Not currently registered for phenotyping at IMPC

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

Gene Summary

SRY (sex determining region Y)-box 5

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

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

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

Disease Similarity of
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
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
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
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
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
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
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
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
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
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
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
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