| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... |
ORPHA:79506 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Hemoglobin D Disease |
|
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Temporomandibular joint ankylosis, Dyspnea, Micrognathia, Cleft palate, Mic... |
ORPHA:141152 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Bifid uvula, Cleft palate, Ankyloglossia |
OMIM:303400 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Pierre Robin Syndrome |
|
Pierre-Robin sequence, Micrognathia, Cleft palate, Glossoptosis |
OMIM:261800 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Bamforth-Lazarus Syndrome |
|
Retrognathia, Cleft palate, Choanal atresia |
ORPHA:1226 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... |
OMIM:603902 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Short nose, Retrognathia, Gingival fibromatosis, Respiratory distress, Anteverted nares, Gingival... |
ORPHA:1832 |
| Perching Syndrome |
|
Respiratory distress, High palate, Camptodactyly, Joint contracture, Depressed nasal bridge |
OMIM:617055 |
| Burn-Mckeown Syndrome |
|
Thin vermilion border, Bilateral choanal atresia, Bilateral choanal atresia/stenosis, Short philt... |
OMIM:608572 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Diaphyseal sclerosis, Mandibular prognathia, Cortical sclerosis, Death... |
OMIM:122860 |
| Isolated Pierre Robin Syndrome |
|
Micrognathia, Cleft palate, Glossoptosis |
ORPHA:718 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
High palate, Choanal atresia, Tooth agenesis, Cleft palate, Abnormality of the sense of smell, Ap... |
ORPHA:1135 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Pierre-Robin sequence, Micrognathia, Cleft palate, Glossoptosis |
OMIM:311895 |
| Bamforth-Lazarus Syndrome |
|
Cleft palate, Bilateral choanal atresia |
OMIM:241850 |
| Auriculocondylar Syndrome 2A |
|
Short mandibular rami, Respiratory distress, Mandibular condyle hypoplasia, Dental crowding, Temp... |
OMIM:614669 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Choanal Atresia And Lymphedema |
|
High palate, Choanal atresia |
OMIM:613611 |
| Tetraamelia Syndrome 2 |
|
Glossoptosis, Ankyloglossia, Micrognathia, Cleft palate, Microretrognathia, Bilateral cleft lip |
OMIM:618021 |
| Hemoglobin E Disease |
|
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... |
ORPHA:2133 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231393 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Abnormality of the philtrum, Dyspnea, Choanal atresia, Joint hypermobility,... |
ORPHA:2759 |
| Marshall-Smith Syndrome |
|
Retrognathia, Short nose, Reduced bone mineral density, Anteverted nares, Gingival overgrowth, Ch... |
ORPHA:561 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
| Distal Duplication 18Q |
|
Short nose, Anteverted nares, High palate, Choanal atresia, Abnormal dental morphology, Camptodac... |
ORPHA:1716 |
| Auriculocondylar Syndrome 4 |
|
Narrow mouth, Glossoptosis, Micrognathia, Apnea, Cleft palate |
OMIM:620457 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Osteopenia, Hyposmia, Anosmia, Choanal atresia, Tooth agenesis, Cleft upper lip, Cleft palate |
OMIM:147950 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Bilateral cleft palate, Bifid nasal tip, High palate, Ankyloglossia, Enamel hypoplasia, Bilateral... |
OMIM:618874 |
| Hypomandibular Faciocranial Dysostosis |
|
Hypoplasia of the maxilla, Coronal craniosynostosis, Micrognathia, Choanal stenosis, Aglossia, Pu... |
OMIM:241310 |
| Treacher Collins Syndrome 4 |
|
Micrognathia, Cleft palate, Choanal stenosis |
OMIM:618939 |
| Burn-Mckeown Syndrome |
|
Short nose, Abnormal palate morphology, Bilateral choanal atresia, Prominent nasal bridge, Wide n... |
ORPHA:1200 |
| Vitamin K Antagonist Embryofetopathy |
|
Short nose, Epiphyseal stippling, Anteverted nares, Choanal atresia, Macroglossia, Depressed nasa... |
ORPHA:1914 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis, Micrognathia, Macroglossia, Respiratory distress |
ORPHA:1423 |
| Osteoglosphonic Dysplasia |
|
Abnormal bone ossification, Anteverted nares, Choanal atresia, Multiple unerupted teeth, Tooth ag... |
ORPHA:2645 |
| Pfeiffer Syndrome |
|
Short nose, Dental crowding, Mandibular prognathia, High palate, Choanal atresia, Coronal cranios... |
OMIM:101600 |
| Antley-Bixler Syndrome |
|
Short nose, Anteverted nares, Narrow mouth, Choanal atresia, Joint stiffness, Camptodactyly of fi... |
ORPHA:83 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Tessier cleft, High, narrow palate, Choanal atresia, Depressed nasal ridge, Cleft upper lip, Clef... |
OMIM:607597 |
| Lowry-Maclean Syndrome |
|
Osteopenia, Retrognathia, High, narrow palate, Short nose, Convex nasal ridge, Midgut malrotation... |
ORPHA:2409 |
| Orofaciodigital Syndrome V |
|
Aganglionic megacolon, High palate, Ankyloglossia, Cleft palate, Bifid uvula, Lobulated tongue, H... |
OMIM:174300 |
| Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| 2Q24 Microdeletion Syndrome |
|
Short philtrum, Abnormal oral frenulum morphology, Camptodactyly of finger, Cleft palate, Central... |
ORPHA:1617 |
| Crouzon Syndrome |
|
Narrow palate, Choanal atresia, Multiple suture craniosynostosis, Hypoplasia of the maxilla, Conv... |
ORPHA:207 |
| Gracile Bone Dysplasia |
|
Decreased skull ossification, Ankyloglossia, Death in infancy |
OMIM:602361 |
| Edinburgh Malformation Syndrome |
|
Short nose, Thin vermilion border, Anteverted nares, Narrow mouth, Choanal atresia, Joint stiffne... |
ORPHA:1895 |
| Anophthalmia Plus Syndrome |
|
Tessier cleft, Bilateral cleft palate, Non-midline cleft of the upper lip, Choanal atresia, Cleft... |
ORPHA:1104 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Short nose, Respiratory distress, High palate, Congenital contracture, Death in infancy, Microgna... |
OMIM:615042 |
| Kinsship Syndrome |
|
Osteopenia, Thick lower lip vermilion, Widely spaced teeth, Short philtrum, Low hanging columella... |
OMIM:619297 |
| Orofacial Cleft 13 |
|
Oligodontia, Retrognathia, Micrognathia, Cleft soft palate |
OMIM:613857 |
| Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Retrognathia, Long nose, Everted lower lip vermilion, Broad philtrum, Joint hypermobility, Short ... |
OMIM:620450 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Retrognathia, Mandibular prognathia, Camptodactyly of finger, Micrognathia, Bifid uvula, Cleft pa... |
ORPHA:2521 |
| Raine Syndrome |
|
Short nose, Subperiosteal bone formation, Increased bone mineral density, Mandibular prognathia, ... |
OMIM:259775 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Cleft palate, Abnormal vertebral segmentation and ... |
ORPHA:66637 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia |
OMIM:232700 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Glossoptosis, Death in infancy |
OMIM:614876 |
| Terminal Osseous Dysplasia |
|
Abnormal hand bone ossification, Abnormal bone structure, Depressed nasal tip, Camptodactyly of t... |
OMIM:300244 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Narrow palate, Respiratory distress, Anteverted nares, Narrow mouth, Choanal atresia, Tooth agene... |
ORPHA:1555 |
| Orofaciodigital Syndrome Xix |
|
Narrow palate, Retrognathia, Cleft soft palate, Bifid nasal tip, High palate, Thick nasal alae, M... |
OMIM:620107 |
| Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Wide mouth, Long philtrum, Short philtrum, Anteverted nares, Exaggerated cupid'... |
ORPHA:1507 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Cleft hard palate, Fixed elbow flexion, Delayed epiphyseal ossification, Micrognathia, Broad nasa... |
ORPHA:166016 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Limitation of joint mobility, Respiratory distress |
ORPHA:2680 |
| Hypomandibular Faciocranial Dysostosis |
|
Short nose, Anteverted nares, Maxillozygomatic hypoplasia, Narrow mouth, Death in infancy, Bifid ... |
ORPHA:1790 |
| Orofaciodigital Syndrome I |
|
Supernumerary tooth, High palate, Tongue nodules, Ankyloglossia, Alveolar ridge overgrowth, Agene... |
OMIM:311200 |
| Frontofacionasal Dysplasia |
|
Tessier cleft, Short nose, Dimple on nasal tip, Non-midline cleft of the upper lip, Bifid nasal t... |
ORPHA:1791 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Narrow palate, Limited elbow extension, Respiratory distress, Anteverted nares, Gingival overgrow... |
OMIM:123790 |
| Robin Sequence-Oligodactyly Syndrome |
|
Micrognathia, Cleft palate, Glossoptosis, Abnormality of the dentition |
ORPHA:3104 |
| Hereditary Acrokeratotic Poikiloderma |
|
Trismus, Open bite, Gingival bleeding, Abnormality of the dentition, Ankyloglossia, Gingivitis, N... |
ORPHA:2907 |
| Trisomy 8Q |
|
Orofacial cleft, Bone cyst, Non-midline cleft of the upper lip, High palate, Everted lower lip ve... |
ORPHA:1752 |
| Pai Syndrome |
|
Midline defect of the nose, Nasal polyposis, Abnormal oral frenulum morphology, Bifid uvula, Clef... |
ORPHA:1993 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Retrognathia, Fused cervical vertebrae, Esophageal atresia, Spina bifida occulta, Wide nose, Choa... |
OMIM:619227 |
| Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Narrow mouth, Choanal atresia, Ankyloglossia, Pyloric stenosis, Camptodactyl... |
ORPHA:261330 |
| Mucopolysaccharidosis, Type Ix |
|
Hyperextensibility at elbow, Synovitis, Bifid uvula, Wrist hypermobility, Submucous cleft hard pa... |
OMIM:601492 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Micrognathia, Arthrogryposis multiplex congenita, Prominent nasal bridge, Choanal atresia |
OMIM:615095 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Short nose, Esophageal atresia, Respiratory distress, Anteverted nares, Choanal atresia, Microgna... |
OMIM:610536 |
| Hypoglossia With Situs Inversus |
|
Respiratory distress, Narrow mouth, High palate, Micrognathia, Microglossia, Hypodontia |
OMIM:612776 |
| Pfeiffer Syndrome Type 2 |
|
Short nose, Tracheomalacia, Respiratory distress, Limitation of joint mobility, High palate, Anal... |
ORPHA:93259 |
| Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Lowry-Maclean Syndrome |
|
Convex nasal ridge, Craniosynostosis, Cleft palate, Delayed eruption of teeth |
OMIM:600252 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Cleft Palate, Isolated |
|
Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate |
OMIM:119540 |
| Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ankyloglossia |
OMIM:619352 |
| Treacher Collins Syndrome 2 |
|
Retrognathia, Choanal atresia, Fusion of middle ear ossicles, Micrognathia, Cleft palate, Choanal... |
OMIM:613717 |
| Acrocraniofacial Dysostosis |
|
Advanced eruption of teeth, Spina bifida occulta, Short philtrum, Anteverted nares, Choanal atres... |
ORPHA:949 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Retrognathia, Microdontia, Eclabion, Wide mouth, Joint hypermobility, Short philtrum, Anteverted ... |
OMIM:619950 |
| Robinow Syndrome |
|
Short nose, Orofacial cleft, Triangular mouth, Tooth malposition, Hypodontia, Anteverted nares, F... |
ORPHA:97360 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Craniosynostosis, Choanal atresia |
OMIM:612247 |
| Catel-Manzke Syndrome |
|
Glossoptosis, Oral synechia, Joint stiffness, Camptodactyly of finger, Micrognathia, Cleft palate... |
ORPHA:1388 |
| Whistling Face Syndrome, Recessive Form |
|
Trismus, Shoulder flexion contracture, Elbow flexion contracture, High palate, Whistling appearan... |
OMIM:277720 |
| Chromosome 22Q11.2 Duplication Syndrome |
|
Velopharyngeal insufficiency, Micrognathia, High palate, Depressed nasal ridge |
OMIM:608363 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Short nose, Bilateral choanal atresia, Esophageal atresia, Anteverted nares, Choanal atresia, Tra... |
OMIM:619859 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Wide nose, Abnormal nasal bone morphology, Bifid nasal tip, Choanal atresia, Downturned corners o... |
ORPHA:521308 |
| Opitz Gbbb Syndrome |
|
Tracheomalacia, Hypodontia, Anteverted nares, Ectopic anus, High palate, Anal atresia, Tracheoeso... |
ORPHA:2745 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
| Sweeney-Cox Syndrome |
|
Short philtrum, Low hanging columella, Wide anterior fontanel, High palate, Choanal atresia, Medi... |
OMIM:617746 |
| Agnathia-Otocephaly Complex |
|
Wide nose, Tracheomalacia, Respiratory distress, Narrow mouth, Mandibular aplasia, Micrognathia, ... |
OMIM:202650 |
| Pfeiffer Syndrome Type 3 |
|
Short nose, Tracheomalacia, Respiratory distress, Limitation of joint mobility, High palate, Anal... |
ORPHA:93260 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Narrow palate, Wide nose, Dental crowding, High palate, Narrow mouth, Ankyloglossia, Thick vermil... |
OMIM:616078 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Retrognathia, High palate, Choanal atresia, Cleft palate, Prominent nasal bridge |
ORPHA:52055 |
| Johnson Neuroectodermal Syndrome |
|
Anosmia, Choanal atresia, Everted lower lip vermilion, Carious teeth, Cleft palate, Bulbous nose |
ORPHA:2316 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Tongue fasciculations, High palate, Camptodactyly of finger, Cleft palate |
OMIM:614399 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Micrognathia, Cleft palate, Osteoarthritis, Long philtrum |
ORPHA:166100 |
| Blepharocheilodontic Syndrome 1 |
|
Conical tooth, Choanal atresia, Anal atresia, Cleft upper lip, Hypodontia |
OMIM:119580 |
| Adducted Thumbs Syndrome |
|
High, narrow palate, High palate, Velopharyngeal insufficiency, Cleft palate, Craniosynostosis, A... |
OMIM:201550 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Bilateral choanal atresia, Low hanging columella, Underdeveloped nasal alae, Choanal atresia, Ank... |
OMIM:620186 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Long philtrum, Respiratory distress, Choanal atresia, Anal atresia, Prominent nose, Abnormality o... |
OMIM:300968 |
| 1Q21.1 Microdeletion Syndrome |
|
Long philtrum, High palate, Ankyloglossia, Joint hypermobility, Bulbous nose, Wide nasal bridge |
ORPHA:250989 |
| Orofaciodigital Syndrome Type 5 |
|
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... |
ORPHA:2919 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Coffin-Siris Syndrome 11 |
|
Esophageal atresia, Cleft soft palate, High palate, Downturned corners of mouth, Bifid uvula, Wid... |
OMIM:618779 |
| Congenital Velopharyngeal Incompetence |
|
Abnormal palate morphology, Velopharyngeal insufficiency |
ORPHA:2291 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Convex nasal ridge, Abnormal palate morphology, Choanal atresia |
ORPHA:93262 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Non-midline cleft of the upper lip, Choanal atresia, Joint stiffness, Micrognathia, Cleft palate,... |
ORPHA:1300 |
| Chromosome 9P Deletion Syndrome |
|
Narrow palate, Retrognathia, High, narrow palate, Thin vermilion border, Anteverted nares, High p... |
OMIM:158170 |
| Kilquist Syndrome |
|
Midgut malrotation, Mandibular prognathia, Choanal atresia, Intestinal malrotation, Hypoplasia of... |
OMIM:619080 |
| Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
| Fg Syndrome Type 1 |
|
Long philtrum, Dental crowding, Limited elbow extension and supination, High palate, Choanal atre... |
ORPHA:93932 |
| Auriculocondylar Syndrome 1 |
|
Dental malocclusion, Anterior open-bite malocclusion, Mandibular condyle hypoplasia, Dental crowd... |
OMIM:602483 |
| Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
| Mesomelia-Synostoses Syndrome |
|
Convex nasal ridge, High, narrow palate, Aplasia/Hypoplasia of the uvula, Narrow mouth, Synostosi... |
ORPHA:2496 |
| Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Difficulty in tongue movements, Respiratory distress,... |
ORPHA:137888 |
| Hypophosphatasia, Adult |
|
Rickets, Pathologic fracture, Carious teeth, Premature loss of primary teeth, Osteomalacia, Prema... |
OMIM:146300 |
| Carey-Fineman-Ziter Syndrome 2 |
|
High, narrow palate, Increased overbite, Abnormal nasal septum morphology, Anteverted nares, Dent... |
OMIM:619941 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Anal fissure, Narrow mouth, Abnormal esophagus morphology, Ankyloglossia, Carious teeth, Flexion ... |
ORPHA:89842 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Ankyloglossia, Hip contracture, Cleft palate, Downturned corners of mouth, Microretrognathia, Kne... |
ORPHA:488642 |
| Hutchinson-Gilford Progeria Syndrome |
|
Retrognathia, Abnormal nasal tip morphology, Reduced bone mineral density, Exertional dyspnea, Na... |
ORPHA:740 |
| Microform Holoprosencephaly |
|
Short nose, Orofacial cleft, Solitary median maxillary central incisor, Short philtrum, Narrow na... |
ORPHA:280200 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Short nose, Calvarial osteosclerosis, Cleft soft palate, Triangular mouth, Anteverted nares, Dent... |
OMIM:616331 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Plantar flexion contracture, Respiratory distress, Paradoxical respiration, High palate, Distal a... |
OMIM:620011 |
| Treacher-Collins Syndrome |
|
Retrognathia, Glossoptosis, Tracheoesophageal fistula, Tooth agenesis, Wide mouth, Choanal atresi... |
ORPHA:861 |
| Apert Syndrome |
|
Limited elbow movement, Bifid uvula, Craniosynostosis, Narrow palate, Choanal atresia, Cleft pala... |
OMIM:101200 |
| Odontochondrodysplasia |
|
Retrognathia, Short nose, Delayed eruption of teeth, Respiratory distress, Death in infancy, Dent... |
ORPHA:166272 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Short nose, Cleft soft palate, Triangular mouth, Anteverted nares, Gingival overgrowth, Abnormali... |
OMIM:618529 |
| Marcus-Gunn Syndrome |
|
Cleft lip, Cleft palate, Choanal atresia, Abnormality of the sense of smell |
ORPHA:91412 |
| Apert Syndrome |
|
Narrow palate, Esophageal atresia, Delayed eruption of teeth, Ectopic anus, Mandibular prognathia... |
ORPHA:87 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Advanced eruption of teeth, Short philtrum, Delayed eruption of teeth, Low hanging columella, Gin... |
OMIM:619148 |
| Amish Lethal Microcephaly |
|
Cleft soft palate, Limitation of joint mobility, Decreased skull ossification, Osteoporosis, Deat... |
ORPHA:99742 |
| Orofaciodigital Syndrome Type 1 |
|
Reduced bone mineral density, Broad alveolar ridges, Accessory oral frenulum, Tongue nodules, Lip... |
ORPHA:2750 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Glossoptosis, Camptodactyly of finger, Abnormal mandible morphology, Abnorma... |
ORPHA:3201 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Tooth malposition, Choanal atresia, Hip contracture, Micrognathia, Choanal stenosis, ... |
OMIM:156400 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Retrognathia, High palate, Choanal atresia, Bifid uvula, Prominent nasal bridge |
OMIM:300472 |
| Diamond-Blackfan Anemia 7 |
|
Osteopenia, Esophagitis, Osteoporosis, Choanal atresia, Cleft palate |
OMIM:612562 |
| Gapo Syndrome |
|
Long philtrum, Abnormal palate morphology, Delayed eruption of teeth, Anteverted nares, Mandibula... |
ORPHA:2067 |
| Supernumerary Nostril |
|
Supernumerary naris, Choanal atresia, Tessier cleft |
ORPHA:141096 |
| Hallermann-Streiff Syndrome |
|
Supernumerary tooth, High, narrow palate, Reduced bone mineral density, Tracheomalacia, Glossopto... |
ORPHA:2108 |
| Helsmoortel-Van Der Aa Syndrome |
|
Short nose, High, narrow palate, Advanced eruption of teeth, Thin vermilion border, Widely spaced... |
OMIM:615873 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Osteoglophonic Dysplasia |
|
Osteopenia, Short nose, Delayed eruption of teeth, Respiratory distress, Anteverted nares, Erupti... |
OMIM:166250 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... |
ORPHA:251380 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Cranial hyperostosis, High, narrow palate, Osteopetrosis, Abnormal cortical bone morphology, Incr... |
ORPHA:2658 |
| Orofaciodigital Syndrome Type 4 |
|
Retrognathia, Abnormal oral frenulum morphology, Bifid uvula, Short philtrum, Perineal fistula, C... |
ORPHA:2753 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Cam... |
ORPHA:88630 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Anteverted nares, Intestinal malrotation, Abnormal oral frenulum morphology, Micrognathia, Bifid ... |
ORPHA:404440 |
| Deafness-Craniofacial Syndrome |
|
Abnormal palate morphology, Short philtrum, Short lingual frenulum, Abnormality of the dentition,... |
ORPHA:3241 |
| Orofaciodigital Syndrome Ix |
|
Bifid nasal tip, High palate, Abnormality of the dentition, Camptodactyly, Cleft palate, Broad na... |
OMIM:258865 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Short nose, Absent cupid's bow, Choanal atresia, Celiac disease, Bulbous nose, Depressed nasal br... |
ORPHA:284169 |
| Radial Ray Hypoplasia With Choanal Atresia |
|
Choanal stenosis, Choanal atresia, Depressed nasal bridge |
OMIM:179270 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Cleft palate, Abnormal mandible morphology, Natal tooth, Arthrogryposis multiplex congenita |
OMIM:217150 |
| Cleft Palate, Deafness, And Oligodontia |
|
Agenesis of permanent teeth, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
| Opitz-Kaveggia Syndrome |
|
Narrow palate, Long philtrum, Anal stenosis, Thick lower lip vermilion, Wide anterior fontanel, D... |
OMIM:305450 |
| Solitary Median Maxillary Central Incisor |
|
Solitary median maxillary central incisor, Prominent median palatal raphe, Anosmia, Choanal atres... |
OMIM:147250 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Micrognathia, Widely spaced teeth, Wide mouth, Respiratory distress |
OMIM:300934 |
| Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Macroglossia, High palate, Respiratory distress |
ORPHA:254864 |
| 8Q22.1 Microdeletion Syndrome |
|
Abnormal nostril morphology, Limitation of joint mobility, Abnormality of the dentition, Depresse... |
ORPHA:178303 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Respiratory distress, High palate, Multiple prenatal fractures, Flexion contracture |
OMIM:271225 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Spina bifida occulta, Knee flexion contracture, Hyperextensibility of the finger joints, Proximal... |
OMIM:151050 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia |
OMIM:615863 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Lambdoidal craniosynostosis, Wide anterior fontanel, Choanal atresia, Camptodactyly, Coronal cran... |
OMIM:207410 |
| Postaxial Acrofacial Dysostosis |
|
Conical tooth, Midgut malrotation, Choanal atresia, Pyloric stenosis, Cleft upper lip, Micrognath... |
OMIM:263750 |
| Craniosynostosis 2 |
|
Supernumerary tooth, Unicoronal synostosis, Cleft soft palate, Bicoronal synostosis, Craniosynost... |
OMIM:604757 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Short nose, Respiratory distress, High palate, Micrognathia, Dental malocclusion, Con... |
ORPHA:329178 |
| Auriculocondylar Syndrome 3 |
|
Retrognathia, Micrognathia, Bifid uvula, Glossoptosis |
OMIM:615706 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Supernumerary tooth, Bilateral choanal atresia, Wide nose, Underdeveloped nasal alae, Osteoporosi... |
OMIM:619525 |
| Diamond-Blackfan Anemia 10 |
|
Micrognathia, Cleft palate, Choanal atresia, Respiratory distress |
OMIM:613309 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Stillbirth, Narrow nasal ridge, Anteverted nares, Neonatal death, Choanal stenosis, Microretrogna... |
OMIM:236500 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Retrognathia, Respiratory distress, High palate, Death in infancy, Neonatal death, Joint hypermob... |
OMIM:300219 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Cleft palate, Death in infancy |
OMIM:258320 |
| Marshall-Smith Syndrome |
|
Short mandibular rami, Retrognathia, Glossoptosis, Microdontia, Eclabion, Craniosynostosis, Short... |
OMIM:602535 |
| Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... |
OMIM:615703 |
| Alfadhel Syndrome |
|
Retrognathia, Thin vermilion border, Short philtrum, Nasal flaring, Smooth philtrum, Joint hyperm... |
OMIM:620655 |
| Congenital Tufting Enteropathy |
|
Abnormal large intestinal mucosa morphology, Steatorrhea, Orofacial cleft, Abnormal small intesti... |
ORPHA:92050 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Basilicata-Akhtar Syndrome |
|
Retrognathia, Anteverted nares, Camptodactyly, Downturned corners of mouth, Wide nasal ridge, Cho... |
OMIM:301032 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Rectovaginal fistula, Choanal atresia, Anal atresia, Intestinal malrotation, Cleft palate |
OMIM:270420 |
| Bartsocas-Papas Syndrome 2 |
|
Bilateral cleft palate, Wide anterior fontanel, Micrognathia, Accessory oral frenulum, Bilateral ... |
OMIM:619339 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Retrognathia, Cleft soft palate, Short philtrum, Prominent nasal tip, Thick nasal alae, Depressed... |
ORPHA:293725 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence |
OMIM:192445 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis |
OMIM:603529 |
| Ramos-Arroyo Syndrome |
|
Deviated nasal septum, Aganglionic megacolon, Respiratory distress, Smooth tongue, Anteverted nar... |
ORPHA:1051 |
| Stuve-Wiedemann Syndrome 2 |
|
Stillbirth, Respiratory distress, Death in adolescence, Camptodactyly, Neonatal death |
OMIM:619751 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Short nose, Anteverted nares, High palate, Glossoptosis, Camptodactyly, Micrognathia, Pierre-Robi... |
OMIM:613604 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Epiphyseal stippling, Anteverted nares, High palate, Hip contracture, Micrognathia, F... |
OMIM:222765 |
| Moebius Syndrome |
|
Respiratory distress, High palate, Abnormality of the dentition, Camptodactyly, Micrognathia, Bif... |
OMIM:157900 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Anal fissure, Foot joint contracture, Narrow mouth, Osteoporosis, Ankyloglossia, Esop... |
ORPHA:79408 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Retrognathia, Cleft soft palate, Bifid uvula, Unilateral cleft lip, Cleft palate |
ORPHA:2736 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Ankle flexion contracture, High, narrow palate, Respiratory distress, Camptodactyly, Micrognathia... |
OMIM:608799 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia |
ORPHA:231401 |
| Bencze Syndrome |
|
Submucous cleft hard palate, Open bite |
ORPHA:1241 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Respiratory distress, Tongue fasciculations, Elbow flexion contracture... |
ORPHA:1145 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Thin vermilion border, Short philtrum, Respiratory distress, Micrognathia, Bulbous nose, Wide nas... |
ORPHA:261304 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy |
OMIM:254120 |
| Arthrogryposis, Distal, Type 5D |
|
Hypermobility of distal interphalangeal joints, Limited elbow movement, Anteverted nares, Elbow f... |
OMIM:615065 |
| Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Retrognathia, Glossoptosis, Cleft palate, Pierre-Robin sequence, Joint hypermobility, Advanced os... |
OMIM:620269 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Agenesis of incisor, Widely spaced teeth, Short philtrum, Low hanging columella, Anteverted nares... |
OMIM:619841 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Pierre-Robin sequence, Choanal stenosis, Cleft soft palate, Thin upper lip vermilion |
OMIM:620183 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Retrognathia, High, narrow palate, Osteopetrosis, Spina bifida occulta, Delayed eruption of teeth... |
ORPHA:2780 |
| Cleft Lip/Palate |
|
Orofacial cleft, Abnormal number of permanent teeth, Peg-shaped maxillary lateral incisors, Bilat... |
ORPHA:199306 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Hypoventilation, Short nose, Respiratory distress, Anteverted nares, High palate, Micrognathia, A... |
ORPHA:314655 |
| Orofaciodigital Syndrome Ii |
|
Bifid nasal tip, High palate, Agenesis of central incisor, Hypoplasia of the maxilla, Micrognathi... |
OMIM:252100 |
| Bnar Syndrome |
|
Short lingual frenulum, Anal stenosis, Anteriorly placed anus, Bifid nose |
ORPHA:217266 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Narrow mouth, Mandibular aplasia, Microglossia, Absent nares, Aplasia/Hypop... |
ORPHA:990 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Anteverted nares, Unilateral cleft palate, Micrognathia, Unilateral cleft lip, Joint hypermobilit... |
OMIM:619122 |
| Restrictive Dermopathy 1 |
|
Stillbirth, Wide anterior fontanel, Narrow nasal ridge, Osteolytic defects of the distal phalange... |
OMIM:275210 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Arthrogryposis multiplex congenita, Apneic episodes precipitated by illness, fatigue, stress, Sud... |
OMIM:254210 |
| Oculofaciocardiodental Syndrome |
|
Abnormal palate morphology, Solitary median maxillary central incisor, Delayed eruption of teeth,... |
ORPHA:2712 |
| Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hyposmia, Anosmia, Osteoporosis, Cleft palate, Bifid nose, Cleft lip |
OMIM:614838 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Knee flexion contracture, Tongue atrophy |
ORPHA:496689 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Anteverted nares, Abnormality of primary teeth, Incisor macrodontia, High p... |
ORPHA:438216 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Narrow mouth, Death in infancy, Micrognathia, Cleft palate, Bulbous nose, Wide nasal bridge |
ORPHA:93946 |
| Diaphanospondylodysostosis |
|
Absent in utero rib ossification, Short nose, Tracheomalacia, Respiratory distress, Absent in ute... |
OMIM:608022 |
| Orofaciodigital Syndrome Type 10 |
|
Retrognathia, Tarsal synostosis, Cleft soft palate, Micrognathia, Long philtrum, Metatarsal synos... |
ORPHA:2756 |
| Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum |
OMIM:618732 |
| Alpha-Thalassemia |
|
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Cognitive impairment, Hepatosplen... |
ORPHA:846 |
| Orofaciodigital Syndrome Iv |
|
High palate, Tongue nodules, Micrognathia, Cleft palate, Lobulated tongue, Accessory oral frenulu... |
OMIM:258860 |
| Clark-Baraitser syndrome |
|
Thick lower lip vermilion, Anteverted nares, Prominent median palatal raphe, Exaggerated median t... |
OMIM:300602 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Short nose, High, narrow palate, Short uvula, Short philtrum, Anteverted nares, High palate, Anky... |
OMIM:619475 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Short nose, Narrow nasal bridge, Low hanging columella, Anteverted nares, Respiratory distress, H... |
OMIM:619383 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Micrognathia, Bifid uvula, Cleft palate, Respiratory distress |
OMIM:606164 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Supernumerary tooth, Thin vermilion border, Thick lower lip vermilion, High palate, Bifid uvula, ... |
OMIM:617412 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Ankle flexion contracture, Respiratory distress, Elbow flexion contracture, Wrist flexion contrac... |
ORPHA:1143 |
| Acrofacial Dysostosis, Weyers Type |
|
Tessier cleft, Advanced eruption of teeth, Solitary median maxillary central incisor, Conical too... |
ORPHA:952 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Bilateral choanal atresia, Widely spaced teeth, Conical tooth, Selective tooth agenesis, Hypoplas... |
OMIM:106260 |
| Orofaciodigital Syndrome Xviii |
|
Short philtrum, Accessory oral frenulum, Prominent nasal bridge, Cleft lip, Diastema, Wide nasal ... |
OMIM:617927 |
| Bainbridge-Ropers Syndrome |
|
Contracture of the proximal interphalangeal joint of the 4th finger, Retrognathia, Short nose, An... |
OMIM:615485 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Absent ossification of capital femoral epiphysis, Delayed epiphyseal ossifi... |
ORPHA:226313 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, High palate, Protruding tongue, Broad nasal tip, Wide mouth, Thick vermilion bor... |
OMIM:618106 |
| Tetrasomy 12P |
|
Short nose, Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Anteverted... |
ORPHA:884 |
| Orofaciodigital Syndrome Type 2 |
|
Peg-shaped maxillary lateral incisors, Tongue nodules, High palate, Talon cusp, Agenesis of centr... |
ORPHA:2751 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Retrognathia, High, narrow palate, Thin vermilion border, Short philtrum, Respiratory distress, D... |
ORPHA:2707 |
| Schilbach-Rott Syndrome |
|
Long nose, Narrow mouth, Micrognathia, Bifid uvula, Prominent nose, Submucous cleft hard palate |
OMIM:164220 |
| Cardioacrofacial Dysplasia 1 |
|
Short philtrum, Conical tooth, Hypoplasia of the maxilla, Overhanging nasal tip, Accessory oral f... |
OMIM:619142 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Tongue fasciculations, Respiratory distress |
ORPHA:238329 |
| Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
| Chromosome 17Q12 Duplication Syndrome |
|
Micrognathia, Smooth philtrum, Esophageal atresia, Cleft soft palate |
OMIM:614526 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Short philtrum, Tooth malposition, High palate, Furrowed tongue, Everted lower lip vermilion, Mic... |
ORPHA:1387 |
| Cornelia De Lange Syndrome 1 |
|
Limited elbow extension, High, narrow palate, Widely spaced teeth, Delayed eruption of teeth, Ant... |
OMIM:122470 |
| Hemifacial Atrophy, Progressive |
|
Short mandibular rami, Dental malocclusion, Delayed eruption of teeth, Tongue atrophy |
OMIM:141300 |
| Cerebrofacioarticular Syndrome |
|
Osteopenia, Anal stenosis, Bilateral choanal atresia/stenosis, Tracheomalacia, Narrow mouth, Camp... |
ORPHA:314679 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... |
OMIM:619868 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Micrognathia, Respiratory distress |
OMIM:300580 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Methimazole Embryofetopathy |
|
Esophageal atresia, Tracheoesophageal fistula, Choanal atresia |
ORPHA:1923 |
| Distal Xq28 Microduplication Syndrome |
|
Thick lower lip vermilion, Dental crowding, Short lingual frenulum, High palate, Hypoplasia of th... |
ORPHA:293939 |
| Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Limited elbow extension, Retrognathia, Wide nose, Anteverted nares, Elbow flexion contracture, Hi... |
OMIM:272430 |
| Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Wide anterior fontanel, High palate, Choanal atresia, Anal atresia, Sagittal crani... |
OMIM:617063 |
| Holoprosencephaly 9 |
|
Agenesis of incisor, Short nose, Thick lower lip vermilion, Single naris, Solitary median maxilla... |
OMIM:610829 |
| Burning Mouth Syndrome |
|
Smooth tongue, Abnormality of taste sensation, Strawberry tongue, Tongue pain, Parageusia, Abnorm... |
ORPHA:353253 |
| Arthrogryposis, Distal, Type 3 |
|
High palate, Decreased hip abduction, Camptodactyly of toe, Camptodactyly of finger, Micrognathia... |
OMIM:114300 |
| Acrocallosal Syndrome |
|
Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid uvula, Wide mouth, Long phi... |
OMIM:200990 |
| Birk-Barel Syndrome |
|
Short philtrum, High palate, Bifid uvula, Submucous cleft soft palate, Tented upper lip vermilion... |
OMIM:612292 |
| W Syndrome |
|
Camptodactyly, Broad nasal tip, Upper lip pit, Submucous cleft hard palate, Broad uvula, Depresse... |
ORPHA:2804 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Restricted large joint movement, Delayed ossification of carpal bones, Laryngotracheomalacia, Glo... |
ORPHA:93346 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Short nose, Hypoplasia of the maxilla, Micrognathia, Cleft palate, Accessory oral frenulum |
ORPHA:79113 |
| Bosma Arhinia Microphthalmia Syndrome |
|
High palate, Anosmia, Choanal atresia, Cleft lip, Hypoplasia of teeth, Cleft palate, Dental maloc... |
OMIM:603457 |
| Van Den Ende-Gupta Syndrome |
|
Convex nasal ridge, High, narrow palate, Camptodactyly of 2nd-5th fingers, Dental crowding, Under... |
OMIM:600920 |
| Orofaciodigital Syndrome Type 6 |
|
High palate, Tongue nodules, Abnormal oral frenulum morphology, Micrognathia, Cleft palate, Lobul... |
ORPHA:2754 |
| Rere-Related Neurodevelopmental Syndrome |
|
Anteverted nares, Micrognathia, Choanal atresia |
ORPHA:494344 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Choanal atresia |
OMIM:613970 |
| Monosomy 9P |
|
Short nose, Anteverted nares, Limitation of joint mobility, High palate, Choanal atresia, Abnorma... |
ORPHA:261112 |
| Treacher Collins Syndrome 1 |
|
Cleft soft palate, Narrow mouth, Choanal atresia, Micrognathia, Cleft palate, Wide mouth, Abnorma... |
OMIM:154500 |
| Orofaciodigital Syndrome Xv |
|
Anteverted nares, Midline notch of upper alveolar ridge, Lobulated tongue, Wide nasal bridge |
OMIM:617127 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Hyperextensibility of the finger joints, Glossoptosis, Micrognathia, Cleft palate, Prominent nasa... |
OMIM:618356 |
| Immunodeficiency 95 |
|
Recurrent viral upper respiratory tract infections, Respiratory distress |
OMIM:619773 |
| X-Linked Centronuclear Myopathy |
|
High palate, Respiratory distress |
ORPHA:596 |
| Neuroocular Syndrome |
|
Retrognathia, Widely spaced teeth, Short uvula, Increased overbite, Hyperextensibility of the fin... |
OMIM:619539 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Wide anterior fontanel, Choanal atresia, Depressed nasal bridge, Long philtrum, Sagit... |
OMIM:610199 |
| Stickler Syndrome, Type I |
|
Arthritis, Anteverted nares, Joint stiffness, Micrognathia, Bifid uvula, Cleft palate, Osteoarthr... |
OMIM:108300 |
| Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... |
OMIM:616000 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit |
OMIM:119300 |
| Recombinant 8 Syndrome |
|
Anteverted nares, Gingival overgrowth, Abnormality of the dentition, Abnormal oral frenulum morph... |
ORPHA:96167 |
| Holoprosencephaly |
|
Absent nares, Solitary median maxillary central incisor, Hyposmia, Anteverted nares, Anosmia, Med... |
ORPHA:2162 |
| Hypercholanemia, Familial 1 |
|
Rickets, Steatorrhea, Fat malabsorption |
OMIM:607748 |
| Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Microdontia, Bifid uvula, Tongue nodules, Bulbous nose, Bifid tongue |
OMIM:258850 |
| Chitayat Syndrome |
|
Tracheomalacia, Respiratory distress, Anteverted nares, Thick vermilion border, Depressed nasal b... |
OMIM:617180 |
| Odontochondrodysplasia 1 |
|
Long philtrum, Delayed eruption of teeth, Respiratory distress, Delayed ossification of carpal bo... |
OMIM:184260 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Short nose, Tracheomalacia, Respiratory distress, Wide anterior fontanel, Anteverted nares, Micro... |
OMIM:217980 |
| Trisomy 18 |
|
Narrow palate, Short nose, Esophageal atresia, Non-midline cleft of the upper lip, Narrow mouth, ... |
ORPHA:3380 |
| Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxilla, Micrognath... |
OMIM:616367 |
| Faciocardiomelic Dysplasia, Lethal |
|
Retrognathia, Narrow mouth, Micrognathia, Neonatal death, Microglossia |
OMIM:227270 |
| Beta-Thalassemia |
|
Irritability, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microcytic anemia |
ORPHA:848 |
| Solar Urticaria |
|
Abnormal lip morphology, Dyspnea, Abnormal tongue morphology |
ORPHA:97230 |
| Bifid Uvula |
|
Cleft lip, Bifid uvula, Submucous cleft soft palate |
ORPHA:99771 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Rickets, Osteopenia, Retrognathia, Esophagitis, Osteoporosis, Joint stiffness, Micrognathia, Depr... |
ORPHA:1901 |
| Pallister-Hall Syndrome |
|
Short nose, Anteverted nares, Choanal atresia, Anal atresia, Cleft upper lip, Cleft palate, Neona... |
OMIM:146510 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Limited elbow extension, Short philtrum, Low hanging columella, Choanal atresia, Camptodactyly, C... |
OMIM:613385 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Rickets, Osteomalacia, Hypophosphatemic rickets, Abnormality of the dentition |
OMIM:193100 |
| Esophageal Atresia |
|
Respiratory distress, Laryngotracheomalacia, Barrett esophagus, Esophagitis, Tracheoesophageal fi... |
ORPHA:1199 |
| Bilateral Perisylvian Polymicrogyria |
|
Choanal atresia, Protruding tongue, Micrognathia, Apnea, Flexion contracture, Distal arthrogryposis |
ORPHA:98889 |
| Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Proximal tibial and fibular fusion, Craniosynostosis, Tarsal synostosis, Elbow flexion contractur... |
ORPHA:95699 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Retrognathia, Short nose, Widely spaced teeth, Solitary median maxillary central incisor, Short p... |
OMIM:301044 |
| 9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares, Protruding tongue |
DECIPHER:52 |
| Chromosome 18Q Deletion Syndrome |
|
U-Shaped upper lip vermilion, Short philtrum, Mandibular prognathia, Prominent nose, Cleft upper ... |
OMIM:601808 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Wide nasal base, Long philtrum, Joint hypermobility, Tooth malposition, Choanal atresia, Abnormal... |
ORPHA:480880 |
| Pallister-Hall-Like Syndrome |
|
Short nose, Death in infancy, Micrognathia, Cleft palate, Median cleft upper lip, Microglossia, D... |
OMIM:241800 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Delayed pubic bone ossification, Limitation of knee mobility, Delayed cal... |
OMIM:183900 |
| Kniest Dysplasia |
|
Tracheomalacia, Delayed epiphyseal ossification, Respiratory distress, Limitation of joint mobili... |
OMIM:156550 |
| C Syndrome |
|
Short nose, Anteverted nares, Thick anterior alveolar ridges, High palate, Micrognathia, Wide mou... |
OMIM:211750 |
| Gaucher Disease Type 2 |
|
Abnormal pattern of respiration, Flexion contracture, Respiratory distress |
ORPHA:77260 |
| Neu-Laxova Syndrome |
|
Rickets, Osteopenia, Retrognathia, Abnormality of the philtrum, Everted lower lip vermilion, Oste... |
ORPHA:2671 |
| Joubert Syndrome 18 |
|
Retrognathia, Camptodactyly, Cleft palate, Lobulated tongue, Joint hypermobility |
OMIM:614815 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density |
OMIM:241520 |
| Hydrolethalus |
|
Retrognathia, Gingival cleft, Micrognathia, Bifid uvula, Cleft palate, Unilateral cleft lip, Abno... |
ORPHA:2189 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Joint contracture, Respiratory distress |
OMIM:617977 |
| Mulibrey Nanism |
|
Wide nose, Hypodontia, Dental crowding, Enamel hypoplasia, Microglossia, Thickened cortex of long... |
OMIM:253250 |
| Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Accessory oral frenulum |
ORPHA:1373 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Short nose, Short philtrum, Anteverted nares, Downturned corners of mouth, Lobulated tongue, Thin... |
OMIM:613443 |
| Restrictive Dermopathy 2 |
|
Convex nasal ridge, Rectal prolapse, Microretrognathia, Respiratory distress |
OMIM:619793 |
| Radio-Renal Syndrome |
|
Retrognathia, High, narrow palate, Respiratory distress, Dyspnea, Micrognathia, Downturned corner... |
ORPHA:3015 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, High palate, Death in infancy, Irregular respiration, Depressed nasal bridge |
OMIM:604377 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... |
OMIM:613673 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Cleft palate, Anosmia, Osteoporosis |
OMIM:614880 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Widely spaced teeth, Respiratory distress, Carious teeth, Thick vermilion border, Wide nasal brid... |
OMIM:617102 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Long philtrum, Thin upper lip vermilion, Respiratory distress |
OMIM:614741 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Short nose, Thin vermilion border, Anteverted nares, Intestinal malrotation, Velopharyngeal insuf... |
OMIM:614701 |
| Loeys-Dietz Syndrome 5 |
|
Retrognathia, Flexion contracture of toe, Cleft soft palate, High palate, Congenital finger flexi... |
OMIM:615582 |
| Nijmegen Breakage Syndrome |
|
Long nose, Anal stenosis, Choanal atresia, Anal atresia, Cleft upper lip, Micrognathia, Cleft pal... |
OMIM:251260 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Death in childhood, Respiratory distress, Mandibular prognathia, High palate, Death in infancy, J... |
OMIM:620278 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... |
OMIM:605809 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Oligodontia, Exaggerated cupid's bow, Exaggerated median tongue furrow, High palate, Everted lowe... |
OMIM:608670 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Wide nose, Short lingual frenulum, High palate, Midline nasal groove, Asymmetry of the nares, Bro... |
ORPHA:1521 |
| Eec Syndrome |
|
Orofacial cleft, Abnormal dental enamel morphology, Choanal atresia, Microdontia, Tooth agenesis,... |
ORPHA:1896 |
| 1Q41Q42 Microdeletion Syndrome |
|
Cleft palate, Broad nasal tip, Depressed nasal bridge, Thick vermilion border, Submucous cleft ha... |
ORPHA:250999 |
| Monosomy 18Q |
|
Short philtrum, Mandibular prognathia, High palate, Prominent nose, Downturned corners of mouth, ... |
ORPHA:1600 |
| Craniofacioskeletal Syndrome |
|
Short philtrum, Choanal atresia, Micrognathia, Cleft palate, Thin upper lip vermilion |
OMIM:300712 |
| Tetrasomy 5P |
|
Short nose, Respiratory distress, Wide anterior fontanel, Anteverted nares, High palate, Microgna... |
ORPHA:3309 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:300946 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Anteverted nares, Broad alveolar ridges, High palate, Furrowed tongue, Choanal atresia, Micrognat... |
OMIM:616975 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Partial anosmia, Midgut malrotation, Short lingual frenulum, Osteoporosis, Total anos... |
ORPHA:2326 |
| Oromandibular Dystonia |
|
Abnormality of the nose, Abnormality of the temporomandibular joint, Respiratory distress, Abnorm... |
ORPHA:93958 |
| Otospondylomegaepiphyseal Dysplasia |
|
Anteverted nares, Limitation of joint mobility, Glossoptosis, Abnormally ossified vertebrae, Micr... |
ORPHA:1427 |
| 20Q11.2 Microduplication Syndrome |
|
Limited elbow extension, Retrognathia, Short nose, Tented philtrum, Abnormal nasal bridge morphol... |
ORPHA:363659 |
| Lipoid Proteinosis |
|
Thick lower lip vermilion, High palate, Nasal polyposis, Abnormality of the gingiva, Abnormal ora... |
ORPHA:530 |
| Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... |
OMIM:207750 |
| Restrictive Dermopathy |
|
Osteopenia, Temporomandibular joint ankylosis, Narrow mouth, Decreased skull ossification, Choana... |
ORPHA:1662 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
High, narrow palate, Respiratory distress, Anteverted nares, High palate, Smooth philtrum, Long p... |
OMIM:612863 |
| Bazex-Dupre-Christol Syndrome |
|
Low hanging columella, Narrow nasal ridge, Furrowed tongue, Joint hypermobility, Underdeveloped n... |
OMIM:301845 |
| Congenital Myopathy 22B, Severe Fetal |
|
Retrognathia, Short nose, Triangular mouth, Short philtrum, Shoulder flexion contracture, Dental ... |
OMIM:620369 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia |
OMIM:306000 |
| Cardioacrofacial Dysplasia 2 |
|
Short philtrum, Conical tooth, Mandibular prognathia, Prominent nasal tip, Tented upper lip vermi... |
OMIM:619143 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hyperammonemia, Increased C-peptide level, Hypercholesterolemia |
OMIM:620211 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Rectovaginal fistula, Oligodontia, Selective tooth agenesis, Choanal atr... |
OMIM:129900 |
| Abruzzo-Erickson Syndrome |
|
Cleft palate, Radioulnar synostosis |
OMIM:302905 |
| Duane-Radial Ray Syndrome |
|
Aganglionic megacolon, Fused cervical vertebrae, Anal stenosis, Spina bifida occulta, Choanal atr... |
OMIM:607323 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Ear-Patella-Short Stature Syndrome |
|
Retrognathia, High, narrow palate, Respiratory distress, Narrow mouth, Mandibular aplasia, Dyspne... |
ORPHA:2554 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Retrognathia, Thin vermilion border, Death in childhood, Anteverted nares, Protruding tongue, Bif... |
OMIM:612938 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Short philtrum, Hyperextensibility of the finger joints, Choanal atresia, Cleft palate, Overhangi... |
ORPHA:163979 |
| Desmosterolosis |
|
Abnormality of the nose, Retrognathia, Osteopetrosis, Short nose, Increased bone mineral density,... |
ORPHA:35107 |
| Pachyonychia Congenita |
|
Advanced eruption of teeth, Respiratory distress, Angular cheilitis, Natal tooth, Oral leukoplakia |
ORPHA:2309 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Short nose, Narrow nasal bridge, Hypodontia, Respiratory distress, Wrist hypermobility, Flexion c... |
ORPHA:544503 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Abnormal cortical bone morphology, Trismus, Smooth tongue, Respiratory distress, Elbo... |
ORPHA:3206 |
| Smith-Lemli-Opitz Syndrome |
|
Supernumerary tooth, Advanced eruption of teeth, Aganglionic megacolon, Abnormal dental enamel mo... |
ORPHA:818 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thin vermilion border, Spina bifida occulta, Short philtrum, Short lingual frenulum, Narrow mouth... |
OMIM:617360 |
| Craniofaciofrontodigital Syndrome |
|
Osteopenia, Long philtrum, Respiratory distress, Gingival overgrowth, Prominent median palatal ra... |
ORPHA:363705 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Absence of Stensen duct, Selective tooth agenesis, Choanal atresia, Microdontia, D... |
OMIM:604292 |
| Gaucher Disease, Perinatal Lethal |
|
Retrognathia, Short nose, Everted upper lip vermilion, Respiratory distress, Anteverted nares, Na... |
OMIM:608013 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:619239 |
| Orofaciodigital Syndrome X |
|
Retrognathia, Cleft palate, Coalescence of tarsal bones, Depressed nasal bridge |
OMIM:165590 |
| Lacrimoauriculodentodigital Syndrome |
|
Orofacial cleft, Abnormal salivary gland morphology, Arthritis, Abnormal dental enamel morphology... |
ORPHA:2363 |
| Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy |
OMIM:254300 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue fasciculations, Tongue atrophy |
OMIM:613435 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets, Generalized bone demineralization, Rickets of the lower limbs, Delayed epiphyseal ossifi... |
OMIM:600785 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Wide nose, Wide nasal bridge, Microretrognathia, Respiratory distress |
ORPHA:89844 |
| Lethal Faciocardiomelic Dysplasia |
|
Narrow mouth, Radial club hand, Microretrognathia, Microglossia |
ORPHA:1972 |
| Cleidocranial Dysplasia |
|
Supernumerary tooth, High, narrow palate, Spina bifida occulta, Delayed eruption of teeth, Abnorm... |
ORPHA:1452 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Thick lower lip vermilion, Mandibular prognathia, Unilateral cleft palate, Wide mouth, Unilateral... |
OMIM:619103 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Tarsal synostosis, High palate, Narrow mouth, Microdontia, Hypoplasia of the maxilla, Cleft palat... |
ORPHA:1307 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Death in childhood, Respiratory distress, Pyloric stenosis, Decreased calvarial ossif... |
OMIM:613848 |
| Tetraamelia Syndrome 1 |
|
Single naris, Choanal atresia, Anal atresia, Cleft upper lip, Micrognathia, Cleft palate |
OMIM:273395 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Native American Myopathy |
|
High palate, Camptodactyly, Congenital contracture, Micrognathia, Bifid uvula, Cleft palate, Subm... |
ORPHA:168572 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Rickets, Delayed epiphyseal ossification, Delayed eruption of teeth, Carious teeth, Enamel hypopl... |
OMIM:277440 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
| Hypoglossia-Hypodactyly Syndrome |
|
High palate, Narrow mouth, Anal atresia, Death in infancy, Micrognathia, Cleft palate, Hypoplasia... |
ORPHA:989 |
| Chand Syndrome |
|
Agenesis of maxillary incisor, Abnormal oral frenulum morphology, Commissural lip pit, Cleft pala... |
ORPHA:1401 |
| Van Der Woude Syndrome 2 |
|
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit |
OMIM:606713 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| 9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Downturned corners of mouth, Wide nasal ridge, Abnormal tongue morphology |
ORPHA:531151 |
| Cree Mental Retardation Syndrome |
|
Micrognathia, Cleft soft palate |
OMIM:606851 |
| Branchiogenic-Deafness Syndrome |
|
Submucous cleft hard palate, Trismus |
OMIM:609166 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Rickets, Fat malabsorption, Epistaxis |
OMIM:211600 |
| Cleidocranial Dysplasia 1 |
|
Narrow palate, Supernumerary tooth, High, narrow palate, Delayed pubic bone ossification, Respira... |
OMIM:119600 |
| Mandibuloacral Dysplasia |
|
Abnormal tongue morphology, Dental crowding, Osteolytic defects of the distal phalanges of the ha... |
ORPHA:2457 |
| Hereditary Angioedema Type 1 |
|
Respiratory distress, Abnormal soft palate morphology, Dyspnea, Tongue edema, Abnormal uvula morp... |
ORPHA:100050 |
| Seckel Syndrome 2 |
|
Prominent nose, Micrognathia, Microdontia, Microglossia |
OMIM:606744 |
| Cerebrocostomandibular Syndrome |
|
Anal stenosis, Cleft soft palate, Short hard palate, Calcaneal epiphyseal stippling, Elbow flexio... |
OMIM:117650 |
| Prader-Willi Syndrome Due To Translocation |
|
Microdontia of primary teeth, Retrognathia, Short nose, Underdeveloped nasolabial fold, Narrow na... |
ORPHA:177907 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Nocturnal hypoventilation, Death in childhood, Respiratory distress, Tongue fasciculations, Dyspn... |
OMIM:211530 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Narrow palate, Dental crowding, Exaggerated median tongue furrow, Hyperplasia of the maxilla, Ver... |
ORPHA:313892 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia |
OMIM:618849 |
| Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Joint stiffness, Cleft palate, Aplasia/Hypoplasia of the tongue, B... |
ORPHA:2167 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Abnormal intestine morphology, Choanal atresia, Camptodactyly |
ORPHA:228426 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia, Tooth abscess |
ORPHA:89937 |
| Myopathy And Diabetes Mellitus |
|
Achilles tendon contracture, Respiratory distress |
ORPHA:2596 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Widely spaced teeth, Delayed eruption of teeth, Conical tooth, Abnormal dental enamel morphology,... |
ORPHA:1071 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Furrowed tongue |
ORPHA:2928 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
| 22Q11.2 Deletion Syndrome |
|
Long philtrum, Aganglionic megacolon, Short philtrum, Arthritis, Abnormal dental enamel morpholog... |
ORPHA:567 |
| Fanconi Anemia |
|
Aganglionic megacolon, Reduced bone mineral density, Aplasia/Hypoplasia of the uvula, Meckel dive... |
ORPHA:84 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Swollen lip, Tongue edema, Respiratory distress |
ORPHA:100057 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
| Coffin-Siris Syndrome 1 |
|
Duodenal ulcer, Retrognathia, Thick lower lip vermilion, Long philtrum, Spina bifida occulta, Del... |
OMIM:135900 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Cleft hard palate, Delayed eruption of teeth, Dental crowding, Narrow mouth, Micrognathia, Bifid ... |
OMIM:300990 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Everted lower lip vermilion, Protruding tongue, Prominent nasal bridge, Sm... |
ORPHA:324410 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short uvula, Short lingual frenulum, High palate, Microdontia, Fused teeth, Cleft palate, Agenesi... |
OMIM:614091 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Retrognathia, Dental crowding, Long philtrum, Narrow palate, Triangular mouth, Anteverted nares, ... |
OMIM:180700 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Short nose, Cleft soft palate, Anteverted nares, Micrognathia, Submucous cleft soft palate, Wide ... |
ORPHA:2282 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Bifid uvula, Craniosynostosis, Limited shoulder movement, Perineal fistul... |
OMIM:218600 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated circulating creatine kinase concentration, Increased LDL cholesterol concentration, Hype... |
OMIM:616828 |
| Carey-Fineman-Ziter Syndrome |
|
Short nose, Thin vermilion border, Anteverted nares, High palate, Glossoptosis, Micrognathia, Cle... |
ORPHA:1358 |
| Synaptic Congenital Myasthenic Syndromes |
|
Hypoventilation, Exertional dyspnea, Triangular mouth, Respiratory distress, Mandibular prognathi... |
ORPHA:98915 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia |
OMIM:612526 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Bone cyst, Abnormal bone structure, Abnormality of the dentition, Premature loss of primary teeth... |
ORPHA:93160 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Short nose, Abnormality of canine, Oligodontia, Exaggerated cupid's bow, Long upper lip, Everted ... |
ORPHA:364577 |
| Orofaciodigital Syndrome Vi |
|
High palate, Tongue nodules, Incomplete cleft of the upper lip, Micrognathia, Cleft palate, Lobul... |
OMIM:277170 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Concave nasal ridge, Respiratory distress |
OMIM:245590 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Bilateral cleft palate, Micrognathia, Bifid tongue |
ORPHA:2001 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Retrognathia, Fused cervical vertebrae, Respiratory distress, Narrow mouth, Pyloric stenosis, Cor... |
ORPHA:83617 |
| Charge Syndrome |
|
Abnormal soft palate morphology, Delayed eruption of teeth, Abnormality of bone mineral density, ... |
ORPHA:138 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Absent nares, Single naris, Tooth malposition, Hyposmia, Anosmia, Failure of eruption of permanen... |
ORPHA:2250 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Periostitis, Osteopenia, Fused cervical vertebrae, Respiratory distress, Stomatitis, Osteolysis, ... |
OMIM:612852 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... |
OMIM:605814 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress |
ORPHA:26792 |
| Isolated Arrhinia |
|
Tessier cleft, Midline defect of the nose, Respiratory distress, Aplasia/Hypoplasia of the nasal ... |
ORPHA:1134 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Congenital Diaphragmatic Hernia |
|
Intestinal malrotation, Respiratory distress |
ORPHA:2140 |
| Double Outlet Right Ventricle |
|
Narrow mouth, Intestinal malrotation, Tachypnea, Cleft palate, Submucous cleft hard palate, Depre... |
ORPHA:3426 |
| Bronchopulmonary Dysplasia |
|
Tracheobronchomalacia, Dyspnea, Central apnea, Respiratory distress |
ORPHA:70589 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Short nose, Long philtrum, Tracheomalacia, Respiratory distress, Anteverted nares, Hi... |
ORPHA:536467 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Steatorrhea, Gingival overgrowth, Osteoporosis, Joint stiffness, Camptodactyly of fin... |
ORPHA:2176 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Micrognathia, Cleft soft palate |
ORPHA:93316 |
| Cornelia De Lange Syndrome |
|
Short nose, Thin vermilion border, Widely spaced teeth, Delayed eruption of teeth, Anteverted nar... |
ORPHA:199 |
| Pontocerebellar Hypoplasia, Type 1B |
|
Tongue fasciculations, Flexion contracture, Tongue atrophy |
OMIM:614678 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Retrognathia, Short nose, Bilateral choanal atresia, Tracheobronchomalacia, Anteverted nares, Hig... |
OMIM:616462 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy |
ORPHA:216873 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy |
OMIM:616155 |
| Schinzel-Giedion Syndrome |
|
Stiff elbow, Retrognathia, Aganglionic megacolon, Short nose, Short philtrum, Delayed eruption of... |
ORPHA:798 |
| Myhre Syndrome |
|
Thin vermilion border, Gingival cleft, Craniofacial hyperostosis, Mandibular prognathia, Narrow m... |
ORPHA:2588 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Osteopenia, Retrognathia, Thin vermilion border, Low hanging columella, Mandibular prognathia, Gi... |
OMIM:212066 |
| Malaria |
|
Respiratory distress |
ORPHA:673 |
| Achondroplasia |
|
Limited elbow extension, Respiratory distress, Death in infancy, Choanal stenosis, Limited hip ex... |
OMIM:100800 |
| Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Chronic rhinitis, Recurrent upper respiratory tract infections |
ORPHA:922 |
| Proboscis Lateralis |
|
Orofacial cleft, Agenesis of canine, Single naris, Proboscis, High palate, Choanal atresia, Aplas... |
ORPHA:141099 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Tongue atrophy |
OMIM:158900 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tracheomalacia, Dyspnea, Recurrent upper respiratory tract infections, Tach... |
ORPHA:60032 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
High, narrow palate, Abnormal columella morphology, Glossoptosis, Wrist flexion contracture, Micr... |
ORPHA:436003 |
| Hypoglossia-Hypodactylia |
|
Retrognathia, Narrow mouth, Micrognathia, Microglossia, Aglossia |
OMIM:103300 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Broad nasal tip, Submucous cleft hard palate, Thin upper lip vermili... |
OMIM:619680 |
| Branchioskeletogenital Syndrome |
|
Thin vermilion border, Short philtrum, Rootless teeth, Mandibular prognathia, Abnormal dentin mor... |
ORPHA:1299 |
| Respiratory Distress Syndrome In Premature Infants |
|
Tachypnea, Dyspnea, Respiratory distress |
OMIM:267450 |
| Buratti-Harel Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, Bifid uvula, High palate |
OMIM:619314 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress |
ORPHA:91130 |
| Mogs-Cdg |
|
Hypoventilation, Retrognathia, Wide nose, Respiratory distress, High palate, Apnea |
ORPHA:79330 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Rickets, Delayed epiphyseal ossification, Delayed eruption of teeth, Enamel hypoplasia, Sparse bo... |
OMIM:264700 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
High palate, Respiratory distress |
OMIM:619272 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Micrognathia, Cleft palate, Glossoptosis |
ORPHA:440354 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia |
OMIM:146350 |
| Dyskeratosis, Hereditary Benign Intraepithelial |
|
Oral leukoplakia |
OMIM:127600 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Death in childhood, Wide nose, Respiratory distress, Flexion contracture, Thick vermilion border,... |
OMIM:617303 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Rickets, Osteopenia, Retrognathia, Long nose, Dyspnea, Abnormally ossified vertebrae, Osteoporosi... |
ORPHA:2636 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Recurrent upper respiratory tract infections |
OMIM:263000 |
| Limb Body Wall Complex |
|
Spina bifida occulta, Abnormal intestine morphology, Choanal atresia, Cleft palate, Cleft lip, Wi... |
ORPHA:2369 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Short nose, Anteverted nares, Protruding tongue, Micrognathia, Macroglossia, Depressed nasal bridge |
OMIM:242860 |
| Orofaciodigital Syndrome Type 3 |
|
Abnormality of the dentition, Irregular dentition, Bifid uvula, Lobulated tongue, Hamartoma of to... |
ORPHA:2752 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Short philtrum, Rectovaginal fistula, Short lingual frenulum, Bifid nose, Bulbous nose, Anteriorl... |
OMIM:608980 |
| Velocardiofacial Syndrome |
|
Retrognathia, Velopharyngeal insufficiency, Cleft palate, Pierre-Robin sequence, Open mouth, Subm... |
OMIM:192430 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Anteverted nares, High palate, Glossoptosis, Camptodactyly, Narrow mouth, Micrognathi... |
OMIM:611209 |
| Doors Syndrome |
|
Wide nasal base, Broad alveolar ridges, Long philtrum, Narrow palate, Anteverted nares, Abnormali... |
ORPHA:79500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, High palate, Furrowed tongue, Hypoplasia of the maxilla, Micrognathia, Pro... |
OMIM:300534 |
| Laryngotracheal Angioma |
|
Apnea, Intercostal retractions, Respiratory distress |
ORPHA:137935 |
| Tetanus |
|
Respiratory distress, Tachypnea, Stiff neck, Trismus |
ORPHA:3299 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Respiratory distress |
OMIM:616733 |
| Meier-Gorlin Syndrome 1 |
|
Absent sternal ossification, Respiratory distress, High palate, Narrow mouth, Camptodactyly, Deat... |
OMIM:224690 |
| C Syndrome |
|
Short nose, Thin vermilion border, Anteverted nares, Gingival overgrowth, Limitation of joint mob... |
ORPHA:1308 |
| Laryngomalacia |
|
Respiratory distress |
OMIM:150280 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Stillbirth, Unicoronal synostosis, Anal atresia, Incomplete cleft of the upper lip, Cleft palate,... |
OMIM:616300 |
| Campomelic Dysplasia |
|
Absent sternal ossification, Tracheobronchomalacia, Contracture of the distal interphalangeal joi... |
OMIM:114290 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Oral leukoplakia |
OMIM:615735 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Rickets, Death in childhood, Death in adolescence, Osteoporosis |
OMIM:560000 |
| Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Short nose, Dental malocclusion, Hyperextensibility of the finger joints, Anteverted ... |
OMIM:115150 |
| Congenital Myasthenic Syndrome |
|
Sudden episodic apnea, High palate, Apneic episodes precipitated by illness, fatigue, stress, Mic... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Sudden episodic apnea, High palate, Apneic episodes precipitated by illness, fatigue, stress, Mic... |
ORPHA:98914 |
| Pleural Mesothelioma |
|
Dyspnea, Respiratory distress |
ORPHA:50251 |
| Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1 |
|
Choanal atresia |
OMIM:113700 |
| Moebius Syndrome |
|
High palate, Everted lower lip vermilion, Microdontia, Death in infancy, Tooth agenesis, Microgna... |
ORPHA:570 |
| Pallister-Hall Syndrome |
|
Short nose, Anteverted nares, Choanal atresia, Anal atresia, Depressed nasal ridge, Cleft lip, Bi... |
ORPHA:672 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Short nose, Wide anterior fontanel, High palate, Pyloric stenosis, Contracture of the proximal in... |
ORPHA:457279 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Reduced bone mineral density, Laryngotracheomalacia, Glossoptosis, Abnorm... |
ORPHA:94068 |
| Van Der Woude Syndrome |
|
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... |
ORPHA:888 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress |
OMIM:619466 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Death in childhood, High palate, Exertional dyspnea, Respiratory distress |
OMIM:220110 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
| Developmental And Epileptic Encephalopathy 80 |
|
High palate, Death in infancy, Protruding tongue, Micrognathia, Wide mouth, Tented upper lip verm... |
OMIM:618580 |
| Mullegama-Klein-Martinez Syndrome |
|
Long philtrum, Short philtrum, Submucous cleft of soft and hard palate, Micrognathia, Bifid uvula... |
OMIM:301022 |
| Tarp Syndrome |
|
Meckel diverticulum, Anteverted nares, High palate, Glossoptosis, Micrognathia, Cleft palate, Neo... |
OMIM:311900 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Microdontia, Osteoporosis, Carious teeth, Oral leukoplakia, Esophageal stricture |
OMIM:224230 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Rickets, Hypophosphatemic rickets, Osteoarthritis, Enamel hypomineralization, Osteomalacia |
OMIM:307800 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Retrognathia, Trismus, Anteverted nares, High palate, Glossoptosis, Micrognathia, Cleft palate, B... |
OMIM:254940 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Carious teeth, Premature loss of teeth, Oral leukoplakia |
OMIM:616353 |
| Choanal Atresia |
|
Respiratory distress, Craniosynostosis, Nasal congestion, Tracheomalacia |
ORPHA:137914 |
| Otopalatodigital Syndrome Type 2 |
|
Short nose, Tarsal synostosis, Increased bone mineral density, Oligodontia, Glossoptosis, Synosto... |
ORPHA:90652 |
| Anaplastic Thyroid Carcinoma |
|
Dyspnea, Tracheoesophageal fistula, Respiratory distress |
ORPHA:142 |
| 7Q11.23 Microduplication Syndrome |
|
Retrognathia, Thin vermilion border, Abnormal columella morphology, Short philtrum, Tracheomalaci... |
ORPHA:96121 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Tularemia |
|
Oral ulcer, Abnormal nasopharyngeal adenoid morphology, Respiratory distress |
ORPHA:3392 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress |
OMIM:613561 |
| Au-Kline Syndrome |
|
Retrognathia, Short nose, Oligodontia, Bifid nasal tip, High palate, Downturned corners of mouth,... |
OMIM:616580 |
| Lelis Syndrome |
|
Hypodontia, Carious teeth, Mandibular prognathia, Furrowed tongue |
ORPHA:140936 |
| Tylosis With Esophageal Cancer |
|
Esophageal carcinoma, Oral leukoplakia |
OMIM:148500 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Widely spaced teeth, Wide anterior fontanel, High palate, Microdontia, Micrognathia, ... |
OMIM:266920 |
| White Sponge Nevus 1 |
|
Oral leukoplakia |
OMIM:193900 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Stillbirth, Decreased cranial base ossification, Depressed nasal bridge, Respiratory distress |
OMIM:151210 |
| Folinic Acid-Responsive Seizures |
|
Apnea, Respiratory distress |
ORPHA:79097 |
| Fraser Syndrome 1 |
|
Tessier cleft, Difficulty in tongue movements, Cleft ala nasi, Wide nose, Dental crowding, Underd... |
OMIM:219000 |
| Fibrous Dysplasia Of Bone |
|
Rickets, Pathologic fracture, Abnormal bone structure, Cortical irregularity, Abnormal maxilla mo... |
ORPHA:249 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Short nose, Everted upper lip vermilion, Conical tooth, Respiratory distress, Underdeveloped nasa... |
OMIM:305100 |
| Plummer-Vinson Syndrome |
|
Cheilitis, Glossitis, Intra-oral hyperpigmentation, Narrow mouth, Esophageal web, Tongue atrophy |
ORPHA:54028 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Short nose, Triangular mouth, Anteverted nares, Gingival overgrowth, Camptodactyly, Cleft lip, Mi... |
OMIM:616894 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Short nose, Anteverted nares, Abnormal nasopharynx morphology, Choanal stenosis, Thickened cortex... |
OMIM:269150 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Subperiosteal bone formation, Respiratory distress, Anteverted nares, Fractured rib, ... |
OMIM:618188 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress |
ORPHA:254875 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
| Renal Tubular Acidosis, Proximal |
|
Rickets, Osteomalacia |
OMIM:179830 |
| Meier-Gorlin Syndrome 5 |
|
Hypoplasia of the maxilla, Micrognathia, Thick vermilion border, Long philtrum, Submucous cleft h... |
OMIM:613805 |
| Tyrosinemia Type 1 |
|
Rickets of the lower limbs |
ORPHA:882 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Retrognathia, Thin lower lip vermilion, Elbow flexion contracture, Microdontia, Hip contracture, ... |
OMIM:619194 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Delayed eruption of teeth... |
ORPHA:289176 |
| Nipah Virus Disease |
|
Recurrent pharyngitis, Respiratory distress |
ORPHA:99825 |
| Achondrogenesis, Type Ia |
|
Stillbirth, Short nose, Unossified vertebral bodies, Anteverted nares, Abnormal hand bone ossific... |
OMIM:200600 |
| Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Premature loss of teeth, Dyspnea, Osteoporosis, Carious teeth, Oral leukoplakia |
OMIM:127550 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Nocturnal hypoventilation, Intestinal pseudo-obstruction, Abnormality of primary teeth, Tooth age... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Nocturnal hypoventilation, Intestinal pseudo-obstruction, Abnormality of primary teeth, Tooth age... |
ORPHA:352665 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteo... |
OMIM:300554 |
| Pachyonychia Congenita 1 |
|
Oral leukoplakia |
OMIM:167200 |
| Arterial Tortuosity Syndrome |
|
Short nose, Respiratory distress, Dyspnea, Esophagitis, Median cleft palate, Pyloric stenosis, Jo... |
ORPHA:3342 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Rickets, Delayed epiphyseal ossification, Delayed eruption of teeth, Enamel hypoplasia, Sparse bo... |
ORPHA:289157 |
| Stuve-Wiedemann Syndrome 1 |
|
Short nose, Thin vermilion border, Pursed lips, Flexion contracture of toe, Pathologic fracture, ... |
OMIM:601559 |
| Idiopathic Neonatal Atrial Flutter |
|
Tachypnea, Respiratory distress |
ORPHA:45452 |
| Kleefstra Syndrome 1 |
|
Tracheobronchomalacia, Mandibular prognathia, Anteverted nares, Everted lower lip vermilion, Pers... |
OMIM:610253 |
| Primary Dystonia, Dyt4 Type |
|
Movement abnormality of the tongue, Open mouth, Respiratory distress |
ORPHA:98805 |
| Nicolaides-Baraitser Syndrome |
|
Short nose, High, narrow palate, Thick lower lip vermilion, Wide nasal base, Widely spaced teeth,... |
OMIM:601358 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Retrognathia, Long nose, Neoplasm of the tongue, Prominent nose, Camptodactyly of finger, Microgn... |
ORPHA:3047 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Retrognathia, Short philtrum, Anteverted nares, High palate, Furrowed tongue, Everted lower lip v... |
OMIM:616449 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Long philtrum, Depressed nasal bridge, Respiratory distress |
OMIM:617895 |
| Congenital Lobar Emphysema |
|
Respiratory distress |
ORPHA:1928 |
| Celiac Disease, Susceptibility To, 1 |
|
Rickets, Steatorrhea, Recurrent aphthous stomatitis, Stomatitis, Osteoporosis, Enamel hypoplasia,... |
OMIM:212750 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ... |
OMIM:600081 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
| Cohen Syndrome |
|
High, narrow palate, Short philtrum, Gingival overgrowth, Abnormality of the dentition, Tooth age... |
ORPHA:193 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets, Steatorrhea, Fat malabsorption |
OMIM:607765 |
| Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Squamous cell carcinoma of the tongue, Oral leukoplakia |
OMIM:613988 |
| Ritscher-Schinzel Syndrome 2 |
|
Short philtrum, Wide anterior fontanel, High palate, Camptodactyly, Protruding tongue, Intestinal... |
OMIM:300963 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Dyspnea, Respiratory distress |
ORPHA:86812 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Death in childhood, Respiratory distress |
OMIM:615597 |
| Myopathy, Myofibrillar, 7 |
|
Shoulder flexion contracture, Elbow flexion contracture, Achilles tendon contracture, Flexion con... |
OMIM:617114 |
| Rodrigues Blindness |
|
Tooth malposition, Nasal flaring, Narrow nasal bridge |
OMIM:268320 |
| Frontorhiny |
|
Midline nasal groove, Hypoplasia of the maxilla, Camptodactyly of finger, Cleft palate, Bifid tongue |
ORPHA:391474 |
| Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
| Icf Syndrome |
|
Micrognathia, Macroglossia, Depressed nasal bridge, Protruding tongue |
ORPHA:2268 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recur... |
OMIM:241530 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short nose, Cleft soft palate, Intestinal malrotation, Downturned corners of mouth, Flexion contr... |
OMIM:619321 |
| You-Hoover-Fong Syndrome |
|
Accessory oral frenulum, Cleft palate |
OMIM:616954 |
| Pachyonychia Congenita 2 |
|
Natal tooth, Angular cheilitis, Oral leukoplakia |
OMIM:167210 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... |
ORPHA:247598 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Micrognathia, Flexion contracture, Trismus, Bulbous nose |
OMIM:616271 |
| Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormality of mouth shape, Depressed nasal ridge, Abnormal intramembr... |
ORPHA:3003 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Tachypnea, Death in infancy |
OMIM:614299 |
| Chronic Pneumonitis Of Infancy |
|
Hyperventilation, Tachypnea, Intercostal retractions, Respiratory distress |
ORPHA:91359 |
| Keppen-Lubinsky Syndrome |
|
Short philtrum, Narrow nasal bridge, Prominent nasal tip, Gingival overgrowth, High palate, Dyspn... |
ORPHA:435628 |
| Sickle Cell Anemia |
|
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... |
ORPHA:232 |
| Mgat2-Cdg |
|
Osteopenia, Low hanging columella, Respiratory distress, Dental crowding, Recurrent upper and low... |
ORPHA:79329 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Esophageal varix, Flexion contracture, Respiratory distress |
ORPHA:367 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Oligodontia, High palate, Furrowed tongue, Downturned corners of mouth, Cleft palate,... |
ORPHA:453499 |
| Ziegler-Huang Syndrome |
|
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia |
OMIM:620501 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Rickets, Recurrent fractures, Osteomalacia |
OMIM:613388 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
| Psoriasis 14, Pustular |
|
Geographic tongue, Furrowed tongue, Oligoarthritis |
OMIM:614204 |
| Developmental And Epileptic Encephalopathy 68 |
|
Flexion contracture, Respiratory distress |
OMIM:618201 |
| Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Esophageal stenosis, Abnormality of the dentition, Oral leukoplakia |
OMIM:616553 |
| Acquired Hypertrichosis Lanuginosa |
|
Glossitis, Macroglossia |
ORPHA:2221 |
| Zttk Syndrome |
|
Short nose, Thin vermilion border, Intestinal atresia, Short philtrum, High palate, Abnormality o... |
OMIM:617140 |
| Dubowitz Syndrome |
|
Rectal prolapse, Anal stenosis, Spina bifida occulta, Delayed eruption of teeth, Wide anterior fo... |
ORPHA:235 |
| Holoprosencephaly 13, X-Linked |
|
Solitary median maxillary central incisor, Median cleft palate, Micrognathia, Cleft palate, Aplas... |
OMIM:301043 |
| X-Linked Hypophosphatemia |
|
Rickets, Reduced bone mineral density, Vertebral hyperostosis, Arthritis, Abnormal dentin morphol... |
ORPHA:89936 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Osteopenia, Small joint hypermobilty, Large joint hypermobilty, Cleft soft palate |
OMIM:614557 |
| Tolchin-Le Caignec Syndrome |
|
High palate, Narrow mouth, Micrognathia, Prominent nose, Submucous cleft hard palate, Wide nasal ... |
OMIM:618971 |
| Severe Acute Respiratory Syndrome |
|
Dyspnea, Respiratory distress |
ORPHA:140896 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, High palate, Carious teeth, Velopharyngeal insufficiency, Micrognathia... |
OMIM:223370 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Reduced bone mineral density, Pathologic fracture, Hypophosphatemic rickets |
ORPHA:157215 |
| Ellis Van Creveld Syndrome |
|
Thin vermilion border, Delayed eruption of teeth, Conical incisor, Synostosis of carpal bones, Mi... |
ORPHA:289 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent... |
OMIM:238600 |
| Microlissencephaly-Micromelia Syndrome |
|
Long philtrum, Short nose, Respiratory distress |
ORPHA:50810 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Increased bone mineral density, Anteverted nares, Coarse metaphyseal trabecularization, Choanal s... |
OMIM:620558 |
| Rubinstein-Taybi Syndrome 1 |
|
Retrognathia, Dental crowding, Joint hypermobility, Narrow palate, Talon cusp, Cleft palate, Thin... |
OMIM:180849 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Wide anterior fontanel, Neonatal death, Central apnea, Depressed nasal bridge |
OMIM:616482 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue fasciculations, Tongue atrophy |
OMIM:601596 |
| Cowden Syndrome 5 |
|
High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hypoplasia of the maxilla, M... |
OMIM:615108 |
| Orofaciodigital Syndrome Type 14 |
|
Supernumerary tooth, Aplasia of the epiglottis, Cleft palate, Lobulated tongue, Microretrognathia... |
ORPHA:434179 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:615812 |
| Catel-Manzke Syndrome |
|
Low insertion of columella, High palate, Glossoptosis, Camptodactyly, Narrow mouth, Cleft upper l... |
OMIM:616145 |
| Blomstrand Lethal Chondrodysplasia |
|
Short nose, Increased bone mineral density, Anteverted nares, Synostosis of joints, Protruding to... |
ORPHA:50945 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue fasciculations, Tongue atrophy |
OMIM:620285 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Retrognathia, Dental crowding, Tooth agenesis, Wide mouth, Joint hypermobility, Long philtrum, Na... |
OMIM:268310 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Retrognathia, High, narrow palate, Short philtrum, Anteverted nares, Mandibular prognathia, Promi... |
ORPHA:464738 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
| Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Stomach cancer, Furrowed tongue, Hamartomatous polyposis, Colon cancer, Hyp... |
ORPHA:2930 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Wide anterior fontanel, Neonatal death, Depressed nasal bridge, Respiratory distress |
OMIM:231680 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Deviated nasal septum, High, narrow palate, Widely spaced teeth, Short philtrum, Narrow nasal bri... |
OMIM:300967 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Anteverted nares, Short nose, Glossoptosis, Underdeveloped nasal alae |
ORPHA:2031 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Rickets, Steatorrhea, Fat malabsorption |
ORPHA:79303 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Mccune-Albright Syndrome |
|
Aneurysmal bone cyst, Polyostotic fibrous dysplasia, Nasal congestion, Monostotic fibrous dysplas... |
ORPHA:562 |
| Stickler Syndrome |
|
Reduced bone mineral density, Glossoptosis, Tooth agenesis, Bifid uvula, Long philtrum, Joint hyp... |
ORPHA:828 |
| Acquired Methemoglobinemia |
|
Confusion, Methemoglobinemia |
ORPHA:464453 |
| Hereditary Mucoepithelial Dysplasia |
|
Gingival overgrowth, Furrowed tongue, Tracheoesophageal fistula |
ORPHA:1839 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Esophageal stricture, Abnormality of the dentition, Osteoporosis, Oral leukoplakia |
OMIM:613989 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:617660 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Cheilitis, Dental crowding, Everted lower lip vermilion, Death in infancy, Joint stiffness, Tooth... |
ORPHA:534 |
| Abruzzo-Erickson Syndrome |
|
Abnormal palate morphology, Cleft palate, Radioulnar synostosis |
ORPHA:921 |
| Acro-Renal-Mandibular Syndrome |
|
Orofacial cleft, Short philtrum, High palate, Tracheoesophageal fistula, Micrognathia, Hypoplasia... |
ORPHA:958 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Tarsal synostosis, Wide nose, Choanal atresia, Camptodactyly, Humeroradial synostosis, Depressed ... |
OMIM:201750 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Respiratory distress |
OMIM:620375 |
| Arboleda-Tham Syndrome |
|
Short philtrum, Low hanging columella, Peg-shaped maxillary lateral incisors, Respiratory distres... |
OMIM:616268 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short philtrum, Respiratory distress, Wide nose, Recurrent upper respiratory tract infections, Th... |
OMIM:607143 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Accessory oral frenulum, Cleft palate, Hamartoma of tongue, Depressed nasal bridge |
OMIM:616546 |
| Cowden Syndrome 6 |
|
High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hypoplasia of the maxilla, M... |
OMIM:615109 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Hyperventilation, Wide mouth, Protruding tongue |
OMIM:614325 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Exertional dyspnea, Respiratory distress, Dyspnea, Death in infancy, Neonatal death, Apnea, Tachy... |
OMIM:610921 |
| Nasolacrimal Duct Cyst |
|
Deviated nasal septum, Intercostal retractions, Nasal congestion, Paroxysmal dyspnea, Episodic re... |
ORPHA:141083 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
| Limb-Mammary Syndrome |
|
Cleft hard palate, Bifid uvula, Submucous cleft soft palate, Cleft palate, Hypodontia, Cleft lip |
ORPHA:69085 |
| Ciliary Dyskinesia, Primary, 2 |
|
Nasal polyposis, Respiratory distress |
OMIM:606763 |
| Cerebrocostomandibular Syndrome |
|
Tracheomalacia, Short hard palate, Glossoptosis, Death in infancy, Micrognathia, Cleft palate |
ORPHA:1393 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Supernumerary tooth, Aplasia of the epiglottis, Respiratory distress, Depressed nasal bridge, Hyp... |
OMIM:617088 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Elbow flexion contracture, Furrowed tongue, Microdontia, Knee flexion contracture, Oral leukoplakia |
OMIM:148210 |
| Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
| Dominant Beta-Thalassemia |
|
Irritability, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration,... |
ORPHA:231226 |
| Congenital Laryngeal Web |
|
Respiratory distress |
ORPHA:2374 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
| Dent Disease 1 |
|
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Recurrent fractur... |
OMIM:300009 |
| Isolated Cleft Lip |
|
Supernumerary maxillary incisor, Non-midline cleft of the upper lip, Velopharyngeal insufficiency... |
ORPHA:199302 |
| Acute Lung Injury |
|
Tachypnea, Dyspnea, Respiratory distress |
ORPHA:178320 |
| Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Pathologic fracture |
OMIM:179800 |
| Beta-Thalassemia Major |
|
Anisopoikilocytosis, Irritability, Hypochromic microcytic anemia, Decreased mean corpuscular hemo... |
ORPHA:231214 |
| Tarp Syndrome |
|
Anteverted nares, Glossoptosis, Micrognathia, Cleft palate, Pierre-Robin sequence, Abnormal duode... |
ORPHA:2886 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Marden-Walker Syndrome |
|
Retrognathia, Narrow mouth, Pyloric stenosis, Joint stiffness, Camptodactyly of finger, Bifid uvu... |
ORPHA:2461 |
| Autosomal Dominant Robinow Syndrome |
|
Retrognathia, Long philtrum, Anodontia, Short philtrum, Anteverted nares, Oligodontia, Depressed ... |
ORPHA:3107 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress |
ORPHA:79312 |
| Vater/Vacterl Association |
|
Esophageal atresia, Choanal atresia, Anal atresia, Tracheoesophageal fistula, Abnormal nasopharyn... |
OMIM:192350 |
| Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:277460 |
| Melkersson-Rosenthal Syndrome |
|
Cheilitis, Macroglossia, Furrowed tongue |
ORPHA:2483 |
| Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F, Hepatosplenomegaly, S... |
ORPHA:231222 |
| Galactokinase Deficiency |
|
Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia |
ORPHA:79237 |
| Viss Syndrome |
|
Retrognathia, Intestinal malrotation, Malposition of the stomach, Bifid uvula, Joint hypermobilit... |
OMIM:619472 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets |
OMIM:611590 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Widely spaced teeth, Short lingual frenulum, Microdontia, Flexion contracture, Long philtrum, Wid... |
OMIM:619479 |
| Walker-Warburg Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:899 |
| Acromelic Frontonasal Dysostosis |
|
Midline defect of the nose, Midline facial cleft, Bifid nasal tip, Cleft upper lip, Cleft palate,... |
OMIM:603671 |
| Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress |
ORPHA:2414 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Cheilitis, Aganglionic megacolon, Abnormal dental enamel morphology, Choanal atresia, Camptodacty... |
ORPHA:2273 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
| Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia |
ORPHA:86816 |
| Citrullinemia Type Ii |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... |
ORPHA:247585 |
| Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Respiratory distress |
OMIM:250940 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Dental crowding, Agenesis of permanent teeth, Wide mouth, Joint hypermobility, Esophageal varix, ... |
OMIM:619503 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Tachypnea, Respiratory distress |
ORPHA:264675 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Dyspnea, Respiratory distress |
ORPHA:411703 |
| Cardiofaciocutaneous Syndrome |
|
Short nose, Anteverted nares, High palate, Hypoplasia of the zygomatic bone, Long philtrum, Submu... |
ORPHA:1340 |
| Avian Influenza |
|
Tachypnea, Miscarriage, Dyspnea, Respiratory distress |
ORPHA:454836 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Exertional dyspnea, Difficulty in tongue movements, Respiratory distress, Osteoporosis, Orthopnea... |
ORPHA:365 |
| Charge Syndrome |
|
Anal stenosis, Esophageal atresia, Anosmia, Tracheoesophageal fistula, Anal atresia, Choanal atre... |
OMIM:214800 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Short nose, Respiratory distress, Joint stiffness, Thick vermilion border, Flexion contracture, M... |
ORPHA:505248 |
| Rabson-Mendenhall Syndrome |
|
Advanced eruption of teeth, Wide nose, Anteverted nares, Mandibular prognathia, Dental crowding, ... |
ORPHA:769 |
| Diamond-Blackfan Anemia |
|
Cleft soft palate, High palate, Adenocarcinoma of the colon, Micrognathia, Cleft lip, Wide nasal ... |
ORPHA:124 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Rickets, Osteopenia, Reduced bone mineral density, Esophageal varix, High palate, Intestinal malr... |
OMIM:613658 |
| Hardikar Syndrome |
|
Gastric varix, Cleft soft palate, Bilateral cleft palate, Esophageal varix, Unilateral cleft pala... |
OMIM:301068 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Dyspnea, Intermittent hyperventilation, Apneic episodes in infancy, Episodi... |
ORPHA:348 |
| Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
ORPHA:927 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Craniosynostosis, Micrognathia, Bifid uvula |
OMIM:601374 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Macroglossia, Difficulty in tongue movements, Respiratory distress |
ORPHA:308552 |
| Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
| Thyroid Lymphoma |
|
Dyspnea, Respiratory distress |
ORPHA:97285 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
| Dyskeratosis Congenita |
|
Periodontitis, Abnormality of the dentition, Osteoporosis, Tracheoesophageal fistula, Hypoplasia ... |
ORPHA:1775 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress |
OMIM:212140 |
| Occipital Horn Syndrome |
|
Rickets, Osteopenia, High, narrow palate, Long philtrum, Esophagitis, Osteoporosis, Synostosis of... |
ORPHA:198 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Oral leukoplakia |
OMIM:613987 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Tachypnea, Anteriorly placed anus, Episodic tachypnea, Respiratory distress |
ORPHA:26793 |
| Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
| X-Linked Agammaglobulinemia |
|
Arthritis, Glossoptosis, Osteomyelitis |
ORPHA:47 |
| Holoprosencephaly 2 |
|
Solitary median maxillary central incisor, Proboscis, Bilateral cleft palate, Median cleft palate... |
OMIM:157170 |
| Fanconi Renotubular Syndrome 3 |
|
Rickets |
OMIM:615605 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Supernumerary tooth, Retrognathia, Short nose, Widely spaced teeth, Cleft soft palate, Pyloric st... |
ORPHA:268261 |
| Farber Disease |
|
Respiratory distress, Arthritis, Osteoporosis, Flexion contracture, Recurrent upper respiratory t... |
ORPHA:333 |
| Isolated Atp Synthase Deficiency |
|
Respiratory distress |
ORPHA:254913 |
| Pachyonychia Congenita 3 |
|
Gingivitis, Furrowed tongue, Chapped lip, Oral leukoplakia |
OMIM:615726 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Oral leukoplakia |
OMIM:619767 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Rickets, Steatorrhea, Osteoporosis, Osteomalacia, Colitis |
ORPHA:309031 |
| Shwachman-Diamond Syndrome 1 |
|
Steatorrhea, Irregular ossification at anterior rib ends, Respiratory distress |
OMIM:260400 |
| Amyotrophic Lateral Sclerosis |
|
Dyspnea, Xerostomia, Tongue atrophy |
ORPHA:803 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Submucous cleft hard palate, Flexion contracture, Narrow nose |
OMIM:618891 |
| Microphthalmia, Syndromic 2 |
|
Supernumerary tooth, Long philtrum, Radiculomegaly, Dental malocclusion, Delayed eruption of teet... |
OMIM:300166 |
| Adnp Syndrome |
|
Advanced eruption of teeth, Thick lower lip vermilion, Respiratory distress, Smooth philtrum, Rec... |
ORPHA:404448 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... |
OMIM:619662 |
| Dysbetalipoproteinemia |
|
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... |
ORPHA:412 |
| Spinocerebellar Ataxia 36 |
|
Tongue fasciculations, Tongue atrophy |
OMIM:614153 |
| Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Respiratory distress |
ORPHA:79242 |
| Cryptogenic Organizing Pneumonia |
|
Dyspnea, Respiratory distress |
ORPHA:1302 |
| Lead Poisoning |
|
Abnormal T cell morphology, Anemia, Memory impairment, Depression, Cognitive impairment, Attentio... |
ORPHA:330015 |
| Cowden Syndrome 1 |
|
High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hypoplasia of the maxilla, M... |
OMIM:158350 |
| Staphylococcal Necrotizing Pneumonia |
|
Tachypnea, Dyspnea, Respiratory distress |
ORPHA:36238 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Glossitis, Protein-losing enteropathy, Xerostomia, Hamartomatous polyposis |
OMIM:175500 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased LDL cholest... |
OMIM:278000 |
| Hereditary Folate Malabsorption |
|
Glossitis, Eosinophilia, Cheilitis |
ORPHA:90045 |
| Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
| Spinocerebellar Ataxia Type 36 |
|
Tongue fasciculations, Tongue atrophy |
ORPHA:276198 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress |
OMIM:620166 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Osteoporosis, Intestinal bleeding, Oral leukoplakia, Pathologic fracture, Increased s... |
OMIM:612199 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Bone Marrow Failure Syndrome 5 |
|
Oral leukoplakia |
OMIM:618165 |
| Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Respiratory distress, Anal atresia, Tracheoesophageal fistula, Intestinal ... |
ORPHA:210122 |
| Hartnup Disease |
|
Glossitis, Gingivitis |
ORPHA:2116 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Osteopenia, Esophageal stricture, Osteoporosis, Oral leukoplakia |
OMIM:613990 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Peptic ulcer, Osteomalacia |
OMIM:600740 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancolitis, Inflammation of the large intestine, Esophageal stricture, Oral leukoplakia |
OMIM:620133 |
| Ulbright-Hodes Syndrome |
|
Thin vermilion border, Respiratory distress, Long upper lip, High palate, Narrow mouth, Humerorad... |
ORPHA:3404 |
| Coffin-Siris Syndrome 12 |
|
Low hanging columella, Anteverted nares, Prominent nasal tip, High palate, Velopharyngeal insuffi... |
OMIM:619325 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Anteverted nares, High palate, Protruding tongue, Micrognathia, Joint hypermobility, Wide nasal b... |
OMIM:617062 |
| Slc35A1-Cdg |
|
Respiratory distress |
ORPHA:238459 |
| Cystinosis |
|
Rickets |
ORPHA:213 |
| Myotonic Dystrophy 1 |
|
Respiratory distress |
OMIM:160900 |
| Inhalational Anthrax |
|
Dyspnea, Respiratory distress |
ORPHA:247257 |
| N-Acetylglutamate Synthase Deficiency |
|
Tachypnea, Respiratory distress |
OMIM:237310 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Cheilitis, Angular cheilitis, Oral leukoplakia |
OMIM:616295 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
| Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia |
ORPHA:528 |
| Townes-Brocks Syndrome 1 |
|
Anal stenosis, Rectovaginal fistula, Choanal atresia, Anal atresia, Tracheoesophageal fistula, Re... |
OMIM:107480 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Retrognathia, Wide nose, Respiratory distress, Abnormal dental enamel morphology, Abnormal rectum... |
ORPHA:2556 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Erosion of oral mucosa, Respiratory distress, Dyspnea, Osteoporosis, Enamel hypoplasia, Abnormal ... |
ORPHA:79404 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Glossitis, Cleft palate, Stomatitis |
ORPHA:79284 |
| Peters-Plus Syndrome |
|
Limited elbow movement, Thin vermilion border, Widely spaced teeth, Long philtrum, Conical inciso... |
OMIM:261540 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
| Sitosterolemia 1 |
|
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Hyperapobe... |
OMIM:210250 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Short nose, Thin vermilion border, Hyperextensible hand joints, Short philtrum, Hyperextensibilit... |
ORPHA:500150 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
| Meconium Aspiration Syndrome |
|
Respiratory distress |
ORPHA:70588 |
| Kindler Syndrome |
|
Anal stenosis, Periodontitis, Gingivitis, Carious teeth, Oral leukoplakia, Esophageal stenosis |
OMIM:173650 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Apnea, Macroglossia, Respiratory distress |
OMIM:261740 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Gastritis, Respiratory distress, Abnormal intestine morphology, Ileus, Osteomyelitis, Colitis |
ORPHA:37042 |
| Oculopharyngodistal Myopathy 1 |
|
High palate, Respiratory distress |
OMIM:164310 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Tachypnea, Respiratory distress |
OMIM:610978 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Glossitis, Respiratory distress, Smooth philtrum, Stomatitis |
ORPHA:79282 |
| Mercury Poisoning |
|
Dyspnea, Respiratory distress |
ORPHA:330021 |
| Dent Disease |
|
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Recurrent fractur... |
ORPHA:1652 |
| Congenital Disorder Of Deglycosylation 1 |
|
Anteverted nares, Open mouth, Osteoporosis, Respiratory distress |
OMIM:615273 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachypnea, Nasal flaring |
ORPHA:70587 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Arthritis, Septic arthritis, Tachypnea, Osteomyelitis |
ORPHA:36234 |
| Acrodermatitis Enteropathica |
|
Glossitis, Cheilitis, Furrowed tongue, Abnormality of the tongue |
ORPHA:37 |
| Fanconi-Bickel Syndrome |
|
Rickets, Osteopenia |
ORPHA:2088 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Glossitis, Stomatitis, High palate, Tracheoesophageal fistula, Thin upper lip vermilion |
OMIM:277380 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Rickets, Hypophosphatemic rickets |
OMIM:612089 |
| Odontoonychodermal Dysplasia |
|
Smooth tongue, Conical incisor, Abnormality of primary teeth, Hypodontia, Agenesis of permanent t... |
OMIM:257980 |
| Short-Rib Thoracic Dysplasia 12 |
|
Median cleft palate, Intestinal malrotation, Neonatal death, Lobulated tongue, Natal tooth, Hamar... |
OMIM:269860 |
| Giant Cell Arteritis |
|
Recurrent pharyngitis, Glossitis, Arthritis, Joint stiffness, Epistaxis |
ORPHA:397 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Japanese Encephalitis |
|
Stiff neck, Respiratory distress, Elbow flexion contracture, Irregular respiration, Abnormal patt... |
ORPHA:79139 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Anal atresia, Intestinal malrotation, Cleft upper lip, Cleft palate, Hamartoma of tongue, Bifid t... |
OMIM:613091 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Nasal flaring, Downturned corners of mouth, Wide mouth, Broad nasal tip, Bulbous nose, Wide nasal... |
ORPHA:466943 |
| Generalized Pustular Psoriasis |
|
Geographic tongue, Cheilitis, Arthritis |
ORPHA:247353 |
| 8Q24.3 Microdeletion Syndrome |
|
Long philtrum, Mesiodens, Spina bifida occulta, Respiratory distress, Anteverted nares, Broad nas... |
ORPHA:508488 |
| Vascular Ehlers-Danlos Syndrome |
|
Thin vermilion border, High, narrow palate, Narrow nasal bridge, Periodontitis, Gingival overgrow... |
ORPHA:286 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress |
OMIM:615595 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
| Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Osteolysis, Dyspnea |
ORPHA:1546 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Wrist flexion contracture, Knee flexion contracture |
OMIM:618733 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress |
OMIM:251000 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Orofacial cleft, Apnea, Flexion contracture, Respiratory distress |
ORPHA:17 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets |
OMIM:616026 |
| Distal Deletion 15Q |
|
Short philtrum, Abnormality of the dentition, Micrognathia, Cleft palate, Broad nasal tip, Bifid ... |
ORPHA:1596 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Smooth tongue, Craniosynostosis, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79396 |
| Congenital Tracheomalacia |
|
Esophageal atresia, Intercostal retractions, Tracheomalacia, Tracheobronchomalacia, Dyspnea, Trac... |
ORPHA:95430 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Dental crowding, Bifid uvula, Aganglionic megacolon, Short philtrum, Tooth malposition, Camptodac... |
ORPHA:261537 |
| Hoyeraal-Hreidarsson Syndrome |
|
Oral leukoplakia |
ORPHA:3322 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Cheilitis, Anoperineal fistula, Abnormal tongue morphology, Abnormality of the dentition, Abnorma... |
ORPHA:158668 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... |
OMIM:617052 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Arthritis, Myelofibrosis, Dyspnea, Eosinophilia, Colitis |
ORPHA:3260 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Tessier cleft, Absent or minimally ossified vertebral bodies, Esophageal atresia, Wide nose, Abno... |
ORPHA:93271 |
| Mowat-Wilson Syndrome |
|
Dental crowding, Everted lower lip vermilion, Bifid uvula, Aganglionic megacolon, Tooth malpositi... |
ORPHA:2152 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Aganglionic megacolon, Death in childhood, Death in infancy, Neonatal death, Cleft palate, Choana... |
OMIM:308205 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
| Neuroblastoma |
|
Pathologic fracture, Respiratory distress |
ORPHA:635 |
| Infantile Krabbe Disease |
|
Respiratory distress |
ORPHA:206436 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in adolescence, Death in infancy |
OMIM:615512 |
| Lujo Hemorrhagic Fever |
|
Rhinitis, Stiff neck, Respiratory distress |
ORPHA:319213 |
| Alternating Hemiplegia Of Childhood |
|
Apnea, Downturned corners of mouth, Exaggerated cupid's bow, Respiratory distress |
ORPHA:2131 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Death in childhood, Respiratory distress, Death in infancy, Apnea, Hypopnea |
OMIM:618426 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Dental crowding, Abnormal jaw morphology, Bifid uvula, Aganglionic megacolon, Short philtrum, Too... |
ORPHA:261552 |
| Dyskeratosis Congenita, Digenic |
|
Abnormality of the dentition, Oral leukoplakia |
OMIM:620040 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Dyspnea, Respiratory distress |
OMIM:115197 |
| Congenital Enterovirus Infection |
|
Respiratory distress |
ORPHA:292 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Retrognathia, Short philtrum, Hypodontia, Anteverted nares, Premature loss of teeth, ... |
ORPHA:3455 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Depression, Anemia, Abnormal hemoglobin |
ORPHA:847 |
| Fanconi-Bickel Syndrome |
|
Rickets, Osteomalacia |
OMIM:227810 |
| Fraser Syndrome |
|
Orofacial cleft, Anal stenosis, Cleft ala nasi, Dental crowding, Ectopic anus, Underdeveloped nas... |
ORPHA:2052 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Short nose, Cervical C2/C3 vertebral fusion, Tracheomalacia, Anteverted nares, High palate, Gloss... |
ORPHA:444077 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia |
ORPHA:99867 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Flexion contracture of finger, Tongue atrophy |
ORPHA:101085 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Meckel diverticulum, Dyspnea, Anal atresia, Tracheoesophageal fistula, Duod... |
ORPHA:141127 |
| Cocaine Intoxication |
|
Respiratory distress, Colitis, Intestinal perforation, Tachypnea, Hyperventilation |
ORPHA:90068 |
| Sepsis In Premature Infants |
|
Enterocolitis, Dyspnea, Nasal flaring |
ORPHA:90051 |
| Okamoto Syndrome |
|
Short nose, Anal stenosis, Anteverted nares, Underdeveloped nasal alae, Open bite, Exaggerated me... |
ORPHA:2729 |
| Toxic Epidermal Necrolysis |
|
Intestinal perforation, Tracheoesophageal fistula, Respiratory distress |
ORPHA:537 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
| Yunis-Varon Syndrome |
|
Thin vermilion border, High, narrow palate, Narrow nasal base, Broad secondary alveolar ridge, Sh... |
ORPHA:3472 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
| Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia, Furrowed tongue, Erythematous oral mucosa |
OMIM:158310 |
| Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation |
ORPHA:79241 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Hypoventilation, Tongue fasciculations, Difficulty in tongue movements, Tongue atrophy |
ORPHA:99949 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hyperammonemia, Hypercholesterolemia |
OMIM:620454 |
| Brain-Lung-Thyroid Syndrome |
|
Hypodontia, Respiratory distress |
ORPHA:209905 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Tachypnea, Dyspnea, Respiratory distress |
OMIM:610913 |
| Ethylene Glycol Poisoning |
|
Tachypnea, Episodic respiratory distress, Gastritis, Abnormal pattern of respiration |
ORPHA:31826 |
| Orofaciodigital Syndrome Xiv |
|
Supernumerary tooth, Aplasia of the epiglottis, Micrognathia, Cleft palate, Lobulated tongue, Nat... |
OMIM:615948 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress |
ORPHA:2519 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
U-Shaped upper lip vermilion, Widely-spaced maxillary central incisors, Thick lower lip vermilion... |
OMIM:309580 |
| Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
| Dyskeratosis Congenita, X-Linked |
|
Premature loss of teeth, Osteoporosis, Carious teeth, Oral leukoplakia, Esophageal stricture, Ana... |
OMIM:305000 |
| Plague |
|
Respiratory distress, Glossitis, Arthritis, Inflammation of the large intestine, Enterocolitis, I... |
ORPHA:707 |
| Lysinuric Protein Intolerance |
|
Hypertriglyceridemia, Hyperglycinemia, Steatorrhea, Decreased HDL cholesterol concentration, Elev... |
ORPHA:470 |
| Familial Hypocalciuric Hypercalcemia |
|
Peptic ulcer, Osteomalacia |
ORPHA:405 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
| Wilson Disease |
|
Hyposmia, Esophageal varix, Osteoporosis, Osteoarthritis, Osteomalacia, Joint hypermobility |
OMIM:277900 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Osteomyelitis leading to amputation due to slow healing fractures, Respiratory distress, Increase... |
OMIM:256810 |
| Imerslund-Gräsbeck Syndrome |
|
Glossitis, Angular cheilitis |
ORPHA:35858 |
| Mowat-Wilson Syndrome |
|
Aganglionic megacolon, Widely spaced teeth, Delayed eruption of teeth, Low hanging columella, Too... |
OMIM:235730 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Difficulty in tongue movements, Tongue atrophy |
ORPHA:99956 |
| Meckel Syndrome, Type 1 |
|
Anal atresia, Intestinal malrotation, Camptodactyly of finger, Micrognathia, Cleft palate, Lobula... |
OMIM:249000 |
| Lowe Oculocerebrorenal Syndrome |
|
Rickets, Pathologic fracture, Osteomalacia, Camptodactyly of finger, Enamel hypoplasia, Joint hyp... |
OMIM:309000 |
| Distal Renal Tubular Acidosis |
|
Rickets, Osteomalacia, Reduced bone mineral density, Increased susceptibility to fractures |
ORPHA:18 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Orofacial cleft, Wide anterior fontanel, High palate, Camptodactyly, Depressed nasal ridge, Campt... |
OMIM:607872 |
| Coccidioidomycosis |
|
Respiratory distress, Arthritis, Osteolysis, Eosinophilia, Osteomyelitis |
ORPHA:228123 |
| Agel Amyloidosis |
|
Xerostomia, Tongue atrophy |
ORPHA:85448 |
| Pmm2-Cdg |
|
Osteopenia, Retrognathia, Long philtrum, Respiratory distress, Anteverted nares, Mandibular progn... |
ORPHA:79318 |
| Listeriosis |
|
Stiff neck, Respiratory distress, Miscarriage, Septic arthritis, Osteomyelitis |
ORPHA:533 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress |
OMIM:620306 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Duodenal ulcer, Gastritis, Anoperineal fistula, Arthritis, Colitis, Oral ulcer, Osteomalacia, Ost... |
OMIM:619381 |
| Cowden Syndrome |
|
Colorectal polyposis, Bone cyst, High palate, Furrowed tongue, Hamartomatous polyposis, Macroglossia |
ORPHA:201 |
| Meckel Syndrome |
|
Furrowed tongue, Depressed nasal ridge, Micrognathia, Cleft palate, Aplasia/Hypoplasia of the tongue |
ORPHA:564 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
| Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
| Q Fever |
|
Osteomyelitis, Respiratory distress |
ORPHA:781 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
| Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Conjugated hyperbilirubinemia... |
ORPHA:186 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Posteriorly placed anus, Anal atresia, Block vertebrae, Duodenal atresia |
OMIM:306955 |
| Prader-Willi Syndrome |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:176270 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin concentration, Hypercholesterolemia, Neonatal hyperbilirubinemia |
ORPHA:90674 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch... |
ORPHA:90041 |
| Diamond-Blackfan Anemia 1 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Xerostomia, Intestinal perforation, Oral synechia, Rhinitis, Abnormality of... |
ORPHA:95455 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress |
OMIM:274150 |
| Lymphatic Malformation 7 |
|
Respiratory distress |
OMIM:617300 |
| Familial Mediterranean Fever |
|
Intestinal obstruction, Osteoarthritis, Arthritis, Oral leukoplakia |
ORPHA:342 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy |
OMIM:617156 |
| Lysosomal Acid Lipase Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Hyponatremia, Hypercholesterolemia |
ORPHA:275761 |
| Kawasaki Disease |
|
Cheilitis, Recurrent pharyngitis, Glossitis, Arthritis, Strawberry tongue, Lip fissure |
ORPHA:2331 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Episodic respiratory distress, Apnea, Dyspnea, Hyperventilation |
ORPHA:255210 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Retrognathia, Abnormal bone ossification, Thin vermilion border, Respiratory distress, Long philt... |
ORPHA:99646 |
| Hypomagnesemia 3, Renal |
|
Rickets, Enamel hypoplasia, Hypomature enamel, Amelogenesis imperfecta |
OMIM:248250 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hypercholesterolemia, Hyperlipidemia |
OMIM:248370 |
| Revesz Syndrome |
|
Oral leukoplakia |
OMIM:268130 |
| Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Ganglioneuromatosis, Abnormal tongue morphology, Thick vermilion border, J... |
ORPHA:653 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Joint contracture of the hand, Flexion contracture of finger, Congenital finger flexion contractu... |
ORPHA:466768 |
| Hemorrhagic Fever-Renal Syndrome |
|
Epistaxis, Dyspnea, Respiratory distress |
ORPHA:340 |
| Infantile Nephropathic Cystinosis |
|
Rickets |
ORPHA:411629 |
| Colchicine Poisoning |
|
Respiratory distress |
ORPHA:31824 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Xanthelasma, Hyperuricemia, Hyperlipidemia, Hypercholesterolemia |
ORPHA:79259 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
| Immunodeficiency 47 |
|
Hypercholesterolemia, Decreased circulating copper concentration |
OMIM:300972 |
| Holt-Oram Syndrome |
|
Limited elbow extension, Cervical C2/C3 vertebral fusion, Cleft soft palate, Limited pronation/su... |
OMIM:142900 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Prominent nose, Narrow mouth, Respiratory distress |
OMIM:614748 |
| Nocardiosis |
|
Dyspnea, Osteomyelitis, Respiratory distress |
ORPHA:31204 |
| Complete Atrioventricular Septal Defect |
|
Tachypnea, Intercostal retractions |
ORPHA:1329 |
| Primary Fanconi Renotubular Syndrome |
|
Osteomalacia, Hypophosphatemic rickets, Increased susceptibility to fractures |
ORPHA:3337 |
| Kasabach-Merritt Phenomenon |
|
Hypopnea, Respiratory distress |
ORPHA:2330 |
| Gitelman Syndrome |
|
Respiratory distress, Gout |
ORPHA:358 |
| Microsporidiosis |
|
Glossitis, Rhinitis, Osteomyelitis |
ORPHA:2552 |
| Cystinosis, Nephropathic |
|
Rickets, Hypophosphatemic rickets |
OMIM:219800 |
| Scimitar Syndrome |
|
Respiratory distress |
ORPHA:185 |
| Aortic Arch Interruption |
|
Tachypnea, Exertional dyspnea, Respiratory distress |
ORPHA:2299 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Intestinal malrotation, Respiratory distress |
ORPHA:2255 |
| Generalized Arterial Calcification Of Infancy |
|
Hypophosphatemic rickets, Fused cervical vertebrae, Respiratory distress, Abnormal calcification ... |
ORPHA:51608 |
| Glucagonoma |
|
Glossitis, Intestinal obstruction, Steatorrhea, Stomatitis |
ORPHA:97280 |
| Alagille Syndrome 1 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:118450 |
| Tuberous Sclerosis Complex |
|
Respiratory distress |
ORPHA:805 |
| Alkaptonuria |
|
Hemolytic anemia, Methemoglobinemia |
ORPHA:56 |
| Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:606721 |
| Eisenmenger Syndrome |
|
Exertional dyspnea, Respiratory distress |
ORPHA:97214 |
| Carney Complex |
|
Esophageal neoplasm, Neoplasm of the stomach, Paranasal sinus neoplasm, Abnormal hard palate morp... |
ORPHA:1359 |
| Alström Syndrome |
|
Respiratory distress, Abnormality of dental color, Esophageal varix, Hyperostosis frontalis inter... |
ORPHA:64 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circulating creatini... |
OMIM:619534 |
| Leptospirosis |
|
Respiratory distress |
ORPHA:509 |
| Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Exertional dyspnea, Apneic episodes in infancy, Paroxysmal dyspnea, Respiratory distress |
ORPHA:99125 |
