| Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
| Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
| Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Upper airway obst... |
ORPHA:141152 |
| Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... |
OMIM:615294 |
| Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
| Anonychia-Microcephaly Syndrome |
|
Carious teeth, Abnormality of the dentition |
ORPHA:1094 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
| Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
| Perching Syndrome |
|
Respiratory distress, Cyanosis, High palate, Dysphagia, Joint contracture, Camptodactyly |
OMIM:617055 |
| Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Respiratory insufficiency, Respiratory failure, Tongue fascicul... |
OMIM:253300 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
| Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
| Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... |
ORPHA:2302 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| 48,Xyyy Syndrome |
|
Impulsivity, Aggressive behavior, Asthma, Thick lower lip vermilion, Recurrent upper respiratory ... |
ORPHA:99329 |
| Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Micrognathia, Dyspnea, Gingival overgrowth, Gingival fibromatosis, Respirat... |
ORPHA:1832 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
| Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
| Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2222 |
| Catifa Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Cleft lip, Asthma, Cleft palate, Increased overbite, ... |
OMIM:618761 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
| Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
| Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
| Auriculocondylar Syndrome 2A |
|
Respiratory distress, Dental crowding, Apnea, Micrognathia, Narrow mouth, Temporomandibular joint... |
OMIM:614669 |
| Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
| Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia |
OMIM:226650 |
| Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition |
OMIM:125440 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
| Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
| Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Respiratory distress, Retrognathia, Dentinogenesis i... |
ORPHA:166272 |
| Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
| Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta |
ORPHA:71267 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Respiratory failure, Tongue fasciculations, Death in childhood, Joint ... |
OMIM:616081 |
| Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency, Cleft palate, Narrow mouth |
ORPHA:2901 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia |
OMIM:183300 |
| Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Asthma, Hypodontia, Dysphagia, Enamel hypoplasia |
OMIM:616029 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Recurrent respiratory infections, Enamel hypoplasia, Thick vermilion border |
ORPHA:363523 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... |
ORPHA:2025 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Neonatal respiratory distress, Increased connective tissue, Carious teeth, Scarring alopecia of s... |
OMIM:226670 |
| Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRC... |
ORPHA:79126 |
| Dentin Dysplasia |
|
Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
| Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2026 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... |
OMIM:619773 |
| Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Atelectasis, High palate, Neonatal death, Retrognathia |
OMIM:300219 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Camptodactyly of finger, Respiratory insufficiency, Cleft palate, Restricti... |
OMIM:614399 |
| Intellectual Disability, Birk-Barel Type |
|
Hyperactivity, Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow pal... |
ORPHA:166108 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Atrophic scars, Enamel hypoplasia, Death in infancy |
OMIM:226700 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
| C1Q Deficiency 2 |
|
Atelectasis, Bronchiectasis, Oral ulcer, Facial erythema, Vasculitis in the skin, Recurrent lower... |
OMIM:620321 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Abnormality of the dentition, Cellul... |
ORPHA:2314 |
| Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
| Anti-Glomerular Basement Membrane Disease |
|
Persistence of primary teeth, Respiratory insufficiency, Pulmonary infiltrates, Cough, Purpura |
ORPHA:375 |
| Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Scarring alopecia of scalp, Dental enamel pits |
OMIM:619787 |
| Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Respiratory distress, Recurrent respiratory infections, Death in infan... |
OMIM:184260 |
| Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
| Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Enamel hypoplasia, Ectodermal dysplasia |
OMIM:613576 |
| Congenital Myopathy 14 |
|
Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... |
OMIM:618414 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... |
OMIM:267450 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate |
OMIM:600252 |
| Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Micrognathia, A... |
ORPHA:2257 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Enamel hypoplasia, Atrophic scars, Oral mucosal blisters |
ORPHA:79402 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Enamel hypoplasia, Retrognathia, High palate |
OMIM:617915 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture |
OMIM:203550 |
| Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Micrognathia, Respiratory insufficiency due to muscle weakness, Respiratory failure, High palate,... |
OMIM:611890 |
| Junctional Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia, Fragile skin |
ORPHA:79405 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... |
ORPHA:2325 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... |
ORPHA:70587 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Downturned corners of mouth, Recurrent respiratory infections, Enamel hypoplasia |
ORPHA:2643 |
| 17Q11.2 Microduplication Syndrome |
|
Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology |
ORPHA:139474 |
| Trichodental Dysplasia |
|
Odontodysplasia, Hypodontia, Conical tooth |
OMIM:601453 |
| Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Cutis marmorata, Achilles tendon contracture, Dental malocclusion, Wide... |
OMIM:619719 |
| Rubinstein-Taybi Syndrome 2 |
|
Hyperactivity, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High ... |
OMIM:613684 |
| Atkin-Flaitz Syndrome |
|
Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor... |
ORPHA:1193 |
| Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia |
ORPHA:2871 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Hypodontia |
ORPHA:63442 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Neonatal asphyxia, Wheezing, P... |
ORPHA:70588 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Crackles, Nonproductive cough, Dyspnea, Wheezing, As... |
ORPHA:2902 |
| Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
| Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... |
OMIM:616726 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Micrognathia |
OMIM:300580 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... |
OMIM:263000 |
| Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... |
OMIM:265120 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Livedo, Telangiectasia, Conical incisor, Facial telangiectasia, Enamel hypoplasia |
OMIM:614564 |
| Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia, Fragile skin |
ORPHA:79406 |
| Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
| Waardenburg Syndrome Type 3 |
|
Tented upper lip vermilion, Camptodactyly of finger, Atelectasis, Tracheomalacia, Acrocyanosis |
ORPHA:896 |
| Stimmler Syndrome |
|
Microdontia, Abnormal dental enamel morphology |
ORPHA:3199 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Tongue fasciculations, Respiratory insufficiency, Increased connective tissue |
ORPHA:238329 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure, Tongue fasciculations |
OMIM:600561 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Atrophic scars, Enamel hypoplasia, Generalized abnormality ... |
ORPHA:79411 |
| Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
| Filippi Syndrome |
|
Thin vermilion border, Short philtrum, Hypodontia, Microdontia, Serrated incisors |
OMIM:272440 |
| Autosomal Dominant Striatal Neurodegeneration |
|
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Dysphagia |
ORPHA:228169 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Microretrognathia, Inguinal hernia, Hip contracture, Micrognathia, Carious... |
OMIM:618363 |
| Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi... |
OMIM:618729 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations, Respiratory failure, Dysphagia |
OMIM:613435 |
| Immunodeficiency 33 |
|
Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
| Hall-Riggs Syndrome |
|
Thick lower lip vermilion, Microdontia of primary teeth, Hypoplasia of the primary teeth, U-Shape... |
OMIM:234250 |
| Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca... |
ORPHA:251393 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
| Hyperekplexia 4 |
|
Inguinal hernia, Flexion contracture, Respiratory failure, Distal arthrogryposis, High palate, Ca... |
OMIM:618011 |
| Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene... |
OMIM:613849 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Choki... |
ORPHA:137914 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Anorexia, Ground-glass opacific... |
ORPHA:1302 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Dysphagia, Respiratory failure, Aspi... |
ORPHA:90117 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Wide mouth, Widely spaced teeth, Respiratory distress, Micrognathia |
OMIM:300934 |
| Lethal Congenital Contracture Syndrome 11 |
|
Microretrognathia, Flexion contracture, Elbow flexion contracture, Retrognathia, Distal arthrogry... |
OMIM:617194 |
| Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
| Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
| High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary opacity,... |
ORPHA:330012 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Dentinogenesis imperfecta |
ORPHA:166277 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy |
OMIM:254120 |
| 48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Inguinal hernia, Recurrent respiratory infections, Apnea, A... |
ORPHA:10 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Aggressive behavior, Wide mouth, High palate, Attenti... |
OMIM:618825 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Telangiectasia of the skin, Abnormal dental enamel morphology, Gingiva... |
ORPHA:3019 |
| Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Thin upper lip vermilion, Neonatal respiratory distress, Death in infancy, ... |
OMIM:615042 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia |
OMIM:615502 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Dental crowding, Persistence of primary teeth, Micrognathia, Aggressive behavior, ... |
OMIM:618342 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn... |
OMIM:608647 |
| Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... |
OMIM:300602 |
| Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau... |
ORPHA:3352 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Persistence of primary teeth, Erythema, Recurrent pneumonia, ... |
OMIM:147060 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
| Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:612463 |
| Odontomicronychial Dysplasia |
|
Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Ectodermal dysplasi... |
ORPHA:1811 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor |
OMIM:620062 |
| Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... |
ORPHA:2004 |
| Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Crackles, Ground-glass opacification, Dyspnea, Asthma, Wheezing, Atelec... |
OMIM:620233 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of... |
ORPHA:254361 |
| Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Hypodontia, Shagreen patch |
ORPHA:1816 |
| Mulibrey Nanism |
|
Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malocclusion, Hypodo... |
OMIM:253250 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... |
ORPHA:266 |
| Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
| Heimler Syndrome 1 |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:234580 |
| 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 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced teeth, Apnea |
OMIM:619797 |
| Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
| Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... |
ORPHA:50251 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
| Bronchogenic Cyst |
|
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... |
ORPHA:2357 |
| Vascular Malformation, Primary Intraosseous |
|
Umbilical hernia, Ectopic tooth eruption, Gingival bleeding |
OMIM:606893 |
| Trichodentoosseous Syndrome |
|
Microdontia, Taurodontia, Widely spaced teeth |
OMIM:190320 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Macroglossia, Micrognathia |
ORPHA:1423 |
| Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough... |
ORPHA:723 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Ectodermal dysplasia, Enamel hypoplasia, Widely spaced teeth, Conical tooth |
OMIM:613573 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth |
ORPHA:248 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Micrognathia, Flexion contracture, Gingival overgrowth, Narrow palate, Re... |
OMIM:618186 |
| Osteogenesis Imperfecta, Type V |
|
Dentinogenesis imperfecta |
OMIM:610967 |
| Intermediate Nemaline Myopathy |
|
High, narrow palate, Flexion contracture, Respiratory failure, Dysphagia, Arthrogryposis multiple... |
ORPHA:171433 |
| Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure, Flexion contracture, Dysphagia |
OMIM:615348 |
| Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia |
OMIM:618349 |
| Hypoglossia With Situs Inversus |
|
Respiratory distress, Micrognathia, Upper airway obstruction, High palate, Hypodontia, Narrow mou... |
OMIM:612776 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Hip contracture, Ankle flexion contracture, Micrognathia, Respiratory insuf... |
ORPHA:1143 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Abnormality of the temporomandibular joint, Protruding tongue, Increased connect... |
ORPHA:258 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Recurrent pneumonia, Dental malocclusion, Flex... |
OMIM:619293 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion |
ORPHA:181 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Arthrogryposis-like h... |
OMIM:620011 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Dental crowding, Ankle flexion contracture, Micrognathia, Flexion contracture, E... |
OMIM:617468 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Pulmonary... |
ORPHA:36238 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Persistence of primary teeth, Asthma, Supernumerary tooth, Recurrent pneumonia, Bronchiectasis, R... |
OMIM:619752 |
| Osteogenesis Imperfecta, Type Ix |
|
Dentinogenesis imperfecta |
OMIM:259440 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow |
OMIM:618506 |
| Osteogenesis Imperfecta, Type Xix |
|
Dentinogenesis imperfecta |
OMIM:301014 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H... |
OMIM:619736 |
| Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Congenital diaphragmatic hernia |
ORPHA:99811 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To... |
ORPHA:2863 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Micrognathia, Knee flexion contracture, Pulmonary hypoplasi... |
OMIM:616531 |
| Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
| Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
| Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
| Acute Lung Injury |
|
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... |
ORPHA:178320 |
| Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth |
OMIM:619489 |
| Microphthalmia, Syndromic 12 |
|
Congenital diaphragmatic hernia, Micrognathia, Cleft palate, Pulmonary hypoplasia, Neonatal death... |
OMIM:615524 |
| Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W... |
OMIM:618067 |
| Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
| Restrictive Dermopathy 2 |
|
Microretrognathia, Cyanosis, Hypoplastic facial bones, Respiratory distress |
OMIM:619793 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormality of the philtrum, Aplasia/Hypo... |
ORPHA:2759 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Swollen lip, Angioedema, Erythema, Upper airway obstruction, ... |
ORPHA:100057 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Cough, Flexion contracture, Dysphagia, Ab... |
ORPHA:77260 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Macroglossia, High pala... |
ORPHA:254864 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Mandibular prognathia, Respiratory distress, Death in infancy, Death in childhood, Respiratory fa... |
OMIM:620278 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Camptodactyly of finger, Abnormal lung lobation, Cleft palate, Thin vermilion border, Pulmonary h... |
ORPHA:2631 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Micrognathia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Respirato... |
ORPHA:75840 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... |
ORPHA:91359 |
| Immunodeficiency 9 |
|
Death in infancy, Respiratory insufficiency due to muscle weakness, Ectodermal dysplasia, Recurre... |
OMIM:612782 |
| Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m... |
ORPHA:952 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded maxillary incisors, Abnor... |
ORPHA:2063 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia, Facial erythema |
OMIM:612843 |
| Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,... |
ORPHA:449280 |
| Sjogren-Larsson Syndrome |
|
Enamel hypoplasia, Flexion contracture |
OMIM:270200 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... |
ORPHA:98913 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory insufficiency, Respiratory failure, High palate, Arthrogryposis multiplex congenita, ... |
OMIM:615330 |
| Nance-Horan Syndrome |
|
Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor |
OMIM:302350 |
| Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth, Ectodermal dysplasia |
OMIM:129550 |
| 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 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Micrognathia, High, narrow palate, Dyspnea, Wide mouth, Abnormal upper lip ... |
ORPHA:2707 |
| Osteogenesis Imperfecta, Type Xxii |
|
Dentinogenesis imperfecta |
OMIM:619795 |
| Seckel Syndrome 5 |
|
Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypodontia, Ename... |
OMIM:613823 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Multiple joint contractures, Abnormality of the tongue muscle, Respiratory insufficiency, Respira... |
ORPHA:370968 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms |
OMIM:616341 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia, Micrognathia, Aglossia, Cleft palate, Pulmonary hypoplasia,... |
OMIM:202650 |
| Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Respiratory failure, Congenital contracture, Dysphagia |
OMIM:225753 |
| Snijders Blok-Campeau Syndrome |
|
Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Attention deficit hyperactivity d... |
OMIM:618205 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Macroglossia, Omphalocele |
OMIM:614450 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
| Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth, Death in infancy, Agitation |
OMIM:272300 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Absent frontal sinuses, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis,... |
OMIM:244400 |
| Laron Syndrome |
|
Delayed eruption of teeth, Prematurely aged appearance, Micrognathia, Tooth agenesis, Microdontia |
ORPHA:633 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Micrognathia, Carious teeth, Recurrent pneumonia, Flexion contracture,... |
OMIM:214150 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phosp... |
OMIM:610910 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Diastema, Deep philtrum, Talon cusp, Cleft palate, Microdontia |
OMIM:605282 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Flexion contracture, Respiratory failure, Pulmonary hypoplasia, Dy... |
OMIM:616867 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Head-banging, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open ... |
OMIM:619356 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
| Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Progeroid facial appearance, ... |
ORPHA:90322 |
| Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Natal tooth, Inguinal hernia, Median cleft lip, Hamartoma of tongue, Atelectasis, Re... |
OMIM:269860 |
| Trichothiodystrophy 2, Photosensitive |
|
Cutaneous photosensitivity, Agenesis of maxillary lateral incisor |
OMIM:616390 |
| Oromandibular Dystonia |
|
Respiratory distress, Abnormality of the temporomandibular joint, Abnormal mandible morphology, D... |
ORPHA:93958 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
| Hereditary Methemoglobinemia |
|
Lip discoloration, Cyanosis, Exertional dyspnea |
ORPHA:621 |
| Pachyonychia Congenita |
|
Respiratory distress, Natal tooth, Angular cheilitis, Advanced eruption of teeth, Oral leukoplakia |
ORPHA:2309 |
| Pili Torti |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:2889 |
| Specific Granule Deficiency 2 |
|
Death in infancy, Conical tooth, Recurrent pneumonia, Death in childhood, Tooth malposition, Amel... |
OMIM:617475 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Thin upper lip vermilion, Long philtrum |
OMIM:614741 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
| Auriculocondylar Syndrome |
|
Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of t... |
ORPHA:137888 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... |
ORPHA:1303 |
| Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... |
ORPHA:1946 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Macrodontia of permanent maxillary central incisor, Retrognathia, Sudden episodic apnea, Neuromus... |
ORPHA:466722 |
| Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... |
OMIM:601216 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Thin upper lip vermilion, Recurrent respiratory infections, Micrognathia, D... |
ORPHA:329178 |
| Congenital Myasthenic Syndrome |
|
Microretrognathia, Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermitten... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Microretrognathia, Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermitten... |
ORPHA:98914 |
| Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Dysphagia, Death in adolescence, Stillbirth, Camptodactyly, Neonatal death,... |
OMIM:619751 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Death in infancy, Inguinal hernia, Progeroid facial appearan... |
OMIM:613177 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Flexion contracture, Respiratory failure, Dysph... |
ORPHA:2590 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Death in infancy, Oral mucosal blisters, Atrophic scars, Arthrogryposis multiplex congenita, Enam... |
OMIM:226730 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ... |
ORPHA:363417 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Dyspnea, Trismus |
ORPHA:98810 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Multiple joint contractures, Repeated pneumothoraces, Tracheomalacia, Micro... |
ORPHA:536467 |
| Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Cleft palate, Respiratory failure, Camptodactyly of toe, Fragile skin |
ORPHA:158687 |
| Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea |
OMIM:610992 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Camptodactyly of finger, Flexion contracture, Wide mouth, Respiratory failure, ... |
ORPHA:1194 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Carious teeth, Premature loss of teeth |
OMIM:161000 |
| 4H Leukodystrophy |
|
Delayed eruption of teeth, Hypodontia, Dysphagia, Abnormality of the dentition |
ORPHA:289494 |
| Heimler Syndrome 2 |
|
Dental crowding, Amelogenesis imperfecta |
OMIM:616617 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Dental crowding, Oral-pharyngeal dysphagia, Tracheobronchomalacia, Pierre-Robin sequence, Cleft p... |
OMIM:619184 |
| Cenani-Lenz Syndactyly Syndrome |
|
Premature loss of permanent teeth, Micrognathia, Hypodontia, Malar flattening, Enamel hypoplasia |
OMIM:212780 |
| Osteogenesis Imperfecta, Type Iii |
|
Pulmonary arterial hypertension, Dentinogenesis imperfecta, Micrognathia |
OMIM:259420 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Atrophic scars, Enamel hypoplasia, Fragile skin |
ORPHA:79409 |
| Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth |
OMIM:112350 |
| Brittle Cornea Syndrome 1 |
|
Palmoplantar cutis laxa, Dentinogenesis imperfecta, Atypical scarring of skin |
OMIM:229200 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Oral mucosal blisters, Carious teeth, Atypical scarring of skin, Atrophic scars, Keloids, Enamel ... |
ORPHA:79410 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border |
OMIM:620114 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion |
OMIM:601957 |
| Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Recurrent respiratory infections, Protruding tongue, Persiste... |
OMIM:610253 |
| Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... |
OMIM:617180 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Dental crowding, Hiatus hernia, Persistence of primary teeth, Recurrent pneumonia, Recurrent uppe... |
OMIM:619769 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Ground-glass opacification, Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pu... |
ORPHA:79127 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
| Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Gingi... |
ORPHA:137834 |
| Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Inguinal hernia, Micrognathia, Recurrent pneumonia, Death in childhood, Mal... |
OMIM:613848 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Aggressive behavior, Narrow palate, Short upper lip, Thick vermilion borde... |
ORPHA:364028 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Recurre... |
OMIM:211530 |
| Atelosteogenesis, Type Ii |
|
Death in infancy, Micrognathia, Respiratory insufficiency, Cleft palate, Stillbirth, Pulmonary hy... |
OMIM:256050 |
| Pseudohypoaldosteronism Type 2 |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:757 |
| Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Micrognathia |
OMIM:601809 |
| Radio-Renal Syndrome |
|
Respiratory distress, Micrognathia, High, narrow palate, Dyspnea, Downturned corners of mouth, Re... |
ORPHA:3015 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Lipoatrophy, Micrognathia, Thin vermilion border, Short philtrum |
ORPHA:261304 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Oli... |
OMIM:618727 |
| Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... |
OMIM:257850 |
| Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
| Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ... |
ORPHA:2919 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Asthma, Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrognathia... |
OMIM:619269 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Tongue thrusting, Pica, Downturned corners of mouth, Stereotypical body rocking, E... |
OMIM:617865 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Carious teeth, Thick vermilion border, Widely spaced teeth, Respiratory distress |
OMIM:617102 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
| Snakebite Envenomation |
|
Epistaxis, Angioedema, Erythema, Neuromuscular dysphagia, Respiratory failure, Pseudobulbar paral... |
ORPHA:449285 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Abnormal dental enamel morphology, Scarring alopecia of scalp, Jaundice, Oligodontia, Hypodontia |
ORPHA:59303 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti... |
ORPHA:69087 |
| Braddock-Carey Syndrome 1 |
|
Pierre-Robin sequence, Cleft palate, Everted lower lip vermilion, Thick vermilion border, Camptod... |
OMIM:619980 |
| Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Reduced forced vital capacity, Achilles tendon contracture, Recurrent pneumoni... |
OMIM:620249 |
| Taurodontism |
|
Taurodontia |
OMIM:272700 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... |
OMIM:606763 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Oral mucosal blisters, Flexion contracture, Dysphagia, Corneal scarring, Atrophic scars, Narrow m... |
OMIM:226600 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Omphalocele, Respiratory failure, Pulmonary hypoplasia, Long philtrum |
OMIM:617895 |
| Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Ground-glass o... |
ORPHA:99931 |
| Pycnodysostosis |
|
Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl... |
ORPHA:763 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Hyperactivity, Pulmonary lymphangiectasia, Gingival overgrowth, Narrow... |
OMIM:235510 |
| Tularemia |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Pneumonia, Oral ulcer, Pulmona... |
ORPHA:3392 |
| Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Hyperactivity, Inguinal hernia, Thick lower lip vermilion, Cleft palat... |
OMIM:614607 |
| Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:2238 |
| Chand Syndrome |
|
Atelectasis, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenes... |
ORPHA:1401 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Ankle flexion contracture, Micrognathia, Dysphagia, Recurrent lower respiratory trac... |
OMIM:617802 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure, Dysphagia |
OMIM:618637 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Oculoskeletodental Syndrome |
|
Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypoplasia, Retrognathia |
ORPHA:557003 |
| 48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Recurrent respiratory infectio... |
ORPHA:96263 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Inguinal hernia, Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation |
OMIM:620326 |
| Lethal Congenital Contracture Syndrome 2 |
|
Arthrogryposis multiplex congenita, Respiratory failure, Micrognathia |
OMIM:607598 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Bronchiolitis |
OMIM:615993 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Apnea, Pulmonary hypoplasia |
OMIM:615228 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
| Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Omphalocele, Recurrent respiratory infectio... |
ORPHA:2484 |
| Lowry-Maclean Syndrome |
|
Inguinal hernia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High... |
ORPHA:2409 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Prominent superficial veins, Camptodactyly of finger, Cigarette-paper ... |
OMIM:612350 |
| Sjögren-Larsson Syndrome |
|
Urticaria, Erythema, Abnormal dental enamel morphology |
ORPHA:816 |
| Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Oligodontia, Ectodermal dysplasia, Hypodontia |
OMIM:601345 |
| Usher Syndrome Type 1 |
|
Abnormal dental enamel morphology |
ORPHA:231169 |
| Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Cutis marmorata, Gingival overgrowth, Evert... |
OMIM:614753 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... |
ORPHA:884 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Apnea, Hamartoma of tongue, Micrognathia, Unilateral alveolar clef... |
ORPHA:2751 |
| Tetrasomy 5P |
|
Respiratory distress, Pericallosal lipoma, Recurrent respiratory infections, Cyanosis, Micrognath... |
ORPHA:3309 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Apneic episodes precipitated by illness, fatigue, stress, Respiratory failure, Long philtrum |
OMIM:312170 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Elbow contracture, Achilles tendon contracture, Macroglossia, Respiratory failure, Restrictive ve... |
OMIM:606612 |
| Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr... |
ORPHA:454836 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Multiple joint contractures, Micrognathia, Respiratory insufficiency due to muscle... |
OMIM:618291 |
| 49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Recurrent respiratory infections, Abnormal dent... |
ORPHA:96264 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Carious teeth, Stereotypical hand wringing, Dysphagia, Death in adoles... |
OMIM:619229 |
| Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Aplasia... |
ORPHA:289 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... |
ORPHA:2414 |
| Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Death in infancy, Micrognathia, Protruding tongue, Gingival o... |
OMIM:259775 |
| Cranioectodermal Dysplasia |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Taurodontia, Everted lower lip v... |
ORPHA:1515 |
| Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology,... |
ORPHA:1133 |
| Pontocerebellar Hypoplasia Type 1 |
|
Arthrogryposis multiplex congenita, Respiratory failure, Tongue fasciculations, Congenital laryng... |
ORPHA:2254 |
| Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Ground-glass opacification, Dyspnea, Hemo... |
ORPHA:199241 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Dental crowding, Macroglossia, Camptodactyly, High palate, Thick vermi... |
OMIM:616354 |
| Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Cleft upper lip, Hypoplasia ... |
ORPHA:915 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Apnea, Flexion contracture, Elbow flexion contracture, Respiratory failure, Dysp... |
OMIM:617301 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Malar flattening, Amelogenesis imperfecta |
OMIM:614727 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Camptodactyly of finger, Open bite, Abnormality of dental eruption, Dental... |
ORPHA:1327 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
| Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth |
ORPHA:3238 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Peripheral pulmonary artery stenosis, Abnormality of the dentition, Su... |
ORPHA:2712 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Apnea, Micrognathia, Knee flexion contracture, Pulmon... |
ORPHA:85201 |
| Rapp-Hodgkin Syndrome |
|
Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficiency, Small, c... |
OMIM:129400 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Respiratory insuffic... |
ORPHA:70 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Tented upper lip vermilion, Apnea, Micrognathia, Deep phil... |
ORPHA:314655 |
| Coffin-Siris Syndrome 3 |
|
Inguinal hernia, Central diaphragmatic hernia, Cleft palate, Wide mouth, Macroglossia, Delayed er... |
OMIM:614608 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Respiratory distress, Dysphagia |
ORPHA:89844 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, C... |
ORPHA:534 |
| Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
| Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
| Pili Torti, Early-Onset |
|
Enamel hypoplasia |
OMIM:261900 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion... |
ORPHA:1145 |
| Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure, Achilles tendon contracture |
OMIM:604801 |
| Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Ground-glass opacif... |
OMIM:619611 |
| Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Micrognathia |
OMIM:253310 |
| Chronic Mucocutaneous Candidiasis |
|
Recurrent respiratory infections, Abnormal dental enamel morphology, Erythema, Cheilitis, Abnorma... |
ORPHA:1334 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Everted upper lip vermilion, Apnea, Micrognathia, Dysphagia, Everted lower ... |
OMIM:608013 |
| Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Hyperactiv... |
ORPHA:209905 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Carious teeth, Dyspnea, Flexion contracture, Pulmonary infiltrates, P... |
ORPHA:220393 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Ankle flexion contracture, Micrognathia, High, narrow palate, Telangiectasi... |
OMIM:608799 |
| Qazi-Markouizos Syndrome |
|
High, narrow palate, Open mouth, Broad philtrum, Hypoplasia of teeth |
ORPHA:3010 |
| Sandestig-Stefanova Syndrome |
|
Orofacial cleft, Respiratory failure, High palate, Camptodactyly, Retrognathia |
OMIM:618804 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Cleft palate |
ORPHA:66637 |
| Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Macrodontia of perm... |
OMIM:216550 |
| Cole-Carpenter Syndrome 1 |
|
Microdontia, Dentinogenesis imperfecta, Micrognathia |
OMIM:112240 |
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Facial hyperostosis, Delayed eruption of permanent teeth, Broad alveolar r... |
OMIM:218400 |
| Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Enamel hypoplasia, Widely spaced teeth |
OMIM:620193 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
| Momo Syndrome |
|
Delayed eruption of teeth, Cutis marmorata, Thick lower lip vermilion, Dental malocclusion, Tauro... |
OMIM:157980 |
| Synaptic Congenital Myasthenic Syndromes |
|
Mandibular prognathia, Hypoventilation, Respiratory distress, Neonatal respiratory distress, Resp... |
ORPHA:98915 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea |
OMIM:616277 |
| Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Gingival over... |
ORPHA:420561 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev... |
ORPHA:70578 |
| Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:612462 |
| Seckel Syndrome 1 |
|
Hyperactivity, Dental crowding, Selective tooth agenesis, Micrognathia, Dental malocclusion, Elbo... |
OMIM:210600 |
| Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory tr... |
ORPHA:365 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Death in childhood, Natal tooth, Death in infancy, Micrognathia |
OMIM:616901 |
| Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth, Flexion contracture |
OMIM:617105 |
| Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Widely spaced teeth, Respiratory insufficiency |
OMIM:135100 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Camptodactyly, Flexion contracture, Accessory oral frenulum, Hypoplasia of teeth |
ORPHA:88630 |
| Solar Urticaria |
|
Dyspnea, Abnormal tongue morphology, Angioedema, Wheezing, Urticaria, Abnormal lip morphology, De... |
ORPHA:97230 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
| Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the... |
OMIM:170390 |
| Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Recurrent respiratory infections, Tented upper ... |
ORPHA:261494 |
| Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m... |
ORPHA:2107 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Neonatal asphyxia, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Microdontia |
ORPHA:2728 |
| Developmental And Epileptic Encephalopathy 100 |
|
Recurrent respiratory infections, Tented upper lip vermilion, Micrognathia, Protruding tongue, Bi... |
OMIM:619777 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia, Dysphagia |
OMIM:614381 |
| Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:103580 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Respiratory failure, Respiratory insufficiency, Knee flexion contracture |
OMIM:313420 |
| Cole-Carpenter Syndrome 2 |
|
Microretrognathia, High palate, Dentinogenesis imperfecta |
OMIM:616294 |
| Char Syndrome |
|
Persistence of primary teeth, No permanent dentition, Thick vermilion border, Everted lower lip v... |
ORPHA:46627 |
| Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... |
ORPHA:60025 |
| Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent p... |
ORPHA:51636 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Delayed eruption of teeth, Oligodontia, Hypodontia, Dysphagia |
ORPHA:447896 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Pulp calcification, Taurodontia, Enamel hypoplasia |
OMIM:211900 |
| Pycnodysostosis |
|
Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna... |
OMIM:265800 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis |
ORPHA:71277 |
| Meckel Syndrome 14 |
|
Microretrognathia, Cyanosis, Micrognathia, Pneumothorax, Cardiorespiratory arrest, Pulmonary hypo... |
OMIM:619879 |
| Osteoglosphonic Dysplasia |
|
Tooth agenesis, Multiple unerupted teeth, Inguinal hernia, Micrognathia |
ORPHA:2645 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... |
ORPHA:747 |
| Tetanus |
|
Respiratory distress, Trismus, Tachypnea, Dysphagia |
ORPHA:3299 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia |
ORPHA:3145 |
| Tonne-Kalscheuer Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Aggressive behavior, Velopharyngeal insufficiency,... |
OMIM:300978 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Persistence of primary teeth, Carious teeth, Mandibular osteomyelitis, Chr... |
OMIM:259710 |
| Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Recurrent respiratory infections, Sinusitis, Ab... |
ORPHA:1452 |
| Rodrigues Blindness |
|
Ectodermal dysplasia, Tooth malposition, Nasal flaring |
OMIM:268320 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Neonatal death, Natal tooth |
OMIM:609638 |
| Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Thin upper lip vermilion, Natal tooth, Dental crowding, Micrognathia, Pulmonary hypo... |
OMIM:145420 |
| Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... |
ORPHA:95430 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Abnormal dental enamel morphology, High palate, Malar flattening, Cutaneou... |
ORPHA:2180 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Enamel hypomineralization |
ORPHA:494444 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micrognathia, Respiratory insufficiency, Pulmonary hypoplasia, Narrow mouth, Neonatal death, Mala... |
OMIM:224410 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
| Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Malar flattening, Enamel h... |
OMIM:618874 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Recurrent respiratory infections, Death in infancy, Congenital pulmonary airway malf... |
OMIM:243150 |
| Hepatic Veno-Occlusive Disease |
|
Jaundice, Respiratory failure |
ORPHA:890 |
| Acrootoocular Syndrome |
|
Delayed eruption of teeth, Micrognathia, Grayish enamel, High, narrow palate, Supernumerary tooth... |
ORPHA:2980 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Abnormal palate morphology |
ORPHA:3236 |
| Moebius Syndrome |
|
Respiratory distress, Abnormality of the dentition, Micrognathia, High palate, Dysphagia, Arthrog... |
OMIM:157900 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Carious teeth, Hypoplasia of teeth |
OMIM:613312 |
| Usher Syndrome Type 2 |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:231178 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea, Impulsivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Attention... |
OMIM:619580 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Recurrent respiratory infections, Abnormal dental morphology, Abnormal dental enamel morphology, ... |
ORPHA:3253 |
| Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Thin upper lip vermilion, Recurrent respiratory infections, Micrognath... |
OMIM:190350 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress, Delayed eruption of primary teeth, Micrognat... |
OMIM:119600 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Limb joint contracture, Ankle flexion contracture, Micrognathia, Knee flexion contracture, Cyanot... |
ORPHA:284417 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Respiratory failure... |
OMIM:620296 |
| Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Carious teeth, Asthma, Jaundice, Allergic rhinitis |
OMIM:612714 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Advanced eruption of teeth, High palate |
OMIM:262190 |
| Osteogenesis Imperfecta, Type Xi |
|
Dentinogenesis imperfecta |
OMIM:610968 |
| Osteogenesis Imperfecta, Type Xiii |
|
Umbilical hernia, Thin vermilion border, Dentinogenesis imperfecta, Long philtrum |
OMIM:614856 |
| Jalili Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis |
OMIM:217080 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Abnormality of the dentition, Wide mouth, Inappropriate laughter, Enamel hypoplasia, Abnormal rep... |
OMIM:615802 |
| Congenital Diaphragmatic Hernia |
|
Hypoxemia, Pulmonary hypoplasia, Respiratory distress, Congenital diaphragmatic hernia |
ORPHA:2140 |
| Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Inguinal hernia, Asthma, Thick lower lip vermilion, Recurrent pneumoni... |
OMIM:309900 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor, Ectodermal dysplasia |
OMIM:300291 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Tented upper lip vermilion, Pneumonia, Increased connective tis... |
ORPHA:98905 |
| Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... |
OMIM:178500 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... |
ORPHA:50814 |
| Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology |
ORPHA:1782 |
| Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Movement abnormality of the tongue, Open mouth, Dysphagia |
ORPHA:98805 |
| Alopecia Antibody Deficiency |
|
Recurrent respiratory infections, Abnormality of dental color |
ORPHA:1006 |
| Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Dyspnea, Enamel hypoplasia |
ORPHA:94089 |
| Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Abnormal respiratory ... |
ORPHA:60033 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Enamel hypoplasia, Carious teeth |
OMIM:277440 |
| Emanuel Syndrome |
|
Delayed eruption of teeth, Broad jaw, Inguinal hernia, Multiple joint contractures, Dental crowdi... |
ORPHA:96170 |
| Xfe Progeroid Syndrome |
|
Prematurely aged appearance, Absence of subcutaneous fat, Corneal scarring, Death in adolescence,... |
OMIM:610965 |
| Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Prominent superficial veins, Delayed eruption of primary tee... |
OMIM:619322 |
| Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig... |
OMIM:269300 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Fetal Akinesia Deformation Sequence |
|
Multiple joint contractures, Camptodactyly of finger, Micrognathia, Respiratory insufficiency, Cl... |
ORPHA:994 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, Increased connective tissue, Respiratory insufficiency, High pa... |
OMIM:255320 |
| Congenital Myopathy 17 |
|
Mandibular prognathia, Tented upper lip vermilion, Respiratory tract infection, Dental malocclusi... |
OMIM:618975 |
| Ohdo Syndrome |
|
Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Narrow mouth, Smoo... |
OMIM:249620 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Delayed eruption of permanent teeth, Camptodactyly |
OMIM:113000 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Congenital diaphragmatic hernia, Micrognathia, Cleft palate, Bifid uvula |
OMIM:606164 |
| Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Foot joint contracture, Scarring, Delayed eruption of primary teeth, Abnor... |
ORPHA:90321 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Recurrent respiratory infections, Dental crowding, Hypercapnia, Micrognathia, Re... |
ORPHA:2020 |
| Codas Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1458 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Aggressive behavior, Narrow palate, Hypoplasia of teeth, Wide mouth, Short philtrum... |
OMIM:620250 |
| Esophageal Atresia |
|
Respiratory distress, Omphalocele, Recurrent respiratory infections, Cyanosis, Bronchitis, Cleft ... |
ORPHA:1199 |
| Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Dysphagia, ... |
OMIM:607625 |
| Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Malar flattening, Gingival overgrowth, Micrognathia |
OMIM:614592 |
| Cerebellofaciodental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion, Aggressive ... |
OMIM:616202 |
| Temtamy Syndrome |
|
Dental crowding, Micrognathia, Hypoplasia of teeth, Long philtrum, Self-mutilation |
OMIM:218340 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Respiratory failure, Stillbirth, Tongue fasciculations, Death in childhood, Neo... |
OMIM:614922 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Death in early adulthood, Prominent superficial vei... |
OMIM:608612 |
| Scarf Syndrome |
|
Inguinal hernia, Long philtrum, Umbilical hernia, Enamel hypoplasia, Hypocalcification of dental ... |
ORPHA:3134 |
| Odontoonychodermal Dysplasia |
|
Erythema, Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spac... |
OMIM:257980 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Dysphagia, Stridor, Neoplasm of the lung... |
ORPHA:142 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum |
ORPHA:3214 |
| Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Anorexia, Cough |
ORPHA:99825 |
| Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:245660 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Irregular dentition, Hyperactivity, Tented upper lip vermilion, Microg... |
OMIM:619148 |
| Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Unilateral cleft palate, Abnormality of the dentition, Hypoplasia of the m... |
ORPHA:1299 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Omphalocele, Hamartoma of tongue, Cleft lip, Hypoplastic facial b... |
OMIM:616300 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:245400 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Enamel hypoplasia, Retrognathia |
OMIM:614576 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure, Tented upper lip vermilion, Flexion contracture, Narrow palate |
OMIM:616505 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Microretrognathia, Neonatal respiratory distress, Narrow mouth, Flexion contracture, High palate,... |
OMIM:616866 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Restlessness, Inguinal hernia, Flexion contracture, Hypodontia |
ORPHA:544503 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Hyperactivity, Attention deficit hyperactivity disorder, Micrognathia |
ORPHA:73272 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Oligodontia, Jaundice, Hypodontia, Enamel hypoplasia |
OMIM:607626 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Three M Syndrome 2 |
|
Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru... |
OMIM:612921 |
| Achondrogenesis Type 2 |
|
Pierre-Robin sequence, Pulmonary hypoplasia, Cardiorespiratory arrest |
ORPHA:93296 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Scarring alopecia of scalp, Short philtrum, Cleft palate |
OMIM:617337 |
| Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Ground-glass opacification, Dyspnea, Hypersensitivity pneumon... |
ORPHA:133 |
| Immunodeficiency 49 |
|
Natal tooth, Micrognathia, Pulmonary artery stenosis, Short philtrum, Umbilical hernia |
OMIM:617237 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Respiratory failure, Anorexia |
OMIM:619386 |
| Glutamine Deficiency, Congenital |
|
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Flexion contracture, Eryt... |
OMIM:610015 |
| Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... |
OMIM:204690 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Micrognathia, Recurrent pneumonia, Respirator... |
ORPHA:496641 |
| Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:245650 |
| Double Outlet Right Ventricle |
|
Cyanosis, Submucous cleft hard palate, Tachypnea, Cleft palate, Narrow mouth, Pulmonary artery at... |
ORPHA:3426 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Inguinal hernia, Micrognathia, Respiratory insufficiency, Cleft palate, Pul... |
OMIM:608022 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture, Pulmonary hypoplasia |
OMIM:616733 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary hypoplasia |
OMIM:619003 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:264700 |
| Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip |
OMIM:616788 |
| Knobloch Syndrome 2 |
|
Recurrent respiratory infections, Enamel hypoplasia, Abnormal pulmonary interstitial morphology, ... |
OMIM:618458 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Arthrogryposis multipl... |
OMIM:619334 |
| Pallister-Hall-Like Syndrome |
|
Death in infancy, Median cleft lip, Micrognathia, Cleft palate, Pulmonary hypoplasia, Microglossia |
OMIM:241800 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Amelogenesis imperfecta, Pneumonia, Hypocalcification of dental enamel |
ORPHA:169090 |
| Momo Syndrome |
|
Delayed eruption of teeth, Cutis marmorata, Thick lower lip vermilion, Dental malocclusion, Tauro... |
ORPHA:2563 |
| Osteogenesis Imperfecta, Type I |
|
Bruising susceptibility, Dentinogenesis imperfecta |
OMIM:166200 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Inguinal hernia, Abnormality of the dentition, Thick lower lip vermilion, Self-injur... |
ORPHA:261652 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Joint contracture |
OMIM:617977 |
| Aspergillosis |
|
Sinusitis, Pneumonia, Ground-glass opacification, Dyspnea, Asthma, Chronic pulmonary obstruction,... |
ORPHA:1163 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Cutis marmorata, Recurrent intrapulmonary hemorrhage, Abnormal pleura morphology, Asth... |
ORPHA:183 |
| Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis, Dysphagia |
OMIM:150260 |
| Farber Disease |
|
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Flexion contracture, Recurr... |
ORPHA:333 |
| Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Micrognathia, Carious teeth, Trismus, Dyspnea, Elbow flexion contracture, High palate, Narrow mou... |
OMIM:272430 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Erythema, Recurrent pneumo... |
ORPHA:420741 |
| Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia, Cellulitis, Subcutaneous hemorrhage, Pulmonary hemorr... |
ORPHA:238459 |
| Trisomy 9P |
|
Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth |
ORPHA:236 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Impulsivity, Micrognathia, Aggressive behavior, Dental malocclusion, Localized hypoplasia of dent... |
ORPHA:73223 |
| Osteogenesis Imperfecta, Type Iv |
|
Dentinogenesis imperfecta |
OMIM:166220 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Inguinal hernia, Exaggerated cupid's bow, Camptodactyly of finger, Narrow mouth, Dyspnea, Abnorma... |
ORPHA:2215 |
| Cherubism |
|
Jaw swelling, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligod... |
OMIM:118400 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Recurrent respiratory infections, Tented upper lip vermilion, Flexion contr... |
OMIM:619383 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Hyperactivity, Recurrent respiratory infections, Dental crowding, Pneumonia, Impulsi... |
ORPHA:353281 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Micrognathia, Downturned corners of mouth, High palate, Compulsive behavior... |
ORPHA:177907 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
| Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Inguinal hernia, Grayish enamel, Carious teeth, Recurrent pneumonia, Recur... |
OMIM:253000 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Abnormality of the ... |
ORPHA:659 |
| Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Flexion contracture, Long philtrum |
ORPHA:263463 |
| Yellow Nail Syndrome |
|
Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Pleur... |
ORPHA:662 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Omphalocele, Inguinal hernia, Flexion contracture of finger, Exaggerated cupid's bow, Flexion con... |
ORPHA:254528 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Abnormality of the dentition, Micrognathia, Aggressive behavior, Eruption failur... |
ORPHA:476126 |
| Trichothiodystrophy 3, Photosensitive |
|
Carious teeth, Natal tooth, Cutaneous photosensitivity, Eclabion |
OMIM:616395 |
| Marshall Syndrome |
|
Malar flattening, Micrognathia, Absent frontal sinuses, Thick lower lip vermilion, Pierre-Robin s... |
OMIM:154780 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Mandibular aplasia, Microglossia, Respiratory distress, Narrow mouth |
ORPHA:990 |
| Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hip contracture, Tented upper lip vermilion, Dental crowding, Shoulder flex... |
OMIM:620369 |
| Frontometaphyseal Dysplasia 1 |
|
Delayed eruption of teeth, Selective tooth agenesis, Interphalangeal joint contracture of finger,... |
OMIM:305620 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, High palate, Inspiratory stridor, Irregular respiration |
OMIM:604377 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation, Dysphagia |
OMIM:618233 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, High... |
OMIM:220110 |
| Lead Poisoning |
|
Delayed eruption of teeth, Miscarriage, Anorexia, Asthma, Abnormal respiratory system physiology,... |
ORPHA:330015 |
| Eiken Syndrome |
|
Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee... |
OMIM:600002 |
| Geleophysic Dysplasia 3 |
|
Pneumonia, Dyspnea, Respiratory failure, Thick vermilion border, Long philtrum |
OMIM:617809 |
| Adnp Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Inguinal hernia, Oral-pharyngeal dysphagia, Aggre... |
ORPHA:404448 |
| Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Dental crowding, Progeroid facial appearance, Livedo reticularis, D... |
OMIM:620370 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure |
ORPHA:168486 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Immunodeficiency 54 |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
| Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Death in early adulthood, Abnormal dental m... |
ORPHA:192 |
| Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Abnormal soft palate morphology, Dyspnea, Urticaria, Dermatog... |
ORPHA:100050 |
| Severe Congenital Nemaline Myopathy |
|
Increased connective tissue, Flexion contracture, Respiratory failure, Pulmonary hypoplasia, Dysp... |
ORPHA:171430 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Dysphagia |
OMIM:613561 |
| Pachyonychia Congenita 2 |
|
Oral leukoplakia, Natal tooth, Angular cheilitis |
OMIM:167210 |
| Short Syndrome |
|
Delayed eruption of teeth, Prominent superficial veins, Inguinal hernia, Lipodystrophy, Lipoatrop... |
OMIM:269880 |
| Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia |
ORPHA:2050 |
| Cranioectodermal Dysplasia 4 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Thin vermilion border, Taurodontia, Smooth phi... |
OMIM:614378 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Thin upper lip vermilion, Inguinal hernia, Abnormality of the dentition, Cleft palate, Pulmonary ... |
ORPHA:363611 |
| Pitt-Hopkins Syndrome |
|
Aggressive behavior, Hiatus hernia, Wide mouth, Self-injurious behavior, Thick vermilion border, ... |
ORPHA:2896 |
| Hamamy Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Micrognathia, Dental malocclusion, Wide mouth, High pa... |
OMIM:611174 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
| Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Dyspnea, Enamel hypoplasia, Polyphagia |
ORPHA:79444 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia |
ORPHA:240085 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Nonproductive cough, Atelectasis, Rhinitis, Dysphagia, Ecchymosis... |
ORPHA:319213 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperactivity, Reduced intraabdominal adipose tissue, Genera... |
ORPHA:363400 |
| Relapsing Polychondritis |
|
Dyspnea, Atelectasis, Erythema, Recurrent aphthous stomatitis, Cough, Abnormal pattern of respira... |
ORPHA:728 |
| Immunodeficiency 10 |
|
Amelogenesis imperfecta |
OMIM:612783 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou... |
ORPHA:2457 |
| Bone Marrow Failure Syndrome 3 |
|
Hyperactivity, Micrognathia, Oral ulcer, Downturned corners of mouth, Hypodontia, Hernia, Microdo... |
OMIM:617052 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Thin upper lip vermilion, Dorsocervical fat pad, Micrognathia, Hypoplasia of teeth, Downturned co... |
ORPHA:391408 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Natal tooth, Gingival overgrowth, Narrow palate, High palate, Narrow mouth,... |
OMIM:123790 |
| Hennekam Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Abnormal dental morphology, Abnormal... |
ORPHA:2136 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure, Dysphagia |
ORPHA:352447 |
| Trichothiodystrophy |
|
Multiple joint contractures, Prematurely aged appearance, Hypoplasia of mandible relative to maxi... |
ORPHA:33364 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Impulsivity, Micrognathia, High, narrow palate, Abnormality of dental eruption, Wide mouth, Contr... |
ORPHA:96092 |
| Joubert Syndrome 21 |
|
Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Dysphagia, Chronic sinusitis |
OMIM:615636 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Stillbirth, Pulmonary hypoplasia, Neonatal death, Arthrogryposis multiplex con... |
OMIM:236500 |
| Ramos-Arroyo Syndrome |
|
Respiratory distress, Carious teeth, Narrow mouth, Smooth tongue, Long philtrum, Self-mutilation |
ORPHA:1051 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
| De Barsy Syndrome |
|
Delayed eruption of teeth, Recurrent sinopulmonary infections, Inguinal hernia, Lipodystrophy, Pr... |
ORPHA:2962 |
| Emanuel Syndrome |
|
Broad jaw, Recurrent respiratory infections, Inguinal hernia, Dental crowding, Delayed eruption o... |
OMIM:609029 |
| Short Syndrome |
|
Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Abnormality of the dentition, ... |
ORPHA:3163 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Macroglossia, Umbilical hernia, Prolonged neonatal jaundice |
ORPHA:226313 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Hyperactivity, Recurrent respiratory infections, Selective tooth agenesis, Micrognat... |
OMIM:234100 |
| Mercury Poisoning |
|
Respiratory distress, Anorexia, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth... |
OMIM:305100 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Cyanosis, High palate, Micrognathia |
ORPHA:3304 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure, Dysphagia |
ORPHA:70472 |
| 22Q11.2 Deletion Syndrome |
|
Purpura, Inguinal hernia, Abnormal dental enamel morphology, Abnormality of the dentition, Microg... |
ORPHA:567 |
| Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax, Pulmonary infiltrates, Rest... |
ORPHA:538 |
| Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Death in infancy, Abnormality of the dentition, Oligodontia, Microdontia |
ORPHA:2315 |
| Tooth Agenesis, Selective, 4 |
|
Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ... |
OMIM:150400 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
| Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,... |
OMIM:164200 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Ecto... |
OMIM:225500 |
| Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
| Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Open mouth |
ORPHA:950 |
| Tarp Syndrome |
|
Cyanosis, Apnea, Micrognathia, Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Gl... |
ORPHA:2886 |
| Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper... |
ORPHA:819 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enamel hypoplasia |
ORPHA:289157 |
| Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
| Bloom Syndrome |
|
Pneumonia, Bronchitis, Micrognathia, Respiratory tract infection, Adipose tissue loss, Chronic pu... |
ORPHA:125 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology |
ORPHA:3353 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Pulmonary infiltrates, Acute infectio... |
ORPHA:73263 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Lipodystrophy, Cellulitis, Advanced er... |
ORPHA:2348 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Inguinal hernia, Telangiectasia of the skin, Prematurely aged appearance, F... |
ORPHA:3342 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Erosion of oral mucosa, Abnormal oral mucosa morphology, Pneumonia, Dyspnea... |
ORPHA:79404 |
| Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Micrognathia, ... |
OMIM:247200 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress |
ORPHA:26792 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, Cleft ... |
ORPHA:2780 |
| Osteogenesis Imperfecta, Type Xvii |
|
Dentinogenesis imperfecta |
OMIM:616507 |
| Congenital Heart Block |
|
Pleural effusion, Cyanosis, Crackles |
ORPHA:60041 |
| Sarcoidosis, Susceptibility To, 2 |
|
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi... |
OMIM:612387 |
| Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Foot joint contracture, Micrognathia, Dental malocclusion, Alveolar ridge overgr... |
ORPHA:444072 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure, Dysphagia |
OMIM:613954 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Abnormal lung lo... |
OMIM:263210 |
| X-Linked Hypophosphatemia |
|
Odontodysplasia, Enthesitis, Cellulitis, Tooth abscess, Abnormal dentin morphology |
ORPHA:89936 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress, Achilles tendon contracture |
ORPHA:2596 |
| Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Lipodystrophy, Increas... |
ORPHA:199276 |
| Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Malaria |
|
Respiratory distress |
ORPHA:673 |
| Nephronophthisis 2 |
|
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:602088 |
| Hermansky-Pudlak Syndrome |
|
Epistaxis, Abnormal dental enamel morphology, Anorexia, Dyspnea, Pulmonary fibrosis, Bruising sus... |
ORPHA:79430 |
| Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
| Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Narrow palate, Cleft... |
ORPHA:87 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Aggressive behavior |
OMIM:237310 |
| Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent respiratory infections, Deep philtrum, Non-midline ... |
ORPHA:647 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure, Abnormality of the dentition |
ORPHA:88618 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Achilles tendon contracture, Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation |
OMIM:603689 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure |
OMIM:618240 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... |
OMIM:618278 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Thick vermilion border, Everted lower lip vermilion, High palate, Shor... |
OMIM:615866 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Flexion contracture, High palate |
OMIM:271225 |
| Achondroplasia |
|
Respiratory distress, Death in infancy, Upper airway obstruction, Pulmonary hypoplasia, Malar fla... |
OMIM:100800 |
| Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... |
OMIM:614370 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Abnormal dental enamel morphology |
ORPHA:257 |
| Faciocardiomelic Dysplasia, Lethal |
|
Micrognathia, Narrow mouth, Neonatal death, Microglossia, Retrognathia |
OMIM:227270 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis |
ORPHA:444013 |
| Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea, High palate, Retrognathia, Pulmonary edema |
ORPHA:79330 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure, Dysphagia |
OMIM:620166 |
| Dysostosis, Stanescu Type |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplasia of the maxilla, Cario... |
ORPHA:1798 |
| Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Inguinal hernia, Grayish enamel, Carious teeth, Recurrent upper respirator... |
OMIM:253010 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Micrognathia, Deep philtrum, Cleft palate, Malar flattening |
OMIM:610536 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Micrognathia, Pierre-Robin sequence, Cleft p... |
OMIM:217980 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Pulmonary hypoplasia, Micrognathia |
ORPHA:1486 |
| Scarf Syndrome |
|
Umbilical hernia, Enamel hypoplasia, Inguinal hernia, Long philtrum |
OMIM:312830 |
| Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Inguinal hernia, Cleft palate, Restrictive ventilatory defect, Failure of eruption of permanent t... |
OMIM:272460 |
| Corneodermatoosseous Syndrome |
|
Carious teeth, Erythema, Abnormal dental enamel morphology, Gingivitis |
ORPHA:3194 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vaginal hernia, Macrodontia, Abnormal dental enamel morphology, Cleft pala... |
ORPHA:2916 |
| Sanjad-Sakati Syndrome |
|
Recurrent respiratory infections, Abnormal dental enamel morphology, Abnormality of the dentition... |
ORPHA:2323 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, High, nar... |
ORPHA:2554 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, Inguinal hernia, High palate |
OMIM:619272 |
| Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Abnormality of th... |
ORPHA:568 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Dysphagia |
ORPHA:240103 |
| Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency |
OMIM:256000 |
| Sotos Syndrome |
|
Mandibular prognathia, Aggressive behavior, High, narrow palate, Narrow jaw, Narrow palate, High ... |
OMIM:117550 |
| Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Pulmo... |
OMIM:608149 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Micrognathia, Trismus, Recurrent pneumonia, Flexion contracture |
OMIM:616271 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Thick lower lip vermilion, Joint contracture of the 5th finger, Long philtrum |
OMIM:614407 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Oral mucosal blisters, Erythema, Atrophic scars, Smooth tongue, Enamel hypoplasia, Gene... |
ORPHA:79396 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
| Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,... |
OMIM:252100 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Death in infancy, Pulmonary hypoplasia, Death in childhood |
OMIM:614096 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Camptodactyly of finger, Tachypnea, Respiratory failure, Inspiratory stridor, Ventilator dependen... |
OMIM:604320 |
| Kniest Dysplasia |
|
Respiratory distress, Hip contracture, Inguinal hernia, Cleft palate, Umbilical hernia, Tracheoma... |
OMIM:156550 |
| Gapo Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Prematurely aged appearance, Micrognathia, Ever... |
ORPHA:2067 |
| Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormality of dental color, Neonatal respiratory distress, Inguinal h... |
ORPHA:666 |
| Congenital Fibrinogen Deficiency |
|
Bruising susceptibility, Cyanosis, Gingival bleeding, Subcutaneous hemorrhage |
ORPHA:335 |
| Orofaciodigital Syndrome I |
|
Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernu... |
OMIM:311200 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cleft palate, Hypoplasia of t... |
OMIM:607812 |
| Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hemorrhage, C... |
ORPHA:2038 |
| W Syndrome |
|
Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodactyly, Broad uvula, U... |
ORPHA:2804 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Abnormal dental enamel morphology, Cleft upper lip, Cleft palate, Orofacial cleft, Atypical scarr... |
OMIM:601701 |
| Cranioectodermal Dysplasia 3 |
|
Micrognathia, Hypoplasia of teeth, Ectodermal dysplasia, Everted lower lip vermilion, Widely spac... |
OMIM:614099 |
| Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Death in infancy, Apnea, Micrognathia, Carious teeth, Elbow flexion contracture, Pul... |
OMIM:601559 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Limb joint contracture, Flexion contracture, Alveolar ridge overgrowth... |
OMIM:301072 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Neonatal respiratory distress, Apnea, Elbow flexion contracture, Respiratory in... |
OMIM:608836 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Recurrent respiratory infections, Apnea, Premature loss of primary tee... |
ORPHA:667 |
| Bloom Syndrome |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Agenesis of maxillary lateral incis... |
OMIM:210900 |
| Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Omphalocele, Recurrent respiratory infection... |
OMIM:309350 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Cleft palate, Narrow palate, Tooth agenesis, Umbilical hernia, Hypoplasia o... |
ORPHA:1555 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia |
ORPHA:97285 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi... |
ORPHA:1071 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... |
ORPHA:364577 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Miscarriage, Micrognathia, Flexion contracture, Respiratory insufficiency, Cleft palate, Pulmonar... |
ORPHA:1865 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, High palate, Compulsive behaviors, Aspiration, Abnormal repetitive... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, High palate, Compulsive behaviors, Aspiration, Abnormal repetitive... |
ORPHA:353277 |
| Dysosteosclerosis |
|
Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Oligodontia, Absent... |
OMIM:224300 |
| Acrocraniofacial Dysostosis |
|
Advanced eruption of teeth, Short philtrum, Cleft palate, Micrognathia |
ORPHA:949 |
| Osteogenesis Imperfecta, Type Vii |
|
Death in infancy, Hypoplastic pulmonary veins, Absent pulmonary artery, Long philtrum, Dentinogen... |
OMIM:610682 |
| Tibial Muscular Dystrophy |
|
Respiratory failure |
ORPHA:609 |
| Kilquist Syndrome |
|
Mandibular prognathia, Wide mouth, Hypoplasia of teeth |
OMIM:619080 |
| Tricuspid Atresia |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:1209 |
| 3M Syndrome |
|
Delayed eruption of teeth, Everted lower lip vermilion, Abnormal dental enamel morphology, Long p... |
ORPHA:2616 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Stomatitis, Respiratory distress, Pulmonary fibrosis |
OMIM:612852 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... |
OMIM:605711 |
| Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
| Mucopolysaccharidosis Type 4 |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Grayish enamel, W... |
ORPHA:582 |
| Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Dyspnea, Enamel hypoplasia, Polyphagia |
ORPHA:79443 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema |
ORPHA:542323 |
| Celiac Disease, Susceptibility To, 1 |
|
Stomatitis, Enamel hypoplasia, Recurrent aphthous stomatitis |
OMIM:212750 |
| Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow pala... |
OMIM:180849 |
| Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
| Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Dental malocclusion, Pneumonia |
ORPHA:1855 |
| Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Respiratory insufficiency due to muscle weakness, Achilles tendon contracture, F... |
OMIM:310200 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Respiratory failure, Bruising susceptibility |
ORPHA:3226 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Apnea, Dental crowding, Delayed eruption of primary teeth, Aggressive behavior, Widely spaced tee... |
OMIM:617799 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Camptodactyly of finger, Taurodontia, Abnormal dental enamel morphology, Abnormality of the denti... |
ORPHA:3220 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Micrognathia, Abnormality of the dentition, High, narrow palate, Supernumerary tooth... |
ORPHA:2108 |
| Arboleda-Tham Syndrome |
|
Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Respiratory distress, Neonata... |
OMIM:616268 |
| Double Outlet Left Ventricle |
|
Pulmonary artery stenosis, Cyanosis, Tachypnea, Orofacial cleft |
ORPHA:3427 |
| Osteogenesis Imperfecta, Type Viii |
|
Inguinal hernia, Dentinogenesis imperfecta |
OMIM:610915 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Enamel hypoplasia |
OMIM:240300 |
| Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Crackles, Ground-glass opacification, Respiratory tract infection, Dysp... |
ORPHA:79128 |
| Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Inguinal hernia, Pneumonia, Carious teeth, Flexion contracture, Recurr... |
OMIM:253200 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Carious teeth, Dyspnea, Premature graying of hair, Interstitial pneumonitis, Pulmonary fibrosis, ... |
OMIM:127550 |
| Spinocerebellar Ataxia Type 1 |
|
Respiratory failure, Dysphagia |
ORPHA:98755 |
| Doors Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Short lingual frenulum, Abnormality of the dentit... |
ORPHA:79500 |
| Renal Hypodysplasia/Aplasia 1 |
|
Retrognathia, Pulmonary hypoplasia |
OMIM:191830 |
| Cockayne Syndrome A |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Hip contracture, Prematurely aged app... |
OMIM:216400 |
| Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Prominent superficial veins, Dyspnea, Gingival overgrowth, Prominent median... |
ORPHA:363705 |
| Oslam Syndrome |
|
Carious teeth |
ORPHA:2760 |
| Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Thick lo... |
ORPHA:1465 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Respiratory failure requiring assisted ventilation, Deep philtrum, Hig... |
ORPHA:1675 |
| Multiple Pterygium Syndrome, X-Linked |
|
Cleft upper lip, Micrognathia, Flexion contracture, Cleft palate, Pulmonary hypoplasia |
OMIM:312150 |
| Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
| Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Lipodystrophy, Micrognathia, Hypoplasia of the ... |
OMIM:209885 |
| Seckel Syndrome |
|
Tooth agenesis, Prematurely aged appearance, Abnormal dental enamel morphology, Micrognathia |
ORPHA:808 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Congenital diaphragmatic hernia, Micrognathia, Morgagni diaphragmatic herni... |
OMIM:613309 |
| Amyotrophic Lateral Sclerosis |
|
Dyspnea, Respiratory failure, Agitation, Abnormal respiratory system physiology |
ORPHA:803 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Re... |
OMIM:617303 |
| Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... |
ORPHA:37553 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Recurrent respiratory infections, Abnormality of the dentition, Cleft palat... |
OMIM:300968 |
| Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Respiratory distress, Inguinal hernia, Camptoda... |
OMIM:166250 |
| Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Abnormal dental enamel morphology, Micrognathia,... |
ORPHA:439822 |
| Vacterl Association With Hydrocephalus |
|
Respiratory failure, Stillbirth, Respiratory insufficiency |
OMIM:276950 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Loss of subcutaneous adipose tissue in limbs, Lipodystrophy,... |
ORPHA:280365 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Microdontia, Enamel hypoplasia, Retrognathia |
OMIM:210720 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Telangi... |
ORPHA:464 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Prominent scalp veins, Inguinal hernia, Cutis marmorata, Micrognathia, Abn... |
OMIM:151050 |
| Treacher-Collins Syndrome |
|
Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, H... |
ORPHA:861 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, Aggressive behavior, High, n... |
ORPHA:369950 |
| Cranioectodermal Dysplasia 1 |
|
Recurrent respiratory infections, Inguinal hernia, High, narrow palate, Ectodermal dysplasia, Hig... |
OMIM:218330 |
| Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Long philtrum |
ORPHA:50810 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Pierre-Robin sequence, Cleft palate, Restrictive ventilatory defect, Malar ... |
OMIM:183900 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Macroglossia, Pleural effusion, Pulmonary edema |
OMIM:261740 |
| Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Exaggerated cupid's bow, Anorexia, Oral-pharyngeal dysphagia, Aggres... |
ORPHA:2131 |
| Goodpasture Syndrome |
|
Cyanosis, Crackles, Nodular pattern on pulmonary HRCT, Ground-glass opacification, Increased DLCO... |
OMIM:233450 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cough |
ORPHA:86812 |
| Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Recurrent sinopulmonary infections, Inguinal hernia, Lipodystrophy, Ca... |
ORPHA:2834 |
| Opitz Gbbb Syndrome |
|
Omphalocele, Natal tooth, Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Cleft l... |
ORPHA:2745 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Death in infancy, Micrognathia, Pierre-Robin sequence, Flexion contracture, Ging... |
OMIM:300868 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Supernumerary tooth, Hypoplasia o... |
OMIM:268400 |
| Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
| Codas Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Omphalocele |
OMIM:600373 |
| Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Dental crowding, Abnormality of the d... |
ORPHA:769 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Retrognathia, Hypoplasia of teeth |
OMIM:234050 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Micrognathia, Gingival overgrowth, Respiratory failure, Stillbirth, Long philtrum |
OMIM:259720 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
| Barber-Say Syndrome |
|
Delayed eruption of teeth, Wide mouth |
ORPHA:1231 |
| Usher Syndrome |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:886 |
| Metatropic Dysplasia |
|
Arthrogryposis multiplex congenita, Respiratory failure, Flexion contracture, Respiratory insuffi... |
OMIM:156530 |
| Chiari Malformation Type Ii |
|
Cyanosis, Inspiratory stridor, Dysphagia |
OMIM:207950 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79403 |
| Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Protruding tongue, Micrognathia, Pulmonary hypoplasia, Long philtrum, Malar flattening |
ORPHA:50945 |
| Cornelia De Lange Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Cutis marmorata, Pneumonia,... |
OMIM:122470 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Angiokeratoma, Gingival fibromatosis, Narrow palate, Telangiectasia |
OMIM:266270 |
| Osteopathia Striata With Cranial Sclerosis |
|
Omphalocele, Natal tooth, Paranasal sinus hypoplasia, Dental crowding, Apnea, Micrognathia, Cleft... |
OMIM:300373 |
| Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... |
OMIM:200990 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... |
OMIM:615512 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Pulmonary artery hypoplasia, Cyanosis, Short lingual frenulum, Cleft palate |
ORPHA:2326 |
| Digeorge Syndrome |
|
Inguinal hernia, Femoral hernia, Micrognathia, High, narrow palate, Asthma, Chronic pulmonary obs... |
OMIM:188400 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy, Micrognathia, Hypoplasia of the maxilla, Flexion contract... |
OMIM:224690 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Micrognathia, Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Pulmonary hypopla... |
OMIM:619708 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Thin upper lip vermilion, Recurrent pneumonia, Recurrent upper respiratory ... |
OMIM:607143 |
| Kabuki Syndrome 2 |
|
Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Cleft palate, High palate, Hypodontia |
OMIM:300867 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Cutis marmorata, Velopharyngeal insufficiency, Submucous cleft hard pal... |
OMIM:614701 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Central hypoventilation, Aggressive behavior, Asthma, Recurrent upper ... |
ORPHA:293987 |
| Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Agenesis of pulmonary vessels, Al... |
OMIM:601186 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Thin upper lip vermilion, High, narrow palate, Submucous cleft hard palate,... |
OMIM:612863 |
| Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno... |
ORPHA:555874 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Pulmonary hypoplasia, Micrognathia |
ORPHA:3035 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Recurrent upper respiratory tract infections, Gingival overgrowth, Pan... |
ORPHA:508542 |
| Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Prominent superficial veins, Flexion contracture of finger, Prematurel... |
OMIM:601812 |
| Alg1-Cdg |
|
Respiratory failure |
ORPHA:79327 |
| Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Telangiectasia of the skin, Abnormal dental enamel morphology, Selecti... |
ORPHA:2909 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Cleft palate, High palate, Tracheomalacia, Malar flattening |
ORPHA:93259 |
| Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Polyphagia, Abnormal dental enamel morphology |
ORPHA:251004 |
| Koolen-De Vries Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the dentition, High, narrow palate, Narrow pala... |
ORPHA:96169 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Palmoplantar cutis laxa... |
OMIM:616482 |
| Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Abnormal zygomatic ... |
ORPHA:2769 |
| Absence Of The Pulmonary Artery |
|
Orthopnea, Recurrent respiratory infections, Cyanosis, Abnormal pulmonary thoracic imaging findin... |
ORPHA:980 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Micrognathia, Flexion contracture, Cleft palate, Unilateral cleft lip, Pulmonary hypoplasia, Pleu... |
OMIM:616897 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Cutis marmorata, Abnormality of the dentition, Micrognathia, Asthma, S... |
ORPHA:235 |
| Otopalatodigital Syndrome, Type I |
|
Omphalocele, Selective tooth agenesis, Absent frontal sinuses, Cleft palate, Multiple impacted te... |
OMIM:311300 |
| Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... |
ORPHA:563 |
| Afibrinogenemia, Congenital |
|
Death in infancy, Epistaxis, Death in adolescence, Gingival bleeding, Death in childhood, Neonata... |
OMIM:202400 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased sensitivity to hypoxemia, Acrocyanosis, Hypogeusia, Recurrent infections due to aspiration |
OMIM:223900 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Cleft palate, Hypoplasia of the zygomatic bon... |
ORPHA:1812 |
| Cenani-Lenz Syndrome |
|
Abnormal dental enamel morphology, High, narrow palate, Short philtrum, Hypodontia, Malar flattening |
ORPHA:3258 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Jaundice, Pulmonary hypoplasia, Neonatal death |
OMIM:231680 |
| Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max... |
OMIM:211380 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
| Carpenter Syndrome 1 |
|
Omphalocele, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Agenesis of p... |
OMIM:201000 |
| Granulomatous Disease, Chronic, X-Linked |
|
Cough, Atelectasis, Recurrent pneumonia, Air bronchogram, Cellulitis, Pleural effusion |
OMIM:306400 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure |
OMIM:610678 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Flexion contracture, Pulmonary hypoplasia, Cleft palate, Micrognathia |
OMIM:253290 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Loss of subcutaneous adipose tissue in limbs, Dental crowdin... |
OMIM:248370 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Cleft palate, Pulmonary hypoplasia, Ne... |
OMIM:617925 |
| Fucosidosis |
|
Lipoatrophy, Acrocyanosis, Vascular skin abnormality, Abnormality of the dentition |
ORPHA:349 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Neonatal respiratory distress, Multiple joint contractures, Inguinal hernia, Congenital diaphragm... |
OMIM:265000 |
| Mgat2-Cdg |
|
Respiratory distress, Dental crowding, Recurrent upper and lower respiratory tract infections, Op... |
ORPHA:79329 |
| Costello Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Thick lower lip vermilion, Narro... |
ORPHA:3071 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
| Hutchinson-Gilford Progeria Syndrome |
|
Delayed eruption of teeth, Prominent superficial blood vessels, Cyanosis, Short lingual frenulum,... |
ORPHA:740 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Congenital diaphragmatic hernia, Cleft uppe... |
OMIM:612530 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Pneumonia, Respiratory tract infection, Tachypnea, Ce... |
ORPHA:36234 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Spontaneous pneumothorax, Micrognathia, Jaundice, Recurrent pneumonia, Respirato... |
ORPHA:731 |
| Familial Adenomatous Polyposis 1 |
|
Carious teeth, Supernumerary tooth, Eruption failure, Multiple lipomas, Odontoma, Keloids |
OMIM:175100 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth, Flexion con... |
ORPHA:79408 |
| Marden-Walker Syndrome |
|
Inguinal hernia, Micrognathia, High, narrow palate, Cleft palate, Congenital contracture, High pa... |
OMIM:248700 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Anorexia |
ORPHA:79312 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Delayed eruption of permanent teeth, Tented upper lip vermilion, Short phi... |
ORPHA:521445 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis, Tachypnea, Anomalous pulmonary venous return |
ORPHA:860 |
| Alg3-Cdg |
|
Lipodystrophy, Macroglossia, High palate, Pulmonary hypoplasia, Arthrogryposis multiplex congenit... |
ORPHA:79321 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Hyperactivity, Orofacial cleft, Na... |
ORPHA:77301 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood |
OMIM:615597 |
| Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Abnormal dental morphology, Abnormal dental enamel morphology, Tela... |
ORPHA:2092 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Short uvula, Cleft palate, Agenesis of permanent teeth, Fused teeth, High... |
OMIM:614091 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Apnea, Micrognathia, Deep philtrum, Flexion contracture, ... |
OMIM:619503 |
| Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Cario... |
ORPHA:221008 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Bradypnea, Respiratory failure, Restlessness, Death in childhood |
OMIM:617186 |
| Hsd10 Disease, Infantile Type |
|
Restlessness, Cyanosis, Paroxysmal bursts of laughter, Dysphagia |
ORPHA:391428 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Erythema, ... |
OMIM:614748 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Death in childhood, Respiratory failure, Dysphagia |
OMIM:619847 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Inguinal hernia, Prematurely aged appearance, Progeroid facial appearance, Poor wound healing, Dy... |
OMIM:123700 |
| Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... |
ORPHA:1329 |
| Serkal Syndrome |
|
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Orofacial cleft |
ORPHA:139466 |
| Good Syndrome |
|
Recurrent respiratory infections, Sinusitis, Cough, Dyspnea, Bronchiectasis, Dysphagia |
ORPHA:169105 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Microgn... |
ORPHA:2556 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v... |
OMIM:300896 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Omphalocele, Thin upper lip vermilion, Recurrent respiratory infections, Exaggerated cupid's bow,... |
OMIM:618316 |
| Campomelic Dysplasia |
|
Respiratory distress, Irregular dentition, Neonatal respiratory distress, Apnea, Micrognathia, Ca... |
OMIM:114290 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Natal tooth, Gingival overgrowth, Micrognathia |
ORPHA:313855 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Widely spaced teeth, Compulsive behaviors, Microdontia, Advance... |
OMIM:615873 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Agitation, Abnormal repetitive mannerisms |
ORPHA:927 |
| Tuberous Sclerosis 1 |
|
Dental enamel pits, Gingival fibromatosis, Shagreen patch, Attention deficit hyperactivity disord... |
OMIM:191100 |
| Nail-Patella Syndrome |
|
Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex... |
ORPHA:2614 |
| Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... |
ORPHA:99106 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Dental malocclusion,... |
OMIM:101800 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Abnormal lung morphology, U... |
ORPHA:141127 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defect, Respiratory failure, Dysphagia |
ORPHA:26791 |
| Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... |
ORPHA:90051 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Hip contracture, Interphalangeal joint contracture of finger, Ankle fl... |
OMIM:259600 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Neonatal respiratory distress, Protruding tongue, Micrognathia, High, narrow palate, Dysphagia, D... |
OMIM:214100 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Hypoplasia of the tooth germ... |
ORPHA:293967 |
| Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Respiratory distress, Inguinal hernia, Micrognathia, Abnormality of th... |
ORPHA:798 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Inguinal hernia, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teet... |
ORPHA:2250 |
| Primary Hyperoxaluria |
|
Cutis marmorata, Abnormality of the dentition, Rootless teeth, Abnormal dental pulp morphology, A... |
ORPHA:416 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure, Tongue fascicu... |
OMIM:252010 |
| Histiocytoid Cardiomyopathy |
|
Cyanosis, Tachypnea, Cleft palate, Cough, Pulmonary edema |
ORPHA:137675 |
| Microcephaly-Micromelia Syndrome |
|
Micrognathia, Cleft palate, Pulmonary hypoplasia, Narrow mouth, Neonatal death |
OMIM:251230 |
| Keppen-Lubinsky Syndrome |
|
Tented upper lip vermilion, Lipodystrophy, Progeroid facial appearance, Micrognathia, Dyspnea, Re... |
ORPHA:435628 |
| 1Q41Q42 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Submucous cleft hard palate, Cleft palate, Thick vermilion borde... |
ORPHA:250999 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Dysphagia, Neonatal death, Resp... |
OMIM:617248 |
| Ethylene Glycol Poisoning |
|
Cyanosis, Tachypnea, Episodic respiratory distress, Addictive alcohol use, Abnormal pattern of re... |
ORPHA:31826 |
| Myotonic Dystrophy 1 |
|
Respiratory distress, Obsessive-compulsive trait, Dysphagia |
OMIM:160900 |
| Platyspondylic Dysplasia, Torrance Type |
|
Malar flattening, Pulmonary hypoplasia, Cleft palate |
ORPHA:85166 |
| Nocardiosis |
|
Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo... |
ORPHA:31204 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Erythema, Urticaria, Recurrent aphthous stomatitis, Acrocyanosis, Purpura |
ORPHA:343 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Stridor, Respiratory failure, Intercostal muscle weakness |
OMIM:606071 |
| Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De... |
OMIM:610829 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Cleft palate, Wide m... |
ORPHA:85199 |
| Gapo Syndrome |
|
Prominent scalp veins, Micrognathia, High, narrow palate, Thick lower lip vermilion, Eruption fai... |
OMIM:230740 |
| Smith-Lemli-Opitz Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Cutis marmorata, Micrognathia, Con... |
ORPHA:818 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Hyperactivity, Inguinal hernia, Micrognathia, Carious teeth, Velophary... |
OMIM:223370 |
| Letterer-Siwe Disease |
|
Stomatitis, Dyspnea, Jaundice, Pulmonary infiltrates |
OMIM:246400 |
| Lethal Congenital Contracture Syndrome 9 |
|
Thin upper lip vermilion, Elbow extension contracture, Micrognathia, Flexion contracture, Cardior... |
OMIM:616503 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal dental enamel morphology |
ORPHA:1005 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea |
OMIM:261680 |
| Rothmund-Thomson Syndrome Type 2 |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Cario... |
ORPHA:221016 |
| Kindler Epidermolysis Bullosa |
|
Abnormal dental enamel morphology, Premature loss of primary teeth, Camptodactyly of finger, Cari... |
ORPHA:2908 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Anorexia |
ORPHA:79242 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Delayed eruption of teeth, Violent behavior, Inguinal hernia, Peripheral pulmonary artery stenosi... |
OMIM:280000 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth, Pulmonary hypoplasia |
OMIM:151210 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Micrognathia, Pneumothorax, Respiratory failure, Thin vermilion border, Hig... |
ORPHA:3404 |
| Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Congenital diaphragmatic hernia, Micrognathia, Abnormal lung lo... |
ORPHA:958 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Neonatal respiratory distress, Inguinal hernia, Camptodactyly of finger, Micrognathia, Abnormalit... |
ORPHA:2990 |
| Boutonneuse Fever |
|
Respiratory failure, Petechiae |
ORPHA:83313 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Median cleft lip, Accessory oral frenulum, Supernumerary tooth, Hypodontia |
OMIM:617088 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Inguinal hernia, Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency... |
OMIM:613658 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:187300 |
| Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Abnormality of the dentition, Carious teeth, Ena... |
ORPHA:2363 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Respiratory failure, Pneumothorax |
ORPHA:445038 |
| Scimitar Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Pneumothorax, P... |
ORPHA:185 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... |
ORPHA:99050 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... |
OMIM:610655 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Scarring, Conical tooth, Erythema, Oligodontia, Hypodontia |
OMIM:308300 |
| Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Recurrent respiratory infections, Hypoplasia of the maxilla, Carious te... |
OMIM:182250 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa... |
OMIM:300990 |
| Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Micrognathia, Narrow palate, Macroglossia, High palate, Pulmonary hypoplasia, Long p... |
OMIM:617022 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Delayed eruption of primary teeth |
OMIM:300952 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... |
ORPHA:99104 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
| Myhre Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Hypoplasia of the maxilla, Cleft lip, Cleft pala... |
OMIM:139210 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
| Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia, High palate, Cleft palate |
ORPHA:93260 |
| Dravet Syndrome |
|
Obsessive-compulsive trait, Cyanotic episode, Impulsivity |
ORPHA:33069 |
| Restrictive Dermopathy 1 |
|
Natal tooth, Prominent superficial blood vessels, Limb joint contracture, Micrognathia, Submucous... |
OMIM:275210 |
| Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Gingival fibromatosis, Dow... |
OMIM:135500 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ... |
ORPHA:96334 |
| Pallister-Hall Syndrome |
|
Natal tooth, Cleft upper lip, Abnormal lung lobation, Cleft palate, Neonatal death, Microglossia |
OMIM:146510 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Enamel hypomineralization |
OMIM:307800 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
| Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
| Oculodentodigital Dysplasia |
|
Mandibular prognathia, Median cleft lip, Abnormal dental enamel morphology, Premature loss of pri... |
ORPHA:2710 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Generalized abnormality of skin, Flexion contracture, Respiratory insuffici... |
ORPHA:367 |
| Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Abnormal dental morphology, Delayed eruption of primary teet... |
ORPHA:191 |
| Cockayne Syndrome Type 3 |
|
Carious teeth, Flexion contracture, Premature graying of hair, Enamel hypoplasia, Cutaneous photo... |
ORPHA:90324 |
| Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Micrognathia, Aplasia of the left hemidiaphragm, High palate... |
ORPHA:2437 |
| Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Camptodactyly of finger, Abnormality of the dentition, Trismus, Asth... |
ORPHA:3206 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Respiratory tract infectio... |
ORPHA:805 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
| Isolated Arrhinia |
|
Respiratory distress, Hypoplasia of the nasal bone |
ORPHA:1134 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Flexion contracture, Stridor, Macroglossi... |
ORPHA:505248 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Natal tooth, Recurrent respiratory infections, Microgna... |
OMIM:620186 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:2141 |
| Pericardial And Diaphragmatic Defect |
|
Neonatal respiratory distress, Congenital diaphragmatic hernia, Hypoxemia, Aplasia of the left he... |
ORPHA:2847 |
| Gardner Syndrome |
|
Abnormality of the dentition, Supernumerary tooth, Odontoma, Multiple unerupted teeth, Lipoma, Ke... |
ORPHA:79665 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Persistence of primary teeth, Micrognathia, Abnormality of the dentition, Thick lower lip vermili... |
ORPHA:2785 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital diaphragmatic hernia, Cleft lip, Pulmonary artery stenosis, Cleft palate, Bilateral lu... |
OMIM:611812 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Short lingual frenulum, Den... |
OMIM:180700 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Scarring, Abnormality of the dentition, Carious teeth, A... |
ORPHA:158668 |
| Distal Triplication 15Q |
|
Micrognathia, Flexion contracture, High palate, Pulmonary hypoplasia, Hernia, Camptodactyly, Retr... |
ORPHA:314588 |
| Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
| Toxic Epidermal Necrolysis |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Cough, Erythe... |
ORPHA:537 |
| Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
| Oligomeganephronia |
|
Branchial cyst, Pulmonary venous occlusion, Congenital diaphragmatic hernia, Micrognathia, Pulmon... |
ORPHA:2260 |
| Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Thick upper lip vermilion, Medi... |
OMIM:612651 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Pulmonary hypoplasia |
OMIM:618174 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Recurrent respiratory infections, Apnea, Aggressive behavior, Flexion contr... |
ORPHA:17 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Respiratory insufficiency, Knee flexion contracture |
OMIM:617239 |
| Shwachman-Diamond Syndrome |
|
Delayed eruption of teeth, Sinusitis, Pneumonia, Carious teeth, Oral ulcer |
ORPHA:811 |
| Stickler Syndrome |
|
Recurrent respiratory infections, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of ... |
ORPHA:828 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax, Pulmonary hypoplasia |
OMIM:620306 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Death in infancy, Respiratory failure |
OMIM:614862 |
| Tetrasomy 9P |
|
Hyperactivity, Median cleft lip and palate, Dental crowding, Abnormal dental enamel morphology, M... |
ORPHA:3310 |
| Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Anorexia, Respiratory failure, Agitation, Dys... |
ORPHA:2912 |
| Robinow Syndrome |
|
Dental crowding, Persistence of primary teeth, Micrognathia, Dental malocclusion, Gingival overgr... |
ORPHA:97360 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Carious teeth, Calvarial osteosclerosis, Persistence of primary teeth |
ORPHA:93325 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Pneumonia, Episodic tachypnea, Jaundice, Tachypnea |
ORPHA:26793 |
| Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Flexion contracture |
OMIM:618201 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Neonatal respiratory distress, Micrognathia, Aortopulmonary window, Pulmonary artery hypoplasia, ... |
OMIM:620025 |
| Costello Syndrome |
|
Micrognathia, Achilles tendon contracture, Thick lower lip vermilion, Pneumothorax, Respiratory i... |
OMIM:218040 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Inguinal hernia, Paranasal sinus hypoplasia, Cleft lip, Dental malocclusion, Cleft palate, Hypopl... |
OMIM:603457 |
| Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3032 |
| Thanatophoric Dysplasia |
|
Pulmonary hypoplasia, Respiratory insufficiency |
ORPHA:2655 |
| Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Restlessness, Recurrent respiratory infections, Oral-pharyngeal dysphagia, ... |
OMIM:615273 |
| Kindler Syndrome |
|
Telangiectasia of the skin, Carious teeth, Gingivitis, Periodontitis, Oral leukoplakia, Dysphagia... |
OMIM:173650 |
| Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition |
ORPHA:2036 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Agitation, Cough, Ecchy... |
ORPHA:340 |
| Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Dental malocclusion, Cleft palate, Narrow palat... |
OMIM:101200 |
| Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
| Cockayne Syndrome B |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Prematurely aged appearance, Delayed ... |
OMIM:133540 |
| Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
ORPHA:3033 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress |
OMIM:212140 |
| Malignant Atrophic Papulosis |
|
Pleural effusion, Telangiectasia of the skin, Respiratory failure |
ORPHA:679 |
| Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
| Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Flexion contracture, Downturned corners of mouth, Prematurely aged appearance, Abse... |
OMIM:264090 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
| Sarcoidosis, Susceptibility To, 1 |
|
Anorexia, Dyspnea, Emphysema, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmona... |
OMIM:181000 |
| Atelosteogenesis Type I |
|
Pulmonary hypoplasia, Cleft palate, Micrognathia |
ORPHA:1190 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Inguinal hernia, Micrognathia, Contracture of the distal interphalangeal jo... |
ORPHA:83617 |
| Isolated Atp Synthase Deficiency |
|
Respiratory distress |
ORPHA:254913 |
| Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Anorexia, Carious teeth, Abnormal subcutaneous fat tissue distribution... |
ORPHA:1328 |
| Mosaic Trisomy 1 |
|
Microretrognathia, Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Thick l... |
ORPHA:1692 |
| Orofaciodigital Syndrome Type 1 |
|
Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Micrognathia, Open ... |
ORPHA:2750 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Epistaxis, Carious teeth, Oral ulcer, Gingivitis, Delayed eruption of permanent teeth, Periodonti... |
ORPHA:79259 |
| Atelosteogenesis Type Ii |
|
Thin upper lip vermilion, Bilateral cleft palate, Micrognathia, Elbow flexion contracture, Cleft ... |
ORPHA:56304 |
| Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
| Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, High, narrow palate, Oligodontia, Microdontia, Neonatal deat... |
OMIM:612289 |
| Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure |
ORPHA:206436 |
| Fraser Syndrome 2 |
|
Respiratory failure, Narrow mouth |
OMIM:617666 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Microretrognathia, Thin upper lip vermilion, Respiratory distress, Hyperactivity,... |
ORPHA:508488 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Amelogenesis imperfecta |
OMIM:248190 |
| Caudal Regression Syndrome |
|
Impulsivity, Pulmonary hypoplasia, Orofacial cleft |
ORPHA:3027 |
| Fryns Syndrome |
|
Omphalocele, Tented upper lip vermilion, Median cleft lip, Congenital diaphragmatic hernia, Micro... |
ORPHA:2059 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
| Cocaine Intoxication |
|
Respiratory distress, Pulmonary edema, Diffuse alveolar hemorrhage, Wheezing, Tachypnea, Pneumoth... |
ORPHA:90068 |
| Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
| Q Fever |
|
Respiratory distress, Pneumonia, Anorexia, Abnormal pulmonary interstitial morphology, Cough, Ple... |
ORPHA:781 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Thin upper lip vermilion, Inguinal hernia, Tented upper lip vermilion, Dental crowding, Micrognat... |
OMIM:268310 |
| Wrinkly Skin Syndrome |
|
Microretrognathia, Delayed eruption of teeth, Inguinal hernia, Progeroid facial appearance, Cario... |
OMIM:278250 |
| Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Pseudobulbar paralysis |
ORPHA:268943 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Cutis marmorata, Pulmonary embolism, Dyspnea, Angioedema, Asthma, Dysphagia... |
ORPHA:3260 |
| Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Micrognathia, Trismus, Submucous cleft hard palate, Flexion contract... |
ORPHA:2671 |
| Thanatophoric Dysplasia, Type I |
|
Neonatal death, Neonatal respiratory distress, Pulmonary hypoplasia |
OMIM:187600 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Micrognathia, Dyspnea, Submucous cleft hard palate, Cleft palate, Respiratory failure, Thick verm... |
ORPHA:2636 |
| Coffin-Lowry Syndrome |
|
Mandibular prognathia, Inguinal hernia, Cutis marmorata, Thick lower lip vermilion, Dental malocc... |
OMIM:303600 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Aggressive behavior, Asthma, Nasal flaring, Downturned corners of mouth... |
ORPHA:466943 |
| Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Aggressive behavior, Corneal scarring, Keloids, Enamel hypoplasia, Joint... |
OMIM:309000 |
| Niemann-Pick Disease Type C |
|
Aggressive behavior, Jaundice, Abnormal lung morphology, Respiratory insufficiency, Dysphagia, Pu... |
ORPHA:646 |
| Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Camptodactyly of finger, Micrognathia, Hypoplastic frontal sinuses, Pierre-Robin seq... |
ORPHA:90652 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Respiratory failure, Limb joint contracture |
OMIM:620327 |
| Dermatomyositis |
|
Recurrent respiratory infections, Telangiectasia of the skin, Erythema, Abnormal pulmonary inters... |
ORPHA:221 |
| Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Cleft u... |
OMIM:305600 |
| Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtrum, ... |
ORPHA:1519 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Inguinal hernia, Prematurely aged appearance, Abnormal dental enamel morph... |
ORPHA:2658 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood |
OMIM:610505 |
| Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Chylothorax, Pulmonary edema |
OMIM:617300 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Epistaxis, Aplasia of the right hemidiaphragm, M... |
OMIM:619841 |
| Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:267430 |
| Poems Syndrome |
|
Lipodystrophy, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, ... |
ORPHA:2905 |
| Japanese Encephalitis |
|
Respiratory distress, Pulmonary edema, Anorexia, Elbow flexion contracture, Respiratory paralysis... |
ORPHA:79139 |
| Leigh Syndrome |
|
Respiratory failure, Multiple joint contractures, Abnormal pattern of respiration, Dysphagia |
ORPHA:506 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Jaundice, Stomatitis, Pulmonary arterial hypertension, ... |
ORPHA:79282 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Tooth abscess, Enthesitis |
ORPHA:289176 |
| Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea, Pulmonary edema |
OMIM:115197 |
| Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Recurrent respiratory infections, Dental crowdin... |
OMIM:618371 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Neonatal respiratory distress, Miscarriage, Respiratory infections in early life, Contractures of... |
ORPHA:96179 |
| Familial Adenomatous Polyposis |
|
Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Lipoma, Abnormal c... |
ORPHA:733 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Hypoplasia of the maxilla, Cleft palate, Downturned corners of mouth, R... |
ORPHA:500150 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Eec Syndrome |
|
Abnormal dental enamel morphology, Carious teeth, Cleft palate, Orofacial cleft, Tooth agenesis, ... |
ORPHA:1896 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Congenital diaphragmatic hernia, Micrognathia, Cleft palate, Thin vermilion border, High palate, ... |
OMIM:614080 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor |
OMIM:615595 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure |
ORPHA:280210 |
| Myasthenia Gravis |
|
Dyspnea, Acrocyanosis, Dysphagia |
ORPHA:589 |
| Ogden Syndrome |
|
Apnea, Micrognathia, Deep philtrum, Short philtrum, High palate, Aspiration, Thick upper lip verm... |
OMIM:300855 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:746 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Dysphagia, Aggressive behavior |
ORPHA:488627 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion |
ORPHA:292 |
| Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Submucous cleft har... |
OMIM:300166 |
| Cryptococcosis |
|
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Cough, Pleural effusion |
ORPHA:1546 |
| Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
| Peters-Plus Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Exaggerated cupid's bow, C... |
OMIM:261540 |
| Coffin-Siris Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Recurrent respiratory infec... |
OMIM:135900 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, C... |
OMIM:268305 |
| Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup... |
OMIM:614188 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Chronic lung disease, P... |
ORPHA:95455 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618329 |
| Listeriosis |
|
Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure |
ORPHA:533 |
| Meckel Syndrome, Type 1 |
|
Omphalocele, Thin upper lip vermilion, Natal tooth, Camptodactyly of finger, Cleft upper lip, Mic... |
OMIM:249000 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Cleft upper lip, Micrognathia, Erythema, Flexion contracture, Stillbirth, Pulmonary hypoplasia, U... |
OMIM:308050 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Respiratory failure |
ORPHA:3240 |
| Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, A... |
OMIM:601803 |
| Charge Syndrome |
|
Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology, Cleft palate, Respir... |
ORPHA:138 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Delayed eruption of teeth, Camptodactyly of finger, Flexion contracture, High palate, Widely spac... |
OMIM:143095 |
| Mosaic Trisomy 16 |
|
Wide mouth, Craniofacial asymmetry, Abnormal lung morphology, Pulmonary hypoplasia |
ORPHA:1708 |
| Orofaciodigital Syndrome Type 4 |
|
Recurrent respiratory infections, Median cleft lip, Abnormal oral mucosa morphology, Camptodactyl... |
ORPHA:2753 |
| Vacterl With Hydrocephalus |
|
Inguinal hernia, Femoral hernia, Micrognathia, Pulmonary hypoplasia, Retrognathia |
ORPHA:3412 |
| Pentalogy Of Cantrell |
|
Omphalocele, Congenital diaphragmatic hernia, Non-midline cleft lip, Cleft palate, Orofacial clef... |
ORPHA:1335 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Inguinal hernia, Apnea, Abnormality of the dentition, Abnormality of the gingiva, Genital hernia,... |
ORPHA:285 |
| Classical Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Inguinal hernia, Prematurely aged appearance, Poor wo... |
ORPHA:287 |
| Aicardi-Goutieres Syndrome 1 |
|
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Self-mutilation, Petechiae, Purpura |
OMIM:225750 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Abnormality of the temporomandibular joint, Multiple joint contractures, I... |
ORPHA:536471 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration, Wrist flexion contracture, Knee flexion contracture |
OMIM:618733 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Micrognathia, Knee flexion contracture, Pulmonary hyp... |
OMIM:606170 |
| Floating-Harbor Syndrome |
|
Restlessness, Impulsivity, Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth... |
ORPHA:2044 |
| Steinert Myotonic Dystrophy |
|
Respiratory failure requiring assisted ventilation, Tented upper lip vermilion, Oral-pharyngeal d... |
ORPHA:273 |
| Restrictive Dermopathy |
|
Natal tooth, Multiple joint contractures, Camptodactyly of finger, Micrognathia, Submucous cleft ... |
ORPHA:1662 |
| Meckel Syndrome, Type 6 |
|
Bilobed right lung, Pulmonary hypoplasia, Cleft palate, Cleft upper lip |
OMIM:612284 |
| Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Elbow contracture, Camptodactyly of finger, Micrognathia, High, narrow palate, C... |
OMIM:208150 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress |
OMIM:251000 |
| Otopalatodigital Syndrome, Type Ii |
|
Omphalocele, Elbow contracture, Micrognathia, Respiratory insufficiency, Cleft palate, Respirator... |
OMIM:304120 |
| Truncus Arteriosus |
|
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... |
ORPHA:3384 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:601163 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:99125 |
| Thoracoabdominal Syndrome |
|
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Cleft upper lip, Cleft palate, Pulm... |
OMIM:313850 |
| Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth |
OMIM:180920 |
| Fryns Syndrome |
|
Microretrognathia, Omphalocele, Tented upper lip vermilion, Cleft upper lip, Cleft palate, Wide m... |
OMIM:229850 |
| Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Supernumerary tooth... |
OMIM:615948 |
| Alg9-Cdg |
|
Microretrognathia, Thin upper lip vermilion, Omphalocele, Lipodystrophy, Micrognathia, Asthma, Ab... |
ORPHA:79328 |
| Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Recurrent pneumonia, Hypoplasia of the nasal bon... |
ORPHA:93357 |
| Renal Agenesis, Bilateral |
|
Non-midline cleft lip, Pulmonary hypoplasia, Cleft palate |
ORPHA:1848 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:274150 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure |
OMIM:616538 |
| Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea |
ORPHA:2299 |
| Eosinophilic Fasciitis |
|
Fasciitis, Acrocyanosis, Cellulitis |
ORPHA:3165 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
| Achondrogenesis, Type Ia |
|
Stillbirth, Pulmonary hypoplasia, Protruding tongue |
OMIM:200600 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:2519 |
| Coccidioidomycosis |
|
Respiratory distress, Pneumonia, Pulmonary infiltrates, Atypical scarring of skin, Panniculitis, ... |
ORPHA:228123 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Pneumonia, Urticaria, Interstitial pneumo... |
ORPHA:37042 |
| Greenberg Dysplasia |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal lung lobation, Stillbirth, Pulmonary hypoplasia... |
OMIM:215140 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Partial anomalous pulmonary venous return, Cyanosis, Death in infancy |
OMIM:617478 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Bilateral trilobed lung, Omphalocele, Cyanosis, Total anomalous pulmonary v... |
OMIM:306955 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
| Pallister-Hall Syndrome |
|
Microretrognathia, Natal tooth, Inguinal hernia, Accessory oral frenulum, Cleft lip, Paroxysmal b... |
ORPHA:672 |
| Tetraamelia Syndrome 1 |
|
Congenital diaphragmatic hernia, Cleft upper lip, Micrognathia, Peripheral pulmonary vessel aplas... |
OMIM:273395 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Thin upper lip vermilion, Abnormality of the dentition, Gingival overgrowth... |
ORPHA:480880 |
| Sotos Syndrome |
|
Hip contracture, Inguinal hernia, Ankle flexion contracture, Abnormality of the dentition, Aggres... |
ORPHA:821 |
| Cornelia De Lange Syndrome |
|
Delayed eruption of teeth, Cutis marmorata, Congenital diaphragmatic hernia, Micrognathia, Cleft ... |
ORPHA:199 |
| Distal Deletion 15Q |
|
Thin upper lip vermilion, Congenital diaphragmatic hernia, Abnormality of the dentition, Microgna... |
ORPHA:1596 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... |
OMIM:616749 |
| Plague |
|
Respiratory distress, Chapped lip, Anorexia, Acute infectious pneumonia, Glossitis |
ORPHA:707 |
| Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation |
ORPHA:79241 |
| Fraser Syndrome |
|
Omphalocele, Death in infancy, Dental crowding, Cleft upper lip, Dental malocclusion, Abnormal lu... |
ORPHA:2052 |
| Acrorenal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Elbow flexion contracture, Narrow palate, High pal... |
OMIM:200980 |
| Proteus Syndrome |
|
Abnormal dental enamel morphology, Pulmonary embolism, Carious teeth, Abnormal subcutaneous fat t... |
ORPHA:744 |
| Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
| Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Pulmonary artery sling, Pulmonary artery stenosis, Submucous cleft har... |
OMIM:235730 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Congenital diaphragmatic hernia, Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Pulm... |
OMIM:616546 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Death in infancy, Jaundice, Respiratory insufficiency, Pulmonar... |
OMIM:208500 |
| Neu-Laxova Syndrome 1 |
|
Cleft upper lip, Swollen lip, Micrognathia, Thick lower lip vermilion, Yellow subcutaneous tissue... |
OMIM:256520 |
| Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Aortopulmonary... |
ORPHA:97214 |
| Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
| Cardiac Valvular Dysplasia 2 |
|
Central cyanosis, Pulmonary artery dilatation |
OMIM:620067 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, Jaundice |
OMIM:617156 |
| Proximal Renal Tubular Acidosis |
|
Polydipsia, Enamel hypomineralization |
ORPHA:47159 |
| Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:260400 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia |
OMIM:615415 |
| Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Umbilical hernia, Inguinal hernia |
OMIM:618188 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Jaundice, Corneal scarring, Prolonged neonatal jaundice |
OMIM:256810 |
| Meacham Syndrome |
|
Death in infancy, Aplasia of the right hemidiaphragm, Partial anomalous pulmonary venous return, ... |
OMIM:608978 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Respiratory failure, Death in childhood |
OMIM:618252 |
| Familial Dysautonomia |
|
Recurrent respiratory infections, Acrocyanosis, Abnormal pleura morphology |
ORPHA:1764 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Dyspnea, Episodic respiratory distress, Dysphagia, Hyperventilation |
ORPHA:255210 |
| Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Vasculitis in the skin, Acrocyanosis, Rec... |
ORPHA:48435 |
| Smith-Lemli-Opitz Syndrome |
|
Microretrognathia, Death in infancy, Hyperactivity, Dental crowding, Micrognathia, Aggressive beh... |
OMIM:270400 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:314390 |
| Leptospirosis |
|
Respiratory distress, Anorexia, Jaundice, Cough, Pleural effusion, Pulmonary hemorrhage |
ORPHA:509 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Recurrent respiratory infections, Inguinal hernia, Abnormal dental enamel morphology... |
ORPHA:2273 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Natal tooth, Thin upper lip vermilion, Prominent scalp veins... |
ORPHA:3455 |
| Abetalipoproteinemia |
|
Respiratory failure |
ORPHA:14 |
| Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
| Fraser Syndrome 1 |
|
Dental crowding, Cleft upper lip, Dental malocclusion, Cleft palate, Pulmonary hypoplasia, Diffic... |
OMIM:219000 |
| Williams Syndrome |
|
Micrognathia, Compulsive behaviors, Microdontia, Abnormal dental morphology, Abnormal dental enam... |
ORPHA:904 |
| Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea, Petechiae, Purpura |
ORPHA:2330 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Hamartoma of tongue, Cleft palate, Pulmonary hypoplasia, Microglossia |
OMIM:263520 |
| Microphthalmia, Syndromic 1 |
|
Dental crowding, Cleft upper lip, Aggressive behavior, High, narrow palate, Orofacial cleft, Agen... |
OMIM:309800 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Cleft upper lip, Micrognathia, Respiratory insufficiency, Pulmonary hypoplasia, Long... |
ORPHA:93271 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Multiple joint contractures, Recurrent pneumonia, Thin vermilion border, Lo... |
ORPHA:99646 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Pu... |
ORPHA:261537 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:210122 |
| Meier-Gorlin Syndrome 7 |
|
High palate, Pulmonary hypoplasia, Cleft palate, Narrow mouth |
OMIM:617063 |
| Mowat-Wilson Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Pu... |
ORPHA:2152 |
| Matthew-Wood Syndrome |
|
Abnormal lung morphology, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:2470 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Flexion contracture, Short philtrum, A... |
ORPHA:261552 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Elevated pulmonary artery pressure, Pulmonary... |
OMIM:619351 |
| Gitelman Syndrome |
|
Respiratory distress, Polydipsia, Salt craving, Chondrocalcinosis |
ORPHA:358 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Arthrogryposis multiplex congenita, Pulmonary hypoplasia |
ORPHA:86822 |
| Alström Syndrome |
|
Respiratory distress, Abnormality of dental color, Dorsocervical fat pad, Chronic pulmonary obstr... |
ORPHA:64 |
| Pmm2-Cdg |
|
Mandibular prognathia, Thin upper lip vermilion, Respiratory distress, Multiple joint contracture... |
ORPHA:79318 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:263200 |
| Cardiac Valvular Dysplasia 1 |
|
Pulmonary artery atresia, Inguinal hernia, Cyanosis |
OMIM:212093 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Hernia, Umbilic... |
ORPHA:2255 |
| Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Pulmonary hypoplasia, Extrapulmonary sequestrum |
OMIM:200995 |
| Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Lipoatrophy, Cutis marmorata, Panniculitis, Prolonged neonatal jaund... |
ORPHA:51 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:208540 |
| Pagod Syndrome |
|
Omphalocele, Death in infancy, Congenital diaphragmatic hernia, Pulmonary artery hypoplasia, Pulm... |
ORPHA:991 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Pulmonary arterial hypertension, Cyanosis |
ORPHA:51608 |
| Dpagt1-Cdg |
|
Lipodystrophy, Aggressive behavior, Flexion contracture, Head-banging, Stereotypical body rocking... |
ORPHA:86309 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:615503 |
| Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
| Craniofacial Microsomia 1 |
|
Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Cleft palate, Wide mouth, Branchial ano... |
OMIM:164210 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:216694 |
| Johanson-Blizzard Syndrome |
|
Agenesis of permanent teeth, Downturned corners of mouth, Death in childhood, Long philtrum, Hypo... |
OMIM:243800 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Inguinal hernia, Pulmonary hypoplasia |
OMIM:271520 |
| Renal Agenesis |
|
Pulmonary hypoplasia |
ORPHA:411709 |
| Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Partial anomalous pulmonary venous return, Scimitar anomaly, Pul... |
OMIM:618280 |
| Mckusick-Kaufman Syndrome |
|
Pulmonary hypoplasia |
OMIM:236700 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Pulmonary hypoplasia |
ORPHA:1112 |
| Penile Agenesis |
|
Bilateral lung agenesis, Pulmonary hypoplasia |
ORPHA:49 |
