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Gene: Foxf2 MGI:1347479

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
forkhead box F2
Synonyms:
Fkh20,  FREAC2,  LUN

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Foxf2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Foxf2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Death in infancy, Anal stenosis, Dental crowding, Cleft upper lip, Dental malocclusion, Orofacial... ORPHA:2052
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Symblepharon, Trichiasis, Oral mucosal blisters, Intestinal perforation, Anorexia, Oral-pharyngea... ORPHA:95455
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting ORPHA:35710
Meckel Syndrome, Type 1
Smooth philtrum, Natal tooth, Thin upper lip vermilion, Intestinal malrotation, Micrognathia, Cle... OMIM:249000
Short Stature With Microcephaly And Distinctive Facies
Proptosis OMIM:615789
Mirizzi Syndrome
Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Vomiting, Nausea ORPHA:521219
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Microglossia OMIM:263520
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Erosion of oral mucosa, Anal fissure, Oral mucosal blisters, Carious teeth, Malnutrition, Dysphag... ORPHA:79408
Meckel Syndrome 14
Microretrognathia, Micrognathia, Abdominal distention, Protuberant abdomen, Retrognathia OMIM:619879
Noonan Syndrome
Lymphedema, Aplasia/Hypoplasia of the abdominal wall musculature, Proptosis, Hypertelorism ORPHA:648
Inflammatory Pseudotumor Of The Liver
Abdominal distention, Vomiting, Nausea, Abdominal pain ORPHA:90003
Meningioma
Papilledema, Facial palsy, Neurofibroma, Upper limb muscle weakness, Proptosis, Lower limb muscle... ORPHA:2495
Charcot-Marie-Tooth Disease Type 4C
Difficulty in tongue movements, Tongue atrophy, Tongue fasciculations ORPHA:99949
Loeys-Dietz Syndrome 2
Eosinophilic infiltration of the esophagus, Micrognathia, Cleft palate, Malar flattening, Retrogn... OMIM:610168
Beckwith-Wiedemann Syndrome
Diastasis recti, Congenital diaphragmatic hernia, Polyhydramnios, Rhabdomyosarcoma, Leiomyosarcom... ORPHA:116
Camurati-Engelmann Disease
Skeletal muscle atrophy, Facial palsy, Optic atrophy, Proptosis, Optic nerve compression ORPHA:1328
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Thin upper lip vermilion, Entropion, Lagophthalmos, Abnormality of the dentition, Sy... ORPHA:3455
Nestor-Guillermo Progeria Syndrome
Proptosis, Flexion contracture OMIM:614008
Ogden Syndrome
Torticollis, Pulmonary edema, Lymphedema, Hypertelorism, Deeply set eye, Proptosis, Oligohydramnios OMIM:300855
Keppen-Lubinsky Syndrome
Proptosis, Flexion contracture, Polyhydramnios, Shallow orbits OMIM:614098
Erdheim-Chester Disease
Joint swelling, Pleural effusion, Proptosis ORPHA:35687
Gonadoblastoma
Abdominal distention, Abdominal pain ORPHA:206484
Hypothyroidism, Congenital, Nongoitrous, 2
Feeding difficulties in infancy, Macroglossia, Constipation, Abdominal distention OMIM:218700
Kosaki Overgrowth Syndrome
Proptosis OMIM:616592
Necrotizing Enterocolitis
Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting ORPHA:391673
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention, Thin vermilion border OMIM:602557
Osteoglophonic Dysplasia
Hypertelorism, Proptosis, Camptodactyly of finger, Shallow orbits OMIM:166250
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Proptosis, Hypertelorism ORPHA:2211
Peters Plus Syndrome
Cataract, Corneal opacity, Polyhydramnios, Hypertelorism, Optic atrophy, Microcornea, Peters anom... ORPHA:709
Cowden Syndrome
Furrowed tongue, Hamartomatous polyposis, Macroglossia, High palate, Colorectal polyposis, Conjun... ORPHA:201
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abdominal distention, Vomiting, Congenital pyloric atresia, Oral mucosal blisters ORPHA:158684
Keppen-Lubinsky Syndrome
Proptosis, Flexion contracture, Polyhydramnios, Shallow orbits ORPHA:435628
Combined Immunodeficiency-Enteropathy Spectrum
Absent eyebrow, Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Bloody diar... ORPHA:436252
Ovarian Fibrothecoma
Abdominal distention, Peritonitis, Abdominal pain ORPHA:314478
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Hypertelorism, Proptosis, Facial hypotonia, Shallow orbits ORPHA:457359
Currarino Syndrome
Anal stenosis, Perianal abscess, Gastrointestinal obstruction, Abdominal distention, Chronic cons... OMIM:176450
Gallbladder Neuroendocrine Tumor
Abdominal distention, Nausea, Anorexia, Episodic abdominal pain ORPHA:100086
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Stomatitis, Glossitis, Smooth philtrum, Feeding difficulties ORPHA:79282
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Abdominal distention OMIM:618528
Granulomatosis With Polyangiitis
Periorbital edema, Proptosis, Retinopathy ORPHA:900
Castleman Disease
Nausea and vomiting, Abdominal distention, Intestinal obstruction, Abdominal pain ORPHA:160
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Epicanthus, Micrognathia, Cleft upper lip, Esophageal atresia, Abdominal distention, Ectopic anus... ORPHA:93271
Vascular Ehlers-Danlos Syndrome
Keratoconus, Hypertelorism, Abnormal pupil morphology, Aplasia/Hypoplasia of the abdominal wall m... ORPHA:286
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Proptosis ORPHA:93315
Loeys-Dietz Syndrome 3
Cataract, Hypertelorism, Proptosis, Camptodactyly, Left ventricular hypertrophy OMIM:613795
Hereditary Fructose Intolerance
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... ORPHA:469
Hyperthyroidism, Nonautoimmune
Proptosis OMIM:609152
Schinzel-Giedion Syndrome
Aganglionic megacolon, Hypertelorism, Macroglossia, Proptosis, Shallow orbits, Camptodactyly ORPHA:798
Isolated Exencephaly
Proptosis, Polyhydramnios ORPHA:563612
Cutis Laxa, Autosomal Recessive, Type Ib
Proptosis, Oligohydramnios, Congenital diaphragmatic hernia, Hypertelorism OMIM:614437
Familial Gestational Hyperthyroidism
Proptosis ORPHA:99819
Fanconi-Bickel Syndrome
Abdominal distention, Poor appetite, Malabsorption OMIM:227810
Wilson Disease
Acute hepatic failure, Abdominal distention, Esophageal varix, Vomiting, Dysphagia, Hepatic failure OMIM:277900
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Proptosis ORPHA:424
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Abdominal distention, Hypoperistalsis OMIM:619365
Idiopathic Hypereosinophilic Syndrome
Abdominal pain, Feeding difficulties in infancy, Malabsorption, Abdominal distention, Chronic dia... ORPHA:3260
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Proptosis, Hypertelorism OMIM:617011
Osteogenesis Imperfecta, Type Viii
Proptosis OMIM:610915
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormality of mouth shape, Palpebral edema, Abdominal distention ORPHA:3003
Meier-Gorlin Syndrome 7
Proptosis OMIM:617063
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Proptosis, Hypertelorism ORPHA:221120
Hutchinson-Gilford Progeria Syndrome
Delayed eruption of teeth, Absent eyebrow, Dental crowding, Short lingual frenulum, Nocturnal lag... ORPHA:740
Primary Biliary Cholangitis
Celiac disease, Abdominal distention, Hepatic failure, Gastrointestinal inflammation ORPHA:186
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Proptosis ORPHA:85199
Polyembryoma
Abdominal distention, Abdominal pain ORPHA:180229
Mandibuloacral Dysplasia Progeroid Syndrome
Left ventricular hypertrophy, Proptosis, Flexion contracture, Shallow orbits OMIM:619127
Stüve-Wiedemann Syndrome
Feeding difficulties in infancy, Trismus, Smooth tongue, Abnormality of the dentition ORPHA:3206
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Proptosis ORPHA:163979
Melnick-Needles Syndrome
Proptosis, Hypertelorism OMIM:309350
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Shoulder flexion contracture, Flexion contracture, Elbow flexion contracture, Kn... OMIM:210710
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue atrophy ORPHA:466768
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Abdominal distention, Peritonitis, Microcolon, Ileal atresia OMIM:619351
Focal Dermal Hypoplasia
Anophthalmia, Diastasis recti, Congenital diaphragmatic hernia, Ectopia lentis, Optic atrophy, Ch... OMIM:305600
Ovarian Hyperstimulation Syndrome
Nausea and vomiting, Abdominal distention, Nausea, Abdominal pain ORPHA:64739
Yunis-Varon Syndrome
Cataract, Polyhydramnios, Sclerocornea, Hypertelorism, Hydrops fetalis, Proptosis OMIM:216340
Proximal Renal Tubular Acidosis
Cataract, Mild postnatal growth retardation, Short stature, Band keratopathy, Growth delay, Coloboma ORPHA:47159
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Abdominal distention, Anal atresia OMIM:271520
Craniosynostosis And Dental Anomalies
Papilledema, Proptosis, Hypertelorism OMIM:614188
Fanconi-Bickel Syndrome
Abdominal distention, Hepatic failure ORPHA:2088
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Exaggerated median tongue furrow, Epicanthus, Intestinal malrotation, Subm... OMIM:312870
Williams Syndrome
Flat cornea, Corneal opacity, Cataract, Periorbital edema, Retinal arteriolar tortuosity, Increas... ORPHA:904
Specc1L-Related Hypertelorism Syndrome
Proptosis, Hypertelorism ORPHA:1519
Congenital Disorder Of Glycosylation, Type Iiw
Micrognathia, Supernumerary tooth, Gastroesophageal reflux, Vomiting, Ankyloglossia OMIM:619525
Pancreatoblastoma
Abdominal distention, Diarrhea, Vomiting, Abdominal pain ORPHA:677
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Knee flexion contracture, Proptosis, Elbow flexion contracture, Hypertelorism OMIM:271665
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Reye syndrome-like episodes, Diarrhea, Abdominal distention, Vomiting, Hep... OMIM:256810
Metachromatic Leukodystrophy, Late Infantile Form
Feeding difficulties in infancy, Abdominal distention ORPHA:309256
Beckwith-Wiedemann Syndrome
Macroglossia, Proptosis, Diastasis recti OMIM:130650
Liver Disease, Severe Congenital
Chronic gastritis, Epicanthus, Micrognathia, Abdominal distention, Diarrhea, Malnutrition, Depend... OMIM:619991
Tropical Endomyocardial Fibrosis
Myocardial calcification, Pedal edema, Peripheral edema, Proptosis, Ascites ORPHA:75565
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Secretory diarrhea OMIM:214700
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention ORPHA:93352
Hereditary Spherocytosis
Abdominal distention, Abdominal pain ORPHA:822
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hypertelorism, Proptosis, Camptodactyly, Joint contracture of the hand, Oligohydramnios OMIM:201750
Leprechaunism
Abdominal distention, Rectal prolapse, Thick vermilion border, Megarectum ORPHA:508
Metachromatic Leukodystrophy, Adult Form
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
Abdominal distention OMIM:617300
Carney Complex
Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Abnormal hard palate morpho... ORPHA:1359
Biliary, Renal, Neurologic, And Skeletal Syndrome
Abdominal distention, Esophageal varix, Upslanted palpebral fissure, Everted lower lip vermilion,... OMIM:619534
Kasabach-Merritt Syndrome
Abdominal distention, Abdominal pain ORPHA:2330
Atresia Of Urethra
Abdominal distention ORPHA:105
Eisenmenger Syndrome
Abdominal distention ORPHA:97214

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Foxf2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Foxf2.

No publications found that use IMPC mice or data for Foxf2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Foxf2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Foxf2tm413267(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Foxf2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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