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Gene: Sox5 MGI:98367

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

SRY (sex determining region Y)-box 5

Synonyms:

A730017D01Rik

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 Sox5 mutations

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

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

Human diseases associated with Sox5 (2 diseases)
Human diseases predicted to be associated with Sox5 (1246 diseases)

The table below shows human diseases associated to Sox5 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Lamb-Shaffer Syndrome		Dental crowding, Overlapping toe, Long fingers, Pectus carinatum, Clinodactyly, Long hallux, Open...	OMIM:616803
Developmental And Speech Delay Due To Sox5 Deficiency		Exaggerated median tongue furrow, Thoracic kyphoscoliosis, Vertebral fusion, Dental crowding, 2-3...	ORPHA:313892

The table below shows human diseases predicted to be associated to Sox5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ...	OMIM:617405
Thoracopelvic Dysostosis	Neonatal respiratory distress, Short ribs	OMIM:187770
Diaphanospondylodysostosis	Respiratory distress, Missing ribs, Short thorax, Cleft palate, Enlarged thorax, Narrow pelvis bo...	ORPHA:66637
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ...	OMIM:156530
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Thoracic Dysostosis, Isolated	Pectus excavatum, Short ribs, Bell-shaped thorax	OMIM:187750
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili...	ORPHA:93296
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Respiratory insufficiency, Stillbirth, Narrow chest, Absent or mini...	OMIM:600972
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Micrognathia, Dyspnea, Aplasia/Hypoplasia of fingers, Cleft palate, Upper a...	ORPHA:141152
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b...	OMIM:224300
Thoracomelic Dysplasia	Bell-shaped thorax, Short ribs	OMIM:273740
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Orofaciodigital Syndrome Iii	Pectus excavatum, Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot...	OMIM:258850
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv...	OMIM:215045
Gordon Syndrome	Finger syndactyly, Camptodactyly of finger, Pectus excavatum, Limitation of joint mobility, Cleft...	ORPHA:376
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Neonatal respiratory distress, Metaphyseal widening, Square...	OMIM:618961
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion...	ORPHA:1145
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Lateral...	OMIM:617895
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A...	OMIM:602196
Lethal Congenital Contracture Syndrome 3	Neonatal death, Respiratory insufficiency	OMIM:611369
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Achondrogenesis, Type Ii	Microretrognathia, Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, S...	OMIM:200610
Ophthalmoplegia, External, With Rib And Vertebral Anomalies	Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Pseudoarthrosis	OMIM:618155
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Delayed vertebral ossification, Enlarged epiphyses, Thoracic kyphoscoliosis, Metaphyseal dysplasi...	OMIM:613330
Cataract-Hypertrichosis-Intellectual Disability Syndrome	Microdontia, Pectus excavatum, Abnormal palate morphology	ORPHA:1375
Thoracomelic Dysplasia	Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Joint hyperflexibility, Abnormal pel...	ORPHA:1803
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Abnormal rib m...	ORPHA:2021
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Deep philtru...	OMIM:613320
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later...	OMIM:269250
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Camptodactyly of finger, Pectus excavatum, Cleft palate, Respiratory insuff...	OMIM:614399
Pierre Robin Syndrome	Neonatal respiratory distress, Micrognathia, Pierre-Robin sequence, Upper airway obstruction, Cle...	OMIM:261800
Catel-Manzke Syndrome	Camptodactyly of finger, Micrognathia, Metatarsus valgus, Pectus excavatum, Joint stiffness, Radi...	ORPHA:1388
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Rocker bottom foot, Micrognathia, High palate, Prenatal death, Camptodactyly, N...	OMIM:618393
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hyp...	OMIM:228520
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Micromelia, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia...	OMIM:151210
Lethal Recessive Chondrodysplasia	Respiratory distress, Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short l...	ORPHA:1423
Fibrochondrogenesis 2	Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti...	OMIM:614524
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Pectus excavatum, Osteoarthritis, Cleft palate, Pectus carinatum, Glossoptosis, Lon...	ORPHA:166100
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Pallister-Hall-Like Syndrome	Death in infancy, Median cleft lip, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand poly...	OMIM:241800
Congenital Myopathy 4B, Autosomal Recessive	Pectus excavatum, Flexion contracture, High palate, Respiratory insufficiency	OMIM:609284
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han...	OMIM:200600
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger...	OMIM:186500
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea...	ORPHA:91359
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Pectus excavatum, Postaxi...	ORPHA:2752
Isolated Pierre Robin Syndrome	Neonatal respiratory distress, Micrognathia, Upper airway obstruction, Cleft palate, Glossoptosis	ORPHA:718
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Micrognathia, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respirat...	ORPHA:1832
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Three M Syndrome 1	Scapular winging, Neonatal respiratory distress, Pectus excavatum, Short thorax, Thick lower lip ...	OMIM:273750
Stuve-Wiedemann Syndrome 2	Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth...	OMIM:619751
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys...	ORPHA:166016
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough	OMIM:263000
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Thorac...	OMIM:187600
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Arachnodactyly, Abnormality of the philtrum, Aplasia/Hypoplasia of the tong...	ORPHA:2759
Cleidocranial Dysplasia 1	Respiratory distress, Micrognathia, Absent frontal sinuses, High, narrow palate, Short middle pha...	OMIM:119600
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormal thumb morphology, Abnormal femur morpholo...	ORPHA:1842
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Micrognathia, Hypoplastic ilia, Fl...	ORPHA:1865
Hypophosphatasia, Infantile	Death in infancy, Apnea, Micromelia, Bowing of the legs, Abnormality of the dentition, Craniosyno...	OMIM:241500
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Fused teeth, High palate, Narrow chest, Thoracic dysplasia, M...	OMIM:614091
16P11.2P12.2 Microduplication Syndrome	Pectus excavatum, Cleft palate	ORPHA:261204
Congenital Myopathy 14	Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi...	OMIM:618414
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Beaded ribs, Decreased fibular...	OMIM:616897
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Tapered finger, Respiratory insufficien...	OMIM:313420
Perching Syndrome	Respiratory distress, Cyanosis	OMIM:617055
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Short ribs, Sprengel a...	OMIM:173800
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ...	OMIM:616300
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Death in infancy, Apnea	OMIM:610992
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Tracheobronchomalacia, Narrow chest, Short phalanx of finger, Hypoplast...	ORPHA:56304
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Orofacial cleft, Cone-shaped epiphyses of the ...	OMIM:615630
Tarp Syndrome	Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hypoplasia of the radi...	OMIM:311900
Pontocerebellar Hypoplasia, Type 1C	Respiratory insufficiency, Respiratory failure, Tongue fasciculations, Death in childhood, Joint ...	OMIM:616081
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Pectus excavatum, Delayed epiphyseal ossification, Clinodactyly, Cutaneous syndactyly, Genu valgu...	ORPHA:166024
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal widening, Limit...	OMIM:224400
Growth Delay Due To Insulin-Like Growth Factor I Resistance	Pectus excavatum, Thin vermilion border, Everted lower lip vermilion, Short palm, Clinodactyly, S...	ORPHA:73273
Spinal Muscular Atrophy, Type I	Respiratory failure, Tongue fasciculations, Respiratory insufficiency, Death in childhood	OMIM:253300
Succinic Acidemia	Respiratory distress	OMIM:600335
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Coxa vara, Bell-sha...	OMIM:602557
Van Den Ende-Gupta Syndrome	Dental crowding, Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, High, narrow pala...	OMIM:600920
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Femoral bowing, Abnorm...	ORPHA:2563
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fractures, Dentinogenesis i...	OMIM:259440
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi...	OMIM:225500
Eng-Strom Syndrome	Pectus excavatum, Arthritis, Camptodactyly of finger, Brachydactyly	ORPHA:1937
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Abnor...	ORPHA:3104
Acropectoral Syndrome	Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly, Pectus carinatum, T...	OMIM:605967
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Micromelia, Micrognathia, Postax...	OMIM:617866
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Seckel Syndrome 4	11 pairs of ribs, Steep acetabular roof	OMIM:613676
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of ...	OMIM:613091
Odontochondrodysplasia 1	Respiratory distress, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short pha...	OMIM:184260
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory insufficiency due to muscle weakness, Respiratory failure, Flexion contracture, Death...	OMIM:300717
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Micrognathia, Respiratory insufficiency due to muscle weakness, Hip dysplasia...	OMIM:611890
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala...	OMIM:157980
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W...	ORPHA:1302
Odontochondrodysplasia	Delayed eruption of teeth, Respiratory distress, Bowing of the long bones, Death in infancy, Micr...	ORPHA:166272
Prieto Syndrome	11 pairs of ribs, Coxa valga, Abnormality of the dentition, Osteoporosis, Radial deviation of fin...	OMIM:309610
Greenberg Dysplasia	Micromelia, Beaded ribs, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mine...	OMIM:215140
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto...	OMIM:135100
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Hyperekplexia 4	Flexion contracture, Respiratory failure, Distal arthrogryposis, High palate, Camptodactyly, Addu...	OMIM:618011
Thoraco-Abdominal Enteric Duplication	Camptodactyly of finger, Intestinal malrotation, Missing ribs, Respiratory insufficiency, Duodena...	ORPHA:1759
Laryngotracheoesophageal Cleft	Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration	ORPHA:2004
Meier-Gorlin Syndrome 1	Respiratory distress, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Flexion contractur...	OMIM:224690
Usmani-Riazuddin Syndrome, Autosomal Recessive	Pectus excavatum, High palate, Joint laxity	OMIM:619548
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Pectus carinatum, Abnormal calcification of the car...	OMIM:271665
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Pectus excavatum, High, narrow pal...	ORPHA:957
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Joint laxity, Respiratory failure, Tongue fasciculations, Hypoplasia of the capital femoral epiph...	OMIM:600561
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Cupped ribs, Metaphyse...	OMIM:250420
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis...	ORPHA:1515
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Achondroplasia	Respiratory distress, Death in infancy, Brachydactyly, Radial bowing, Rhizomelia, Short femur, Th...	OMIM:100800
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Pectus excavatum, Thoracic scoliosis, Shield chest, Bilateral cleft lip	OMIM:616994
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Tapered finger, Pectus excavatum, Pectus carinatum, Oligodontia, Everted lower lip vermilion, Ano...	ORPHA:276630
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Hyperextensibility of the finger joints, Neonatal respiratory distress, Microgn...	OMIM:618356
X-Linked Intellectual Disability, Abidi Type	Pectus excavatum, Non-midline cleft lip, Cleft palate	ORPHA:85273
Auriculocondylar Syndrome 2A	Respiratory distress, Dental crowding, Apnea, Micrognathia, Microglossia, Dental malocclusion, Cl...	OMIM:614669
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Postaxial hand polydactyly, Abnormal rib morphology, Pulmonary arterial hyp...	ORPHA:2519
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot,...	OMIM:271225
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory...	OMIM:265120
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Pectus excavatum,...	ORPHA:63446
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap...	OMIM:608728
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Bent Bone Dysplasia Syndrome 2	Osteopenia, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, Decreased calvarial ossificat...	OMIM:620076
Chromosome 3Q29 Deletion Syndrome	Thin upper lip vermilion, Tapered finger, Pectus excavatum, Long fingers, Pectus carinatum, Short...	OMIM:609425
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micrognathia, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Narrow greater sciatic no...	OMIM:617925
Scarf Syndrome	Craniosynostosis, Pectus carinatum, Joint hyperflexibility, Short sternum, Long philtrum, Enamel ...	ORPHA:3134
Fibrosis Of Extraocular Muscles, Congenital, 3C	Pectus excavatum, Thin upper lip vermilion	OMIM:609384
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Limite...	ORPHA:266
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Short Stature And Facioauriculothoracic Malformations	Cleft upper lip, Pectus excavatum, Cleft palate, Pectus carinatum, High palate, Cervical ribs	OMIM:609654
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Apnea, Distal wideni...	OMIM:602535
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Abnormality of the dentition, Carious teeth, Pectus excavatum, Radioulnar synostosis, Abnormal pa...	ORPHA:3270
Intermediate Nemaline Myopathy	Multiple prenatal fractures, High, narrow palate, Abnormal thorax morphology, Flexion contracture...	ORPHA:171433
Cleft Palate-Large Ears-Small Head Syndrome	Micrognathia, Pectus excavatum, Gingival overgrowth, Cleft palate, Ulnar deviation of finger, Sho...	ORPHA:2013
Tarp Syndrome	Finger syndactyly, Apnea, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavat...	ORPHA:2886
Cooper-Jabs Syndrome	Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Resp...	ORPHA:1488
Congenital Myopathy 24	Pectus excavatum, Scapular winging, Reduced vital capacity, High palate	OMIM:617336
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Pectus excavatum, Multiple prena...	OMIM:301014
Arthrogryposis, Distal, Type 1C	Pursed lips, Hip contracture, Shoulder flexion contracture, Rocker bottom foot, Short neck, Campt...	OMIM:619110
High Altitude Pulmonary Edema	Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough	ORPHA:330012
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Micrognathia, Flexion contracture, Hip dislocation, Elbow flexion contracture, Hyperext...	ORPHA:75840
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Intestinal malrotation, Micrognathia, Pectus excavatum, Deep philtrum, Orofacial cleft, Incomplet...	ORPHA:77300
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals	OMIM:618724
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Tapered finger, Pectus excavatum, Downturned corners of mouth, High palate, Short philtrum	ORPHA:85280
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook, Early ossification of capital fe...	OMIM:208500
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, Neonatal deat...	OMIM:269860
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal cupping, Metaphy...	OMIM:156400
Ulbright-Hodes Syndrome	Respiratory distress, Micrognathia, High palate, Phocomelia, Short metacarpal, Humeroradial synos...	ORPHA:3404
Non-Distal Duplication 10Q	Micrognathia, Pectus excavatum, Joint hyperflexibility, Everted lower lip vermilion, High palate	ORPHA:1695
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro...	ORPHA:2839
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Pectus excavatum, Multiple prenatal fractures, Pectus carinatum, Decreased calvarial ossification...	OMIM:259410
Pulmonary Alveolar Proteinosis, Acquired	Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co...	OMIM:610910
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral densi...	ORPHA:50945
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea...	ORPHA:1303
Craniofrontonasal Dysplasia	Abnormal clavicle morphology, Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly ...	ORPHA:1520
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Thin upper lip vermilion, Perianal abscess, Pectus excavatum, Small hand, Pectus carinatum, Wide ...	OMIM:614684
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Micromelia, Dumbbell-shaped long bone, Lateral ...	ORPHA:3144
Cornelia De Lange Syndrome 1	Micromelia, Micrognathia, Proximal placement of thumb, High, narrow palate, Downturned corners of...	OMIM:122470
Desbuquois Dysplasia 2	Dental crowding, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx of finger, B...	OMIM:615777
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Scarf Syndrome	Barrel-shaped chest, Coronal craniosynostosis, Pectus carinatum, Short sternum, Lambdoidal cranio...	OMIM:312830
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Autosomal Dominant Spondylocostal Dysostosis	Missing ribs, Short thorax, Abnormal rib morphology, Cleft palate, Posterior rib fusion	ORPHA:1797
Neuralgic Amyotrophy	Acrocyanosis, Respiratory insufficiency	ORPHA:2901
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Proximal placement of thumb, Clinodactyly of the 5th toe, Thick vermilion border, High palate, Sh...	OMIM:620113
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Joint laxity, Pectus excavatum, Reduced forced vital capacity, Respiratory insufficiency due to m...	OMIM:617066
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac...	ORPHA:264675
Osteogenesis Imperfecta, Type X	Osteopenia, Respiratory distress, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint...	OMIM:613848
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Bowing of the legs, Pectus excavatum, Limb undergrowth, Limited elbow extension, Thoracic hypoplasia	ORPHA:156728
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Thin upper lip vermilion, Neonatal respiratory distress, Death in infancy, ...	OMIM:615042
Hyperparathyroidism, Transient Neonatal	Osteopenia, Respiratory distress, Short femur, Metaphyseal spurs, Recurrent fractures, Undulate r...	OMIM:618188
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Wide anterior fontanel, Fibular hypoplasia, High...	OMIM:201170
Radio-Renal Syndrome	Respiratory distress, Micromelia, Micrognathia, High, narrow palate, Dyspnea, Hypoplasia of the r...	ORPHA:3015
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Micrognathia, Aplasia/Hypoplasia of the patella, ...	OMIM:613803
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Orofaciodigital Syndrome Type 5	Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ...	ORPHA:2919
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Diaphanospondylodysostosis	Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b...	OMIM:608022
Cutis Laxa, Autosomal Recessive, Type Iie	Joint laxity, Syndactyly, Brachydactyly, Craniosynostosis, Pectus excavatum, Thick lower lip verm...	OMIM:619451
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition	OMIM:216300
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h...	OMIM:252600
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Thin upper lip vermilion, Osteopenia, Dental crowding, Sandal gap, Pectus excav...	OMIM:617877
Breath-Holding Spells	Cyanosis	OMIM:607578
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Irregular acetabular roof, Irregular iliac crest, Cleft soft palate, Kypho...	ORPHA:93316
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten...	ORPHA:2414
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Down-sloping shoulders, Mic...	OMIM:114300
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious...	OMIM:617102
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Scapular winging, Pectus excavatum, Achilles tendon contracture, Knee flexion co...	OMIM:615290
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal thorax morphology, Abnormal respiratory system physiology...	ORPHA:50251
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Micrognathia, Pectus excavatum, Submucous cleft hard palate, Unilateral cleft l...	OMIM:619122
Turnpenny-Fry Syndrome	Dental crowding, Pectus carinatum, Downturned corners of mouth, Prominent interphalangeal joints,...	OMIM:618371
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Lateral clavicle hook, Preaxial ha...	OMIM:263520
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Micrognathia, Flexion contracture, Gingival overgrowth, Narrow palate, 2-...	OMIM:618186
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Laryngeal Abductor Paralysis	Stridor, Cyanosis	OMIM:150260
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Micrognathia, Wide mouth, Widely spaced teeth, Clinodactyly	OMIM:300934
Monosodium Glutamate Sensitivity	Dyspnea, Flushing	OMIM:231630
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Kniest Dysplasia	Respiratory distress, Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Pectus excavatum, D...	OMIM:156550
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S...	OMIM:615503
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Apnea, Micrognathia, Proximal femoral metaphyseal irregularity, Tachypnea, Early ossification of ...	ORPHA:397715
Renpenning Syndrome	Macrodontia, Joint stiffness, Pectus excavatum, High, narrow palate, Abnormal thumb morphology, A...	ORPHA:3242
Cdags Syndrome	Sagittal craniosynostosis, Rectourethral fistula, Cleft palate, Rectovaginal fistula, Short ribs,...	OMIM:603116
Nemaline Myopathy 8	Death in infancy, Respiratory failure, Flexion contracture	OMIM:615348
Spondylocostal Dysostosis 5	Vertebral fusion, Missing ribs, Pectus carinatum, Posterior rib fusion, Supernumerary ribs	OMIM:122600
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Cleft soft palate, Micrognathia, Pectus excav...	OMIM:606851
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	11 pairs of ribs, Pursed lips, Hip contracture, Neonatal respiratory distress, Micrognathia, Meta...	OMIM:616266
Orofaciodigital Syndrome Iv	Toe syndactyly, Hamartoma of tongue, Accessory oral frenulum, Micrognathia, Postaxial polydactyly...	OMIM:258860
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio...	ORPHA:2635
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c...	OMIM:300863
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Clin...	OMIM:117650
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi...	OMIM:308050
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti...	OMIM:304120
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Thin ribs, High palate, Neonatal death, Joint hypermobility	OMIM:300219
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Hip contracture, Rocker bottom foot, Ankle flexion contracture, Micrognathi...	ORPHA:1143
Opsismodysplasia	Abnormally ossified vertebrae, Tapered finger, Pectus excavatum, Joint stiffness, Squared iliac b...	ORPHA:2746
Asbestos Intoxication	Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh...	ORPHA:2302
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Broad long bones, Abnormal metatarsal morphology, Pectus excavatum, Narrow philtrum, Thick lower ...	ORPHA:163654
Chitayat Syndrome	Hallux valgus, Respiratory distress, Pectus excavatum, Thick vermilion border, Tracheomalacia, Br...	OMIM:617180
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Narrow greater sciatic notch, Long fibula, Narrow chest, Short p...	OMIM:250220
Cranioectodermal Dysplasia 4	Joint hypermobility, Sagittal craniosynostosis, Pectus excavatum, Recurrent pneumonia, Decreased ...	OMIM:614378
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, Cra...	OMIM:251230
Congenital Velopharyngeal Incompetence	Velopharyngeal insufficiency, Abnormal palate morphology	ORPHA:2291
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Anal stenosis, Block vertebrae, Missing ribs, Pectus excavatum, Reduced forced ...	OMIM:613686
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Submucous cleft hard palate, Hyperextensibility at wrists, Synovitis, Lumbar...	OMIM:601492
Arthrogryposis, Distal, Type 5	Arachnodactyly, Limited wrist extension, Reduced forced expiratory volume in one second, Pectus e...	OMIM:108145
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Tongue fasciculations, Respiratory insufficiency	ORPHA:238329
Mitral Valve Prolapse 1	Pectus excavatum, High, narrow palate, High palate	OMIM:157700
Braddock Syndrome	Neonatal respiratory distress, Missing ribs, Pectus excavatum, Preaxial hand polydactyly, Microgn...	ORPHA:52047
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu...	ORPHA:90117
Hallermann-Streiff Syndrome	Natal tooth, Recurrent fractures, Tracheomalacia, Abnormality of the dentition, Micrognathia, Hig...	ORPHA:2108
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Thin upper lip vermilion, Short humerus, Short femur, Rhizomelia, Sandal ga...	OMIM:607143
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:254210
Osteofibrous Dysplasia, Susceptibility To	Pectus excavatum, Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Adducted Thumbs Syndrome	Craniosynostosis, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, Respiratory in...	OMIM:201550
Spondyloepiphyseal Dysplasia Congenita	Barrel-shaped chest, Respiratory distress, Limited elbow movement, Hypoplasia of the odontoid pro...	OMIM:183900
Vacterl Association With Hydrocephalus	Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Stillbirth, Anal ...	OMIM:276950
Arthrogryposis Multiplex Congenita 6	Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Arthrogryposis multipl...	OMIM:619334
Basal Cell Nevus Syndrome 1	Vertebral fusion, Odontogenic keratocysts of the jaw, Down-sloping shoulders, Cleft upper lip, Ha...	OMIM:109400
Distal Duplication 15Q	Arachnodactyly, Camptodactyly of finger, Micrognathia, Pectus excavatum, Joint stiffness, Downtur...	ORPHA:1707
Hypoglossia With Situs Inversus	Respiratory distress, Micrognathia, Upper airway obstruction, High palate, Hypodontia, Narrow mou...	OMIM:612776
Donnai-Barrow Syndrome	Wide anterior fontanel, Short sternum, Intestinal malrotation	OMIM:222448
Camptodactyly Syndrome, Guadalajara Type 2	Camptodactyly of finger, Short 3rd toe, Pectus excavatum, Hip dislocation, Patellar hypoplasia, S...	ORPHA:1326
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Tented upper lip vermilion, Micrognathia, Deep philtrum, Flexion contracture, Tibial bowing, Shor...	ORPHA:96334
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Nail-Patella Syndrome	Glenoid fossa hypoplasia, Cleft upper lip, Pectus excavatum, Patellar aplasia, Hypoplastic radial...	OMIM:161200
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Brachyolmia, Maroteaux Type	Pectus excavatum, Short thorax	ORPHA:93302
Holt-Oram Syndrome	Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormalit...	ORPHA:392
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Median cleft lip, Accessory oral frenulum, Postaxial polydactyly, Supernume...	OMIM:617088
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Joint laxity, Exaggerated cupid's bow, Overlapping toe, Pectus excavatum, Flexion contr...	ORPHA:254528
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Abnormal dental morphology, Micrognathia, Pectus excavatum, Abnorma...	ORPHA:2522
Ceroid Lipofuscinosis, Neuronal, 10	Apnea, Split hand, Respiratory insufficiency, Respiratory failure, Neonatal death	OMIM:610127
Atelosteogenesis, Type Ii	Death in infancy, Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Short neck, Increased inte...	OMIM:256050
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Cyanosis, Red...	OMIM:610913
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Hypoplastic ilia, Pectu...	OMIM:615349
Lujan-Fryns Syndrome	Dental crowding, Arachnodactyly, Camptodactyly of finger, Micrognathia, Abnormality of the dentit...	ORPHA:776
Myopathy, Myofibrillar, 8	Scapular winging, Reduced vital capacity, Micrognathia, Pectus excavatum, Distal joint laxity, Ac...	OMIM:617258
Noonan Syndrome 12	Anteriorly placed anus, 11 pairs of ribs, Pectus excavatum, Proximal placement of thumb	OMIM:618624
Anauxetic Dysplasia 3	Short metacarpal, Thoracolumbar kyphoscoliosis, Joint hypermobility, Hip subluxation, Pectus exca...	OMIM:618853
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Respiratory insufficiency, Bell-shaped thorax, Shor...	OMIM:615633
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the...	OMIM:184250
Seckel Syndrome 5	11 pairs of ribs, Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate,...	OMIM:613823
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contracture, Short...	OMIM:611717
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Congenital contracture, Respiratory failure	OMIM:225753
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Spinocerebellar Ataxia, Autosomal Recessive 31	Pectus excavatum, Gingival overgrowth, High palate, Death in childhood, Clinodactyly of the 5th f...	OMIM:619422
Congenital Muscular Dystrophy With Intellectual Disability	Multiple joint contractures, Abnormality of the tongue muscle, Hip dislocation, Respiratory insuf...	ORPHA:370968
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Bicoronal synostosis, Dental crowding, Joint stiffness, Tracheobronchomalacia, ...	OMIM:619184
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Cranioectodermal Dysplasia 1	High, narrow palate, High palate, Widely spaced teeth, Narrow chest, Microdontia, Anodontia, Join...	OMIM:218330
Qazi-Markouizos Syndrome	Tapered finger, Pectus excavatum, High, narrow palate, Hypoplasia of teeth, Delayed ossification ...	ORPHA:3010
Postsynaptic Congenital Myasthenic Syndromes	Thoracic kyphoscoliosis, Reduced vital capacity, Orthopnea, Restrictive ventilatory defect, Respi...	ORPHA:98913
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Open bit...	ORPHA:1327
Aarskog-Scott Syndrome	Delayed eruption of teeth, Short palm, Finger syndactyly, Camptodactyly of finger, Cleft upper li...	ORPHA:915
Myopathic Ehlers-Danlos Syndrome	Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Ankle flexion ...	ORPHA:536516
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla...	ORPHA:1856
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Enlargement of the ...	OMIM:600081
Uvula, Bifid	Bifid uvula	OMIM:192100
Choanal Atresia	Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno...	ORPHA:137914
Congenital Diaphragmatic Hernia	Respiratory distress, Prominent sternum, Intestinal malrotation, Hypoxemia	ORPHA:2140
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Macroglossia, High pala...	ORPHA:254864
Omphalocele-Cleft Palate Syndrome, Lethal	Death in infancy, Bifid uvula, Cleft palate	OMIM:258320
Developmental Delay With Variable Neurologic And Brain Abnormalities	Down-sloping shoulders, Micrognathia, Pectus excavatum, Knee flexion contracture, Widely spaced t...	OMIM:619694
Osteogenesis Imperfecta, Type Xxi	Barrel-shaped chest, Recurrent fractures, Bowing of the legs, Coxa valga, Pectus excavatum, Osteo...	OMIM:619131
Aortic Aneurysm, Familial Thoracic 9	Pectus excavatum, Arachnodactyly, High palate, Pectus carinatum	OMIM:616166
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Narrow chest, Neonatal death, Vertebral hypoplasia...	OMIM:108720
Trisomy X	Clinodactyly of the 5th finger, Joint hyperflexibility, Hip dysplasia, Pectus excavatum	ORPHA:3375
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Brachydactyly, Pectus excavatum, Abnormal thumb morphology, Abnormal finger morphology, Cone-shap...	ORPHA:2511
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria	ORPHA:100057
Familial Nasal Acilia	Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis	ORPHA:922
Campomelic Dysplasia	Respiratory distress, Irregular dentition, Thoracic scoliosis, Apnea, Anterior tibial bowing, Mic...	OMIM:114290
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Micrognathia, Short metatarsal, Widely spaced teeth, High palate, Narrow chest, Micro...	OMIM:266920
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance	OMIM:619466
Schinzel-Giedion Midface Retraction Syndrome	Long clavicles, Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand p...	OMIM:269150
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Joint laxity, Multiple joint contractures, Pectus excavatum, Respiratory insufficiency due to mus...	ORPHA:486815
Moebius Syndrome	Respiratory distress, Syndactyly, Brachydactyly, Micrognathia, Abnormality of the dentition, Spli...	OMIM:157900
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Respiratory distress, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebra...	OMIM:612852
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Thin upper lip vermilion, Craniosynostosis, Pectus excavatum, Pyloric stenosis, High palate	ORPHA:314575
Mosaic Variegated Aneuploidy Syndrome 1	Micrognathia, Cleft palate, Short sternum, Long philtrum, Triangular mouth, Duodenal atresia	OMIM:257300
Proximal Xq28 Duplication Syndrome	Pectus excavatum, Tented upper lip vermilion, Everted lower lip vermilion, Joint stiffness	ORPHA:1762
Aortic Aneurysm, Familial Thoracic 12	Spontaneous pneumothorax, Pectus excavatum, Chronic pulmonary obstruction, Arthritis, High palate	OMIM:619825
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Exertional dyspnea	OMIM:250800
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness, Micrognathia	OMIM:300580
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
Ear-Patella-Short Stature Syndrome	Respiratory distress, Camptodactyly of finger, Aplastic clavicle, Micrognathia, Craniosynostosis,...	ORPHA:2554
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Arachnodactyly, Micrognathia, High, narrow palate, Dyspnea, Wide mouth, Abn...	ORPHA:2707
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Tongue fasciculations, Respiratory failure	OMIM:613435
Butyrylcholinesterase Deficiency	Apnea	OMIM:617936
Muscular Dystrophy, Congenital, 1B	Achilles tendon contracture, Respiratory failure	OMIM:604801
Cole-Carpenter Syndrome 2	Microretrognathia, Osteopenia, Recurrent fractures, Pectus excavatum, Thin ribs, High palate, Lam...	OMIM:616294
Renal Hypodysplasia/Aplasia 4	Respiratory failure	OMIM:619887
Klippel-Feil Syndrome 2, Autosomal Recessive	Short neck, Cleft upper lip, Cleft palate, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 ve...	OMIM:214300
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Pectus excavatum, High palate, Narrow chest, Pectus carinatum	OMIM:300676
Cardiomyopathy, Dilated, 2H	Neonatal death, Tachypnea, Cardiorespiratory arrest	OMIM:620203
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Pectus carinatum, Reduced bone mineral density, Abnormal sternum...	ORPHA:2911
Distal Monosomy 7Q36	Micrognathia, Pectus excavatum, Non-midline cleft lip, Symphalangism affecting the phalanges of t...	ORPHA:1636
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Pectus excavatum, Clinodactyly, Flattened epiphysis, Pectus...	OMIM:607131
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Pyruvate Dehydrogenase Deficiency	Pectus excavatum, Dyspnea, Tachypnea, Osteolytic defects of the middle phalanx of the 4th toe, Hi...	ORPHA:765
Mohr Syndrome	Micrognathia, Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndacty...	OMIM:252100
Frontoocular Syndrome	Micrognathia, Pectus excavatum, Narrow philtrum, High palate, Narrow mouth, Coronal craniosynostosis	OMIM:605321
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Joint laxity, Scapular winging, Neonatal respiratory distress, Monkey wrench f...	OMIM:618870
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c...	OMIM:618469
Weaver Syndrome	Short fourth metatarsal, Toe clinodactyly, Overlapping toe, Coxa valga, Wide distal femoral metap...	OMIM:277590
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft palate, Abnormal shoulder ...	ORPHA:2345
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:264700
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ...	ORPHA:1436
Mcdonough Syndrome	Micrognathia, Open bite, Pectus excavatum, Dental malocclusion, Short philtrum, Abnormal palate m...	ORPHA:2471
Legius Syndrome	Pectus excavatum, High, narrow palate, High palate, Micrognathia	OMIM:611431
Severe Congenital Nemaline Myopathy	Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Respirat...	ORPHA:171430
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Congenital hip dislocation, Femur fracture, Multiple joint contractures, Micrognat...	OMIM:618291
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Narrow chest, Respiratory failure	ORPHA:1861
Typical Nemaline Myopathy	Micrognathia, Pectus excavatum, Flexion contracture, Hip dislocation, Respiratory insufficiency, ...	ORPHA:171436
Becker Nevus Syndrome	Micromelia, Pectus excavatum, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumer...	ORPHA:64755
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis	ORPHA:71277
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
X-Linked Hypophosphatemia	Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,...	ORPHA:89936
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Pectus excavatum, Finger joint hypermobility, Cleft palate, Cleft upper lip	OMIM:244200
Coffin-Siris Syndrome 6	Micrognathia, Pectus excavatum, High, narrow palate, Deep philtrum, Cleft palate, Short philtrum,...	OMIM:617808
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Anteriorly placed anus, 11 pairs of ribs, Rhizomelia, Narrow chest	OMIM:617661
Distal Duplication 18Q	Abnormal dental morphology, Arachnodactyly, Camptodactyly of finger, Micrognathia, Carious teeth,...	ORPHA:1716
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea	OMIM:616277
Seckel Syndrome 1	11 pairs of ribs, Ivory epiphyses, Dental crowding, Selective tooth agenesis, Abnormal finger fle...	OMIM:210600
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Restrictive Dermopathy 2	Microretrognathia, Respiratory distress, Rectal prolapse, Overtubulated long bones, Short clavicles	OMIM:619793
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia...	OMIM:212780
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Oligodontia, Calvarial osteosclerosis, Cleft soft palate, Gingival overgrowth, S...	OMIM:616331
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hamartoma of tongue, Accessory oral frenulum, Micromelia, Aplastic clavicle, Postaxial polydactyl...	OMIM:616546
Orofacial Cleft 13	Oligodontia, Cleft soft palate, Micrognathia	OMIM:613857
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Arthrogryposis-like h...	OMIM:620011
Gaucher Disease Type 2	Respiratory distress, Abnormal pattern of respiration, Cough	ORPHA:77260
Simpson-Golabi-Behmel Syndrome, Type 1	Pectus carinatum, Narrow greater sciatic notch, Short palm, Exaggerated median tongue furrow, Neo...	OMIM:312870
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Boudin-Mortier Syndrome	Long toe, Mallet finger, Joint laxity, Arachnodactyly, Pectus excavatum, Long fingers, Pseudoepip...	OMIM:619543
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli...	ORPHA:440354
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Enlargement of the ...	OMIM:241530
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Pectus excavatum, Tooth malposition, High palate, Cleft palate	OMIM:618603
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Cyanosis, Hypoxemia	ORPHA:464453
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognath...	OMIM:620369
Becker Nevus Syndrome	Pectus excavatum, Cervical ribs	OMIM:604919
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Syndactyly, Neonatal respiratory distress, Proximal placement of thumb, Mic...	OMIM:217980
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:277440
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Hallux valgus, Exaggerated cupid's bow, Broad hallux, Joint hypermobility, Micrognathia, Tapered ...	OMIM:618659
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ...	OMIM:268310
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr...	ORPHA:2257
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Hi...	ORPHA:3472
Cranioectodermal Dysplasia 2	Micrognathia, Fused teeth, High palate, Widely spaced teeth, Narrow chest, Microdontia, Joint lax...	OMIM:613610
Hypocalcemic Vitamin D-Resistant Rickets	Coarse metaphyseal trabecularization, Osteomalacia, Premature loss of primary teeth, Abnormality ...	ORPHA:93160
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft palate, Bifid uvula	ORPHA:2521
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Respiratory distress, Micromelia, Long philtrum, Adducted thumb	ORPHA:50810
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, Metaphyseal sclerosis,...	OMIM:260400
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Reduced vital capacity, Achilles tendon contracture, Respiratory failure, Noctu...	OMIM:603689
16P13.11 Microduplication Syndrome	Arachnodactyly, Craniosynostosis, Pectus excavatum, Joint hyperflexibility, Hand polydactyly	ORPHA:261243
Hypoadrenocorticism, Familial	Cyanosis, Apnea	OMIM:240200
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Arachnodactyly, Joint stiffness, Pectus excavatum, Deviation of finger, Congenital finger flexion...	ORPHA:1154
Coffin-Siris Syndrome 11	Cleft soft palate, Esophageal atresia, Small hand, Downturned corners of mouth, Wide mouth, High ...	OMIM:618779
Orofaciodigital Syndrome Type 10	Cleft soft palate, Accessory oral frenulum, Micrognathia, Duplication of thumb phalanx, Tarsal sy...	ORPHA:2756
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Micrognathia, Missing ribs, Abnormal rib morphology, Orofacial cle...	ORPHA:3301
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Pectus excavatum, Thoracic kyphosis, Widely spaced teeth, Clinodactyly	OMIM:619092
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Bardet-Biedl Syndrome 16	Respiratory distress, Polydactyly	OMIM:615993
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Exaggerated cupid's bow, Arachnodactyly, Camptodactyly of finger, Tapered fing...	ORPHA:2215
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Thoracic scoliosis, Respiratory failure, High palate, Chy...	OMIM:620278
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Pectus excavatum, Deep philtrum, Thick lower lip vermilion, Thin vermilion border,...	ORPHA:2701
Caudal Regression Syndrome	Missing ribs, Joint stiffness, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, ...	ORPHA:3027
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Monosomy 18P	Micrognathia, Carious teeth, Pectus excavatum, Cleft palate, Downturned corners of mouth, Enlarge...	ORPHA:1598
Shprintzen-Goldberg Syndrome	Osteopenia, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, ...	ORPHA:2462
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Missing ribs, Rib fusion, Thin ribs, Short ribs, Anal atresia	OMIM:271520
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con...	OMIM:271640
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Cleft soft palate, Sandal gap, Abnormality of the dentition, Micrognathia, Clinodac...	OMIM:618529
Stickler Syndrome, Type I	Arachnodactyly, Micrognathia, Pectus excavatum, Joint stiffness, Irregular femoral epiphysis, Sub...	OMIM:108300
Acrocraniofacial Dysostosis	Craniosynostosis, Micrognathia, Tapered finger, Pectus excavatum, Coxa valga, Cleft palate, Ulnar...	ORPHA:949
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Crumpled long bones, Death in infancy, Rhizomelia, Protrusio ...	OMIM:610682
Mitochondrial Complex I Deficiency, Nuclear Type 18	Wide anterior fontanel, Respiratory failure, Death in infancy	OMIM:618240
Congenital Myopathy 22A, Classic	Hip contracture, Thoracic scoliosis, Scapular winging, Dental crowding, Micrognathia, Pectus exca...	OMIM:620351
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO	ORPHA:747
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ...	ORPHA:3201
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Thin bony cortex, Osteomalacia, Irregular, rachitic-like metaphyses, S...	ORPHA:289157
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Elbow contracture, Allergic rhinitis, Pectus excavatum, Asthma, 2-3 toe syndactyly, K...	OMIM:618162
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Respiratory failure, Flexion contracture, Recur...	ORPHA:2590
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Apnea, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High pala...	OMIM:300373
Focal Dermal Hypoplasia	Finger syndactyly, Coarse metaphyseal trabecularization, Toe syndactyly, Abnormal dental morpholo...	ORPHA:2092
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Abnormality of the dentition, Micrognathia, Pectus excavatum, Thick low...	OMIM:179613
Christianson Syndrome	Death in early adulthood, Pectus excavatum, Abnormal thorax morphology, Joint hyperflexibility, A...	ORPHA:85278
Multiple Mitochondrial Dysfunctions Syndrome 3	Arthrogryposis multiplex congenita, Respiratory failure, High palate, Respiratory insufficiency	OMIM:615330
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Ankle flexion contracture, Micrognathia, High, narrow palate, Small hand, U...	OMIM:608799
Joubert Syndrome 21	Apnea, Dyspnea, Bell-shaped thorax, Respiratory failure, Short ribs, Chronic sinusitis	OMIM:615636
Ritscher-Schinzel Syndrome 1	Syndactyly, Missing ribs, Micrognathia, Cleft palate, Anal atresia	OMIM:220210
Pneumocystosis	Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins...	ORPHA:723
Agnathia-Otocephaly Complex	Respiratory distress, Tracheomalacia, Micrognathia, Aglossia, Cleft palate, Narrow mouth, Mandibu...	OMIM:202650
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph...	OMIM:154400
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Respiratory insuffic...	ORPHA:70
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Pectus excavatum, High palate	OMIM:245349
Galloway-Mowat Syndrome 7	Hallux valgus, Arachnodactyly, Micrognathia, Pectus excavatum, Cleft lip, Partial duplication of ...	OMIM:618348
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1647
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Rhizomelia, Wide anterior fontanel, Tibial bowing, Femoral b...	OMIM:616482
Pfeiffer Syndrome Type 2	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrota...	ORPHA:93259
Intellectual Developmental Disorder, Autosomal Recessive 78	Microretrognathia, Pectus excavatum, Asthma, High palate, Narrow chest, Clinodactyly of the 5th f...	OMIM:620237
Acute Interstitial Pneumonia	Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato...	ORPHA:79126
Orofaciodigital Syndrome Type 2	Apnea, Micrognathia, Tachypnea, Finger clinodactyly, High palate, Short tibia, Finger syndactyly,...	ORPHA:2751
Orofaciodigital Syndrome Xix	Toe syndactyly, Broad hallux, Cleft soft palate, Accessory oral frenulum, Type A brachydactyly, C...	OMIM:620107
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Multiple prenatal fractures, Flexion contracture, Respiratory fail...	OMIM:616867
Congenital Myopathy 17	Tented upper lip vermilion, Overlapping toe, Tapered finger, Pectus excavatum, Dental malocclusio...	OMIM:618975
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Abnormal dental enamel morphology, Micr...	ORPHA:1798
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Split hand, Apnea, Respiratory failure	ORPHA:168486
Tyshchenko Syndrome	Pectus excavatum, High, narrow palate, Cleft palate, Narrow palate, High palate, Narrow chest	OMIM:615102
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Micrognathia, Pectus carinatum, Shoulder dislocation, Narrow chest, Microdontia, Disl...	OMIM:245600
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Carious teeth, Abnormal rib morphology, Bif...	ORPHA:2769
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Micrognathia, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, High pal...	OMIM:182212
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Thin upper lip vermilion, Long philtrum	OMIM:614741
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,...	ORPHA:70588
Coffin-Lowry Syndrome	Pectus carinatum, High palate, Widely spaced teeth, Advanced eruption of teeth, Short metacarpal,...	ORPHA:192
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Osteopathia striata, Pectus carinatum, High palate, Short philt...	OMIM:212720
Global Developmental Delay With Or Without Impaired Intellectual Development	Pectus excavatum, Thin upper lip vermilion, Oligodontia	OMIM:618330
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Sandal gap, Micrognathia, Tapered finger, Pectus excavatum, Thin vermilion...	ORPHA:1438
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Short thumb, Sub...	ORPHA:2712
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Micrognathia, High, narrow palate, Reduced bone mineral density, Enlarged thorax, Inf...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Micrognathia, High, narrow palate, Reduced bone mineral density, Enlarged thorax, Inf...	ORPHA:99228
Monosomy X	Osteopenia, Micrognathia, High, narrow palate, Reduced bone mineral density, Enlarged thorax, Inf...	ORPHA:99226
Turner Syndrome	Osteopenia, Micrognathia, High, narrow palate, Reduced bone mineral density, Enlarged thorax, Inf...	ORPHA:881
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Hamartoma of tongue, Accessory oral f...	OMIM:277170
Osteoglophonic Dysplasia	Osteopenia, Respiratory distress, Short metatarsal, Eruption failure, High palate, Short palm, Sh...	OMIM:166250
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, High palate, Pneumonia	ORPHA:596
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Short palm, Micromelia, Cleft upper lip, Micrognathia, Esophageal atresia, Abnormal pelvis bone o...	ORPHA:93271
Hogue-Janssen Syndrome 2	Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Pectus excavatum, Hip dysplasia,...	OMIM:616362
Tetrasomy 5P	Respiratory distress, Overlapping toe, Short hallux, Micrognathia, Pectus excavatum, Long fingers...	ORPHA:3309
Melnick-Needles Syndrome	Delayed eruption of teeth, Short humerus, Hypoplastic scapulae, Micrognathia, Coxa valga, Pectus ...	OMIM:309350
Noonan Syndrome 11	Pectus excavatum, Thick vermilion border	OMIM:618499
Coffin-Siris Syndrome 1	Conical tooth, Prominent interphalangeal joints, Short philtrum, High palate, Microdontia, Promin...	OMIM:135900
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Pneumonia, Limited elbow movement, Limited wrist movement, Dyspnea, Short f...	OMIM:617809
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ...	OMIM:245400
3C Syndrome	Finger syndactyly, Death in infancy, Intestinal malrotation, Micrognathia, Missing ribs, High, na...	ORPHA:7
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Joint laxity, Thin upper lip vermilion, Down-sloping shoulders, Micrognathia, Deviation of the 5t...	ORPHA:391408
Slc35A1-Cdg	Respiratory distress, Pneumonia, Subcutaneous hemorrhage, Hypoxemia	ORPHA:238459
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Joint contracture	OMIM:617977
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Inspirator...	ORPHA:79127
Schwartz-Jampel Syndrome	Apnea, Micromelia, Micrognathia, Coxa vara, Pectus carinatum, High palate, Wrist flexion contract...	ORPHA:800
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Camptodactyly of finger, Flexion contracture, Wide mouth, Respiratory failure, ...	ORPHA:1194
Hypophosphatasia, Adult	Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t...	OMIM:146300
Holt-Oram Syndrome	Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absen...	OMIM:142900
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous cleft hard palate, Posteriorly ...	OMIM:192445
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Long clavicles, Pectus excavatum, Limitation of joint mobility, Clubbing, Osteoporosi...	OMIM:259100
Aarskog-Scott Syndrome	Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Cleft upper lip, Pectus excava...	OMIM:305400
Hereditary Methemoglobinemia	Cyanosis, Exertional dyspnea	ORPHA:621
Raine Syndrome	Micromelia, Micrognathia, High palate, Neonatal death, Microdontia, Long hallux, Death in infancy...	OMIM:259775
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Arachnodactyly, Joint hypermobility, Pectus excavatum, Thin metacarpal cortices, Thin...	ORPHA:2463
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Micrognathia, High, narrow palate, Fac...	ORPHA:2780
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C...	ORPHA:2636
Fountain Syndrome	Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Craniofacial hyperost...	ORPHA:3219
Auriculocondylar Syndrome	Respiratory distress, Dental crowding, Hamartoma of tongue, Micrognathia, Narrow mouth, Microglos...	ORPHA:137888
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Pontocerebellar Hypoplasia Type 1	Arthrogryposis multiplex congenita, Respiratory failure, Tongue fasciculations, Congenital laryng...	ORPHA:2254
Sandestig-Stefanova Syndrome	Rocker bottom foot, Orofacial cleft, Respiratory failure, High palate, Camptodactyly, Clinodactyly	OMIM:618804
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Reduced forced vital capacity, Achilles tendon contracture, Recurrent pneumoni...	OMIM:620249
3Q29 Microdeletion Syndrome	Dental crowding, Abnormality of the dentition, Tapered finger, Pectus excavatum, Orofacial cleft,...	ORPHA:65286
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Micrognathia, Pectus excavatum, Joint stiffness, Abnormal thorax morphology, Flexion contracture,...	ORPHA:1979
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Hamamy Syndrome	Osteopenia, Micrognathia, High palate, Clinodactyly of the 5th finger, Long toe, Syndactyly, Tape...	OMIM:611174
Acrootoocular Syndrome	Delayed eruption of teeth, Short metacarpal, Sandal gap, Abnormal finger flexion crease, Grayish ...	ORPHA:2980
Coffin-Siris Syndrome 7	Thin upper lip vermilion, Sagittal craniosynostosis, Pectus excavatum, Thick lower lip vermilion,...	OMIM:618027
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Lamb-Shaffer Syndrome	Dental crowding, Overlapping toe, Long fingers, Pectus carinatum, Clinodactyly, Long hallux, Open...	OMIM:616803
Amish Lethal Microcephaly	Death in infancy, Cleft soft palate, Micrognathia, Limitation of joint mobility, Osteoporosis, De...	ORPHA:99742
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Submucous cleft hard palate, Flexion contracture, Irregular vertebral ...	OMIM:222765
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Pectus excavatum, Achilles tendon contracture, Elbow flexion contracture, Knee flexion contractur...	OMIM:310300
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Joint stiffness, Pectus excavatum, Large iliac wing, Hypoplasia of the odontoid p...	OMIM:253220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Achilles tendon contracture, Macroglossia, Restrictive venti...	OMIM:606612
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Tented upper lip vermilion, Tapered finger, Flexion contracture, Narrow palate, Respiratory failure	OMIM:616505
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Joint laxity, Arachnodactyly, Pectus excavatum, Pectus carinatum, Short philtrum, Camptodactyly, ...	OMIM:301039
Hereditary Motor And Sensory Neuropathy, Type Iic	Down-sloping shoulders, Stridor, Hammertoe, Respiratory failure, Intercostal muscle weakness	OMIM:606071
Macs Syndrome	Joint laxity, Irregular dentition, Micrognathia, Pectus excavatum, Osteoporosis, Gingival overgro...	OMIM:613075
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Arachnodactyly, Dental crowding, Pectus excavatum, Limitation of joint mobility, Osteoporosis, Pe...	OMIM:236200
Pyruvate Dehydrogenase E1-Alpha Deficiency	Apneic episodes precipitated by illness, fatigue, stress, Respiratory failure, Long philtrum	OMIM:312170
Cleft Velum	Velopharyngeal insufficiency, Cleft soft palate, Aspiration pneumonia	ORPHA:99772
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening...	ORPHA:536467
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Thin vermilion border, Short philtrum, Micrognathia	ORPHA:261304
Intellectual Developmental Disorder, Autosomal Dominant 7	Hallux valgus, Thin upper lip vermilion, Micrognathia, Pectus excavatum, Thick lower lip vermilio...	OMIM:614104
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Micrognathia, Pectus excavatum, Dyspnea, Thick lower lip vermilion, Narrow palate, Long philtrum,...	ORPHA:555877
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly	OMIM:614526
Cap Myopathy	Pectus excavatum, Thoracic scoliosis, High palate, Central hypoventilation	ORPHA:171881
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of...	ORPHA:199306
Phosphoribosylaminoimidazole Carboxylase Deficiency	Missing ribs, Esophageal atresia, Tracheoesophageal fistula, Neonatal death, Clinodactyly of the ...	OMIM:619859
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Neonatal respiratory distress, Camptodactyly of finger, Micrognathia, Pectus e...	ORPHA:2990
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Thin bony cortex, Dental crowding, Recurrent fractures, ...	OMIM:309583
Insulin-Like Growth Factor I, Resistance To	Thin upper lip vermilion, Sandal gap, Micrognathia, Pectus excavatum, Small hand, Short foot, Abn...	OMIM:270450
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Cardiofaciocutaneous Syndrome 3	Wide mouth, Pectus excavatum, Reduced bone mineral density	OMIM:615279
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Broad hallux, Clinodactyly of the 2nd toe, Micrognathia, Coxa valga, Short dist...	OMIM:620073
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Metaphyseal dysplasia, Death in infancy, Coxa valga, Pectus excavatum, Narr...	OMIM:617425
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Tented upper lip vermilion, Overlapping toe, Flexion contracture, Pectus ca...	OMIM:619383
Allan-Herndon-Dudley Syndrome	Hallux valgus, Flexion contracture, Pectus excavatum	OMIM:300523
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg...	OMIM:618150
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thin upper lip vermilion, Scapular winging, Dental crowding, Sandal gap, Micrognathia, Tapered fi...	OMIM:617061
Pfeiffer Syndrome Type 3	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrota...	ORPHA:93260
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera...	OMIM:307800
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate	ORPHA:2736
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Tented upper lip vermilion, Apnea, Micrognathia, Deep phil...	ORPHA:314655
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac...	ORPHA:454836
Cardiac-Valvular Ehlers-Danlos Syndrome	Hallux valgus, Dental crowding, Sandal gap, Recurrent shoulder dislocation, Pectus excavatum, Lon...	ORPHA:230851
Acrofacial Dysostosis, Catania Type	Smooth philtrum, Microretrognathia, Finger syndactyly, Abnormality of the dentition, Carious teet...	ORPHA:1786
Ciliary Dyskinesia, Primary, 5	Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat...	OMIM:608647
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Birk-Barel Syndrome	Sacral dimple, Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft pala...	OMIM:612292
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Intestinal malrotation, Arachnodactyly, Sandal gap, Carious teeth, Pectus excava...	OMIM:617602
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo...	ORPHA:157215
Buerger Disease	Acrocyanosis	ORPHA:36258
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Orofacial cleft, Pectus carinatum, Downturned corners o...	ORPHA:1507
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Syndactyly, Abnormality of the dentition, Pectus excavatum, Wide mouth, Thick vermilion border, C...	OMIM:618505
Prune Belly Syndrome	Congenital hip dislocation, Pectus excavatum, Xerostomia, Pectus carinatum, Anal atresia	OMIM:100100
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Malaria	Respiratory distress	ORPHA:673
Scedosporiosis	Bronchial breath sound, Sinusitis, Arthralgia/arthritis, Osteomyelitis, Pneumonia, Abnormal respi...	ORPHA:449280
Axial Mesodermal Dysplasia Spectrum	Micrognathia, Missing ribs, Abnormal rib morphology, Tracheoesophageal fistula, Gingival overgrow...	ORPHA:1834
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Pectus excavatum, Wide anterior fontanel, Micrognathia	OMIM:618272
Craniosynostosis 2	Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Triphalangeal th...	OMIM:604757
Congenital Disorder Of Glycosylation, Type Iia	Osteopenia, Macrodontia, Thoracolumbar kyphoscoliosis, Proximal placement of thumb, Protruding to...	OMIM:212066
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Coxa va...	OMIM:620099
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Congenital hip dislocation, Micrognathia, Pec...	ORPHA:496641
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Arthrogryposis Multiplex Congenita 5	11 pairs of ribs, Death in infancy, Neonatal respiratory distress, Rocker bottom foot, Micrognath...	OMIM:618947
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Cleft upper lip, Pectus excavat...	OMIM:612530
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Joint laxity, Thin upper lip vermilion, Hyperextensibility of the finger joints, Dental crowding,...	OMIM:309520
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short ...	ORPHA:198
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, S...	OMIM:234100
Xp22.13P22.2 Duplication Syndrome	Tapered finger, Pectus excavatum, Small hand, 2-3 toe syndactyly, High palate	ORPHA:284180
Recombinant 8 Syndrome	Camptodactyly of finger, Cleft upper lip, Abnormality of the dentition, Micrognathia, Pectus exca...	ORPHA:96167
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Syndactyly, Brachydactyly, Intestinal malrotation, Velopharyngeal insuf...	OMIM:614701
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Thin upper lip vermilion, Respiratory distress, Micrognathia, Deep philtrum, Dental m...	ORPHA:329178
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Respiratory failure, Nocturnal hypoventilation	OMIM:620326
Loeys-Dietz Syndrome 5	Scapular winging, Tented upper lip vermilion, Arachnodactyly, Cleft soft palate, Eosinophilic inf...	OMIM:615582
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Cleft upper lip, Conical tooth, M...	OMIM:263750
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Bifid uvula, Cleft palate, Micrognathia	OMIM:606164
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Congenital hip dislocation, Dental crowding, Ankle flexion contracture, Microgna...	ORPHA:2020
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Tapered finger, Flexion contracture, Hyperextensibility at wrists, Hip dysp...	ORPHA:544503
Richieri-Costa/Guion-Almeida Syndrome	Pectus excavatum, Abnormal digit morphology, Cleft palate, Cleft upper lip	OMIM:268850
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Occipital Horn Syndrome	Joint laxity, Short humerus, Pelvic bone exostoses, Hiatus hernia, Broad clavicles, Capitate-hama...	OMIM:304150
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Down-sloping shoulders, Micrognathia, Pectus excavatum, Downturned corners of mouth, Oligodontia,...	OMIM:616817
Pulmonary Capillary Hemangiomatosis	Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple...	ORPHA:199241
Ruijs-Aalfs Syndrome	Thoracic kyphoscoliosis, Down-sloping shoulders, Micrognathia, Pectus excavatum, Osteoporosis, El...	OMIM:616200
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Respiratory failure, Paroxysmal dyspnea, Cyanosis	ORPHA:444013
Lethal Acantholytic Erosive Disorder	Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Respiratory failure, Cli...	ORPHA:158687
Fragile X Syndrome	Pectus excavatum, Metacarpophalangeal joint hyperextensibility, Joint laxity	OMIM:300624
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Thin upper lip vermilion, Exaggerated cupid's bow, Intestinal malrotation, Overlapping ...	OMIM:618316
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Thoracic hemivertebrae, Anal...	OMIM:309620
Chromosome 10Q26 Deletion Syndrome	Thin upper lip vermilion, Scapular winging, Congenital hip dislocation, Toe syndactyly, Sandal ga...	OMIM:609625
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Abnormality of the dentition, Pectus excavatum, Deep philtrum...	OMIM:615398
Malan Syndrome	Coxa valga, Pectus excavatum, Long fingers, Gingival overgrowth, Everted lower lip vermilion, Nar...	OMIM:614753
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Camptodactyly of finger, Tachypnea, Respiratory failure, Inspiratory stridor, Ventilator dependen...	OMIM:604320
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox...	OMIM:610978
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Native American Myopathy	Joint laxity, Micrognathia, Cleft palate, Respiratory insufficiency, Downturned corners of mouth,...	ORPHA:168572
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Death in childhood, Progressive alveolar ridge hy...	OMIM:252500
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm...	ORPHA:249
Chromosome 6Pter-P24 Deletion Syndrome	Joint laxity, Broad toe, Tented upper lip vermilion, Dental crowding, Rocker bottom foot, Cleft u...	OMIM:612582
Focal Dermal Hypoplasia	Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anteriorly placed anus, Oligod...	OMIM:305600
Peroxisome Biogenesis Disorder 4A (Zellweger)	Epiphyseal stippling, Respiratory failure, Death in infancy	OMIM:614862
Teebi-Shaltout Syndrome	Syndactyly, Rocker bottom foot, Pectus excavatum, High, narrow palate, Metatarsus adductus, Cleft...	OMIM:272950
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Pectus excavatum, Calcaneovalgus deformity, Joint laxity	OMIM:225320
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Pectus excavatum, Metaphyseal widening, Flexion contracture, Clubbing, Recu...	OMIM:617303
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig...	ORPHA:235
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Humeroradial synostosis, Rib fusio...	OMIM:134780
Congenital Muscular Dystrophy, Fukuyama Type	Pectus excavatum, Flexion contracture, Camptodactyly of finger	ORPHA:272
Frank-Ter Haar Syndrome	Osteopenia, Micrognathia, High palate, Short palm, Short phalanx of finger, Cortical irregularity...	OMIM:249420
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Tented upper lip vermilion, Pectus excavatum, High, narrow palate, A...	ORPHA:488632
Prune Belly Syndrome	Congenital hip dislocation, Intestinal malrotation, Pectus excavatum, Abnormal rib morphology, Vo...	ORPHA:2970
Pericardial And Diaphragmatic Defect	Neonatal respiratory distress, Intestinal malrotation, Pectus excavatum, Hypoxemia, Abnormal ster...	ORPHA:2847
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Respiratory failure	OMIM:619386
Congenital Tracheomalacia	Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co...	ORPHA:95430
Tricuspid Atresia	Cyanosis	ORPHA:1209
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Delayed epiphyseal ossification, Macroglossia, Abnormal epiphysis morpholog...	ORPHA:226313
Alg1-Cdg	Respiratory failure, Limitation of joint mobility, Protein-losing enteropathy	ORPHA:79327
Craniofaciofrontodigital Syndrome	Osteopenia, Joint laxity, Respiratory distress, Pyloric stenosis, Dyspnea, Osteoporosis, Gingival...	ORPHA:363705
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Dyspnea...	OMIM:211530
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Respiratory insufficiency	OMIM:601612
Lethal Congenital Contracture Syndrome 2	Arthrogryposis multiplex congenita, Respiratory failure, Micrognathia	OMIM:607598
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Micrognathia, Short thumb, Hypoplasia of the radius, Fibular hypoplasia, ...	OMIM:227270
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Thin upper lip vermilion, Sandal gap, High, narrow palate, Submucous cleft ...	OMIM:612863
Craniofrontonasal Syndrome	Joint laxity, Toe syndactyly, Broad hallux, Down-sloping shoulders, Abnormality of the dentition,...	OMIM:304110
Cohen Syndrome	Finger syndactyly, Macrodontia, Aplasia/Hypoplasia of the tongue, Arachnodactyly, Abnormality of ...	ORPHA:193
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress	ORPHA:26792
Classical-Like Ehlers-Danlos Syndrome Type 2	Hallux valgus, Osteopenia, Thoracic scoliosis, Long uvula, Arachnodactyly, Sandal gap, Phalangeal...	ORPHA:536532
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Overlapping toe, Pectus excavatum, Cleft lip, Deep philtrum, Cleft palate, Dow...	OMIM:618571
Malan Overgrowth Syndrome	Pectus excavatum, Slender long bone, High palate, Narrow mouth	ORPHA:420179
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Bowing of the long bones, Congenital hip dislocation, Pectus excavatum, High palate, ...	OMIM:612940
Koolen-De Vries Syndrome	Vertebral fusion, Arachnodactyly, Abnormal dental enamel morphology, Abnormality of the dentition...	ORPHA:96169
Myhre Syndrome	Short palm, Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Submucous cleft hard palat...	ORPHA:2588
Myopathy And Diabetes Mellitus	Respiratory distress, Achilles tendon contracture	ORPHA:2596
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Cleft lip, Super...	OMIM:615948
Ehlers-Danlos Syndrome, Classic Type, 1	Hyperextensibility of the finger joints, Joint hypermobility, Pectus excavatum, Osteoarthritis, I...	OMIM:130000
Geleophysic Dysplasia 1	Osteopenia, Camptodactyly of finger, Coxa valga, Pectus excavatum, Joint stiffness, Hypoplasia of...	OMIM:231050
Pulmonary Arteriovenous Malformation	Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri...	ORPHA:2038
Shukla-Vernon Syndrome	Pectus excavatum, Long fingers, Tapered finger	OMIM:301029
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hallux valgus, Thoracic kyphoscoliosis, Reduced forced expiratory volume in one second, Pectus ex...	OMIM:613385
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Thin upper lip vermilion, Diastema, Pectus excavatum, Slender finger, Downturned corners of mouth...	ORPHA:329224
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Death in infancy, Neonatal respiratory distress, Tapered toe, Apnea, Tapered finger, Lo...	OMIM:608836
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Osteomalacia, Coxa valga, Micrognathia, Hiatus hernia, Avascular necrosis of the capi...	ORPHA:1901
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Scapular winging, Neonatal respiratory distress, Limited w...	ORPHA:98915
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia	OMIM:606763
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate, Cleft upper lip	OMIM:179400
Myhre Syndrome	Short philtrum, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Cleft lip, Short toe, 2-3 t...	OMIM:139210
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Respiratory failure, Stillbirth, Tongue fasciculations, Death in childhood, Neo...	OMIM:614922
Glycine Encephalopathy With Normal Serum Glycine	Joint laxity, Hip contracture, Overlapping toe, Apnea, Flexion contracture, Hip dislocation, Elbo...	OMIM:617301
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Thin upper lip vermilion, Joint hypermobility, Pectus excavatum, Downturned corners o...	OMIM:618590
Wiedemann-Steiner Syndrome	Thin upper lip vermilion, Aplasia/Hypoplasia of the ribs, Hyperextensibility at elbow, Rhizomelia...	ORPHA:319182
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Vertebral fusion, Down-sloping shoulders, Pectus excavatum, Metatarsus adductus, Deep...	OMIM:227330
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough	ORPHA:142
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint...	OMIM:603543
Muscular Dystrophy, Duchenne Type	Hypoventilation, Respiratory insufficiency due to muscle weakness, Achilles tendon contracture, F...	OMIM:310200
Distal Deletion 10Q	Thin upper lip vermilion, Scapular winging, Sandal gap, Craniosynostosis, Tapered finger, Microgn...	ORPHA:96148
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Aicardi Syndrome	Intestinal polyposis, Block vertebrae, Hiatus hernia, Cleft upper lip, Malabsorption, Missing rib...	ORPHA:50
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Neonatal death, Respiratory insufficiency	OMIM:245650
Diamond-Blackfan Anemia 10	Respiratory distress, Supernumerary ribs, Cleft palate, Micrognathia	OMIM:613309
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Pectus excavatum, Bilateral cleft lip and palate, High palate, Enamel h...	OMIM:618874
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Micrognathia, Generalized joint laxity, Thoracic kyphosis, Hypermobility of i...	ORPHA:508498
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia, Abnormality of the dentition	OMIM:193100
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metatarsal, Finger clinodacty...	OMIM:617137
Ferguson-Bonni Neurodevelopmental Syndrome	Pectus excavatum, High palate, Micrognathia	OMIM:619699
Robinow Syndrome	Dental crowding, Micrognathia, Orofacial cleft, Fused thoracic vertebrae, Syndactyly, Persistence...	ORPHA:97360
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Pectus excavatum, High palate, Abnormality of the dentition	OMIM:251750
Frontometaphyseal Dysplasia 1	Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Knee flexion contracture, In...	OMIM:305620
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Short palm, Hypoplastic iliac wing, Pectus excavatum, Rectal prolapse,...	OMIM:235510
Camptodactyly, Tall Stature, And Hearing Loss Syndrome	Arachnodactyly, Pectus excavatum, High palate, Camptodactyly, Camptodactyly of toe, Broad femoral...	OMIM:610474
Stüve-Wiedemann Syndrome	Osteopenia, Respiratory distress, Apnea, Micromelia, Metaphyseal widening, Flexion contracture, K...	ORPHA:3206
Arterial Tortuosity Syndrome	Respiratory distress, Arachnodactyly, Rocker bottom foot, Craniosynostosis, Hiatus hernia, Coxa v...	ORPHA:3342
Pulmonary Hypertension, Primary, 3	Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a...	OMIM:615343
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Short neck, Abnormal soft palate morphology,...	ORPHA:884
Congenital Multicore Myopathy With External Ophthalmoplegia	Joint laxity, Tented upper lip vermilion, Pneumonia, Flexion contracture, Abnormal respiratory sy...	ORPHA:98905
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Congenital Myasthenic Syndrome	Microretrognathia, Joint laxity, Congenital hip dislocation, Sudden episodic apnea, Intermittent ...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Microretrognathia, Joint laxity, Congenital hip dislocation, Sudden episodic apnea, Intermittent ...	ORPHA:98914
Leigh Syndrome	Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency	OMIM:256000
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Micrognathia, Cranial hyperostosis, Flared metaphysis, Gingival o...	OMIM:259720
Catel-Manzke Syndrome	Micrognathia, Pectus carinatum, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid ...	OMIM:616145
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Thoracic kyphoscoliosis, Thoracic scoliosis, Pectus excavatum, High, narrow palate, G...	ORPHA:1900
Brachycephaly, Trichomegaly, And Developmental Delay	Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde...	OMIM:617412
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short palm, Dental crowding, Abnormality of the dentition, Micrognathia, Unilateral radial aplasi...	ORPHA:476126
Intellectual Developmental Disorder, Autosomal Dominant 66	Arachnodactyly, Pectus excavatum, Pectus carinatum, Toe clinodactyly, Clinodactyly of the 5th finger	OMIM:619910
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, High...	OMIM:220110
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Sandal gap, Micrognathia, Decreased fibular diameter, Intra-oral hyperpigmentation, P...	OMIM:619127
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay...	OMIM:300554
You-Hoover-Fong Syndrome	Accessory oral frenulum, Pectus excavatum, Cleft palate, Clinodactyly, Brachydactyly	OMIM:616954
Chromosome 2P16.1-P15 Deletion Syndrome	Thin upper lip vermilion, Arachnodactyly, Pectus excavatum, High, narrow palate, Metatarsus adduc...	OMIM:612513
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Fle...	ORPHA:666
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Proximal placement of thumb, Micrognathia, Esophageal atresia, Deep philtru...	OMIM:610536
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Rocker bottom foot, Respiratory distress, Adducted thumb	ORPHA:89844
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Smooth philtrum, Joint laxity, Respiratory distress, Postaxial polydactyly, Abnormality of the de...	OMIM:300968
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Surfactant Metabolism Dysfunction, Pulmonary, 5	Dyspnea, Respiratory insufficiency, Exertional dyspnea	OMIM:614370
Sacral Agenesis With Vertebral Anomalies	Absence of the sacrum, Vertebral clefting, Neonatal death, Abnormal vertebral morphology, Anal at...	OMIM:615709
Noonan Syndrome 7	Joint hypermobility, Pectus excavatum, Pectus carinatum, Shield chest, Thick vermilion border, Ab...	OMIM:613706
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Apnea, Central hypoventilation	OMIM:618233
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Thin upper lip vermilion, Brachydactyly, Micrognathia, Diastema, Pectus excavatum, Flexion contra...	OMIM:300534
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,...	OMIM:618426
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter...	OMIM:605711
Infantile Systemic Hyalinosis	Short palm, Osteopenia, Abnormal dental morphology, Camptodactyly of finger, Micromelia, Malabsor...	ORPHA:2176
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Schilbach-Rott Syndrome	Micrognathia, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger cutaneous syn...	OMIM:164220
Isolated Childhood Apraxia Of Speech	High, narrow palate, Submucous cleft hard palate	ORPHA:209908
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Pectus excavatum, High palate, Cleft palate	ORPHA:488613
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:613561
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Pectus excavatum, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Fus...	OMIM:619227
Amyotrophic Lateral Sclerosis	Dyspnea, Respiratory failure, Xerostomia, Abnormal respiratory system physiology	ORPHA:803
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Camptodactyly of finger, Cleft upper lip, Pect...	ORPHA:261236
Skin Creases, Congenital Symmetric Circumferential, 1	Micrognathia, Pectus excavatum, Narrow mouth, Long fingers, Cleft palate, High palate, Long philtrum	OMIM:156610
Larsen Syndrome	Joint laxity, Vertebral fusion, Short metacarpal, Spatulate thumbs, Cleft upper lip, Pectus excav...	OMIM:150250
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level	ORPHA:70578
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure	ORPHA:352447
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Pectus excavatum, Flexion contracture	OMIM:611588
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, High palate, Inspiratory stridor, Irregular respiration	OMIM:604377
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Vertebral fusion, Overlapping toe, Craniosynostosis, Cle...	OMIM:213980
Lenz-Majewski Hyperostotic Dwarfism	High, narrow palate, Abnormal finger morphology, Symphalangism affecting the phalanges of the han...	ORPHA:2658
Classic Homocystinuria	Arachnodactyly, Dental crowding, Recurrent fractures, Joint stiffness, Pectus excavatum, Pulmonar...	ORPHA:394
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Chronic lung disease, Acute respiratory distress syndrome, Craniosynostosis, Ta...	OMIM:620005
Cutis Laxa, Autosomal Recessive, Type Iiia	Congenital hip dislocation, Pectus excavatum, Hip dislocation, Narrow mouth, Joint hypermobility,...	OMIM:219150
Nipah Virus Disease	Respiratory distress, Cough	ORPHA:99825
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Congenital Heart Block	Pleural effusion, Cyanosis, Crackles	ORPHA:60041
W Syndrome	Hypoplasia of the ulna, Broad uvula, Radial bowing, Metatarsus adductus, Submucous cleft hard pal...	ORPHA:2804
Hyperphosphatasia-Intellectual Disability Syndrome	Tented upper lip vermilion, Aganglionic megacolon, Micrognathia, Pectus excavatum, Shortening of ...	ORPHA:247262
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent...	ORPHA:178303
X-Linked Emery-Dreifuss Muscular Dystrophy	Scapular winging, Joint stiffness, Pectus excavatum, Respiratory insufficiency due to muscle weak...	ORPHA:98863
Buratti-Harel Syndrome	Broad hallux, Velopharyngeal insufficiency, Submucous cleft hard palate, Recurrent pneumonia, Hig...	OMIM:619314
Emery-Dreifuss Muscular Dystrophy	Scapular winging, Joint stiffness, Pectus excavatum, Respiratory insufficiency due to muscle weak...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Scapular winging, Joint stiffness, Pectus excavatum, Respiratory insufficiency due to muscle weak...	ORPHA:98853
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Intestinal malrotation, Productive cough, Wheezing, Clubbing, Bron...	ORPHA:244
Noonan Syndrome 14	Scapular winging, Pectus excavatum, High, narrow palate, Pectus carinatum, Wide mouth, Thick verm...	OMIM:619745
Gaucher Disease, Perinatal Lethal	Respiratory distress, Everted upper lip vermilion, Apnea, Micrognathia, Everted lower lip vermili...	OMIM:608013
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Petechiae	OMIM:602473
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea, Cough	ORPHA:86812
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Submucous cleft hard palate, Bifid uvula, Absent thumb	OMIM:619239
Multiple Acyl-Coa Dehydrogenase Deficiency	Scapular winging, Dyspnea, Wide anterior fontanel, Cardiorespiratory arrest, Restrictive ventilat...	ORPHA:26791
Tibial Muscular Dystrophy	Respiratory failure	ORPHA:609
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure	ORPHA:70472
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Pectus excavatum, Recurrent pneumonia, High palate, Recurrent aspiration pneumonia, Bifid uvula	OMIM:300472
Nail-Patella Syndrome	Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, R...	ORPHA:2614
Hydrolethalus	Micromelia, Micrognathia, Postaxial hand polydactyly, Submucous cleft hard palate, Cleft palate, ...	ORPHA:2189
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Micrognathia, Respiratory insufficiency, Short long bone, N...	OMIM:224410
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Intestinal malrotation, Pectus excavatum, Tachypnea, Esophageal varix, ...	OMIM:613658
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Idiopathic Pulmonary Hemosiderosis	Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough	ORPHA:99931
Acrofrontofacionasal Dysostosis 1	Short metacarpal, Cleft upper lip, Pectus excavatum, Cleft palate, Wide mouth, Oligodontia, Aceta...	OMIM:201180
Microcephaly 30, Primary, Autosomal Recessive	Clinodactyly of the 5th finger, Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate	OMIM:620183
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets, Rachitic rosary	OMIM:612089
Pseudoaminopterin Syndrome	Limited elbow movement, Micrognathia, Orofacial cleft, High palate, Short philtrum, Patchy reduct...	ORPHA:221120
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Apnea	OMIM:261680
20Q11.2 Microduplication Syndrome	Tented upper lip vermilion, Pectus excavatum, Tented philtrum, Gingival overgrowth, Pectus carina...	ORPHA:363659
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Micrognathia, Pectus excavatum, High palate, Short philtrum, Radial deviation of finger, Clinodac...	OMIM:609944
Koolen-De Vries Syndrome	Vertebral fusion, Cleft upper lip, Pectus excavatum, Pyloric stenosis, Hip dislocation, Narrow pa...	OMIM:610443
Xq12-Q13.3 Duplication Syndrome	Pectus excavatum, Cutaneous finger syndactyly, Everted lower lip vermilion, 2-3 toe syndactyly	ORPHA:314389
Snakebite Envenomation	Epistaxis, Respiratory failure, Respiratory paralysis, Gingival bleeding	ORPHA:449285
Immunodeficiency 54	Respiratory failure, Respiratory insufficiency	OMIM:609981
8P Inverted Duplication/Deletion Syndrome	Micrognathia, Pectus excavatum, High, narrow palate, Long fingers, Abnormality of dental eruption...	ORPHA:96092
Tularemia	Respiratory distress, Pneumonia, Oral ulcer, Cough, Pleural effusion	ORPHA:3392
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Tachypnea, Death in childhood	OMIM:615838
Isolated Right Ventricular Hypoplasia	Hypoxemia, Dyspnea, Cyanosis	ORPHA:439
Lateral Meningocele Syndrome	Vertebral fusion, Dental crowding, Joint hypermobility, Micrognathia, Pectus excavatum, Cleft pal...	OMIM:130720
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Epistaxis, Wheezing, Rickets, Fat malabsorption	OMIM:211600
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Pectus excavatum, High palate, Cleft palate	ORPHA:52055
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Craniosynostosis, Pect...	OMIM:616914
19P13.13 Microdeletion Syndrome	Thin upper lip vermilion, Sandal gap, Pectus excavatum, Long fingers, Macroglossia, High palate, ...	ORPHA:357001
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Flexion contracture	OMIM:616733
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Protruding tongue, Flexion contracture, Respiratory insufficiency, Macroglossia,...	ORPHA:258
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Dental crowding, Micrognathia, Pectus excavatum, High, narrow palate, ...	ORPHA:2789
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Aicardi Syndrome	Block vertebrae, Proximal placement of thumb, Hiatus hernia, Cleft upper lip, Missing ribs, Recur...	OMIM:304050
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Pectus excavatum, Abnormal rib mor...	ORPHA:77301
X-Linked Mandibulofacial Dysostosis	Pectus excavatum, Branchial anomaly, High palate, Micrognathia	ORPHA:1131
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Broad hallux, Micrognathia, Tapered finger, Short thumb, Pectus excavatum, Wide mouth, Hip dyspla...	OMIM:620224
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Abnormality of the dentition, Open bite, Mic...	OMIM:115150
Peripartum Cardiomyopathy	Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial...	ORPHA:563
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Arterial Tortuosity Syndrome	Joint laxity, Arachnodactyly, Micrognathia, Hiatus hernia, Pectus excavatum, Flexion contracture,...	OMIM:208050
Ring Chromosome 12 Syndrome	Syndactyly, Pectus excavatum, High, narrow palate, Abnormal 5th finger morphology, Symphalangism ...	ORPHA:1439
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure	OMIM:613954
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Missing ribs, Abnormal...	ORPHA:3186
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Respiratory failure	OMIM:610678
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Mandibular aplasia, Microglossia, Respiratory distress, Narrow mouth	ORPHA:990
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Death in infancy, Micrognathia, Pierre-Robin sequence, Flexion contracture, Ging...	OMIM:300868
Pulmonary Alveolar Microlithiasis	Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum...	ORPHA:60025
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Thickened ribs, Pneumonia, Craniosynostosis, Joint stiffness, Pectus ex...	ORPHA:309282
Trichohepatoneurodevelopmental Syndrome	Joint laxity, Dental crowding, Overlapping toe, Pectus excavatum, Short foot, Hip dysplasia, Hip ...	OMIM:618268
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Pectus excavatum, Furrowed tongue, Hamartomatous polyposis, Hi...	OMIM:615108
Hereditary Angioedema Type 1	Respiratory distress, Tongue edema, Intestinal edema, Abnormal soft palate morphology, Dyspnea, A...	ORPHA:100050
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Pectus excavatum of inferior sternum, Rocker bottom foot, Tapered finge...	OMIM:601353
Noonan Syndrome 4	Pectus excavatum of inferior sternum, Pectus excavatum, Dental malocclusion, Wide mouth, Abnormal...	OMIM:610733
Sepsis In Premature Infants	Cyanosis, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Jaundice, Abnormal respiratory ...	ORPHA:90051
2P15P16.1 Microdeletion Syndrome	Toe clinodactyly, Sandal gap, Camptodactyly of finger, Tapered finger, Pectus excavatum, Narrow m...	ORPHA:261349
Chiari Malformation Type Ii	Cyanosis, Inspiratory stridor	OMIM:207950
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Microretrognathia, Pectus excavatum, Narrow mouth	OMIM:177980
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Microdontia, Bifid uvula, ...	OMIM:613458
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Pectus cari...	ORPHA:3107
Doors Syndrome	Respiratory distress, Short lingual frenulum, Abnormal finger morphology, Downturned corners of m...	ORPHA:79500
X-Linked Intellectual Disability, Snyder Type	Long toe, Dental crowding, Arachnodactyly, Recurrent fractures, Pectus excavatum, Thick lower lip...	ORPHA:3063
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Scapular winging, Joint stiffness, Pectus excavatum, Achilles tendon contracture, Elbow flexion c...	ORPHA:98855
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Neu-Laxova Syndrome	Osteopenia, Abnormality of the philtrum, Osteomalacia, Micromelia, Micrognathia, Submucous cleft ...	ORPHA:2671
Complete Atrioventricular Septal Defect	Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p...	ORPHA:1329
Branchioskeletogenital Syndrome	Amelia involving the lower limbs, Unilateral cleft palate, Thoracolumbar kyphoscoliosis, Abnormal...	ORPHA:1299
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Cleft upper lip, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot...	OMIM:264480
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Sandal gap, Abnormal dental enamel morphology, Pectus excavatum, Abnormal fibula morphology, Clef...	ORPHA:1812
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f...	ORPHA:555874
Au-Kline Syndrome	Overlapping toe, Postaxial polydactyly, Coxa valga, Pectus excavatum, Sagittal craniosynostosis, ...	OMIM:616580
Severe Neurodegenerative Syndrome With Lipodystrophy	Respiratory failure	ORPHA:363400
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Respiratory insufficiency	OMIM:617239
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis	OMIM:620296
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Rickets, Tooth abscess, Bowing of the legs	ORPHA:89937
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Natal tooth, Overlapping toe, Craniosynostosis, Gingival overgrowth, Narrow...	OMIM:123790
Criss-Cross Heart	Cyanosis, Respiratory insufficiency	ORPHA:1461
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Thin upper lip vermilion, Overlapping toe, Micrognathia, Carious teeth, Sma...	ORPHA:177907
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Esophageal atresia, Tracheoesophageal fistula	ORPHA:77298
De Barsy Syndrome	Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Pectus excavatum, Narrow mouth...	ORPHA:2962
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic...	OMIM:615512
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Submucous cleft hard palate, Short distal phalanx of finger	OMIM:609166
Dent Disease 1	Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay...	OMIM:300009
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Aganglionic megacolon, Malabsorption, Pectus excavatum, Reduced bone mineral density, Long fibula...	ORPHA:935
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Pectus excavatum, Furrowed tongue, Hamartomatous polyposis, Hi...	OMIM:615109
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Pectus excavatum	ORPHA:2835
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Thin upper lip vermilion, Hip contracture, Pectus excavatum, Broad distal phalanx of the toes, De...	OMIM:619194
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact...	OMIM:210710
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Micrognath...	OMIM:608670
Mgat2-Cdg	Osteopenia, Respiratory distress, Dental crowding, Pectus excavatum, Open mouth, Brachydactyly	ORPHA:79329
Jacobsen Syndrome	Micrognathia, Pectus excavatum, Pyloric stenosis, Missing ribs, Flexion contracture, Clinodactyly...	OMIM:147791
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Conical tooth, M...	ORPHA:1071
6Q Terminal Deletion Syndrome	Hallux valgus, Aplasia/Hypoplasia of the ribs, Joint laxity, Micrognathia, High, narrow palate, T...	ORPHA:75857
Fraser Syndrome 2	Intestinal malrotation, Short thorax, Rectal atresia, Cutaneous syndactyly, Respiratory failure, ...	OMIM:617666
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Pectus excavatum, Asymmetry of the thorax, Short hard palate, Genu varum	ORPHA:1969
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Pectus ...	OMIM:303600
Tetrasomy 9P	Aplasia/Hypoplasia of the clavicles, Median cleft lip and palate, Dental crowding, Abnormal denta...	ORPHA:3310
Farber Disease	Respiratory distress, Short toe, Flexion contracture, Osteoporosis, Respiratory insufficiency, Ar...	ORPHA:333
Marden-Walker Syndrome	Arachnodactyly, Camptodactyly of finger, Micrognathia, Pectus excavatum, Pyloric stenosis, Metata...	ORPHA:2461
Leopard Syndrome 1	Scapular winging, Limited elbow movement, Missing ribs, Pectus excavatum, Cleft palate, Pectus ca...	OMIM:151100
Osteopetrosis With Renal Tubular Acidosis	Recurrent fractures, Persistence of primary teeth, Abnormality of the dentition, Micrognathia, Pe...	ORPHA:2785
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, Thick vermilion bord...	OMIM:618106
Multiple Endocrine Neoplasia, Type Iib	Colonic diverticula, Joint laxity, Aganglionic megacolon, Pectus excavatum, High, narrow palate, ...	OMIM:162300
Spinocerebellar Ataxia Type 1	Respiratory failure	ORPHA:98755
Schinzel-Giedion Syndrome	Respiratory distress, Abnormal clavicle morphology, Micrognathia, Abnormality of the gingiva, Tib...	ORPHA:798
Clapo Syndrome	Pectus excavatum, Narrow chest, Capillary malformation of the lip, Macrodactyly	ORPHA:168984
Cutis Laxa, Autosomal Recessive, Type Ia	Pectus excavatum, Emphysema, Arachnodactyly, Joint laxity	OMIM:219100
Jacobsen Syndrome	Smooth philtrum, Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Toe clinodactyly, Intes...	ORPHA:2308
Bohring-Opitz Syndrome	Apnea, Micrognathia, Pectus excavatum, Cleft lip, Limitation of joint mobility, Bilateral wrist f...	ORPHA:97297
Marfan Syndrome	Osteopenia, Arthralgia/arthritis, Dental crowding, Arachnodactyly, Protrusio acetabuli, Micrognat...	ORPHA:558
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Allan-Herndon-Dudley Syndrome	Pectus excavatum, Flexion contracture	ORPHA:59
Restrictive Dermopathy 1	Natal tooth, Limb joint contracture, Rocker bottom foot, Micrognathia, Thin clavicles, Wide anter...	OMIM:275210
Noonan Syndrome 6	Pectus excavatum, Abnormal sternum morphology	OMIM:613224
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Craniosynostosis, Cleft palate, Narrow palate, Anteriorly placed anus, Toot...	ORPHA:1555
Primary Dystonia, Dyt4 Type	Respiratory distress, Movement abnormality of the tongue, Open mouth	ORPHA:98805
Hypercholanemia, Familial 1	Fat malabsorption, Rickets, Steatorrhea	OMIM:607748
Mogs-Cdg	Respiratory distress, Hypoventilation, Thoracic scoliosis, Apnea, High palate, Overlapping fingers	ORPHA:79330
Rodrigues Blindness	Ectodermal dysplasia, Nasal flaring	OMIM:268320
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Micrognathia, ...	OMIM:300990
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension, High palate	OMIM:619272
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O...	ORPHA:289176
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Tented upper lip vermilion, Exaggerated cupid's bow, Craniosynostosis, Micrognathia, ...	ORPHA:369837
Arboleda-Tham Syndrome	Respiratory distress, Downturned corners of mouth, Long thorax, Short philtrum, Narrow chest, Rec...	OMIM:616268
Costello Syndrome	Barrel-shaped chest, Hyperextensibility of the finger joints, Limited elbow movement, Micrognathi...	OMIM:218040
Diamond-Blackfan Anemia 1	11 pairs of ribs, Micrognathia, Cleft upper lip, Short thumb, Absent thumb, Hypoplastic ilia, Par...	OMIM:105650
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Pectus excavatum, Generalized joint laxity, High palate, Micrognathia	ORPHA:502423
C Syndrome	Death in infancy, Toe syndactyly, Accessory oral frenulum, Micrognathia, Micromelia, Pectus excav...	ORPHA:1308
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Microretrognathia, Thin upper lip vermilion, Osteopenia, Pectus excavatum, High, narrow palate, P...	OMIM:300966
Galloway-Mowat Syndrome 3	Arachnodactyly, Micrognathia, Hiatus hernia, Pectus excavatum, Hip dislocation, High palate, Narr...	OMIM:617729
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Loeys-Dietz Syndrome	Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Micrognathia, Pectus excavatum, Orofac...	ORPHA:60030
Chromosome 15Q25 Deletion Syndrome	Tented upper lip vermilion, Cleft upper lip, Pectus excavatum, Long fingers, Cleft palate, Thin v...	OMIM:614294
Meier-Gorlin Syndrome 5	Micrognathia, Irregular femoral epiphysis, Submucous cleft hard palate, Patellar aplasia, Hypopla...	OMIM:613805
Oculocerebrorenal Syndrome Of Lowe	Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, Death in infancy, Abnorm...	ORPHA:534
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea, Respiratory insufficiency	ORPHA:159
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primar...	ORPHA:438216
Monosomy 18Q	Arachnodactyly, Tapered finger, Pectus excavatum, Downturned corners of mouth, Wide mouth, Thick ...	ORPHA:1600
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Flexion contracture	OMIM:618201
Congenital Fibrinogen Deficiency	Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage	ORPHA:335
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cyanotic episode	ORPHA:284417
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,...	ORPHA:99103
Congenitally Uncorrected Transposition Of The Great Arteries	Hypoxemia, Tachypnea, Cyanosis	ORPHA:860
Nephronophthisis 2	Respiratory failure, Respiratory insufficiency	OMIM:602088
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Pectus excavatum, Syndactyly, Congenital hip dislocation, High palate	OMIM:104350
Microphthalmia, Syndromic 3	Vertebral fusion, Missing ribs, Esophageal atresia, Rib fusion, Supernumerary ribs, Vertebral hyp...	OMIM:206900
Cardiofaciocutaneous Syndrome 4	Pectus excavatum, Joint laxity	OMIM:615280
Simpson-Golabi-Behmel Syndrome	Finger syndactyly, Vertebral fusion, Congenital hip dislocation, Toe syndactyly, Camptodactyly of...	ORPHA:373
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Thin upper lip vermilion, Micrognathia, Pectus excavatum, Wide anterior fontanel, Downturned corn...	OMIM:618548
Noonan Syndrome 2	Micrognathia, Pectus excavatum, Pectus carinatum, Shield chest, Abnormal sternum morphology, High...	OMIM:605275
Elsahy-Waters Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Anal stenosis, Brachydactyly, Pectus excavat...	OMIM:211380
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Pachyonychia Congenita	Respiratory distress, Natal tooth, Angular cheilitis, Advanced eruption of teeth, Oral leukoplakia	ORPHA:2309
Atrial Septal Defect, Ostium Primum Type	Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona...	ORPHA:99106
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Barrel-shaped chest, Respiratory distress, Joint stiffness, Flexion contracture, Pectus carinatum...	ORPHA:505248
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Joint laxity, Broad hallux, Arachnodactyly, Pectus excavatum, Dental malocclusion, High palate, S...	OMIM:601552
Cowden Syndrome 1	Colonic diverticula, Micrognathia, Pectus excavatum, Furrowed tongue, Hamartomatous polyposis, Hi...	OMIM:158350
Developmental And Speech Delay Due To Sox5 Deficiency	Exaggerated median tongue furrow, Thoracic kyphoscoliosis, Vertebral fusion, Dental crowding, 2-3...	ORPHA:313892
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte...	ORPHA:99104
Esophageal Atresia	Respiratory distress, Barrett esophagus, Intestinal malrotation, Cleft lip, Pyloric stenosis, Lar...	ORPHA:1199
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Thin upper lip vermilion, Joint hypermobility, Craniosynostosis, Pectus excavatum, Deep philtrum,...	OMIM:617506
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Short neck, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, Wide...	OMIM:619950
D-Bifunctional Protein Deficiency	Osteopenia, Micrognathia, Pectus excavatum, Split hand, Hammertoe, High palate, Long philtrum, Th...	OMIM:261515
8Q24.3 Microdeletion Syndrome	Branchial cyst, Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Micromelia,...	ORPHA:508488
Myopathy, Mitochondrial, And Ataxia	Pectus excavatum, High palate, Micrognathia	OMIM:617675
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Flexion contracture, Esophageal varix, Respiratory insufficiency	ORPHA:367
Desmosterolosis	Increased bone mineral density, Intestinal malrotation, Micromelia, Micrognathia, Metatarsus addu...	ORPHA:35107
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure	ORPHA:542323
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Thin upper lip vermilion, Brachydactyly, Overlapping toe, Craniosynostosis, Micrognathia, Tapered...	OMIM:309590
Rubinstein-Taybi Syndrome 1	Respiratory distress, Dental crowding, Micrognathia, High, narrow palate, Flexion contracture, Hi...	OMIM:180849
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Cleft soft palate, Micrognathia, Hypoxemia, Submucous cleft soft palate, Pulmonary arterial hyper...	ORPHA:2282
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Submucous cleft hard palate, Bifid uvula, Butterfly vertebrae	OMIM:617660
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ...	OMIM:607625
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Bradypnea, Respiratory failure, Death in childhood	OMIM:617186
Aortic Aneurysm, Familial Thoracic 10	Joint laxity, Dental crowding, Pectus excavatum, High palate, Joint hypermobility	OMIM:617168
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Neonatal death, Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters	OMIM:619817
Floating-Harbor Syndrome	Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, Clinodactyly...	OMIM:136140
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Death in childhood, Death in adolescence, Osteoporosis, Rickets	OMIM:560000
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Cleft hard palate, Cleft lip, 3-4 finger cutaneous syndactyly, Cleft ...	ORPHA:69085
Craniorachischisis	Bifid sternum, Anal atresia	ORPHA:63260
Loeys-Dietz Syndrome 2	Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the e...	OMIM:610168
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Jaundice, Neonatal death	OMIM:231680
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Broad 2nd toe, Pectus excavatum, Cleft lip, Clinodactyly, Thick lower ...	OMIM:280000
Intellectual Developmental Disorder, Autosomal Dominant 42	Tapered finger, Pectus excavatum, Asthma, Cleft palate, Stridor, High palate, Short philtrum, Lim...	OMIM:616973
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Flexion contra...	ORPHA:365
Hsd10 Disease, Infantile Type	Cyanosis	ORPHA:391428
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Prominent fingertip pads, M...	OMIM:615873
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Long clavicles, Arachnodactyly, Overlapping toe, Micrognathia, Pyloric sten...	ORPHA:83617
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency	OMIM:613845
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai...	ORPHA:209905
Waardenburg Syndrome Type 3	Tracheomalacia, Acrocyanosis	ORPHA:896
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Pectus excavatum, Tachypnea, Respiratory insufficiency, Respiratory failure, Death in childhood	OMIM:618278
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o...	OMIM:268305
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress	ORPHA:79312
Menkes Disease	Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Micrognathia, Ma...	ORPHA:565
Noonan Syndrome	Micrognathia, Pectus excavatum, Thick lower lip vermilion, Pectus carinatum, Enlarged thorax, Rad...	ORPHA:648
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Death in childhood	OMIM:619847
Oromandibular Dystonia	Respiratory distress, Abnormal lip morphology	ORPHA:93958
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Abnormal large intestine morphology, Micrognathia, Pectus excavatum, Narrow...	ORPHA:109
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Respiratory failure, Osteopetrosis	ORPHA:3240
Ayme-Gripp Syndrome	Smooth philtrum, Thin upper lip vermilion, Brachydactyly, Abnormality of the dentition, Tapered f...	OMIM:601088
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Thin upper lip vermilion, Joint laxity, Arachnodactyly, Intestinal malrotation...	OMIM:601776
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th...	ORPHA:2753
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Neonatal respiratory distress, Micrognathia, 2-3 toe syndact...	OMIM:620025
7Q11.23 Microduplication Syndrome	Thin upper lip vermilion, Short lingual frenulum, Craniosynostosis, Micrognathia, Diastema, Long ...	ORPHA:96121
Bilateral Perisylvian Polymicrogyria	Apnea, Micrognathia, Pectus excavatum, Protruding tongue, Flexion contracture, Distal arthrogrypo...	ORPHA:98889
Neurofaciodigitorenal Syndrome	Abnormality of the philtrum, Abnormal oral mucosa morphology, Abnormal distal phalanx morphology ...	ORPHA:2673
Wrinkly Skin Syndrome	Delayed eruption of teeth, Microretrognathia, Scapular winging, Congenital hip dislocation, Osteo...	OMIM:278250
Deafness-Lymphedema-Leukemia Syndrome	Respiratory failure	ORPHA:3226
Double Outlet Right Ventricle	Tachypnea, Cyanosis	ORPHA:3426
Marfan Syndrome	Dental crowding, Arachnodactyly, Protrusio acetabuli, Equinus calcaneus, Micrognathia, Pectus exc...	OMIM:154700
Tetanus	Respiratory distress, Stiff neck, Tachypnea	ORPHA:3299
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hyperextensibility at elbow, Arachnodactyly, Joint hypermobility, Sagittal craniosynostosis, Abse...	ORPHA:500150
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure, Abnormality of the dentition	ORPHA:88618
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Apnea	OMIM:619580
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Dravet Syndrome	Cyanotic episode	ORPHA:33069
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Pyloric stenosis, Wide anterior fontanel, S...	ORPHA:457279
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Short philtrum, Cleft soft palate, Smooth philtrum, Adducted thumb	ORPHA:293725
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Pectus excavatum, Flexion contracture, Bone cyst, Osteolysis, Narrow chest, Narr...	ORPHA:3042
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Protrusio acetabuli...	ORPHA:284984
Noonan Syndrome 10	Pectus excavatum, Pleural effusion, High palate, Pectus carinatum	OMIM:616564
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Pneumonia	ORPHA:1867
Skin Creases, Congenital Symmetric Circumferential, 2	Short palm, Thin upper lip vermilion, Micrognathia, Carious teeth, Tapered finger, Long fingers, ...	OMIM:616734
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Congenital hip dislocation, Arachnodactyly, Micrognathia, Pectus excavatum, Hip dislo...	ORPHA:536545
Ogden Syndrome	Congenital hip dislocation, Apnea, Micrognathia, Deep philtrum, Short philtrum, High palate, Clin...	OMIM:300855
Viss Syndrome	Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, Pectus carinatum,...	OMIM:619472
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Camptodactyly of finger, Pectus excavatum, High, narrow palate, Ulnar deviation of finger, Long p...	ORPHA:1101
Boutonneuse Fever	Respiratory failure	ORPHA:83313
Mitochondrial Trifunctional Protein Deficiency	Respiratory failure, Respiratory insufficiency, Equinus calcaneus	ORPHA:746
Adnp Syndrome	Joint laxity, Thin upper lip vermilion, Respiratory distress, Broad hallux, Sandal gap, Abnormal ...	ORPHA:404448
Chilton-Okur-Chung Neurodevelopmental Syndrome	Short fourth metatarsal, Micrognathia, Widely spaced teeth, Short philtrum, Tapered finger, Agene...	OMIM:619841
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Joint laxity, Pectus excavatum, Deep philtrum, Thick vermilion border, Chylothorax, Finger joint ...	OMIM:613563
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Tapered finger, Submucous cleft hard palate, Downturned corners of mout...	OMIM:619680
Renpenning Syndrome 1	Thin upper lip vermilion, Macrodontia, Micrognathia, Pectus excavatum, Cleft palate, Death in chi...	OMIM:309500
Fraser Syndrome 1	Abnormal small intestine morphology, Aplasia/Hypoplasia of the thumb, Dental crowding, Aplasia/Hy...	OMIM:219000
Noonan Syndrome 3	Sagittal craniosynostosis, Pectus excavatum, Pectus carinatum, Shield chest, High palate, Left un...	OMIM:609942
Zttk Syndrome	Craniosynostosis, Abnormality of the dentition, Kyphosis, Narrow mouth, Submucous cleft hard pala...	OMIM:617140
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Erosion of oral mucosa, Abnormal oral mucosa morphology, Abnormal fingertip...	ORPHA:79404
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis	OMIM:614407
Holoprosencephaly 13, X-Linked	Median cleft lip, Vertebral clefting, Submucous cleft hard palate, Cleft palate, Solitary median ...	OMIM:301043
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Respiratory distress, Congenital hip dislocation, Abnormal periodontium morphology, H...	ORPHA:480880
1Q41Q42 Microdeletion Syndrome	Submucous cleft hard palate, Thick vermilion border, Cleft palate	ORPHA:250999
Carpenter Syndrome 2	High, narrow palate, Preaxial polydactyly, Coxa vara, Pectus carinatum, Knee flexion contracture,...	OMIM:614976
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Respiratory failure, Limb joint contracture	OMIM:620327
Cardiofaciocutaneous Syndrome	Abnormal morphology of ulna, Pectus excavatum, Submucous cleft hard palate, Genu valgum, High pal...	ORPHA:1340
Coccidioidomycosis	Respiratory distress, Osteomyelitis, Pneumonia, Cough, Osteolysis, Abnormal long bone morphology,...	ORPHA:228123
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Pneumonia, Episodic tachypnea, Jaundice, Tachypnea	ORPHA:26793
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest	OMIM:617248
Infantile Krabbe Disease	Respiratory distress, Respiratory failure	ORPHA:206436
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Rhizomelia, Micrognathia, Flexion contracture, Recurrent pneumonia	OMIM:616271
Isolated Atp Synthase Deficiency	Respiratory distress	ORPHA:254913
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Peters-Plus Syndrome	Short lingual frenulum, Proximal placement of thumb, Micrognathia, Limited elbow movement, Short ...	OMIM:261540
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Postaxial polydactyly, Pectus excavatum, Hip dysplasia, Clinodactyly of the 5th fin...	ORPHA:457284
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory failure, Respiratory insufficiency	OMIM:609015
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:274150
Hyperimmunoglobulinemia D With Periodic Fever	Urticaria, Erythema, Acrocyanosis, Purpura	ORPHA:343
Ethylene Glycol Poisoning	Tachypnea, Episodic respiratory distress, Cyanosis, Abnormal pattern of respiration	ORPHA:31826
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor	OMIM:615595
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood	OMIM:610505
Eosinophilic Granulomatosis With Polyangiitis	Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Urticaria, Cough, Acrocyanosis, Pu...	ORPHA:183
Absence Of The Pulmonary Artery	Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni...	ORPHA:980
Noonan Syndrome 1	Pectus excavatum of inferior sternum, Micrognathia, High, narrow palate, Dental malocclusion, Cle...	OMIM:163950
Poliomyelitis	Paralytic ileus, Respiratory failure requiring assisted ventilation, Respiratory failure, Stiff neck	ORPHA:2912
Wrinkly Skin Syndrome	Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Carious teeth, Pectus excavatu...	ORPHA:2834
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis	ORPHA:3304
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Miscarriage, Nail bed te...	OMIM:187300
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Dental crowding, Internally rotated shoulders, Apnea, Mi...	OMIM:619503
Myotonic Dystrophy 1	Respiratory distress	OMIM:160900
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Short tibia, Pneumothorax, Short femur	OMIM:620306
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction	ORPHA:141127
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Submucous cleft hard palate, Thick lower lip vermilion, Wide mouth, Unilateral cleft lip, Unilate...	OMIM:619103
Trichorhinophalangeal Syndrome, Type Ii	Osteopenia, Chronic gastritis, Micrognathia, Deep philtrum, Rib exostoses, Clinodactyly of the 5t...	OMIM:150230
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Rickets	OMIM:613388
Cutis Laxa, Autosomal Recessive, Type Ib	Arachnodactyly, Micrognathia, Pectus excavatum, High palate, Emphysema, Joint hypermobility	OMIM:614437
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Micrognathia, Widely spaced teeth, High palate, Prominent fingertip pads, Microdontia, Clinodacty...	OMIM:612474
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Brachydactyly, Camptodactyly of finger, Cleft upper lip, Metatarsus adductus, W...	OMIM:607872
3-Methylglutaconic Aciduria Type 7	Respiratory failure, Pneumothorax	ORPHA:445038
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Pectus excavatum, Short toe, Orofacial cleft, Thin vermilion border, Everted l...	ORPHA:1519
Bloom Syndrome	Pneumonia, Micrognathia, Esophageal neoplasm, Chronic pulmonary obstruction, Cheilitis, Respirato...	ORPHA:125
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Floating-Harbor Syndrome	11 pairs of ribs, Short metacarpal, Brachydactyly, Persistence of primary teeth, Celiac disease, ...	ORPHA:2044
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Joint laxity, Hallux valgus, Dental crowding, Kyphoscoliosis, Kyphosis, High, narrow palate, Wide...	OMIM:300967
Restrictive Dermopathy	Osteopenia, Natal tooth, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple j...	ORPHA:1662
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Riddle Syndrome	Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Arthritis, Restrictive ventilatory defect, Res...	ORPHA:420741
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Spontaneous pneumothorax, Repeated pneumothoraces, Pectus excavatum, Emphysema, ...	OMIM:130050
Lymphangiectasia, Pulmonary, Congenital	Pectus excavatum, Pleural effusion, Chylothorax	OMIM:265300
Fibromuscular Dysplasia, Multifocal	Dental crowding, Micrognathia, Pectus excavatum, Hiatus hernia, High palate, Joint hypermobility	OMIM:619329
Diamond-Blackfan Anemia	Cleft soft palate, Micrognathia, Absent thumb, Cleft lip, Short thumb, Partial duplication of thu...	ORPHA:124
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowin...	ORPHA:1652
Cornelia De Lange Syndrome	Micromelia, Micrognathia, Proximal placement of thumb, Downturned corners of mouth, Widely spaced...	ORPHA:199
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Short humerus, Short femur, Apnea, Flexion contracture, Orofacial cleft, Po...	ORPHA:17
Lymphatic Malformation 6	Micrognathia, Pectus excavatum, Intestinal lymphangiectasia, Chylothorax, Pleural effusion	OMIM:616843
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Atlantoaxial instability, Cleft soft palate, Kyphoscoliosis	OMIM:614557
Meckel Syndrome 14	Cyanosis, Pneumothorax, Cardiorespiratory arrest	OMIM:619879
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Pleural effusion, Cyanosis, Apnea	OMIM:261740
Malignant Atrophic Papulosis	Intestinal perforation, Intestinal fistula, Pleural effusion, Respiratory failure	ORPHA:679
Aicardi-Goutieres Syndrome 1	Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta...	OMIM:610655
Nocardiosis	Respiratory distress, Osteomyelitis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, P...	ORPHA:31204
Ramos-Arroyo Syndrome	Respiratory distress, Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Narrow mou...	ORPHA:1051
Nijmegen Breakage Syndrome	Anal stenosis, Deep philtrum, Non-midline cleft lip, Recurrent pneumonia, Cleft palate, Respirato...	ORPHA:647
Congenital Heart Defects, Multiple Types, 9	Pectus excavatum, Miscarriage	OMIM:620294
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Respiratory distress, Irregular iliac...	ORPHA:99646
Leigh Syndrome	Respiratory failure, Multiple joint contractures, Abnormal pattern of respiration	ORPHA:506
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Respiratory insufficiency	OMIM:618329
Mccune-Albright Syndrome	Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Dental malocclusion, Abnormal ...	ORPHA:562
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure	OMIM:252010
Treacher Collins Syndrome 1	Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Nar...	OMIM:154500
Walker-Warburg Syndrome	Metatarsus valgus, Submucous cleft hard palate, Bifid uvula, Cleft palate	ORPHA:899
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Cleft soft palate, Tapered finger, Abnormal toe morphology, Pyloric stenosis, Supe...	ORPHA:268261
Myasthenia Gravis	Dyspnea, Acrocyanosis	ORPHA:589
Celiac Disease, Susceptibility To, 1	Celiac disease, Osteoporosis, Rickets, Recurrent aphthous stomatitis, Steatorrhea, Stomatitis, En...	OMIM:212750
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Pectus excavatum, Pyl...	ORPHA:464306
Cowden Syndrome	Pectus excavatum, Bone cyst, Furrowed tongue, Hamartomatous polyposis, Macroglossia, Colorectal p...	ORPHA:201
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, D...	ORPHA:210122
Pallister-Killian Syndrome	Tented upper lip vermilion, Congenital hip dislocation, Micrognathia, Flexion contracture, Anteri...	OMIM:601803
Neuroocular Syndrome	Hyperextensibility of the finger joints, Scapular winging, Tapered finger, Pectus excavatum, Shor...	OMIM:619539
Double Outlet Left Ventricle	Tachypnea, Cyanosis	ORPHA:3427
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth...	OMIM:305100
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax	OMIM:617300
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Aspiration, Wrist flexion contracture, Knee flexion contracture	OMIM:618733
Listeriosis	Respiratory distress, Stiff neck, Osteomyelitis, Pneumonia, Miscarriage, Respiratory failure, Sep...	ORPHA:533
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress	OMIM:251000
Bacterial Toxic-Shock Syndrome	Respiratory distress, Osteomyelitis, Sinusitis, Pneumonia, Tachypnea, Arthritis, Septic arthritis	ORPHA:36234
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis	ORPHA:488627
1P36 Deletion Syndrome	11 pairs of ribs, Brachydactyly, Camptodactyly of finger, Joint stiffness, Pyloric stenosis, Narr...	ORPHA:1606
Cryptococcosis	Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Osteolysis, Cough, Pleural effusion	ORPHA:1546
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Respiratory distress, Swelling of proximal interphalangeal joints, Malabsorption, ...	ORPHA:3260
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Micrognathia, Pectus excavatum, Abnormal tibia morphology, Bone cyst, Genu valgum, Thi...	ORPHA:363700
Koolen-De Vries Syndrome Due To A Point Mutation	Joint laxity, Anomaly of lower limb diaphyses, Abnormal dental morphology, Arachnodactyly, Trache...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint laxity, Anomaly of lower limb diaphyses, Abnormal dental morphology, Arachnodactyly, Trache...	ORPHA:363958
Cystinosis	Rickets, Malabsorption	ORPHA:213
Coffin-Siris Syndrome 12	Joint laxity, Micrognathia, Celiac disease, Short thumb, Velopharyngeal insufficiency, Submucous ...	OMIM:619325
Bile Acid Synthesis Defect, Congenital, 1	Fat malabsorption, Rickets, Steatorrhea	OMIM:607765
Noonan Syndrome With Multiple Lentigines	Pectus excavatum, Scapular winging, Sprengel anomaly, Pectus carinatum	ORPHA:500
Microphthalmia, Syndromic 1	Dental crowding, High, narrow palate, Rectal prolapse, Orofacial cleft, High palate, Narrow chest...	OMIM:309800
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy, Jaundice	OMIM:617156
Yunis-Varon Syndrome	Congenital hip dislocation, Micrognathia, Short metatarsal, Short philtrum, High palate, Absent h...	OMIM:216340
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets	OMIM:611590
Neurofibromatosis-Noonan Syndrome	Pectus excavatum, Pectus excavatum of inferior sternum, Thick vermilion border, Superior pectus c...	OMIM:601321
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Tapered finger, Pectus excavatum, Short toe, Short foot, Flexion contr...	ORPHA:464311
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,...	OMIM:600376
Aortic Arch Interruption	Respiratory distress, Tachypnea, Cyanosis, Exertional dyspnea	ORPHA:2299
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Cyanosis	OMIM:617478
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Micrognathia, Carious teeth, Velopharyngeal insufficiency,...	OMIM:223370
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Nonproductive cough, Rhinitis, Ecchymosis, Purpura	ORPHA:319213
Hardikar Syndrome	Thoracolumbar scoliosis, Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal va...	OMIM:301068
Poems Syndrome	Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter...	ORPHA:2905
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Primrose Syndrome	Hip contracture, Joint hypermobility, Metatarsus adductus, Pectus excavatum, Thick lower lip verm...	OMIM:259050
Goodpasture Syndrome	Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ...	OMIM:233450
Congenital Bile Acid Synthesis Defect Type 2	Fat malabsorption, Rickets, Steatorrhea	ORPHA:79303
Japanese Encephalitis	Respiratory distress, Stiff neck, Elbow flexion contracture, Respiratory paralysis, Abnormal patt...	ORPHA:79139
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Abnormal dental enamel morphology, Micrognathia, Dyspnea, Respiratory failu...	ORPHA:2556
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Respiratory acidosis, Narrow chest, Narrow m...	OMIM:614748
Fanconi-Bickel Syndrome	Osteopenia, Bowing of the long bones, Rickets	ORPHA:2088
Oeis Complex	11 pairs of ribs, Absence of the sacrum, Congenital hip dislocation, Intestinal malrotation, Ante...	OMIM:258040
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ...	ORPHA:79138
Kasabach-Merritt Syndrome	Respiratory distress, Petechiae, Hypopnea, Purpura	ORPHA:2330
Abetalipoproteinemia	Osteopenia, Fat malabsorption, Respiratory failure, Steatorrhea	ORPHA:14
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Cleft soft palate, Flexion contracture, Genu valgum, Downturned corners o...	OMIM:619321
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Small hand, Osteoporosis, Short foot, Open mouth	OMIM:615273
Kallmann Syndrome-Heart Disease Syndrome	Cyanosis	ORPHA:2326
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion	ORPHA:340
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Osteomyelitis, Gastritis, Pneumonia, Malabsorption, Ileus, Interstitial pne...	ORPHA:37042
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Exaggerated cupid's bow, Downturned corners of mouth, Aspiration	ORPHA:2131
Williams Syndrome	Osteopenia, Micrognathia, Rectal prolapse, Microdontia, Clinodactyly of the 5th finger, Joint lax...	ORPHA:904
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis	ORPHA:268943
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit...	ORPHA:2250
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea	ORPHA:99050
Histiocytoid Cardiomyopathy	Tachypnea, Cyanosis, Cough	ORPHA:137675
Fucosidosis	Acrocyanosis, Vascular skin abnormality	ORPHA:349
Biotinidase Deficiency	Respiratory distress, Apnea, Hyperventilation	ORPHA:79241
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Asthma, Nasal flaring, Downturned corners of mouth, Wide mouth, Short p...	ORPHA:466943
Cocaine Intoxication	Respiratory distress, Intestinal perforation, Wheezing, Tachypnea, Pneumothorax, Colitis, Cough, ...	ORPHA:90068
Velocardiofacial Syndrome	Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, O...	OMIM:192430
Congenital Disorder Of Glycosylation, Type Iiw	Micrognathia, Pectus excavatum, Supernumerary tooth, Osteoporosis, Pectus carinatum, Narrow chest...	OMIM:619525
Toxic Epidermal Necrolysis	Respiratory distress, Malabsorption, Intestinal perforation, Tracheoesophageal fistula, Restricti...	ORPHA:537
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Broad hallux, Sandal gap, Persistence of primary teeth, Supernumerary ...	OMIM:300166
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary embolism, Stomatitis, Pulmonary arterial hypertension, Glossitis,...	ORPHA:79282
Tolchin-Le Caignec Syndrome	Arachnodactyly, Micrognathia, Submucous cleft hard palate, High palate, Narrow mouth, Clinodactyl...	OMIM:618971
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Spontaneous pneumothorax, Micrognathia, Recurrent pneumonia, Esophageal varix, R...	ORPHA:731
Q Fever	Respiratory distress, Pneumonia, Cough, Pleural effusion, Purpura	ORPHA:781
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Death in childhood	OMIM:618252
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, High, narrow palate, Abnormality of the gingiva, Osteoarthritis, Ging...	ORPHA:286
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion contracture, Pectus carinat...	ORPHA:261537
45,X/46,Xy Mixed Gonadal Dysgenesis	Hallux valgus, Micrognathia, Pectus excavatum, Short metatarsal, High palate, Short 4th metacarpal	ORPHA:1772
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Hypoplastic vertebral bodies, Downturned corners of mouth, Short philtrum, Premature ...	ORPHA:3455
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Acrocyanosis, Decreased sensitivity to hypoxemia	OMIM:223900
Cardiac Valvular Dysplasia 2	Central cyanosis	OMIM:620067
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Posteri...	OMIM:306955
Distal Renal Tubular Acidosis	Osteomalacia, Respiratory insufficiency due to muscle weakness, Rickets, Increased susceptibility...	ORPHA:18
Mowat-Wilson Syndrome	Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion contracture, Pectus carinat...	ORPHA:2152
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Spontaneous, recurrent epistaxis, Pectus excavatum, Esophageal varix, Gastric ulce...	ORPHA:2072
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Rickets, Osteoporosis, Colitis, Steatorrhea	ORPHA:309031
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Tented upper lip vermilion, Intestinal pseudo...	ORPHA:273
Fanconi-Bickel Syndrome	Rickets, Osteomalacia, Malabsorption	OMIM:227810
Waardenburg Syndrome, Type 2E	Pectus excavatum	OMIM:611584
Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb	Pectus excavatum, Bone cyst, Joint hypermobility	OMIM:613675
Williams-Beuren Syndrome	Colonic diverticula, Hallux valgus, Osteopenia, Joint laxity, Down-sloping shoulders, Celiac dise...	OMIM:194050
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Cervical ribs, Intestinal malrotation	ORPHA:2255
Eisenmenger Syndrome	Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul...	ORPHA:97214
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Pectus excavatum, Pyloric stenosis, Submucous c...	OMIM:235730
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:256810
Heterotaxy, Visceral, 7, Autosomal	Cyanosis	OMIM:616749
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Joint hyperflexibility, Bifid...	ORPHA:3047
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion contracture, Pectus carinat...	ORPHA:261552
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Cardiorespiratory arrest	ORPHA:293987
Pitt-Hopkins Syndrome	Acrocyanosis, Abnormal pattern of respiration, Hyperventilation	ORPHA:2896
Cystinosis, Nephropathic	Metaphyseal widening, Rickets, Genu valgum, Hypophosphatemic rickets, Rachitic rosary	OMIM:219800
Cardiac Diverticulum	Aplasia/Hypoplasia of the sternum	ORPHA:1686
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets	OMIM:616026
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Osteomalacia, Hip dislocation, Rickets, Genu valgum, Finger swelling, Pa...	OMIM:309000
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Scimitar Syndrome	Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough	ORPHA:185
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia, Peptic ulcer	OMIM:600740
Mitochondrial Dna-Associated Leigh Syndrome	Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation	ORPHA:255210
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Pulmonary arterial hyper...	ORPHA:740
Wilson Disease	Osteomalacia, Osteoarthritis, Esophageal varix, Osteoporosis, Joint hypermobility	OMIM:277900
Generalized Arterial Calcification Of Infancy	Respiratory distress, Osteomalacia, Stippled calcification of the shoulder, Abnormal calcificatio...	ORPHA:51608
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy...	ORPHA:99125
Neurofibromatosis, Type I	Pectus excavatum, Tibial pseudarthrosis, Genu valgum	OMIM:162200
Dermatomyositis	Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Pulmonary arterial...	ORPHA:221
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Chronic lung disease, P...	ORPHA:95455
Tuberous Sclerosis Complex	Respiratory distress, Respiratory failure	ORPHA:805
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	11 pairs of ribs	OMIM:615287
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Submucous cleft hard palate, Flexion contracture	OMIM:618891
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Osteomyelitis, Duodenal ulcer, Gastritis, Osteomalacia, Pneumonia, Oral ulcer, B...	OMIM:619381
Sotos Syndrome	Joint laxity, Hip contracture, Aganglionic megacolon, Ankle flexion contracture, Abnormality of t...	ORPHA:821
Familial Dysautonomia	Acrocyanosis	ORPHA:1764
Niemann-Pick Disease Type C	Respiratory failure, Respiratory insufficiency, Aspiration pneumonia	ORPHA:646
Hyperoxaluria, Primary, Type I	Acrocyanosis, Cutis marmorata	OMIM:259900
Holoprosencephaly 2	Submucous cleft hard palate, Bilateral cleft lip and palate, Scoliosis, Solitary median maxillary...	OMIM:157170
Plague	Respiratory distress, Chapped lip, Enterocolitis, Acute infectious pneumonia, Arthritis, Inflamma...	ORPHA:707
Postinfectious Vasculitis	Palpable purpura, Cutis marmorata, Pneumonia, Vasculitis in the skin, Acrocyanosis	ORPHA:48435
Truncus Arteriosus	Tachypnea, Cyanosis	ORPHA:3384
Leptospirosis	Respiratory distress, Pleural effusion, Jaundice, Cough	ORPHA:509
Gitelman Syndrome	Respiratory distress, Gout	ORPHA:358
Primary Hyperoxaluria	Acrocyanosis, Cutis marmorata	ORPHA:416
Aicardi-Goutières Syndrome	Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice	ORPHA:51
Infantile Nephropathic Cystinosis	Rickets	ORPHA:411629
Cardiac Valvular Dysplasia 1	Cyanosis	OMIM:212093
Classical Ehlers-Danlos Syndrome	Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising...	ORPHA:287
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures	ORPHA:3337
Familial Hypocalciuric Hypercalcemia	Osteomalacia, Peptic ulcer	ORPHA:405
Pmm2-Cdg	Osteopenia, Thin upper lip vermilion, Joint laxity, Multiple joint contractures, Respiratory dist...	ORPHA:79318
Congenitally Corrected Transposition Of The Great Arteries	Cyanosis	ORPHA:216694
Hypermobile Ehlers-Danlos Syndrome	Acrocyanosis, Apnea	ORPHA:285
Alström Syndrome	Respiratory distress, Abnormality of dental color, Thoracic scoliosis, Short toe, Chronic pulmona...	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 Sox5

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 Sox5.

No publications found that use IMPC mice or data for Sox5.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Sox5^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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