Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency, Nasal regurgitation, Dysphagia, Ptosis |
OMIM:617732 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... |
OMIM:604229 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio |
OMIM:618880 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Intellectual Developmental Disorder, X-Linked 90 |
|
Upslanted palpebral fissure, High palate, Attention deficit hyperactivity disorder, Malar flatten... |
OMIM:300850 |
Pierre Robin Syndrome |
|
Micrognathia, Feeding difficulties in infancy, Pierre-Robin sequence, Cleft palate, Glossoptosis |
OMIM:261800 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Hypertelorism, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of... |
OMIM:614195 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Iris cyst, Optic atrophy |
OMIM:620086 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... |
OMIM:609049 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Congenital Velopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Abnormal palate morphology |
ORPHA:2291 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
Chromosome 22Q11.2 Duplication Syndrome |
|
Epicanthus, Micrognathia, Velopharyngeal insufficiency, High palate, Downslanted palpebral fissures |
OMIM:608363 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Proptosis, Microphthalm... |
OMIM:616171 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate, Micrognathia |
ORPHA:718 |
Kleeblattschaedel |
|
Proptosis, Recurrent corneal erosions |
OMIM:148800 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma |
OMIM:616428 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Adducted Thumbs Syndrome |
|
High, narrow palate, Velopharyngeal insufficiency, Cleft palate, High palate, Dysphagia |
OMIM:201550 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... |
ORPHA:263479 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia |
OMIM:311895 |
Intermediate Uveitis |
|
Anterior uveitis, Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floate... |
ORPHA:279914 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Cleft Velum |
|
Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici... |
ORPHA:99772 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum |
OMIM:618732 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypertelorism, Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the anterior cham... |
OMIM:602482 |
Idiopathic Panuveitis |
|
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... |
ORPHA:280921 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Bifid uvula, Cleft palate |
OMIM:258320 |
Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Bifid uvula |
OMIM:256200 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Angelman Syndrome Due To A Point Mutation |
|
Mandibular prognathia, Protruding tongue, Abnormal eating behavior, Tongue thrusting, Feeding dif... |
ORPHA:411511 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Uveitis, Microcor... |
OMIM:221900 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation |
ORPHA:3214 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Isolated Congenital Hypoglossia/Aglossia |
|
Micrognathia, Nasogastric tube feeding in infancy, Temporomandibular joint ankylosis, Cleft palat... |
ORPHA:141152 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypertelorism, Hypoplasia of the iris, Anterior synechiae... |
ORPHA:96125 |
Uveal Melanoma |
|
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... |
ORPHA:39044 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Phacoanaphylactic Uveitis |
|
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... |
ORPHA:209959 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Thin upper lip vermilion, Micrognathia, Celiac disease, Abnormality of the dentition, Feeding dif... |
ORPHA:576283 |
Birk-Barel Syndrome |
|
Microretrognathia, Tented upper lip vermilion, Highly arched eyebrow, Feeding difficulties in inf... |
OMIM:612292 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Bifid uvula |
ORPHA:2669 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Carey-Fineman-Ziter Syndrome 2 |
|
Thin upper lip vermilion, Dental crowding, Micrognathia, High, narrow palate, Velopharyngeal insu... |
OMIM:619941 |
Kleefstra Syndrome 2 |
|
Self-injurious behavior, Everted lower lip vermilion, Bifid uvula, Thick eyebrow |
OMIM:617768 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Mandibular prognathia, Protruding tongue, Tongue thrusting, Feeding difficulties, Wide mouth, Wid... |
ORPHA:98795 |
Neovascular Glaucoma |
|
Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v... |
ORPHA:94058 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... |
OMIM:612109 |
Spastic Paraplegia 81, Autosomal Recessive |
|
Bifid uvula, Cleft palate |
OMIM:618768 |
Arthrogryposis, Distal, Type 1C |
|
Pursed lips, Cleft lip, Cleft palate, Thin vermilion border, High palate, Narrow mouth, Blepharop... |
OMIM:619110 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Submucous cleft hard palate, Feeding difficulties, Wide mouth... |
OMIM:618106 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Thin vermilion border, Bifid uvula, Long philtrum |
OMIM:615942 |
Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Mandibular prognathia, Hyperactivity, Protruding tongue, Abnormal eating behavior, Tongue thrusti... |
ORPHA:98794 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Auriculocondylar Syndrome 3 |
|
Micrognathia, Glossoptosis, Retrognathia, Bifid uvula, Ectropion |
OMIM:615706 |
Cleft Palate-Lateral Synechia Syndrome |
|
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Blepharophimosis, Oral syn... |
ORPHA:2016 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Cleft palate, Non-midline cleft lip, Ankyloblepharon |
ORPHA:1074 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Aggressive b... |
OMIM:610253 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... |
ORPHA:370097 |
9q subtelomeric deletion syndrome |
|
Synophrys, Protruding tongue |
DECIPHER:52 |
Bencze Syndrome |
|
Upslanted palpebral fissure, Telecanthus, Submucous cleft hard palate, Open bite |
ORPHA:1241 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... |
OMIM:614669 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Bifid uvula, Cleft palate |
ORPHA:506353 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Mandibular prognathia, Epicanthus, Protruding tongue, Synophrys, Stereotypical hand wringing, Upp... |
OMIM:617804 |
Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Microretrognathia, Cleft palate |
OMIM:600331 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Micrognathia, Submucous cleft hard palate, Cleft palate, Retrognathia, Bif... |
ORPHA:2521 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Deeply set eye, Heterochromia iridis |
OMIM:143000 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Proptosis, Corneal opacity |
ORPHA:2370 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Feeding difficulties, Decreased intestinal t... |
OMIM:620045 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Flexion contracture, Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior syn... |
OMIM:613154 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Death in child... |
OMIM:612938 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Cataract, Proptosis |
ORPHA:85172 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation |
ORPHA:99000 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Ankyloblepharon, Cleft upper lip |
OMIM:106250 |
Zimmermann-Laband Syndrome 3 |
|
Synophrys, Thick lower lip vermilion, Gingival overgrowth, High palate, Long eyelashes, Bifid uvu... |
OMIM:618658 |
Dilution, Pigmentary |
|
Hypopigmentation of the fundus, Iris hypopigmentation |
OMIM:126070 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Abnormality of the dentition, Cleft palate, Micrognathia |
ORPHA:3104 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Telecanthus, Sparse eyebrow, Abnormal soft p... |
ORPHA:884 |
2Q24 Microdeletion Syndrome |
|
Cataract, Camptodactyly of finger, Hypertelorism, Abnormality iris morphology, Microphthalmia |
ORPHA:1617 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Retinal dystrophy, Congenital diaphragmatic hernia, Hypertelorism, Proptosis,... |
ORPHA:2143 |
Stickler Syndrome Type 1 |
|
Retinal detachment, Cataract, Proptosis, Abnormal vitreous humor morphology |
ORPHA:90653 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Skeletal muscle atrophy, Cataract, Optic atrophy, Proptosis, Joint contracture |
OMIM:617481 |
Angelman Syndrome |
|
Mandibular prognathia, Hyperactivity, Protruding tongue, Gastrostomy tube feeding in infancy, Agg... |
ORPHA:72 |
Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Charcot-Marie-Tooth Disease Type 1B |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Decreased nerve conduction velocity, Abnor... |
ORPHA:101082 |
Angelman Syndrome |
|
Mandibular prognathia, Hyperactivity, Protruding tongue, Hypoplasia of the maxilla, Feeding diffi... |
OMIM:105830 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate, Horizontal eyebrow, Feeding difficulties |
ORPHA:209908 |
Developmental And Epileptic Encephalopathy 31B |
|
Protruding tongue, Almond-shaped palpebral fissure, Gingival overgrowth, Feeding difficulties, Co... |
OMIM:620352 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Epicanthus, Sinusitis, Protruding tongue, Micrognathia, Malabsorption, Diarrhea, Macroglossia, Ma... |
OMIM:242860 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Protruding tongue, Prominent eyelashes, Gingival overgrowth, Feeding difficulties, Upslanted palp... |
OMIM:619179 |
Albinism, Oculocutaneous, Type Iv |
|
Macular hypoplasia, Blue irides, Hypopigmentation of the fundus |
OMIM:606574 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Microcornea, Iris coloboma, Chorioretinal coloboma |
OMIM:601706 |
Loose Anagen Syndrome |
|
Iris coloboma |
ORPHA:168 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Macrodontia, Protruding tongue, Diastema, Abnormal repetitive mannerisms, ... |
OMIM:212066 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Tietz Albinism-Deafness Syndrome |
|
Blue irides, Heterochromia iridis, Hypopigmentation of the fundus |
OMIM:103500 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:611638 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
Developmental And Epileptic Encephalopathy 80 |
|
Death in infancy, Tented upper lip vermilion, Protruding tongue, Micrognathia, Feeding difficulti... |
OMIM:618580 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Submucous cleft hard palate, Bifid uvula, Feeding difficulties |
OMIM:619239 |
Vitamin K Antagonist Embryofetopathy |
|
Cataract, Hypertelorism, Optic atrophy, Macroglossia, Proptosis, Aplasia/Hypoplasia affecting the... |
ORPHA:1914 |
Hartnup Disorder |
|
Hyperactivity, Glossitis, Attention deficit hyperactivity disorder |
OMIM:234500 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Everted upper lip vermilion, Hyperactivity, Abnormality of the dentition, ... |
OMIM:182290 |
Tonne-Kalscheuer Syndrome |
|
Micrognathia, Aggressive behavior, Velopharyngeal insufficiency, Dysphagia, Feeding difficulties,... |
OMIM:300978 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Sympathetic Ophthalmia |
|
Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... |
ORPHA:79098 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Coloboma |
OMIM:251505 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology, Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy,... |
OMIM:160565 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Microphthal... |
ORPHA:1473 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... |
ORPHA:2334 |
Catel-Manzke Syndrome |
|
Highly arched eyebrow, Micrognathia, Cleft palate, Glossoptosis, Malar flattening, Oral synechia |
ORPHA:1388 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
High palate, Median cleft lip, Downslanted palpebral fissures, Bifid uvula |
OMIM:155145 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... |
OMIM:200990 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Whistling Face Syndrome, Recessive Form |
|
Telecanthus, Epicanthus, Micrognathia, Trismus, Whistling appearance, Long philtrum, High palate,... |
OMIM:277720 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Downslanted palpebral fissures, Posteriorly placed tongue, Pierre-Ro... |
OMIM:192445 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Abnormal auditory evoked potentials, Hypertelorism, Proptosis, Absent extraocular... |
OMIM:109120 |
Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... |
ORPHA:98977 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Epicanthus, Highly arched eyebrow, Synophrys, Supernumerary tooth, Submucous cleft hard palate, T... |
OMIM:617412 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Feeding difficulties in infancy, Glossoptosis, Death in infancy |
OMIM:614876 |
Ring Chromosome 22 Syndrome |
|
Epicanthus, Protruding tongue, Inappropriate behavior, Thick vermilion border, Thick eyebrow |
ORPHA:1446 |
Deafness, Autosomal Recessive 108 |
|
Iris coloboma |
OMIM:617654 |
Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Epicanthus, Highly arched eyebrow, Micrognathia, Protruding tongue, Syn... |
OMIM:617062 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... |
ORPHA:67042 |
Crouzon Syndrome |
|
Hypertelorism, Optic atrophy, Proptosis, Conjunctivitis, Iris coloboma |
ORPHA:207 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex, Microcornea, Iris coloboma |
OMIM:615147 |
Pitt-Hopkins-Like Syndrome 2 |
|
Protruding tongue, Feeding difficulties, Wide mouth, Gastroesophageal reflux, Constipation |
OMIM:614325 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Micrognathia, Cleft upper lip, Feeding difficulties in infancy, Lower eyel... |
OMIM:608572 |
Stickler Syndrome, Type Ii |
|
Micrognathia, High, narrow palate, Pierre-Robin sequence, Cleft palate, Malar flattening, Bifid u... |
OMIM:604841 |
X-Linked Dystonia-Parkinsonism |
|
Blepharospasm, Impaired oropharyngeal swallow response, Protruding tongue |
ORPHA:53351 |
Schilbach-Rott Syndrome |
|
Epicanthus, Micrognathia, Submucous cleft hard palate, Upslanted palpebral fissure, Attention def... |
OMIM:164220 |
Down Syndrome |
|
Epicanthus, Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower l... |
ORPHA:870 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Intestinal malrotation, Highly arched eyebrow, Micrognathia, Bilateral ... |
ORPHA:404440 |
Ritscher-Schinzel Syndrome 2 |
|
Intestinal malrotation, Protruding tongue, Wide anterior fontanel, Upslanted palpebral fissure, H... |
OMIM:300963 |
Temple Syndrome |
|
Feeding difficulties in infancy, Feeding difficulties, Polyphagia, Bifid uvula, Nasogastric tube ... |
ORPHA:254516 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Hyperactivity, Cleft lip, Narrow mouth, Cleft palate, Downturned corners of mouth, Long eyelashes... |
OMIM:618089 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... |
ORPHA:137888 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... |
ORPHA:67043 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Feeding difficulties in infancy, Esophageal atresia, Downturned corners of mou... |
OMIM:618779 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Protruding tongue, Gingival overgrowth, Wide mouth, Horizontal eyebrow, Thick eyebrow, Gastrostom... |
OMIM:618797 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Bilateral ptosis, Cleft palate, High palate, Compulsive behaviors, Attention deficit hyperactivit... |
OMIM:620021 |
Orofaciodigital Syndrome Xix |
|
Epicanthus, Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Tongue nodu... |
OMIM:620107 |
Buratti-Harel Syndrome |
|
Epicanthus, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Gastroesophag... |
OMIM:619314 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Iris coloboma, Chorioretinal coloboma |
OMIM:613702 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Horner syndrome, Blepharophimosis... |
OMIM:141300 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations, Dysphagia |
OMIM:613435 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Cleft palate, Glossoptosis, Long philtrum, Malar flattening |
ORPHA:166100 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Absent uvula, Micrognathia |
OMIM:616531 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract, Abnormal retinal morphology |
ORPHA:170 |
Cherubism |
|
Proptosis, Optic atrophy |
ORPHA:184 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Death in infancy, Highly arched eyebrow, Micrognathia, Protru... |
OMIM:259775 |
Pai Syndrome |
|
Telecanthus, Median cleft lip, Cleft palate, Abnormal oral frenulum morphology, Downslanted palpe... |
ORPHA:1993 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... |
ORPHA:2919 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Aggressive behavior, Cleft upper lip, Cleft palate, Bifid uvula |
OMIM:300958 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Epicanthus, Micrognathia, Protruding tongue, Wide anterior fontanel, High, narrow palate, Feeding... |
OMIM:214100 |
Icf Syndrome |
|
Epicanthus, Malabsorption, Protruding tongue, Micrognathia, Macroglossia |
ORPHA:2268 |
Trehalase Deficiency |
|
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Epicanthus, Protruding tongue, Absent frontal sinuses, Diastema, Abnormal ... |
OMIM:301040 |
Myopathy, Centronuclear, 5 |
|
Micrognathia, High palate, Narrow mouth, Retrognathia, Bifid uvula |
OMIM:615959 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Mandibular prognathia, Smooth philtrum, Epicanthus, Tented upper lip vermilion, Thin upper lip ve... |
OMIM:618622 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Orofaciodigital Syndrome V |
|
Unilateral ptosis, Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma o... |
OMIM:174300 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Wide anterior fontanel, Upper eyelid colobom... |
OMIM:619736 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Tongue atrophy, Dysphagia |
ORPHA:496689 |
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula... |
ORPHA:54 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Impulsivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Attention deficit hyperact... |
OMIM:619580 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Palpebral edema, Iris coloboma, Ectopia lentis |
ORPHA:1259 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Smooth philtrum, Death in infancy, Protruding tongue, Micrognathia, Feeding difficulties, Upslant... |
OMIM:608779 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy, Impulsivity, Compulsive behaviors, Dysphagia, Violent behavior |
ORPHA:216873 |
Hereditary Angioedema Type 1 |
|
Tongue edema, Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiti... |
ORPHA:100050 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Proptosis, Corneal opacity, Hypertelorism |
OMIM:618961 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Chromosome 11P13 Deletion Syndrome, Distal |
|
Aniridia |
OMIM:616902 |
Juvenile Sialidosis Type 2 |
|
Gingival overgrowth, Dysphagia, Protruding tongue |
ORPHA:93399 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Proptosis, Corneal opacity, Congenital diaphragmatic hernia |
OMIM:166300 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Volvulus Of Midgut |
|
Telecanthus, Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Const... |
OMIM:193250 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Epicanthus, Micrognathia, Sparse eyebrow, Cleft palate, Feeding difficulties, Downslanted palpebr... |
OMIM:606164 |
Trisomy 12P |
|
Aplasia/Hypoplasia of the iris, Proptosis, Aplasia/Hypoplasia affecting the eye, Hypertelorism |
ORPHA:1699 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Epicanthus, Hyperactivity, Aggressive behavior, Feeding difficulties in infanc... |
OMIM:123450 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Cataract, Retinal dystrophy, Congenital diaphragmatic hernia, Hypertelorism, ... |
OMIM:222448 |
WAGR 11p13 deletion syndrome |
|
Aniridia |
DECIPHER:35 |
Wyburn-Mason Syndrome |
|
Proptosis, Retinal vascular malformation, Iris hypopigmentation |
ORPHA:53719 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Protruding tongue, Micrognathia, Synophrys, Gingival overgrowth, Chro... |
OMIM:619777 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea |
OMIM:251750 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior... |
OMIM:602499 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Poor appetite, Abdominal pain, Geophagia, Intra-oral hyperpigmentation, Cheilitis... |
ORPHA:54028 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Everted lower lip vermilion, Smooth philtrum, Protruding tongue |
ORPHA:324410 |
Zimmermann-Laband Syndrome |
|
Telecanthus, Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft palate, Anterior ope... |
ORPHA:3473 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Epicanthus, Micrognathia, Pierre-Robin sequence, Feeding difficulties, ... |
OMIM:613604 |
Beaulieu-Boycott-Innes Syndrome |
|
Micrognathia, Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, Upslanted palpebr... |
OMIM:613680 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Thin upper lip vermilion, Highly arched eyebrow, Aggressive behavior, Downturned corners of mouth... |
OMIM:619121 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Gm1-Gangliosidosis, Type Ii |
|
Narrow mouth, Gingival overgrowth, Dysphagia, Protruding tongue |
OMIM:230600 |
Marshall-Smith Syndrome |
|
Open mouth, Retrognathia, Gingival overgrowth, Protruding tongue |
ORPHA:561 |
Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:601492 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Esophageal atresia, Downslanted palpebral fissures, Smooth philtrum |
OMIM:614526 |
Wagr Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract |
ORPHA:893 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Limb-Mammary Syndrome |
|
Hypodontia, Lacrimal duct atresia, Bifid uvula, Cleft palate |
OMIM:603543 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Micrognathia, High, narrow palate, Temporomandibular joint ankylosis, Downslanted palpebral fissu... |
ORPHA:2872 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Dental crowding, Aggressive behavior, Narrow palate, Feeding di... |
ORPHA:313892 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
Joubert Syndrome 1 |
|
Epicanthus, Hyperactivity, Highly arched eyebrow, Protruding tongue, Aggressive behavior, Macrogl... |
OMIM:213300 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Highly arched eyebrow, Protruding tongue, Synophrys, Feeding difficulties, Downturned corners of ... |
ORPHA:96147 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Smooth philtrum, Thin upper lip vermilion, Intestinal malrotation, Highly arched eyebrow, Bilater... |
OMIM:614701 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Feeding difficulties, Upslanted palpebral fissure, Lobulated tongue, Do... |
OMIM:613443 |
Pontocerebellar Hypoplasia Type 10 |
|
Proptosis, Optic atrophy |
ORPHA:411493 |
Hec Syndrome |
|
Abnormal retinal vascular morphology, Abnormal pupil morphology, Polyhydramnios, Developmental ca... |
ORPHA:2119 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Aniridia |
ORPHA:1065 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Moebius Syndrome |
|
Epicanthus, Micrognathia, Abnormality of the dentition, Feeding difficulties in infancy, Congenit... |
OMIM:157900 |
Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... |
ORPHA:530 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, M... |
ORPHA:290 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Upslanted palpebral fissure, Cleft hard palate, Micrognathia |
ORPHA:166016 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Retinal coloboma, Iris coloboma, Chorioretinal coloboma |
ORPHA:2921 |
Juvenile Xanthogranuloma |
|
Iritis, Proptosis, Uveitis, Asymmetry of iris pigmentation |
ORPHA:158000 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Almond-shaped palpebral fissure, Epiblepharon, Abnormal repetitive manneri... |
OMIM:619103 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, Pyloric stenosis, Cleft palate, Feeding difficulties, High palate, Short philtrum, ... |
ORPHA:96184 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Palpebral edema, Severe periodontitis, Protruding tongue, Deep philtrum, C... |
ORPHA:99843 |
Mesomelia-Synostoses Syndrome |
|
Abnormal eyebrow morphology, Telecanthus, Micrognathia, Aplasia/Hypoplasia of the uvula, High, na... |
ORPHA:2496 |
Hypoglossia With Situs Inversus |
|
Micrognathia, Feeding difficulties in infancy, Malnutrition, High palate, Hypodontia, Narrow mout... |
OMIM:612776 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Hypertelorism, Microcornea, Microphthalmia, O... |
OMIM:615145 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Epicanthus, Cleft soft palate, Pierre-Robin sequence, Long palpebral fi... |
OMIM:620183 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Proptosis, Hypertelorism |
ORPHA:35099 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... |
ORPHA:103907 |
Distal Deletion 17Q |
|
Upslanted palpebral fissure, Abnormality of the philtrum, Aplasia/Hypoplasia of the uvula, Narrow... |
ORPHA:1597 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy, Ptosis |
OMIM:254300 |
Axenfeld-Rieger Syndrome |
|
Aplasia/Hypoplasia of the iris, Posterior embryotoxon, Abnormal anterior chamber morphology, Hype... |
ORPHA:782 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Aniridia, Developmental glaucoma |
OMIM:206750 |
Mandibulofacial Dysostosis With Alopecia |
|
Sparse eyelashes, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of... |
OMIM:616367 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Cleft palate, Upslanted palpebral fissure, Na... |
ORPHA:1790 |
Rapp-Hodgkin Syndrome |
|
Absent lacrimal punctum, Sparse eyelashes, Conical tooth, Sparse eyebrow, Hypoplasia of the maxil... |
OMIM:129400 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue, Ptosis |
ORPHA:2743 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Iris coloboma |
ORPHA:139450 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Micrognathia, Feeding difficulties in infancy, Furrowed tongue, High palate, Short philtrum, Ever... |
ORPHA:1387 |
Tetralogy Of Fallot |
|
Proptosis |
OMIM:187500 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Congenital Disorder Of Glycosylation, Type Id |
|
Epicanthus, Villous atrophy, Diarrhea, Vomiting, High palate, Bifid uvula |
OMIM:601110 |
Temple Syndrome |
|
Micrognathia, Cleft palate, Feeding difficulties, Short philtrum, High palate, Bifid uvula |
OMIM:616222 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Micrognathia, Narrow mouth, Dental malocclusion, Cleft palate, Anterior open-bit... |
OMIM:602483 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Tongue atrophy, Dysphagia |
OMIM:158900 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Submucous cleft hard palate, Abnormal mandible morphology, Glossoptosis, Hyp... |
ORPHA:3201 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
Unilateral Ocular Duplication |
|
Polyhydramnios, Hypertelorism, Abnormal pupil morphology, Microcornea, Iris coloboma |
ORPHA:3374 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Mandibular prognathia, Epicanthus, Telecanthus, Hyperactivity, Abnormality of the dentition, Wide... |
OMIM:618505 |
W Syndrome |
|
Telecanthus, Submucous cleft hard palate, Agenesis of maxillary central incisor, Broad uvula, Dow... |
ORPHA:2804 |
Athyreosis |
|
Macroglossia, Constipation, Abdominal distention, Feeding difficulties |
ORPHA:95713 |
Arthrogryposis, Distal, Type 3 |
|
Epicanthus, Micrognathia, Submucous cleft hard palate, Cleft palate, High palate, Bifid uvula, Pt... |
OMIM:114300 |
Alg3-Cdg |
|
Feeding difficulties, Macroglossia, High palate, Decreased liver function, Abnormal uvula morphology |
ORPHA:79321 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
D-Lactic Aciduria With Gout |
|
Aniridia |
OMIM:245450 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Calf muscle pseudohypertrophy, Cataract, Hypoglycosylation of alpha-dystrogly... |
ORPHA:370959 |
Meckel Syndrome, Type 10 |
|
Epicanthus, Cleft palate, Narrow palpebral fissure, Bifid uvula, Ptosis |
OMIM:614175 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Pierre-Robin sequence, Cleft palate, Feeding difficulties, Glossoptosis, Retrognathia |
OMIM:620269 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Highly arched eyebrow, Abnormality of the dentition, Feeding difficulties, Upslanted palpebral fi... |
OMIM:615802 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Telecanthus, Protruding tongue, Micrognathia, Protuberant abdomen, Long philtrum, Ma... |
ORPHA:50945 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Micrognathia, Abnormality of the de... |
OMIM:616331 |
8Q22.1 Microdeletion Syndrome |
|
Telecanthus, Sparse eyelashes, Highly arched eyebrow, Abnormality of the dentition, Sparse eyebro... |
ORPHA:178303 |
Cinca Syndrome |
|
Papilledema, Proptosis, Uveitis, Lymphedema |
OMIM:607115 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, ... |
ORPHA:790 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Epicanthus, Aggressive behavior, Submucous cleft hard palate, Upslanted... |
OMIM:619680 |
Frontofacionasal Dysplasia |
|
Telecanthus, Cleft upper lip, Ankyloblepharon, Orofacial cleft, Eyelid coloboma, S-shaped palpebr... |
OMIM:229400 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Poor appetite, Abnormal eyelid morphology, Chronic diarrhea, Macrogl... |
ORPHA:2221 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Papilledema, ... |
ORPHA:91500 |
Congenital Primary Aphakia |
|
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... |
ORPHA:83461 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Aggressive behavior, Micrognathia, Cleft palate, Feeding difficulties, Glossoptosis |
OMIM:618356 |
Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Micrognathia, Cleft palate, Neonatal death, Retrognathia |
OMIM:615524 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Highly arched eyebrow, Abnormality of the dent... |
ORPHA:2712 |
Neuhauser Syndrome |
|
Epicanthus, Micrognathia, Dysphagia, High palate, Long philtrum, Downslanted palpebral fissures, ... |
OMIM:249310 |
Qazi-Markouizos Syndrome |
|
High, narrow palate, Abdominal distention, Hypoplasia of teeth, Chronic constipation, Open mouth,... |
ORPHA:3010 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Dental malocclusion, High palate, Hypodontia, Downslanted palpebral fi... |
OMIM:612350 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Broad jaw, Hooded eyelid, Dental crowding, Micrognathia, Submucous cle... |
ORPHA:96170 |
Gms Syndrome |
|
Rieger anomaly |
ORPHA:2090 |
Thyroid Hemiagenesis |
|
Macroglossia, Constipation, Abdominal distention |
ORPHA:95719 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Micrognathia, Abnormality of the dentition, Gingival overgrowth, Long eyelashe... |
OMIM:618529 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased size of the mandible, Intestinal pseudo-obstruction, Intestinal malrotation, Feeding di... |
OMIM:300048 |
Hydrolethalus |
|
Micrognathia, Submucous cleft hard palate, Cleft palate, Gingival cleft, Unilateral cleft lip, Re... |
ORPHA:2189 |
Developmental And Epileptic Encephalopathy 48 |
|
Rod-cone dystrophy, Proptosis, Optic disc pallor, Limb hypertonia |
OMIM:617276 |
Diamond-Blackfan Anemia 6 |
|
Cleft upper lip, Micrognathia, Cleft palate, Retrognathia, Bifid uvula |
OMIM:612561 |
White-Sutton Syndrome |
|
Mandibular prognathia, Micrognathia, Downturned corners of mouth, High palate, Short philtrum, Ga... |
OMIM:616364 |
Amish Lethal Microcephaly |
|
Death in infancy, Feeding difficulties, Cleft soft palate, Micrognathia |
ORPHA:99742 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors, High palate, ... |
OMIM:309580 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of the temporomandibular joint, Protruding tongue, Macroglossia, Gastroesophageal ref... |
ORPHA:258 |
Crouzon Syndrome |
|
Hypertelorism, Keratitis, Optic atrophy, Proptosis, Conjunctivitis, Shallow orbits |
OMIM:123500 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Anorexia, Malabsorption, Abdominal pain, Diarrhea, Hypogeusia, Furrowed ton... |
ORPHA:2930 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology, Aganglionic megacolon |
ORPHA:2151 |
Solar Urticaria |
|
Abnormal lip morphology, Abnormal tongue morphology, Nausea |
ORPHA:97230 |
Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia |
OMIM:616540 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, High, narrow palate, Synophrys, Anteriorly placed anus, Olig... |
OMIM:612289 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
Faciocardiomelic Dysplasia, Lethal |
|
Micrognathia, Narrow mouth, Neonatal death, Microglossia, Retrognathia |
OMIM:227270 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Short stature, Iris coloboma |
OMIM:610023 |
Houge-Janssens Syndrome 3 |
|
Megalocornea, Proptosis, Hypertelorism |
OMIM:618354 |
Trisomy 13 |
|
Cataract, Anophthalmia, Abnormal retinal vascular morphology, Optic atrophy, Hydrops fetalis, Hyp... |
ORPHA:3378 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Achondrogenesis, Type Ia |
|
Stillbirth, Protuberant abdomen, Protruding tongue |
OMIM:200600 |
Intellectual Developmental Disorder, Autosomal Recessive 67 |
|
Coloboma, Short stature |
OMIM:618295 |
Woolly Hair Nevus |
|
Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
Tetralogy Of Fallot |
|
Proptosis |
ORPHA:3303 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Smooth philtrum, Epicanthus, Abnormality of the dentition, Carious teeth, Velopharyngeal insuffic... |
ORPHA:363444 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Ptosis, Epicanthus, Telecanthus, Hyperactivity, Micrognathia, Carious ... |
OMIM:223370 |
Multiple Synostoses Syndrome 3 |
|
Proptosis |
OMIM:612961 |
Cree Mental Retardation Syndrome |
|
Micrognathia, Downslanted palpebral fissures, Cleft soft palate, Ptosis |
OMIM:606851 |
Velocardiofacial Syndrome |
|
Aggressive behavior, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequ... |
OMIM:192430 |
Congenital Sialidosis Type 2 |
|
Gingival overgrowth, Protruding tongue |
ORPHA:93400 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Wide anterior fontanel, Cleft... |
OMIM:607812 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Proptosis |
OMIM:608716 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Leukocoria |
OMIM:219250 |
Chromosome 5P13 Duplication Syndrome |
|
Hypertelorism, Astigmatism, Proptosis, Hypotelorism |
OMIM:613174 |
Waardenburg Syndrome, Type 2A |
|
Hypoplastic iris stroma, Heterochromia iridis |
OMIM:193510 |
Orofaciodigital Syndrome Iv |
|
Epicanthus, Hamartoma of tongue, Micrognathia, Accessory oral frenulum, Cleft palate, Lobulated t... |
OMIM:258860 |
Native American Myopathy |
|
Micrognathia, Bilateral ptosis, Cleft palate, Feeding difficulties, Downturned corners of mouth, ... |
ORPHA:168572 |
Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Hypertelorism, Abnormal pupil morphology, Hypoplasia of t... |
ORPHA:3163 |
Sweeney-Cox Syndrome |
|
Micrognathia, Wide anterior fontanel, Velopharyngeal insufficiency, Upper eyelid coloboma, High p... |
OMIM:617746 |
Kniest Dysplasia |
|
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Rhegmatogenous retinal detachment, ... |
ORPHA:485 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Upslanted palpebral fissure, Short philtrum... |
ORPHA:3241 |
1Q41Q42 Microdeletion Syndrome |
|
Deeply set eye, Abnormality iris morphology, Congenital diaphragmatic hernia, Hypotelorism |
ORPHA:250999 |
Neu-Laxova Syndrome 2 |
|
Cataract, Polyhydramnios, Edema, Hypertelorism, Proptosis |
OMIM:616038 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Absent lacrimal punctum, Sparse eyelashes, Abnormal dental enamel morp... |
ORPHA:1071 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Epicanthus, Micrognathia, High, narrow palate, Submucous cleft hard pa... |
ORPHA:2780 |
Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... |
ORPHA:137599 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Congenital Pancreatic Cyst |
|
Abdominal distention, Vomiting, Anorexia, Abdominal pain |
ORPHA:313906 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short phi... |
OMIM:619950 |
Pontocerebellar Hypoplasia, Type 3 |
|
Optic disc pallor, Proptosis, Optic atrophy |
OMIM:608027 |
Treacher Collins Syndrome 3 |
|
Micrognathia, Lower eyelid coloboma, Cleft palate, Hypoplasia of the zygomatic bone, Malar flatte... |
OMIM:248390 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Lacrimal duct stenosis, Cleft soft palate, Micrognathia, Lower eyelid col... |
OMIM:154500 |
Moebius Syndrome |
|
Death in infancy, Epicanthus, Aplasia/Hypoplasia of the tongue, Micrognathia, Feeding difficultie... |
ORPHA:570 |
Hypoglossia-Hypodactyly Syndrome |
|
Death in infancy, Telecanthus, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, F... |
ORPHA:989 |
Bilateral Perisylvian Polymicrogyria |
|
Protruding tongue, Micrognathia, Feeding difficulties, Pseudobulbar paralysis, Gastroesophageal r... |
ORPHA:98889 |
Periventricular Nodular Heterotopia 7 |
|
Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow con... |
OMIM:617201 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Proptosis |
OMIM:618492 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Aggressive behavior, Wide anterior fontanel, Pyloric stenosis, Submucou... |
ORPHA:457279 |
Marshall Syndrome |
|
Retinal detachment, Cataract, Hypertelorism, Ectopia lentis, Abnormal vitreous humor morphology, ... |
ORPHA:560 |
Kniest Dysplasia |
|
Hip contracture, Retinal detachment, Cataract, Proptosis |
OMIM:156550 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate, Micrognathia, Nasogastric tube feeding in infancy, Gastroesophageal reflux, Po... |
ORPHA:93316 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... |
ORPHA:1201 |
Acrodermatitis Enteropathica |
|
Glossitis, Abnormal eyebrow morphology, Anorexia, Abnormal eyelid morphology, Malabsorption, Poor... |
ORPHA:37 |
Autosomal Recessive Centronuclear Myopathy |
|
Retrognathia, High palate, Bifid uvula, Narrow mouth |
ORPHA:169186 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Medial flaring of the eyebrow, Smooth philtrum, Thin upper lip vermilion, Sparse eyelashes, Hoode... |
OMIM:612863 |
Hypophosphatasia, Childhood |
|
Myopathy, Proptosis |
OMIM:241510 |
Immunodeficiency 10 |
|
Hypoplasia of the iris, Myopathy |
OMIM:612783 |
Spinocerebellar Ataxia Type 36 |
|
Tongue atrophy, Bowel incontinence, Tongue fasciculations, Attention deficit hyperactivity disord... |
ORPHA:276198 |
Gillespie Syndrome |
|
Hypoplasia of the iris, Aniridia |
OMIM:206700 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... |
OMIM:300602 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Smooth philtrum, Exaggerated median tongue furrow, Telecanthus, Tented upper lip vermilion, Exagg... |
OMIM:608670 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Highly arched eyebrow, Micrognathia, Lagophthalmos, Cleft palate, Furrowed tongue... |
OMIM:615065 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... |
OMIM:619445 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Trismus, Submucous cleft hard palate, Branchial fistula |
OMIM:609166 |
Otospondylomegaepiphyseal Dysplasia |
|
Retinal detachment, Cataract, Polyhydramnios, Proptosis, Degenerative vitreoretinopathy |
ORPHA:1427 |
Isolated Split Hand-Split Foot Malformation |
|
Aniridia |
ORPHA:2440 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Nasogastric tube feeding in infancy, Gastrointestinal dysmotility, Bruxism, Cleft palate, Furrowe... |
ORPHA:453499 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Epicanthus, Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Unilateral cleft palate |
OMIM:619122 |
Coloboma Of Macula With Type B Brachydactyly |
|
Coloboma |
OMIM:120400 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
Prader-Willi Syndrome Due To Translocation |
|
Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Downturned co... |
ORPHA:177907 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Mandibular prognathia, Epicanthus, Tented upper lip vermilion, Aganglionic megacolon, Highly arch... |
ORPHA:247262 |
Optic Pathway Glioma |
|
Papilledema, Proptosis, Optic atrophy, Neurofibroma |
ORPHA:2086 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Telecanthus, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveola... |
ORPHA:2751 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Coloboma |
OMIM:613703 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Hypoplasia of the iris, Deeply set eye, Chorioretinal coloboma |
ORPHA:1422 |
Au-Kline Syndrome |
|
Lagophthalmos, Dental malocclusion, Bifid tongue, Cleft palate, Feeding difficulties, Downturned ... |
OMIM:616580 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Telecanthus, Sparse eyelashes, Micrognathia, Sp... |
OMIM:209885 |
Congenital Microcoria |
|
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... |
ORPHA:566 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit, Ankyloblepharon |
ORPHA:1072 |
Spinocerebellar Ataxia 36 |
|
Tongue atrophy, Tongue fasciculations, Dysphagia, Ptosis |
OMIM:614153 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hypertelorism, Congenital contracture, Proptosis, Joint contracture of the 5th finger, Arthrogryp... |
ORPHA:352490 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti... |
OMIM:613662 |
Abruzzo-Erickson Syndrome |
|
Coloboma, Short stature |
OMIM:302905 |
Lethal Osteosclerotic Bone Dysplasia |
|
Proptosis |
ORPHA:1832 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Orofaciodigital Syndrome Type 10 |
|
Telecanthus, Cleft soft palate, Accessory oral frenulum, Micrognathia, Long philtrum, Retrognathia |
ORPHA:2756 |
Sialuria |
|
Thin upper lip vermilion, Epicanthus, Synophrys, Macroglossia, High palate, Protuberant abdomen, ... |
OMIM:269921 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Submucous cleft hard... |
ORPHA:2588 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Degcags Syndrome |
|
Micrognathia, Oral-pharyngeal dysphagia, Synophrys, High palate, Gastroesophageal reflux, Hiatus ... |
OMIM:619488 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Micrognathia, Bilateral cleft lip and palate, Upslanted palpebral fissure... |
ORPHA:2001 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Bifid u... |
ORPHA:2752 |
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Flexion contracture, Proptosis, Optic atrophy |
OMIM:618346 |
Trisomy 8Q |
|
Micrognathia, Non-midline cleft lip, Cleft palate, Orofacial cleft, Upslanted palpebral fissure, ... |
ORPHA:1752 |
Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Midline notch of upper alveolar ridge |
OMIM:617127 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Lacrimal duct stenosis, Intestinal malrotation, Cleft palate, ... |
OMIM:113650 |
Carey-Fineman-Ziter Syndrome |
|
Epicanthus, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Cleft palate, ... |
ORPHA:1358 |
Hypoglossia-Hypodactylia |
|
Epicanthus, Micrognathia, Aglossia, Narrow mouth, Microglossia, Retrognathia |
OMIM:103300 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Chronic constipation, High palate, Retrognathia, Downslanted palpebral fissures, Bifid uvula |
OMIM:300472 |
Loeys-Dietz Syndrome 4 |
|
Eosinophilic infiltration of the esophagus, High, narrow palate, High palate, Broad uvula, Retrog... |
OMIM:614816 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening |
OMIM:241310 |
Mohr Syndrome |
|
Telecanthus, Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, ... |
OMIM:252100 |
Cerebrocostomandibular Syndrome |
|
Epicanthus, Anal stenosis, Cleft soft palate, Micrognathia, Carious teeth, Cleft lip, Short hard ... |
OMIM:117650 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy |
OMIM:616155 |
Agnathia-Otocephaly Complex |
|
Micrognathia, Aglossia, Cleft palate, Narrow mouth, Mandibular aplasia, Microglossia, Downslanted... |
OMIM:202650 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Small intestinal dysmotility, Poor appetite, Abdominal pain, Atrophic muscularis propria, Abdomin... |
ORPHA:298 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematoche... |
OMIM:175500 |
Carey-Fineman-Ziter Syndrome 1 |
|
Epicanthus, Micrognathia, Lagophthalmos, Trismus, Pierre-Robin sequence, Bowel irritability, Clef... |
OMIM:254940 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Ankyloglossia |
OMIM:618021 |
Lelis Syndrome |
|
Mandibular prognathia, Carious teeth, Absent lower eyelashes, Furrowed tongue, Upslanted palpebra... |
ORPHA:140936 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
Meckel Syndrome, Type 8 |
|
Abdominal distention, Cleft palate, Cleft upper lip |
OMIM:613885 |
Developmental And Epileptic Encephalopathy 75 |
|
Optic disc pallor, Proptosis, Optic atrophy, Hypertelorism |
OMIM:618437 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Posterior subcapsular cataract, Astigmatism, Proptosis, Bilateral camptodactyly |
OMIM:619234 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Cleft soft palate, Short philtrum, Blepharophimosis, Retrognathia, Smooth philtrum |
ORPHA:293725 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Epicanthus, Short lingual frenulum, Short uvula, Cleft palate, Agenesis of permanent teeth, Fused... |
OMIM:614091 |
Craniotubular Dysplasia, Ikegawa Type |
|
Optic neuropathy, Hypertelorism, Optic atrophy, Proptosis, Optic nerve compression, Mydriasis |
OMIM:619727 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Arthrogryposis multiplex congenita, Proptosis, Hypertelorism |
OMIM:615834 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Median cleft lip, Micrognathia, Cleft palate, Microglossia |
OMIM:241800 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Smooth philtrum, Thin upper lip vermilion, Hyperactivity, Restlessness, Mi... |
OMIM:300534 |
Meckel Syndrome 12 |
|
Bifid uvula, Antecubital pterygium, Micrognathia |
OMIM:616258 |
Stickler Syndrome, Type I |
|
Micrognathia, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, Malar flattening,... |
OMIM:108300 |
Joubert Syndrome 18 |
|
Lobulated tongue, Retrognathia, Cleft palate |
OMIM:614815 |
Hereditary Folate Malabsorption |
|
Nausea and vomiting, Anorexia, Diarrhea, Cheilitis, Gastroesophageal reflux, Glossitis |
ORPHA:90045 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus... |
OMIM:615582 |
Van Esch-O'Driscoll Syndrome |
|
Impulsivity, Esophageal atresia, Tracheoesophageal fistula, Feeding difficulties, Upslanted palpe... |
OMIM:301030 |
Filippi Syndrome |
|
Proptosis, Optic atrophy |
OMIM:272440 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Telecanthus, Highly arched eyebrow, Abnormality of the dentition, Hypoplas... |
ORPHA:1299 |
Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Hypertelorism, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal anterior... |
ORPHA:2479 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
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 |
Trisomy 9P |
|
Deeply set eye, Abnormal pupil morphology, Hypertelorism |
ORPHA:236 |
Cinca Syndrome |
|
Edema, Retrobulbar optic neuritis, Uveitis, Proptosis, Pseudopapilledema |
ORPHA:1451 |
Lateral Meningocele Syndrome |
|
Proptosis, Iris coloboma, Hypertelorism |
ORPHA:2789 |
Juvenile Nasopharyngeal Angiofibroma |
|
Facial edema, Proptosis |
ORPHA:289596 |
Lowry-Maclean Syndrome |
|
Corneal opacity, Congenital diaphragmatic hernia, Developmental glaucoma, Proptosis, Megalocornea |
ORPHA:2409 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Facial palsy, Optic atrophy, Limb hypertonia, Proptosis, Ascites, Mydriasis |
OMIM:259720 |
Choreoacanthocytosis |
|
Self-mutilation of tongue and lips due to involuntary movements, Temporomandibular joint crepitus... |
ORPHA:2388 |
Desmosterolosis |
|
Epicanthus, Intestinal malrotation, Micrognathia, Submucous cleft hard palate, Cleft palate, Feed... |
ORPHA:35107 |
Pontocerebellar Hypoplasia, Type 1B |
|
Tongue atrophy, Tongue fasciculations, Feeding difficulties |
OMIM:614678 |
Nephroblastoma |
|
Aniridia |
ORPHA:654 |
Limb-Mammary Syndrome |
|
Absent lacrimal punctum, Chronic irritative conjunctivitis, Sparse eyebrow, Cleft hard palate, Cl... |
ORPHA:69085 |
9Q21.13 Microdeletion Syndrome |
|
Abnormal tongue morphology, Gastrointestinal dysmotility, Downturned corners of mouth, Long palpe... |
ORPHA:531151 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Tented upper lip vermilion, Cleft palate, Furrowed tongue, High palate, Short philtru... |
OMIM:616449 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Esophageal atresia, ... |
ORPHA:87 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Dental crowding, Sparse eyebrow, High, narrow palate, Synophrys, Thick low... |
OMIM:309583 |
Popliteal Pterygium Syndrome |
|
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Ankyloblepharon, Cleft palate, Popliteal pter... |
OMIM:119500 |
Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Curly eyelashes, Micrognathia, Cleft lip, Cleft palate, Feeding difficu... |
OMIM:301022 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Microphthalmia, Isolated 4 |
|
Coloboma |
OMIM:613094 |
Marshall Syndrome |
|
Thick upper lip vermilion, Epicanthus, Micrognathia, Absent frontal sinuses, Thick lower lip verm... |
OMIM:154780 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Proptosis, Optic atrophy, Hypertelorism |
ORPHA:93262 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Cleft soft palate, Highly arched eyebrow, Micrognathia, Feeding difficulties, Submucous cleft sof... |
ORPHA:2282 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Hyperactivity, Dental crowding, Aggressive behavior, Synophrys, Narrow ... |
OMIM:616078 |
Cenani-Lenz Syndrome |
|
Cataract, Proptosis, Hypertelorism |
ORPHA:3258 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
Proboscis Lateralis |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Anophthalmia, Hypertelorism, Optic disc colobo... |
ORPHA:141099 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... |
ORPHA:160148 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Furrowed tongue |
ORPHA:2928 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal opacity, Hypertelorism, Hypermyelinated retinal nerve fibers, Hypotelorism, Corneal strom... |
OMIM:601812 |
Waardenburg Syndrome, Type 2E |
|
Ocular albinism, Blue irides, Hypoplasia of the iris, Heterochromia iridis, Hypopigmentation of t... |
OMIM:611584 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... |
OMIM:277320 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Flexion contracture, Hydrops fetalis, Developmental cataract, Proptosis, Pterygium |
ORPHA:1865 |
Biemond Syndrome Type 2 |
|
Coloboma, Short stature, Delayed puberty |
ORPHA:141333 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Highly arched eyebrow, Micrognathia, Feeding difficulties, Hypoplasia of the tooth germ, Bifid uvula |
ORPHA:293967 |
Nivelon-Nivelon-Mabille Syndrome |
|
Hypoplasia of the iris, Optic disc coloboma |
OMIM:600092 |
Sifrim-Hitz-Weiss Syndrome |
|
Epicanthus, Upslanted palpebral fissure, Anteriorly placed anus, Bifid uvula, Short palpebral fis... |
OMIM:617159 |
Oculoectodermal Syndrome |
|
Lymphedema, Chorioretinal atrophy, Microcornea, Astigmatism, Proptosis, Opacification of the corn... |
OMIM:600268 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Feeding difficulties, Thick... |
OMIM:613805 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Cataract, Anterior chamber synechiae, Uveitis, Band keratopathy |
ORPHA:85410 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Feeding difficulties in infancy, Gingival overgrowth, Narrow palate, Anteriorly plac... |
OMIM:123790 |
Neu-Laxova Syndrome |
|
Abnormal nasolacrimal system morphology, Abnormality of the philtrum, Micrognathia, Abnormal eyel... |
ORPHA:2671 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity |
ORPHA:1064 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Scapular winging, Ectopia lentis, Deeply set eye, Keratoconjunctivitis sicca, Proptosis, Oligohyd... |
OMIM:616914 |
Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Cleft upper lip, Cleft palate, Downt... |
OMIM:601808 |
Down Syndrome |
|
Epicanthus, Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Upslanted palpebral fiss... |
OMIM:190685 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Telecanthus, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Synophry... |
ORPHA:364577 |
2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Hypertelorism, Optic disc coloboma, Proptosis, Microphthalmia, Iris colo... |
ORPHA:251014 |
15Q Overgrowth Syndrome |
|
Mandibular prognathia, Microretrognathia, Telecanthus, Dental crowding, Micrognathia, High, narro... |
ORPHA:314585 |
Chops Syndrome |
|
Cataract, Optic atrophy, Proptosis, Hypertelorism |
OMIM:616368 |
Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Carious teeth, Dacryocystitis, Feeding difficulties in infancy, Xerostomia... |
ORPHA:1051 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ptosis, Epicanthus, Thin upper lip vermilion, Lacrimal duct stenosis, Highly arched eyebrow, Feed... |
OMIM:617506 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Proptosis, Hypertelorism |
OMIM:612247 |
Hyperostosis Cranialis Interna |
|
Proptosis, Optic atrophy, Facial palsy |
OMIM:144755 |
Cardiofaciocutaneous Syndrome 1 |
|
Micrognathia, Feeding difficulties in infancy, Deep philtrum, High palate, Vomiting, Gastroesopha... |
OMIM:115150 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Death in infancy, Micrognathia, Abdominal distention, Alveolar ridge ov... |
OMIM:235255 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Micrognathia, Thin vermilion border, Long philtrum, Bifid uvula |
OMIM:241410 |
Double Outlet Right Ventricle |
|
Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Feeding difficulties, Narrow p... |
ORPHA:3426 |
Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormal eyelid morphology, Abnormal eyelash morph... |
ORPHA:193 |
Abruzzo-Erickson Syndrome |
|
Short stature, Microcornea, Coloboma, Chorioretinal coloboma, Iris coloboma |
ORPHA:921 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Epicanthus, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Abnormal lip morpholog... |
ORPHA:2759 |
Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption |
OMIM:606824 |
Desbuquois Dysplasia 2 |
|
Epicanthus, Dental crowding, Synophrys, Cleft palate, Hypodontia, Long philtrum, Bifid uvula |
OMIM:615777 |
Proteus-Like Syndrome |
|
Retinal detachment, Cataract, Abnormal pupil morphology, Limbal dermoid, Heterochromia iridis |
ORPHA:2969 |
Dural Sinus Malformation |
|
Papilledema, Chemosis, Proptosis, Cerebral edema |
ORPHA:97339 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... |
OMIM:180500 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth, Microdonti... |
ORPHA:1307 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa... |
OMIM:300990 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Selective tooth agenesis, Micrognathia, Dental malocclusion, Gastroesophageal reflux, Hypodontia,... |
ORPHA:2959 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae, Hypertelorism |
OMIM:601499 |
Holoprosencephaly 3 |
|
Cleft lip, Cleft palate, Solitary median maxillary central incisor, Malar flattening, Bifid uvula |
OMIM:142945 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Tolchin-Le Caignec Syndrome |
|
Hooded eyelid, Micrognathia, Submucous cleft hard palate, Nasolacrimal duct obstruction, High pal... |
OMIM:618971 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Sparse eyelashes, Sparse eyebrow, Bilateral cleft lip and palate, High ... |
OMIM:618874 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:617660 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Proptosis, Flexion contracture, Thenar muscle atrophy |
ORPHA:157965 |
Nephronophthisis 11 |
|
Anisocoria, Retinal degeneration |
OMIM:613550 |
Spinocerebellar Ataxia Type 3 |
|
Skeletal muscle atrophy, Proptosis |
ORPHA:98757 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Proptosis |
ORPHA:2776 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Aniridia |
OMIM:194072 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Glossoptosis, Cleft palate, Micrognathia |
ORPHA:440354 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Optic atrophy, Anisocoria, Abnormal autonomic nervous system physiology,... |
OMIM:231550 |
Seckel Syndrome 2 |
|
Microdontia, Microglossia, Micrognathia |
OMIM:606744 |
Vascular Malformation, Primary Intraosseous |
|
Proptosis, Diastasis recti |
OMIM:606893 |
Saul-Wilson Syndrome |
|
Cataract, Proptosis |
OMIM:618150 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Congenital diaphragmatic hernia, Polyhydramnios, Hypertelorism, Flexion contracture, Proptosis, O... |
OMIM:263210 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Abdominal distention, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased... |
OMIM:608104 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Cleft palate, Stillbirth, Protuberant abdomen, Long philtrum |
OMIM:200610 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Abnormality of the dentition, Cleft palate, Feeding difficulties, Long philtrum, Anal atresia, Sh... |
OMIM:300968 |
Marden-Walker Syndrome |
|
Micrognathia, Pyloric stenosis, Submucous cleft hard palate, Cleft palate, Feeding difficulties, ... |
ORPHA:2461 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Anteriorly placed anus, High palate,... |
OMIM:211380 |
Fibrochondrogenesis 1 |
|
Hydrops fetalis, Proptosis, Camptodactyly, Megalocornea, Joint contracture of the hand |
OMIM:228520 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Polyhydramnios, Centrally nucleated skeletal muscle fibers, Ac... |
OMIM:620351 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Proptosis, Hypertelorism |
OMIM:618577 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... |
OMIM:270420 |
Mulibrey Nanism |
|
Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malocclusion, Hypodo... |
OMIM:253250 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Epicanthus, Tented upper lip vermilion, Exaggerated cupid's bow, Aggressiv... |
ORPHA:464738 |
Pediatric-Onset Graves Disease |
|
Keratitis, Proptosis, Oligohydramnios |
ORPHA:525731 |
Tarp Syndrome |
|
Micrognathia, Cleft palate, Tongue nodules, Glossoptosis, High palate, Hepatic failure, Neonatal ... |
OMIM:311900 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Telecanthus, Nail-biting, Aggressive... |
OMIM:620330 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Feeding difficulties in infancy, Abdominal distention, Macroglossia, Constipation, Protuberant ab... |
ORPHA:226313 |
Frontoocular Syndrome |
|
Proptosis, Hypotelorism |
OMIM:605321 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia |
ORPHA:2714 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Camptodactyly of toe, Aniridia, Microphthalmia, Iris coloboma |
ORPHA:251038 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue atrophy, Dysphagia, Tongue fasciculations, Death in childhood, Ptosis |
OMIM:211530 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Cataract, Flexion contracture, Proptosis |
ORPHA:90153 |
Arterial Tortuosity Syndrome |
|
Micrognathia, Hiatus hernia, High palate, Long philtrum, Blepharophimosis, Malar flattening, Down... |
OMIM:208050 |
Desbuquois Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Proptosis, Camptodactyly of finger |
ORPHA:1425 |
Achondrogenesis Type 1A |
|
Abdominal distention, Long philtrum, Micrognathia |
ORPHA:93299 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Iris atrophy, Optic atrophy, Hypertelorism |
OMIM:201180 |
Orofaciodigital Syndrome Type 4 |
|
Median cleft lip, Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality... |
ORPHA:2753 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Attention deficit hyp... |
OMIM:619227 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
Collagenoma, Familial Cutaneous |
|
Iris atrophy |
OMIM:115250 |
Frias Syndrome |
|
Proptosis, Hypertelorism |
OMIM:609640 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Hip contracture, Peripheral opacification of the cornea, Corneal opacity, Interphalangeal joint c... |
OMIM:259600 |
Charcot-Marie-Tooth Disease Type 1E |
|
Hand muscle atrophy, Distal lower limb amyotrophy, Peroneal muscle weakness, Peroneal muscle atro... |
ORPHA:90658 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Eyelid coloboma, High palate, Branchial fi... |
ORPHA:861 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia |
OMIM:618727 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Epicanthus, Anal stenosis, Paranasal sinus hypoplasia, Intestinal malrotation, Denta... |
OMIM:300373 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Wide anterior fontanel, Protuberant abdomen, Micrognathia |
OMIM:618272 |
Congenital Disorder Of Glycosylation, Type It |
|
Micrognathia, Pierre-Robin sequence, Chronic diarrhea, Cleft palate, Vomiting, Bifid uvula |
OMIM:614921 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Ptosis, Epicanthus, Telecanthus, Anal stenosis, Micrognathia, Malabsor... |
ORPHA:235 |
Kinsship Syndrome |
|
Mandibular prognathia, Smooth philtrum, Thin upper lip vermilion, Death in infancy, Micrognathia,... |
OMIM:619297 |
Frontorhiny |
|
Epicanthus, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Bifid tongue, P... |
ORPHA:391474 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Adiposis Dolorosa |
|
Abdominal distention, Constipation |
OMIM:103200 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Bifid... |
ORPHA:2363 |
Oculogastrointestinal Muscular Dystrophy |
|
Spontaneous esophageal perforation, Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, ... |
ORPHA:1876 |
Chromosome 16P13.3 Duplication Syndrome |
|
Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Micrognathia, Synophrys, Nasola... |
OMIM:613458 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal distention... |
ORPHA:92050 |
Distal Deletion 10Q |
|
Scapular winging, Hypotelorism, Facial diplegia, Astigmatism, Proptosis |
ORPHA:96148 |
Ear-Patella-Short Stature Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Submucous cleft hard palate, Cleft ... |
ORPHA:2554 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia, Ascites |
OMIM:602361 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Micrognathia, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvula,... |
OMIM:619708 |
Holoprosencephaly 11 |
|
Proptosis, Hypotelorism |
OMIM:614226 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... |
ORPHA:2250 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Submucous cleft hard palate, High palate, Micrognathia |
OMIM:222765 |
Platyspondylic Dysplasia, Torrance Type |
|
Malar flattening, Abdominal distention, Cleft palate |
ORPHA:85166 |
Acrofacial Dysostosis 1, Nager Type |
|
Sparse lower eyelashes, Aganglionic megacolon, Micrognathia, Cleft upper lip, Trismus, Velopharyn... |
OMIM:154400 |
Waardenburg Syndrome, Type 1 |
|
Hypertelorism, Blue irides, Hypoplastic iris stroma, Heterochromia iridis, Hypopigmentation of th... |
OMIM:193500 |
Walker-Warburg Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:899 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Microglossia, Narrow mouth |
ORPHA:1972 |
Orofaciodigital Syndrome Type 6 |
|
Epicanthus, Highly arched eyebrow, Micrognathia, Hamartoma of tongue, Feeding difficulties in inf... |
ORPHA:2754 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Abnormal nasolacrimal system morphology, Micrognathia, Submucous cleft hard palate, Feeding diffi... |
ORPHA:3047 |
Familial Dysautonomia |
|
Orthostatic hypotension, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrop... |
ORPHA:1764 |
Spondyloepiphyseal Dysplasia Congenita |
|
Malar flattening, Pierre-Robin sequence, Bifid uvula, Cleft palate |
OMIM:183900 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue atrophy, Tongue fasciculations |
OMIM:601596 |
Zttk Syndrome |
|
Epicanthus, Abnormality of the dentition, Sparse eyebrow, Hypoplasia of the maxilla, Feeding diff... |
OMIM:617140 |
Holzgreve Syndrome |
|
Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate |
ORPHA:2167 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, A... |
OMIM:268305 |
Thanatophoric Dysplasia |
|
Increased nuchal translucency, Proptosis, Polyhydramnios |
ORPHA:2655 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Corneal dystrophy, Hypoplasia of the musculature, Camptodactyly of finger, Abnormal... |
ORPHA:1101 |
Myopathy, Myofibrillar, 7 |
|
Tongue atrophy, Bowel incontinence, Dysphagia |
OMIM:617114 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thin upper lip vermilion, Micrognathia, Feeding difficulties in infancy, Pierre-Robin sequence, C... |
OMIM:611209 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Micrognathia, High, narrow palate, Cleft palate, Glossoptosis, Abnormality of frontal sinus, Down... |
ORPHA:436003 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Proptosis |
OMIM:619451 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Micrognathia, Wide anterio... |
OMIM:268310 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Carious teeth, Glossoptosis, Micrognathia |
ORPHA:93346 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Impulsivity, Aggressive behavior, High, narrow palate, Upslanted palpebral fissu... |
OMIM:300967 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Epicanthus, Telecanthus, Median cleft lip, Hamartoma of tongue, Cleft upper li... |
OMIM:311200 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue atrophy, Tongue fasciculations |
OMIM:620285 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Ectropion of lower eyelids, Episodic vomiting, Polyphagia, Eyelid coloboma, ... |
OMIM:615873 |
Catel-Manzke Syndrome |
|
Micrognathia, Cleft upper lip, Pierre-Robin sequence, Nasolacrimal duct obstruction, Cleft palate... |
OMIM:616145 |
Chitayat Syndrome |
|
Proptosis, Polyhydramnios, Hypertelorism |
OMIM:617180 |
Thyroid Hypoplasia |
|
Macroglossia, Constipation, Abdominal distention |
ORPHA:95720 |
Microhydranencephaly |
|
Multiple joint contractures, Skeletal muscle atrophy, Proptosis, Generalized amyotrophy |
OMIM:605013 |
Muenke Syndrome |
|
Proptosis, Hypertelorism |
OMIM:602849 |
Frontometaphyseal Dysplasia 2 |
|
Feeding difficulties in infancy, Pyloric stenosis, Deep philtrum, Pierre-Robin sequence, Cleft pa... |
OMIM:617137 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Proptosis |
OMIM:618821 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M... |
ORPHA:1452 |
Lead Poisoning |
|
Delayed eruption of teeth, Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Vomiting,... |
ORPHA:330015 |
Lethal Kniest-Like Dysplasia |
|
Wide anterior fontanel, Protuberant abdomen, Cleft palate |
ORPHA:2347 |
Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal op... |
ORPHA:649 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Sparse eyebrow, Cleft lip, Hypoplastic facia... |
OMIM:616300 |
Thanatophoric Dysplasia Type 2 |
|
Increased nuchal translucency, Proptosis, Polyhydramnios |
ORPHA:93274 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Corneal opacity, Optic nerve hypoplasia, Hypertelorism, Lymphedema, ... |
ORPHA:536471 |
Alpha-Mannosidosis, Infantile Form |
|
Optic disc pallor, Cataract, Corneal opacity, Facial hypotonia, Hypertelorism, Macroglossia, Myop... |
ORPHA:309282 |
Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:615108 |
Neurodevelopmental Disorder With Absent Language And Variable Seizures |
|
Deeply set eye, Proptosis |
OMIM:618707 |
Coffin-Siris Syndrome 12 |
|
Epicanthus, Highly arched eyebrow, Micrognathia, Celiac disease, Abnormal repetitive mannerisms, ... |
OMIM:619325 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Coloboma, Developmental cataract |
ORPHA:324416 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy |
ORPHA:103910 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Hypotelorism, Proptosis, Chorioretinal coloboma, Microph... |
OMIM:157170 |
Wolman Disease |
|
Nausea and vomiting, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea, Hepatic f... |
ORPHA:75233 |
Toriello-Lacassie-Droste Syndrome |
|
Aganglionic megacolon, Polyhydramnios, Abnormal conjunctiva morphology, Proptosis, Limbal dermoid |
ORPHA:3339 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
Hereditary Mucoepithelial Dysplasia |
|
Gingival overgrowth, Tracheoesophageal fistula, Furrowed tongue |
ORPHA:1839 |
Alg9-Cdg |
|
Microretrognathia, Thin upper lip vermilion, Telecanthus, Villous atrophy, Micrognathia, Wide ant... |
ORPHA:79328 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Epicanthus, Exaggerated cupid's bow, Feeding difficulties, Chronic constipation, Thick vermilion ... |
OMIM:619480 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Anophthalmia, Sclerocornea, Microcornea, Ectopia pupillae, Microphthalmia |
OMIM:615877 |
Duane Retraction Syndrome |
|
Skeletal muscle atrophy, Central heterochromia, Optic disc hypoplasia, Abnormal pupil morphology,... |
ORPHA:233 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Proptosis, Optic atrophy |
ORPHA:1185 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Proptosis, Camptodactyly of finger, Polyhydramnios |
ORPHA:2774 |
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Chronic constipation, Ankyloglossia |
OMIM:619352 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Proptosis, Pheochromocytoma, Chor... |
ORPHA:636 |
Jackson-Weiss Syndrome |
|
Proptosis, Hypertelorism |
ORPHA:1540 |
Orofaciodigital Syndrome Type 1 |
|
Epicanthus, Telecanthus, Median cleft lip, Abnormal dental enamel morphology, Hamartoma of tongue... |
ORPHA:2750 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Epicanthus, Telecanthus, Micrognathia, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft... |
OMIM:616894 |
Neuroocular Syndrome |
|
Highly arched eyebrow, Lagophthalmos, Synophrys, Short uvula, Submucous cleft hard palate, Nasola... |
OMIM:619539 |
Wolf-Hirschhorn Syndrome |
|
Sclerocornea, Hypertelorism, Congenital diaphragmatic hernia, Optic atrophy, Proptosis, Megalocor... |
ORPHA:280 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Thin upper lip vermilion, Highly arched eyebrow, Bowel incontinence, High, nar... |
ORPHA:261330 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Long uvula, Micrognathia, Bilateral ptosis, Tooth malposition, Narrow palate, Keratoconjunctiviti... |
ORPHA:536532 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... |
OMIM:155310 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Esophageal atresia, Pyloric stenosis, Dental ma... |
OMIM:101200 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Protuberant abdomen, Cleft palate |
OMIM:184250 |
Malignant Peritoneal Mesothelioma |
|
Abdominal distention, Peritonitis, Ileus, Abdominal pain |
ORPHA:168811 |
Melkersson-Rosenthal Syndrome |
|
Macroglossia, Cheilitis, Furrowed tongue |
ORPHA:2483 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Malabsorption, Chronic diarrhea, Glossoptosis, Conjunctivitis |
ORPHA:47 |
Mandibuloacral Dysplasia |
|
Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, High palate |
ORPHA:2457 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hypoplasia of the iris, Myopathy |
ORPHA:169090 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abdominal pain, Abdominal distention, Diarrhea, Abnormal fear-induced behavior, Con... |
ORPHA:100924 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Limb joint contracture, Nonimmune hydrops fetalis, Polyhydramn... |
OMIM:620369 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... |
ORPHA:1507 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Limbal dermoid, Microphthalmia, Sclerocornea |
OMIM:613001 |
Retinoblastoma |
|
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma |
OMIM:180200 |
Cardiofaciocutaneous Syndrome |
|
Epicanthus, Abnormal eyelash morphology, Feeding difficulties in infancy, Submucous cleft hard pa... |
ORPHA:1340 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Feeding difficulties in infancy, Synophrys, Polyphagia, Orofacial cleft, High palate, Gastroesoph... |
OMIM:607872 |
Charge Syndrome |
|
Delayed eruption of teeth, Epicanthus, Highly arched eyebrow, Cleft upper lip, Abnormal soft pala... |
ORPHA:138 |
Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:615109 |
H Syndrome |
|
Corneal arcus, Proptosis, Camptodactyly, Upper eyelid edema |
ORPHA:168569 |
Alobar Holoprosencephaly |
|
Median cleft lip, Cleft palate, Dysphagia, Feeding difficulties, High palate, Vomiting, Gastroeso... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Median cleft lip, Cleft palate, Dysphagia, Feeding difficulties, High palate, Vomiting, Gastroeso... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Median cleft lip, Cleft palate, Dysphagia, Feeding difficulties, High palate, Vomiting, Gastroeso... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Median cleft lip, Cleft palate, Dysphagia, Feeding difficulties, High palate, Vomiting, Gastroeso... |
ORPHA:220386 |
Meckel Syndrome |
|
Cataract, Abnormal chorioretinal morphology, Anophthalmia, Sclerocornea, Hypertelorism, Optic atr... |
ORPHA:564 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Micrognathia, Gastrointestinal dysmotility, Vomiting, Gastroesophageal reflux, S... |
OMIM:270400 |
Ring Chromosome 7 Syndrome |
|
Unilateral ptosis, Mandibular prognathia, Epicanthus, Highly arched eyebrow, Bilateral ptosis, Cl... |
ORPHA:1449 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin upper lip vermilion, Epicanthus, Deep philtrum, Submucous cleft hard palate, Thin lower lip ... |
OMIM:619194 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Abnormal nasolacrimal system morphology, Abnormal dental enamel morphology... |
ORPHA:2658 |
Galloway-Mowat Syndrome 1 |
|
Cataract, Hypertelorism, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stro... |
OMIM:251300 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Proptosis |
OMIM:614078 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Micrognathia, Tracheoesophageal fistula, Orofacial cleft, High ... |
ORPHA:958 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Malnutrition, Dysphagia, ... |
ORPHA:89842 |
Whipple Disease |
|
Myositis, Proptosis, Uveitis, Pedal edema |
ORPHA:3452 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Epicanthus, Tracheoesophageal fistula, Feeding difficulties, High palat... |
OMIM:277380 |
Restrictive Dermopathy 1 |
|
Natal tooth, Entropion, Sparse eyelashes, Micrognathia, Absent eyelashes, Wide anterior fontanel,... |
OMIM:275210 |
Revesz Syndrome |
|
Exudative retinopathy, Megalocornea, Leukocoria |
OMIM:268130 |
Caffey Disease |
|
Proptosis |
ORPHA:1310 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, Developmental cata... |
OMIM:175780 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Cleft soft palate, Aggressive behavior, Pyloric stenosis, Supernumerary tooth, Nasogastric tube f... |
ORPHA:268261 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Mandibular aplasia, Microglossia, Aplasia/Hypoplasia of the eyebrow, Narrow mouth |
ORPHA:990 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Proptosis |
OMIM:242500 |
Multiple System Atrophy 1, Susceptibility To |
|
Iris atrophy, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Skeletal mus... |
OMIM:146500 |
Ritscher-Schinzel Syndrome 4 |
|
Deeply set eye, Proptosis, Hypertelorism, Hypotelorism |
OMIM:619435 |
Alagille Syndrome |
|
Keratoconus, Corneal dystrophy, Hypertelorism, Abnormal pupil morphology, Deeply set eye |
ORPHA:52 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Buphthalmos, Retinal detachment, Rieger anomaly, Primary congenital glaucoma |
ORPHA:521445 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Glossitis, Cleft palate, Feeding difficulties |
ORPHA:79284 |
Achondrogenesis, Type Ib |
|
Malar flattening, Stillbirth, Abdominal distention |
OMIM:600972 |
Roberts Syndrome |
|
Cataract, Progressive flexion contractures, Polyhydramnios, Hypertelorism, Knee flexion contractu... |
ORPHA:3103 |
Orofaciodigital Syndrome Vi |
|
Epicanthus, Hamartoma of tongue, Micrognathia, Accessory oral frenulum, Cleft upper lip, Cleft pa... |
OMIM:277170 |
Ovarian Fibroma |
|
Abdominal distention, Odontogenic keratocysts of the jaw, Peritonitis, Abdominal pain |
ORPHA:314473 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Epicanthus, Cleft soft palate, Feeding difficulties |
OMIM:614557 |
Short Syndrome |
|
Rieger anomaly, Cataract, Deeply set eye, Astigmatism, Megalocornea |
OMIM:269880 |
Localized Scleroderma |
|
Skeletal muscle atrophy, Flexion contracture, Uveitis, Deeply set eye, Myopathy, Proptosis |
ORPHA:90289 |
Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Optic disc coloboma, Optic atrophy, Elbow flexion contracture, M... |
OMIM:122470 |
Wagro Syndrome |
|
Aniridia, Cataract, Corneal opacity |
OMIM:612469 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Synophrys, High palate, Short philtrum, Vomiting, Tics, Compulsive behaviors... |
OMIM:619475 |
Schneckenbecken Dysplasia |
|
Malar flattening, Protuberant abdomen, Stillbirth, Cleft palate |
OMIM:269250 |
Chand Syndrome |
|
Cleft palate, Ankyloblepharon, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Ag... |
ORPHA:1401 |
Bazex-Dupre-Christol Syndrome |
|
Furrowed tongue |
OMIM:301845 |
Familial Visceral Myopathy |
|
Abdominal distention, Aganglionic megacolon, Cleft palate, Micrognathia |
ORPHA:2604 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Micrognathia, Abdominal distention, Alveolar ridge overgrowth, High pal... |
ORPHA:1655 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sparse eyelashes, Trichiasis, Sparse eyebrow, Furrowed tongue, Keratoconjunctivitis sicca, Microd... |
OMIM:148210 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Feeding difficulties in infancy, Attention deficit hyperactivity disorder, Submucous cleft hard p... |
OMIM:618891 |
Hardikar Syndrome |
|
Lacrimal duct stenosis, Cleft soft palate, Intestinal malrotation, Abdominal pain, Celiac disease... |
OMIM:301068 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Blepharophimosis, Glossoptosis, Ptosis |
ORPHA:2031 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Wide mouth, Narrow mouth, Intractable diarrhea, Hepatic failure, Downslanted pal... |
OMIM:222470 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Epicanthus, Accessory oral frenulum, Micrognathia, Wide anterior fontanel, Upslanted palpebral fi... |
OMIM:266920 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Proptosis, Optic atrophy, Hypertelorism |
OMIM:614800 |
Sclerosteosis 1 |
|
Papilledema, Facial palsy, Hypertelorism, Optic atrophy, Proptosis |
OMIM:269500 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Micrognathia, Cleft palate, Feeding difficulties, Glossoptosis, Short hard palate |
ORPHA:1393 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Natal tooth, Epicanthus, Thin upper lip vermilion, Micrognathia, Sparse eyebrow, ... |
OMIM:620186 |
Smith-Lemli-Opitz Syndrome |
|
Cataract, Aganglionic megacolon, Sclerocornea, Hypertelorism, Polyhydramnios, Congenital diaphrag... |
ORPHA:818 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Micrognathia, Synophrys, Deep philtrum, Downturned corner... |
OMIM:619503 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Peripheral axonal neuropathy, Di... |
ORPHA:276244 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Bifid uvula, Micrognathia |
OMIM:601374 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Torticollis, Multiple joint contractures, Microcornea, Proptosis, Peripapillary atrophy, Oligohyd... |
ORPHA:536467 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Cyclopia, Proptosis, Hypertelorism |
ORPHA:2165 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Short stature, Microcornea, Coloboma, Iris transillumination defect |
OMIM:617306 |
Frank-Ter Haar Syndrome |
|
Hypertelorism, Developmental glaucoma, Buphthalmos, Proptosis, Camptodactyly, Megalocornea |
OMIM:249420 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Elbow flexion contracture, Corneal arcus, Proptosis, Joint contracture o... |
OMIM:602782 |
Autosomal Dominant Robinow Syndrome |
|
Micrognathia, High, narrow palate, Abnormality of the gingiva, Downturned corners of mouth, Oligo... |
ORPHA:3107 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Smooth philtrum, Epicanthus, Thin upper lip vermilion, Highly arched eyebr... |
OMIM:612474 |
Hartnup Disease |
|
Glossitis, Gingivitis, Malabsorption |
ORPHA:2116 |
Bohring-Opitz Syndrome |
|
Delayed peripheral myelination, Polyhydramnios, Hypertelorism, Flexion contracture, Proptosis, Ab... |
OMIM:605039 |
Desbuquois Dysplasia 1 |
|
Developmental glaucoma, Proptosis |
OMIM:251450 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Micrognathia, Submucous cleft hard palate, Cleft palate, Gastroesophageal reflu... |
OMIM:301043 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Smooth philtrum, Epicanthus, Micrognathia, Cleft lip, Furrowed tongue, Upslanted palpebral fissur... |
OMIM:616975 |
Cherubism |
|
Macular scar, Proptosis, Marcus Gunn pupil, Optic neuropathy |
OMIM:118400 |
Atelosteogenesis Type I |
|
Proptosis, Retinal dysplasia, Polyhydramnios, Hypertelorism |
ORPHA:1190 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Proptosis, Hypertelorism |
OMIM:620250 |
Graves Disease, Susceptibility To, 1 |
|
Proptosis |
OMIM:275000 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Congenital muscular torticollis, Camptodactyly of finger, Polyhydramnios... |
ORPHA:2215 |
Tetrasomy 9P |
|
Epicanthus, Median cleft lip and palate, Dental crowding, Abnormal dental enamel morphology, Hype... |
ORPHA:3310 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Nausea and vomiting, Ectropion, Oral mucosal blisters, Abdominal distention, Congenital pyloric a... |
ORPHA:79403 |
Craniofaciofrontodigital Syndrome |
|
Polyhydramnios, Edema, Pericardial effusion, Hypertelorism, Lower eyelid edema, Macroglossia, Pro... |
ORPHA:363705 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Cranial ... |
ORPHA:29072 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation |
ORPHA:168829 |
Oculodentodigital Dysplasia |
|
Cataract, Camptodactyly of finger, Hypertelorism, Optic atrophy, Abnormality iris morphology, Hyp... |
ORPHA:2710 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hypoplasia of eyelid, Intestinal malrotation, Cleft soft palate, Downturned corners of mouth, Smo... |
OMIM:619321 |
Psoriasis 14, Pustular |
|
Geographic tongue, Furrowed tongue |
OMIM:614204 |
Tyshchenko Syndrome |
|
Proptosis, Polyhydramnios |
OMIM:615102 |
Stickler Syndrome |
|
Retinal detachment, Skeletal muscle atrophy, Cataract, Hypertelorism, Ectopia lentis, Abnormal vi... |
ORPHA:828 |
Steinfeld Syndrome |
|
Bifid uvula, Median cleft lip and palate |
OMIM:184705 |
Viss Syndrome |
|
Chronic gastritis, Micrognathia, High, narrow palate, High palate, Gastroesophageal reflux, Broad... |
OMIM:619472 |
19P13.12 Microdeletion Syndrome |
|
Arthrogryposis multiplex congenita, Proptosis, Hypertelorism |
ORPHA:254346 |
Machado-Joseph Disease |
|
Distal amyotrophy, Proptosis, Abnormal autonomic nervous system physiology |
OMIM:109150 |
Prolidase Deficiency |
|
Abnormality of retinal pigmentation, Proptosis, Hypertelorism |
ORPHA:742 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Telecanthus, Sparse eyelashes, Micrognathia, Sparse eyebrow, High, narrow palate, Su... |
ORPHA:2108 |
Jackson-Weiss Syndrome |
|
Proptosis |
OMIM:123150 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Telecanthus, Micrognathia, Downslanted palpebral fissures, Absent uvula, Ptosis |
OMIM:600383 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Proptosis |
OMIM:274300 |
Cowden Syndrome 1 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:158350 |
Opitz Gbbb Syndrome |
|
Natal tooth, Telecanthus, Micrognathia, Feeding difficulties in infancy, Cleft lip, Tracheoesopha... |
ORPHA:2745 |
Muenke Syndrome |
|
Proptosis, Hypertelorism |
ORPHA:53271 |
Cole-Carpenter Syndrome 2 |
|
Proptosis, Oligohydramnios, Hypertelorism |
OMIM:616294 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Proptosis |
ORPHA:2522 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Epicanthus, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Lobulated... |
OMIM:269860 |
Shashi-Pena Syndrome |
|
Limb hypertonia, Proptosis, Hypertelorism |
OMIM:617190 |
Acrofrontofacionasal Dysostosis 2 |
|
Proptosis, Hypertelorism |
OMIM:239710 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Optic atrophy, Knee flexion contracture, Proptosis, Chorioretinal coloboma |
OMIM:210730 |
Meester-Loeys Syndrome |
|
Gingival overgrowth, High palate, Malar flattening, Downslanted palpebral fissures, Bifid uvula |
OMIM:300989 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Palpebral edema, Facial edema, Xerostomia, Keratoconjunctivitis sicca, Proptosis, Abnor... |
ORPHA:79078 |
Insulin-Like Growth Factor I, Resistance To |
|
Deeply set eye, Rieger anomaly |
OMIM:270450 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Joint contracture, Proptosis |
OMIM:615381 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Epicanthus, Gastroparesis, Sparse eyebrow, Hypoplasia of the maxilla, Gastrointestinal dysmotilit... |
ORPHA:500150 |
Giant Cell Arteritis |
|
Anorexia, Abdominal pain, Gastrointestinal infarctions, Hepatic failure, Glossitis, Ptosis |
ORPHA:397 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Absent a... |
OMIM:259770 |
Craniosynostosis 4 |
|
Proptosis, Optic nerve hypoplasia, Hypertelorism |
OMIM:600775 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Optic nerve hypoplasia, Flexion contracture, Shallow orbits, Proptosis, Camptodactyly |
OMIM:620029 |
Trisomy 8P |
|
Malrotation of small bowel, Cleft palate, Upslanted palpebral fissure, Thin vermilion border, Con... |
ORPHA:264450 |
Imerslund-Gräsbeck Syndrome |
|
Angular cheilitis, Poor appetite, Constipation, Vomiting, Glossitis |
ORPHA:35858 |
Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Epicanthus, Telecanthus, Palpebral edema, Lower eyelid coloboma, Agenesis ... |
OMIM:181270 |
20Q13.33 Microdeletion Syndrome |
|
Proptosis, Facial hypotonia, Oligohydramnios, Hypertelorism |
ORPHA:261311 |
Distal Deletion 12Q |
|
Telecanthus, Median cleft lip, Hyperactivity, Micrognathia, Wide anterior fontanel, High, narrow ... |
ORPHA:96149 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrow... |
ORPHA:769 |
Pelvis-Shoulder Dysplasia |
|
Micrognathia, Microglossia, Cleft palate, Thick anterior alveolar ridges, Short palpebral fissure |
ORPHA:2839 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Proptosis, Optic atrophy, Hypertelorism |
ORPHA:1555 |
Thanatophoric Dysplasia Type 1 |
|
Increased nuchal translucency, Proptosis, Polyhydramnios |
ORPHA:1860 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abdominal distention, Protuberant abdomen, Death in infancy |
OMIM:277300 |
Hereditary Acrokeratotic Poikiloderma |
|
Premature loss of primary teeth, Abnormality of the dentition, Open bite, Trismus, Xerostomia, Gi... |
ORPHA:2907 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Hypoplastic frontal sinuses, Pierre-Robin sequence, Cleft palate, Glossoptosis, Oli... |
ORPHA:90652 |
Alternating Hemiplegia Of Childhood |
|
Exaggerated cupid's bow, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Abdominal dist... |
ORPHA:2131 |
Primary Effusion Lymphoma |
|
Abdominal distention, Abdominal pain |
ORPHA:48686 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Abdominal distention |
OMIM:174050 |
Celiac Disease, Susceptibility To, 1 |
|
Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Vomiting, Recurrent aphthous stom... |
OMIM:212750 |
Diamond-Blackfan Anemia |
|
Epicanthus, Cleft soft palate, Micrognathia, Cleft lip, High palate, Adenocarcinoma of the colon,... |
ORPHA:124 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Xerostomia, Macroglossia, Dysph... |
ORPHA:85443 |
Fanconi Anemia |
|
Cataract, Aganglionic megacolon, Hypertelorism, Aplasia/Hypoplasia of the iris, Astigmatism, Prop... |
ORPHA:84 |
Glucagonoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97280 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Aganglionic megacolon, Optic disc coloboma, Microcornea, Ciliary body coloboma, Cho... |
OMIM:309800 |
Waldenström Macroglobulinemia |
|
Periorbital edema, Abnormal retinal vascular morphology, Retinal hemorrhage, Pedal edema, Proptos... |
ORPHA:33226 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Hypertelorism, Decreased muscle mass, Proptosis, Shallow orbits |
ORPHA:73230 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Submucous cleft har... |
OMIM:300166 |
Baller-Gerold Syndrome |
|
Epicanthus, Micrognathia, Wide anterior fontanel, Cleft palate, Perineal fistula, Anteriorly plac... |
OMIM:218600 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Proptosis |
OMIM:604804 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Multiple joint contractures, Optic nerve hypoplasia, Ankle flexion contracture... |
ORPHA:468631 |
Colonic Atresia |
|
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Focal Dermal Hypoplasia |
|
Corneal opacity, Diastasis recti, Congenital diaphragmatic hernia, Ectopia lentis, Camptodactyly ... |
ORPHA:2092 |
Prolidase Deficiency |
|
Proptosis, Hypertelorism |
OMIM:170100 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Telecanthus, Hamartoma of tongue, Accessory oral frenulum, Supernumerary tooth... |
ORPHA:434179 |
Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Death in infancy, Micrognathia, Carious teeth, Feeding difficulties, Thin vermilion ... |
OMIM:601559 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Elbow flexion contractu... |
OMIM:608328 |
Tarp Syndrome |
|
Micrognathia, Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Glossoptosis, Abnor... |
ORPHA:2886 |
Odontoonychodermal Dysplasia |
|
Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widel... |
OMIM:257980 |
Bainbridge-Ropers Syndrome |
|
Polyhydramnios, Hypertelorism, Deeply set eye, Contracture of the proximal interphalangeal joint ... |
OMIM:615485 |
Machado-Joseph Disease Type 1 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Proptosis |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Proptosis |
ORPHA:276241 |
Aminopterin/Methotrexate Embryofetopathy |
|
Proptosis, Hypertelorism |
ORPHA:1908 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Proptosis, Camptodactyly of finger |
ORPHA:1323 |
Donohue Syndrome |
|
Skeletal muscle atrophy, Proptosis |
OMIM:246200 |
Acrocraniofacial Dysostosis |
|
Proptosis, Hypertelorism |
ORPHA:949 |
Ogden Syndrome |
|
Torticollis, Proptosis |
ORPHA:276432 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Proptosis, Camptodactyly, Hypertelorism |
OMIM:613385 |
Antley-Bixler Syndrome |
|
Proptosis, Camptodactyly of finger, Hypertelorism |
ORPHA:83 |
Mucoepithelial Dysplasia, Hereditary |
|
Erythematous oral mucosa, Chronic diarrhea, Furrowed tongue, Melena, Keratoconjunctivitis |
OMIM:158310 |
Hennekam-Beemer Syndrome |
|
Proptosis, Optic atrophy, Camptodactyly of finger |
ORPHA:2135 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain |
ORPHA:83469 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Proptosis |
OMIM:617895 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Hooded eyelid, Micrognathia, Synophrys, Episodic vomiting, Short philtrum,... |
OMIM:619841 |
Arboleda-Tham Syndrome |
|
Optic atrophy, Upper limb amyotrophy, Upper eyelid edema, Deeply set eye, Lower limb hypertonia, ... |
OMIM:616268 |
Cockayne Syndrome B |
|
Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased nerve conduction ... |
OMIM:133540 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Micrognathia, Loss of eyelashes, Submucous cleft hard palate, Cleft palate, Thick vermilion borde... |
ORPHA:2636 |
Chylomicron Retention Disease |
|
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption |
ORPHA:71 |
Marshall-Smith Syndrome |
|
Microretrognathia, Eclabion, Prominence of the premaxilla, Irregular dentition, Highly arched eye... |
OMIM:602535 |
Frontometaphyseal Dysplasia |
|
Micrognathia, Cleft palate, Oligodontia, Downslanted palpebral fissures, Bifid uvula |
ORPHA:1826 |
Restrictive Dermopathy 2 |
|
Proptosis |
OMIM:619793 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Knee flexion contracture, Hip contracture, Proptosis, Hypertelorism |
OMIM:156400 |
Agel Amyloidosis |
|
Tongue atrophy, Bilateral ptosis, Xerostomia, Keratoconjunctivitis sicca, Blepharochalasis |
ORPHA:85448 |
Neu-Laxova Syndrome 1 |
|
Cataract, Polyhydramnios, Hypertelorism, Proptosis, Camptodactyly, Microphthalmia, Pterygium, Joi... |
OMIM:256520 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Anal at... |
OMIM:613091 |
Campomelic Dysplasia |
|
Irregular dentition, Epicanthus, Micrognathia, Carious teeth, Wide anterior fontanel, Submucous c... |
OMIM:114290 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Congenital diaphragmatic hernia, Hypertelorism, Developmental glaucoma, Elbow flexion contracture... |
OMIM:245600 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Central heterochromia, Cataract, Decreased muscle mass, Hype... |
ORPHA:744 |
1Q21.1 Microdeletion Syndrome |
|
Epicanthus, High palate, Attention deficit hyperactivity disorder, Long philtrum, Ankyloglossia |
ORPHA:250989 |
Nephrotic Syndrome, Type 1 |
|
Pyloric stenosis, Gastroesophageal reflux, Abdominal distention |
OMIM:256300 |
20Q11.2 Microduplication Syndrome |
|
Periorbital edema, Proptosis, Palpebral edema |
ORPHA:363659 |
Microvillus Inclusion Disease |
|
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea |
ORPHA:2290 |
Zygomycosis |
|
Retinal detachment, Periorbital edema, Retinal arterial occlusion, Pleural effusion, Proptosis, C... |
ORPHA:73263 |
Dysostosis, Stanescu Type |
|
Macroglossia, Proptosis, Hypertelorism |
ORPHA:1798 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Anorexia, Abdominal pain, Abdominal distention, Recurrent infection of the gastrointestinal tract... |
ORPHA:51890 |
Loeys-Dietz Syndrome 1 |
|
Eosinophilic infiltration of the esophagus, Micrognathia, Cleft palate, Malar flattening, Retrogn... |
OMIM:609192 |
Peripheral Primitive Neuroectodermal Tumor |
|
Ascites, Torticollis, Proptosis, Lower limb muscle weakness |
ORPHA:370348 |
Loeys-Dietz Syndrome |
|
Micrognathia, Orofacial cleft, High palate, Malar flattening, Bifid uvula |
ORPHA:60030 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Narrow mouth, Bifid uvula, Cleft palate, Micrognathia |
OMIM:130070 |
Wolf-Hirschhorn Syndrome |
|
Rieger anomaly, Decreased muscle mass, Hypertelorism, Ectopia pupillae, Proptosis, Iris coloboma |
OMIM:194190 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Difficulty in tongue movements, Tongue atrophy, Ptosis |
ORPHA:99956 |
Bohring-Opitz Syndrome |
|
Retinal atrophy, Facial hypotonia, Hypertelorism, Optic atrophy, Bilateral wrist flexion contract... |
ORPHA:97297 |
Cousin Syndrome |
|
Micrognathia, Alveolar ridge overgrowth, Cleft palate, Narrow palpebral fissure, Blepharophimosis... |
OMIM:260660 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Microretrognathia, Cleft palate, Feeding difficulties, Upslanted palpebral fissure, Downturned co... |
ORPHA:488642 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Cranial nerve compression, Proptosis, Optic nerve compression |
OMIM:131300 |
Spondyloepiphyseal Dysplasia Congenita |
|
Glossoptosis, Cleft palate, Micrognathia |
ORPHA:94068 |
Melnick-Needles Syndrome |
|
Proptosis, Hypertelorism |
ORPHA:2484 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Abnormality iris morphology, Hypertelorism |
ORPHA:91387 |
Distal Deletion 9P |
|
Proptosis, Hypertelorism |
ORPHA:1642 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Telecanthus, Hamartoma of tongue, Micrognathia, Cleft lip, Supern... |
OMIM:615948 |
Thyroid Ectopia |
|
Macroglossia, Constipation, Abdominal distention |
ORPHA:95712 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Highly arched eyebrow, Micrognathia, Gastrostomy tube feeding in infanc... |
ORPHA:444077 |
Microphthalmia, Syndromic 5 |
|
Microcornea, Coloboma, Cataract, Short stature |
OMIM:610125 |
Yunis-Varon Syndrome |
|
Cataract, Polyhydramnios, Sclerocornea, Hypertelorism, Increased nuchal translucency, Bilateral m... |
ORPHA:3472 |
Charcot-Marie-Tooth Disease Type 1F |
|
Restless legs, Tongue atrophy |
ORPHA:101085 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death, Abdominal distention, Microcolon |
OMIM:619362 |
Pfeiffer Syndrome Type 1 |
|
Proptosis, Hypertelorism |
ORPHA:93258 |
Pachyonychia Congenita 3 |
|
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue |
OMIM:615726 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Proptosis, Flexion contracture |
OMIM:215150 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Severe postnatal growth retardation, Coloboma, Conjunctival hyperemia |
ORPHA:2399 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Proptosis, Flexion contracture, Ectopia lentis |
OMIM:271640 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Restlessness, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudob... |
ORPHA:79276 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Death in infancy, Intestinal malrotation, Hypoperistalsis, Abdominal distent... |
ORPHA:2241 |
Distal Deletion 15Q |
|
Thin upper lip vermilion, Micrognathia, Abnormality of the dentition, Cleft palate, Upslanted pal... |
ORPHA:1596 |
Congenital Myopathy 17 |
|
Polyhydramnios, Myopathy, Distal arthrogryposis, Proptosis, Diaphragmatic eventration |
OMIM:618975 |
Neonatal Marfan Syndrome |
|
Iridodonesis, Ectopia lentis, Flexion contracture, Deeply set eye, Megalocornea |
ORPHA:284979 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Rhabdomyosarcoma, Hypertelorism, Retinal vascular proliferation, Schwa... |
ORPHA:97685 |
Digeorge Syndrome |
|
Micrognathia, High, narrow palate, Cleft palate, High palate, Short philtrum, Recurrent sinusitis... |
OMIM:188400 |
Fibrochondrogenesis |
|
Proptosis, Camptodactyly of finger, Hypertelorism |
ORPHA:2021 |
Marcus-Gunn Syndrome |
|
Postnatal growth retardation, Coloboma |
ORPHA:91412 |
Peritoneal Cystic Mesothelioma |
|
Abdominal distention, Peritonitis, Constipation, Abdominal pain |
ORPHA:168816 |
Pontocerebellar Hypoplasia, Type 10 |
|
Proptosis, Limb hypertonia |
OMIM:615803 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Proptosis, Flexion contracture |
OMIM:608612 |
14Q22Q23 Microdeletion Syndrome |
|
Anophthalmia, Optic nerve aplasia, Proptosis, Hypertelorism |
ORPHA:264200 |
Cole-Carpenter Syndrome 1 |
|
Proptosis, Shallow orbits |
OMIM:112240 |
Schimke Immuno-Osseous Dysplasia |
|
Abdominal distention, Abnormal primary molar morphology, Abnormal intestine morphology, Hypodonti... |
ORPHA:1830 |
Marbach-Rustad Progeroid Syndrome |
|
Proptosis, Shallow orbits |
OMIM:619322 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Polyhydramnios, Elbow flexion contracture, Deeply set eye, Proptosis, Distal lower limb muscle we... |
ORPHA:508533 |
Familial Infantile Myoclonic Epilepsy |
|
Proptosis |
ORPHA:352582 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Hypertelorism, Shallow orbits, Proptosis, Camptodactyly, Joint contracture of the hand |
OMIM:182212 |
Microsporidiosis |
|
Sinusitis, Anorexia, Abdominal pain, Peritonitis, Chronic diarrhea, Keratoconjunctivitis, Vomitin... |
ORPHA:2552 |
Robinow Syndrome |
|
Dental crowding, Persistence of primary teeth, Micrognathia, Dental malocclusion, Marked delay in... |
ORPHA:97360 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Camptodactyly of finger, Flexion contracture, Elbow flexion contracture,... |
OMIM:256040 |
Folinic Acid-Responsive Seizures |
|
Abdominal distention |
ORPHA:79097 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Gastrointestinal dysmotility, Widely s... |
ORPHA:2152 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Abdominal distention |
ORPHA:369 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Proptosis, Flexion contracture, Camptodactyly |
OMIM:207410 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Short philtrum, Abnormal repetitive ma... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Abdominal distention, Submuco... |
OMIM:235730 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Joint contracture, Proptosis |
OMIM:615349 |
Osteopetrosis, Autosomal Recessive 7 |
|
Proptosis, Optic atrophy, Optic nerve compression |
OMIM:612301 |
Okamoto Syndrome |
|
Oligohydramnios, Astigmatism, Proptosis, Hypertelorism |
ORPHA:2729 |
Marfan Syndrome |
|
Retinal detachment, Decreased muscle mass, Cataract, Ectopia lentis, Microspherophakia, Flexion c... |
OMIM:154700 |
Restrictive Dermopathy |
|
Natal tooth, Telecanthus, Entropion, Micrognathia, Sparse eyebrow, Submucous cleft hard palate, T... |
ORPHA:1662 |
Baller-Gerold Syndrome |
|
Hypertelorism, Proptosis, Hypotelorism |
ORPHA:1225 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Deeply set eye, Proptosis, Hypertelorism |
OMIM:300966 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal distention, V... |
OMIM:613070 |
Pfeiffer Syndrome Type 2 |
|
Proptosis, Hypertelorism |
ORPHA:93259 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Abdominal distention, Chronic diarrhea, Upslanted palpebral fissure, Vo... |
OMIM:620233 |
Microphthalmia, Syndromic 6 |
|
Micrognathia, Orbital cyst, Cleft palate, High palate, Microglossia, Retrognathia, Bifid uvula |
OMIM:607932 |
Dysostosis Multiplex, Ain-Naz Type |
|
Abdominal distention |
OMIM:619345 |
Pycnodysostosis |
|
Proptosis |
ORPHA:763 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Short philtrum, Abnormal repetitive ma... |
ORPHA:261552 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Decreased muscle mass, Nonimmune hydrops fetalis, Polyhydramnios, Hypertelorism,... |
OMIM:208150 |
Pediatric Systemic Lupus Erythematosus |
|
Abdominal pain, Abdominal distention, Diarrhea, Oral ulcer, Vomiting |
ORPHA:93552 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Nausea, Ptosis |
ORPHA:100085 |
Cirrhosis, Familial |
|
Abdominal distention, Fulminant hepatitis, Esophageal varix |
OMIM:215600 |
Marfan Syndrome |
|
Retinal detachment, Skeletal muscle atrophy, Flat cornea, Ectopia lentis, Lens luxation, Hypoplas... |
ORPHA:558 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, Bifid uvula, Sparse eyebrow, Wi... |
OMIM:601803 |
Pfeiffer Syndrome Type 3 |
|
Proptosis, Hypertelorism |
ORPHA:93260 |
Rubinstein-Taybi Syndrome 1 |
|
Cataract, Polyhydramnios, Hypertelorism, Flexion contracture, Deeply set eye, Proptosis |
OMIM:180849 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Proptosis |
ORPHA:85184 |
Shprintzen-Goldberg Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Proptosis, Camptodactyly of finger, Hyperte... |
ORPHA:2462 |
Kawasaki Disease |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Cheilitis, Conjunctivitis, Glossitis, Ptosis |
ORPHA:2331 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Abdominal distention, Rectal atresia, Narrow mouth, Cryptophthalmos, Anal... |
OMIM:617666 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Oral mucosal blisters, Feeding difficulties, Smooth tongue, Enamel hypoplasia, Gastrostomy tube f... |
ORPHA:79396 |
Generalized Pustular Psoriasis |
|
Geographic tongue, Cheilitis |
ORPHA:247353 |
Campomelic Dysplasia |
|
Proptosis, Hypertelorism |
ORPHA:140 |
X-Linked Intellectual Disability, Snyder Type |
|
Decreased muscle mass, Hypertelorism, Proptosis, Camptodactyly, Cerebral edema |
ORPHA:3063 |
Plague |
|
Chapped lip, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Enterocolitis, Bloody diarrhea, Inf... |
ORPHA:707 |
Xylt1-Cdg |
|
Proptosis |
ORPHA:370930 |
Acrocardiofacial Syndrome |
|
Proptosis, Camptodactyly of finger, Hypertelorism |
ORPHA:2008 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Lacrimal duct stenosis, Micrognathia, Abnormality of the dentition, Cleft ... |
OMIM:151050 |
Roberts-Sc Phocomelia Syndrome |
|
Cataract, Corneal opacity, Polyhydramnios, Hypertelorism, Ankle flexion contracture, Elbow flexio... |
OMIM:268300 |
Pallister-Hall Syndrome |
|
Natal tooth, Cleft upper lip, Cleft palate, Anteriorly placed anus, Neonatal death, Microglossia,... |
OMIM:146510 |
Cole-Carpenter Syndrome |
|
Proptosis |
ORPHA:2050 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis, Steatorrhea,... |
ORPHA:309031 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Proptosis, Hypertelorism |
ORPHA:457395 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Abdominal distention, Gastroesophageal reflux, Death in infancy, Feeding difficulties |
OMIM:620275 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Proptosis, Camptodactyly |
ORPHA:228426 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Abdominal distention, Abnormal tongue morphology, Diarrhea, Constipation, ... |
ORPHA:653 |
Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Diarrh... |
ORPHA:275761 |
Atelosteogenesis, Type I |
|
Proptosis, Polyhydramnios, Hypertelorism |
OMIM:108720 |
X-Linked Acrogigantism |
|
Diastema, Abdominal distention, Polyphagia |
ORPHA:300373 |
Aneurysm-Osteoarthritis Syndrome |
|
Dental malocclusion, Cleft palate, High palate, Malar flattening, Retrognathia, Bifid uvula |
ORPHA:284984 |
Wiedemann-Rautenstrauch Syndrome |
|
Cataract, Hypertelorism, Flexion contracture, Hypotelorism, Deeply set eye, Proptosis, Generalize... |
OMIM:264090 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Proptosis |
ORPHA:90154 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Flexion contracture, Elbow flexion contracture, Proptosis, Camptodactyly |
OMIM:248370 |
Pallister-Hall Syndrome |
|
Microretrognathia, Natal tooth, Accessory oral frenulum, Cleft lip, Paroxysmal bursts of laughter... |
ORPHA:672 |
Letterer-Siwe Disease |
|
Stomatitis, Abdominal distention |
OMIM:246400 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Abdominal distention, Death in infancy, Death in childhood |
OMIM:619423 |
Sepsis In Premature Infants |
|
Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, Functional abnormali... |
ORPHA:90051 |
Fraser Syndrome |
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Death in infancy, Anal stenosis, Dental crowding, Cleft upper lip, Dental malocclusion, Orofacial... |
ORPHA:2052 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Symblepharon, Trichiasis, Oral mucosal blisters, Intestinal perforation, Anorexia, Oral-pharyngea... |
ORPHA:95455 |
Glucose-Galactose Malabsorption |
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Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting |
ORPHA:35710 |
Meckel Syndrome, Type 1 |
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Smooth philtrum, Natal tooth, Thin upper lip vermilion, Intestinal malrotation, Micrognathia, Cle... |
OMIM:249000 |
Short Stature With Microcephaly And Distinctive Facies |
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Proptosis |
OMIM:615789 |
Mirizzi Syndrome |
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Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Vomiting, Nausea |
ORPHA:521219 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Microglossia |
OMIM:263520 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Erosion of oral mucosa, Anal fissure, Oral mucosal blisters, Carious teeth, Malnutrition, Dysphag... |
ORPHA:79408 |
Meckel Syndrome 14 |
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Microretrognathia, Micrognathia, Abdominal distention, Protuberant abdomen, Retrognathia |
OMIM:619879 |
Noonan Syndrome |
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Lymphedema, Aplasia/Hypoplasia of the abdominal wall musculature, Proptosis, Hypertelorism |
ORPHA:648 |
Inflammatory Pseudotumor Of The Liver |
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Abdominal distention, Vomiting, Nausea, Abdominal pain |
ORPHA:90003 |
Meningioma |
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Papilledema, Facial palsy, Neurofibroma, Upper limb muscle weakness, Proptosis, Lower limb muscle... |
ORPHA:2495 |
Charcot-Marie-Tooth Disease Type 4C |
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Difficulty in tongue movements, Tongue atrophy, Tongue fasciculations |
ORPHA:99949 |
Loeys-Dietz Syndrome 2 |
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Eosinophilic infiltration of the esophagus, Micrognathia, Cleft palate, Malar flattening, Retrogn... |
OMIM:610168 |
Beckwith-Wiedemann Syndrome |
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Diastasis recti, Congenital diaphragmatic hernia, Polyhydramnios, Rhabdomyosarcoma, Leiomyosarcom... |
ORPHA:116 |
Camurati-Engelmann Disease |
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Skeletal muscle atrophy, Facial palsy, Optic atrophy, Proptosis, Optic nerve compression |
ORPHA:1328 |
Wiedemann-Rautenstrauch Syndrome |
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Natal tooth, Thin upper lip vermilion, Entropion, Lagophthalmos, Abnormality of the dentition, Sy... |
ORPHA:3455 |
Nestor-Guillermo Progeria Syndrome |
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Proptosis, Flexion contracture |
OMIM:614008 |
Ogden Syndrome |
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Torticollis, Pulmonary edema, Lymphedema, Hypertelorism, Deeply set eye, Proptosis, Oligohydramnios |
OMIM:300855 |
Keppen-Lubinsky Syndrome |
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Proptosis, Flexion contracture, Polyhydramnios, Shallow orbits |
OMIM:614098 |
Erdheim-Chester Disease |
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Joint swelling, Pleural effusion, Proptosis |
ORPHA:35687 |
Gonadoblastoma |
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Abdominal distention, Abdominal pain |
ORPHA:206484 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Feeding difficulties in infancy, Macroglossia, Constipation, Abdominal distention |
OMIM:218700 |
Kosaki Overgrowth Syndrome |
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Proptosis |
OMIM:616592 |
Necrotizing Enterocolitis |
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Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting |
ORPHA:391673 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Abdominal distention, Thin vermilion border |
OMIM:602557 |
Osteoglophonic Dysplasia |
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Hypertelorism, Proptosis, Camptodactyly of finger, Shallow orbits |
OMIM:166250 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
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Proptosis, Hypertelorism |
ORPHA:2211 |
Peters Plus Syndrome |
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Cataract, Corneal opacity, Polyhydramnios, Hypertelorism, Optic atrophy, Microcornea, Peters anom... |
ORPHA:709 |
Cowden Syndrome |
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Furrowed tongue, Hamartomatous polyposis, Macroglossia, High palate, Colorectal polyposis, Conjun... |
ORPHA:201 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
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Abdominal distention, Vomiting, Congenital pyloric atresia, Oral mucosal blisters |
ORPHA:158684 |
Keppen-Lubinsky Syndrome |
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Proptosis, Flexion contracture, Polyhydramnios, Shallow orbits |
ORPHA:435628 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Absent eyebrow, Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Bloody diar... |
ORPHA:436252 |
Ovarian Fibrothecoma |
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Abdominal distention, Peritonitis, Abdominal pain |
ORPHA:314478 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Hypertelorism, Proptosis, Facial hypotonia, Shallow orbits |
ORPHA:457359 |
Currarino Syndrome |
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Anal stenosis, Perianal abscess, Gastrointestinal obstruction, Abdominal distention, Chronic cons... |
OMIM:176450 |
Gallbladder Neuroendocrine Tumor |
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Abdominal distention, Nausea, Anorexia, Episodic abdominal pain |
ORPHA:100086 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Stomatitis, Glossitis, Smooth philtrum, Feeding difficulties |
ORPHA:79282 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
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Fulminant hepatic failure, Abdominal distention |
OMIM:618528 |
Granulomatosis With Polyangiitis |
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Periorbital edema, Proptosis, Retinopathy |
ORPHA:900 |
Castleman Disease |
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Nausea and vomiting, Abdominal distention, Intestinal obstruction, Abdominal pain |
ORPHA:160 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Epicanthus, Micrognathia, Cleft upper lip, Esophageal atresia, Abdominal distention, Ectopic anus... |
ORPHA:93271 |
Vascular Ehlers-Danlos Syndrome |
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Keratoconus, Hypertelorism, Abnormal pupil morphology, Aplasia/Hypoplasia of the abdominal wall m... |
ORPHA:286 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
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Proptosis |
ORPHA:93315 |
Loeys-Dietz Syndrome 3 |
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Cataract, Hypertelorism, Proptosis, Camptodactyly, Left ventricular hypertrophy |
OMIM:613795 |
Hereditary Fructose Intolerance |
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Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... |
ORPHA:469 |
Hyperthyroidism, Nonautoimmune |
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Proptosis |
OMIM:609152 |
Schinzel-Giedion Syndrome |
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Aganglionic megacolon, Hypertelorism, Macroglossia, Proptosis, Shallow orbits, Camptodactyly |
ORPHA:798 |
Isolated Exencephaly |
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Proptosis, Polyhydramnios |
ORPHA:563612 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Proptosis, Oligohydramnios, Congenital diaphragmatic hernia, Hypertelorism |
OMIM:614437 |
Familial Gestational Hyperthyroidism |
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Proptosis |
ORPHA:99819 |
Fanconi-Bickel Syndrome |
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Abdominal distention, Poor appetite, Malabsorption |
OMIM:227810 |
Wilson Disease |
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Acute hepatic failure, Abdominal distention, Esophageal varix, Vomiting, Dysphagia, Hepatic failure |
OMIM:277900 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Proptosis |
ORPHA:424 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
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Abdominal distention, Hypoperistalsis |
OMIM:619365 |
Idiopathic Hypereosinophilic Syndrome |
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Abdominal pain, Feeding difficulties in infancy, Malabsorption, Abdominal distention, Chronic dia... |
ORPHA:3260 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
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Proptosis, Hypertelorism |
OMIM:617011 |
Osteogenesis Imperfecta, Type Viii |
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Proptosis |
OMIM:610915 |
Pyknoachondrogenesis |
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Craniofacial hyperostosis, Abnormality of mouth shape, Palpebral edema, Abdominal distention |
ORPHA:3003 |
Meier-Gorlin Syndrome 7 |
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Proptosis |
OMIM:617063 |
Pseudoaminopterin Syndrome |
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Posterolateral diaphragmatic hernia, Proptosis, Hypertelorism |
ORPHA:221120 |
Hutchinson-Gilford Progeria Syndrome |
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Delayed eruption of teeth, Absent eyebrow, Dental crowding, Short lingual frenulum, Nocturnal lag... |
ORPHA:740 |
Primary Biliary Cholangitis |
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Celiac disease, Abdominal distention, Hepatic failure, Gastrointestinal inflammation |
ORPHA:186 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
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Proptosis |
ORPHA:85199 |
Polyembryoma |
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Abdominal distention, Abdominal pain |
ORPHA:180229 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Left ventricular hypertrophy, Proptosis, Flexion contracture, Shallow orbits |
OMIM:619127 |
Stüve-Wiedemann Syndrome |
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Feeding difficulties in infancy, Trismus, Smooth tongue, Abnormality of the dentition |
ORPHA:3206 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Proptosis |
ORPHA:163979 |
Melnick-Needles Syndrome |
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Proptosis, Hypertelorism |
OMIM:309350 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Hip contracture, Shoulder flexion contracture, Flexion contracture, Elbow flexion contracture, Kn... |
OMIM:210710 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
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Tongue atrophy |
ORPHA:466768 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
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Abdominal distention, Peritonitis, Microcolon, Ileal atresia |
OMIM:619351 |
Focal Dermal Hypoplasia |
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Anophthalmia, Diastasis recti, Congenital diaphragmatic hernia, Ectopia lentis, Optic atrophy, Ch... |
OMIM:305600 |
Ovarian Hyperstimulation Syndrome |
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Nausea and vomiting, Abdominal distention, Nausea, Abdominal pain |
ORPHA:64739 |
Yunis-Varon Syndrome |
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Cataract, Polyhydramnios, Sclerocornea, Hypertelorism, Hydrops fetalis, Proptosis |
OMIM:216340 |
Proximal Renal Tubular Acidosis |
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Cataract, Mild postnatal growth retardation, Short stature, Band keratopathy, Growth delay, Coloboma |
ORPHA:47159 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Abdominal distention, Anal atresia |
OMIM:271520 |
Craniosynostosis And Dental Anomalies |
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Papilledema, Proptosis, Hypertelorism |
OMIM:614188 |
Fanconi-Bickel Syndrome |
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Abdominal distention, Hepatic failure |
ORPHA:2088 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Mandibular prognathia, Exaggerated median tongue furrow, Epicanthus, Intestinal malrotation, Subm... |
OMIM:312870 |
Williams Syndrome |
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Flat cornea, Corneal opacity, Cataract, Periorbital edema, Retinal arteriolar tortuosity, Increas... |
ORPHA:904 |
Specc1L-Related Hypertelorism Syndrome |
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Proptosis, Hypertelorism |
ORPHA:1519 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Micrognathia, Supernumerary tooth, Gastroesophageal reflux, Vomiting, Ankyloglossia |
OMIM:619525 |
Pancreatoblastoma |
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Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:677 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
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Knee flexion contracture, Proptosis, Elbow flexion contracture, Hypertelorism |
OMIM:271665 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
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Acute hepatic failure, Reye syndrome-like episodes, Diarrhea, Abdominal distention, Vomiting, Hep... |
OMIM:256810 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Feeding difficulties in infancy, Abdominal distention |
ORPHA:309256 |
Beckwith-Wiedemann Syndrome |
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Macroglossia, Proptosis, Diastasis recti |
OMIM:130650 |
Liver Disease, Severe Congenital |
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Chronic gastritis, Epicanthus, Micrognathia, Abdominal distention, Diarrhea, Malnutrition, Depend... |
OMIM:619991 |
Tropical Endomyocardial Fibrosis |
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Myocardial calcification, Pedal edema, Peripheral edema, Proptosis, Ascites |
ORPHA:75565 |
Diarrhea 1, Secretory Chloride, Congenital |
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Abdominal distention, Secretory diarrhea |
OMIM:214700 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Abdominal distention |
ORPHA:93352 |
Hereditary Spherocytosis |
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Abdominal distention, Abdominal pain |
ORPHA:822 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Hypertelorism, Proptosis, Camptodactyly, Joint contracture of the hand, Oligohydramnios |
OMIM:201750 |
Leprechaunism |
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Abdominal distention, Rectal prolapse, Thick vermilion border, Megarectum |
ORPHA:508 |
Metachromatic Leukodystrophy, Adult Form |
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Abdominal distention, Bowel incontinence |
ORPHA:309271 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abdominal distention |
ORPHA:309263 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Abdominal distention, Hepatic failure, Death in infancy |
OMIM:617156 |
Osteogenesis Imperfecta, Type Vii |
|
Proptosis |
OMIM:610682 |
Lymphatic Malformation 7 |
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Abdominal distention |
OMIM:617300 |
Carney Complex |
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Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Abnormal hard palate morpho... |
ORPHA:1359 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Abdominal distention, Esophageal varix, Upslanted palpebral fissure, Everted lower lip vermilion,... |
OMIM:619534 |
Kasabach-Merritt Syndrome |
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Abdominal distention, Abdominal pain |
ORPHA:2330 |
Atresia Of Urethra |
|
Abdominal distention |
ORPHA:105 |
Eisenmenger Syndrome |
|
Abdominal distention |
ORPHA:97214 |