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis of the small joints of the hand, Arachnodactyly, Protrusio acetabuli, Camptodactyl... ORPHA:284984
Campomelia, Cumming Type
Abnormally ossified vertebrae, Bowing of the long bones, Multicystic kidney dysplasia, Pancreatic... ORPHA:1318
Gm1 Gangliosidosis
Recurrent respiratory infections, Camptodactyly of finger, Hyperlordosis, Kyphosis, Optic atrophy... ORPHA:354
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele, Supernumerary ribs, Supernumerary vertebrae, Sprengel anomaly OMIM:193500
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Short neck, Multiple joint dislocation, Pectus carinatum, Knee dislocation, Shoulder dislocation,... OMIM:245600
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short fourth metatarsal, Short metacarpal, Overlapping toe, Thoracolumbar scoliosis, Craniosynost... OMIM:616723
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... OMIM:211350
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Cone-shaped epiphysis, Platyspondyly ORPHA:71267
Iniencephaly
Encephalocele, Rocker bottom foot, Spina bifida, Hyperlordosis, Myelomeningocele, Absent vertebra... ORPHA:63259
Peters Plus Syndrome
Sacral dimple, Toe syndactyly, Multicystic kidney dysplasia, Short neck, Cryptorchidism, Short to... ORPHA:709
Diabetic Embryopathy
Cryptorchidism, Hydrocephalus, Abnormal sacrum morphology, Spinal dysraphism, Vertebral segmentat... ORPHA:1926
Stuve-Wiedemann Syndrome 1
Enlarged joints, Apnea, Short neck, Femoral bowing, Tibial bowing, Knee flexion contracture, Shor... OMIM:601559
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Fusariosis
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Productive cough, Keratitis, ... ORPHA:228119
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Charcot-Marie-Tooth Disease Type 4B2
Reduced vital capacity, Decreased distal sensory nerve action potential, Kyphoscoliosis, Optic at... ORPHA:99956
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bodies, Thin rib... ORPHA:73230
Ane Syndrome
Motor neuron atrophy, Hypogonadotropic hypogonadism, Kyphoscoliosis ORPHA:157954
Hall-Riggs Syndrome
Platyspondyly, Abnormal epiphysis morphology, Scoliosis, Abnormal metaphysis morphology, Failure ... ORPHA:2107
Kyphoscoliotic Ehlers-Danlos Syndrome
Congenital kyphoscoliosis, Congenital hip dislocation, Arachnodactyly, Kyphoscoliosis, Pectus exc... ORPHA:536545
Koolen-De Vries Syndrome Due To A Point Mutation
Joint dislocation, Calcaneovalgus deformity, Pectus carinatum, Prominent fingertip pads, Arachnod... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint dislocation, Calcaneovalgus deformity, Pectus carinatum, Prominent fingertip pads, Arachnod... ORPHA:363958
Atypical Werner Syndrome
Short palm, Premature ovarian insufficiency, Rocker bottom foot, Abnormal thorax morphology, Decr... ORPHA:79474
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Large for gest... ORPHA:457359
Nocardiosis
Respiratory distress, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysema, Infectious e... ORPHA:31204
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Decreased nasal nitric oxide, Bronchiectasis, Productive cough OMIM:615434
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... OMIM:252600
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Tapered fing... ORPHA:2215
Congenital Heart Block
Pleural effusion, Crackles ORPHA:60041
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl... OMIM:601356
Noonan Syndrome 1
Male infertility, Pectus excavatum of inferior sternum, Failure to thrive in infancy, Kyphoscolio... OMIM:163950
Fanconi Anemia
Abnormal femur morphology, Triphalangeal thumb, Clinodactyly of the 5th finger, Finger syndactyly... ORPHA:84
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Femoral bowing, Thin ribs, Biconcave vertebral bodies, Wormian bones, U... OMIM:617952
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Sclerosteosis 1
Papilledema, Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, Optic atrophy, 2-3 fi... OMIM:269500
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic mucocutaneous c... ORPHA:911
Short-Rib Thoracic Dysplasia 12
Short neck, Bowing of the legs, Thoracic dysplasia, Narrow chest, Holoprosencephaly, Short palm, ... OMIM:269860
Dysosteosclerosis
Coarse metaphyseal trabecularization, Optic atrophy, Hypoplastic vertebral bodies, Irregular vert... ORPHA:1782
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl... OMIM:613091
Immunodeficiency 12
Skin rash, Cheilitis, Bronchiectasis, Recurrent aphthous stomatitis, Decreased body weight, Recur... OMIM:615468
Marfan Syndrome
Pulmonary artery dilatation, Genu recurvatum, Arachnodactyly, Kyphoscoliosis, Equinus calcaneus, ... OMIM:154700
Riddle Syndrome
Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo... ORPHA:420741
Trisomy 18
Camptodactyly of finger, Cachexia, Spina bifida, Cryptorchidism, Postaxial hand polydactyly, Abno... ORPHA:3380
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent upper respiratory tract infections, Pneumonia, Chronic bronchitis OMIM:614069
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1647
Spondylo-Ocular Syndrome
Platyspondyly, Abnormal intervertebral disk morphology, Thoracic kyphosis, Short neck ORPHA:85194
22Q11.2 Deletion Syndrome
Impaired T cell function, Short neck, Abnormal lung lobation, Arachnodactyly, Spina bifida, Atele... ORPHA:567
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Lymphadenitis, Chronic pulmonary obstruction, Recurrent pneumon... OMIM:618986
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Coxa valga, Wide anterior fontanel, Vertebral arch anomaly, Abno... ORPHA:85184
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Interstitial pneumonitis, ... OMIM:614878
Schimke Immuno-Osseous Dysplasia
Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodies, Impaired T cell function... ORPHA:1830
Lowry-Wood Syndrome
Epiphyseal dysplasia, Brachydactyly, Elbow dislocation, Coxa vara, Irregular epiphyses, Platyspon... ORPHA:1824
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Failure to thrive in infancy, Fused cervical vertebrae, Joint swelling, Pul... OMIM:612852
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent ... OMIM:601495
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Short neck, Delayed epiphyseal ossification, Preaxial polydactyly, Microlissencephaly, Knee flexi... OMIM:210710
Osteogenesis Imperfecta
Cervical kyphosis, Abnormal tibia morphology, Osteoarthritis, Abnormal femur morphology, Abnormal... ORPHA:666
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Lumbar hyperlordosis, Aganglionic megacolon, Flaring of lower rib cage, Hy... OMIM:250250
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Postaxial polydactyly, Unicoronal synostosis, Cryptorchidism, Squared iliac bones,... OMIM:616300
Restrictive Dermopathy 1
Rocker bottom foot, Kyphoscoliosis, Thin clavicles, Wide anterior fontanel, Hydropic placenta, Ov... OMIM:275210
Craniometadiaphyseal Dysplasia
Broad long bones, Coxa valga, Cubitus valgus, Wide anterior fontanel, Flared metaphysis, Genu val... OMIM:269300
Occipital Horn Syndrome
Short humerus, Orthostatic hypotension, Persistent open anterior fontanelle, Pelvic bone exostose... OMIM:304150
Gm1-Gangliosidosis, Type I
Thickened ribs, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Intrauterine growt... OMIM:230500
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Osteoglophonic Dysplasia
Respiratory distress, Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoar... OMIM:166250
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Cryptorchidism, Patellar aplasia, Abnormal rib morphology, N... ORPHA:96061
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Sirenomelia, Bifid sternum ORPHA:63260
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
X-Linked Intellectual Disability, Snyder Type
Long toe, Arachnodactyly, Kyphoscoliosis, Pectus excavatum, Kyphosis, Cryptorchidism, Slender toe... ORPHA:3063
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormal toe morphology, Abnormal finger morphology, Kyphoscoliosis OMIM:163200
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Hydrocephalus, Meningocele, An... ORPHA:1908
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Thin ribs, Lissencephaly, Decreased body weight, Polymicrogyria OMIM:614833
Incontinentia Pigmenti
Kyphoscoliosis, Optic atrophy, Supernumerary ribs, Hemivertebrae OMIM:308300
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Femoral bowing, Narrow chest, Abnormality of the wrist, Abnormal vertebral morphology, Elbow anky... ORPHA:95699
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu recurvatum, Arachnodactyly, Craniosynostosis, Lateral clavicle hook, Pectus excavatum, Metap... OMIM:182212
Hypothyroidism, Congenital, Nongoitrous, 2
Stridor OMIM:218700
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Aspiration pneumonia, Cough ORPHA:216866
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Bowing of the long bones, Aplastic clavicle, Short thorax, Flared metaphysis, P... ORPHA:50945
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae, Recurrent upper respiratory tract infections OMIM:252920
Mucolipidosis Ii Alpha/Beta
Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the odontoid process, Split han... OMIM:252500
Fraser Syndrome
Tracheal stenosis, Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2052
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... ORPHA:39812
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ... ORPHA:93324
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Cough, Recurrent cutaneous fungal infe... ORPHA:276
Pulmonary Alveolar Microlithiasis
Bronchitis, Respiratory tract infection, Nonproductive cough, Dyspnea, Tachypnea, Pleural thicken... ORPHA:60025
Floating-Harbor Syndrome
11 pairs of ribs, Prominent metopic ridge, Ivory epiphyses of the distal phalanges of the hand, B... OMIM:136140
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulde... OMIM:620369
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Recurrent respiratory infections, Myositis, Psoriasiform dermatitis, Osteom... ORPHA:37042
Floating-Harbor Syndrome
11 pairs of ribs, Short metacarpal, Enlarged joints, Small for gestational age, Brachydactyly, Ky... ORPHA:2044
Wrinkly Skin Syndrome
Recurrent sinopulmonary infections, Congenital hip dislocation, Kyphoscoliosis, Delayed closure o... ORPHA:2834
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Abnormal f... ORPHA:2769
Loeys-Dietz Syndrome 3
Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Osteoarthritis, Pneumothorax, Knee osteoar... OMIM:613795
3Q27.3 Microdeletion Syndrome
Arachnodactyly, Kyphoscoliosis ORPHA:397695
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overlapping fingers, Short neck, Femoral bowing, Short long bone, Pulmonary h... OMIM:617022
Lymphangiectasia, Intestinal
Stillbirth, Decreased circulating IgG level, Prominent floating ribs OMIM:152800
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... ORPHA:51636
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Respir... ORPHA:36234
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Rhinitis, Periodontitis... ORPHA:486
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Recurrent upper respiratory tract infections... OMIM:616100
Hydrolethalus Syndrome 1
Tracheal stenosis, Abnormal lung lobation OMIM:236680
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Pneumonia ORPHA:319552
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Distal Deletion 12Q
Failure to thrive in infancy, Broad hallux, Kyphoscoliosis, Short neck, Overlapping toe, Wide ant... ORPHA:96149
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... OMIM:307200
Digeorge Syndrome
Pilonidal sinus, Impaired T cell function, Atelectasis, Asthma, Chronic pulmonary obstruction, Re... OMIM:188400
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Small for gestational age, Kyphoscoliosis, Short thumb, Cryptorchidis... OMIM:268400
Monosomy 9Q22.3
Short neck, Pectus excavatum, Large for gestational age, Kyphosis, Hydrocephalus, Abnormal rib mo... ORPHA:77301
Oculoauricular Syndrome
Spina bifida occulta OMIM:612109
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Thoracic dysp... OMIM:208500
Spondyloenchondrodysplasia
Metaphyseal dysplasia, Pneumonia, Bowing of the legs, Hypoplastic ilia, Kyphosis, Pectus carinatu... ORPHA:1855
Kenny-Caffey Syndrome, Type 1
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Small hand, Thin ribs... OMIM:244460
Atypical Progressive Supranuclear Palsy Syndrome
Kyphoscoliosis ORPHA:99750
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent lower ... OMIM:600802
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Occipital Horn Syndrome
Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short palm, Large iliac wing, Abnormali... ORPHA:198
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... OMIM:600002
Omenn Syndrome
Failure to thrive, Pneumonia, Thyroiditis, Erythroderma ORPHA:39041
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Tachypnea, Bell-shaped thorax, Pulmonary arterial hypertension, Failure to thrive... OMIM:614857
Q Fever
Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditi... ORPHA:781
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Inflammatory abnormality of the skin, Small for gestational age, Pneumonia,... ORPHA:26793
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... OMIM:609945
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, Pulmon... ORPHA:2519
Calvarial Doughnut Lesions With Bone Fragility
Platyspondyly, Scoliosis, Femoral bowing OMIM:126550
Holoprosencephaly
Encephalocele, Failure to thrive in infancy, Short neck, Cryptorchidism, Hydrocephalus, Optic atr... ORPHA:2162
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Pneumonia, Recurrent upper respiratory tract infections, Otitis media, Recurrent lower... OMIM:613179
Cutis Laxa, Autosomal Recessive, Type Iid
Kyphoscoliosis, Bilateral cryptorchidism, Pneumothorax, Hip dislocation, Hip dysplasia, Camptodac... OMIM:617403
Trisomy 1Q
Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial h... ORPHA:261344
Goodpasture Syndrome
Glomerulonephritis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Weigh... OMIM:233450
Amish Lethal Microcephaly
Optic atrophy, Spina bifida, Lissencephaly ORPHA:99742
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasi... OMIM:276820
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Abnormal rib morphology, Femoral bowin... ORPHA:83
Spondyloocular Syndrome
Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Unilateral cryptorchidism, Long finger... OMIM:605822
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm... ORPHA:249
Cloacal Exstrophy
Spina bifida, Abnormal tibia morphology, Myelomeningocele, Hemivertebrae, Absent foot, Abnormal f... ORPHA:93929
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Optic disc pallor, Thickened ribs, Pneumonia, Craniosynostosis, Shor... ORPHA:309282
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Short neck, Metaphyseal widening, Irregular vertebral endplates, Metaphysea... ORPHA:99646
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Protrusio acetabuli, Femoral r... OMIM:610682
Ulbright-Hodes Syndrome
Respiratory distress, Short neck, Ovoid thoracolumbar vertebrae, Phocomelia, Short metacarpal, Cr... ORPHA:3404
Congenital Gerbode Defect
Crackles, Dyspnea, Pulmonary arterial hypertension, Bacterial endocarditis, Constrictive pericard... ORPHA:99095
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Small for gestational age, Large for gestational age, Large placenta, Coat hanger sign of ribs, U... ORPHA:254534
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Cryptorchidism, Split hand, Abnormal rib morphology, Popliteal... ORPHA:1300
Diffuse Cutaneous Mastocytosis
Wheezing, Erythroderma ORPHA:79456
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Chronic or... ORPHA:83471
X-Linked Hypophosphatemia
Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Beaded ribs, Bowing of ... ORPHA:89936
Infantile Liver Failure Syndrome 3
Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver... OMIM:618641
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Thin ribs, Slender long bone, Decreased body weight, Brachydactyly OMIM:618265
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Severe Congenital Nemaline Myopathy
Facial palsy, Abnormal thorax morphology, Thin ribs, Facial diplegia, Respiratory failure, Pulmon... ORPHA:171430
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Weight los... ORPHA:1018
Lujo Hemorrhagic Fever
Respiratory distress, Maculopapular exanthema, Skin rash, Crackles, Nonproductive cough, Fulminan... ORPHA:319213
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Neu-Laxova Syndrome 1
Short neck, Calcaneovalgus deformity, Neonatal death, Pterygium, Finger syndactyly, Spina bifida,... OMIM:256520
Neurofibroma
Kyphoscoliosis, Spinal canal stenosis, Neoplasia of the pleura, Neoplasm of the trachea, Abnormal... ORPHA:252183
Phakomatosis Pigmentokeratotica
Cryptorchidism, Spina bifida, Scoliosis ORPHA:2874
Immunodeficiency 40
Respiratory tract infection, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral candidia... OMIM:616433
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Communicating hydrocephalus, Wide cranial sutures, Short femur, Metaphyseal... OMIM:618188
Myhre Syndrome
Brachydactyly, Cryptorchidism, Abnormal rib morphology, Platyspondyly, Hypogonadism, Abnormal epi... ORPHA:2588
Cystic Fibrosis
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent bronchop... OMIM:219700
Neurofibromatosis, Type I
Spina bifida, Pectus excavatum, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu v... OMIM:162200
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Unilateral cryptorchidism, Bilateral cryptorchidism, Atelectasis, Thin ribs... OMIM:300219
Good Syndrome
Recurrent respiratory infections, Sinusitis, Recurrent skin infections, Dyspnea, Bronchiectasis, ... ORPHA:169105
Xylt1-Cdg
Joint dislocation, Coxa valga, Flared metaphysis, Truncal obesity, Short long bone, Short femoral... ORPHA:370930
Timothy Syndrome
Pulmonary arterial hypertension, Pneumonia, Bronchitis OMIM:601005
Premature Aging Syndrome, Penttinen Type
Flexion contracture of finger, Brachydactyly, Hyperextensibility of the knee, Thin ribs, Tibial b... OMIM:601812
Congenital Myopathy 13
Kyphoscoliosis, Hypercapnia, Cryptorchidism, Hypoxemia, Restrictive ventilatory defect, Scoliosis OMIM:255995
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Streak ovary, Kyphoscoliosis, Cryptorchidism, Gray matter heterotopia, Chordee, Holop... OMIM:618820
Arthrogryposis And Ectodermal Dysplasia
Joint contracture of the hand, Kyphoscoliosis, Camptodactyly OMIM:601701
Wiedemann-Rautenstrauch Syndrome
Hypoplastic vertebral bodies, Long toe, Hypogonadotropic hypogonadism, Cryptorchidism, 2-3 toe sy... ORPHA:3455
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Eunuchoid habitus, Arachnodactyly, Pectus excavatum, Thin ribs, Thin metatarsal cortices, Slender... ORPHA:2463
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Failure to thrive, Pancreatitis, Aspiration pneumonia ORPHA:431361
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Respiratory insufficiency, Thin ribs, Gray matter heterotopi... OMIM:617397
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion contracture, P... OMIM:612394
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Optic neuropathy, Increased intervertebral space, Optic atrophy, Broad isc... OMIM:619727
Lymphatic Filariasis
Glomerulonephritis, Orchitis, Lymphadenitis, Abnormal lung morphology, Knee osteoarthritis, Epidi... ORPHA:2035
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
Nestor-Guillermo Progeria Syndrome
Wide cranial sutures, Limited elbow movement, Delayed closure of the anterior fontanelle, Dyspnea... OMIM:614008
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Overlapping toe, Pectus excavatum, Large placenta, Respiratory failure, Prominent stern... ORPHA:254528
Immunodeficiency 92
Osteomyelitis, Pneumonia, Cholangitis, Sclerosing cholangitis, Esophagitis OMIM:619652
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Sandal gap, Macrodactyly, Spinal dysraphism, Scoliosis OMIM:612918
Brucellosis
Bronchitis, Knee osteoarthritis, Infectious encephalitis, Epididymitis, Pneumonia, Arteritis, Ple... ORPHA:1304
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, Small for gestational age, Respiratory insufficiency, Thin ribs OMIM:615368
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia ORPHA:204
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Recurrent upper respiratory tract infections, Pneumonia, Otitis media OMIM:602450
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Pulmonary artery sling, Recurrent otitis media, Tracheal stenosis, Failure to thrive, Abnormality... ORPHA:261537
Cutis Laxa, Autosomal Recessive, Type Iic
Overlapping toe, Kyphoscoliosis, Bilateral cryptorchidism, Pneumothorax, Knee flexion contracture... OMIM:617402
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Neonatal respiratory distress, Anomalous rib inserti... OMIM:117650
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Recurrent sinopulmonary infections, Respiratory tract infection, Av... ORPHA:581
Marshall Syndrome
Radial bowing, Coxa valga, Hypoplastic ilia, Ulnar bowing, Knee osteoarthritis, Irregular femoral... OMIM:154780
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Recurrent ... OMIM:252940
Mowat-Wilson Syndrome
Pulmonary artery sling, Enterocolitis, Recurrent otitis media, Decreased body weight, Tracheal st... ORPHA:2152
Autosomal Dominant Centronuclear Myopathy
Large for gestational age, Respiratory insufficiency due to muscle weakness, Neonatal asphyxia, C... ORPHA:169189
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Tethered cord, Butterfly vertebrae, Spinal dysraphism OMIM:617660
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Asthma, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Sc... OMIM:619269
Chronic Graft Versus Host Disease
Fasciitis, Dyspnea, Wheezing, Pneumothorax, Urinary bladder inflammation, Bronchiectasis, Weight ... ORPHA:99921
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Postaxial hand polydactyly, Cryptorchidism, Pectus carinatum, Postaxial f... OMIM:225500
Charge Syndrome
Brachydactyly, Hypogonadotropic hypogonadism, Facial palsy, Aqueductal stenosis, Cryptorchidism, ... ORPHA:138
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Pulmonary artery sling, Recurrent otitis media, Tracheal stenosis, Failure to thrive, Abnormality... ORPHA:261552
Dextrocardia
Congenital hip dislocation, Hydrocephalus, Abnormal lung lobation, Abnormal rib morphology, Abnor... ORPHA:1666
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Kyphoscoliosis, Kyphosis, Cryptorchidism, Scoliosis, Synostosis of the proximal ph... OMIM:300967
Pyknoachondrogenesis
Hypoplastic ischia, Short iliac bones, Short thorax, Abnormal iliac wing morphology, Poorly ossif... ORPHA:3003
Cocaine Intoxication
Respiratory distress, Pulmonary edema, Glomerulonephritis, Diffuse alveolar hemorrhage, Wheezing,... ORPHA:90068
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Short neck, Perisylvian polymicrogyria, Flared metaphysis, Advanced ossification of carpal bones,... OMIM:610442
Autosomal Recessive Spastic Paraplegia Type 9B
Kyphoscoliosis ORPHA:447760
Omenn Syndrome
Failure to thrive, Pneumonia, Erythroderma OMIM:603554
Abetalipoproteinemia
Respiratory failure, Failure to thrive, Kyphoscoliosis ORPHA:14
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Short neck, Lateral clavicle hook, Wide anterior fontanel, Preaxial polyda... OMIM:617925
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of... ORPHA:373
Bloom Syndrome
Skin rash, Pneumonia, Bronchitis, Small for gestational age, Respiratory tract infection, Chronic... ORPHA:125
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Stickler Syndrome
Joint dislocation, Recurrent respiratory infections, Arachnodactyly, Protrusio acetabuli, Cachexi... ORPHA:828
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczema, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Inte... OMIM:615952
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Cryptorchidism, Respiratory insufficiency, Thin ribs ORPHA:456328
Cardiogenic Shock
Hypoxemia, Dyspnea, Increased pulmonary capillary wedge pressure, Crackles ORPHA:97292
Gracile Bone Dysplasia
Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Failure to thrive, Brachydactyly OMIM:602361
Fontaine Progeroid Syndrome
Neonatal death, Recurrent aspiration pneumonia, Syndactyly, Wide anterior fontanel, Cryptorchidis... OMIM:612289
Ear-Patella-Short Stature Syndrome
Respiratory distress, Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow disloca... ORPHA:2554
Fetal Akinesia Deformation Sequence 1
Hip contracture, Small for gestational age, Rocker bottom foot, Camptodactyly of finger, Short ne... OMIM:208150
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Fibrocys... OMIM:158310
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Abnormal tibia morphology, Hydrocepha... ORPHA:363700
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Sacral Defect With Anterior Meningocele
Back pain, Absence of the sacrum, Myeloschisis, Hemisacrum, Tethered cord, Myelomeningocele, Meni... OMIM:600145
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Tethered cord, Spina bifida, Tapered finger, Cyst of the ductus choledochus, Unilateral facial pa... OMIM:619480
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Umbilical hernia, Atlantoaxial instability, Kyphoscoliosis OMIM:614557
Sarcoidosis, Susceptibility To, 1
Dyspnea, Iridocyclitis, Bronchiectasis, Uveitis, Abnormal pulmonary interstitial morphology, Hypo... OMIM:181000
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Spinal canal stenosis, Scoliosis, Broad phalanges of the hand, Broad ribs, ... OMIM:277600
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Kyphosis, Atelectasis, Cryptorchidism, Abnormal rib morphology,... ORPHA:534
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Hallux valgus, Kyphoscoliosis, Bilateral cryptorchidism, Cryptorchidism, Synostosis involving the... ORPHA:466791
Microphthalmia, Syndromic 1
Prominent fingertip pads, Syndactyly, Lumbar hyperlordosis, Aganglionic megacolon, Down-sloping s... OMIM:309800
Cryptococcosis
Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Perit... ORPHA:1546
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Wide distal... OMIM:269150
Fryns Syndrome
Aganglionic megacolon, Rocker bottom foot, Proximal placement of thumb, Large for gestational age... OMIM:229850
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Kyphoscoliosis, Hyperlordosis, Neoplasm of the lung, Ganglioneuromatosis ORPHA:653
Autosomal Recessive Malignant Osteopetrosis
Recurrent respiratory infections, Bowing of the long bones, Apnea, Craniosynostosis, Pulmonary ar... ORPHA:667
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Tapered finger, Hyperlordosis, Hip dislocation, Obesity, Genu valgum, Hip dysplasia, Umbilical he... OMIM:301066
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Long clavicles, Arachnodactyly, Overlapping toe, Contracture of the distal ... ORPHA:83617
Chops Syndrome
Obesity, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomalacia, Chronic lung di... OMIM:616368
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Femur fracture, Optic nerve compression, Hydrocephalus, Recurrent pneumon... OMIM:612301
Weill-Marchesani Syndrome 2
Short metacarpal, Lumbar hyperlordosis, Short metatarsal, Spinal canal stenosis, Elbow flexion co... OMIM:608328
Shigellosis
Failure to thrive in infancy, Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, A... ORPHA:810
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglotti... OMIM:617088
Cystic Fibrosis
Recurrent respiratory infections, Sinusitis, Reduced forced expiratory volume in one second, Asth... ORPHA:586
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Decreased testicular size, Kyphoscoliosis, Short neck, Tapered finger, Cryptorchidism, Optic atro... OMIM:309580
Cerebrofacioarticular Syndrome
Tracheomalacia, Abnormal tracheal morphology ORPHA:314679
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis ORPHA:231154
Hennekam-Beemer Syndrome
Failure to thrive, Pneumonia, Respiratory insufficiency ORPHA:2135
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Failure to thrive in infancy, Chronic mucocutaneous candidiasis... ORPHA:79124
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Nephritis, Infectious encephali... ORPHA:73263
Combined Oxidative Phosphorylation Deficiency 25
Failure to thrive, Aspiration pneumonia OMIM:616430
Listeriosis
Respiratory distress, Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, ... ORPHA:533
Coccidioidomycosis
Respiratory distress, Pneumonia, Hydrocephalus, Abnormal long bone morphology, Increased circulat... ORPHA:228123
Pallister-Killian Syndrome
Congenital hip dislocation, Short neck, Renal cyst, Apneic episodes in infancy, Camptodactyly of ... OMIM:601803
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Acute respiratory distress syndrome, Wheezing, Respiratory insufficiency, Cough, Pulmonary arteri... OMIM:620005
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Pneumonia, Bronchitis, Recurrent skin infections, Gastritis, Bronchiect... OMIM:619381
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Pneumonia ORPHA:169090
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Thickened ribs, Camptodactyly of finger, Diaphyseal thickening, Spinal cord compress... ORPHA:217085
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Kyphosis, Scoliosis, Wormian bones, Femoral bowing present at birt... OMIM:166220
Williams-Beuren Syndrome
Hallux valgus, Failure to thrive in infancy, Down-sloping shoulders, Kyphoscoliosis, Pectus excav... OMIM:194050
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
Monosomy 9P
Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Cryptorchidism, Postaxi... ORPHA:261112
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Thickened ribs, Camptodactyly of finger, Diaphyseal thickening, Spinal cord compress... ORPHA:217093
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... ORPHA:99104
Alpha-Mannosidosis, Adult Form
Pneumonia ORPHA:309288
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Glomerulonephritis, Dyspnea, Acute tubulointerstitial... ORPHA:340
Insulin-Resistance Syndrome Type B
Skin rash, Pneumonia, Abnormality of body weight, Osteoarthritis, Increased body weight, Weight l... ORPHA:2298
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Alagille Syndrome 1
Hypoplasia of the ulna, Butterfly vertebral arch, Multiple small medullary renal cysts, Abnormal ... OMIM:118450
Pfeiffer Syndrome
Tracheal cartilaginous sleeve, Bronchomalacia OMIM:101600
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia ORPHA:52368
Charge Syndrome
Hypoplasia of the ulna, Hypogonadotropic hypogonadism, Facial palsy, Down-sloping shoulders, Abse... OMIM:214800
Fanconi Anemia, Complementation Group F
Failure to thrive, Pneumonia OMIM:603467
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Pneumonia ORPHA:90790
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Hepatitis, Atopic dermatitis, Weight loss, ... OMIM:615846
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent skin infections, Perianal ab... ORPHA:2968
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Cranioectodermal Dysplasia 2
Syndactyly, Craniosynostosis, Short neck, Pectus excavatum, Postaxial hand polydactyly, Recurrent... OMIM:613610
Wiedemann-Rautenstrauch Syndrome
Short neck, Narrow chest, Genu varum, Long toe, Cryptorchidism, Scoliosis, Widely patent fontanel... OMIM:264090
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Ring Chromosome 7 Syndrome
Prominent crus of helix, Small hand, Genu valgum, Hydrocele testis, Lumbar kyphoscoliosis, Short ... ORPHA:1449
Mirage Syndrome
Aspiration pneumonia, Decreased body weight OMIM:617053
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Wrist swelling, Kyphosis, Cryptorchidism, Hip dislocation, Genu valgum, ... OMIM:309000
Lumbar Syndrome
Cryptorchidism, Myelomeningocele, Spina bifida ORPHA:83628
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Pneumonia ORPHA:247691
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... ORPHA:95455
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Abnormal pelvis bone morphology, Aganglionic megacolon, Camptod... ORPHA:2273
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Respiratory tract infection, Dyspnea, Myocarditis, Pleural empyema, Septic arthritis, ... ORPHA:544482
Townes-Brocks Syndrome
Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... ORPHA:857
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Restrictive Dermopathy
Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Camptodactyly of finger, Thin clavi... ORPHA:1662
Osteogenesis Imperfecta, Type I
Biconcave flattened vertebrae, Femoral bowing, Hip dysplasia, Finger joint hypermobility, Wormian... OMIM:166200
Cholera
Tachypnea, Aspiration pneumonia, Hyperventilation ORPHA:173
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Shwachman-Diamond Syndrome
Sinusitis, Skin rash, Pneumonia, Eczema, Osteomyelitis, Failure to thrive ORPHA:811
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis ORPHA:454831
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Abnormal lung morphology, Urin... ORPHA:449395
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Infectious encephalitis ORPHA:68
Pmm2-Cdg
Respiratory distress, Hypogonadotropic hypogonadism, Kyphoscoliosis, Long fingers, Platyspondyly,... ORPHA:79318
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Abnormal hip bone morphology... ORPHA:2907
Degcags Syndrome
Bronchomalacia, Pneumonia, Small for gestational age, Asthma, Rhinitis, Tracheomalacia, Pulmonary... OMIM:619488
Aspartylglucosaminuria
Recurrent respiratory infections, Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Macroorchidi... OMIM:208400
Eisenmenger Syndrome
Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Aortopulmonary window, H... ORPHA:97214
Exstrophy-Epispadias Complex
Spina bifida, Cryptorchidism, Abnormal joint morphology, Hydrocephalus, Male sexual dysfunction, ... ORPHA:322
Apert Syndrome
Chronic otitis media, Acne, Anomalous tracheal cartilage OMIM:101200
Exercise-Induced Malignant Hyperthermia
Tachypnea, Crackles, Hypocapnia ORPHA:466650
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Truncal obesity, Aspiration pneumonia, Seborrheic dermatitis OMIM:301072
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Asthma, Obesity, Aspiration pneumonia, Tracheomalacia, Pulmonary arterial hypertension, Chronic l... ORPHA:444077
Cornelia De Lange Syndrome 1
Pneumonia, Otitis media OMIM:122470
Mandibuloacral Dysplasia Progeroid Syndrome
Sandal gap, Delayed cranial suture closure, Decreased fibular diameter, Pectus excavatum, Osteoly... OMIM:619127
Dyskeratosis Congenita, Autosomal Dominant 1
Dyspnea, Interstitial pneumonitis, Pulmonary fibrosis OMIM:127550
Osteopetrosis With Renal Tubular Acidosis
Pectus excavatum, Cranial nerve compression, Optic atrophy, Pulmonary arterial hypertension, Fail... ORPHA:2785
Glomuvenous Malformation
Abnormal tracheal morphology ORPHA:83454
Plague
Respiratory distress, Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Enterocolitis, End... ORPHA:707
Tay-Sachs Disease
Aspiration pneumonia ORPHA:845
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Pneumonia, Asthma, Obesity, Otitis media, Failure to thrive ORPHA:353281
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Short 4th metacarpal, Short ... ORPHA:2908
Alobar Holoprosencephaly
Central apnea, Aspiration pneumonia, Failure to thrive, Abnormal pattern of respiration, Chronic ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Aspiration pneumonia, Failure to thrive, Abnormal pattern of respiration, Chronic ... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Aspiration pneumonia, Failure to thrive, Abnormal pattern of respiration, Chronic ... ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Aspiration pneumonia, Failure to thrive, Abnormal pattern of respiration, Chronic ... ORPHA:220386
Neuroleptic Malignant Syndrome
Aspiration pneumonia, Pulmonary embolism ORPHA:94093
Liver Disease, Severe Congenital
Chronic gastritis, Eczema, Pneumonia, Peritonitis, Cough, Recurrent otitis media, Status asthmati... OMIM:619991
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia ORPHA:99027
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Pneumonia, Asthma, Obesity, Otitis media, Aspiration, Failure t... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Pneumonia, Asthma, Obesity, Otitis media, Aspiration, Failure t... ORPHA:353277
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia ORPHA:1465
Niemann-Pick Disease Type C
Abnormal lung morphology, Respiratory failure, Respiratory insufficiency, Aspiration pneumonia ORPHA:646
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Aspiration pneumonia, Breathing dysregulation ORPHA:438213
Yunis-Varon Syndrome
Small for gestational age, Failure to thrive in infancy, Aspiration pneumonia, Severe failure to ... OMIM:216340

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 Traf4

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 Traf4.

No publications found that use IMPC mice or data for Traf4.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Traf4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Traf4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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