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Gene: Sp7 MGI:2153568

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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:
Sp7 transcription factor 7
Synonyms:
osterix,  6430578P22Rik,  Osx

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 Sp7 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.

The table below shows human diseases associated to Sp7 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Recurrent fractures, Bowing of the legs, Micrognathia, O... OMIM:613849

The table below shows human diseases predicted to be associated to Sp7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han... OMIM:200600
Melnick-Needles Syndrome
Craniofacial hyperostosis, Bowing of the long bones, Micrognathia, Coxa valga, Short thorax, Abno... ORPHA:2484
Perching Syndrome
Respiratory distress, Cyanosis, Scoliosis, Camptodactyly, Joint contracture OMIM:617055
Stuve-Wiedemann Syndrome 2
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... OMIM:619751
Diaphanospondylodysostosis
Respiratory distress, Missing ribs, Short neck, Short thorax, Narrow pelvis bone, Enlarged thorax... ORPHA:66637
Restrictive Dermopathy 2
Microretrognathia, Respiratory distress, Cyanosis, Overtubulated long bones, Short clavicles OMIM:619793
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... OMIM:156530
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... ORPHA:1801
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor... ORPHA:2790
Desbuquois Dysplasia 2
Short neck, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx of finger, Genu v... OMIM:615777
Pelvis-Shoulder Dysplasia
Back pain, Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic il... OMIM:169550
Brachydactyly, Type E1
Short metacarpal, Short metatarsal, Straight clavicles, Short clavicles, Type E brachydactyly, Br... OMIM:113300
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Osteopenia, Telangiectasia of the skin, Recurrent shoulder dislocation, Down-sloping shoulders, P... OMIM:212112
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Lethal Congenital Contracture Syndrome 3
Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures, Respiratory insu... OMIM:611369
Cleidocranial Dysplasia 1
Respiratory distress, Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finge... OMIM:119600
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormal rib morphology, Pectus carinatum, Radioulnar synostosis, Scoliosis, C... ORPHA:3268
Cleidocranial Dysplasia 2
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delayed ossificat... OMIM:620099
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... OMIM:300106
Holt-Oram Syndrome
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Abnormal vertebral morphol... OMIM:142900
Cleidocranial Dysplasia
Sinusitis, Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the ... ORPHA:1452
Bent Bone Dysplasia Syndrome 1
Bent long bone, Micrognathia, Hypoplastic pubic bone, Bell-shaped thorax, Decreased calvarial oss... OMIM:614592
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis, Short finger, Tapered finger OMIM:302000
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... ORPHA:2635
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing... OMIM:151210
Odontochondrodysplasia 1
Respiratory distress, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short pha... OMIM:184260
Lethal Recessive Chondrodysplasia
Respiratory distress, Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Narr... ORPHA:1423
Neuralgic Amyotrophy
Scapular winging, Acrocyanosis, Respiratory insufficiency, Sprengel anomaly ORPHA:2901
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, H... ORPHA:40
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress, Limitation of joint mobility ORPHA:2680
Heart Defects-Limb Shortening Syndrome
Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnorm... ORPHA:1354
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Micrognathia, Dyspnea, Upper airway obstruction, Aplasia/Hypoplasia of fing... ORPHA:141152
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... OMIM:617405
Odontochondrodysplasia
Respiratory distress, Death in infancy, Bowing of the long bones, Micromelia, Coxa valga, Cone-sh... ORPHA:166272
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p... OMIM:609813
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femo... OMIM:600920
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Restrictive ventilatory defect, Verteb... OMIM:608681
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... OMIM:618022
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Micrognathia, Absent middle phalanx of 3rd fin... OMIM:308050
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Microretrognathia, Short 4th metacarpal, Short clavicles, Joint laxity OMIM:606220
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Hypoplastic ischia, Bowing of the legs, Micrognathia, Bell-shaped thorax, Decreased c... ORPHA:313855
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... ORPHA:168549
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Generalized joint la... ORPHA:536471
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Osteogenesis Imperfecta, Type X
Osteopenia, Respiratory distress, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint... OMIM:613848
Mandibuloacral Dysplasia With Type B Lipodystrophy
Death in early adulthood, Prominent superficial veins, Decreased adipose tissue around neck, Prog... OMIM:608612
Xylt1-Cdg
Joint laxity, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clavicles... ORPHA:370930
Melnick-Needles Syndrome
Short humerus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Mi... OMIM:309350
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Spondylometaphyseal Dysplasia, A4 Type
Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, S... ORPHA:168555
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Short metatarsal, Abn... ORPHA:93351
9Q31.1Q31.3 Microdeletion Syndrome
Cervical kyphosis, Short neck, Tapered finger, Small hand, Short clavicles ORPHA:401923
Parietal Foramina With Cleidocranial Dysplasia
Short clavicles OMIM:168550
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... ORPHA:474
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... ORPHA:337
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fractures, Kyphosis, Pectus... OMIM:259440
Occipital Horn Syndrome
Joint laxity, Short humerus, Pelvic bone exostoses, Broad clavicles, Pectus excavatum, Capitate-h... OMIM:304150
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Pectus excavatum, Respiratory insufficiency, Restr... OMIM:614399
Enlarged Parietal Foramina
Broad thumb, Short clavicles, Craniosynostosis ORPHA:60015
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Recurrent pneumonia,... OMIM:602271
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, P... OMIM:608728
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... OMIM:277300
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... OMIM:609945
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Van Maldergem Syndrome 1
Osteopenia, Joint laxity, Short fourth metatarsal, Sacral dimple, Micrognathia, Cutaneous finger ... OMIM:601390
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... OMIM:187760
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Arachnodactyly, Missing ribs, Dyspnea, Abnormal rib morphology, Hemivertebr... ORPHA:2759
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... OMIM:187601
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Diastrophic Dysplasia
Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Micrognathia, Symphalangis... ORPHA:628
Hurler Syndrome
Hypoplasia of the femoral head, Coxa valga, Joint stiffness, Hypoplasia of the odontoid process, ... OMIM:607014
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed ca... OMIM:183900
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs ORPHA:66630
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Van Maldergem Syndrome 2
Osteopenia, Joint laxity, Short fourth metatarsal, Ulnar deviation of the hand, Sacral dimple, Mi... OMIM:615546
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Rocker bottom foot, Ankle flexion contracture, Micrognathi... ORPHA:1143
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Enlargement of... OMIM:271650
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... ORPHA:1426
Craniofrontonasal Dysplasia
Abnormal clavicle morphology, Finger syndactyly, Broad hallux phalanx, Sandal gap, Down-sloping s... ORPHA:1520
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Long toe, Osteopenia, Bowing of the long bones, Joint laxity, Arachnodactyly, Phalangeal dislocat... OMIM:130070
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Respiratory insufficiency, Bell-shaped thorax, Shor... OMIM:615633
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... OMIM:600785
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... OMIM:102510
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Micrognathia, Short neck, Dyspnea, Respiratory failure, Mandibular aplasia ORPHA:1832
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... ORPHA:93267
Pseudoachondroplasia
Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Ost... OMIM:177170
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough OMIM:263000
Achondroplasia
Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora... OMIM:100800
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Prominent superficial veins, Femur fracture, Micrognathia, R... OMIM:619322
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Clubbing, R... OMIM:265120
Crane-Heise Syndrome
Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ... ORPHA:1512
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Rocker bottom foot, Micrognathia, Short neck, Kyphosis, Prenatal death, Camptod... OMIM:618393
Kniest Dysplasia
Respiratory distress, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu... OMIM:156550
Schneckenbecken Dysplasia
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat... OMIM:269250
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Osteopenia, Down-sloping shoulders, Micrognathia, Coxa valga... OMIM:248370
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w... OMIM:608940
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal thorax morphology, Abnormal respiratory system physiology... ORPHA:50251
Cdags Syndrome
Sagittal craniosynostosis, Kyphosis, Short ribs, Lambdoidal craniosynostosis, Short clavicles, Co... OMIM:603116
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Abnormal thorax morphology, Tachypnea, Nasal flaring, Hypoxemia, Respiratory... ORPHA:70587
Fibrochondrogenesis 2
Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti... OMIM:614524
Autosomal Dominant Spondylocostal Dysostosis
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... OMIM:602111
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion... ORPHA:1145
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Pycnodysostosis
Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Osteolyt... OMIM:265800
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Aplastic ... ORPHA:50945
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Kyphoscoliosis OMIM:619099
Mandibuloacral Dysplasia
Increased subcutaneous truncal adipose tissue, Micrognathia, Contractures of the large joints, Os... ORPHA:2457
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... ORPHA:2302
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... OMIM:184250
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Lateral... OMIM:617895
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Clubbing, Inspiratory crackles, Hypoxemia, Restrictive ventilatory ... OMIM:610910
Spondyloepimetaphyseal Dysplasia, Shohat Type
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory def... ORPHA:98913
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... OMIM:610921
Osteogenesis Imperfecta, Type Xvi
Microretrognathia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Rhizomeli... OMIM:616229
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Halberd-shaped pelv... OMIM:184252
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... OMIM:166210
Diaphanospondylodysostosis
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... OMIM:608022
Choanal Atresia
Respiratory distress, Cyanosis, Craniosynostosis, Upper airway obstruction, Polydactyly, Tracheom... ORPHA:137914
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro... ORPHA:2839
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Occipital Horn Syndrome
Osteopenia, Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short palm, Large iliac win... ORPHA:198
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Sifrim-Hitz-Weiss Syndrome
Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short femoral neck, Short clavicles OMIM:617159
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Enlargement of the ... OMIM:600081
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Bifid fe... ORPHA:2769
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... OMIM:223800
Holt-Oram Syndrome
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... ORPHA:392
Focal Dermal Hypoplasia
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Erythema,... ORPHA:2092
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Clinodactyly, Scoliosis, Micrognathia OMIM:300934
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... ORPHA:239
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress, Micrognathia, Congenital c... OMIM:615042
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglotti... OMIM:617088
Hypocalcemic Vitamin D-Resistant Rickets
Osteomalacia, Recurrent fractures, Abnormal thorax morphology, Bone cyst, Genu varum, Osteolysis,... ORPHA:93160
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Tapered finger, Short neck, Hip dislocation, Thin ribs, Irr... OMIM:618395
Grant Syndrome
Bowing of the long bones, Micrognathia, Abnormal cortical bone morphology, Abnormal rib morpholog... ORPHA:2097
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... OMIM:253000
Restrictive Dermopathy 1
Prominent superficial blood vessels, Limb joint contracture, Rocker bottom foot, Kyphoscoliosis, ... OMIM:275210
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture, Kyphoscoliosis OMIM:617977
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph... OMIM:122860
Sweeney-Cox Syndrome
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Micrognathia, Long fingers, Bilateral tal... OMIM:617746
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... OMIM:610913
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Micrognathia, Short neck, Limitation of joint mobility, Abnormal rib morphol... ORPHA:1486
Ivic Syndrome
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... ORPHA:2307
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... ORPHA:2345
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... OMIM:300863
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... OMIM:607778
Achondrogenesis Type 1B
Micromelia, Micrognathia, Abnormal enchondral ossification, Short neck, Short thorax, Abnormal ri... ORPHA:93298
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Missing ribs, Pectus exc... OMIM:613686
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short t... OMIM:617102
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Micrognathia, Asthma, Tachypnea, Pneumothorax, Pa... ORPHA:2257
Spondyloepimetaphyseal Dysplasia, Shohat Type
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... OMIM:602557
Congenital Diaphragmatic Hernia
Hypoxemia, Prominent sternum, Respiratory distress ORPHA:2140
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Short ... OMIM:187600
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra... OMIM:224300
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Hypoplastic pubic b... ORPHA:93346
Greenberg Dysplasia
Micromelia, Beaded ribs, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mine... OMIM:215140
Smith-Mccort Dysplasia 1
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre... OMIM:607326
Femoral-Facial Syndrome
Short femur, Micrognathia, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Coxa ... ORPHA:1988
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,... OMIM:602196
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Severe gener... OMIM:259420
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot,... OMIM:271225
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Enlargement of the ... OMIM:241530
Gaucher Disease Type 2
Respiratory distress, Flexion contracture, Abnormal pattern of respiration, Cough ORPHA:77260
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Hy... ORPHA:264675
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v... OMIM:228520
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Hemivertebrae, Short r... OMIM:173800
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib morphology, R... ORPHA:2021
Hypophosphatasia
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Emphysema, Abnormal rib morpholo... ORPHA:436
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Tachypnea, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Neonatal resp... ORPHA:79345
Radio-Renal Syndrome
Respiratory distress, Micromelia, Micrognathia, Short neck, Dyspnea, Hypoplasia of the radius, Ab... ORPHA:3015
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... OMIM:250420
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy... OMIM:144750
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Micrognathia, Pectus excavatum, Short neck, Hyperlordosis, Kyphosis... ORPHA:2522
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, Ovoid vertebral bodies... OMIM:260400
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Micrognathia OMIM:300580
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... OMIM:615220
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Achondrogenesis Type 1A
Multiple rib fractures, Recurrent fractures, Micromelia, Micrognathia, Abnormal enchondral ossifi... ORPHA:93299
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Laryngeal Abductor Paralysis
Stridor, Cyanosis, Talipes equinovarus OMIM:150260
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... OMIM:617952
Mucopolysaccharidosis Type 4
Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Short thorax, Abnormal... ORPHA:582
Cooper-Jabs Syndrome
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Resp... ORPHA:1488
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... ORPHA:1303
Bardet-Biedl Syndrome 16
Respiratory distress, Polydactyly OMIM:615993
X-Linked Hypophosphatemia
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... ORPHA:89936
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... ORPHA:2311
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Abnorm... ORPHA:2636
Congenital Myasthenic Syndrome
Microretrognathia, Joint laxity, Neuropathic spinal arthropathy, Congenital hip dislocation, Cyan... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Microretrognathia, Joint laxity, Neuropathic spinal arthropathy, Congenital hip dislocation, Cyan... ORPHA:98914
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Spinal c... OMIM:307800
Achondrogenesis, Type Ii
Barrel-shaped chest, Microretrognathia, Absent vertebral body mineralization, Broad long bones, S... OMIM:200610
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening... ORPHA:536467
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Ankle flexion contracture, Micrognathia, Craniosynostosis, Short neck, Kn... ORPHA:284417
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Respiratory distress, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebra... OMIM:612852
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Osteopenia, Short metacarpal, Radial bowing, Joint laxity, Recurrent fractur... OMIM:610915
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Micrognathia, Osteoarthritis, Reduced bone mineral density, ... ORPHA:740
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa valga, Osteo... OMIM:619131
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Lumbar hyperlordosis, Rhizomelia, Kyphosis, Tibial bowing, F... OMIM:616482
Moebius Syndrome
Respiratory distress, Syndactyly, Brachydactyly, Micrognathia, Short neck, Split hand, Hand clenc... OMIM:157900
Succinic Acidemia
Respiratory distress OMIM:600335
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Becker Nevus Syndrome
Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, ... ORPHA:64755
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... OMIM:264700
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Ulnar-Mammary Syndrome
Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ... OMIM:181450
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scolio... ORPHA:2180
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
3M Syndrome
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... ORPHA:2616
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea, Micrognathia, Mandibular condyle hypoplasia, Short mandibular rami, ... OMIM:614669
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bo... ORPHA:73230
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Increased bone mineral density, Prematurely aged appearance, Aplastic clavicle... ORPHA:2658
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Abnormality of subcutaneous fat tissue, Osteomalacia, Coxa valga, Micrognathia, Avasc... ORPHA:1901
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Clubbing, Hypoxemia, Restrictive ventilatory defect, Cough, Decrease... ORPHA:747
Meier-Gorlin Syndrome 1
Respiratory distress, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Flexion contractur... OMIM:224690
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing,... OMIM:620076
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... OMIM:253010
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ... OMIM:618019
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Dyspnea, Scoliosis, Cough ORPHA:86812
Mosaic Trisomy 14
Camptodactyly of finger, Short neck, Micrognathia, Abnormal rib morphology, Narrow chest ORPHA:1703
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Arthrogryposis-like h... OMIM:620011
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Thin ribs, Neonatal death, Joint hypermobility OMIM:300219
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Micrognathia, Metatarsus valgus, Aplasia/Hypoplasia of toe,... ORPHA:3082
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... ORPHA:2319
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal... OMIM:300232
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Vacterl Association With Hydrocephalus
Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Stillbirth, Abnor... OMIM:276950
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Tetrasomy 5P
Respiratory distress, Cyanosis, Overlapping toe, Short hallux, Micrognathia, Pectus excavatum, Lo... ORPHA:3309
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance OMIM:619466
Breath-Holding Spells
Cyanosis OMIM:607578
Ear-Patella-Short Stature Syndrome
Respiratory distress, Camptodactyly of finger, Aplastic clavicle, Micrognathia, Craniosynostosis,... ORPHA:2554
Floating-Harbor Syndrome
11 pairs of ribs, Joint laxity, Brachydactyly, Ivory epiphyses of the distal phalanges of the han... OMIM:136140
Campomelic Dysplasia
Respiratory distress, Thoracic scoliosis, Apnea, Anterior tibial bowing, Cervical kyphosis, Micro... OMIM:114290
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Lethal Congenital Contracture Syndrome 1
Micrognathia, Abnormal thorax morphology, Neonatal death, Arthrogryposis multiplex congenita, Wid... OMIM:253310
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex, Short tubular bones of the hand, Mi... ORPHA:85184
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Micrognathia, Beaded ribs, Dec... OMIM:616897
Chitayat Syndrome
Hallux valgus, Respiratory distress, Pectus excavatum, Tracheomalacia, Brachydactyly OMIM:617180
Chilton-Okur-Chung Neurodevelopmental Syndrome
Short fourth metatarsal, Short fifth metatarsal, Epistaxis, Tapered finger, Pectus excavatum, Mic... OMIM:619841
White Forelock With Malformations
Finger syndactyly, Abnormal rib morphology, Joint hyperflexibility, Clinodactyly of the 5th finge... ORPHA:2475
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... OMIM:277440
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria ORPHA:100057
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Micromelia, Mi... OMIM:211350
Acute Interstitial Pneumonia
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... ORPHA:79126
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Postaxial hand polydactyly, Abnormal rib morphology, Pulmonary arterial hyp... ORPHA:2519
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs OMIM:146350
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia,... ORPHA:163966
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin... OMIM:276820
3P25.3 Microdeletion Syndrome
Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Microg... ORPHA:435638
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormal ri... ORPHA:3035
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa... ORPHA:249
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorptio... ORPHA:289157
Campomelia, Cumming Type
Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Prematurely aged appea... ORPHA:1318
Hyperparathyroidism, Transient Neonatal
Osteopenia, Respiratory distress, Short femur, Metaphyseal spurs, Recurrent fractures, Undulate r... OMIM:618188
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... OMIM:300554
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Cole-Carpenter Syndrome
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Micrognathia, Kyphosis, Abnor... ORPHA:2050
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Ankle flexion contracture, Micrognathia, Small hand, Upper limb undergrowth... OMIM:608799
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Reduced bone mineral density, Abnormal bo... ORPHA:93315
Atelosteogenesis, Type I
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Narrow chest, Neonatal death, Vertebra... OMIM:108720
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Clubbing, Bronchiectasis, Wheezing, ... ORPHA:79127
Yunis-Varon Syndrome
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatar... OMIM:216340
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulde... OMIM:620369
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial h... ORPHA:1120
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... ORPHA:3003
Focal Dermal Hypoplasia
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifid... OMIM:305600
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ... ORPHA:93324
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnormal rib... ORPHA:1163
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... ORPHA:36238
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... OMIM:271640
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pect... ORPHA:175
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, Genu valgum, Hip dyspl... OMIM:619698
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Micrognathia, Bowing of the legs, Short neck, Pectus carinatum, Abnormal calcificatio... OMIM:271665
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Mi... ORPHA:958
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Tapered finger, Flexion contracture, Hyperextensibility at wrists, Hip dysp... ORPHA:544503
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol... ORPHA:2876
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Joint stiffness ORPHA:2400
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva... ORPHA:2772
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... ORPHA:93317
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook, Jaundice, Early ossification of ... OMIM:208500
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Delayed epiphyseal ossification, Abnormal epiphysis morphology, Prolonged n... ORPHA:226313
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... OMIM:250220
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Momo Syndrome
Cutis marmorata, Short neck, Femoral bowing, Large hands, Short sternum, Abnormal bone ossificati... ORPHA:2563
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... ORPHA:70588
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal clavicle morphology, Tarsal synostosis, Aplastic clavicle, Micrognathia, Kyphosis, Short... ORPHA:85199
Waardenburg Syndrome Type 3
Camptodactyly of finger, Joint stiffness, Abnormal finger morphology, Cutaneous finger syndactyly... ORPHA:896
Pulmonary Capillary Hemangiomatosis
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Clubbing of fingers, Elevated pulmonary artery pressure... ORPHA:199241
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Stüve-Wiedemann Syndrome
Osteopenia, Respiratory distress, Apnea, Micromelia, Metaphyseal widening, Flexion contracture, K... ORPHA:3206
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Cyanosis, Postaxial polydactyly, Microgn... OMIM:619879
Osteoglophonic Dysplasia
Osteopenia, Respiratory distress, Short neck, Short metatarsal, Short palm, Short phalanx of fing... OMIM:166250
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... ORPHA:2347
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Short neck ORPHA:2234
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo... ORPHA:157215
Acromesomelic Dysplasia 4
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... OMIM:619636
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology ORPHA:1506
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Respiratory insufficiency, Abnormal form of the vertebral bodies ORPHA:93941
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Respiratory distress, Micromelia, Short neck, Adducted thumb ORPHA:50810
Myopathy And Diabetes Mellitus
Respiratory distress, Achilles tendon contracture ORPHA:2596
Kenny-Caffey Syndrome, Type 1
Long clavicles, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bone, Short palm,... OMIM:244460
Floating-Harbor Syndrome
11 pairs of ribs, Short metacarpal, Brachydactyly, Kyphoscoliosis, Short neck, Avascular necrosis... ORPHA:2044
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Kyphosis, Resp... OMIM:211530
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... ORPHA:254864
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Reduced bone minera... ORPHA:2911
Craniofrontonasal Syndrome
Joint laxity, Toe syndactyly, Broad hallux, Down-sloping shoulders, Short neck, Pectus excavatum,... OMIM:304110
Episodic Ataxia Type 1
Respiratory distress, Kyphoscoliosis, Scoliosis, Hand clenching ORPHA:37612
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Infantile Systemic Hyalinosis
Osteopenia, Telangiectasia of the skin, Camptodactyly of finger, Micromelia, Osteomalacia, Recurr... ORPHA:2176
Mandibuloacral Dysplasia With Type B Lipodystrophy
Aplasia/Hypoplasia of the clavicles, Prematurely aged appearance, Abnormal fingertip morphology, ... ORPHA:90154
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Micrognathia, Craniosynostosis, Split hand, Abnormal rib morpholog... ORPHA:2145
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Clubbing, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmon... ORPHA:2038
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
Craniofaciofrontodigital Syndrome
Osteopenia, Joint laxity, Prominent superficial veins, Respiratory distress, Dyspnea, Osteoporosi... ORPHA:363705
Malaria
Respiratory distress ORPHA:673
Frontometaphyseal Dysplasia 1
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... OMIM:305620
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Short thumb, Hypoplasia of... ORPHA:3258
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
Criss-Cross Heart
Abnormal thorax morphology, Cyanosis, Respiratory insufficiency ORPHA:1461
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... ORPHA:95430
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... OMIM:610978
Juvenile Polyposis Of Infancy
Clubbing of fingers, Midclavicular hypoplasia, Broad thumb, Subcutaneous lipoma, Broad phalanx of... ORPHA:79076
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Micromelia, Postaxial polydactyly, Short neck, Preaxial polydactyly, Short rib... OMIM:616546
Stuve-Wiedemann Syndrome 1
Apnea, Micrognathia, Short neck, Femoral bowing, Tibial bowing, Knee flexion contracture, Short t... OMIM:601559
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Epistaxis, Wheezing, Jaundice, Rickets OMIM:211600
Opsismodysplasia
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... OMIM:258480
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... ORPHA:85167
Mandibuloacral Dysplasia With Type A Lipodystrophy
Aplasia/Hypoplasia of the clavicles, Prematurely aged appearance, Progeroid facial appearance, Fl... ORPHA:90153
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis ORPHA:444013
Slc35A1-Cdg
Hypoxemia, Pneumonia, Respiratory distress, Subcutaneous hemorrhage ORPHA:238459
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, G... ORPHA:583
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radiu... OMIM:607143
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... OMIM:252600
Bile Acid Conjugation Defect 1
Jaundice, Rickets OMIM:619232
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Thoracic scoliosis, Respiratory failure, Chylothorax, Dea... OMIM:620278
Pulmonary Alveolar Microlithiasis
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:60025
Cole-Carpenter Syndrome 2
Osteopenia, Microretrognathia, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Platys... OMIM:616294
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Prominent superficial veins, Progeroid facial appearance, Micrognathia, Limite... OMIM:614008
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Syndactyly, Neonatal respiratory distress, Proximal placement of thumb, Mic... OMIM:217980
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl... OMIM:613091
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Scapular winging, Neonatal respiratory distress, Limited w... ORPHA:98915
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... ORPHA:1517
Dent Disease 1
Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... OMIM:300009
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:613561
Schwartz-Jampel Syndrome
Apnea, Micromelia, Micrognathia, Short neck, Coxa vara, Pectus carinatum, Wrist flexion contractu... ORPHA:800
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Overlapping toe, Flexion contracture, Pectus carinatum, Scoliosis, Overlapp... OMIM:619383
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Hand clenching ORPHA:240103
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Micrognathia, Thin ribs, Slender long bone, Decreased calvarial ossification, A... OMIM:618265
Tarp Syndrome
Finger syndactyly, Cyanosis, Apnea, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pect... ORPHA:2886
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Hyperlordosis, Limitation of joint mobility, Abnormal rib morphology, ... ORPHA:3068
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Thin ribs, Pectu... OMIM:612921
Chime Syndrome
Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Erythema, Hip dislocation, Cl... ORPHA:3474
Congenital Heart Block
Pleural effusion, Cyanosis, Crackles ORPHA:60041
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Lymphangiectasia, Intestinal
Stillbirth, Prominent floating ribs OMIM:152800
Poems Syndrome
Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Respiratory insufficiency ... ORPHA:2905
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Rocker bottom foot, Respiratory distress, Adducted thumb ORPHA:89844
Tricuspid Atresia
Cyanosis ORPHA:1209
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis, Clubbing ORPHA:439
Gm1-Gangliosidosis, Type I
Death in infancy, Thickened ribs, Joint stiffness, Short neck, Kyphosis, Angiokeratoma corporis d... OMIM:230500
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology, Micrognathia OMIM:601076
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Short neck, Pectus excavatum, Metaphyseal widening, Flexion contracture, Cl... OMIM:617303
Craniometadiaphyseal Dysplasia
Osteopenia, Broad long bones, Coxa valga, Flared metaphysis, Genu valgum, Absent paranasal sinuse... OMIM:269300
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction, Micrognathia OMIM:612776
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia ORPHA:596
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Postaxial foot polydactyly,... OMIM:225500
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Lethal Congenital Contracture Syndrome 5
Death in infancy, Flexion contracture, Respiratory insufficiency, Thin ribs, Congenital contracture OMIM:615368
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... OMIM:186500
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Tapered finger, Long fingers, Joint contracture of the 5th finger, Clinodactyly of the 5th finger... OMIM:614407
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture OMIM:616733
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough ORPHA:142
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Respiratory distress, Micrognathia, Contractures of the large joints, Scoliosis ORPHA:329178
Renpenning Syndrome
Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodacty... ORPHA:3242
Buerger Disease
Acrocyanosis ORPHA:36258
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Rickets of the... ORPHA:289176
Cartilage-Hair Hypoplasia
Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia ... OMIM:250250
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... ORPHA:2167
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Thin ribs, Incr... OMIM:312150
Pfeiffer Syndrome Type 2
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... ORPHA:93259
Osteogenesis Imperfecta, Type Vii
Osteopenia, Multiple rib fractures, Crumpled long bones, Death in infancy, Rhizomelia, Protrusio ... OMIM:610682
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Kyphosi... OMIM:615512
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Rhizomelia, Kyphoscoliosis, Micrognathia, Short neck, Squared ili... OMIM:611209
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Cat-Eye Syndrome
Hip dysplasia, Abnormal rib morphology ORPHA:195
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria OMIM:252900
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Missing ribs, Absent thumb, Absent radius, Humeroradial synostosis, Cra... OMIM:251230
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... OMIM:253200
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contr... ORPHA:666
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Micrognathia ORPHA:261304
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Ulbright-Hodes Syndrome
Respiratory distress, Short humerus, Short metacarpal, Micrognathia, Short neck, Humeroradial syn... ORPHA:3404
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Micrognathia, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Dislocat... OMIM:182212
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
Kagami-Ogata Syndrome
Long clavicles, Kyphoscoliosis, Micrognathia, Coxa valga, Long fingers, Flexion contracture, Thin... OMIM:608149
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... OMIM:600002
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Thoracic hypoplasia, Micrognathia, Neonatal death, Arthrogryposis mu... OMIM:608013
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia OMIM:606763
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Knee flexion contract... OMIM:265000
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Arachnodactyly, Prematurely aged appearance, Ro... ORPHA:3342
Nipah Virus Disease
Respiratory distress, Cough ORPHA:99825
Dravet Syndrome
Limited knee extension, Cyanotic episode, Tibial torsion ORPHA:33069
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Thin ribs, Incr... OMIM:253290
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Micrognathia, 2-3 toe syndactyly, Clubbing of toes, Clubbing of fingers ORPHA:3304
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... ORPHA:83
Congenital Fibrinogen Deficiency
Clubbing of fingers, Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of verteb... OMIM:252930
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... ORPHA:90051
Axial Mesodermal Dysplasia Spectrum
Micrognathia, Short neck, Missing ribs, Abnormal rib morphology, Abnormal form of the vertebral b... ORPHA:1834
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Tapered finger, Pectus excavatum, Met... ORPHA:2215
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Kyphoscoliosis, Micrognathia, Missi... OMIM:200980
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... ORPHA:2970
Esophageal Atresia
Respiratory distress, Cyanosis, Laryngotracheomalacia, Episodic respiratory distress, Chronic pul... ORPHA:1199
Hurler Syndrome
Abnormal clavicle morphology, Death in infancy, Camptodactyly of finger, Short neck, Limitation o... ORPHA:93473
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones,... OMIM:616300
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Micrognathia, Recurrent pneumonia, Polydactyly, Asp... ORPHA:314655
Basal Cell Nevus Syndrome 1
Short distal phalanx of the thumb, Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Irre... OMIM:109400
Microgastria-Limb Reduction Defect Syndrome
Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, Ab... ORPHA:2538
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae, Dense calvaria, Joint stiffness OMIM:252920
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea OMIM:261680
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Mosaic Trisomy 8
Camptodactyly of finger, Micrognathia, Short neck, Patellar aplasia, Abnormal rib morphology, Lim... ORPHA:96061
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Death in childhood, Death in adolescence, Osteoporosis, Rickets OMIM:560000
Otopalatodigital Syndrome Type 2
Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short hallux, Microg... ORPHA:90652
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Bowing of the legs ORPHA:89937
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia, Short finger, Tapered finger ORPHA:1867
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration OMIM:604377
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Clubbing of toes, Airway ob... ORPHA:99106
Pfeiffer Syndrome Type 3
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... ORPHA:93260
Alagille Syndrome
Hypoplasia of the ulna, Telangiectasia of the skin, Micrognathia, Abnormal rib morphology, Abnorm... ORPHA:52
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... ORPHA:1329
Agnathia-Otocephaly Complex
Mandibular aplasia, Respiratory distress, Tracheomalacia, Micrognathia OMIM:202650
Gracile Bone Dysplasia
Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, ... OMIM:602361
Severe Congenital Nemaline Myopathy
Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Respirat... ORPHA:171430
Microphthalmia, Syndromic 1
Syndactyly, Lumbar hyperlordosis, Down-sloping shoulders, Kyphoscoliosis, Pectus excavatum, Narro... OMIM:309800
Chiari Malformation Type Ii
Cyanosis, Inspiratory stridor OMIM:207950
Tularemia
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Arachnodactyly, Joint hypermobility, Pectus excavatum, Thin metatarsal cortices, Thin... ORPHA:2463
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Bowing of the legs, Short neck, Short toe, Short thorax, Respiratory insuff... OMIM:269860
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Flexion contracture OMIM:618201
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency, Knee flexion contracture OMIM:617239
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Micrognathia, Lateral clavicle hook, Short neck, Preaxial polydactyly, Hyp... OMIM:617925
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Respiratory insufficiency, Joint hypermobility, Thin ribs ORPHA:456328
Sclerosteosis 1
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Facial palsy secondary to... OMIM:269500
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Poor w... OMIM:225400
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overlapping fingers, Stiff neck, Micrognathia, Short neck, Femoral bowing, Sh... OMIM:617022
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets, Rachitic rosary OMIM:612089
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Arachnodactyly, Micrognathia, Dyspnea, Respiratory failure ORPHA:2707
Fanconi Renotubular Syndrome 3
Rickets, Bowing of the legs OMIM:615605
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Micrognathia, Short neck, Flexion contracture, Hemivertebrae, Tibial bowing, Narrow chest, Hypopl... ORPHA:96334
Farber Disease
Respiratory distress, Short toe, Flexion contracture, Osteoporosis, Respiratory insufficiency, Ar... ORPHA:333
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Joint laxity, Respiratory distress, Sacral dimple, Postaxial polydactyly, Tapered finger, Small h... OMIM:300968
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... OMIM:268310
Trisomy 13
Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho... ORPHA:3378
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Barrel-shaped chest, Respiratory distress, Lumbar hyperlordosis, Joint stiffness, Short neck, Fle... ORPHA:505248
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Tachypnea ORPHA:860
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Hand clenching, Cyanosis, Apnea OMIM:619580
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Generalized abnormality of skin, Flexion contracture, Respiratory insuffici... ORPHA:367
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Micrognathia, Coxa valg... ORPHA:263508
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Micrognathia, Missing ribs, Abnormal rib morphology, Aplasia/Hypop... ORPHA:3301
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Limitation of joint mobility, Urticaria, Arthritis, Acrocyanosis, Purpura ORPHA:343
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Cerebrofaciothoracic Dysplasia
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... ORPHA:1394
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... ORPHA:555874
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Joint laxity, Overlapping toe, Pectus excavatum, Flexion contracture, Respiratory failu... ORPHA:254528
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Micrognathia, Tachypnea, Bell-shaped thorax, Pulmonary arterial hypertension, Horizontal ribs OMIM:614857
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Mgat2-Cdg
Osteopenia, Respiratory distress, Pectus excavatum, Kyphosis, Scoliosis, Brachydactyly ORPHA:79329
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Apnea, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, ... ORPHA:667
Premature Aging Syndrome, Penttinen Type
Prominent superficial veins, Brachydactyly, Prematurely aged appearance, Recurrent fractures, Mic... OMIM:601812
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Short neck, Small hand, Abnormal rib morphology, Short foot, Spina bifida occulta, Th... ORPHA:488434
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Primary Dystonia, Dyt4 Type
Respiratory distress, Kyphoscoliosis ORPHA:98805
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... OMIM:263520
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Rickets OMIM:613388
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress ORPHA:79312
Tetanus
Respiratory distress, Stiff neck, Tachypnea ORPHA:3299
Stt3B-Cdg
Respiratory distress ORPHA:370924
Osteopathia Striata With Cranial Sclerosis
Apnea, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, Clinodactyly of the 5th fi... OMIM:300373
Eosinophilic Fasciitis
Arthritis, Acrocyanosis ORPHA:3165
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... OMIM:117650
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ab... ORPHA:3472
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Jaundice, Neonatal death OMIM:231680
Hypercholanemia, Familial 1
Rickets OMIM:607748
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... OMIM:134780
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Micrognathia, Joint stiffness, Split hand, Abnormal rib morpho... ORPHA:1300
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Lenz-Majewski Hyperostotic Dwarfism
Joint laxity, Prominent scalp veins, Hyperextensibility of the finger joints, Syndactyly, Cutis m... OMIM:151050
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Femoral bowing, Narrow chest, Elbow ankylosis, Abnormal vertebral morphology... ORPHA:95699
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Urticaria, Arthritis, Cough, Acroc... ORPHA:183
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Osteoporosis, Rickets, L... ORPHA:2671
Mogs-Cdg
Respiratory distress, Hypoventilation, Thoracic scoliosis, Apnea, Overlapping fingers ORPHA:79330
Autosomal Dominant Centronuclear Myopathy
Respiratory insufficiency due to muscle weakness, Neonatal asphyxia, Miscarriage, Thin ribs ORPHA:169189
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1647
Fucosidosis
Kyphosis, Acrocyanosis, Vascular skin abnormality, Anterior beaking of lumbar vertebrae ORPHA:349
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Multiple joint contractures, Short neck, Metaphyseal widening, Irregular ve... ORPHA:99646
Kallmann Syndrome-Heart Disease Syndrome
Osteopenia, Cyanosis, Osteoporosis ORPHA:2326
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowin... ORPHA:1652
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... ORPHA:99104
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Hyperextensibility of the finger joints, Vertebral fusion, Sacral di... OMIM:213980
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... OMIM:220110
Double Outlet Right Ventricle
Cyanosis, Tachypnea ORPHA:3426
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Neonatal respiratory distress, Camptodactyly of finger, Micrognathia, Pectus e... ORPHA:2990
Carnitine Deficiency, Systemic Primary
Respiratory distress OMIM:212140
Coccidioidomycosis
Respiratory distress, Osteomyelitis, Pneumonia, Cough, Osteolysis, Abnormal long bone morphology,... ORPHA:228123
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Proximal placement of thumb, Micrognathia, Preaxial hand polydactyly, Slend... OMIM:610536
Schinzel-Giedion Syndrome
Respiratory distress, Abnormal clavicle morphology, Sacrococcygeal teratoma, Overlapping fingers,... ORPHA:798
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Short femur, Pneumothorax, Talipes equinovarus, Short tibia OMIM:620306
Isolated Atp Synthase Deficiency
Respiratory distress ORPHA:254913
Weill-Marchesani Syndrome 1
Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Scoliosis, Broad ... OMIM:277600
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Respiratory insufficiency, Thin ribs, Pleural effusion, Pete... OMIM:617397
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Rhizomelia, Micrognathia, Flexion contracture, Recurrent pneumonia OMIM:616271
Kagami-Ogata Syndrome
Respiratory failure requiring assisted ventilation, Kyphoscoliosis, Coxa valga, Micrognathia, Sho... ORPHA:254519
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Micrognathia OMIM:606164
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... OMIM:187300
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring OMIM:268320
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Genu valgum ORPHA:488627
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Pectus excavatum, Tachypnea, Rickets, Respiratory insufficiency, Reduce... OMIM:613658
Trisomy 1Q
Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydac... ORPHA:261344
Pontine Tegmental Cap Dysplasia
Aspiration, Rib fusion, Hemivertebrae, Scoliosis OMIM:614688
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pneumonia, Episodic tachypnea, Jaundice, Tachypnea ORPHA:26793
Ethylene Glycol Poisoning
Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration ORPHA:31826
Pitt-Hopkins Syndrome
Tapered finger, Short neck, Broad fingertip, Short metatarsal, Small hand, Finger clinodactyly, S... ORPHA:2896
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Multiple rib fractures, Death in infancy, Femur fracture, Re... OMIM:612301
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Micrognathia, Rib fusion, Hand polydactyly, Scoliosis, Abnormal vertebral morph... ORPHA:261197
Diamond-Blackfan Anemia 10
Respiratory distress, Supernumerary ribs, Micrognathia OMIM:613309
Mccune-Albright Syndrome
Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Abnormal femur morphology, Pol... ORPHA:562
Vacterl/Vater Association
Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial hand polydactyly, Abnormal s... ORPHA:887
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Rickets, Prolonged neonatal jaundice ORPHA:79303
Cerebrocostomandibular Syndrome
Death in infancy, Neonatal respiratory distress, Tracheomalacia, Micrognathia, Kyphosis, Posterio... ORPHA:1393
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Inspiratory stridor ORPHA:100050
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Knee flexion contracture, Talipes equinovarus, Aspiration, Wrist flexion co... OMIM:618733
Hallermann-Streiff Syndrome
Micrognathia, Pectus excavatum, Hyperlordosis, Metaphyseal widening, Recurrent pneumonia, Telangi... OMIM:234100
Bile Acid Synthesis Defect, Congenital, 1
Jaundice, Rickets OMIM:607765
Autosomal Recessive Robinow Syndrome
Micrognathia, Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5t... ORPHA:1507
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Respiratory distress, Cutis marmorata, Swelling of proximal interphalangeal joints... ORPHA:3260
Chromosome 6Q24-Q25 Deletion Syndrome
Prominent fingertip pads, Small hand, Respiratory distress, Sandal gap OMIM:612863
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Bacterial Toxic-Shock Syndrome
Respiratory distress, Osteomyelitis, Sinusitis, Pneumonia, Tachypnea, Septic arthritis, Arthritis... ORPHA:36234
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Long clavicles, Overlapping toe, Arachnodactyly, Micrognathia, Contracture ... ORPHA:83617
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Hyperlordosis, Respiratory insufficiency due to muscle weakness,... ORPHA:365
Myotonic Dystrophy 1
Respiratory distress OMIM:160900
Kbg Syndrome
Syndactyly, Vertebral fusion, Short neck, Rib fusion, Vertebral arch anomaly, Cutaneous syndactyl... OMIM:148050
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Overlapping toe, Micrognathia, Short neck, Small hand, Short foot, Bilatera... ORPHA:177907
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension OMIM:619272
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor OMIM:615595
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Mandibular aplasia, Respiratory distress ORPHA:990
Myasthenia Gravis
Dyspnea, Acrocyanosis, Rheumatoid arthritis ORPHA:589
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni... ORPHA:980
Restrictive Dermopathy
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... ORPHA:1662
Alpha-Mannosidosis, Infantile Form
Osteopenia, Joint laxity, Thickened ribs, Pneumonia, Craniosynostosis, Joint stiffness, Pectus ex... ORPHA:309282
Myhre Syndrome
Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Abnormal rib morphology, Platyspondyly... ORPHA:2588
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Bifid sternum, Short metacarpal, Cutis marmorata, Tapere... OMIM:303600
Aicardi-Goutieres Syndrome 1
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets OMIM:611590
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Joint stiffness, Short... OMIM:252940
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Overlapping toe OMIM:617478
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Absence of the sacrum, Congenital hip dislocation, Cyanosis, Block vertebra... OMIM:306955
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Overlapping toe, Craniosynostosis, Palmoplantar cutis laxa, Limited elbow e... OMIM:123790
8Q24.3 Microdeletion Syndrome
Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Micromelia, Short neck, Fin... ORPHA:508488
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:274150
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure OMIM:252010
Auriculocondylar Syndrome
Respiratory distress, Mandibular condyle aplasia, Mandibular condyle hypoplasia, Micrognathia ORPHA:137888
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Flexion contracture, Thin ribs OMIM:614833
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction ORPHA:141127
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Craniofacial hyperostosis, Joint stiffness, Avascular necrosis of t... ORPHA:581
Tetrasomy 9P
Aplasia/Hypoplasia of the clavicles, Sacral dimple, Hypoplastic scapulae, Micrognathia, Missing r... ORPHA:3310
Lujo Hemorrhagic Fever
Respiratory distress, Stiff neck, Crackles, Nonproductive cough, Rhinitis, Ecchymosis, Purpura ORPHA:319213
Myhre Syndrome
Vertebral fusion, Overlapping toe, Joint stiffness, Short neck, Short toe, Limitation of joint mo... OMIM:139210
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Pleural effusion, Cyanosis, Apnea OMIM:261740
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Thin bony cortex, Increased intervertebral space, Broad ischia, Diaphyseal... OMIM:619727
Weill-Marchesani Syndrome 2
Short metacarpal, Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Short metatarsal, Elbo... OMIM:608328
Fanconi-Bickel Syndrome
Osteopenia, Bowing of the long bones, Rickets ORPHA:2088
Fetal Akinesia Deformation Sequence 1
Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Microg... OMIM:208150
Arboleda-Tham Syndrome
Microretrognathia, Respiratory distress, Brachydactyly, Neonatal respiratory distress, Sandal gap... OMIM:616268
Cryptococcosis
Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Osteolysis, Cough, Pleural effusion ORPHA:1546
Listeriosis
Respiratory distress, Back pain, Stiff neck, Osteomyelitis, Pneumonia, Miscarriage, Jaundice, Res... ORPHA:533
Japanese Encephalitis
Respiratory distress, Stiff neck, Elbow flexion contracture, Respiratory paralysis, Talipes equin... ORPHA:79139
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hal... ORPHA:280
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Wide distal... OMIM:269150
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Osteomalacia, Recurrent fractures, Micrognathia, Joint stiffness, Kyphosis, Abn... ORPHA:534
Monosomy 9Q22.3
Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Joint hyperflexibility, Abnormal... ORPHA:77301
Familial Dysautonomia
Acrocyanosis, Osteolysis, Recurrent fractures, Scoliosis ORPHA:1764
Adnp Syndrome
Joint laxity, Respiratory distress, Broad hallux, Sandal gap, Abnormal toe morphology, Abnormal f... ORPHA:404448
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress OMIM:251000
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Autoamputation of digits, Jaundice, Osteomyelitis leading to amputation due... OMIM:256810
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased sensitivity to hypoxemia, Acrocyanosis, Scoliosis OMIM:223900
Aicardi Syndrome
Block vertebrae, Missing ribs, Small hand, Rib fusion, Hip dysplasia, Supernumerary ribs, Bifid r... ORPHA:50
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Tapered toe, Tapered finger, Asthma, Rib fusion, Clinodactyly of the 5th finger, V... ORPHA:544488
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han... OMIM:146510
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Sandal gap, Progeroid facial appearance, Micrognathia, Pectus excavatum, Decreased fi... OMIM:619127
Simpson-Golabi-Behmel Syndrome
Finger syndactyly, Vertebral fusion, Congenital hip dislocation, Toe syndactyly, Camptodactyly of... ORPHA:373
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Aicardi Syndrome
Block vertebrae, Proximal placement of thumb, Missing ribs, Recurrent pneumonia, Rib fusion, Hemi... OMIM:304050
Microphthalmia, Syndromic 3
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... OMIM:206900
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cyanosis, Osteomalacia, Stippled calcification of the shoulder, Abnormal ca... ORPHA:51608
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension, Abnormal vertebral morphology ORPHA:210122
Rubinstein-Taybi Syndrome 1
Respiratory distress, Micrognathia, Flexion contracture, Hypoplastic iliac wing, Clinodactyly of ... OMIM:180849
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr... OMIM:218600
Classical Ehlers-Danlos Syndrome
Osteopenia, Prematurely aged appearance, Phalangeal dislocation, Poor wound healing, Osteoarthrit... ORPHA:287
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Craniosynostosis ORPHA:1555
Cystinosis
Rickets ORPHA:213
Doors Syndrome
11 pairs of ribs, Respiratory distress, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagit... ORPHA:79500
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... ORPHA:209905
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Abnormal fingertip morphology, Dyspnea, Pneumothorax, Osteoporos... ORPHA:79404
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Cardiorespiratory arrest, Scoliosis, ... ORPHA:293987
Q Fever
Respiratory distress, Osteomyelitis, Pneumonia, Cough, Pleural effusion, Purpura ORPHA:781
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion ORPHA:292
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Back pain, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchy... ORPHA:340
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Short humerus, Short femur, Apnea, Flexion contracture, Polydactyly ORPHA:17
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Erythema, Abnormal rib mo... ORPHA:2907
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Micrognathia, Short neck, Abnormal form of the vertebral bodies, Fin... ORPHA:818
Lowe Oculocerebrorenal Syndrome
Osteomalacia, Camptodactyly of finger, Kyphosis, Hip dislocation, Rickets, Genu valgum, Finger sw... OMIM:309000
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... OMIM:610655
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Recurrent fractures, Bowing of the legs, Micrognathia, O... OMIM:613849
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Small hand, Osteoporosis, Short foot, Scoliosis OMIM:615273
Aortic Arch Interruption
Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea ORPHA:2299
Cranioectodermal Dysplasia 2
Joint laxity, Syndactyly, Rhizomelia, Craniosynostosis, Micrognathia, Pectus excavatum, Short nec... OMIM:613610
Nocardiosis
Respiratory distress, Osteomyelitis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, P... ORPHA:31204
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy, Jaundice OMIM:617156
Lymphatic Malformation 7
Respiratory distress, Pleural effusion, Chylothorax OMIM:617300
Histiocytoid Cardiomyopathy
Cyanosis, Tachypnea, Cough ORPHA:137675
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hallux valgus, Osteopenia, Hyperextensible thumb, Congenital hip dislocation, Overlapping toe, Jo... ORPHA:480880
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea OMIM:115197
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Narrow chest... OMIM:614748
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254534
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Rickets, Osteomalacia OMIM:227810
Alternating Hemiplegia Of Childhood
Respiratory distress, Aspiration, Apnea, Flushing ORPHA:2131
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Osteomyelitis, Pneumonia, Urticaria, Interstitial pneumonitis ORPHA:37042
Double Outlet Left Ventricle
Cyanosis, Tachypnea ORPHA:3427
Fryns Syndrome
Microretrognathia, Rocker bottom foot, Proximal placement of thumb, Short neck, Short thumb, Thin... OMIM:229850
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis ORPHA:268943
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation ORPHA:79241
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... OMIM:233450
Monosomy 9P
Proximal placement of thumb, Micrognathia, Abnormality of the tarsal bones, Short neck, Postaxial... ORPHA:261112
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Clubbing, Hypo... ORPHA:97214
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density, Acrocyanosis, Cutis marmorata OMIM:259900
Toxic Epidermal Necrolysis
Respiratory distress, Restrictive ventilatory defect, Erythema, Cough ORPHA:537
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Micrognathia, Missing ribs, ... ORPHA:97360
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Tapered finger, Hyperlordosis, Hip dislocation, Genu valgum, Hip dysplasia, Talipes equinovarus, ... OMIM:301066
Celiac Disease, Susceptibility To, 1
Osteoporosis, Rickets OMIM:212750
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... ORPHA:99125
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Distal Renal Tubular Acidosis
Osteomalacia, Respiratory insufficiency due to muscle weakness, Rickets, Increased susceptibility... ORPHA:18
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea, Petechiae, Purpura ORPHA:2330
Scimitar Syndrome
Respiratory distress, Pneumothorax, Abnormality of the vertebral column, Cough, Pulmonary arteria... ORPHA:185
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea ORPHA:99050
Cocaine Intoxication
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation ORPHA:90068
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary arterial hypertension, Jaundice, Pulmonary embolism ORPHA:79282
Vater/Vacterl Association
Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ... OMIM:192350
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets OMIM:616026
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Pseudoepiphyses of the metacarpa... OMIM:194190
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Osteomalacia, Rickets ORPHA:309031
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Sacral dimple, Micrognathia, Dyspnea, Erythema, Respiratory failure, Mandib... ORPHA:2556
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Erythema, Abnormal rib morphology, Flexion contractur... ORPHA:2908
Trisomy 18
Microretrognathia, Camptodactyly of finger, Postaxial hand polydactyly, Abnormal rib morphology, ... ORPHA:3380
Wilson Disease
Osteomalacia, Jaundice, Osteoarthritis, Osteoporosis, Joint hypermobility OMIM:277900
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles OMIM:305100
Dermatomyositis
Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Arthritis, Pulmona... ORPHA:221
Primary Hyperoxaluria
Generalized osteosclerosis, Acrocyanosis, Cutis marmorata, Recurrent fractures ORPHA:416
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest ORPHA:31824
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Upper... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Upper... ORPHA:217093
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Short foot, Pseudoepiphyses, ... OMIM:157800
Hypermobile Ehlers-Danlos Syndrome
Apnea, Osteoarthritis, Limitation of joint mobility, Hip dislocation, Osteolysis, Joint hyperflex... ORPHA:285
Ramos-Arroyo Syndrome
Respiratory distress ORPHA:1051
Aicardi-Goutières Syndrome
Multiple joint contractures, Cutis marmorata, Arthritis, Scoliosis, Prolonged neonatal jaundice, ... ORPHA:51
Zttk Syndrome
Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Small hand, Hemivertebrae, Short foo... OMIM:617140
Cystinosis, Nephropathic
Metaphyseal widening, Rickets, Genu valgum, Hypophosphatemic rickets, Rachitic rosary OMIM:219800
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Short neck, Flexion contracture, Narrow chest, Genu varum, Long toe, Prematurely ag... OMIM:264090
Alagille Syndrome 1
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Prolonged neonatal jaundice, Butt... OMIM:118450
Mitochondrial Dna-Associated Leigh Syndrome
Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation ORPHA:255210
Dextrocardia
Congenital hip dislocation, Abnormal rib morphology ORPHA:1666
Charge Syndrome
Abnormal tibia morphology, Abnormal rib morphology, Hemivertebrae, Bifid femur, Respiratory insuf... ORPHA:138
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Brachydactyly, Nasal flaring, Short palm ORPHA:466943
Truncus Arteriosus
Cyanosis, Tachypnea, Aplasia/hypoplasia involving bones of the extremities ORPHA:3384
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Arthritis, Vasculitis in the skin, Acrocyanosis ORPHA:48435
1P36 Deletion Syndrome
11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Kyphosis, Rib fusion, Spinal canal st... ORPHA:1606
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia OMIM:600740
Pagod Syndrome
Abnormal clavicle morphology, Abnormal rib morphology, Death in infancy ORPHA:991
Isolated Arrhinia
Respiratory distress ORPHA:1134
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure, Generalized abnormality of skin ORPHA:805
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Arachnodactyly, Sagittal craniosynostosis, Absent thumb, Kyphoscoliosis, Ri... ORPHA:500150
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Micrognathia, Pectus excavatum, Osteopetrosis, Pulmonary arterial hypertensi... ORPHA:2785
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co... ORPHA:95455
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Cervical ribs ORPHA:2255
Pallister-Hall Syndrome
Hemivertebrae, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Rib fusion, Respiratory i... ORPHA:672
Gitelman Syndrome
Respiratory distress, Gout ORPHA:358
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Osteomalacia, Pneumonia, Bronchiectasis, Arthritis, Vasculitis in the skin OMIM:619381
Infantile Nephropathic Cystinosis
Rickets ORPHA:411629
Townes-Brocks Syndrome
Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... ORPHA:857
Leptospirosis
Respiratory distress, Pleural effusion, Jaundice, Cough ORPHA:509
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures ORPHA:3337
Charge Syndrome
Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Abnorma... OMIM:214800
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Camptodactyly of finger, Metatarsus adductus, Rib fusion, Short foot, Hip dyspl... OMIM:607872
Pmm2-Cdg
Osteopenia, Joint laxity, Respiratory distress, Multiple joint contractures, Kyphoscoliosis, Long... ORPHA:79318
Plague
Respiratory distress, Arthritis, Acute infectious pneumonia ORPHA:707
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
Alström Syndrome
Respiratory distress, Thoracic scoliosis, Dorsocervical fat pad, Kyphosis, Short toe, Chronic pul... ORPHA:64

Histopathology

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

There is no histopathology data for Sp7

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 Sp7.

No publications found that use IMPC mice or data for Sp7.

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
Sp7tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sp7tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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