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 |
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Neonatal respiratory distress, Short ribs |
OMIM:187770 |
Diaphanospondylodysostosis |
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Respiratory distress, Missing ribs, Short thorax, Cleft palate, Enlarged thorax, Narrow pelvis bo... |
ORPHA:66637 |
Metatropic Dysplasia |
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Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... |
OMIM:156530 |
Venular Insufficiency, Systemic |
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Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
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Cyanosis |
OMIM:185460 |
Thoracic Dysostosis, Isolated |
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Pectus excavatum, Short ribs, Bell-shaped thorax |
OMIM:187750 |
Achondrogenesis Type 2 |
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Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... |
ORPHA:93296 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
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Acrocyanosis |
ORPHA:86918 |
Thanatophoric Dysplasia, Type Ii |
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Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
Laryngotracheal Angioma |
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Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Granulomas, Congenital Cerebral |
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Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
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Neonatal death |
OMIM:305690 |
Emphysema, Congenital Lobar |
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Respiratory distress |
OMIM:130710 |
Achondrogenesis, Type Ib |
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Micromelia, Hypoplastic ilia, Respiratory insufficiency, Stillbirth, Narrow chest, Absent or mini... |
OMIM:600972 |
Isolated Congenital Hypoglossia/Aglossia |
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Respiratory distress, Micrognathia, Dyspnea, Aplasia/Hypoplasia of fingers, Cleft palate, Upper a... |
ORPHA:141152 |
Dysosteosclerosis |
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Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b... |
OMIM:224300 |
Thoracomelic Dysplasia |
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Bell-shaped thorax, Short ribs |
OMIM:273740 |
Axial Spondylometaphyseal Dysplasia |
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Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
Orofaciodigital Syndrome Iii |
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Pectus excavatum, Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot... |
OMIM:258850 |
Chondrodysplasia, Blomstrand Type |
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Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... |
OMIM:215045 |
Gordon Syndrome |
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Finger syndactyly, Camptodactyly of finger, Pectus excavatum, Limitation of joint mobility, Cleft... |
ORPHA:376 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
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Coarse metaphyseal trabecularization, Neonatal respiratory distress, Metaphyseal widening, Square... |
OMIM:618961 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
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Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion... |
ORPHA:1145 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
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Respiratory distress, Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Lateral... |
OMIM:617895 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
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Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A... |
OMIM:602196 |
Lethal Congenital Contracture Syndrome 3 |
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Neonatal death, Respiratory insufficiency |
OMIM:611369 |
Methemoglobinemia, Beta Type |
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Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
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Cyanosis |
OMIM:617973 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
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Respiratory distress |
ORPHA:2680 |
Achondrogenesis, Type Ii |
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Microretrognathia, Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, S... |
OMIM:200610 |
Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
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Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Pseudoarthrosis |
OMIM:618155 |
Kyphomelic Dysplasia |
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Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
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Delayed vertebral ossification, Enlarged epiphyses, Thoracic kyphoscoliosis, Metaphyseal dysplasi... |
OMIM:613330 |
Cataract-Hypertrichosis-Intellectual Disability Syndrome |
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Microdontia, Pectus excavatum, Abnormal palate morphology |
ORPHA:1375 |
Thoracomelic Dysplasia |
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Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Joint hyperflexibility, Abnormal pel... |
ORPHA:1803 |
Seizures, Benign Familial Infantile, 3 |
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Cyanosis, Apnea |
OMIM:607745 |
Fibrochondrogenesis |
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Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Abnormal rib m... |
ORPHA:2021 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Death in infancy, Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Deep philtru... |
OMIM:613320 |
Schneckenbecken Dysplasia |
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Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later... |
OMIM:269250 |
Congenital Myopathy 10A, Severe Variant |
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Respiratory distress, Camptodactyly of finger, Pectus excavatum, Cleft palate, Respiratory insuff... |
OMIM:614399 |
Pierre Robin Syndrome |
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Neonatal respiratory distress, Micrognathia, Pierre-Robin sequence, Upper airway obstruction, Cle... |
OMIM:261800 |
Catel-Manzke Syndrome |
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Camptodactyly of finger, Micrognathia, Metatarsus valgus, Pectus excavatum, Joint stiffness, Radi... |
ORPHA:1388 |
Fetal Akinesia Deformation Sequence 4 |
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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 |
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Respiratory distress, Micromelia, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia... |
OMIM:151210 |
Lethal Recessive Chondrodysplasia |
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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 |
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Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Pallister-Hall-Like Syndrome |
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Death in infancy, Median cleft lip, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand poly... |
OMIM:241800 |
Congenital Myopathy 4B, Autosomal Recessive |
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Pectus excavatum, Flexion contracture, High palate, Respiratory insufficiency |
OMIM:609284 |
Achondrogenesis, Type Ia |
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Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... |
OMIM:200600 |
Multiple Synostoses Syndrome 1 |
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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 |
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Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
Orofaciodigital Syndrome Type 3 |
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Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Pectus excavatum, Postaxi... |
ORPHA:2752 |
Isolated Pierre Robin Syndrome |
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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 |
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Scapular winging, Neonatal respiratory distress, Pectus excavatum, Short thorax, Thick lower lip ... |
OMIM:273750 |
Stuve-Wiedemann Syndrome 2 |
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Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... |
OMIM:619751 |
Multiple Epiphyseal Dysplasia, Lowry Type |
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Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys... |
ORPHA:166016 |
Interstitial Pneumonitis, Desquamative, Familial |
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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 |
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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 |
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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 |
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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 |
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Aspiration, Cyanosis |
OMIM:215800 |
Atelosteogenesis Type Ii |
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Micromelia, Micrognathia, Tracheobronchomalacia, Narrow chest, Short phalanx of finger, Hypoplast... |
ORPHA:56304 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
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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 |
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Dyspnea, Acrocyanosis |
ORPHA:589 |
Celiac Disease, Susceptibility To, 1 |
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Celiac disease, Osteoporosis, Rickets, Recurrent aphthous stomatitis, Steatorrhea, Stomatitis, En... |
OMIM:212750 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Hallux valgus, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Pectus excavatum, Pyl... |
ORPHA:464306 |
Cowden Syndrome |
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Pectus excavatum, Bone cyst, Furrowed tongue, Hamartomatous polyposis, Macroglossia, Colorectal p... |
ORPHA:201 |
Congenital Alveolar Capillary Dysplasia |
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Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, D... |
ORPHA:210122 |
Pallister-Killian Syndrome |
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Tented upper lip vermilion, Congenital hip dislocation, Micrognathia, Flexion contracture, Anteri... |
OMIM:601803 |
Neuroocular Syndrome |
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Hyperextensibility of the finger joints, Scapular winging, Tapered finger, Pectus excavatum, Shor... |
OMIM:619539 |
Double Outlet Left Ventricle |
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Tachypnea, Cyanosis |
ORPHA:3427 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
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Respiratory distress, Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth... |
OMIM:305100 |
Lymphatic Malformation 7 |
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Respiratory distress, Pleural effusion, Chylothorax |
OMIM:617300 |
Neuromuscular Oculoauditory Syndrome |
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Respiratory distress, Aspiration, Wrist flexion contracture, Knee flexion contracture |
OMIM:618733 |
Listeriosis |
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Respiratory distress, Stiff neck, Osteomyelitis, Pneumonia, Miscarriage, Respiratory failure, Sep... |
ORPHA:533 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
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Respiratory distress |
OMIM:251000 |
Bacterial Toxic-Shock Syndrome |
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Respiratory distress, Osteomyelitis, Sinusitis, Pneumonia, Tachypnea, Arthritis, Septic arthritis |
ORPHA:36234 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
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Cyanosis |
ORPHA:488627 |
1P36 Deletion Syndrome |
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11 pairs of ribs, Brachydactyly, Camptodactyly of finger, Joint stiffness, Pyloric stenosis, Narr... |
ORPHA:1606 |
Cryptococcosis |
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Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Osteolysis, Cough, Pleural effusion |
ORPHA:1546 |
Idiopathic Hypereosinophilic Syndrome |
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Myelofibrosis, Respiratory distress, Swelling of proximal interphalangeal joints, Malabsorption, ... |
ORPHA:3260 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Sinusitis, Micrognathia, Pectus excavatum, Abnormal tibia morphology, Bone cyst, Genu valgum, Thi... |
ORPHA:363700 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Joint laxity, Anomaly of lower limb diaphyses, Abnormal dental morphology, Arachnodactyly, Trache... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Joint laxity, Anomaly of lower limb diaphyses, Abnormal dental morphology, Arachnodactyly, Trache... |
ORPHA:363958 |
Cystinosis |
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Rickets, Malabsorption |
ORPHA:213 |
Coffin-Siris Syndrome 12 |
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Joint laxity, Micrognathia, Celiac disease, Short thumb, Velopharyngeal insufficiency, Submucous ... |
OMIM:619325 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Fat malabsorption, Rickets, Steatorrhea |
OMIM:607765 |
Noonan Syndrome With Multiple Lentigines |
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Pectus excavatum, Scapular winging, Sprengel anomaly, Pectus carinatum |
ORPHA:500 |
Microphthalmia, Syndromic 1 |
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Dental crowding, High, narrow palate, Rectal prolapse, Orofacial cleft, High palate, Narrow chest... |
OMIM:309800 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
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Respiratory distress, Death in infancy, Jaundice |
OMIM:617156 |
Yunis-Varon Syndrome |
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Congenital hip dislocation, Micrognathia, Short metatarsal, Short philtrum, High palate, Absent h... |
OMIM:216340 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Rickets |
OMIM:611590 |
Neurofibromatosis-Noonan Syndrome |
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Pectus excavatum, Pectus excavatum of inferior sternum, Thick vermilion border, Superior pectus c... |
OMIM:601321 |
Renal Tubular Acidosis, Distal, 1 |
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Pathologic fracture, Osteomalacia |
OMIM:179800 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Ankle flexion contracture, Tapered finger, Pectus excavatum, Short toe, Short foot, Flexion contr... |
ORPHA:464311 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
Aortic Arch Interruption |
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Respiratory distress, Tachypnea, Cyanosis, Exertional dyspnea |
ORPHA:2299 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Death in infancy, Cyanosis |
OMIM:617478 |
Dubowitz Syndrome |
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Delayed eruption of teeth, Syndactyly, Micrognathia, Carious teeth, Velopharyngeal insufficiency,... |
OMIM:223370 |
Lujo Hemorrhagic Fever |
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Respiratory distress, Crackles, Nonproductive cough, Rhinitis, Ecchymosis, Purpura |
ORPHA:319213 |
Hardikar Syndrome |
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Thoracolumbar scoliosis, Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal va... |
OMIM:301068 |
Poems Syndrome |
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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 |
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Respiratory failure |
OMIM:616538 |
Fanconi Renotubular Syndrome 1 |
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Rickets, Osteomalacia |
OMIM:134600 |
Primrose Syndrome |
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Hip contracture, Joint hypermobility, Metatarsus adductus, Pectus excavatum, Thick lower lip verm... |
OMIM:259050 |
Goodpasture Syndrome |
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Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... |
OMIM:233450 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Fat malabsorption, Rickets, Steatorrhea |
ORPHA:79303 |
Japanese Encephalitis |
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Respiratory distress, Stiff neck, Elbow flexion contracture, Respiratory paralysis, Abnormal patt... |
ORPHA:79139 |
Microphthalmia With Linear Skin Defects Syndrome |
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Respiratory distress, Abnormal dental enamel morphology, Micrognathia, Dyspnea, Respiratory failu... |
ORPHA:2556 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Respiratory distress, Neonatal respiratory distress, Respiratory acidosis, Narrow chest, Narrow m... |
OMIM:614748 |
Fanconi-Bickel Syndrome |
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Osteopenia, Bowing of the long bones, Rickets |
ORPHA:2088 |
Oeis Complex |
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11 pairs of ribs, Absence of the sacrum, Congenital hip dislocation, Intestinal malrotation, Ante... |
OMIM:258040 |
Congenital Enterovirus Infection |
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Respiratory distress, Pleural effusion |
ORPHA:292 |
Bickerstaff Brainstem Encephalitis |
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Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ... |
ORPHA:79138 |
Kasabach-Merritt Syndrome |
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Respiratory distress, Petechiae, Hypopnea, Purpura |
ORPHA:2330 |
Abetalipoproteinemia |
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Osteopenia, Fat malabsorption, Respiratory failure, Steatorrhea |
ORPHA:14 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Intestinal malrotation, Cleft soft palate, Flexion contracture, Genu valgum, Downturned corners o... |
OMIM:619321 |
Congenital Disorder Of Deglycosylation 1 |
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Respiratory distress, Small hand, Osteoporosis, Short foot, Open mouth |
OMIM:615273 |
Kallmann Syndrome-Heart Disease Syndrome |
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Cyanosis |
ORPHA:2326 |
Hemorrhagic Fever-Renal Syndrome |
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Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion |
ORPHA:340 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Respiratory distress, Osteomyelitis, Gastritis, Pneumonia, Malabsorption, Ileus, Interstitial pne... |
ORPHA:37042 |
Alternating Hemiplegia Of Childhood |
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Respiratory distress, Apnea, Exaggerated cupid's bow, Downturned corners of mouth, Aspiration |
ORPHA:2131 |
Williams Syndrome |
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Osteopenia, Micrognathia, Rectal prolapse, Microdontia, Clinodactyly of the 5th finger, Joint lax... |
ORPHA:904 |
Unilateral Polymicrogyria |
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Cyanosis, Apnea, Epistaxis |
ORPHA:268943 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Respiratory distress, Dyspnea |
OMIM:115197 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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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 |
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Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea |
ORPHA:99050 |
Histiocytoid Cardiomyopathy |
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Tachypnea, Cyanosis, Cough |
ORPHA:137675 |
Fucosidosis |
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Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
Biotinidase Deficiency |
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Respiratory distress, Apnea, Hyperventilation |
ORPHA:79241 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
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Thin upper lip vermilion, Asthma, Nasal flaring, Downturned corners of mouth, Wide mouth, Short p... |
ORPHA:466943 |
Cocaine Intoxication |
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Respiratory distress, Intestinal perforation, Wheezing, Tachypnea, Pneumothorax, Colitis, Cough, ... |
ORPHA:90068 |
Velocardiofacial Syndrome |
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Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, O... |
OMIM:192430 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Micrognathia, Pectus excavatum, Supernumerary tooth, Osteoporosis, Pectus carinatum, Narrow chest... |
OMIM:619525 |
Toxic Epidermal Necrolysis |
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Respiratory distress, Malabsorption, Intestinal perforation, Tracheoesophageal fistula, Restricti... |
ORPHA:537 |
Microphthalmia, Syndromic 2 |
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Delayed eruption of teeth, Broad hallux, Sandal gap, Persistence of primary teeth, Supernumerary ... |
OMIM:300166 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Respiratory distress, Pulmonary embolism, Stomatitis, Pulmonary arterial hypertension, Glossitis,... |
ORPHA:79282 |
Tolchin-Le Caignec Syndrome |
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Arachnodactyly, Micrognathia, Submucous cleft hard palate, High palate, Narrow mouth, Clinodactyl... |
OMIM:618971 |
Autosomal Recessive Polycystic Kidney Disease |
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Hypoventilation, Spontaneous pneumothorax, Micrognathia, Recurrent pneumonia, Esophageal varix, R... |
ORPHA:731 |
Q Fever |
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Respiratory distress, Pneumonia, Cough, Pleural effusion, Purpura |
ORPHA:781 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
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Respiratory failure, Death in childhood |
OMIM:618252 |
Vascular Ehlers-Danlos Syndrome |
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Congenital hip dislocation, High, narrow palate, Abnormality of the gingiva, Osteoarthritis, Ging... |
ORPHA:286 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion contracture, Pectus carinat... |
ORPHA:261537 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Hallux valgus, Micrognathia, Pectus excavatum, Short metatarsal, High palate, Short 4th metacarpal |
ORPHA:1772 |
Wiedemann-Rautenstrauch Syndrome |
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Osteopenia, Hypoplastic vertebral bodies, Downturned corners of mouth, Short philtrum, Premature ... |
ORPHA:3455 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Acrocyanosis, Decreased sensitivity to hypoxemia |
OMIM:223900 |
Cardiac Valvular Dysplasia 2 |
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Central cyanosis |
OMIM:620067 |
Methylmalonic Aciduria, Cblb Type |
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Respiratory distress |
OMIM:251110 |
Heterotaxy, Visceral, 1, X-Linked |
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Respiratory distress, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Posteri... |
OMIM:306955 |
Distal Renal Tubular Acidosis |
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Osteomalacia, Respiratory insufficiency due to muscle weakness, Rickets, Increased susceptibility... |
ORPHA:18 |
Mowat-Wilson Syndrome |
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Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion contracture, Pectus carinat... |
ORPHA:2152 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
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Rickets, Recurrent fractures |
OMIM:268315 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Hallux valgus, Spontaneous, recurrent epistaxis, Pectus excavatum, Esophageal varix, Gastric ulce... |
ORPHA:2072 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Osteomalacia, Rickets, Osteoporosis, Colitis, Steatorrhea |
ORPHA:309031 |
Steinert Myotonic Dystrophy |
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Respiratory failure requiring assisted ventilation, Tented upper lip vermilion, Intestinal pseudo... |
ORPHA:273 |
Fanconi-Bickel Syndrome |
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Rickets, Osteomalacia, Malabsorption |
OMIM:227810 |
Waardenburg Syndrome, Type 2E |
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Pectus excavatum |
OMIM:611584 |
Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb |
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Pectus excavatum, Bone cyst, Joint hypermobility |
OMIM:613675 |
Williams-Beuren Syndrome |
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Colonic diverticula, Hallux valgus, Osteopenia, Joint laxity, Down-sloping shoulders, Celiac dise... |
OMIM:194050 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Respiratory distress, Cervical ribs, Intestinal malrotation |
ORPHA:2255 |
Eisenmenger Syndrome |
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Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul... |
ORPHA:97214 |
Mowat-Wilson Syndrome |
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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 |
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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 |
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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 |