Pierre Robin Syndrome |
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Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia |
OMIM:261800 |
Pierre Robin Syndrome And Oligodactyly |
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Pierre-Robin sequence, Cleft palate, Micrognathia |
OMIM:172880 |
Isolated Pierre Robin Syndrome |
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Glossoptosis, Cleft palate, Micrognathia |
ORPHA:718 |
Cleft Palate-Lateral Synechia Syndrome |
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Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia |
ORPHA:2016 |
Cleft Palate, Isolated |
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Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Auriculocondylar Syndrome 2A |
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Dental crowding, Micrognathia, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyl... |
OMIM:614669 |
Cleft Lip/Palate |
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Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
Catifa Syndrome |
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Delayed eruption of teeth, Cleft lip, Cleft palate, Mild microcephaly, Increased overbite, Long p... |
OMIM:618761 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
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Mandibular prognathia, Micrognathia, Microcephaly, Submucous cleft hard palate, Cleft palate, Ret... |
ORPHA:2521 |
Lowry-Maclean Syndrome |
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Delayed eruption of teeth, Intrauterine growth retardation, Cleft palate, Microcephaly |
OMIM:600252 |
Orofacial Cleft 13 |
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Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
Teebi Hypertelorism Syndrome 2 |
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Delayed eruption of teeth, Thin upper lip vermilion, Wide anterior fontanel, Cleft palate, Everte... |
OMIM:619736 |
Hamel Cerebro-Palato-Cardiac Syndrome |
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Death in infancy, Micrognathia, Microcephaly, Cleft palate, Narrow mouth, Malar flattening |
ORPHA:93946 |
Microphthalmia, Syndromic 8 |
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Mandibular prognathia, Cleft upper lip, Microcephaly, Cleft palate, Orofacial cleft, Widely-space... |
OMIM:601349 |
Microphthalmia, Syndromic 12 |
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Intestinal malrotation, Micrognathia, Cleft palate, Neonatal death, Retrognathia |
OMIM:615524 |
Cleft Velum |
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Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate, Oral-pharyngeal dysph... |
ORPHA:99772 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
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Natal tooth, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Auriculocondylar Syndrome 1 |
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Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... |
OMIM:602483 |
Orofaciodigital Syndrome Type 5 |
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Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Braddock-Carey Syndrome 2 |
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Microcephaly, Pierre-Robin sequence, Cleft palate, Wide mouth, Retrognathia |
OMIM:619981 |
Tetraploidy |
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Microcephaly, Micrognathia, Cleft palate, Short philtrum, Biparietal narrowing, Intrauterine grow... |
ORPHA:3305 |
Birk-Barel Syndrome |
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Microretrognathia, Tented upper lip vermilion, High palate, Short philtrum, Dysphagia, Submucous ... |
OMIM:612292 |
Van Der Woude Syndrome 2 |
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Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Auriculocondylar Syndrome |
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Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... |
ORPHA:137888 |
Cleft Palate, Deafness, And Oligodontia |
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No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Robinow Syndrome, Autosomal Dominant 2 |
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Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Micro... |
OMIM:616331 |
Orofaciodigital Syndrome Xix |
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Cleft soft palate, Accessory oral frenulum, Carious teeth, Retrognathia, Narrow palate, Downturne... |
OMIM:620107 |
Treacher Collins Syndrome 3 |
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Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate, Micrognathia |
OMIM:248390 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Acrocallosal Syndrome |
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Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... |
OMIM:200990 |
Robinow Syndrome, Autosomal Recessive 2 |
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Relative macrocephaly, Cleft soft palate, Abnormality of the dentition, Micrognathia, Gingival ov... |
OMIM:618529 |
Amish Lethal Microcephaly |
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Death in infancy, Microcephaly, Cleft soft palate, Micrognathia |
ORPHA:99742 |
Craniolenticulosutural Dysplasia |
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Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Wide anterior fontanel, Cleft... |
OMIM:607812 |
Chromosome 17Q12 Duplication Syndrome |
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Esophageal atresia, Cleft soft palate, Smooth philtrum, Micrognathia |
OMIM:614526 |
Multiple Epiphyseal Dysplasia, Lowry Type |
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Cleft hard palate, Micrognathia |
ORPHA:166016 |
Coffin-Siris Syndrome 11 |
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Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... |
OMIM:618779 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Micrognath... |
OMIM:608670 |
Microcephaly 30, Primary, Autosomal Recessive |
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Thin upper lip vermilion, Cleft soft palate, Pierre-Robin sequence, Primary microcephaly, Intraut... |
OMIM:620183 |
Cerebrocostomandibular Syndrome |
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Anal stenosis, Cleft soft palate, Micrognathia, Carious teeth, Cleft lip, Microcephaly, Pierre-Ro... |
OMIM:117650 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
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Cleft soft palate, Short philtrum, Primary microcephaly, Retrognathia, Smooth philtrum |
ORPHA:293725 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
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Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short phi... |
OMIM:619950 |
Orofaciodigital Syndrome Type 10 |
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Cleft soft palate, Accessory oral frenulum, Micrognathia, Long philtrum, Retrognathia |
ORPHA:2756 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
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Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi... |
ORPHA:1071 |
Orofaciodigital Syndrome Type 2 |
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Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... |
ORPHA:2751 |
Craniosynostosis 2 |
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Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
Cree Mental Retardation Syndrome |
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Cleft soft palate, Micrognathia |
OMIM:606851 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
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Cleft soft palate, Microcephaly, Micrognathia, Submucous cleft soft palate, Intrauterine growth r... |
ORPHA:2282 |
Loeys-Dietz Syndrome 5 |
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Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus... |
OMIM:615582 |
Cleft Soft Palate |
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Cleft soft palate |
OMIM:119570 |
Spondylometaphyseal Dysplasia, Schmidt Type |
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Cleft soft palate, Micrognathia |
ORPHA:93316 |
Bifid Uvula |
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Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Native American Myopathy |
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Micrognathia, Cleft palate, Downturned corners of mouth, High palate, Submucous cleft soft palate... |
ORPHA:168572 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Relative macrocephaly, Dental crowding, Impulsivity, Aggressive behavior, High, narrow palate, Ma... |
OMIM:300967 |
Treacher Collins Syndrome 1 |
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Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Nar... |
OMIM:154500 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
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Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa... |
OMIM:300990 |
Branchiooculofacial Syndrome |
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Abnormality of the dentition, Malrotation of colon, Cleft upper lip, Lower lip pit, Pyloric steno... |
OMIM:113620 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Cleft soft palate, Aggressive behavior, Microcephaly, Pyloric stenosis, Supernumerary tooth, Wide... |
ORPHA:268261 |
Saethre-Chotzen Syndrome |
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Hypoplasia of the maxilla, Cleft of chin, Cleft palate, Narrow palate, Malar flattening |
OMIM:101400 |
Limb-Mammary Syndrome |
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Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Malar flatte... |
ORPHA:69085 |
Diamond-Blackfan Anemia |
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Cleft soft palate, Micrognathia, Microcephaly, Cleft lip, High palate, Adenocarcinoma of the colon |
ORPHA:124 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Delayed eruption of teeth, Thin upper lip vermilion, Mandibular prognathia, Dental crowding, Clef... |
OMIM:619503 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Intestinal malrotation, Cleft soft palate, Microcephaly, Downturned corners of mouth, Intrauterin... |
OMIM:619321 |
Viss Syndrome |
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Microretrognathia, Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Subm... |
OMIM:619472 |
Hardikar Syndrome |
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Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilateral cleft lip ... |
OMIM:301068 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Delayed eruption of teeth, Mandibular prognathia, Aganglionic megacolon, Dental crowding, Abnorma... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
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Mandibular prognathia, Dental crowding, Cleft hard palate, Widely spaced teeth, Abnormal repetiti... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Mandibular prognathia, Dental crowding, Cleft hard palate, Short philtrum, Abnormal repetitive ma... |
ORPHA:261552 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
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Cleft soft palate |
OMIM:614557 |