Pierre Robin Syndrome |
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Micrognathia, Feeding difficulties in infancy, Pierre-Robin sequence, Cleft palate, Glossoptosis |
OMIM:261800 |
Pierre Robin Sequence With Facial And Digital Anomalies |
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Frontal bossing, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxat... |
OMIM:311895 |
Corneal Dystrophy, Congenital Stromal |
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Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
Corneal Endothelial Dystrophy |
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Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Keratoconus 9 |
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Keratoconus, Decreased corneal thickness |
OMIM:617928 |
Keratoconus 1 |
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Keratoconus, Astigmatism |
OMIM:148300 |
Megalocornea |
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Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Hartsfield Syndrome |
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Median cleft lip, Craniosynostosis, Cleft upper lip, Microcephaly, Cleft palate, Agenesis of corp... |
OMIM:615465 |
Keratoconus 6 |
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Keratoconus |
OMIM:614623 |
Keratoconus 5 |
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Keratoconus |
OMIM:614622 |
Keratoconus 8 |
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Keratoconus |
OMIM:614628 |
Keratoconus 7 |
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Keratoconus |
OMIM:614629 |
Isolated Pierre Robin Syndrome |
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Glossoptosis, Cleft palate, Micrognathia |
ORPHA:718 |
Frontofacionasal Dysplasia |
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Cleft upper lip, Brachycephaly, Orofacial cleft, Midface retrusion, Malar flattening, Bifid uvula... |
OMIM:229400 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
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Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of the maxilla, Cleft palate, Aplasia/Hy... |
ORPHA:306542 |
Isolated Exencephaly |
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Abnormal facial skeleton morphology, Abnormal calvaria morphology, Aplasia/Hypoplasia of the cere... |
ORPHA:563612 |
Cornea Plana 2, Autosomal Recessive |
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Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Isolated Congenital Hypoglossia/Aglossia |
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Micrognathia, Nasogastric tube feeding in infancy, Temporomandibular joint ankylosis, Cleft palat... |
ORPHA:141152 |
Macular Corneal Dystrophy |
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Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
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Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Auriculocondylar Syndrome 2A |
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Dental crowding, Micrognathia, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyl... |
OMIM:614669 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
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Mandibular prognathia, Camptodactyly of finger, Micrognathia, Microcephaly, Submucous cleft hard ... |
ORPHA:2521 |
Brittle Cornea Syndrome 2 |
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Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
Adducted Thumbs Syndrome |
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Cerebral dysmyelination, Microcephaly, Craniosynostosis, High, narrow palate, Velopharyngeal insu... |
OMIM:201550 |
Coffin-Siris Syndrome 11 |
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Frontal bossing, Prominent metopic ridge, Cleft soft palate, Feeding difficulties in infancy, Eso... |
OMIM:618779 |
Cleft Velum |
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Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici... |
ORPHA:99772 |
Craniosynostosis 2 |
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Bicoronal synostosis, Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Trigono... |
OMIM:604757 |
Kleine-Levin Syndrome |
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Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Hypersexuality, Sweet cravin... |
ORPHA:33543 |
Robin Sequence-Oligodactyly Syndrome |
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Glossoptosis, Micrognathia, Cleft palate, Abnormality of the dentition |
ORPHA:3104 |
Lethal Osteosclerotic Bone Dysplasia |
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Micrognathia, Microcephaly, Large fontanelles, Gingival fibromatosis, Gingival overgrowth, Mandib... |
ORPHA:1832 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
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Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ... |
ORPHA:2972 |
Orofaciodigital Syndrome Type 5 |
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Frontal bossing, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral... |
ORPHA:2919 |
Orofacial Cleft 13 |
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Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
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Large posterior fontanelle, Death in infancy, Flat occiput, Wide anterior fontanel, Feeding diffi... |
OMIM:614872 |
Lissencephaly, X-Linked, 2 |
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Thin upper lip vermilion, Micrognathia, Feeding difficulties in infancy, Wide anterior fontanel, ... |
OMIM:300215 |
Leber Congenital Amaurosis 7 |
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Keratoconus, Cataract |
OMIM:613829 |
Rhizomelic Syndrome |
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Wide anterior fontanel, Microcephaly, Hip dislocation, Micrognathia |
OMIM:268250 |
Cleft Lip/Palate |
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Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
Rhizomelic Syndrome, Urbach Type |
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Abnormality of the knee, Micrognathia, Microcephaly, Wide anterior fontanel, Abnormality of the e... |
ORPHA:3098 |
Intestinal Dysmotility Syndrome |
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Projectile vomiting, Abdominal distention, Diarrhea, Feeding difficulties, Decreased intestinal t... |
OMIM:620045 |
Melkersson-Rosenthal Syndrome |
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Furrowed tongue |
OMIM:155900 |
Catel-Manzke Syndrome |
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Camptodactyly of finger, Micrognathia, Cleft palate, Glossoptosis, Malar flattening, Oral synechia |
ORPHA:1388 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
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Micrognathia, Feeding difficulties in infancy, Microcephaly, Brachycephaly, Furrowed tongue, Ever... |
ORPHA:1387 |
Chromosome 22Q11.2 Duplication Syndrome |
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Velopharyngeal insufficiency, Microcephaly, High palate, Micrognathia |
OMIM:608363 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
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Micrognathia, Osteoarthritis, Cleft palate, Glossoptosis, Long philtrum, Malar flattening |
ORPHA:166100 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
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Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Edict Syndrome |
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Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
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Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carpal bones, Cleft palate, Fe... |
OMIM:620269 |
Hereditary Central Diabetes Insipidus |
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Irritability, Polydipsia |
ORPHA:30925 |
Chromosome 16Q22 Deletion Syndrome |
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Frontal bossing, Prominent metopic ridge, Microcephaly, Micrognathia, Wide anterior fontanel, Hig... |
OMIM:614541 |
Leber Congenital Amaurosis 6 |
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Keratoconus, Cataract |
OMIM:613826 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
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Joint dislocation, Camptodactyly of finger, Microcephaly, High, narrow palate, Submucous cleft ha... |
ORPHA:3201 |
Parietal Foramina 1 |
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Cleft upper lip, Parietal foramina, Cleft palate, Macrocephaly, Wormian bones |
OMIM:168500 |
Craniometadiaphyseal Dysplasia |
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Mandibular prognathia, Natal tooth, Wormian bones, Dental crowding, Megalencephaly, Carious teeth... |
OMIM:269300 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
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Feeding difficulties in infancy, Glossoptosis, Death in infancy |
OMIM:614876 |
Teebi Hypertelorism Syndrome 2 |
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Delayed eruption of teeth, Thin upper lip vermilion, Wide anterior fontanel, Cleft palate, Everte... |
OMIM:619736 |
Whistling Face Syndrome, Recessive Form |
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Micrognathia, Whistling appearance, Narrow mouth, Trismus, Elbow flexion contracture, Knee flexio... |
OMIM:277720 |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
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Velopharyngeal insufficiency, Nasal regurgitation, Dysphagia |
OMIM:617732 |
Bartsocas-Papas Syndrome 2 |
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Accessory oral frenulum, Micrognathia, Wide anterior fontanel, Antecubital pterygium, Bilateral c... |
OMIM:619339 |
Orofaciodigital Syndrome Xix |
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Frontal bossing, Cleft soft palate, Accessory oral frenulum, Dolichocephaly, Carious teeth, Retro... |
OMIM:620107 |
Trehalase Deficiency |
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Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
Distal 17P13.1 Microdeletion Syndrome |
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Flat occiput, Unilateral polymicrogyria, Limited elbow movement, Microcephaly, Hypoplasia of the ... |
ORPHA:319171 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
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Delayed eruption of teeth, Frontal bossing, Cerebral calcification, Flat occiput, Micrognathia, H... |
ORPHA:2780 |
Larsen-Like Syndrome |
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Joint dislocation, Frontal bossing, Wide anterior fontanel, Dental malocclusion, Brachycephaly, C... |
OMIM:608545 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
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Macroglossia, Wide anterior fontanel, Feeding difficulties |
OMIM:275100 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
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Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract, Eye poking |
OMIM:204100 |
Amish Lethal Microcephaly |
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Death in infancy, Cerebellar vermis hypoplasia, Cleft soft palate, Micrognathia, Microcephaly, Fe... |
ORPHA:99742 |
Isolated Childhood Apraxia Of Speech |
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Caudate atrophy, High, narrow palate, Submucous cleft hard palate, Feeding difficulties, Abnormal... |
ORPHA:209908 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness |
OMIM:229200 |
Renal Glucosuria |
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Polydipsia, Polyphagia |
OMIM:233100 |
Auriculocondylar Syndrome 1 |
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Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... |
OMIM:602483 |
Heart And Brain Malformation Syndrome |
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Prominent metopic ridge, Cerebellar vermis hypoplasia, Camptodactyly of finger, Microcephaly, Hig... |
OMIM:616920 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
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Frontal bossing, Micrognathia, Wide anterior fontanel, Abnormality of the elbow, Brachycephaly, C... |
ORPHA:163649 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Gomez-Lopez-Hernandez Syndrome |
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Turricephaly, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Craniosynostosis, Wide... |
OMIM:601853 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Obtuse angle of mandible, Micrognathia, Wide anterior fontanel, High palate, Thin calvarium, Macr... |
ORPHA:85184 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
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Knee flexion contracture, Tongue atrophy, Cerebral atrophy, Dysphagia |
ORPHA:496689 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
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Delayed eruption of teeth, Relative macrocephaly, Congenital hip dislocation, Macroglossia, Const... |
OMIM:614450 |
Robinow Syndrome, Autosomal Dominant 2 |
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Thickened calvaria, Thin upper lip vermilion, Frontal bossing, Dental crowding, Cleft soft palate... |
OMIM:616331 |
Athyreosis |
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Abdominal distention, Large fontanelles, Feeding difficulties, Macroglossia, Constipation |
ORPHA:95713 |
Coffin-Siris Syndrome 6 |
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Frontal bossing, Micrognathia, High, narrow palate, Deep philtrum, Cleft palate, Plagiocephaly, S... |
OMIM:617808 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
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Microcephaly, Micrognathia, Cleft palate, Feeding difficulties, Glossoptosis, Small anterior font... |
OMIM:618356 |
Auriculocondylar Syndrome |
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Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... |
ORPHA:137888 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
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Frontal bossing, Micrognathia, Wide anterior fontanel, Protuberant abdomen, Macrocephaly |
OMIM:618272 |
Dysostosis, Stanescu Type |
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Persistent open anterior fontanelle, Cerebral calcification, Abnormal dental enamel morphology, A... |
ORPHA:1798 |
Birk-Barel Syndrome |
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Microretrognathia, Tented upper lip vermilion, Feeding difficulties in infancy, High palate, Shor... |
OMIM:612292 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
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Large posterior fontanelle, Frontal bossing, Abnormal dental morphology, Abnormal dental enamel m... |
ORPHA:85199 |
Auriculocondylar Syndrome 3 |
|
Glossoptosis, Retrognathia, Bifid uvula, Micrognathia |
OMIM:615706 |
Cleft Palate, Deafness, And Oligodontia |
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No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Clark-Baraitser syndrome |
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Exaggerated median tongue furrow, Frontal bossing, Genu recurvatum, Thick lower lip vermilion, Ge... |
OMIM:300602 |
Central Diabetes Insipidus |
|
Polydipsia, Anorexia, Depression |
ORPHA:178029 |
Leber Congenital Amaurosis 8 |
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Keratoconus, Cataract, Eye poking |
OMIM:613835 |
Volvulus Of Midgut |
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Frontal bossing, Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, C... |
OMIM:193250 |
Thyroid Hemiagenesis |
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Large fontanelles, Macroglossia, Constipation, Abdominal distention |
ORPHA:95719 |
Hemifacial Atrophy, Progressive |
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Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Congenital hip dislocation, Dolichocephaly, Pyloric st... |
ORPHA:457279 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Eye poking |
OMIM:204000 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Brachycephaly, Glossoptosis,... |
ORPHA:1452 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Median cleft lip, Microcephaly, Micrognathia, Hip dislocation, Cleft palate, Ma... |
OMIM:241800 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia |
OMIM:222100 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Flat occiput, Microcephaly, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip ver... |
OMIM:617412 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening, Coronal cranios... |
OMIM:241310 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Micrognathia, Cleft hard palate, Knee flexion contracture, Genu valgum, Fixed elbow flexion, Disl... |
ORPHA:166016 |
Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Synovitis, Popl... |
OMIM:601492 |
Qazi-Markouizos Syndrome |
|
High, narrow palate, Abdominal distention, Hypoplasia of teeth, Chronic constipation, Delayed oss... |
ORPHA:3010 |
Hypoglossia With Situs Inversus |
|
Micrognathia, Feeding difficulties in infancy, Malnutrition, High palate, Hypodontia, Narrow mout... |
OMIM:612776 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Frontal bossing, Midface retrusion, Congenital hip dislocation, Microcephaly, Carious teeth, Narr... |
OMIM:219200 |
Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Elbow dislocation... |
OMIM:613805 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Relative macrocephaly, Frontal bossing, Cleft soft palate, Abnormality of the dentition, Microgna... |
OMIM:618529 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To... |
ORPHA:2863 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... |
ORPHA:103907 |
Huntington Disease |
|
Bradyphrenia, Oral-pharyngeal dysphagia, Aggressive behavior, Depression, Irritability, Addictive... |
ORPHA:399 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Frontal bossing, Micrognathia, Pierre-Robin sequence, Feeding difficult... |
OMIM:613604 |
Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia, Agenesis of corpus callosum, Simplified gyral pattern |
OMIM:616540 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum |
OMIM:618732 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the knee, Cleft soft palate, Micrognathia, Nasogastric tube feeding in infancy, Ge... |
ORPHA:93316 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Wide anterior fontanel, Macrocephaly, Death in infancy, Feeding difficulties |
OMIM:618240 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Microcephaly, Submucous cleft hard palate, Bifid uvula, Feeding difficulties |
OMIM:619239 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Treacher Collins Syndrome 3 |
|
Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate, Micrognathia |
OMIM:248390 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Microcephaly, Submucous cleft hard palate, Feeding difficulti... |
OMIM:618106 |
Pontocerebellar Hypoplasia, Type 1B |
|
Tongue atrophy, Hip dislocation, Cerebral atrophy, Feeding difficulties, Tongue fasciculations, P... |
OMIM:614678 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Midface retrusion, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Brachyce... |
ORPHA:1790 |
Leber Congenital Amaurosis 4 |
|
Keratoconus |
OMIM:604393 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
Joubert Syndrome 18 |
|
Trident pelvis, Agenesis of cerebellar vermis, Cleft palate, Lobulated tongue, Retrognathia, Agen... |
OMIM:614815 |
Six2-Related Frontonasal Dysplasia |
|
Frontal bossing, Absent/hypoplastic paranasal sinuses, Wide anterior fontanel, Premature posterio... |
ORPHA:488437 |
8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Microcephaly, Hypoplasia of the maxilla, Abnormality o... |
ORPHA:178303 |
Antley-Bixler Syndrome |
|
Frontal bossing, Turricephaly, Camptodactyly of finger, Craniosynostosis, Narrow mouth, Brachycep... |
ORPHA:83 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Lissencephaly,... |
OMIM:612938 |
Smith-Kingsmore Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Reduced cerebral white matter volume, Megalencephaly, ... |
OMIM:616638 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Vertebral fusion, Frontal bossing, Dental crowding, Narrow pala... |
ORPHA:313892 |
Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
Faciocardiomelic Dysplasia, Lethal |
|
Micrognathia, Narrow mouth, Neonatal death, Microglossia, Retrognathia |
OMIM:227270 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Frontal bossing, Median cleft lip, Aganglionic megacolon, Hamartoma of ... |
OMIM:174300 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Midface retrusion, Frontal bossing, Delayed ... |
OMIM:607812 |
Angelman Syndrome Due To A Point Mutation |
|
Mandibular prognathia, Flat occiput, Protruding tongue, Cessation of head growth, Feeding difficu... |
ORPHA:411511 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Wide anterior fontanel, Delayed eruption of permanent teeth, Joint contracture ... |
OMIM:113000 |
Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Porencephalic... |
OMIM:252100 |
Marshall Syndrome |
|
Thickened calvaria, Frontal bossing, Cerebral calcification, Abnormality of the dentition, Microg... |
ORPHA:560 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Flat occiput, Microcephaly, Abnormal zygomatic bone morphology, Large font... |
ORPHA:2511 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Feeding difficul... |
ORPHA:2712 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
Craniosynostosis 6 |
|
Bicoronal synostosis, Turricephaly, Delayed cranial suture closure, Craniosynostosis, Microcephal... |
OMIM:616602 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Midface retrusion, Micrognathia, High palate, Narrow mouth, Wormian bo... |
OMIM:613849 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Tarsal synostosis, Abnormality of the wrist, Hypoplasia of the maxilla, Cleft ... |
ORPHA:1307 |
Opitz Gbbb Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Cerebellar vermis hypoplasia, Cleft upper lip, Rectour... |
OMIM:300000 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Mandibular prognathia, Protruding tongue, Cessation of head growth, Feeding difficulties, Wide mo... |
ORPHA:98795 |
Acrocallosal Syndrome |
|
Wide anterior fontanel, Aplasia/Hypoplasia of the corpus callosum, Prominent occiput, Macrocephal... |
ORPHA:36 |
Marden-Walker Syndrome |
|
Micrognathia, Microcephaly, High, narrow palate, Pyloric stenosis, Wide anterior fontanel, Cleft ... |
OMIM:248700 |
Hydrolethalus |
|
Absent septum pellucidum, Micrognathia, Submucous cleft hard palate, Anencephaly, Cleft palate, G... |
ORPHA:2189 |
Seckel Syndrome 2 |
|
Microcephaly, Micrognathia, Cerebellar hypoplasia, Microdontia, Microglossia |
OMIM:606744 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti... |
OMIM:613662 |
Acrofrontofacionasal Dysostosis 2 |
|
Wide anterior fontanel, High palate, Brachycephaly, Microcephaly |
OMIM:239710 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Astigmatism, Polyphagia, Cataract |
OMIM:615986 |
Orofaciodigital Syndrome Iv |
|
Hamartoma of tongue, Accessory oral frenulum, Micrognathia, Porencephalic cyst, Cleft palate, Cer... |
OMIM:258860 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Intestinal malrotation, Microcephaly, Velopharyngeal insufficiency, Sub... |
OMIM:614701 |
Congenital Disorder Of Glycosylation, Type If |
|
Death in infancy, Microcephaly, Wide anterior fontanel, Cerebral atrophy, Feeding difficulties, T... |
OMIM:609180 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Cleft soft palate, Smooth philtrum, Micrognathia |
OMIM:614526 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Frontal bossing, Wide cranial sutures, Midface retrusion, Turricephaly, High p... |
OMIM:616294 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
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Thin upper lip vermilion, Feeding difficulties, Downturned corners of mouth, Lobulated tongue, Ab... |
OMIM:613443 |
Lipoid Proteinosis |
|
Cerebral calcification, Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower ... |
ORPHA:530 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Agenesis of corp... |
OMIM:200990 |
Microcephaly 30, Primary, Autosomal Recessive |
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Thin upper lip vermilion, Cleft soft palate, Pierre-Robin sequence, Primary microcephaly, Cerebra... |
OMIM:620183 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
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Tongue atrophy, Tongue fasciculations, Dysphagia |
OMIM:613435 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Exaggerated median tongue furrow, Prominent metopic ridge, Tented upper lip vermilion, Exaggerate... |
OMIM:608670 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Mandibular prognathia, Limitation of movement at ankles, Flat occiput, Protruding tongue, Cessati... |
ORPHA:98794 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
9q subtelomeric deletion syndrome |
|
Microcephaly, Midface retrusion, Protruding tongue |
DECIPHER:52 |
Grant Syndrome |
|
Joint dislocation, Frontal bossing, Micrognathia, Open bite, Large fontanelles, Brachycephaly, Wo... |
ORPHA:2097 |
Ritscher-Schinzel Syndrome 2 |
|
Relative macrocephaly, Intestinal malrotation, Camptodactyly of finger, Protruding tongue, Wide a... |
OMIM:300963 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Wide cranial sutures, Tented upper lip vermilion, Micrognathia, Hypoplasia o... |
OMIM:601390 |
Hypoglossia-Hypodactyly Syndrome |
|
Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Feeding diffic... |
ORPHA:989 |
Angelman Syndrome |
|
Mandibular prognathia, Flat occiput, Protruding tongue, Hypoplasia of the maxilla, Feeding diffic... |
OMIM:105830 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
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Cerebral calcification, Micrognathia, Carious teeth, Supernumerary tooth, Hypoplasia of the zygom... |
ORPHA:3145 |
Leber Congenital Amaurosis |
|
Keratoconus, Cataract |
ORPHA:65 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Congenital hip dislocation, Cleft soft palate, Micrognathia, Carious teeth, Cleft ... |
OMIM:117650 |
Cree Mental Retardation Syndrome |
|
Brachycephaly, Large fontanelles, Cleft soft palate, Micrognathia |
OMIM:606851 |
Zellweger Syndrome |
|
Death in infancy, Flat occiput, Micrognathia, Malabsorption, Pyloric stenosis, Wide anterior font... |
ORPHA:912 |
Schilbach-Rott Syndrome |
|
Microcephaly, Micrognathia, Submucous cleft hard palate, Narrow mouth, Bifid uvula |
OMIM:164220 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Optic nerve hypoplasia, Microcephaly, Micrognathia, Submucous cleft hard palate, Large fontanelle... |
OMIM:222765 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Micrognathia, Wide anterior fontanel, High palate, Short philtrum, Narrow mouth |
OMIM:201170 |
Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Midline notch of upp... |
OMIM:617127 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... |
OMIM:300048 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
Pycnodysostosis |
|
Frontal bossing, Persistent open anterior fontanelle, Delayed eruption of primary teeth, Persiste... |
OMIM:265800 |
Lowry-Maclean Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, ... |
ORPHA:2409 |
Neonatal Adrenoleukodystrophy |
|
Wide anterior fontanel, Dolichocephaly, Abnormal palate morphology, Macrocephaly |
ORPHA:44 |
Meckel Syndrome, Type 8 |
|
Abdominal distention, Microcephaly, Cleft palate, Cleft upper lip |
OMIM:613885 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Periventricular leukomalacia, Cleft soft palate, Abnormal caudate nucleus morphology, Short philt... |
ORPHA:293725 |
Solar Urticaria |
|
Abnormal lip morphology, Abnormal tongue morphology, Nausea |
ORPHA:97230 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Microcephaly, Cleft palate, Furrowed tongue, Cerebral atrophy, High p... |
OMIM:616449 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Turricephaly, Hypoplasia of the zygomatic bone, High palate, Short philtru... |
ORPHA:710 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Microcephaly, Platybasia, Decreased calvarial ossification, Stillbirth, Wormian bones |
OMIM:259410 |
Osteogenesis Imperfecta, Type Iii |
|
Frontal bossing, Protrusio acetabuli, Micrognathia, Wide anterior fontanel, Platybasia, Decreased... |
OMIM:259420 |
Desmosterolosis |
|
Frontal bossing, Intestinal malrotation, Absent septum pellucidum, Micrognathia, Pachygyria, Abno... |
ORPHA:35107 |
Acquired Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:95626 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... |
OMIM:619445 |
Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Frontal bossing, Thick cerebral cortex, Cerebellar vermis hypoplasia, Persistent open anterior fo... |
ORPHA:357058 |
Carey-Fineman-Ziter Syndrome |
|
Cerebral calcification, Aplasia/Hypoplasia of the tongue, Micrognathia, Microcephaly, Pierre-Robi... |
ORPHA:1358 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Micrognathia, Limited knee fl... |
OMIM:615065 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... |
ORPHA:1201 |
Acrofacial Dysostosis, Catania Type |
|
Smooth philtrum, Microretrognathia, Abnormality of the dentition, Carious teeth, Feeding difficul... |
ORPHA:1786 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Microcephaly, Wide ante... |
OMIM:614886 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Dandy-Walker malformation, Relative macrocephaly, Hamartoma of to... |
OMIM:616300 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy, Dysphagia |
ORPHA:216873 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Anorexia, Malabsorption, Abdominal pain, Diarrhea, Hypogeusia, Furrowed ton... |
ORPHA:2930 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Wide anterior fontanel, Frontal bossing, Death in infancy, Death in childhood |
OMIM:619064 |
Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Tented upper lip vermilion, Microcephaly, Brachycephaly, Narrow palate, Ag... |
OMIM:618644 |
Sweeney-Cox Syndrome |
|
Prominent metopic ridge, Flat occiput, Midface retrusion, Micrognathia, Wide anterior fontanel, V... |
OMIM:617746 |
Raine Syndrome |
|
Mandibular prognathia, Cerebral calcification, Micrognathia, Brachycephaly, High palate, Neonatal... |
OMIM:259775 |
9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Abnormal tongue morphology, Gastrointestinal dysmotility, Aplasia/Hypoplasia of... |
ORPHA:531151 |
Achondrogenesis Type 1A |
|
Frontal bossing, Micrognathia, Abdominal distention, Macrocephaly, Long philtrum |
ORPHA:93299 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Frontal bossing, Abnormal soft palate morpho... |
ORPHA:884 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial ag... |
OMIM:619103 |
Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Wide cranial sutures, Frontal bossing, Scaphocephaly, Dental malocclusi... |
OMIM:619149 |
Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy |
OMIM:254300 |
Nager Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, Cleft palate, Wide mouth, Hypopla... |
ORPHA:245 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus... |
OMIM:615582 |
Marchiafava-Bignami Disease |
|
Confusion, Aggressive behavior, Depression, Dementia, Abnormal emotion, Addictive alcohol use, Co... |
ORPHA:221074 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Feeding difficulties in infancy, Wide anterior fontanel, Poor suck |
OMIM:614859 |
Intellectual Disability-Short Stature-Hypertelorism Syndrome |
|
Frontal bossing, Hypoplasia of the zygomatic bone, Long philtrum |
ORPHA:3074 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, C... |
OMIM:114300 |
Cdags Syndrome |
|
Frontal bossing, Delayed cranial suture closure, Sagittal craniosynostosis, Rectourethral fistula... |
OMIM:603116 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Frontal bossing, Micrognathia, Cleft palate, Glossoptosis, Midface retrusion |
ORPHA:440354 |
Anauxetic Dysplasia 3 |
|
Wide anterior fontanel, Feeding difficulties, Genu valgum, Plagiocephaly, Oligodontia, Gastroesop... |
OMIM:618853 |
Cleidocranial Dysplasia 2 |
|
Delayed eruption of primary teeth, Hypoplasia of the maxilla, Wide anterior fontanel, Supernumera... |
OMIM:620099 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Turricephaly, Cloverleaf skull, Craniosynostosis, Dolichocephaly, Cleft palate, Narrow palate, An... |
ORPHA:1555 |
Mulibrey Nanism |
|
Frontal bossing, Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental mal... |
OMIM:253250 |
Deafness-Craniofacial Syndrome |
|
Frontal bossing, Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tong... |
ORPHA:3241 |
Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Micrognathia, High, ... |
ORPHA:193 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Wide anterior fontanel, Large fontanelles, Lissencephaly, Decreased liver function, Polymicrogyria |
OMIM:614883 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Wide anterior fontanel, Cerebral calcification, Midface retrusion, Feeding difficulties |
OMIM:617241 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Wide anterior fontanel, Macrocephaly |
OMIM:601356 |
Fibrochondrogenesis 1 |
|
Frontal bossing, Wide anterior fontanel, Narrow mouth, Cleft palate, Widely patent coronal suture... |
OMIM:228520 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Microcephaly, Carious teeth, Downturned corners of mouth, Hypoplasia of th... |
ORPHA:1110 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Microcephaly, Esophageal atresia, Submucous cleft hard palate, Spina bifida occulta, Tracheoesoph... |
OMIM:619227 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Tongue atrophy, Dysphagia |
OMIM:158900 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Frontal bossing, Brachycephaly, Cleft palate, Stillbirth, Protuberant abdomen,... |
OMIM:200610 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Flat occiput, Widely patent fontanelles and sutures, Micrognathia, Protruding tongue, High, narro... |
OMIM:214100 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Microcephaly, Micrognathia, Wide anterior fontanel, Brachycephaly, Retrognathia, Smooth philtrum |
OMIM:263210 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Lethal Kniest-Like Dysplasia |
|
Wide anterior fontanel, Protuberant abdomen, Cleft palate, Macrocephaly |
ORPHA:2347 |
Stickler Syndrome, Type I |
|
Arthropathy, Micrognathia, Osteoarthritis, Submucous cleft hard palate, Pierre-Robin sequence, Cl... |
OMIM:108300 |
Orofaciodigital Syndrome Type 10 |
|
Cleft soft palate, Accessory oral frenulum, Micrognathia, Tarsal synostosis, Long philtrum, Metat... |
ORPHA:2756 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Poor appetite, Abdominal pain, Intra-oral hyperpigmentation, Cheilitis, Dysphagia... |
ORPHA:54028 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Thin upper lip vermilion, Probst bundles, Frontal bossing, Dolichocephaly, High, narrow palate, S... |
OMIM:612863 |
Neu-Laxova Syndrome |
|
Cerebral calcification, Micrognathia, Pterygium, Pachygyria, Bifid uvula, Dandy-Walker malformati... |
ORPHA:2671 |
Agnathia-Otocephaly Complex |
|
Micrognathia, Aglossia, Cleft palate, Narrow mouth, Mandibular aplasia, Microglossia, Agenesis of... |
OMIM:202650 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Ankyloglossia |
OMIM:618021 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Micrognathia, Submucous cleft hard palate, Prominent occiput, Unilateral cleft lip, Unilateral cl... |
OMIM:619122 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Trismus, Submucous cleft hard palate, Branchial fistula |
OMIM:609166 |
Toluene Embryopathy |
|
Micrognathia, Microcephaly, Thin vermilion border, Hypoplasia of the zygomatic bone, Biparietal n... |
ORPHA:1920 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
Retinitis Pigmentosa |
|
Keratoconus, Cataract |
ORPHA:791 |
Ritscher-Schinzel Syndrome 3 |
|
Relative macrocephaly, Thin upper lip vermilion, Death in infancy, Cerebellar vermis hypoplasia, ... |
OMIM:619135 |
Carey-Fineman-Ziter Syndrome 1 |
|
Micrognathia, Microcephaly, Trismus, Pierre-Robin sequence, Bowel irritability, Cleft palate, Fee... |
OMIM:254940 |
Trisomy 8Q |
|
Camptodactyly of finger, Micrognathia, Non-midline cleft lip, Cleft palate, Orofacial cleft, Abno... |
ORPHA:1752 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent metopic ridge, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of cani... |
ORPHA:364577 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Frontal bossing, Abnormal dental enamel morphology, Aplasia/Hypoplasia of the cerebellum, Feeding... |
ORPHA:1812 |
Opitz-Kaveggia Syndrome |
|
Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Anteriorly placed anus, C... |
OMIM:305450 |
Brittle Cornea Syndrome |
|
Corneal dystrophy, Corneal erosion, Corneal scarring, Keratoglobus, Decreased corneal thickness |
ORPHA:90354 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Microcephaly... |
OMIM:610253 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Micrognathia, Large fontanelles, Cleft palate, Tongue nodules, Glos... |
OMIM:311900 |
Developmental And Epileptic Encephalopathy 80 |
|
Death in infancy, Tented upper lip vermilion, Protruding tongue, Micrognathia, Feeding difficulti... |
OMIM:618580 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Familial Cold Urticaria |
|
Polydipsia, Conjunctivitis |
ORPHA:47045 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Frontal bossing, Congenital hip dislocation, Microcephaly, Large fontanelles, Gastroesophageal re... |
OMIM:612940 |
X-Linked Mandibulofacial Dysostosis |
|
Microcephaly, Micrognathia, Branchial anomaly, Hypoplasia of the zygomatic bone, High palate |
ORPHA:1131 |
Marbach-Rustad Progeroid Syndrome |
|
Wormian bones, Delayed eruption of primary teeth, Micrognathia, Poor appetite, Microcephaly, Erup... |
OMIM:619322 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Abdominal distention, Diarrhea, Large fontanelles, Protein-losing enteropathy, ... |
OMIM:608104 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Microcephaly, Bilateral cleft lip and palate, High palate, Macrocephaly... |
OMIM:618874 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thin upper lip vermilion, Cerebellar vermis hypoplasia, Micrognathia, Feeding difficulties in inf... |
OMIM:611209 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Microretrognathia, Mandibular prognathia, Frontal bossing, Turricephaly, Aganglionic megacolon, M... |
OMIM:613603 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Diastema, Hypoplasia of the maxill... |
OMIM:300534 |
Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormalit... |
ORPHA:2753 |
Donnai-Barrow Syndrome |
|
Wide anterior fontanel, Macrocephaly, Intestinal malrotation, Aplasia/Hypoplasia of the corpus ca... |
ORPHA:2143 |
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 |
Toriello-Carey Syndrome |
|
Aganglionic megacolon, Micrognathia, Feeding difficulties in infancy, Wide anterior fontanel, Par... |
ORPHA:3338 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus, Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hyperactivit... |
ORPHA:401777 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Flat occiput, Intestinal malrotation, Micrognathia, Bilateral cleft lip and palate, Bifid tongue |
ORPHA:2001 |
W Syndrome |
|
Elbow dislocation, Submucous cleft hard palate, Agenesis of maxillary central incisor, Cubitus va... |
ORPHA:2804 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Frontal bossing, Genu recurvatum, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Wide... |
OMIM:182212 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Protruding tongue, Microcephaly, Dysplastic corpus callosum, Gingival overgrowth, Simplified gyra... |
OMIM:619179 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large posterior fontanelle, Feeding difficulties in infancy, Abdominal distention, Macroglossia, ... |
ORPHA:226313 |
Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Frontal bossing, Delayed eruption ... |
ORPHA:763 |
Idiopathic Congenital Hypothyroidism |
|
Large posterior fontanelle, Feeding difficulties in infancy, Macroglossia, Constipation, Delayed ... |
ORPHA:95717 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Prominent metopic ridge, Craniosynostosis, Microcephaly, Nasogastric tube feeding in infancy, Gas... |
ORPHA:453499 |
Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Keratoglobus, Astigmatism |
OMIM:108145 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Abnormal oral mucosa morphology, Camptodactyly of finger, Micrognathia, High, narrow palate, Narr... |
ORPHA:1968 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Wide cranial sutures, Tented upper lip vermilion, Micrognathia, Hypoplasia o... |
OMIM:615546 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, High, narrow ... |
ORPHA:2554 |
Microtriplication 11Q24.1 |
|
Keratoconus, Bruxism |
ORPHA:289522 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
Mpdu1-Cdg |
|
Wide anterior fontanel, Prominent frontal sinuses, Feeding difficulties, Thin vermilion border, P... |
ORPHA:79323 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Death in infancy, Flat occiput, Micrognathia, Abdominal distention, Alv... |
OMIM:235255 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Craniosynostosis, Abnormality of the dentition, Malabso... |
ORPHA:235 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Micrognathia, Microcephaly, Wide anterior fontanel, Pierre-Robin sequence, Cleft palate, Anterior... |
OMIM:217980 |
Orofaciodigital Syndrome I |
|
Porencephalic cyst, Lobulated tongue, High palate, Agenesis of corpus callosum, Microretrognathia... |
OMIM:311200 |
Walker-Warburg Syndrome |
|
Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Polymicrogyria, Submucous cle... |
ORPHA:899 |
Congenital Pancreatic Cyst |
|
Abdominal distention, Vomiting, Anorexia, Abdominal pain |
ORPHA:313906 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Cerebral calcification, Micrognathia, Microcephaly, Porencephalic cyst, Cleft p... |
ORPHA:1393 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Furrowed tongue |
ORPHA:2928 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Mandibular prognathia, Large fontanelles, Genu valgum, Hypoplasia of the zygomatic bone, Cubitus ... |
ORPHA:1778 |
Orofaciodigital Syndrome Type 6 |
|
Frontal bossing, Cerebellar vermis hypoplasia, Hamartoma of tongue, Micrognathia, Feeding difficu... |
ORPHA:2754 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Chronic diarrhea, Glossitis, Poor appetite |
ORPHA:2221 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, High palate, Branchial fist... |
ORPHA:861 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Frontal bossing, Wide cranial sutures, Dental crowding, Micrognathia, ... |
OMIM:257850 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Small intestinal dysmotility, Poor appetite, Abdominal pain, Atrophic muscularis propria, Abdomin... |
ORPHA:298 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Sialuria |
|
Thin upper lip vermilion, Frontal bossing, Macrocephaly, Macroglossia, High palate, Protuberant a... |
OMIM:269921 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Abnormality of th... |
ORPHA:3253 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Unilateral cleft palate, Craniosynostosis, Abnormality of the dentition, C... |
ORPHA:1299 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... |
ORPHA:2751 |
Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Furrowed ... |
OMIM:615108 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... |
ORPHA:160148 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Brachycephaly, Agenesis of corpus callosum, Bifid ... |
OMIM:101200 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, High, narrow palate, Deep philtrum, Brachycephaly, Downturned corners of m... |
OMIM:619950 |
Leber Congenital Amaurosis 9 |
|
Keratoconus, Eye poking |
OMIM:608553 |
Cardiofaciocutaneous Syndrome 1 |
|
Micrognathia, Feeding difficulties in infancy, Deep philtrum, High palate, Vomiting, Gastroesopha... |
OMIM:115150 |
Adiposis Dolorosa |
|
Abdominal distention, Constipation |
OMIM:103200 |
Mandibuloacral Dysplasia |
|
Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, High palate, Dela... |
ORPHA:2457 |
Familial Visceral Myopathy |
|
Aganglionic megacolon, Camptodactyly of finger, Microcephaly, Micrognathia, Abdominal distention,... |
ORPHA:2604 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Cleft soft palate, Microcephaly, Micrognathia, Feeding difficulties, Submucous cleft soft palate |
ORPHA:2282 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Midface retrusion, Median cleft lip, Flat occiput, Bilateral cleft lip, H... |
OMIM:610828 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Dolichocephaly, Carious teeth, Flat acetabular roof, Thick vermilion border, Widely spaced teeth,... |
OMIM:617102 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Irritability, Polydipsia |
OMIM:125800 |
Buratti-Harel Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, Gastroesophageal reflux, High palate, ... |
OMIM:619314 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Irritability, Polydipsia |
OMIM:304800 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy |
OMIM:616155 |
Native American Myopathy |
|
Micrognathia, Cleft palate, Feeding difficulties, Downturned corners of mouth, High palate, Gastr... |
ORPHA:168572 |
Schneckenbecken Dysplasia |
|
Advanced ossification of carpal bones, Flat acetabular roof, Cleft palate, Stillbirth, Protuberan... |
OMIM:269250 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Lobulated tongue, High palate, Agenesis of corpus callosum, Dandy-Walker malformati... |
ORPHA:2750 |
Tetrasomy 5P |
|
Pericallosal lipoma, Micrognathia, Wide anterior fontanel, Macrocephaly, High palate, Cerebellar ... |
ORPHA:3309 |
Holzgreve Syndrome |
|
Turricephaly, Aplasia/Hypoplasia of the tongue, Cleft palate, Aplasia/Hypoplasia of the corpus ca... |
ORPHA:2167 |
1Q41Q42 Microdeletion Syndrome |
|
Frontal bossing, Submucous cleft hard palate, Thick vermilion border, Cleft palate |
ORPHA:250999 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Keratoconus |
OMIM:609438 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Carious teeth, Glossoptosis, Delayed ossification of carpal bones, Micrognathia |
ORPHA:93346 |
White-Sutton Syndrome |
|
Mandibular prognathia, Wormian bones, Optic nerve hypoplasia, Micrognathia, Microcephaly, Brachyc... |
OMIM:616364 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Microcephaly, Submucous cleft hard palate, Downturned corners of mouth,... |
OMIM:619680 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Malabsorption, Micrognathia, Protruding tongue, Diarrhea, Macroglossia, Malar flattening |
OMIM:242860 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Long philtrum, Dislocated radial head,... |
OMIM:268310 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Keratitis, Irritability, Emotional lability, Polydipsia, Polyphagia |
ORPHA:525731 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Frontal bossing, Micrognathia, Feeding difficulties, Thin calvarium, Midface retrusion, Delayed c... |
ORPHA:1129 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Hypoplasia of the z... |
OMIM:613717 |
Frontorhiny |
|
Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinu... |
ORPHA:391474 |
Lelis Syndrome |
|
Mandibular prognathia, Carious teeth, Furrowed tongue, Hypodontia, Midface retrusion |
ORPHA:140936 |
Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Furrowed ... |
OMIM:615109 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's bow, Microcephaly, High, n... |
ORPHA:464738 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Relative macrocephaly, Thickened calvaria, Frontal bossing, Dental crowding, High, narrow palate,... |
OMIM:300967 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Frontal open bite, Micrognathia, Delayed closure of the anterior fontanelle, Wide anterior fontan... |
OMIM:225410 |
Zttk Syndrome |
|
Hypoplasia of the maxilla, Feeding difficulties in infancy, Downturned corners of mouth, High pal... |
OMIM:617140 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... |
OMIM:270420 |
Thyroid Hypoplasia |
|
Large fontanelles, Macroglossia, Constipation, Abdominal distention |
ORPHA:95720 |
Ring Chromosome 22 Syndrome |
|
Absent septum pellucidum, Microcephaly, Protruding tongue, Thick vermilion border, Dolichocephaly... |
ORPHA:1446 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Flat occiput, Absent septum pellucidum, Protruding tongue, Microcephaly, Brachycephaly, Feeding d... |
ORPHA:96147 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi... |
ORPHA:1071 |
Platyspondylic Dysplasia, Torrance Type |
|
Abdominal distention, Abnormal carpal morphology, Cleft palate, Malar flattening, Genu varum |
ORPHA:85166 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Micrognathia, High, narrow palate, Cleft palate, Glossoptosis, Radioulnar synostosis, Abnormality... |
ORPHA:436003 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Optic nerve hypoplasia, Cleft upper lip, Hypoplasia of the maxilla,... |
OMIM:610829 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Macrodontia, Protruding tongue, Diastema, Microcephaly, Gingival overgrowt... |
OMIM:212066 |
Tenorio Syndrome |
|
Mandibular prognathia, Wide mouth, Macroglossia, Gastroesophageal reflux, Recurrent aphthous stom... |
OMIM:616260 |
3Mc Syndrome 1 |
|
Dental crowding, Cleft upper lip, Microcephaly, Cleft lip, Wide anterior fontanel, Cleft palate, ... |
OMIM:257920 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent septum pellucidum, Microcephaly, Prominent occiput, Hypoplasia of the zygomatic bone, High... |
OMIM:618500 |
Hypoglossia-Hypodactylia |
|
Micrognathia, Aglossia, Narrow mouth, Microglossia, Retrognathia |
OMIM:103300 |
Kinsship Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Death in infancy, Micrognathia, Microcephaly, Th... |
OMIM:619297 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Relative macrocephaly, Frontal bossing, Abnormality of the dentition, Micr... |
OMIM:151050 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Flat occiput, Protruding tongue, Gingival overgrowth, Cerebral atrophy, Brachycephaly, Wide mouth... |
OMIM:618797 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Feeding difficulties in inf... |
OMIM:618371 |
Au-Kline Syndrome |
|
Prominent metopic ridge, Sagittal craniosynostosis, Craniosynostosis, Dental malocclusion, Retrog... |
OMIM:616580 |
Moebius Syndrome |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Micrognathia, Feeding difficulties in infancy... |
ORPHA:570 |
Marshall-Smith Syndrome |
|
Craniosynostosis, Protruding tongue, Gingival overgrowth, Cerebellar hypoplasia, Open mouth, Retr... |
ORPHA:561 |
Angelman Syndrome |
|
Keratoconus, Hyperactivity, Aggressive behavior, Tongue thrusting, Self-injurious behavior, Astig... |
ORPHA:72 |
Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption |
OMIM:606824 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Thickened calvaria, Abnormal dental enamel morphology, Absent septum pellu... |
ORPHA:2658 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Malar flattening, Hypoplasia of the zygomatic bone, Macrocephaly |
ORPHA:2835 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal distention... |
ORPHA:92050 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Micrognathia, Osteoarthritis, Abnormal joint morphology, Cleft palate, Glossopto... |
ORPHA:1427 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematoche... |
OMIM:175500 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Large posterior fontanelle, Frontal bossing, Esophageal diverticulum, Hamartoma of t... |
OMIM:617925 |
Hereditary Folate Malabsorption |
|
Nausea and vomiting, Cerebral calcification, Anorexia, Diarrhea, Cheilitis, Gastroesophageal refl... |
ORPHA:90045 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion... |
ORPHA:870 |
Neu-Laxova Syndrome 2 |
|
Micrognathia, Microcephaly, Cleft palate, Lissencephaly, High palate, Protuberant abdomen, Cerebe... |
OMIM:616038 |
Otopalatodigital Syndrome Type 2 |
|
Thickened calvaria, Tarsal synostosis, Camptodactyly of finger, Micrognathia, Elbow dislocation, ... |
ORPHA:90652 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Protruding tongue, Micrognathia, Cerebral atrophy, Feeding difficulties, Progre... |
OMIM:608779 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Mandibular prognathia, Protruding tongue, Microcephaly, Cerebral atrophy, Feeding difficulties, E... |
OMIM:617804 |
Achondrogenesis, Type Ib |
|
Malar flattening, Stillbirth, Abdominal distention |
OMIM:600972 |
Developmental And Epileptic Encephalopathy 31B |
|
Reduced cerebral white matter volume, Protruding tongue, Gingival overgrowth, Feeding difficultie... |
OMIM:620352 |
Cole-Carpenter Syndrome 1 |
|
Frontal bossing, Wormian bones, Micrognathia, Midface retrusion, Microdontia, Coronal craniosynos... |
OMIM:112240 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Micrognathia, Hip dislocation, Tracheoesophageal fistula, Orofa... |
ORPHA:958 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Frontal bossing, Abnormality of the dentition, Micrognathia, High, narrow palate, Su... |
ORPHA:2108 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Frontal bossing, Wide anterior fontanel, Humeroradial synostosis, Brachycephaly, Lambdoidal crani... |
OMIM:207410 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Micrognathia, Microcephaly, Subm... |
OMIM:301043 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Midface retrusion, Hypoplasia of the maxilla, S... |
ORPHA:2588 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Microglossia, Narrow mouth |
ORPHA:1972 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Cerebellar vermis hypoplasia, Hamartoma of tongue, Abnormality of the dentit... |
ORPHA:2752 |
Cystinosis |
|
Polydipsia, Abnormal repetitive mannerisms, Corneal opacity |
ORPHA:213 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Death in infancy, Vertebral fusion, Block vertebrae, Abdominal distention, Protuberant abdomen |
OMIM:277300 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Prominent metopic ridge, Micrognathia, Pachygyria, Microcephaly, Large fontanelles, Osteochondros... |
ORPHA:2995 |
Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
Opitz Gbbb Syndrome |
|
Micrognathia, Feeding difficulties in infancy, High palate, Agenesis of corpus callosum, Dandy-Wa... |
ORPHA:2745 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Brachycephaly, High palate, Parietal... |
OMIM:234100 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Decreased corneal thickness |
ORPHA:293967 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Ramos-Arroyo Syndrome |
|
Frontal bossing, Aganglionic megacolon, Carious teeth, Feeding difficulties in infancy, Xerostomi... |
ORPHA:1051 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Rectal prolapse, Hypoplastic facial bones, Feeding difficulties, Gastroesophag... |
OMIM:619793 |
D-Bifunctional Protein Deficiency |
|
Frontal bossing, Delayed cranial suture closure, Cerebral dysmyelination, Micrognathia, Feeding d... |
OMIM:261515 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Dental crowding, Micrognathia, Hypoplasia of teeth, High palate, Narrow... |
OMIM:608612 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin upper lip vermilion, Hip contracture, Deep philtrum, Submucous cleft hard palate, Thin lower... |
OMIM:619194 |
Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Sagittal craniosynostosis, Craniosynostosis, Aplasia/Hypoplasia of the patella, Wi... |
OMIM:617063 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Protruding tongue, Diastema, Absent frontal sinuses, Microcephaly, Thick l... |
OMIM:301040 |
Cowden Syndrome 1 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Hemimegal... |
OMIM:158350 |
Marshall-Smith Syndrome |
|
Irregular dentition, Anteriorly placed anus, Glossoptosis, Short philtrum, High palate, Death in ... |
OMIM:602535 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... |
ORPHA:1507 |
Fibrochondrogenesis |
|
Camptodactyly of finger, Wide anterior fontanel, Cleft palate, Plagiocephaly, Narrow mouth |
ORPHA:2021 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Death in infancy, Abdominal distention, Dysplastic corpus callosum, Arthritis, Secondary microcep... |
OMIM:619423 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Midface retrusion, Dental crowding, Microgna... |
OMIM:300990 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Velocardiofacial Syndrome |
|
Microcephaly, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, C... |
OMIM:192430 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Turricephaly, Abnormal dental enamel morphology, Micr... |
ORPHA:2050 |
Gapo Syndrome |
|
Frontal bossing, Delayed closure of the anterior fontanelle, Micrognathia, High, narrow palate, W... |
OMIM:230740 |
Dysostosis Multiplex, Ain-Naz Type |
|
Abdominal distention, Hip dislocation, Thin corpus callosum, Flat acetabular roof |
OMIM:619345 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Micr... |
OMIM:277170 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Accessory oral frenulum, Hamartoma of tongue, Microcephaly, Supernumerary toot... |
ORPHA:434179 |
Trisomy 10P |
|
Abnormal hip joint morphology, Wide cranial sutures, Frontal bossing, Periventricular white matte... |
ORPHA:171929 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, High, narrow palate, H... |
OMIM:119600 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Micrognathia, Carious teeth, Feeding difficulties in infancy, Velophar... |
OMIM:223370 |
Acrodermatitis Enteropathica |
|
Anorexia, Malabsorption, Poor appetite, Chronic diarrhea, Cheilitis, Abnormality of the tongue, F... |
ORPHA:37 |
Icf Syndrome |
|
Malabsorption, Micrognathia, Protruding tongue, Macroglossia, Macrocephaly |
ORPHA:2268 |
Cardiofaciocutaneous Syndrome |
|
Frontal bossing, Feeding difficulties in infancy, Submucous cleft hard palate, Functional abnorma... |
ORPHA:1340 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Frontal bossing, Micrognathia, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate,... |
OMIM:616894 |
Microphthalmia With Limb Anomalies |
|
Death in infancy, Frontal bossing, Macrodontia, Hypoplasia of the premaxilla, Tarsal synostosis, ... |
ORPHA:1106 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, Anteriorly placed anus,... |
OMIM:218600 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Feeding difficulties in infancy, Gastrointestinal dysmotility, Simplif... |
ORPHA:500150 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Micrognathia, High, narrow palate, Brachycep... |
OMIM:612289 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Prominent metopic ridge, Dental crowding, Micrognathia, High, narrow p... |
ORPHA:2789 |
Ochoa Syndrome |
|
Polydipsia |
ORPHA:2704 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Cerebellar vermis hypoplasia, Hamartoma of tongue, Micrognathia, ... |
OMIM:615948 |
Lead Poisoning |
|
Delayed eruption of teeth, Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Cranial h... |
ORPHA:330015 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Narrow mouth, Mandibular aplasia, Microglossia, Agenesis of... |
ORPHA:990 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Cognitive impairment |
OMIM:615994 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Intestinal malrotation, Hypoplasia of the premaxilla, Micrognathia, Microcephaly, Cleft palate, O... |
ORPHA:2166 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue atrophy, Tongue fasciculations |
OMIM:601596 |
Marden-Walker Syndrome |
|
Absent septum pellucidum, Camptodactyly of finger, Micrognathia, Microcephaly, Pyloric stenosis, ... |
ORPHA:2461 |
Wolman Disease |
|
Nausea and vomiting, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea, Hepatic f... |
ORPHA:75233 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Malabsorption, Chronic diarrhea, Glossoptosis, Arthritis |
ORPHA:47 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Wide anterior fontanel, Vomiting, Macrocephaly, Neonatal death, Pachygyria, Nausea |
OMIM:231680 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Hip contracture, Wide cranial sutures, Frontal bossing, Interphalangea... |
OMIM:259600 |
Holoprosencephaly 2 |
|
Aplasia of the premaxilla, Proboscis, Microcephaly, Submucous cleft hard palate, Bilateral cleft ... |
OMIM:157170 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Cleft soft palate, Microcephaly, Pyloric stenosis, Supernumerary tooth, Nasogastric tube feeding ... |
ORPHA:268261 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... |
OMIM:277320 |
Immunodeficiency 49 |
|
Natal tooth, Reduced cerebral white matter volume, Micrognathia, Short philtrum, Wormian bones, A... |
OMIM:617237 |
Campomelic Dysplasia |
|
Relative macrocephaly, Irregular dentition, Frontal bossing, Micrognathia, Carious teeth, Wide an... |
OMIM:114290 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Mandibular prognathia, Malar prominence, Wide mouth, Hypoplasia of the zygomatic bone, Aplasia/Hy... |
ORPHA:2715 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Frontal bossing, Feeding difficulties, Macroglossia, Malar flattening, Midface retrusion, Delayed... |
OMIM:613038 |
Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Flat occiput, Micrognathia, Wide anterior fontanel, Dental malocclusion... |
OMIM:249420 |
Pitt-Hopkins-Like Syndrome 2 |
|
Protruding tongue, Feeding difficulties, Wide mouth, Gastroesophageal reflux, Constipation |
OMIM:614325 |
Distal Deletion 12Q |
|
Frontal bossing, Median cleft lip, Micrognathia, Microcephaly, High, narrow palate, Supernumerary... |
ORPHA:96149 |
Hajdu-Cheney Syndrome |
|
Intestinal malrotation, Abnormality of the dentition, Open bite, Absent frontal sinuses, Microgna... |
ORPHA:955 |
Alg9-Cdg |
|
Microretrognathia, Thin upper lip vermilion, Villous atrophy, Prominent metopic ridge, Frontal bo... |
ORPHA:79328 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy |
ORPHA:103910 |
Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Micrognathia, Cleft palate, Flat acetabular roof, Genu valgum, Glossoptos... |
ORPHA:94068 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Nar... |
OMIM:154500 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Submucous cleft hard palate, Bifid uvula, Microcephaly |
OMIM:617660 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Flat occiput, Micrognathia, Abdominal distention, Alveolar ridge overgr... |
ORPHA:1655 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Microretrognathia, Congenital hip dislocation, Wormian bones, Delayed ... |
OMIM:278250 |
Spinocerebellar Ataxia Type 36 |
|
Tongue atrophy, Tongue fasciculations, Bowel incontinence, Dysphagia |
ORPHA:276198 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Thin upper lip vermilion, Micrognathia, Feeding difficulties in infancy, Wide anterior fontanel, ... |
OMIM:618548 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue atrophy, Tongue fasciculations |
OMIM:620285 |
Osteogenesis Imperfecta, Type Iv |
|
Wormian bones, Otosclerosis, Dentinogenesis imperfecta |
OMIM:166220 |
Viss Syndrome |
|
Chronic gastritis, Micrognathia, High, narrow palate, Brachycephaly, High palate, Gastroesophagea... |
OMIM:619472 |
Tarp Syndrome |
|
Micrognathia, Pierre-Robin sequence, Large fontanelles, Alveolar ridge overgrowth, Cleft palate, ... |
ORPHA:2886 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Thin upper lip vermilion, Hypoplasia of the zygomatic bone, Genu valgum |
ORPHA:1295 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Micrognathia, Microglossia, Cleft palate, Hydranencephaly, Thick anterio... |
ORPHA:2839 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Death in infancy, Microcephaly, Abdominal distention, Knee contracture, Feeding difficulties, Gas... |
OMIM:620275 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation |
ORPHA:168829 |
Malignant Peritoneal Mesothelioma |
|
Abdominal distention, Peritonitis, Ileus, Abdominal pain |
ORPHA:168811 |
Hereditary Angioedema Type 1 |
|
Tongue edema, Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiti... |
ORPHA:100050 |
Familial Hyperaldosteronism Type I |
|
Polydipsia |
ORPHA:403 |
Psoriasis 14, Pustular |
|
Oligoarthritis, Polyarticular arthritis, Geographic tongue, Furrowed tongue |
OMIM:614204 |
Holoprosencephaly |
|
Frontal bossing, Median cleft lip, Flat occiput, Bilateral cleft lip, Aplasia/Hypoplasia of the c... |
ORPHA:2162 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal lip morphology, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue |
ORPHA:2759 |
Nephronophthisis 11 |
|
Anisocoria, Polydipsia |
OMIM:613550 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Frontal bossing, Enlargement of the ankles, Wide cranial sutures, Flat... |
ORPHA:289157 |
Double Outlet Right Ventricle |
|
Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Feeding difficulties, Narrow m... |
ORPHA:3426 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Protruding tongue, Micrognathia, Bilateral camptodactyly, Elbow flexi... |
OMIM:619777 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Frontal bossing, Flexion contracture of finger, Micrognathia, Hypoplas... |
OMIM:601812 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Anencephaly, Lobulate... |
OMIM:269860 |
Spinocerebellar Ataxia 36 |
|
Tongue atrophy, Tongue fasciculations, Dysphagia |
OMIM:614153 |
Celiac Disease, Susceptibility To, 1 |
|
Cerebral calcification, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Vomiting,... |
OMIM:212750 |
Hereditary Mucoepithelial Dysplasia |
|
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Hypoplasia of the olfactory bulb, Failure of eruption ... |
ORPHA:2250 |
Curry-Jones Syndrome |
|
Bicoronal synostosis, Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip p... |
OMIM:601707 |
Mend Syndrome |
|
Micrognathia, Asymmetry of the mouth, Wide anterior fontanel, Cleft palate, High palate, Hypoplas... |
ORPHA:401973 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Frontal bossing, Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, Cleft lip, M... |
OMIM:616975 |
Cousin Syndrome |
|
Frontal bossing, Micrognathia, Humeroradial synostosis, Alveolar ridge overgrowth, Cleft palate, ... |
OMIM:260660 |
Restrictive Dermopathy 1 |
|
Natal tooth, Micrognathia, Wide anterior fontanel, Submucous cleft hard palate, Temporomandibular... |
OMIM:275210 |
Stickler Syndrome |
|
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, Oste... |
ORPHA:828 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Feeding difficulties in infancy, Brachycephaly, Orofacial cleft, High palate, Gastroesophageal re... |
OMIM:607872 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Camptodactyly of finger, Micrognathia, Microcephaly, Submucous cleft hard palate, Feeding difficu... |
ORPHA:3047 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Abdominal distention |
OMIM:174050 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue atrophy, Dysphagia, Ankle clonus, Tongue fasciculations, Death in childhood |
OMIM:211530 |
Osteogenesis Imperfecta, Type Vii |
|
Death in infancy, Wide cranial sutures, Protrusio acetabuli, Wide anterior fontanel, Decreased ca... |
OMIM:610682 |
Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Death in infancy, Enlarged joints, Frontal bossing, Micrognathia, Carious teeth, Elb... |
OMIM:601559 |
Primary Effusion Lymphoma |
|
Abdominal distention, Abdominal pain |
ORPHA:48686 |
Myopathy, Myofibrillar, 7 |
|
Tongue atrophy, Elbow flexion contracture, Bowel incontinence, Dysphagia |
OMIM:617114 |
Infantile Nephropathic Cystinosis |
|
Abnormal cornea morphology, Polydipsia, Cognitive impairment, Corneal crystals |
ORPHA:411629 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Microcephaly, Feeding difficulties in infancy, Submucous cleft hard palate, Cerebral atrophy, Ank... |
OMIM:618891 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Multiple joint dislocation, ... |
OMIM:619503 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Frontal bossing, Dental crowding, Persistence of primary teeth, Microgn... |
ORPHA:97360 |
Autosomal Dominant Robinow Syndrome |
|
Micrognathia, High, narrow palate, Abnormality of the gingiva, Downturned corners of mouth, Oligo... |
ORPHA:3107 |
Limb-Mammary Syndrome |
|
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Malar flatte... |
ORPHA:69085 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Prominent occiput, Hypoplasia of the zygomatic bone, High palate, Solitary median maxillary centr... |
ORPHA:556955 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Severe periodontitis, Protruding tongue, Microcephaly, Deep philtrum, Prem... |
ORPHA:99843 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Malnutrition, Dysphagia, ... |
ORPHA:89842 |
Coffin-Siris Syndrome 12 |
|
Frontal bossing, Midface retrusion, Micrognathia, Celiac disease, Microcephaly, Velopharyngeal in... |
OMIM:619325 |
Oculogastrointestinal Muscular Dystrophy |
|
Spontaneous esophageal perforation, Gastroparesis, Intestinal pseudo-obstruction, Malabsorption, ... |
ORPHA:1876 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Everted lower lip vermilion, Smooth philtrum, Protruding tongue |
ORPHA:324410 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Microretrognathia, Hip contracture, Cleft palate, Feeding difficulties, Downturned corners of mou... |
ORPHA:488642 |
Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Micrognathia, Protruding tongue, Microcephaly, Simplified gyral pattern... |
OMIM:617062 |
Atelosteogenesis, Type I |
|
Frontal bossing, Micrognathia, Elbow dislocation, Cleft palate, Knee dislocation, Fused cervical ... |
OMIM:108720 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Arthropathy, Large fontanelles, Arthritis, High palate, Wormian bones, Thickened calvaria |
OMIM:259100 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia |
OMIM:613677 |
Ovarian Fibroma |
|
Abdominal distention, Odontogenic keratocysts of the jaw, Peritonitis, Abdominal pain |
ORPHA:314473 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Glossoptosis, Biparietal narrowing |
ORPHA:2031 |
Melkersson-Rosenthal Syndrome |
|
Macroglossia, Cheilitis, Furrowed tongue |
ORPHA:2483 |
East Syndrome |
|
Polydipsia, Salt craving |
ORPHA:199343 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Optic nerve hypoplasia, Cleft soft palate, Microcephaly, Genu valgum, Dow... |
OMIM:619321 |
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Chronic constipation, Ankyloglossia |
OMIM:619352 |
Osteogenesis Imperfecta, Type I |
|
Wormian bones, Otosclerosis, Dentinogenesis imperfecta |
OMIM:166200 |
Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Microcephaly, Hypoplasia of the maxilla, Periodontitis, Wormian bones, Mal... |
OMIM:231070 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormality of the philtrum, Hypoplasia of the premaxilla, Abnormal oral m... |
ORPHA:2673 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Thin upper lip vermilion, Branchial fistula, Camptodactyly of finger, Bowel incontinence, Microce... |
ORPHA:261330 |
Whipple Disease |
|
Polydipsia, Anorexia, Depression |
ORPHA:3452 |
Methanol Poisoning |
|
Addictive alcohol use, Confusion |
ORPHA:31825 |
Hereditary Acrokeratotic Poikiloderma |
|
Turricephaly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the dentit... |
ORPHA:2907 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Frontal bossing, Dental crowding, Brachycephaly, Narrow palate, High pa... |
OMIM:616078 |
Ayme-Gripp Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Mandibular prognathia, Delayed cranial suture closure,... |
OMIM:601088 |
Folinic Acid-Responsive Seizures |
|
Frontotemporal cerebral atrophy, Abdominal distention |
ORPHA:79097 |
Tolchin-Le Caignec Syndrome |
|
Micrognathia, Submucous cleft hard palate, Scaphocephaly, Oxycephaly, Prominent occiput, High pal... |
OMIM:618971 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Dislocated radial head, Micrognathia, Hypoplasia of the premaxilla, Mandibular condyle hypoplasia |
ORPHA:2975 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Thin vermilion border, Hypoplasia of the zygomatic bone, Brachycephaly, Long philtrum |
OMIM:614800 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Ankle flexion contracture, Abdominal pain, Abdominal distention, Diarrhea, Constipation, Episodic... |
ORPHA:100924 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Glossitis, Cleft palate, Feeding difficulties |
ORPHA:79284 |
Familial Hyperaldosteronism Type Iii |
|
Polydipsia |
ORPHA:251274 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Thin upper lip vermilion, Hip contracture, Micrognathia, Microcephaly, Knee flexion contracture, ... |
OMIM:210730 |
Bazex-Dupre-Christol Syndrome |
|
Furrowed tongue |
OMIM:301845 |
Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Abdominal pain, Celiac disease, Hematemesis, Esophagea... |
OMIM:301068 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Conjunctivitis |
OMIM:242150 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Acetabular spurs, Bif... |
OMIM:613091 |
Smith-Lemli-Opitz Syndrome |
|
Diffuse cerebral atrophy, Dental crowding, Micrognathia, Gastrointestinal dysmotility, Partial ag... |
OMIM:270400 |
Brain-Lung-Thyroid Syndrome |
|
Short attention span, Hyperactivity, Abnormal eating behavior, Abnormal drinking behavior, Compul... |
ORPHA:209905 |
Lacrimoauriculodentodigital Syndrome |
|
Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ... |
ORPHA:2363 |
Diamond-Blackfan Anemia |
|
Cleft soft palate, Micrognathia, Microcephaly, Cleft lip, High palate, Adenocarcinoma of the colon |
ORPHA:124 |
Schimke Immuno-Osseous Dysplasia |
|
Abdominal distention, Abnormal primary molar morphology, Abnormal intestine morphology, Hypodonti... |
ORPHA:1830 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Tracheoesophageal fistula, Feeding difficulties, High palate, Stomatiti... |
OMIM:277380 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Micrognathia, Microcephaly, Downturned corners of mouth, Glossoptosis, ... |
ORPHA:444077 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Nausea and vomiting, Oral mucosal blisters, Abdominal distention, Congenital pyloric atresia, Pte... |
ORPHA:79403 |
Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... |
OMIM:155310 |
Nail-Patella Syndrome |
|
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign |
OMIM:161200 |
Hartnup Disease |
|
Glossitis, Gingivitis, Malabsorption |
ORPHA:2116 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus |
ORPHA:542306 |
Thyroid Ectopia |
|
Large fontanelles, Macroglossia, Constipation, Abdominal distention |
ORPHA:95712 |
Smith-Lemli-Opitz Syndrome |
|
Micrognathia, Feeding difficulties in infancy, Gastroesophageal reflux, Biparietal narrowing, Apl... |
ORPHA:818 |
Prolidase Deficiency |
|
Carious teeth, Genu valgum, Hypoplasia of the zygomatic bone, Micrognathia |
ORPHA:742 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Parietal foramina, Cleft of chin, Oxycephaly, Brachycephaly, Cleft pal... |
OMIM:101400 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Large ba... |
ORPHA:261537 |
Joubert Syndrome 1 |
|
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Protruding tongue, Microcephaly, Mac... |
OMIM:213300 |
Imerslund-Gräsbeck Syndrome |
|
Angular cheilitis, Poor appetite, Constipation, Vomiting, Glossitis |
ORPHA:35858 |
Alagille Syndrome |
|
Keratoconus, Abnormal pupil morphology, Corneal dystrophy |
ORPHA:52 |
Nephrogenic Diabetes Insipidus |
|
Polydipsia, Anorexia |
ORPHA:223 |
Osteogenesis Imperfecta, Type Viii |
|
Wormian bones, Wide anterior fontanel, Decreased calvarial ossification, Dentinogenesis imperfecta |
OMIM:610915 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cognitive impairment, Memory impairment, Addictive alcohol use, Progressive neurologic deterioration |
ORPHA:90065 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Midface retrusion, Wormian bones, Aganglionic megacol... |
ORPHA:798 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain |
ORPHA:83469 |
Chand Syndrome |
|
Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... |
ORPHA:1401 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Craniosynostosis, Oral mucosal blisters, Feeding difficulties, Smooth tongue, Enamel hypoplasia, ... |
ORPHA:79396 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors, High palate, ... |
OMIM:309580 |
Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Micrognathia, Protruding tongue, Protuberant abdomen, Long philtrum, Malar flattenin... |
ORPHA:50945 |
Peritoneal Cystic Mesothelioma |
|
Abdominal distention, Peritonitis, Constipation, Abdominal pain |
ORPHA:168816 |
1Q21.1 Microdeletion Syndrome |
|
Frontal bossing, Microcephaly, Ankyloglossia, High palate, Long philtrum, Agenesis of corpus call... |
ORPHA:250989 |
Catel-Manzke Syndrome |
|
Joint dislocation, Cleft upper lip, Micrognathia, Pierre-Robin sequence, Cleft palate, Genu valgu... |
OMIM:616145 |
Gm1-Gangliosidosis, Type Ii |
|
Protruding tongue, Narrow mouth, Gingival overgrowth, Cerebral atrophy, Dysphagia |
OMIM:230600 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrow... |
ORPHA:769 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Posterior plagiocephaly, Oligodontia, Widely spaced teeth, Gastroesophageal ... |
OMIM:615873 |
Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia |
ORPHA:231580 |
Warburg-Cinotti Syndrome |
|
Corneal neovascularization, Limbal stem cell deficiency, Symblepharon, Decreased corneal thickness |
OMIM:618175 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Abdominal distention |
ORPHA:369 |
Chylomicron Retention Disease |
|
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption |
ORPHA:71 |
Yunis-Varon Syndrome |
|
Micrognathia, Abnormal occipital bone morphology, High, narrow palate, Broad secondary alveolar r... |
ORPHA:3472 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Large ba... |
ORPHA:261552 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Gastroin... |
ORPHA:2152 |
Nephronophthisis 1 |
|
Polydipsia |
OMIM:256100 |
Bilateral Perisylvian Polymicrogyria |
|
Cerebellar vermis hypoplasia, Micrognathia, Protruding tongue, Microcephaly, Perisylvian predomin... |
ORPHA:98889 |
Colonic Atresia |
|
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Distal Deletion 15Q |
|
Thin upper lip vermilion, Flat occiput, Abnormality of the dentition, Micrognathia, Microcephaly,... |
ORPHA:1596 |
Nephrotic Syndrome, Type 1 |
|
Pyloric stenosis, Gastroesophageal reflux, Abdominal distention |
OMIM:256300 |
Costello Syndrome |
|
Keratoconus |
ORPHA:3071 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Cleft soft palate, Feeding difficulties |
OMIM:614557 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly, Bifid uvula, Craniosynostosis, Micrognathia |
OMIM:601374 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of the temporomandibular joint, Protruding tongue, Macroglossia, Gastroesophageal ref... |
ORPHA:258 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Polydipsia |
ORPHA:369929 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Microcephaly, Aplasia/Hypoplasia of the cerebra... |
OMIM:235730 |
Secondary Non-Traumatic Avascular Necrosis |
|
Addictive alcohol use |
ORPHA:399180 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Hip dislocation, Cleft palate,... |
OMIM:309350 |
Odontoonychodermal Dysplasia |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
Microphthalmia, Syndromic 6 |
|
Midface retrusion, Micrognathia, Microcephaly, Brachycephaly, Cleft palate, Aplasia/Hypoplasia of... |
OMIM:607932 |
Achondrogenesis, Type Ia |
|
Turricephaly, Stillbirth, Protuberant abdomen, Protruding tongue |
OMIM:200600 |
Meckel Syndrome, Type 1 |
|
Smooth philtrum, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Camptodactyly of ... |
OMIM:249000 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal distention, V... |
OMIM:613070 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Elbow flexion contracture, Knee flexion contracture, Furrowed tongue, Microdontia, Oral leukoplakia |
OMIM:148210 |
Giant Cell Arteritis |
|
Anorexia, Abdominal pain, Arthritis, Gastrointestinal infarctions, Hepatic failure, Glossitis |
ORPHA:397 |
Juvenile Sialidosis Type 2 |
|
Gingival overgrowth, Dysphagia, Protruding tongue |
ORPHA:93399 |
Microvillus Inclusion Disease |
|
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea |
ORPHA:2290 |
Wiedemann-Rautenstrauch Syndrome |
|
Downturned corners of mouth, Short philtrum, Premature loss of teeth, Agenesis of corpus callosum... |
ORPHA:3455 |
Pallister-Hall Syndrome |
|
Natal tooth, Cleft upper lip, Radial head subluxation, Hip dislocation, Cleft palate, Anteriorly ... |
OMIM:146510 |
Smith-Mccort Dysplasia 1 |
|
Microcephaly, Hypoplastic facial bones, Genu valgum, Dolichocephaly, Hypoplastic acetabulae, Genu... |
OMIM:607326 |
Apparent Mineralocorticoid Excess |
|
Polydipsia |
ORPHA:320 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Xerostomia, Macroglossia, Dysph... |
ORPHA:85443 |
Senior-Boichis Syndrome |
|
Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:84081 |
Septo-Optic Dysplasia Spectrum |
|
Polydipsia |
ORPHA:3157 |
Sepsis In Premature Infants |
|
Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, Functional abnormali... |
ORPHA:90051 |
Toxic Epidermal Necrolysis |
|
Polydipsia, Conjunctivitis, Corneal erosion, Dysphagia |
ORPHA:537 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Abdominal distention, Thin corpus callosum, Hypoplasia of the corpus c... |
OMIM:618528 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Persistence of primary teeth, Microcephaly, Supernumerary tooth, Submu... |
OMIM:300166 |
Glucagonoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97280 |
X-Linked Dystonia-Parkinsonism |
|
Impaired oropharyngeal swallow response, Protruding tongue |
ORPHA:53351 |
Pediatric Systemic Lupus Erythematosus |
|
Abdominal pain, Abdominal distention, Diarrhea, Oral ulcer, Arthritis, Vomiting |
ORPHA:93552 |
Donohue Syndrome |
|
Wide mouth, Abdominal distention, Thick lower lip vermilion, Gingival overgrowth |
OMIM:246200 |
Gapo Syndrome |
|
Keratoconus |
ORPHA:2067 |
Meckel Syndrome |
|
Aplasia/Hypoplasia of the tongue, Micrognathia, Microcephaly, Anencephaly, Cleft palate, Furrowed... |
ORPHA:564 |
Neuroocular Syndrome |
|
Genu recurvatum, Microcephaly, Short uvula, Submucous cleft hard palate, Downturned corners of mo... |
OMIM:619539 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Microcephaly, Pyloric stenosis, Wide anterior fontanel, Hip dislocation, Joint subluxation, Small... |
ORPHA:90349 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Death in infancy, Intestinal malrotation, Hypoperistalsis, Abdominal distent... |
ORPHA:2241 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Microcephaly, Thin corpus callosum, Protruding tongue |
OMIM:619580 |
Meckel Syndrome 14 |
|
Microretrognathia, Micrognathia, Abdominal distention, Decreased calvarial ossification, Protuber... |
OMIM:619879 |
Congenital Sialidosis Type 2 |
|
Macrocephaly, Gingival overgrowth, Protruding tongue |
ORPHA:93400 |
Charcot-Marie-Tooth Disease Type 1F |
|
Tongue atrophy, Flexion contracture of finger, Optic nerve hypoplasia |
ORPHA:101085 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death, Abdominal distention, Microcolon |
OMIM:619362 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Micrognathia, Microcephaly, Submucous cleft hard palate, Cleft palate, Prominent occiput, Thick v... |
ORPHA:2636 |
Hypomagnesemia 3, Renal |
|
Polydipsia, Astigmatism |
OMIM:248250 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Septo-optic dysplasia, Cerebellar vermis hypopla... |
OMIM:619841 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Cerebellar vermis hypoplasia, Intestinal malrotation, Hamartoma of tongue, Brac... |
OMIM:263520 |
Gracile Bone Dysplasia |
|
Death in infancy, Ankyloglossia |
OMIM:602361 |
Mucoepithelial Dysplasia, Hereditary |
|
Melena, Erythematous oral mucosa, Chronic diarrhea, Furrowed tongue |
OMIM:158310 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Prominent metopic ri... |
ORPHA:2729 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polydipsia, Salt craving |
OMIM:612780 |
Charge Syndrome |
|
Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology, Feeding difficulties... |
ORPHA:138 |
Renal Hypoplasia |
|
Polydipsia |
ORPHA:93101 |
Senior-Loken Syndrome 1 |
|
Polydipsia |
OMIM:266900 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting |
ORPHA:35710 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Frontal bossing, Dandy-Walker malformation, Cleft upper lip, Micrognathia, Esophageal atresia, Ab... |
ORPHA:93271 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Abdominal distention, Cerebral white matter atrophy, Hypoperistalsis |
OMIM:619365 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Astigmatism |
OMIM:208050 |
Generalized Pustular Psoriasis |
|
Arthritis, Geographic tongue, Cheilitis |
ORPHA:247353 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Microcephaly, Cerebral atrophy, Feeding difficulties, Leukoencephalopathy, Periventricular white ... |
ORPHA:79282 |
Staphylococcal Necrotizing Pneumonia |
|
Addictive alcohol use, Confusion |
ORPHA:36238 |
Inflammatory Pseudotumor Of The Liver |
|
Abdominal distention, Vomiting, Nausea, Abdominal pain |
ORPHA:90003 |
Hyperparathyroidism, Neonatal Severe |
|
Polydipsia |
OMIM:239200 |
Helix Syndrome |
|
Polydipsia |
OMIM:617671 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Tongue atrophy, Flexion contracture of finger, Microcephaly, Abnormal cerebral white matter morph... |
ORPHA:466768 |
Juvenile Nephropathic Cystinosis |
|
Abnormal cornea morphology, Polydipsia, Corneal crystals |
ORPHA:411634 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Large posterior fontanelle, Feeding difficulties in infancy, Abdominal distention, Macroglossia, ... |
OMIM:218700 |
Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
Cystinosis, Nephropathic |
|
Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Dysphagia, Recurrent corneal ero... |
OMIM:219800 |
Williams Syndrome |
|
Micrognathia, Rectal prolapse, Gastroesophageal reflux, Microdontia, Spina bifida occulta, Abnorm... |
ORPHA:904 |
Stüve-Wiedemann Syndrome |
|
Camptodactyly of finger, Abnormality of the dentition, Feeding difficulties in infancy, Trismus, ... |
ORPHA:3206 |
Otopalatodigital Syndrome, Type Ii |
|
Frontal bossing, Congenital hip dislocation, Delayed closure of the anterior fontanelle, Microgna... |
OMIM:304120 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Keratoglobus |
ORPHA:3342 |
Gonadoblastoma |
|
Abdominal distention, Abdominal pain |
ORPHA:206484 |
Fraser Syndrome |
|
Death in infancy, Anal stenosis, Dental crowding, Cleft upper lip, Microcephaly, Dental malocclus... |
ORPHA:2052 |
Necrotizing Enterocolitis |
|
Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting |
ORPHA:391673 |
Degcags Syndrome |
|
Micrognathia, Oral-pharyngeal dysphagia, High palate, Gastroesophageal reflux, Agenesis of corpus... |
OMIM:619488 |
Panhypophysitis |
|
Polydipsia |
ORPHA:95513 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Anorexia, Abdominal pain, Abdominal distention, Recurrent infection of the gastrointestinal tract... |
ORPHA:51890 |
Cirrhosis, Familial |
|
Abdominal distention, Fulminant hepatitis, Esophageal varix |
OMIM:215600 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Natal tooth, Micrognathia, Carious teeth, Dolichocephal... |
OMIM:620186 |
Isolated Osteopoikilosis |
|
Addictive alcohol use |
ORPHA:166119 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Abdominal distention, Abnormal tongue morphology, Diarrhea, Thick vermilio... |
ORPHA:653 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors, Emotional labilit... |
ORPHA:293987 |
Alternating Hemiplegia Of Childhood |
|
Exaggerated cupid's bow, Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Gastrointesti... |
ORPHA:2131 |
Pachyonychia Congenita 3 |
|
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue |
OMIM:615726 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Brachycephaly, Downturned corners of mouth, Parietal bossing, Agenesis of corpus ca... |
OMIM:264090 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi... |
ORPHA:79276 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Thin upper lip vermilion, Abdominal pain, Microcephaly, High, narrow palate, Short uvula, Dolicho... |
OMIM:619475 |
Wolfram Syndrome |
|
Polydipsia, Dementia |
ORPHA:3463 |
Gitelman Syndrome |
|
Polydipsia, Salt craving |
OMIM:263800 |
Acute Lung Injury |
|
Addictive alcohol use |
ORPHA:178320 |
Ablepharon Macrostomia Syndrome |
|
Camptodactyly of finger, Hypoplasia of the maxilla, Wide mouth, Thin vermilion border, Hypoplasia... |
ORPHA:920 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Difficulty in tongue movements, Tongue atrophy |
ORPHA:99956 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention, Thin vermilion border, Genu varum |
OMIM:602557 |
Ovarian Fibrothecoma |
|
Abdominal distention, Peritonitis, Abdominal pain |
ORPHA:314478 |
Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Diarrh... |
ORPHA:275761 |
Microsporidiosis |
|
Sinusitis, Anorexia, Abdominal pain, Peritonitis, Chronic diarrhea, Vomiting, Intermittent diarrh... |
ORPHA:2552 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Abdominal distention, Dolichocephaly, Anal atresia |
OMIM:271520 |
Oligomeganephronia |
|
Polydipsia |
ORPHA:2260 |
Agel Amyloidosis |
|
Tongue atrophy, Xerostomia |
ORPHA:85448 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Abdominal distention, Chronic diarrhea, Vomiting, Gastroesophageal reflux |
OMIM:620233 |
Restrictive Dermopathy |
|
Natal tooth, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Temporomandibula... |
ORPHA:1662 |
Letterer-Siwe Disease |
|
Stomatitis, Abdominal distention |
OMIM:246400 |
Hereditary Fructose Intolerance |
|
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... |
ORPHA:469 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Cam... |
OMIM:601803 |
Herpes Simplex Virus Encephalitis |
|
Addictive alcohol use |
ORPHA:1930 |
Kawasaki Disease |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Cheilitis, Arthritis, Glossitis |
ORPHA:2331 |
Charcot-Marie-Tooth Disease Type 4C |
|
Difficulty in tongue movements, Tongue atrophy, Tongue fasciculations |
ORPHA:99949 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Colitis, Steatorrhea, Exocrine pancreatic insuffi... |
ORPHA:309031 |
Yunis-Varon Syndrome |
|
Cerebellar vermis hypoplasia, Congenital hip dislocation, Flat occiput, Micrognathia, Abnormal ca... |
OMIM:216340 |
Plague |
|
Chapped lip, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Abnormality of the elbow, Enterocol... |
ORPHA:707 |
Proximal Renal Tubular Acidosis |
|
Polydipsia, Cataract, Band keratopathy |
ORPHA:47159 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Erosion of oral mucosa, Anal fissure, Oral mucosal blisters, Carious teeth, Malnutrition, Dysphag... |
ORPHA:79408 |
Acute Promyelocytic Leukemia |
|
Addictive alcohol use, Anorexia |
ORPHA:520 |
Hutchinson-Gilford Progeria Syndrome |
|
Delayed eruption of teeth, Relative macrocephaly, Limitation of movement at ankles, Short lingual... |
ORPHA:740 |
Idiopathic Hypereosinophilic Syndrome |
|
Ankle swelling, Abdominal pain, Feeding difficulties in infancy, Malabsorption, Abdominal distent... |
ORPHA:3260 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Nausea |
ORPHA:100085 |
Polyembryoma |
|
Abdominal distention, Abdominal pain |
ORPHA:180229 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Microcornea, Keratoconus |
OMIM:225400 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormality of mouth shape, Increased head circumference, Abdominal di... |
ORPHA:3003 |
Cowden Syndrome |
|
Furrowed tongue, Hamartomatous polyposis, Macroglossia, Colorectal polyposis, High palate, Macroc... |
ORPHA:201 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Abdominal distention, Rectal atresia, Narrow mouth, Anal atresia |
OMIM:617666 |
Currarino Syndrome |
|
Anal stenosis, Perianal abscess, Gastrointestinal obstruction, Abdominal distention, Chronic cons... |
OMIM:176450 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Abdominal distention, Vomiting, Congenital pyloric atresia, Oral mucosal blisters |
ORPHA:158684 |
Wilson Disease |
|
Acute hepatic failure, Abdominal distention, Osteoarthritis, Esophageal varix, Vomiting, Dysphagi... |
OMIM:277900 |
Peripheral Primitive Neuroectodermal Tumor |
|
Nausea and vomiting, Abdominal distention, Anorexia, Episodic abdominal pain |
ORPHA:370348 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Exaggerated median tongue furrow, Cerebellar vermis hypoplasia, Intestinal... |
OMIM:312870 |
Fanconi-Bickel Syndrome |
|
Abdominal distention, Poor appetite, Malabsorption |
OMIM:227810 |
Erdheim-Chester Disease |
|
Polydipsia |
ORPHA:35687 |
Castleman Disease |
|
Nausea and vomiting, Abdominal distention, Intestinal obstruction, Abdominal pain |
ORPHA:160 |
Porphyria Cutanea Tarda |
|
Addictive alcohol use, Corneal scarring |
ORPHA:101330 |
Mirizzi Syndrome |
|
Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Vomiting, Nausea |
ORPHA:521219 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Brachycephaly, Duodenal stenosis, Macroglossia, Malar f... |
OMIM:190685 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Feeding difficulties in infancy, Abdominal distention, Punctate periventricular T2 hyperintense foci |
ORPHA:309256 |
Ovarian Hyperstimulation Syndrome |
|
Nausea and vomiting, Abdominal distention, Nausea, Abdominal pain |
ORPHA:64739 |
Ethylene Glycol Poisoning |
|
Addictive alcohol use, Confusion, Euphoria |
ORPHA:31826 |
Cirrhotic Cardiomyopathy |
|
Conjunctival icterus, Addictive alcohol use |
ORPHA:57777 |
Primary Biliary Cholangitis |
|
Celiac disease, Abdominal distention, Hepatic failure, Gastrointestinal inflammation |
ORPHA:186 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Polydipsia, Dysphagia |
ORPHA:99880 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention, Premature osteoarthritis, Genu varum |
ORPHA:93352 |
Parathyroid Carcinoma |
|
Polydipsia, Dysphagia |
ORPHA:143 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Reye syndrome-like episodes, Diarrhea, Abdominal distention, Diffuse leuko... |
OMIM:256810 |
Distal Renal Tubular Acidosis |
|
Polydipsia |
ORPHA:18 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Polydipsia |
ORPHA:93111 |
Pallister-Hall Syndrome |
|
Microretrognathia, Natal tooth, Abnormal basal ganglia MRI signal intensity, Accessory oral frenu... |
ORPHA:672 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Bloody diarrhea, Rectal abs... |
ORPHA:436252 |
Arima Syndrome |
|
Polydipsia |
OMIM:243910 |
Hereditary Spherocytosis |
|
Abdominal distention, Gout, Abdominal pain |
ORPHA:822 |
Ablepharon-Macrostomia Syndrome |
|
Anteriorly placed anus, Short upper lip, Wide mouth, Hypoplasia of the zygomatic bone, Aplastic z... |
OMIM:200110 |
Fanconi-Bickel Syndrome |
|
Abdominal distention, Hepatic failure |
ORPHA:2088 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abdominal distention, Punctate periventricular T2 hyperintense foci |
ORPHA:309263 |
Gitelman Syndrome |
|
Polydipsia, Salt craving |
ORPHA:358 |
Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia, Cognitive impairment |
ORPHA:731 |
Metachromatic Leukodystrophy, Adult Form |
|
Abdominal distention, Bowel incontinence, Punctate periventricular T2 hyperintense foci |
ORPHA:309271 |
Liver Disease, Severe Congenital |
|
Macrocephaly at birth, Chronic gastritis, Micrognathia, Abdominal distention, Diarrhea, Malnutrit... |
OMIM:619991 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Abdominal distention, Peritonitis, Microcolon, Ileal atresia |
OMIM:619351 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Polydipsia |
OMIM:602522 |
Pancreatoblastoma |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:677 |
X-Linked Acrogigantism |
|
Diastema, Abdominal distention |
ORPHA:300373 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Micrognathia, Supernumerary tooth, Gastroesophageal reflux, Vomiting, Ankyloglossia |
OMIM:619525 |
Gallbladder Neuroendocrine Tumor |
|
Abdominal distention, Nausea, Anorexia, Episodic abdominal pain |
ORPHA:100086 |
Leprechaunism |
|
Microcephaly, Abdominal distention, Rectal prolapse, Megarectum, Thick vermilion border |
ORPHA:508 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Secretory diarrhea |
OMIM:214700 |
Choreoacanthocytosis |
|
Caudate atrophy, Temporomandibular joint crepitus, Protruding tongue, Abnormal putamen morphology... |
ORPHA:2388 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anorexia, Oral mucosal blisters, Intestinal perforation, Oral-pharyngeal dysphagia, Diarrhea, Abd... |
ORPHA:95455 |
Craniofacial Microsomia 1 |
|
Block vertebrae, Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Cleft palate, Genu val... |
OMIM:164210 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Abdominal distention, Hepatic failure, Death in infancy |
OMIM:617156 |
Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Keratoconjunctivitis sicca, Depression |
ORPHA:285 |
Bartter Syndrome, Type 2, Antenatal |
|
Polydipsia |
OMIM:241200 |
Lymphatic Malformation 7 |
|
Abdominal distention |
OMIM:617300 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Frontal bossing, Abdominal distention, Esophageal varix, Frontotemporal cerebral atrophy, Knee di... |
OMIM:619534 |
Carney Complex |
|
Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Abnormal hard palate morpho... |
ORPHA:1359 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Abnormal pupil morphology, Cognitive impairment |
ORPHA:286 |
Kasabach-Merritt Syndrome |
|
Abdominal distention, Abdominal pain |
ORPHA:2330 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Keratoconus |
OMIM:130050 |
Atresia Of Urethra |
|
Abdominal distention |
ORPHA:105 |
Eisenmenger Syndrome |
|
Abdominal distention |
ORPHA:97214 |
Posterior Urethral Valve |
|
Retrognathia |
ORPHA:93110 |
Lower Urinary Tract Obstruction, Congenital |
|
|
OMIM:618612 |