Pierre Robin Syndrome |
|
Neonatal respiratory distress, Micrognathia, Feeding difficulties in infancy, Pierre-Robin sequen... |
OMIM:261800 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Micrognathia, Nasogastric tube feeding in infancy, Dyspnea, Temporomandibul... |
ORPHA:141152 |
Isolated Pierre Robin Syndrome |
|
Neonatal respiratory distress, Micrognathia, Upper airway obstruction, Cleft palate, Glossoptosis |
ORPHA:718 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum |
OMIM:618732 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Dental crowding, Apnea, Micrognathia, Microglossia, Dental malocclusion, Cl... |
OMIM:614669 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Yellow-brown discoloration of the te... |
ORPHA:83450 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
Perching Syndrome |
|
Respiratory distress, Feeding difficulties, High palate, Dysphagia |
OMIM:617055 |
Pierre Robin Sequence With Facial And Digital Anomalies |
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Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia |
OMIM:311895 |
Pitt-Hopkins-Like Syndrome 2 |
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Protruding tongue, Feeding difficulties, Wide mouth, Gastroesophageal reflux, Constipation, Hyper... |
OMIM:614325 |
Cerebrocostomandibular Syndrome |
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Anal stenosis, Neonatal respiratory distress, Cleft soft palate, Micrognathia, Carious teeth, Cle... |
OMIM:117650 |
Hypoglossia With Situs Inversus |
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Respiratory distress, Micrognathia, Feeding difficulties in infancy, Malnutrition, Upper airway o... |
OMIM:612776 |
Lethal Osteosclerotic Bone Dysplasia |
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Respiratory distress, Micrognathia, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respirat... |
ORPHA:1832 |
Cerebrocostomandibular Syndrome |
|
Neonatal respiratory distress, Micrognathia, Cleft palate, Feeding difficulties, Glossoptosis, Tr... |
ORPHA:1393 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
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Sinusitis, Pneumonia, Malabsorption, Protruding tongue, Micrognathia, Diarrhea, Bronchiectasis, M... |
OMIM:242860 |
Cleft Velum |
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Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici... |
ORPHA:99772 |
Congenital Myopathy 10A, Severe Variant |
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Respiratory distress, Cleft palate, Respiratory insufficiency, Restrictive ventilatory defect, Re... |
OMIM:614399 |
Intestinal Dysmotility Syndrome |
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Projectile vomiting, Abdominal distention, Diarrhea, Feeding difficulties, Decreased intestinal t... |
OMIM:620045 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Mandibular prognathia, Protruding tongue, Feeding difficulties, Wide mouth, Widely spaced teeth, ... |
ORPHA:98795 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Submucous cleft hard palate, Feeding difficulties, Wide mouth... |
OMIM:618106 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... |
ORPHA:2025 |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
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Velopharyngeal insufficiency, Nasal regurgitation, Dysphagia |
OMIM:617732 |
9q subtelomeric deletion syndrome |
|
Protruding tongue |
DECIPHER:52 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Tracheobronc... |
OMIM:610253 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Nasogastric tube feedin... |
ORPHA:254864 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Per... |
OMIM:180700 |
Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Angelman Syndrome Due To A Point Mutation |
|
Mandibular prognathia, Protruding tongue, Feeding difficulties, Wide mouth, Widely spaced teeth, ... |
ORPHA:411511 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Catifa Syndrome |
|
Delayed eruption of teeth, Cleft lip, Asthma, Cleft palate, Increased overbite, Long philtrum, To... |
OMIM:618761 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De... |
OMIM:610829 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Retrognathia, ... |
OMIM:612938 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Angelman Syndrome |
|
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Feeding difficulties in infa... |
OMIM:105830 |
Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Micrognathia, Cleft palate, Abnormality of the dentition |
ORPHA:3104 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Neonatal respiratory distress, Protruding tongue, Gingival overgrowth, Wide mouth, Tracheomalacia... |
OMIM:618797 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Stickler Syndrome |
|
Abnormal dental enamel morphology, Cleft upper lip, Open bite, Micrognathia, Hypoplasia of the ma... |
ORPHA:828 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... |
OMIM:200990 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Feeding difficulties in infancy, Respiratory insufficiency, Tongue fasciculations, Respiratory di... |
ORPHA:238329 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Mandibular prognathia, Protruding tongue, Feeding difficulties, Wide mouth, Constipation, Widely ... |
ORPHA:98794 |
Trehalase Deficiency |
|
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2222 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Protruding tongue, Recurrent pneumonia, Gingival overgrowth, Feeding difficulties, Chronic consti... |
OMIM:619179 |
Developmental And Epileptic Encephalopathy 80 |
|
Tented upper lip vermilion, Protruding tongue, Micrognathia, Feeding difficulties, Wide mouth, Hi... |
OMIM:618580 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Short hard palate, Anorexia |
ORPHA:1969 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate |
OMIM:600252 |
Congenital Velopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Abnormal palate morphology |
ORPHA:2291 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion... |
ORPHA:870 |
Adducted Thumbs Syndrome |
|
High, narrow palate, Velopharyngeal insufficiency, Cleft palate, Respiratory insufficiency, High ... |
OMIM:201550 |
Auriculocondylar Syndrome |
|
Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of t... |
ORPHA:137888 |
X-Linked Dystonia-Parkinsonism |
|
Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue |
ORPHA:53351 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Micrognathia, Submucous cleft hard palate, Cleft palate, Retrognathia, Bif... |
ORPHA:2521 |
Developmental And Epileptic Encephalopathy 31B |
|
Protruding tongue, Gingival overgrowth, Feeding difficulties, Constipation, Tube feeding |
OMIM:620352 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Thin upper lip vermilion, Neonatal respiratory distress, Micrognathia, Feed... |
OMIM:615042 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia |
OMIM:183300 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Mandibular prognathia, Protruding tongue, Feeding difficulties, Everted lower lip vermilion, High... |
OMIM:617804 |
Solar Urticaria |
|
Dyspnea, Abnormal tongue morphology, Wheezing, Abnormal lip morphology, Nausea |
ORPHA:97230 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Protruding tongue, Micrognathia, Gingival overgrowth, Cleft p... |
OMIM:259775 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Protruding tongue, Micrognathia, Neonatal asphyxia, Respiratory insufficiency, Feeding difficulti... |
OMIM:608779 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Micrognathia, Feeding difficulties, Wide mouth, Widely spaced teeth |
OMIM:300934 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Feeding diff... |
ORPHA:596 |
Angelman Syndrome |
|
Mandibular prognathia, Protruding tongue, Gastrostomy tube feeding in infancy, Dysphagia, Feeding... |
ORPHA:72 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
Ritscher-Schinzel Syndrome 2 |
|
Intestinal malrotation, Protruding tongue, Wide anterior fontanel, High palate, Short philtrum |
OMIM:300963 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Everted lower lip vermilion, Smooth philtrum, Protruding tongue |
ORPHA:324410 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Icf Syndrome |
|
Macroglossia, Malabsorption, Micrognathia, Protruding tongue |
ORPHA:2268 |
Ring Chromosome 22 Syndrome |
|
Pleural effusion, Thick vermilion border, Protruding tongue |
ORPHA:1446 |
Marshall-Smith Syndrome |
|
Open mouth, Retrognathia, Gingival overgrowth, Protruding tongue |
ORPHA:561 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Macrodontia, Protruding tongue, Diastema, Gingival overgrowth, Wide mouth,... |
OMIM:212066 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Abnormality of the temporomandibular joint, Protruding tongue, Intercostal muscl... |
ORPHA:258 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations, Respiratory failure, Dysphagia |
OMIM:613435 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2026 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Protruding tongue, Diastema, Absent frontal sinuses, Thick lower lip vermi... |
OMIM:301040 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Wide anterior fontanel, Cleft palate, Everte... |
OMIM:619736 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Feeding difficulties, Stridor, Vo... |
ORPHA:137935 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Apnea, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypop... |
OMIM:602483 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Neonatal respiratory distress, Protruding tongue, Micrognathia, High, narrow palate, Wide anterio... |
OMIM:214100 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Juvenile Sialidosis Type 2 |
|
Gingival overgrowth, Dysphagia, Protruding tongue |
ORPHA:93399 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Protruding tongue, Micrognathia, Gingival overgrowth, Chronic constip... |
OMIM:619777 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Macroglossia, Micrognathia |
ORPHA:1423 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Feeding difficulties in infancy, Respiratory insuffi... |
OMIM:605809 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Cleft palate, Glossoptosis, Long philtrum, Malar flattening |
ORPHA:166100 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Feeding difficulties in infancy, Wide mouth, Chronic ... |
OMIM:618825 |
Pyle Disease |
|
Delayed eruption of teeth, Mandibular prognathia, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Decreased ... |
ORPHA:103907 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Intestinal edema, Abdominal pain, Abnormal soft palate morpho... |
ORPHA:100050 |
Catel-Manzke Syndrome |
|
Micrognathia, Cleft palate, Glossoptosis, Malar flattening, Oral synechia |
ORPHA:1388 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Feeding difficulties in infancy, Esophageal atresia, Downturned corners of mou... |
OMIM:618779 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Diaphanospondylodysostosis |
|
Respiratory distress, Cleft palate |
ORPHA:66637 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate, Feeding difficulties |
ORPHA:209908 |
Gm1-Gangliosidosis, Type Ii |
|
Protruding tongue, Gingival overgrowth, Dysphagia, Narrow mouth |
OMIM:230600 |
Birk-Barel Syndrome |
|
Microretrognathia, Tented upper lip vermilion, Feeding difficulties in infancy, High palate, Shor... |
OMIM:612292 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Delayed eruption of teeth, Mandibular prognathia, Abnormal dental enamel morphology, Tooth agenes... |
ORPHA:2325 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
48,Xxyy Syndrome |
|
Delayed eruption of teeth, Broad jaw, Apnea, Abnormal dental enamel morphology, Open bite, Cariou... |
ORPHA:10 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Torus palatinus |
ORPHA:2790 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Severe periodontitis, Protruding tongue, Deep philtrum, Premature loss of ... |
ORPHA:99843 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia, Micrognathia, Aglossia, Cleft palate, Narrow mouth, Mandibu... |
OMIM:202650 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Protruding tongue, Feeding difficulties, Downturned corners of mouth, Macroglossia, Everted lower... |
ORPHA:96147 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Micrognathia, Tooth agenesis, High palate... |
ORPHA:2863 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Feeding difficulties in infancy, Glossoptosis |
OMIM:614876 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Ramon Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morphology, Narrow palate |
ORPHA:3019 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Persistence of primary teeth, Micrognathia, Thick lower lip vermilion, Overjet, ... |
OMIM:618342 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Micrognathia, High, narrow palate, Dyspnea, Feeding difficulties, Wide mout... |
ORPHA:2707 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Apnea, Protruding tongue |
OMIM:619580 |
Joubert Syndrome 1 |
|
Central apnea, Episodic tachypnea, Protruding tongue, Macroglossia, Triangular-shaped open mouth,... |
OMIM:213300 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Athyreosis |
|
Macroglossia, Constipation, Abdominal distention, Feeding difficulties |
ORPHA:95713 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Carious teeth, Retrognathia, Narrow palate, Downturne... |
OMIM:620107 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Poor suck, Micrognathia |
OMIM:300580 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Micrognathia, Protruding tongue, Protuberant abdomen, Long philtrum, Malar flattening |
ORPHA:50945 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Esophageal stricture, Asthma, Hypodontia, Dysphagia, Enamel hypoplasia |
OMIM:616029 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, High palate |
OMIM:620011 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Macroglossia, Constipation |
OMIM:614450 |
Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Micrognathia, Protruding tongue, Feeding difficulties, Constipation, Hi... |
OMIM:617062 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Thick lower lip vermilion, Cleft palate, Feeding difficulties, Wide mo... |
OMIM:614607 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
Qazi-Markouizos Syndrome |
|
High, narrow palate, Abdominal distention, Hypoplasia of teeth, Chronic constipation, Open mouth,... |
ORPHA:3010 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... |
OMIM:619445 |
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome |
|
Absent frontal sinuses, Torus palatinus |
ORPHA:2536 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Feeding difficulties |
OMIM:616341 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Feeding difficulties in infancy, Abdominal distention, Macroglossia, Consti... |
ORPHA:226313 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal colic, Abdominal distention, Diarrhea, Vomiting |
ORPHA:35122 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Feeding difficulties, Wide mouth, Delayed eruption of permanent teeth, T... |
OMIM:618506 |
Bilateral Perisylvian Polymicrogyria |
|
Apnea, Micrognathia, Protruding tongue, Feeding difficulties, Pseudobulbar paralysis, Gastroesoph... |
ORPHA:98889 |
Thyroid Hemiagenesis |
|
Macroglossia, Constipation, Abdominal distention |
ORPHA:95719 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Myasthenic Syndrome, Congenital, 10 |
|
Respiratory insufficiency due to muscle weakness, Tongue atrophy, Reduced vital capacity |
OMIM:254300 |
Achondrogenesis, Type Ia |
|
Stillbirth, Protuberant abdomen, Protruding tongue |
OMIM:200600 |
Congenital Sialidosis Type 2 |
|
Gingival overgrowth, Protruding tongue |
ORPHA:93400 |
Coffin-Siris Syndrome 3 |
|
Cleft palate, Feeding difficulties, Wide mouth, Macroglossia, Delayed eruption of permanent teeth... |
OMIM:614608 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
Auriculocondylar Syndrome 3 |
|
Glossoptosis, Retrognathia, Bifid uvula, Micrognathia |
OMIM:615706 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Micrognathia, Cleft palate, Feeding difficulties, Bifid uvula |
OMIM:606164 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Hypodontia |
ORPHA:63442 |
Volvulus Of Midgut |
|
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... |
OMIM:193250 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Apnea, Thick lower lip vermilion, Feeding difficulties, Widely spaced ... |
OMIM:619797 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Stillbirth, Dysphagia, Neonatal death, Pulmonary arterial hypertension |
OMIM:619751 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, High, narrow palate, Anteriorly placed anus, Oligodontia, Ga... |
OMIM:612289 |
Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Gingival over... |
ORPHA:420561 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Thin upper lip vermilion, Long philtrum |
OMIM:614741 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... |
ORPHA:884 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Dyspnea, Abn... |
ORPHA:2759 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Respiratory insufficiency, High palate, Tongue fasciculations, Poor suck |
ORPHA:1145 |
Whistling Face Syndrome, Recessive Form |
|
Micrognathia, Whistling appearance, Narrow mouth, Trismus, High palate, Long philtrum, Malar flat... |
OMIM:277720 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Dysphagia, Cough, Pleural ... |
ORPHA:50251 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Feeding difficulties, High palate, Neonatal death, Retrognathia |
OMIM:300219 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta |
ORPHA:71267 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Tongue atrophy, Dysphagia |
ORPHA:496689 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... |
ORPHA:1201 |
Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Cough, Dysphagia |
ORPHA:77260 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene... |
OMIM:613849 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Micrognathia, Feeding difficulties in infancy, Furrowed tongue, Everted lower lip vermilion, High... |
ORPHA:1387 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Micrognathia, Feeding difficulties, Thin vermilion border, Short philtrum |
ORPHA:261304 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Tented upper lip vermilion, Apnea, Micrognathia, Feeding d... |
ORPHA:314655 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Submucous cleft hard palate, Abnormal mandible morphology, Glossoptosis, Hyp... |
ORPHA:3201 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Restrictive ventilatory defect, Tongue atrophy, Dysphagia |
OMIM:158900 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Respiratory distress, Rectal prolapse, Hypoplastic facial bones, Feeding diffi... |
OMIM:619793 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Neonatal respiratory distress, Micrognathia, Cleft palate, Congenital laryngeal stridor, Feeding ... |
OMIM:618356 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Diarrhea, Chronic pulmonary obstruction, Pneumothorax, B... |
ORPHA:411703 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Feeding difficul... |
ORPHA:2712 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Upper airway obstruction, Swollen lip |
ORPHA:100057 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Feeding difficulties, Gastroesophageal reflux, Decreased liver function, Po... |
OMIM:616974 |
Pachyonychia Congenita |
|
Respiratory distress, Natal tooth, Angular cheilitis, Feeding difficulties, Advanced eruption of ... |
ORPHA:2309 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Retrognathia, Dentinogenesis imperfecta, Respiratory distress |
ORPHA:166272 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Dyspnea... |
OMIM:211530 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Dental crowding, Macroglossia, High palate, Thick vermilion border, Lo... |
OMIM:616354 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Bifid uvula, Feeding difficulties |
OMIM:619239 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
Moebius Syndrome |
|
Respiratory distress, Micrognathia, Abnormality of the dentition, Feeding difficulties in infancy... |
OMIM:157900 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Anorexia, Crackles, Nonproductive cough, Dyspnea, W... |
ORPHA:1302 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Feeding difficulties in infancy, Respiratory insufficiency due to muscle we... |
ORPHA:254875 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion,... |
ORPHA:329178 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Mandibular prognathia, Respiratory distress, Gastrostomy tube feeding in infancy, Dysphagia, Feed... |
OMIM:620278 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Apnea, Hamartoma of tongue, Micrognathia, Unilateral alveolar clef... |
ORPHA:2751 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Pierre-Robin sequence, Cleft palate, Feeding difficulties, Glossoptosis, Retrognathia |
OMIM:620269 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Micro... |
OMIM:616331 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Micrognathia, High palate, Gastroesophageal reflux, Hiatus hernia, Thi... |
OMIM:619488 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... |
OMIM:617412 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Poor appetite, Abdominal pain, Intra-oral hyperpigmentation, Cheilitis, Dysphagia... |
ORPHA:54028 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Open bite, Abnormality of dental eruption, Dental malocclusion, Downturned... |
ORPHA:1327 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion |
ORPHA:181 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Hypoplastic philtrum, Protruding tongue, Mi... |
OMIM:309580 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti... |
OMIM:613662 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... |
OMIM:300048 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Wide anterior fontanel, Absen... |
OMIM:269300 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Tracheoesophageal fistula, Dysphagia, Upper airway obstruction, St... |
ORPHA:142 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Torus palatinus |
OMIM:144750 |
Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... |
ORPHA:530 |
Warty Dyskeratoma |
|
Abnormality of the alveolar ridges, Oral mucosa nodule, Abnormal hard palate morphology, Focal ep... |
ORPHA:69745 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Carious teeth, Thick vermilion border, Widely spaced teeth, Protuberant abd... |
OMIM:617102 |
Primary Effusion Lymphoma |
|
Dyspnea, Abdominal distention, Pleural effusion, Abdominal pain |
ORPHA:48686 |
Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Cleft soft palate, Smooth philtrum, Micrognathia |
OMIM:614526 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Micrognathia, Pierre-Robin sequence, Feeding difficulties, Glossoptosis... |
OMIM:613604 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Diarrhea, Vomiting, Feeding difficulties |
OMIM:612075 |
Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m... |
ORPHA:952 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, Feeding difficulties ... |
ORPHA:438216 |
Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Dyspnea, Abdominal distention, Peritonitis, Ileus |
ORPHA:168811 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent pneumonia, High palate, Persistence of primary teeth |
OMIM:147060 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Hypodontia |
ORPHA:1816 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Cleft upper lip, Abnormality of the dentition, Hypoplasia of the maxil... |
ORPHA:915 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... |
ORPHA:160148 |
Oromandibular Dystonia |
|
Respiratory distress, Abnormality of the temporomandibular joint, Abnormal mandible morphology, A... |
ORPHA:93958 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth |
ORPHA:3238 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Feeding difficulties, High palate, Inspiratory stridor, Irregular respiration |
OMIM:604377 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Tented upper lip vermilion, Feeding difficulties, Chronic constipation, Thi... |
OMIM:619383 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Movement abnormality of the tongue, Open mouth, Dysphagia |
ORPHA:98805 |
48,Xxxy Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Abnormal dental enamel morphology, Pulmonary em... |
ORPHA:96263 |
Vascular Malformation, Primary Intraosseous |
|
Ectopic tooth eruption, Gingival bleeding |
OMIM:606893 |
Malaria |
|
Nausea and vomiting, Respiratory distress |
ORPHA:673 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, High, narrow palate, Smooth philtrum, Micrognathia |
OMIM:608799 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Malabsorption |
ORPHA:99811 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
Congenital Pancreatic Cyst |
|
Abdominal distention, Vomiting, Anorexia, Abdominal pain |
ORPHA:313906 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Pontocerebellar Hypoplasia, Type 1B |
|
Tongue atrophy, Tongue fasciculations, Respiratory insufficiency, Feeding difficulties |
OMIM:614678 |
Buratti-Harel Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, Recurrent pneumonia, Gastroesophageal ... |
OMIM:619314 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Wide anterior fontanel, Cleft... |
OMIM:607812 |
Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:601492 |
Pycnodysostosis |
|
Delayed eruption of primary teeth, Persistence of primary teeth, Carious teeth, Micrognathia, Abs... |
OMIM:265800 |
Osteopetrosis, Autosomal Dominant 1 |
|
Mandibular pain, Calvarial osteosclerosis, Torus palatinus |
OMIM:607634 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Cleft hard palate, Micrognathia |
ORPHA:166016 |
4H Leukodystrophy |
|
Delayed eruption of teeth, Hypodontia, Dysphagia, Abnormality of the dentition |
ORPHA:289494 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Thin upper lip vermilion, High, narrow palate, Submucous cleft hard palate,... |
OMIM:612863 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Faciocardiomelic Dysplasia, Lethal |
|
Micrognathia, Narrow mouth, Neonatal death, Microglossia, Retrognathia |
OMIM:227270 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Dental malocclusion, High palate, Hypodontia, Bifid uvula |
OMIM:612350 |
Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Synaptic Congenital Myasthenic Syndromes |
|
Mandibular prognathia, Respiratory distress, Hypoventilation, Neonatal respiratory distress, Resp... |
ORPHA:98915 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Micrognathia, Crowded maxillary incisors, Narrow palate, Abnormal palate morphology, Tooth agenes... |
ORPHA:2063 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Broad jaw, Dental crowding, Micrognathia, Cough, Submucous cleft lip, ... |
ORPHA:96170 |
Frank-Ter Haar Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Gingival overgrowth, Wide mouth, Short philtrum... |
ORPHA:137834 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Feeding difficulties |
ORPHA:26792 |
Radio-Renal Syndrome |
|
Respiratory distress, Micrognathia, High, narrow palate, Dyspnea, Downturned corners of mouth, Re... |
ORPHA:3015 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy, Dysphagia |
ORPHA:216873 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate, Micrognathia, Nasogastric tube feeding in infancy, Gastroesophageal reflux, Po... |
ORPHA:93316 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... |
ORPHA:264675 |
49,Xxxxy Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Abnormal dental enamel morphology, Pulmonary em... |
ORPHA:96264 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Persistence of primary teeth, Asthma, Supernumerary tooth, Recurrent pneumonia, Bronchiectasis, H... |
OMIM:619752 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Micrognathia, Feeding difficulties in infancy, Esophageal atresia, Deep phi... |
OMIM:610536 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Mandibular aplasia, Microglossia, Respiratory distress, Narrow mouth |
ORPHA:990 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion |
OMIM:601957 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth, Episodic vomiting |
OMIM:272300 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Vomiting |
OMIM:237310 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Carious teeth, Hypoplasia of the maxilla, Hypoplasia of teeth, Wide mo... |
ORPHA:50814 |
Ovarian Fibroma |
|
Odontogenic keratocysts of the jaw, Abdominal pain, Abdominal distention, Peritonitis, Pleural ef... |
ORPHA:314473 |
Native American Myopathy |
|
Micrognathia, Cleft palate, Feeding difficulties, Downturned corners of mouth, Respiratory insuff... |
ORPHA:168572 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Feeding difficulties, Respiratory insufficiency due to muscle weakness, Mic... |
ORPHA:1143 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Feeding difficulties, Downturned corners of mouth, Everted lower lip vermilion, Widely spaced tee... |
OMIM:617865 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Abnormality of the dentition, Micrognathia, Gingival overgrowth, Long philtrum... |
OMIM:618529 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open mouth |
OMIM:619356 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Chronic diarrhea, Glossitis, Poor appetite |
ORPHA:2221 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Anti-Glomerular Basement Membrane Disease |
|
Cough, Respiratory insufficiency, Persistence of primary teeth |
ORPHA:375 |
Adiposis Dolorosa |
|
Abdominal distention, Constipation |
OMIM:103200 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Micrognathia, Wide anterior fontanel, Pierre... |
OMIM:217980 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Gastroesophageal reflux, Cough, Pulmonary ar... |
ORPHA:2414 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Dental crowding, Narrow palate, Feeding difficulties, Gastroeso... |
ORPHA:313892 |
Hydrolethalus |
|
Micrognathia, Submucous cleft hard palate, Cleft palate, Gingival cleft, Unilateral cleft lip, Re... |
ORPHA:2189 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, High palate |
OMIM:271225 |
Cleidocranial Dysplasia |
|
Delayed eruption of teeth, Mandibular prognathia, Sinusitis, Abnormal dental enamel morphology, A... |
ORPHA:1452 |
Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption |
OMIM:606824 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Dental crowding, Persistence of primary teeth, Hiatus hernia, Recurrent pneumonia, Feeding diffic... |
OMIM:619769 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Submucous cleft hard palate, Trismus |
OMIM:609166 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... |
OMIM:157980 |
Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth |
OMIM:619489 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Intestinal malrotation, Hypoxemia |
ORPHA:2140 |
Meckel Syndrome, Type 8 |
|
Abdominal distention, Cleft palate, Cleft upper lip |
OMIM:613885 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Feeding difficulties, Downturned corners of mouth, Lobulated tongue, Sh... |
OMIM:613443 |
Avian Influenza |
|
Respiratory distress, Pneumonia, Abdominal pain, Productive cough, Nonproductive cough, Diarrhea,... |
ORPHA:454836 |
Congenital Myasthenic Syndrome |
|
Microretrognathia, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due ... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Microretrognathia, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due ... |
ORPHA:98914 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Nausea and vomiting, Abnormal dental enamel morphology, Downturned cor... |
ORPHA:2107 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Ankyloglossia |
OMIM:618021 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia |
ORPHA:240085 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Dysphagia |
OMIM:613561 |
Intestinal Botulism |
|
Nausea and vomiting, Respiratory insufficiency due to muscle weakness, Dyspnea, Diarrhea, Xerosto... |
ORPHA:178481 |
Amish Lethal Microcephaly |
|
Feeding difficulties, Cleft soft palate, Micrognathia |
ORPHA:99742 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, Cleft ... |
ORPHA:2780 |
Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Midline notch of upper alveolar ridge |
OMIM:617127 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Advanced eruption of teeth, High palate, Mandibular prognathia |
OMIM:262190 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Anorexia, Malabsorption, Abdominal pain, Diarrhea, Hypogeusia, Furrowed ton... |
ORPHA:2930 |
Laron Syndrome |
|
Microdontia, Tooth agenesis, Micrognathia, Delayed eruption of teeth |
ORPHA:633 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Dyspnea, Abdominal distention |
OMIM:174050 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate |
OMIM:620183 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Abdominal distention, Apnea |
ORPHA:79097 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Malar flattening, Anal... |
OMIM:190685 |
Nipah Virus Disease |
|
Nausea and vomiting, Respiratory distress, Anorexia, Cough |
ORPHA:99825 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties,... |
ORPHA:927 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala... |
ORPHA:3241 |
Orofaciodigital Syndrome Iv |
|
Hamartoma of tongue, Accessory oral frenulum, Micrognathia, Cleft palate, Lobulated tongue, High ... |
OMIM:258860 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
Diaphanospondylodysostosis |
|
Respiratory distress, Micrognathia, Respiratory insufficiency, Cleft palate, Protuberant abdomen,... |
OMIM:608022 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, High palate |
OMIM:619272 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... |
OMIM:614753 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi... |
ORPHA:1071 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Carious teeth, Feeding difficulties in infancy, Xero... |
ORPHA:1051 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru... |
OMIM:612921 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy |
OMIM:616155 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Narrow mouth... |
ORPHA:1133 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's... |
ORPHA:261494 |
Emanuel Syndrome |
|
Broad jaw, Dental crowding, Intestinal malrotation, Delayed eruption of primary teeth, Micrognath... |
OMIM:609029 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... |
OMIM:300602 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Crackles, Abdominal distention, Dyspnea, Chronic diarrhea, Asthma, Bron... |
OMIM:620233 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Cleft pal... |
OMIM:174300 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Dyspnea, Subm... |
ORPHA:2554 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Micrognathia, Carious teeth, Recurrent pneumonia, Thin vermilion borde... |
OMIM:214150 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal insufficiency, Submucous cleft h... |
OMIM:614701 |
Schilbach-Rott Syndrome |
|
Submucous cleft hard palate, Micrognathia, Bifid uvula, Narrow mouth |
OMIM:164220 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Dentinogenesis imperfecta, Respiratory distress, Long philtrum |
OMIM:184260 |
Char Syndrome |
|
Persistence of primary teeth, No permanent dentition, Thick vermilion border, Everted lower lip v... |
ORPHA:46627 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Micrognathia, Carious teeth, Abnormal respiratory system physiology, Glossoptosis, Laryngotracheo... |
ORPHA:93346 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia |
ORPHA:97285 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Glossoptosis, Upper airway obstruction, Cleft palate, Micrognathia |
ORPHA:440354 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Feeding difficulties in... |
ORPHA:308552 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Natal tooth, Feeding difficulties in infancy, Gingival overgrowth, Narrow p... |
OMIM:123790 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening |
OMIM:241310 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper... |
ORPHA:819 |
Tetrasomy 5P |
|
Respiratory distress, Micrognathia, Wide anterior fontanel, High palate, Long philtrum, Pulmonary... |
ORPHA:3309 |
Esophageal Atresia |
|
Respiratory distress, Barrett esophagus, Intestinal malrotation, Feeding difficulties in infancy,... |
ORPHA:1199 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Cleft palate, Narrow palate, Anteriorly placed anus, Tooth agenesis, Hypopl... |
ORPHA:1555 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Feeding difficulties, Respiratory distress, Dysphagia |
ORPHA:89844 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Intestinal malrotation, Cleft palate, High palate, Tracheomalacia, Malar fl... |
ORPHA:93259 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:612463 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Thin upper lip vermilion, Neonatal respiratory distress, Feeding difficulties in infancy, Chronic... |
ORPHA:3164 |
Cherubism |
|
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... |
OMIM:118400 |
Tularemia |
|
Respiratory distress, Pneumonia, Oral ulcer, Cough, Pleural effusion |
ORPHA:3392 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Abnormality of the dentition, Micrognathia, Feeding difficulties in infancy, Eru... |
ORPHA:476126 |
Pycnodysostosis |
|
Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Abnorm... |
ORPHA:763 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Grayish enamel, Micrognathia, High, narrow palate, Supernumerary tooth... |
ORPHA:2980 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Intestinal pseudo-obstruction, Diarrhea, Thick lower lip vermilion, As... |
OMIM:309900 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal distention... |
ORPHA:92050 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... |
OMIM:270420 |
Joubert Syndrome 18 |
|
Lobulated tongue, Retrognathia, Cleft palate |
OMIM:614815 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Respiratory distress, Pyloric stenosis, Gastrointestinal dysmotility... |
ORPHA:363705 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t... |
ORPHA:192 |
Idiopathic Neonatal Atrial Flutter |
|
Feeding difficulties in infancy, Tachypnea, Respiratory distress |
ORPHA:45452 |
Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Carious teeth, Deep philtrum, ... |
OMIM:190350 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cough, Abdominal pain |
ORPHA:86812 |
Chitayat Syndrome |
|
Respiratory distress, Thick vermilion border, Tracheomalacia |
OMIM:617180 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Dental crowding, Persistence of primary teeth, Micrognathia, Hypoplasia... |
OMIM:170390 |
Mercury Poisoning |
|
Respiratory distress, Anorexia, Dyspnea, Episodic abdominal pain, Respiratory failure, Interstiti... |
ORPHA:330021 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, High... |
OMIM:220110 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematoche... |
OMIM:175500 |
Acquired Methemoglobinemia |
|
Respiratory distress, Abdominal pain, Dyspnea, Hypoxemia, Vomiting |
ORPHA:464453 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Short philtrum, Cleft palate |
OMIM:617337 |
Achondrogenesis, Type Ib |
|
Malar flattening, Stillbirth, Abdominal distention, Respiratory insufficiency |
OMIM:600972 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum |
ORPHA:3214 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress, Delayed eruption of primary teeth, Micrognat... |
OMIM:119600 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress |
ORPHA:91130 |
Apert Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the maxilla, Esophageal atresia, ... |
ORPHA:87 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Feeding difficulties, Hypodontia, Gastrostomy tube feeding in infancy |
ORPHA:544503 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia, Dysphagia |
OMIM:614381 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Pierre-Robin sequence, Cleft palate, Restrictive ventilatory defect, Malar ... |
OMIM:183900 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Cleft lip, Hypoplastic facial bones, Cleft p... |
OMIM:616300 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Double Outlet Right Ventricle |
|
Intestinal malrotation, Submucous cleft hard palate, Tachypnea, Cleft palate, Feeding difficultie... |
ORPHA:3426 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Dysphagia |
ORPHA:240103 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Hypoplasia of the pharynx, Abnormal pa... |
OMIM:154500 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
Arthrogryposis, Distal, Type 3 |
|
Micrognathia, Submucous cleft hard palate, Cleft palate, High palate, Bifid uvula |
OMIM:114300 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... |
OMIM:257850 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... |
ORPHA:2563 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Exaggerated cupid's bow, Dyspnea, Abnormal mandible morphology, Cleft palate, Downturned corners ... |
ORPHA:2215 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Thick vermilion border, Everted lower lip vermilion, High palate, Shor... |
OMIM:615866 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea, Chronic constipation, High palate, Retrognathia, Na... |
ORPHA:79330 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... |
OMIM:277320 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Nausea and vomiting, Respiratory distress, Anorexia, Abdominal pain, Feeding difficulties |
ORPHA:79312 |
W Syndrome |
|
Broad uvula, Submucous cleft hard palate, Agenesis of maxillary central incisor, Upper lip pit |
ORPHA:2804 |
Tetanus |
|
Respiratory distress, Bowel incontinence, Abdominal pain, Trismus, Tachypnea, Dysphagia |
ORPHA:3299 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Delayed eruption of teeth, Oligodontia, Hypodontia, Dysphagia |
ORPHA:447896 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Furrowed tongue |
ORPHA:2928 |
Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,... |
OMIM:252100 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Micrognath... |
OMIM:608670 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Unilateral cleft palate, Submucous cleft hard palate, Unilateral cleft lip, Micrognathia |
OMIM:619122 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Tachypnea, Respiratory insufficiency, Respiratory failure, Vomiting |
OMIM:614299 |
Thyroid Hypoplasia |
|
Macroglossia, Constipation, Abdominal distention |
ORPHA:95720 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Thin upper lip vermilion, Micrognathia, Carious teeth, Nasogastric tube fee... |
ORPHA:177907 |
Trisomy 8Q |
|
Micrognathia, Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum morpho... |
ORPHA:1752 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation |
ORPHA:168829 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Feeding difficulties, Gastr... |
OMIM:613805 |
Orofaciodigital Syndrome Type 10 |
|
Cleft soft palate, Accessory oral frenulum, Micrognathia, Long philtrum, Retrognathia |
ORPHA:2756 |
Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth, Feeding difficulties |
OMIM:617105 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Recurrent pneumonia, Cleft palate, Furrowed tongue, High palate, Shor... |
OMIM:616449 |
Lead Poisoning |
|
Delayed eruption of teeth, Anorexia, Abdominal pain, Abdominal distention, Asthma, Abnormal respi... |
ORPHA:330015 |
Cree Mental Retardation Syndrome |
|
Cleft soft palate, Micrognathia |
OMIM:606851 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Everted upper lip vermilion, Apnea, Micrognathia, Narrow mouth, Hepatic fai... |
OMIM:608013 |
Lowry-Maclean Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, ... |
ORPHA:2409 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Kniest Dysplasia |
|
Respiratory distress, Malar flattening, Tracheomalacia, Cleft palate |
OMIM:156550 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Abdominal distention, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased liver function, L... |
OMIM:608104 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Cleft palate, Gingivitis, Cough |
ORPHA:2314 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Cleft soft palate, Micrognathia, Feeding difficulties, Hypoxemia, Submucous cleft soft palate, Pu... |
ORPHA:2282 |
Hypoglossia-Hypodactyly Syndrome |
|
Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Feeding difficulties in infancy,... |
ORPHA:989 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue atrophy, Tongue fasciculations, Respiratory insufficiency |
OMIM:620285 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Micrognathia, Cleft l... |
OMIM:619148 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy |
ORPHA:103910 |
Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth |
OMIM:112350 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Hypoglossia-Hypodactylia |
|
Micrognathia, Aglossia, Narrow mouth, Microglossia, Retrognathia |
OMIM:103300 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Small intestinal dysmotility, Poor appetite, Abdominal pain, Atrophic muscularis propria, Abdomin... |
ORPHA:298 |
Marbach-Rustad Progeroid Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Poor appetite, Eruption failure, Hypodontia, Nar... |
OMIM:619322 |
Hereditary Folate Malabsorption |
|
Nausea and vomiting, Anorexia, Diarrhea, Cheilitis, Gastroesophageal reflux, Glossitis |
ORPHA:90045 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus... |
OMIM:615582 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Smooth philtrum, Respiratory distress, Abnormality of the dentition, Cleft palate, Feeding diffic... |
OMIM:300968 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Carious teeth, Pyloric stenosis, Feeding difficulties, Eclabion, Meckel diverticulum |
OMIM:616395 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... |
OMIM:610921 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Facial hyperostosis, Delayed eruption of permanent teeth, Broad alveolar r... |
OMIM:218400 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Abdominal pain, Feeding difficulties, Respiratory failure, Dysphagia |
OMIM:620166 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Malabsorption, Anteriorly placed anus, O... |
ORPHA:2315 |
Sotos Syndrome |
|
Mandibular prognathia, High, narrow palate, Narrow jaw, Narrow palate, Feeding difficulties, High... |
OMIM:117550 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Cleft palate, Stillbirth, Protuberant abdomen, Long philtrum |
OMIM:200610 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
Brachydactyly, Type B1 |
|
Wide anterior fontanel, Delayed eruption of permanent teeth |
OMIM:113000 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Feeding difficulties |
OMIM:616733 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Bifid tongue, Micrognathia, Intestinal malrotation, Bilateral cleft lip and palate |
ORPHA:2001 |
Carey-Fineman-Ziter Syndrome 1 |
|
Micrognathia, Trismus, Pierre-Robin sequence, Bowel irritability, Cleft palate, Feeding difficult... |
OMIM:254940 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Intestinal malrotation, Cleft palate, High palate, Tracheomalacia, Anal atr... |
ORPHA:93260 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Gastroesophageal reflux, Cough, Emphysema, Neonatal respir... |
ORPHA:95430 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Tented upper lip vermilion, Dental crowding, Micrognathia, Pleural effusion... |
OMIM:620369 |
Wolman Disease |
|
Nausea and vomiting, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea, Hepatic f... |
ORPHA:75233 |
1Q41Q42 Microdeletion Syndrome |
|
Submucous cleft hard palate, Thick vermilion border, Cleft palate |
ORPHA:250999 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Anal stenosis, Paranasal sinus hypoplasia, Dental crowding, Intestinal malrotation, ... |
OMIM:300373 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Reye syndrome-like episo... |
ORPHA:348 |
Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:2238 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Volvulus, Micrognathia, Dysphagia |
OMIM:617802 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Delayed eruption of primary teeth, Feeding difficulties in infancy, Widely... |
ORPHA:90322 |
Seckel Syndrome 2 |
|
Microdontia, Microglossia, Micrognathia |
OMIM:606744 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Stickler Syndrome, Type I |
|
Micrognathia, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, Malar flattening,... |
OMIM:108300 |
8Q22.1 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Long philtrum, Submucous cleft hard palate, Abnormality of the dentition |
ORPHA:178303 |
Choanal Atresia |
|
Respiratory distress, Upper airway obstruction, Feeding difficulties, Tracheomalacia, Chronic sin... |
ORPHA:137914 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Malar flattening, Cleft palate, Micrognathia |
OMIM:613309 |
Frontometaphyseal Dysplasia 1 |
|
Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary teeth, Absent frontal... |
OMIM:305620 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Thick lower lip vermilion, Submucous cleft hard palate, Wide mouth, Unilat... |
OMIM:619103 |
Solitary Median Maxillary Central Incisor |
|
Prominent median palatal raphe, Solitary median maxillary central incisor, Torus palatinus, Cleft... |
OMIM:147250 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Retrognathia, Short philtrum, Cleft soft palate, Smooth philtrum |
ORPHA:293725 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia |
OMIM:606763 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Bowel incontinence, Wide anterior fontanel, Respiratory fail... |
OMIM:616482 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Micrognathia, Cleft palate, Furrowed tongue, Narrow mouth, Open mouth |
OMIM:615065 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Exaggerated cupid's bow, Apnea, Anorexia, Oral-pharyngeal dysphagia, Abdomi... |
ORPHA:2131 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Pyloric stenosis, Wide anterior fontanel, Submucous cleft hard palate, ... |
ORPHA:457279 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth, Microdonti... |
ORPHA:1307 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Abnormality of the dentition, Thick lower lip vermilion, Gastroesophageal reflux, Tr... |
ORPHA:261652 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Kabuki Syndrome 2 |
|
Natal tooth, Micrognathia, Feeding difficulties in infancy, Lower lip pit, Dental malocclusion, C... |
OMIM:300867 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
Platyspondylic Dysplasia, Torrance Type |
|
Malar flattening, Abdominal distention, Cleft palate |
ORPHA:85166 |
Codas Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1458 |
Eiken Syndrome |
|
Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee... |
OMIM:600002 |
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Chronic constipation, Ankyloglossia |
OMIM:619352 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Eclabion, Thin upper lip vermilion, Mandibular prognathia, Cleft soft palate, High, narrow palate... |
OMIM:619950 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Carious teeth, Dysphagia, Widely spaced teeth, Ga... |
OMIM:619229 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Micrognathia, Carious teeth, Feeding difficulties in infancy, Velophar... |
OMIM:223370 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Apnea, Micrognathia, Feeding difficulties, Gastroesophageal reflux, Lo... |
ORPHA:85201 |
Achondrogenesis Type 1A |
|
Abdominal distention, Micrognathia, Long philtrum |
ORPHA:93299 |
Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Malar flattening, Gingival overgrowth, Micrognathia |
OMIM:614592 |
Orofaciodigital Syndrome Type 6 |
|
Apnea, Episodic tachypnea, Hamartoma of tongue, Micrognathia, Feeding difficulties in infancy, Mi... |
ORPHA:2754 |
Osteoglosphonic Dysplasia |
|
Tooth agenesis, Multiple unerupted teeth, Micrognathia |
ORPHA:2645 |
Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Hiatus hernia, Feeding difficulties, Wide mouth, Thick vermilion border, S... |
ORPHA:2896 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa... |
OMIM:300990 |
Lelis Syndrome |
|
Carious teeth, Mandibular prognathia, Hypodontia, Furrowed tongue |
ORPHA:140936 |
Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis... |
ORPHA:1358 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Long philtrum |
OMIM:617895 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Diarrhea, Vomiting |
OMIM:212140 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Persistence of primary teeth, Carious teeth, Mandibular osteomyelitis, Chr... |
OMIM:259710 |
Trisomy 9P |
|
Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth |
ORPHA:236 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Rectal prolapse, Gingival overgrowth, Narrow palate, Conical incisor, ... |
OMIM:235510 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Micrognathia, Abdominal distention, Alveolar ridge overgrowth, Cleft pa... |
OMIM:235255 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Feeding difficulties, Stridor, Gastroesophageal reflux, Poor suck |
OMIM:615595 |
Elsahy-Waters Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anal stenosis, Mandibular prognathia, Hypopl... |
OMIM:211380 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Oligodontia, Absent... |
OMIM:224300 |
Oculogastrointestinal Muscular Dystrophy |
|
Spontaneous esophageal perforation, Gastroparesis, Intestinal pseudo-obstruction, Malabsorption, ... |
ORPHA:1876 |
Acrocraniofacial Dysostosis |
|
Advanced eruption of teeth, Short philtrum, Cleft palate, Micrognathia |
ORPHA:949 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar... |
OMIM:618727 |
Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... |
OMIM:204690 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Nausea and vomiting, Respiratory distress |
ORPHA:289916 |
Episodic Ataxia Type 1 |
|
Respiratory distress, Nausea |
ORPHA:37612 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Abnormality of the dentition, Malabsorption, Micrognath... |
ORPHA:235 |
Stt3B-Cdg |
|
Respiratory distress, Feeding difficulties |
ORPHA:370924 |
Sialuria |
|
Thin upper lip vermilion, Macroglossia, High palate, Protuberant abdomen, Long philtrum, Smooth p... |
OMIM:269921 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Wide anterior fontanel, Vomiting, Neonatal death, Nausea |
OMIM:231680 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth... |
OMIM:305100 |
Spinocerebellar Ataxia Type 36 |
|
Tongue atrophy, Tongue fasciculations, Bowel incontinence, Dysphagia |
ORPHA:276198 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
Choreoacanthocytosis |
|
Temporomandibular joint crepitus, Dysphagia, Protruding tongue |
ORPHA:2388 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Enamel hypoplasia, Carious teeth, Protuberant abdomen |
OMIM:277440 |
Pachyonychia Congenita 2 |
|
Oral leukoplakia, Natal tooth, Angular cheilitis |
OMIM:167210 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Oligodontia, Hypodontia |
OMIM:601345 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Feeding difficulties |
OMIM:615597 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Respiratory insufficiency, Constipation, Episodic... |
ORPHA:100924 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Esophageal varix, Respiratory insufficiency, Decreased liver function, Hepa... |
ORPHA:367 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Submucous cleft hard palate, High palate, Micrognathia |
OMIM:222765 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Vomiting |
ORPHA:247257 |
Sepsis In Premature Infants |
|
Abnormal mucociliary clearance, Abdominal distention, Diarrhea, Gastrointestinal dysmotility, Dys... |
ORPHA:90051 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te... |
ORPHA:37553 |
8P Inverted Duplication/Deletion Syndrome |
|
Micrognathia, High, narrow palate, Abnormality of dental eruption, Wide mouth, Everted lower lip ... |
ORPHA:96092 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Micrognathia, Respiratory insufficiency, To... |
ORPHA:2484 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Pneumonia, Tachypnea, Feeding difficulties, Anteriorly ... |
ORPHA:26793 |
Rodrigues Blindness |
|
Tooth malposition, Nasal flaring |
OMIM:268320 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Veloph... |
OMIM:209885 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Abnormality of the dentition, Micrognathia, High, narrow palate, Supernumerary tooth... |
ORPHA:2108 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Selective tooth agenesis, Micrognathia, High, narrow palate, Supernumerary tooth, Re... |
OMIM:234100 |
Holocarboxylase Synthetase Deficiency |
|
Nausea and vomiting, Tachypnea, Respiratory distress, Anorexia |
ORPHA:79242 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Respiratory failure, Cleft palate |
ORPHA:158687 |
Spinocerebellar Ataxia 36 |
|
Tongue atrophy, Tongue fasciculations, Dysphagia |
OMIM:614153 |
Opitz Gbbb Syndrome |
|
Natal tooth, Micrognathia, Feeding difficulties in infancy, Cleft lip, Tracheoesophageal fistula,... |
ORPHA:2745 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Microglossia, Narrow mouth |
ORPHA:1972 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Hiatus hernia, Pyloric stenosis, Abnormal zygomatic bone morphology, Dyspne... |
ORPHA:3342 |
Acrodermatitis Enteropathica |
|
Anorexia, Malabsorption, Poor appetite, Chronic diarrhea, Cheilitis, Abnormality of the tongue, F... |
ORPHA:37 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Malar flattening, Enamel h... |
OMIM:618874 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Open bite, Hypoplasia of the maxilla, Open mouth |
ORPHA:950 |
Treacher-Collins Syndrome |
|
Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip... |
ORPHA:861 |
9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Abnormal tongue morphology, Gastrointestinal dysmotility |
ORPHA:531151 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue atrophy, Tongue fasciculations |
OMIM:601596 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Thin upper lip vermilion, Recurrent pneumonia, Feeding difficulties, Short ... |
OMIM:607143 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the tongue, Micrognathia, Feeding difficulties in infancy, Cleft palate, To... |
ORPHA:570 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Respiratory failure requiring assisted ventilation, Feeding difficulti... |
ORPHA:1675 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Respiratory insuffici... |
OMIM:269860 |
Cardiofaciocutaneous Syndrome 1 |
|
Abnormality of the dentition, Open bite, Micrognathia, Deep philtrum, Submucous cleft hard palate... |
OMIM:115150 |
Letterer-Siwe Disease |
|
Stomatitis, Abdominal distention, Dyspnea |
OMIM:246400 |
Nephrotic Syndrome, Type 1 |
|
Pyloric stenosis, Neonatal respiratory distress, Gastroesophageal reflux, Abdominal distention |
OMIM:256300 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Bifid u... |
ORPHA:2752 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Submucous cleft hard... |
ORPHA:2588 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology |
ORPHA:1782 |
Desmosterolosis |
|
Intestinal malrotation, Micrognathia, Submucous cleft hard palate, Cleft palate, Feeding difficul... |
ORPHA:35107 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l... |
ORPHA:369950 |
Rothmund-Thomson Syndrome Type 2 |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Cario... |
ORPHA:221016 |
Myotonic Dystrophy 1 |
|
Feeding difficulties in infancy, Respiratory distress, Dysphagia |
OMIM:160900 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... |
ORPHA:2250 |
Mandibuloacral Dysplasia |
|
Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, High palate |
ORPHA:2457 |
Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Selective tooth agenesis, Abnormali... |
ORPHA:2909 |
Orofaciodigital Syndrome Type 4 |
|
Median cleft lip, Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality... |
ORPHA:2753 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, C... |
OMIM:224690 |
Hereditary Mucoepithelial Dysplasia |
|
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
Campomelic Dysplasia |
|
Respiratory distress, Irregular dentition, Neonatal respiratory distress, Apnea, Micrognathia, Ca... |
OMIM:114290 |
Holzgreve Syndrome |
|
Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate |
ORPHA:2167 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Malabsorption, Chronic diarrhea, Recurrent pneumonia, Glossoptosis |
ORPHA:47 |
Melkersson-Rosenthal Syndrome |
|
Macroglossia, Cheilitis, Furrowed tongue |
ORPHA:2483 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... |
ORPHA:364577 |
Tarp Syndrome |
|
Micrognathia, Cleft palate, Tongue nodules, Glossoptosis, High palate, Hepatic failure, Neonatal ... |
OMIM:311900 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... |
OMIM:155310 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Enamel hypoplasia, Protuberant abdomen |
OMIM:264700 |
Limb-Mammary Syndrome |
|
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Malar flatte... |
ORPHA:69085 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Dental crowding, Apnea, Delayed eruption of primary teeth, Poor appetite, Gastrointestinal dysmot... |
OMIM:617799 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Thin upper lip vermilion, Submucous cleft hard palate |
OMIM:619680 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Micrognathia, Pyloric stenosis, Recurrent pneumonia, Malar flattening, Dent... |
OMIM:613848 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Bowel incontinence, Feeding difficulties in infancy, Respiratory... |
ORPHA:365 |
Hypomandibular Faciocranial Dysostosis |
|
Aplasia/Hypoplasia of the tongue, Cleft palate, Narrow mouth, Maxillozygomatic hypoplasia, Bifid ... |
ORPHA:1790 |
Otopalatodigital Syndrome, Type I |
|
Selective tooth agenesis, Absent frontal sinuses, Cleft palate, Multiple impacted teeth, Narrow m... |
OMIM:311300 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Nonproductive cough, Dyspnea, X... |
ORPHA:85443 |
Familial Visceral Myopathy |
|
Abdominal distention, Aganglionic megacolon, Cleft palate, Micrognathia |
ORPHA:2604 |
Cornelia De Lange Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Pneumonia, Cleft upper lip, Malrotation of c... |
OMIM:122470 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Micrognathia, Cleft lip, Wide anterior... |
OMIM:617925 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Nasogastric tube feeding in infancy, Gastrointestinal dysmotility, Cleft palate, Furrowed tongue,... |
ORPHA:453499 |
Doors Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Short lingual frenulum, Abnormality of the dentit... |
ORPHA:79500 |
Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:615108 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Long philtrum |
ORPHA:50810 |
Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
Short Syndrome |
|
Delayed eruption of teeth, Micrognathia, Dental malocclusion, Downturned corners of mouth, Hypodo... |
OMIM:269880 |
Adnp Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Oral-pharyngeal dysphagia, Thick lower lip vermil... |
ORPHA:404448 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernu... |
OMIM:311200 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Tracheomalacia, Micrognathia, Carious teeth, Respi... |
ORPHA:536467 |
Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Dental crowding, Micrognathia, Long philtrum |
OMIM:145420 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Respiratory distress, Ma... |
ORPHA:537 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Respiratory distress, Hypoplasia of the maxilla... |
OMIM:166250 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Retrognathia, Duodena... |
OMIM:619227 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Unilateral cleft palate, Abnormality of the dentition, Carious teeth, Hypo... |
ORPHA:1299 |
Gapo Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Micrognathia, Everted lower lip vermilion, Long... |
ORPHA:2067 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narrow palate, Gastrointest... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narrow palate, Gastrointest... |
ORPHA:352665 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Malabsorp... |
ORPHA:2136 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft palate, Thick upper lip ... |
OMIM:247200 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia |
ORPHA:238459 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Neonatal death, Natal tooth |
OMIM:609638 |
Zimmermann-Laband Syndrome 1 |
|
Delayed eruption of teeth, Mandibular prognathia, Gingival overgrowth, Gingival fibromatosis, Dow... |
OMIM:135500 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrow... |
ORPHA:769 |
Mgat2-Cdg |
|
Respiratory distress, Dental crowding, Gastroparesis, Feeding difficulties, Gastroesophageal refl... |
ORPHA:79329 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Macroglossia, Recurrent pneumonia, Thick vermilion border |
OMIM:617303 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, ... |
ORPHA:464738 |
Cocaine Intoxication |
|
Respiratory distress, Abdominal pain, Intestinal perforation, Wheezing, Tachypnea, Pneumothorax, ... |
ORPHA:90068 |
Peritoneal Cystic Mesothelioma |
|
Abdominal distention, Peritonitis, Constipation, Abdominal pain |
ORPHA:168816 |
Helsmoortel-Van Der Aa Syndrome |
|
Thin upper lip vermilion, Carious teeth, High, narrow palate, Thick lower lip vermilion, Chronic ... |
OMIM:615873 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Glossitis, Cleft palate, Feeding difficulties |
ORPHA:79284 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Feeding difficulties in infancy, Deep philt... |
ORPHA:534 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Micrognathia, Submucous cleft hard palate, Cleft palate, Gastroesophageal reflu... |
OMIM:301043 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Micrognathia |
ORPHA:73272 |
Celiac Disease, Susceptibility To, 1 |
|
Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Vomiting, Recurrent aphthous stom... |
OMIM:212750 |
Carpenter Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Persistence of primary teeth, Agenesis of permanent teet... |
OMIM:201000 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thin upper lip vermilion, Micrognathia, Feeding difficulties in infancy, Pierre-Robin sequence, C... |
OMIM:611209 |
Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Micrognathia, High, ... |
ORPHA:193 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Micrognathia |
OMIM:616901 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Hypo... |
OMIM:225500 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:617660 |
Orofaciodigital Syndrome Type 1 |
|
Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Hamartoma of tongue... |
ORPHA:2750 |
Velocardiofacial Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, O... |
OMIM:192430 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Malnutrition, Dysphagia, ... |
ORPHA:89842 |
Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:615109 |
Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Wide anterior fontanel, Supernumerary tooth, Delayed eruption of prima... |
OMIM:620099 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Diastema, Hypoplasia of the maxill... |
OMIM:300534 |
Arboleda-Tham Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Mandibular prognathia, Respiratory distress, Neonata... |
OMIM:616268 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Erosion of oral mucosa, Abnormal oral mucosa morphology, Pneumonia, Dyspnea... |
ORPHA:79404 |
Viss Syndrome |
|
Chronic gastritis, Micrognathia, High, narrow palate, High palate, Gastroesophageal reflux, Broad... |
OMIM:619472 |
Lethal Kniest-Like Dysplasia |
|
Wide anterior fontanel, Protuberant abdomen, Cleft palate |
ORPHA:2347 |
Pediatric Systemic Lupus Erythematosus |
|
Abdominal pain, Abdominal distention, Diarrhea, Dyspnea, Oral ulcer, Vomiting, Pleural effusion |
ORPHA:93552 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Erythematous oral mucosa, Chronic diarrhea, Recurrent pneumonia, Furrowed tongue, Mele... |
OMIM:158310 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Micrognathia, High, narrow palate, Cleft palate, Glossoptosis, Abnormality of frontal sinus |
ORPHA:436003 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Asthma, Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrognathia... |
OMIM:619269 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Micrognathia, Wide anterio... |
OMIM:268310 |
3M Syndrome |
|
Delayed eruption of teeth, Everted lower lip vermilion, Abnormal dental enamel morphology, Long p... |
ORPHA:2616 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Stomatitis, Respiratory distress |
OMIM:612852 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Micrognathia, Trismus, Recurrent pneumonia, Feeding difficulties, Tube feeding |
OMIM:616271 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Gastritis, Pneumonia, Malabsorption, Ileus, Secretory diarrhea, Interstitia... |
ORPHA:37042 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth, Protuberant abdomen |
OMIM:151210 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Respiratory distress, Aganglionic megacolon, Micrognathia, Wide anteri... |
ORPHA:798 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia |
ORPHA:2050 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Long philtrum |
ORPHA:263463 |
Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Dental crowding, Delayed eruption of permanent teeth, Thin vermilio... |
OMIM:620370 |
Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Micrognathia, Trismus, Submucous cleft hard palate, Cleft palate, Th... |
ORPHA:2671 |
Apert Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Esophageal atresia, Pyloric stenosis, Dental ma... |
OMIM:101200 |
Myopathy, Myofibrillar, 7 |
|
Tongue atrophy, Bowel incontinence, Dysphagia |
OMIM:617114 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Delayed eruption of primary teeth, Abnormality of the dentition, Diarrhea,... |
ORPHA:90321 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:612462 |
Infantile Krabbe Disease |
|
Respiratory distress, Nasogastric tube feeding in infancy, Feeding difficulties, Respiratory fail... |
ORPHA:206436 |
Neu-Laxova Syndrome 2 |
|
Protuberant abdomen, High palate, Cleft palate, Micrognathia |
OMIM:616038 |
Microvillus Inclusion Disease |
|
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea |
ORPHA:2290 |
Rothmund-Thomson Syndrome, Type 2 |
|
Delayed eruption of teeth, Mandibular prognathia, Micrognathia, Supernumerary tooth, Hypoplasia o... |
OMIM:268400 |
Gapo Syndrome |
|
Micrognathia, High, narrow palate, Wide anterior fontanel, Thick lower lip vermilion, Eruption fa... |
OMIM:230740 |
Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Abdominal pain, Celiac disease, Hematemesis, Esophagea... |
OMIM:301068 |
Bazex-Dupre-Christol Syndrome |
|
Furrowed tongue |
OMIM:301845 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Micrognathia, Abdominal distention, Alveolar ridge overgrowth, High pal... |
ORPHA:1655 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology |
ORPHA:3353 |
Immunodeficiency 49 |
|
Natal tooth, Short philtrum, Micrognathia |
OMIM:617237 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Dyspnea, Enamel hypoplasia, Abdominal symptom |
ORPHA:94089 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin upper lip vermilion, Deep philtrum, Submucous cleft hard palate, Thin lower lip vermilion, F... |
OMIM:619194 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Pneumonia, Abdominal pain, Diarrhea, Peritonitis, Tachypnea, Vom... |
ORPHA:36234 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Thin upper lip vermilion, Dental crowding, Micrognathia, Hypoplasia of the ... |
OMIM:180849 |
Colonic Atresia |
|
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Functional intestinal ... |
ORPHA:199276 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:103580 |
Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Cario... |
ORPHA:221008 |
Chylomicron Retention Disease |
|
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption |
ORPHA:71 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Nonproductive cough, Fulminant hepatitis, Diarrhea, Odynophagia, ... |
ORPHA:319213 |
Robinow Syndrome |
|
Dental crowding, Persistence of primary teeth, Micrognathia, Dental malocclusion, Gingival overgr... |
ORPHA:97360 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain |
ORPHA:83469 |
Walker-Warburg Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:899 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Vomiting |
OMIM:251000 |
Hartnup Disease |
|
Glossitis, Gingivitis, Malabsorption |
ORPHA:2116 |
Imerslund-Gräsbeck Syndrome |
|
Angular cheilitis, Poor appetite, Constipation, Vomiting, Glossitis |
ORPHA:35858 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Feeding difficulties, Stomatitis, Pulmonary arterial hy... |
ORPHA:79282 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Malabsorption, Feeding difficulties in infancy, Abdominal pain, Abdominal d... |
ORPHA:3260 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Carious teeth, Supernumerary tooth, Adenomatous colonic polyposis, Multiple g... |
OMIM:175100 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Cleft palate, Stillbirth, Pulm... |
OMIM:309350 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Pneumonia, Carious teeth, Macroglossia, Restrictive ventilatory defect... |
OMIM:253200 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Abnormality of the dentition, Feeding difficulties in infancy, Trism... |
ORPHA:3206 |
Psoriasis 14, Pustular |
|
Geographic tongue, Furrowed tongue |
OMIM:614204 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enamel hypoplasia, Protuberant abdomen |
ORPHA:289157 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, D... |
ORPHA:210122 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Abnormal dental morphology, Orofacial cleft, Abnormality of the dentition |
ORPHA:568 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Micrognathia, Tracheoesophageal fistula, Orofacial cleft, High ... |
ORPHA:958 |
Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Bifid uvula, Cleft palate, Micrognathia |
ORPHA:1427 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Tracheoesophageal fistula, Feeding difficulties, High palate, Stomatiti... |
OMIM:277380 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Feeding difficulties, Hypopnea, Gastr... |
OMIM:618426 |
Au-Kline Syndrome |
|
Dental malocclusion, Retrognathia, Cleft palate, Feeding difficulties, Downturned corners of mout... |
OMIM:616580 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Cleft soft palate, Pyloric stenosis, Supernumerary tooth, Nasogastric tube feeding in infancy, Fe... |
ORPHA:268261 |
Thyroid Ectopia |
|
Macroglossia, Constipation, Abdominal distention |
ORPHA:95712 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress |
ORPHA:254913 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Conical... |
ORPHA:289 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Apnea, Micrognathia, Deep philtrum, Downturned corners of... |
OMIM:619503 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... |
ORPHA:209905 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Stridor, Macroglossia, Thick vermilion border, Recurrent gastroenteritis, P... |
ORPHA:505248 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Feeding difficulties, Macroglossia, Pleural effusion |
OMIM:261740 |
Lymphatic Malformation 7 |
|
Respiratory distress, Abdominal distention, Pleural effusion, Chylothorax |
OMIM:617300 |
Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Abnormal dental enamel morphology, Abnormal dental morphology, Micrognathi... |
ORPHA:818 |
Orofaciodigital Syndrome Vi |
|
Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Micrognathia, Cleft palate, Incomp... |
OMIM:277170 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, High, narrow palate, Wide mouth, Widely spaced teeth, Short philtrum, Gastroesop... |
OMIM:300967 |
Plague |
|
Respiratory distress, Chapped lip, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Enterocolitis... |
ORPHA:707 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Glossoptosis, Respiratory insufficiency |
ORPHA:2031 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Advanced eruption of teeth |
ORPHA:2348 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Gastrointestinal dysmotility, Asthma, Nasal flaring, Feeding difficulti... |
ORPHA:466943 |
Chand Syndrome |
|
Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... |
ORPHA:1401 |
Necrotizing Enterocolitis |
|
Apnea, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting |
ORPHA:391673 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Thick upper lip vermilion, Medi... |
OMIM:612651 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Micrognathia, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of perm... |
OMIM:616894 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Narrow mouth, High palate, Small, conical teeth, Emphysema |
ORPHA:2962 |
Spondyloepiphyseal Dysplasia Congenita |
|
Micrognathia, Abnormal respiratory system physiology, Cleft palate, Glossoptosis, Laryngotracheom... |
ORPHA:94068 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Orofacial cleft, Feeding difficult... |
ORPHA:77301 |
Frontorhiny |
|
Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Bifid tongue, Cleft palate |
ORPHA:391474 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Epistaxis, Carious teeth, Diarrhea, Oral ulcer, Gingivitis, Enterocolitis, Ulcerative colitis, In... |
ORPHA:79259 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Respiratory insuffici... |
ORPHA:79276 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Apnea, Orofacial cleft, Feeding difficulties, Gastroesophageal reflux, Vomi... |
ORPHA:17 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Alveolar ridge overgrowth, Gingival overgrowth, Widely spaced teeth, A... |
OMIM:301072 |
Shprintzen Omphalocele Syndrome |
|
Neonatal respiratory distress, Hypoplasia of the pharynx, Thin vermilion border, Anal atresia |
OMIM:182210 |
Pallister-Hall Syndrome |
|
Natal tooth, Cleft upper lip, Cleft palate, Anteriorly placed anus, Neonatal death, Microglossia,... |
OMIM:146510 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Exocrine pancreatic insufficiency, Neonatal respiratory distress, Steatorrhea |
OMIM:260400 |
Cowden Syndrome 1 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:158350 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abdominal distention, Protuberant abdomen |
OMIM:277300 |
Cirrhosis, Familial |
|
Abdominal distention, Fulminant hepatitis, Esophageal varix, Pulmonary arterial hypertension |
OMIM:215600 |
Schimke Immuno-Osseous Dysplasia |
|
Abdominal distention, Abnormal primary molar morphology, Abnormal intestine morphology, Hypodonti... |
ORPHA:1830 |
Gaucher Disease, Type Ii |
|
Apnea, Cough, Trismus, Feeding difficulties, Stridor, Gastroesophageal reflux, Protuberant abdome... |
OMIM:230900 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Carious teeth, Abnormal zygomatic bone morphology, Failure of eruption of ... |
ORPHA:2769 |
Japanese Encephalitis |
|
Respiratory distress, Anorexia, Abdominal pain, Diarrhea, Vomiting, Respiratory paralysis, Abnorm... |
ORPHA:79139 |
Methylmalonic Aciduria, Cblb Type |
|
Feeding difficulties in infancy, Vomiting, Respiratory distress |
OMIM:251110 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Nausea and vomiting, Oral mucosal blisters, Abdominal distention, Congenital pyloric atresia, Ena... |
ORPHA:79403 |
Zttk Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Feeding difficulties in infancy, Submuco... |
OMIM:617140 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Cleft soft palate, Feeding difficulties |
OMIM:614557 |
Donohue Syndrome |
|
Wide mouth, Abdominal distention, Thick lower lip vermilion, Gingival overgrowth |
OMIM:246200 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Abnormal dental enamel morphology, High, narrow palate, Submucous cleft ha... |
ORPHA:2658 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Supernumerary tooth... |
OMIM:615948 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the maxilla, Dental malocclusion,... |
OMIM:101800 |
Farber Disease |
|
Respiratory distress, Chronic diarrhea, Respiratory insufficiency, Feeding difficulties, Hepatic ... |
ORPHA:333 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Abdominal distention, Gastroesophageal reflux, Hypoventilation, Feeding difficulties |
OMIM:620275 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Chronic lung disease, P... |
ORPHA:95455 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Natal tooth, Micrognathia, Carious teeth, Downturned co... |
OMIM:620186 |
Castleman Disease |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abdominal distention, Dyspnea, Cough |
ORPHA:160 |
Ovarian Fibrothecoma |
|
Abdominal distention, Peritonitis, Pleural effusion, Abdominal pain |
ORPHA:314478 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Abnormal stomach morphology, Neonatal asphyxia, Dyspnea, Wheezing, Tracheoe... |
ORPHA:141127 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Difficulty in tongue movements, Tongue atrophy, Reduced vital capacity, Respiratory insufficiency |
ORPHA:99956 |
Osteopetrosis With Renal Tubular Acidosis |
|
Persistence of primary teeth, Abnormality of the dentition, Micrognathia, Thick lower lip vermili... |
ORPHA:2785 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Delayed eruption of teeth, Cleft lip, Thick lower lip vermilion, Cleft palate, Wide mouth, Short ... |
OMIM:280000 |
Marden-Walker Syndrome |
|
Micrognathia, Pyloric stenosis, Submucous cleft hard palate, Cleft palate, Feeding difficulties, ... |
ORPHA:2461 |
Cardiofaciocutaneous Syndrome |
|
Feeding difficulties in infancy, Submucous cleft hard palate, Functional abnormality of the gastr... |
ORPHA:1340 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting |
ORPHA:35710 |
Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Apnea, Micrognathia, Carious teeth, Respiratory insufficiency, Feeding difficulties,... |
OMIM:601559 |
Ramon Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Narrow palate |
OMIM:266270 |
Gardner Syndrome |
|
Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo... |
ORPHA:79665 |
Tarp Syndrome |
|
Apnea, Micrognathia, Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Glossoptosis... |
ORPHA:2886 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Abdominal distention |
ORPHA:369 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Narrow philtrum, Thin vermili... |
OMIM:601812 |
Colchicine Poisoning |
|
Respiratory distress, Diarrhea, Cardiorespiratory arrest, Vomiting, Nausea |
ORPHA:31824 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of the dentition, Open bite, Mic... |
ORPHA:1507 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Orofaci... |
ORPHA:464 |
Marshall-Smith Syndrome |
|
Eclabion, Irregular dentition, Microretrognathia, Prominence of the premaxilla, Apnea, Pyloric st... |
OMIM:602535 |
Giant Cell Arteritis |
|
Epistaxis, Anorexia, Abdominal pain, Gastrointestinal infarctions, Cough, Hepatic failure, Glossitis |
ORPHA:397 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Wide mouth |
ORPHA:1231 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Delayed eruption of permanent teeth, Tented upper lip vermilion, Short phi... |
ORPHA:521445 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Feeding difficulties in infancy, Abdominal distention, Stridor, Macroglossia, Constipation |
OMIM:218700 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Abdominal pain, Hematemesis, Dyspnea, Diarrhea, Melen... |
ORPHA:340 |
Ethylene Glycol Poisoning |
|
Gastritis, Abnormal pattern of respiration, Episodic respiratory distress, Tachypnea, Vomiting, N... |
ORPHA:31826 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97280 |
Dysostosis Multiplex, Ain-Naz Type |
|
Abdominal distention |
OMIM:619345 |
Shwachman-Diamond Syndrome |
|
Delayed eruption of teeth, Sinusitis, Pneumonia, Carious teeth, Malnutrition, Oral ulcer, Steator... |
ORPHA:811 |
Achondroplasia |
|
Respiratory distress, Malar flattening, Upper airway obstruction, Feeding difficulties |
OMIM:100800 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo... |
ORPHA:733 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Dental malocclusion, Pneumonia |
ORPHA:1855 |
Codas Syndrome |
|
Delayed eruption of teeth, Gastroesophageal reflux, Rectovaginal fistula, Enamel hypoplasia, Anal... |
OMIM:600373 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Dental crowding, Intestinal malrotation, Pneumonia, Carious teeth, Supernumerary too... |
ORPHA:353281 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Dyspnea, Peritonitis, Vomiting, Cough, Pleural effusion |
ORPHA:1546 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Abdominal distention, Diarrhea, Dyspnea, Episodic abdominal pain, Bronchospasm, Nausea |
ORPHA:100085 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Micrognathia, Pyloric stenosis, Cleft palate, Narrow mouth, Retrognathia, G... |
ORPHA:83617 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Dyspnea, Enamel hypoplasia, Abdominal symptom |
ORPHA:79444 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Pierre-Robin sequence, Hypoplastic frontal sinuses, Cleft palate, Glossoptosis, Oli... |
ORPHA:90652 |
Inflammatory Pseudotumor Of The Liver |
|
Abdominal distention, Vomiting, Nausea, Abdominal pain |
ORPHA:90003 |
Methylmalonic Aciduria, Cbla Type |
|
Feeding difficulties in infancy, Vomiting, Respiratory distress |
OMIM:251100 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Peritonitis, Dy... |
ORPHA:31204 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion, Hepatic failure |
ORPHA:292 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Anorexia, Abdominal pain, Abdominal distention, Recurrent infection of the gastrointestinal tract... |
ORPHA:51890 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Gastroparesis, Hypoplasia of the maxilla, Feeding difficulties in infancy, Gastrointestinal dysmo... |
ORPHA:500150 |
Odontoonychodermal Dysplasia |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Anal at... |
OMIM:613091 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Respiratory distress, Reye syndrome-like episodes, Diarrhea, Abdominal dis... |
OMIM:256810 |
Pachyonychia Congenita 3 |
|
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue |
OMIM:615726 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Median cleft lip, Accessory oral frenulum, Supernumerary tooth, Aplasia of ... |
OMIM:617088 |
Spondylocarpotarsal Synostosis Syndrome |
|
Failure of eruption of permanent teeth, Enamel hypoplasia, Cleft palate, Restrictive ventilatory ... |
OMIM:272460 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death, Abdominal distention, Microcolon |
OMIM:619362 |
Hutchinson-Gilford Progeria Syndrome |
|
Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,... |
ORPHA:740 |
Diamond-Blackfan Anemia |
|
Cleft soft palate, Micrognathia, Cleft lip, High palate, Adenocarcinoma of the colon |
ORPHA:124 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Micrognathia, Submucous cleft hard palate, Feeding difficulties, Bifid uvula, Retrognathia, Neopl... |
ORPHA:3047 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Abnormal dental enamel morphology, Micrognathia, Dyspnea, Feeding difficult... |
ORPHA:2556 |
Tolchin-Le Caignec Syndrome |
|
Micrognathia, Submucous cleft hard palate, High palate, Narrow mouth |
OMIM:618971 |
Meckel Syndrome 14 |
|
Microretrognathia, Micrognathia, Abdominal distention, Pneumothorax, Cardiorespiratory arrest, Pr... |
OMIM:619879 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Smooth philtrum |
OMIM:619321 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Abdominal distention, Rectal atresia, Respiratory failure, Narrow mouth, ... |
OMIM:617666 |
Holoprosencephaly 2 |
|
Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Constipat... |
OMIM:157170 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Gingival overgrowth, Micrognathia |
OMIM:259600 |
Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Feeding difficulties... |
ORPHA:1329 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Submucous cleft har... |
OMIM:300166 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Thin upper lip vermilion, Branchial cyst, Microretrognathia, Respira... |
ORPHA:508488 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Tracheomalacia, Micrognathia, Asthma, Downturned corners of mouth, Glos... |
ORPHA:444077 |
Restrictive Dermopathy 1 |
|
Natal tooth, Micrognathia, Wide anterior fontanel, Submucous cleft hard palate, Temporomandibular... |
OMIM:275210 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Thick lower lip vermilion, Feeding difficult... |
ORPHA:1465 |
Charcot-Marie-Tooth Disease Type 4C |
|
Hypoventilation, Tongue atrophy, Respiratory insufficiency, Tongue fasciculations, Difficulty in ... |
ORPHA:99949 |
Fgfr2-Related Bent Bone Dysplasia |
|
Natal tooth, Gingival overgrowth, Micrognathia |
ORPHA:313855 |
Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Diarrh... |
ORPHA:275761 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Feeding difficulties in infancy, Vomiting, Abdominal distention |
OMIM:613070 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Abdominal distention, Submuco... |
OMIM:235730 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Accessory oral frenulum, Hamartoma of tongue, Supernumerary tooth, Aplasia of ... |
ORPHA:434179 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Intestinal malrotation, Hypoperistalsis, Abdominal distention, Microcolon |
ORPHA:2241 |
Charge Syndrome |
|
Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology, Feeding difficulties... |
ORPHA:138 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Thin upper lip vermilion, Abnormality of the dentition, Gingival overgrowth... |
ORPHA:480880 |
Neuroocular Syndrome |
|
Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spaced teeth, Torus... |
OMIM:619539 |
Craniosynostosis And Dental Anomalies |
|
Delayed eruption of teeth, Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Sup... |
OMIM:614188 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Feeding difficulties in infancy, Submucous cleft hard palate |
OMIM:618891 |
Autosomal Dominant Robinow Syndrome |
|
Median cleft lip and palate, Micrognathia, Open bite, High, narrow palate, Abnormality of the gin... |
ORPHA:3107 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Microdontia, Oral leukoplakia, Furrowed tongue |
OMIM:148210 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Microretrognathia, Carious teeth, Wide anterior fontanel, High palate,... |
OMIM:278250 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Natal tooth, Dental crowding, Intestinal malrotation, Pneumonia, Micrognathia, Carious teeth, Nas... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Natal tooth, Dental crowding, Intestinal malrotation, Pneumonia, Micrognathia, Carious teeth, Nas... |
ORPHA:353277 |
Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormality of dental color, Intestinal obstruction, Neonatal respirat... |
ORPHA:666 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Oral-pharyngeal dysphagia, Impaired oropharyngeal swallow response, Open mo... |
OMIM:615273 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Ileal atresia, Abdominal distention, Peritoni... |
OMIM:619351 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Micrognathia, Dyspnea, Submucous cleft hard palate, Cleft palate, Respiratory failure, Thick verm... |
ORPHA:2636 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Abdominal distention, Hypopnea, Abdominal pain |
ORPHA:2330 |
Gonadoblastoma |
|
Abdominal distention, Abdominal pain |
ORPHA:206484 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:2519 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Gastroesophageal reflux, Feeding difficulties |
OMIM:618188 |
Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Dyspnea, Enamel hypoplasia, Abdominal symptom |
ORPHA:79443 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Micrognathia, Pneumothorax, Respiratory failure, Thin vermilion border, Hig... |
ORPHA:3404 |
Meckel Syndrome, Type 1 |
|
Smooth philtrum, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upper lip, ... |
OMIM:249000 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Respiratory failure, Respiratory insufficiency due to muscle weakness, Resp... |
OMIM:615512 |
Coffin-Siris Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Duodenal ulcer, Intestinal malrotation, Coni... |
OMIM:135900 |
Ovarian Hyperstimulation Syndrome |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Pleural effusion, Nausea |
ORPHA:64739 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Oligodontia, Hypodontia, Conical tooth |
OMIM:308300 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Advanced eruption of teeth, Micrognathia |
ORPHA:280365 |
Listeriosis |
|
Respiratory distress, Pneumonia, Abdominal pain, Diarrhea, Peritonitis, Respiratory failure, Vomi... |
ORPHA:533 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Dyspnea, Episodic respiratory distress, Dysphagia, Hepatic failure, Episodic vomiting, Hyp... |
ORPHA:255210 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention, Thin vermilion border |
OMIM:602557 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Micrognathia, Cleft lip, Furrowed tongue, Feeding difficulties, High palate, Broad alveolar ridge... |
OMIM:616975 |
Hereditary Fructose Intolerance |
|
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... |
ORPHA:469 |
Microsporidiosis |
|
Sinusitis, Pneumonia, Anorexia, Abdominal pain, Peritonitis, Chronic diarrhea, Rhinitis, Vomiting... |
ORPHA:2552 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Abdominal distention, Hypoperistalsis |
OMIM:619365 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Abdominal distention, Vomiting, Congenital pyloric atresia, Oral mucosal blisters |
ORPHA:158684 |
Catel-Manzke Syndrome |
|
Cleft upper lip, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Na... |
OMIM:616145 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Apnea, Premature loss of primary teeth, Chronic rhinitis, Pulmonary ar... |
ORPHA:667 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Oral mucosal blisters, Feeding difficulties, Smooth tongue, Enamel hypoplasia, Gastrostomy tube f... |
ORPHA:79396 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Colitis, Steatorrhea, Exocrine pancreatic insuffi... |
ORPHA:309031 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea |
OMIM:115197 |
Smith-Lemli-Opitz Syndrome |
|
Microretrognathia, Aganglionic megacolon, Dental crowding, Intestinal malrotation, Micrognathia, ... |
OMIM:270400 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Abdominal distention, Abnormal tongue morphology, Diarrhea, Thick vermilio... |
ORPHA:653 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax |
OMIM:620306 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Gingival overgrowth |
ORPHA:508542 |
Q Fever |
|
Respiratory distress, Pneumonia, Anorexia, Cough, Pleural effusion |
ORPHA:781 |
Cornelia De Lange Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Micrognathia, Feeding difficulties in infancy,... |
ORPHA:199 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation |
ORPHA:79241 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Gastrointestinal dysmotility, Widely s... |
ORPHA:2152 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Carious teeth, High palate, Small, conical teeth, Emphysema, Smooth ph... |
ORPHA:2834 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration |
OMIM:618733 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Abdominal distention, Hepatic failure |
OMIM:617156 |
Currarino Syndrome |
|
Anal stenosis, Perianal abscess, Gastrointestinal obstruction, Abdominal distention, Chronic cons... |
OMIM:176450 |
Generalized Pustular Psoriasis |
|
Geographic tongue, Cheilitis |
ORPHA:247353 |
Agel Amyloidosis |
|
Tongue atrophy, Xerostomia |
ORPHA:85448 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Delayed eruption of teeth, Mandibular prognathia, Aganglionic megacolon, Dental crowding, Abnorma... |
ORPHA:261537 |
Wiedemann-Rautenstrauch Syndrome |
|
Delayed eruption of teeth, Natal tooth, Pneumonia, Micrognathia, Hypoplastic facial bones, Dyspha... |
OMIM:264090 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Abdominal distention |
OMIM:618528 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Delayed eruption of teeth, High palate, Widely spaced teeth, Long philtrum, Microdontia, Pulmonar... |
OMIM:143095 |
Specc1L-Related Hypertelorism Syndrome |
|
Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtrum, Advanced erup... |
ORPHA:1519 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Cleft upper lip, Feeding difficulties in infancy, Wide anterior fontanel, Submucous cleft hard pa... |
OMIM:607872 |
Charcot-Marie-Tooth Disease Type 1F |
|
Tongue atrophy |
ORPHA:101085 |
Mirizzi Syndrome |
|
Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Vomiting, Nausea |
ORPHA:521219 |
Floating-Harbor Syndrome |
|
Persistence of primary teeth, Celiac disease, Carious teeth, Hypoplasia of the maxilla, Wide mout... |
ORPHA:2044 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard palate, Feeding ... |
OMIM:619325 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, Apneic episodes in infancy, Bif... |
OMIM:601803 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Delayed eruption of primary teeth |
OMIM:300952 |
Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition |
ORPHA:2036 |
Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Anorexia, Feeding difficulties in infancy, Carious teeth, Craniofacial... |
ORPHA:1328 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Delayed eruption of teeth, Mandibular prognathia, Aganglionic megacolon, Dental crowding, Abnorma... |
ORPHA:261552 |
Pancreatoblastoma |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:677 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Tooth abscess, Malabsorption |
ORPHA:289176 |
Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Intestinal malrotation, Cleft upper lip, Hiatus hernia, Dental maloccl... |
OMIM:305600 |
Coccidioidomycosis |
|
Respiratory distress, Pneumonia, Peritonitis, Pleural empyema, Cough, Exudative pleural effusion |
ORPHA:228123 |
Polyembryoma |
|
Abdominal distention, Abdominal pain |
ORPHA:180229 |
Cockayne Syndrome A |
|
Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Dental malocclusion, Hyp... |
OMIM:216400 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Intestinal malrotation, Feeding difficulties, Intermittent diarrhea, Exocri... |
ORPHA:2255 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Carious teeth, Calvarial osteosclerosis, Persistence of primary teeth |
ORPHA:93325 |
Cockayne Syndrome |
|
Abnormal dental morphology, Delayed eruption of primary teeth, Carious teeth, Feeding difficultie... |
ORPHA:191 |
Kawasaki Disease |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Cheilitis, Glossitis |
ORPHA:2331 |
Wiedemann-Rautenstrauch Syndrome |
|
Natal tooth, Thin upper lip vermilion, Abnormality of the dentition, Feeding difficulties, Downtu... |
ORPHA:3455 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress |
OMIM:274150 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Bloody diarrhea, Rectal abs... |
ORPHA:436252 |
Primary Biliary Cholangitis |
|
Celiac disease, Abdominal distention, Hepatic failure, Gastrointestinal inflammation |
ORPHA:186 |
X-Linked Acrogigantism |
|
Diastema, Abdominal distention |
ORPHA:300373 |
Isolated Arrhinia |
|
Respiratory distress, Hypoplasia of the nasal bone |
ORPHA:1134 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Cleft upper lip, Micrognathia, Esophageal atresia, Abdominal distention, Respiratory insufficienc... |
ORPHA:93271 |
Fanconi-Bickel Syndrome |
|
Abdominal distention, Poor appetite, Malabsorption |
OMIM:227810 |
Restrictive Dermopathy |
|
Natal tooth, Micrognathia, Submucous cleft hard palate, Temporomandibular joint ankylosis, Narrow... |
ORPHA:1662 |
Peripheral Primitive Neuroectodermal Tumor |
|
Nausea and vomiting, Abdominal distention, Anorexia, Episodic abdominal pain |
ORPHA:370348 |
Distal Deletion 15Q |
|
Thin upper lip vermilion, Abnormality of the dentition, Micrognathia, Cleft palate, Short philtru... |
ORPHA:1596 |
Cockayne Syndrome B |
|
Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Dental malocclusion, Hyp... |
OMIM:133540 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Respiratory acidosis, Narrow mouth |
OMIM:614748 |
Carney Complex |
|
Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Abnormal hard palate morpho... |
ORPHA:1359 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Abdominal distention |
OMIM:619423 |
Gitelman Syndrome |
|
Nausea and vomiting, Respiratory distress, Abdominal pain, Diarrhea, Constipation |
ORPHA:358 |
Scimitar Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough |
ORPHA:185 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention, Upper airway obstruction |
ORPHA:93352 |
Leptospirosis |
|
Nausea and vomiting, Respiratory distress, Anorexia, Abdominal pain, Diarrhea, Cough, Pleural eff... |
ORPHA:509 |
Gallbladder Neuroendocrine Tumor |
|
Abdominal distention, Nausea, Anorexia, Episodic abdominal pain |
ORPHA:100086 |
Yunis-Varon Syndrome |
|
Premature loss of primary teeth, Micrognathia, Abnormality of dental structure, High, narrow pala... |
ORPHA:3472 |
Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Carious teeth, Hypoplasia of the maxilla, Eruption failure, Pleural eff... |
OMIM:182250 |
Primrose Syndrome |
|
Hypoplasia of the maxilla, Thick lower lip vermilion, Downturned corners of mouth, High palate, T... |
OMIM:259050 |
Pallister-Hall Syndrome |
|
Microretrognathia, Natal tooth, Accessory oral frenulum, Cleft lip, Cleft palate, Respiratory ins... |
ORPHA:672 |
Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Respiratory distress, Anal atresia, Duodenal atresia |
OMIM:306955 |
Wilson Disease |
|
Acute hepatic failure, Abdominal distention, Esophageal varix, Vomiting, Dysphagia, Hepatic failure |
OMIM:277900 |
Meckel Syndrome |
|
Micrognathia, Aplasia/Hypoplasia of the tongue, Cleft palate, Furrowed tongue |
ORPHA:564 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Micrognathia, Malrotation of small bowel, Feeding diffi... |
OMIM:606170 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Secretory diarrhea |
OMIM:214700 |
Aortic Arch Interruption |
|
Feeding difficulties in infancy, Tachypnea, Respiratory distress, Exertional dyspnea |
ORPHA:2299 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Respiratory insufficiency due to muscle weakness, Tongue atrophy |
ORPHA:466768 |
Eisenmenger Syndrome |
|
Respiratory distress, Increased pulmonary vascular resistance, Abdominal distention, Wheezing, Hy... |
ORPHA:97214 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
Fanconi-Bickel Syndrome |
|
Abdominal distention, Hepatic failure |
ORPHA:2088 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Recurrent pneumonia, Hypoplasia of the nasal bon... |
ORPHA:93357 |
Cowden Syndrome |
|
Furrowed tongue, Hamartomatous polyposis, Macroglossia, Colorectal polyposis, High palate |
ORPHA:201 |
Fraser Syndrome |
|
Anal stenosis, Dental crowding, Cleft upper lip, Dental malocclusion, Orofacial cleft, Ectopic an... |
ORPHA:2052 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormality of mouth shape, Abdominal distention |
ORPHA:3003 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Pneumonia, Micrognathia, Abdominal distention, Diarrhea, Peritonitis, Dependen... |
OMIM:619991 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Nasogastric tube feeding in infancy, Recurrent pneumonia, Feeding difficult... |
ORPHA:99646 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Feeding difficulties in infancy, Abdominal distention |
ORPHA:309256 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Abdominal distention, Anal atresia |
OMIM:271520 |
Metachromatic Leukodystrophy, Adult Form |
|
Abdominal distention, Bowel incontinence |
ORPHA:309271 |
Hereditary Spherocytosis |
|
Abdominal distention, Abdominal pain |
ORPHA:822 |
Pmm2-Cdg |
|
Mandibular prognathia, Thin upper lip vermilion, Respiratory distress, Feeding difficulties, Wide... |
ORPHA:79318 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abdominal distention |
ORPHA:309263 |
Sotos Syndrome |
|
Aganglionic megacolon, Abnormality of the dentition, No permanent dentition, Feeding difficulties... |
ORPHA:821 |
Leprechaunism |
|
Abdominal distention, Rectal prolapse, Thick vermilion border, Megarectum |
ORPHA:508 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory failure |
ORPHA:805 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... |
ORPHA:99125 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Pulmonary arterial hypertension, Vomiting, Feeding difficulties |
ORPHA:51608 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Abdominal distention, Asthma, Esophageal varix, Gastroesophageal reflux, Everted lower lip vermil... |
OMIM:619534 |
Alström Syndrome |
|
Respiratory distress, Abnormality of dental color, Chronic pulmonary obstruction, Esophageal vari... |
ORPHA:64 |
Atresia Of Urethra |
|
Abdominal distention |
ORPHA:105 |