Not currently registered for phenotyping at IMPC

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

Gene Summary

forkhead box F2
FREAC2,  Fkh20,  LUN

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Nasal regurgitation, Dysphagia, Ptosis, Velopharyngeal insufficiency OMIM:617732
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... 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
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate, Feeding difficulties in infancy, Micrognathia OMIM:261800
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Proptosis, Cataract, Microcornea, Microphthalmia, Optic atrophy, Retinopathy, Op... OMIM:616171
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Cleft Velum
Oral-pharyngeal dysphagia, Nasal regurgitation, Cleft soft palate, Poor suck, Velopharyngeal insu... ORPHA:99772
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Pierson Syndrome
Hypoplasia of the ciliary body, Posterior lenticonus, Microcoria, Hypoplasia of the iris, Edema OMIM:609049
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Abnormal retinal vascular ... ORPHA:190
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Chromosome 22Q11.2 Duplication Syndrome
Epicanthus, Downslanted palpebral fissures, High palate, Micrognathia, Velopharyngeal insufficiency OMIM:608363
Cleft Lip/Palate
Poor suck, Agenesis of lateral incisor, Malnutrition, Feeding difficulties in infancy, Hypoplasia... ORPHA:199306
Isolated Pierre Robin Syndrome
Micrognathia, Glossoptosis, Cleft palate ORPHA:718
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Developmental cataract, Retinal atrophy OMIM:616722
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Micrognathia, Glossoptosis, Cleft palate OMIM:311895
Adducted Thumbs Syndrome
Dysphagia, Cleft palate, High palate, High, narrow palate, Velopharyngeal insufficiency OMIM:201550
Proptosis, Recurrent corneal erosions OMIM:148800
Orofacial Cleft 13
Oligodontia, Cleft soft palate, Retrognathia, Micrognathia, Malar flattening OMIM:613857
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Robin Sequence-Oligodactyly Syndrome
Micrognathia, Glossoptosis, Abnormality of the dentition, Cleft palate ORPHA:3104
Cleft palate OMIM:119550
Geographic And Fissured Tongue
Furrowed tongue, Geographic tongue OMIM:137400
Intermediate Uveitis
Macular scar, Vitreous haze, Cystoid macular edema, Vitreous snowballs, Epiretinal membrane, Opti... ORPHA:279914
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma, Microphthalmia, Anophthalmia OMIM:616428
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Idiopathic Anterior Uveitis
Nuclear cataract, Posterior subcapsular cataract, Increased cup-to-disc ratio, Posterior synechia... ORPHA:280914
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Remnants of the hyaloid vas... OMIM:221900
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Auriculocondylar Syndrome 3
Bifid uvula, Retrognathia, Micrognathia, Glossoptosis OMIM:615706
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Microcornea, Iris coloboma, Anterior synechiae of the anterior chamber ORPHA:3214
Idiopathic Panuveitis
Vitreous haze, Cystoid macular edema, Choroidal neovascularization, Vitreous snowballs, Epiretina... ORPHA:280921
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal dysplasia, Opacification of t... OMIM:310600
Distal Monosomy 6P
Abnormal anterior chamber morphology, Hypertelorism, Posterior embryotoxon, Corneal opacity, Hypo... ORPHA:96125
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Bencze Syndrome
Open bite, Upslanted palpebral fissure, Telecanthus, Submucous cleft hard palate ORPHA:1241
Joint Laxity, Short Stature, And Myopia
Chorioretinal coloboma, Iris coloboma, Retinal detachment, Proptosis OMIM:617662
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Unilateral microphthalmos, Optic disc hypoplasia, Aplasia/Hypoplasia of t... ORPHA:137902
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Cataract, Microphthalm... OMIM:212550
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Macular hypoplasia, Microcornea,... OMIM:610202
Neovascular Glaucoma
Retinal vein occlusion, Abnormal posterior eye segment morphology, Iris neovascularization, Abnor... ORPHA:94058
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Cleft palate OMIM:258320
Childhood Apraxia Of Speech
Drooling, Feeding difficulties, Horizontal eyebrow, High, narrow palate, Submucous cleft hard palate ORPHA:209908
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ... ORPHA:364055
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Retinal detachment, Vitreous hemorrhage, Abnormal fundus mo... ORPHA:39044
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cleft palate, Ankyloblepharon, Non-midline cleft lip, Tooth agenesis ORPHA:1074
Axial Spondylometaphyseal Dysplasia
Hypertelorism, Proptosis, Astigmatism, Optic atrophy, Rod-cone dystrophy ORPHA:168549
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Iris coloboma, Retinal dystrophy, Microcornea OMIM:615147
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Blepharophimosis, Everted lower lip vermilion, Oral synechia, Cleft palate, Microgn... ORPHA:2016
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Micrognathia, Cleft palate OMIM:172880
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cataract, Proptosis ORPHA:85172
Uvula, Bifid
Bifid uvula OMIM:192100
Anterior Segment Dysgenesis 3
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Ectopia pupillae, Peters anomaly, Abnorm... OMIM:601631
Oculocutaneous Albinism Type 6
Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Abnormal iris pigmentation... ORPHA:370097
Cleft Soft Palate
Cleft soft palate OMIM:119570
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Downturned corners of ... ORPHA:884
Axenfeld-Rieger Syndrome, Type 3
Hypertelorism, Posterior embryotoxon, Proptosis, Hypoplasia of the iris, Ectopia pupillae OMIM:602482
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Ankyloblepharon, Cleft upper lip, Cleft palate OMIM:106250
Dilution, Pigmentary
Hypopigmentation of the fundus, Iris hypopigmentation OMIM:126070
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Parc Syndrome
Microretrognathia, Absent eyelashes, Absent eyebrow, Cleft palate OMIM:600331
Horner Syndrome, Congenital
Deeply set eye, Congenital Horner syndrome, Heterochromia iridis OMIM:143000
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Iris pigment dispersion, Pigment deposition in the trabecular meshwor... ORPHA:69736
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Iris hypopigmentation, Choroideremia, Retinal nonattachment ORPHA:99000
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Proptosis ORPHA:2370
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Birk-Barel Syndrome
Highly arched eyebrow, Short philtrum, Microretrognathia, Dysphagia, Submucous cleft soft palate,... OMIM:612292
Catel-Manzke Syndrome
Highly arched eyebrow, Cleft palate, Glossoptosis, Oral synechia, Micrognathia, Malar flattening ORPHA:1388
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Albinism, Oculocutaneous, Type Iv
Macular hypoplasia, Blue irides, Hypopigmentation of the fundus OMIM:606574
Isolated Aniridia
Aniridia, Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula ORPHA:250923
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Cataract, Retinal detachment, Proptosis ORPHA:90653
Auriculocondylar Syndrome 2
Narrow mouth, Dental crowding, Micrognathia, Mandibular condyle aplasia, Cleft palate, Glossoptos... OMIM:614669
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Cleft palate, Bifid uvula, Retrognathia, Micrognathia, Submucous cleft har... ORPHA:2521
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis, Retinal detachment OMIM:225200
Cataract, Iris coloboma ORPHA:79326
Whistling Face Syndrome, Recessive Form
Long philtrum, Narrow mouth, Blepharophimosis, Epicanthus, Trismus, Microglossia, Short palpebral... OMIM:277720
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Microcornea, Iris coloboma OMIM:601706
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Peroxisome Biogenesis Disorder 8A (Zellweger)
Feeding difficulties in infancy, Death in infancy, Glossoptosis OMIM:614876
2Q24 Microdeletion Syndrome
Cataract, Hypertelorism, Abnormality iris morphology, Microphthalmia ORPHA:1617
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Edict Syndrome
Keratoconus, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism OMIM:614303
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Van Der Woude Syndrome 2
Cleft palate, Cleft upper lip, Anodontia OMIM:606713
Donnai-Barrow Syndrome
Hypertelorism, Iris coloboma, Proptosis, Retinal dystrophy, Retinal detachment ORPHA:2143
Satb2-Associated Syndrome Due To A Pathogenic Variant
Long philtrum, Drooling, Dysphagia, Gastroesophageal reflux, Smooth philtrum, Abnormality of the ... ORPHA:576283
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Downslanted palpebral fissures, Submucous cleft... OMIM:192445
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Microphthalmia, Progressive cataract OMIM:604219
Exfoliation Syndrome
Retinal vein occlusion, Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Iris... OMIM:177650
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Dysphagia, Tongue atrophy ORPHA:496689
Van Der Woude Syndrome 1
Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia OMIM:119540
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Micropht... ORPHA:1473
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cataract, Optic atrophy, Proptosis OMIM:617481
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Glossoptosis, Cleft palate, Micrognathia, Malar flattening ORPHA:166100
Autosomal Dominant Keratitis
Aniridia, Bilateral microphthalmos, Macular hypoplasia, Cataract, Keratitis, Microcornea, Opacifi... ORPHA:2334
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Arthrogryposis, Distal, Type 1C
Pursed lips, Thin vermilion border, Narrow mouth, Blepharophimosis, Cleft lip, Cleft palate, Bifi... OMIM:619110
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Peripheral dysmyelination, Abnormal pupil morphology, Decreased ner... ORPHA:101082
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Tonne-Kalscheuer Syndrome
Narrow mouth, Downturned corners of mouth, Feeding difficulties, Dysphagia, Downslanted palpebral... OMIM:300978
Juvenile Glaucoma
Retinal vein occlusion, Abnormality iris morphology, Temporal optic disc pallor, Abnormality of t... ORPHA:98977
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Horner syndrome, Blepharophimosis, Short mandibular rami, Dental maloc... OMIM:141300
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypertelorism, Rieger anomaly, Proptosis, Abnormal auditory evoked potentials, Abnormally promine... OMIM:109120
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Microspherophakia, Deep anterior chamber, Iridodonesis, Megalocornea OMIM:251750
Amoebic Keratitis
Decreased corneal sensation, Abnormal posterior eye segment morphology, Abnormal corneal epitheli... ORPHA:67043
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Cleft palate OMIM:618768
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Coloboma OMIM:251505
Crouzon Disease
Hypertelorism, Iris coloboma, Proptosis, Conjunctivitis, Optic atrophy ORPHA:207
Orofaciodigital Syndrome V
Aganglionic megacolon, Lobulated tongue, Cleft palate, Bifid uvula, Median cleft lip OMIM:174300
Mucopolysaccharidosis, Type Ix
Bifid uvula, Submucous cleft hard palate OMIM:601492
Heterochromia Iridis
Asymmetry of iris pigmentation, Heterochromia iridis OMIM:142500
Buratti-Harel Syndrome
Gastroesophageal reflux, Sparse medial eyebrow, Epicanthus, Ptosis, Bifid uvula, High palate, Dow... OMIM:619314
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis OMIM:613195
Burn-Mckeown Syndrome
Thin vermilion border, Short philtrum, Narrow mouth, Blepharophimosis, Mandibular prognathia, Low... OMIM:608572
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Biemond Syndrome Ii
Iris coloboma OMIM:210350
Brachycephaly, Trichomegaly, And Developmental Delay
Highly arched eyebrow, Thin vermilion border, Open mouth, Epicanthus, Long eyelashes, Synophrys, ... OMIM:617412
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Vitamin K Antagonist Embryofetopathy
Hypertelorism, Proptosis, Cataract, Optic atrophy, Aplasia/Hypoplasia affecting the eye ORPHA:1914
Hereditary Angioedema Type 1
Intestinal edema, Abnormal soft palate morphology, Abdominal pain, Dysphagia, Nausea, Vomiting, D... ORPHA:100050
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Hypertrichosis-Acromegaloid Facial Appearance Syndrome
Blepharophimosis, Palpebral edema, Everted lower lip vermilion, Thick vermilion border, Furrowed ... ORPHA:966
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Bifid uvula, High palate, Downslanted palpebral fissures, Median cleft lip OMIM:155145
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Iris coloboma OMIM:613702
Hartnup Disorder
Glossitis OMIM:234500
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Bifid uvula, Cleft palate ORPHA:506353
Woolly Hair
Cataract, Abnormal retinal morphology, Abnormal pupil morphology ORPHA:170
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia, Micrognathia, Malar flattening, Hypoplasia of the maxilla OMIM:241310
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Megalocornea, Hypertelorism, Proptosis OMIM:618354
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Optic atrophy, Proptosis ORPHA:184
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Dental crowding, Upslanted palpebral fissure, Abnormality of the dentition, Thin u... OMIM:616331
Zimmermann-Laband Syndrome 3
Long eyelashes, Synophrys, Thick eyebrow, Gingival overgrowth, Bifid uvula, High palate, Thick lo... OMIM:618658
Donnai-Barrow Syndrome
Hypertelorism, Iris coloboma, Proptosis, Retinal dystrophy, Hypoplasia of the iris, Cataract, Ret... OMIM:222448
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal macular morphology, Ocular albinism, Astigmatism, Abnormal pupil ... ORPHA:54
Coffin-Siris Syndrome 11
Downturned corners of mouth, Wide mouth, Esophageal atresia, Bifid uvula, High palate, Feeding di... OMIM:618779
Carey-Fineman-Ziter Syndrome
Feeding difficulties, Pierre-Robin sequence, Dysphagia, Gastroesophageal reflux, Epicanthus, Tris... OMIM:254940
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Hypertelorism, Corneal opacity, Proptosis OMIM:618961
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Kleefstra Syndrome 2
Bifid uvula, Everted lower lip vermilion, Thick eyebrow OMIM:617768
Aniridia 2
Cataract, Aniridia OMIM:617141
Auriculocondylar Syndrome
Narrow mouth, Difficulty in tongue movements, Dental crowding, Feeding difficulties, Mandibular c... ORPHA:137888
Rapp-Hodgkin Syndrome
Narrow mouth, Small, conical teeth, Hypoplasia of the maxilla, Hypodontia, Bifid uvula, Ptosis, C... OMIM:129400
Plummer-Vinson Syndrome
Glossitis, Narrow mouth, Abdominal pain, Dysphagia, Intra-oral hyperpigmentation, Cheilitis, Geop... ORPHA:54028
Stickler Syndrome, Type Ii
Pierre-Robin sequence, Cleft palate, Bifid uvula, High, narrow palate, Micrognathia, Malar flatte... OMIM:604841
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Dental crowding, Hypoplasia of the maxilla, Everted lower lip ... OMIM:616367
Griscelli Syndrome Type 3
Iris hypopigmentation ORPHA:79478
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Volvulus Of Midgut
Constipation, Intestinal malrotation, Long palpebral fissure, Abdominal distention, Volvulus, Tel... OMIM:193250
Wyburn-Mason Syndrome
Retinal vascular malformation, Iris hypopigmentation, Proptosis ORPHA:53719
Hypoglossia With Situs Inversus
Malnutrition, Narrow mouth, Hypodontia, Microglossia, High palate, Feeding difficulties in infanc... OMIM:612776
Trisomy 12P
Aplasia/Hypoplasia affecting the eye, Aplasia/Hypoplasia of the iris, Proptosis, Hypertelorism ORPHA:1699
Temple Syndrome
Nasogastric tube feeding, Polyphagia, Feeding difficulties, Bifid uvula, Feeding difficulties in ... ORPHA:254516
Puerto Rican Infant Hypotonia Syndrome
Long philtrum, Narrow palate, Drooling, Open mouth, Constipation, Chronic constipation, High pala... OMIM:600096
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Open mouth, Mandibular prognathia, Smooth philtrum, Protruding tongue OMIM:618732
Smith-Magenis Syndrome
Mandibular prognathia, Constipation, Abnormality of the dentition, Synophrys, Oral cleft, Malar f... OMIM:182290
Lipoid Proteinosis
Tongue nodules, Dysphagia, Microglossia, Abnormal oral mucosa morphology, Abnormality of the ging... ORPHA:530
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Abnormality of the philtrum, Agenesis of canine, Agan... ORPHA:2919
Iris Hypoplasia With Glaucoma
Hypoplasia of the iris, Iris atrophy OMIM:308500
Auriculocondylar Syndrome 1
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, Anterior open-bite maloc... OMIM:602483
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Distal Monosomy 17Q
Upslanted palpebral fissure, Narrow mouth, Abnormality of the philtrum, Aplasia/Hypoplasia of the... ORPHA:1597
Pai Syndrome
Downslanted palpebral fissures, Cleft palate, Abnormal oral frenulum morphology, Bifid uvula, Tel... ORPHA:1993
Mesomelia-Synostoses Syndrome
Long philtrum, Abnormal eyebrow morphology, Narrow mouth, Aplasia/Hypoplasia of the uvula, Ptosis... ORPHA:2496
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Feeding difficulties, Submucous cleft hard palate OMIM:619239
Temple Syndrome
Short philtrum, Feeding difficulties, Cleft palate, Bifid uvula, High palate, Micrognathia OMIM:616222
Schilbach-Rott Syndrome
Narrow mouth, Blepharophimosis, Upslanted palpebral fissure, Epicanthus, Bifid uvula, Micrognathi... OMIM:164220
Wagr Syndrome
Cataract, Aplasia/Hypoplasia of the iris ORPHA:893
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue, Ptosis ORPHA:2743
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Ectopia lentis, Iris coloboma, Palpebral edema ORPHA:1259
Juvenile Xanthogranuloma
Asymmetry of iris pigmentation, Uveitis, Iritis, Proptosis ORPHA:158000
Burning Mouth Syndrome
Tongue pain, Parageusia, Xerostomia, Abnormality of the gingiva, Abnormality of taste sensation, ... ORPHA:353253
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short philtrum, Tooth malposition, Everted lower lip vermilion, Furrowed tongue, High palate, Fee... ORPHA:1387
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Hypodontia, Glossoptosis, High, narrow palate, Abnormality of the mandible, Submucous cleft hard ... ORPHA:3201
Dwarfism, Mental Retardation, And Eye Abnormality
Hypoplasia of the iris, Nuclear cataract OMIM:223540
Facioscapulohumeral Muscular Dystrophy 1
Dysphagia, Tongue atrophy OMIM:158900
Gillespie Syndrome
Hypoplasia of the iris, Aniridia OMIM:206700
Congenital Disorder Of Glycosylation, Type Ii
Cataract, Coloboma OMIM:607906
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Atypical Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Tongue atrophy ORPHA:216873
Robinow Syndrome, Autosomal Recessive 2
Long philtrum, Abnormality of the dentition, Long eyelashes, Triangular mouth, Gingival overgrowt... OMIM:618529
Agnathia-Otocephaly Complex
Mandibular aplasia, Narrow mouth, Aglossia, Microglossia, Cleft palate, Downslanted palpebral fis... OMIM:202650
Pontocerebellar Hypoplasia Type 10
Optic atrophy, Proptosis ORPHA:411493
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract, Hypoplasia of the retina, Retinal dystrophy OMIM:263100
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Smooth philtrum, Downslanted palpebral fissures, Cleft soft palate, Micrognathia OMIM:614526
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae, Microphthalmia OMIM:156900
Hec Syndrome
Polyhydramnios, Developmental cataract, Abnormal pupil morphology, Abnormal retinal vascular morp... ORPHA:2119
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Downslanted palpebral fissures, Protruding tongue, Macroglossia OMIM:227250
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia ORPHA:1065
Microphthalmia, Isolated, With Coloboma 9
Hypertelorism, Iris coloboma, Ocular anterior segment dysgenesis, Microcornea, Microphthalmia, Sc... OMIM:615145
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract, M... ORPHA:290
Acquired Hypertrichosis Lanuginosa
Macroglossia, Abnormal eyebrow morphology, Glossitis, Abnormal eyelid morphology, Chronic diarrhe... ORPHA:2221
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Highly arched eyebrow, Thin vermilion border, Short philtrum, Deep philtrum, Mandibular prognathi... OMIM:618622
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Retinal coloboma, Chorioretinal coloboma, Iris coloboma ORPHA:2921
W Syndrome
Agenesis of maxillary central incisor, Upper lip pit, Broad uvula, Downslanted palpebral fissures... ORPHA:2804
8Q22.1 Microdeletion Syndrome
Long philtrum, Highly arched eyebrow, Blepharophimosis, Sparse eyelashes, Hypoplasia of the maxil... ORPHA:178303
Isolated Brachycephaly
Hypertelorism, Proptosis ORPHA:35099
Faciocardiomelic Dysplasia, Lethal
Narrow mouth, Neonatal death, Microglossia, Retrognathia, Micrognathia OMIM:227270
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Macular agenesis, Chorioretinal hypopig... OMIM:106210
Chops Syndrome
Cataract, Optic atrophy, Hypertelorism, Proptosis OMIM:616368
Lethal Omphalocele-Cleft Palate Syndrome
Unilateral cleft lip, Cleft palate, Bifid uvula, Cleft soft palate, Retrognathia ORPHA:2736
Oculofaciocardiodental Syndrome
Long philtrum, Oligodontia, Delayed eruption of teeth, Tooth malposition, Highly arched eyebrow, ... ORPHA:2712
Amish Lethal Microcephaly
Cleft soft palate, Micrognathia, Death in infancy, Feeding difficulties ORPHA:99742
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Short philtrum, Mandibular prognathia, Thick upper lip vermilion, Abnormality of the dentition, T... OMIM:226440
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology, Nausea ORPHA:97230
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Cataract, Optically empty vitreous, Retinal dots, Corneal g... OMIM:193230
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma OMIM:206750
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Macroglossia, Constipation, Abdominal distention, Feeding difficulties ORPHA:95713
Microcephaly 3, Primary, Autosomal Recessive
Proptosis OMIM:604804
Axenfeld-Rieger Syndrome
Abnormal anterior chamber morphology, Posterior embryotoxon, Aplasia/Hypoplasia of the iris, Hype... ORPHA:782
Tetralogy Of Fallot
Proptosis OMIM:187500
Orofaciodigital Syndrome Vi
Tongue nodules, Epicanthus, Cleft upper lip, Cleft palate, High palate, Micrognathia, Accessory o... OMIM:277170
Zimmermann-Laband Syndrome
Macroglossia, Gingival fibromatosis, Wide mouth, Long eyelashes, Hypodontia, Anterior open-bite m... ORPHA:3473
Meckel Syndrome, Type 8
Abdominal distention, Cleft upper lip, Cleft palate OMIM:613885
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Glossoptosis, Feeding difficulties, Cleft palate OMIM:618356
Saul-Wilson Syndrome
Cataract, Proptosis OMIM:618150
Polyhydramnios, Hypertelorism, Iris coloboma, Microcornea, Abnormal pupil morphology ORPHA:3374
Pallister W Syndrome
Agenesis of central incisor, Agenesis of maxillary central incisor, Broad uvula, Downslanted palp... OMIM:311450
Pallister-Hall-Like Syndrome
Death in infancy, Microglossia, Cleft palate, Micrognathia, Median cleft lip OMIM:241800
Microphthalmia, Isolated, With Coloboma 7
Coloboma OMIM:614497
Crouzon Syndrome
Hypertelorism, Proptosis, Conjunctivitis, Keratitis, Shallow orbits, Optic atrophy OMIM:123500
Orofaciodigital Syndrome Iii
Tongue nodules, Bifid tongue, Supernumerary tooth, Bifid uvula, Microdontia OMIM:258850
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Iris coloboma, Lens subluxation OMIM:216820
Cinca Syndrome
Lymphedema, Papilledema, Uveitis, Proptosis OMIM:607115
Bifid Uvula
Bifid uvula, Submucous cleft soft palate, Cleft lip ORPHA:99771
Chromosome 5P13 Duplication Syndrome
Astigmatism, Hypotelorism, Hypertelorism, Proptosis OMIM:613174
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia OMIM:257910
Limb-Mammary Syndrome
Bifid uvula, Cleft palate, Lacrimal duct atresia, Hypodontia OMIM:603543
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Smooth philtrum, Intestinal pseudo-obstruction, Vomiting, Increased size ... OMIM:300048
Colonic Atresia
Abdominal distention, Colonic atresia OMIM:303650
Thyroid Hemiagenesis
Macroglossia, Constipation, Abdominal distention ORPHA:95719
Humero-Radial Synostosis
Chorioretinal coloboma, Aplasia/Hypoplasia affecting the eye, Iris coloboma ORPHA:3265
D-Lactic Aciduria With Gout
Aniridia OMIM:245450
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Chromosome 15Q14 Deletion Syndrome
Highly arched eyebrow, Short philtrum, Everted lower lip vermilion, Tented upper lip vermilion, C... OMIM:616898
Deafness-Craniofacial Syndrome
Short philtrum, Abnormal palate morphology, Upslanted palpebral fissure, Abnormality of the denti... ORPHA:3241
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Epicanthus, Smooth philtrum, Abnormality of the dentition, Thick upper lip vermili... ORPHA:363444
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... ORPHA:83461
Angelman Syndrome Due To A Point Mutation
Drooling, Feeding difficulties, Dysphagia, Mandibular prognathia, Wide mouth, Abnormal eating beh... ORPHA:411511
Cardiocranial Syndrome, Pfeiffer Type
Temporomandibular joint ankylosis, High, narrow palate, Bifid uvula, Broad philtrum, Micrognathia... ORPHA:2872
Mcdonough Syndrome
Short philtrum, Upslanted palpebral fissure, Mandibular prognathia, Synophrys, Furrowed tongue, P... OMIM:248950
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Long philtrum, Highly arched eyebrow, Downturned corners of mouth, Blepharophimosis, Feeding diff... ORPHA:404440
Cree Mental Retardation Syndrome
Downslanted palpebral fissures, Cleft soft palate, Ptosis, Micrognathia OMIM:606851
Moebius Syndrome
Open mouth, Feeding difficulties in infancy, Dysphagia, Everted lower lip vermilion, Death in inf... ORPHA:570
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Abnormality of the tongue, Intestinal malrotation, Bilateral cleft lip and palate, Cleft upper li... OMIM:601165
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma ORPHA:139450
Gms Syndrome
Rieger anomaly ORPHA:2090
Dubowitz Syndrome
Delayed eruption of teeth, Carious teeth, Agenesis of permanent teeth, Blepharophimosis, Gastroes... OMIM:223370
Orofaciodigital Syndrome Iv
Tongue nodules, Hamartoma of tongue, Epicanthus, Lobulated tongue, Cleft palate, High palate, Mic... OMIM:258860
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Aganglionic megacolon, Abnormal pupil morphology ORPHA:2151
Gastric Cancer, Hereditary Diffuse
Stomach cancer, Chronic atrophic gastritis, Cleft upper lip, Cleft palate OMIM:137215
Arthrogryposis, Distal, Type 3
Epicanthus, Ptosis, Cleft palate, Bifid uvula, High palate, Micrognathia, Submucous cleft hard pa... OMIM:114300
Filippi Syndrome
Optic atrophy, Proptosis OMIM:272440
Tubulointerstitial Nephritis And Uveitis Syndrome
Abnormality of retinal pigmentation, Panuveitis, Intermediate uveitis, Papilledema, Choroidal neo... ORPHA:91500
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Downslanted palpebral fissures, Exaggerated median tongue ... OMIM:300602
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Feeding difficulties, Dysphagia, Mandibular prognathia, Wide mouth, Protruding tongue, Poor suck,... ORPHA:98795
Herpes Simplex Virus Stromal Keratitis
Descemet Membrane Folds, Decreased corneal sensation, Corneal perforation, Deep anterior chamber,... ORPHA:137599
Abnormality of retinal pigmentation, Heterochromia iridis, Retinal calcification, Subretinal pigm... ORPHA:790
Hypoglossia-Hypodactyly Syndrome
Narrow mouth, Death in infancy, Aplasia/Hypoplasia of the tongue, Jejunal atresia, Hypodontia, An... ORPHA:989
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short philtrum, Narrow mouth, Feeding difficulties, Micrognathia, Cleft palate, Bifid uvula, High... ORPHA:96184
Acromegaloid Facial Appearance Syndrome
Abnormality of the tongue, Highly arched eyebrow, Macroglossia, Blepharophimosis, Palpebral edema... ORPHA:965
Waardenburg Syndrome, Type 2A
Heterochromia iridis, Hypoplastic iris stroma OMIM:193510
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Vertebral Hypersegmentation And Orofacial Anomalies
Epicanthus, Unilateral cleft lip, Micrognathia, Unilateral cleft palate, Submucous cleft hard palate OMIM:619122
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Proptosis OMIM:601420
Protuberant abdomen, Abnormality of the mouth, Epicanthus ORPHA:221054
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Upslanted palpebral fissure, Diastema, Mandibular prognathia, Smooth philtrum, Thin upper lip ver... OMIM:300534
Tetraamelia Syndrome 2
Ankyloglossia, Microretrognathia, Glossoptosis, Micrognathia, Bilateral cleft lip OMIM:618021
Trisomy 13
Hydrops fetalis, Hypotelorism, Deeply set eye, Iris coloboma, Aplasia/Hypoplasia of the iris, Cat... ORPHA:3378
Kniest Dysplasia
Cataract, Retinal detachment, Proptosis OMIM:156550
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Macroglossia, Wide mouth, Bifid uvula, High palate, Microdontia, Widely spaced teeth, Accessory o... OMIM:266920
Branchiogenic-Deafness Syndrome
Branchial fistula, Branchial cyst, Trismus, Submucous cleft hard palate OMIM:609166
Tetralogy Of Fallot
Proptosis ORPHA:3303
Multiple Synostoses Syndrome 3
Proptosis OMIM:612961
Moebius Syndrome
Dysphagia, Epicanthus, Abnormality of the dentition, Congenital fibrosis of extraocular muscles, ... OMIM:157900
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Malnutrition, Abdominal pain, Constipation, Abdominal distention, Malabsorption, Gastrointestinal... OMIM:613662
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Epicanthus, Vomiting, Diarrhea, Bifid uvula, High palate OMIM:601110
9q subtelomeric deletion syndrome
Protruding tongue, Synophrys DECIPHER:52
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Short Syndrome
Hypertelorism, Deeply set eye, Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Me... ORPHA:3163
Cronkhite-Canada Syndrome
Abdominal pain, Anorexia, Furrowed tongue, Stomach cancer, Intestinal polyposis, Diarrhea, Aplasi... ORPHA:2930
Spinocerebellar Ataxia 36
Dysphagia, Tongue fasciculations, Ptosis, Tongue atrophy OMIM:614153
Microcephaly 5, Primary, Autosomal Recessive
Proptosis OMIM:608716
Qazi-Markouizos Syndrome
Drooling, Hypoplasia of teeth, Open mouth, Broad philtrum, Chronic constipation, High, narrow pal... ORPHA:3010
Lelis Syndrome
Carious teeth, Abnormality of the mouth, Upslanted palpebral fissure, Mandibular prognathia, Hypo... ORPHA:140936
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Upslanted palpebral fissure, Intestinal malrotation, Bilateral cleft lip and palate, Bifid tongue... ORPHA:2001
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Downslanted palpebral fissures, Exaggerated median tongue ... OMIM:300431
Shashi-Pena Syndrome
Hypertelorism, Proptosis OMIM:617190
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Retinal detachment OMIM:219250
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Almond-shaped palpebral fissure, Mandibular prognathia, Wide mouth, Unilateral cleft lip, Epiblep... OMIM:619103
Frontofacionasal Dysplasia
Blepharophimosis, Ankyloblepharon, Oral cleft, Ptosis, Telecanthus, Cleft upper lip, Eyelid colob... OMIM:229400
Rhizomelic Syndrome, Urbach Type
Abnormality of the tongue, Wide anterior fontanel, Cleft palate, High palate, Micrognathia ORPHA:3098
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Iris coloboma, Coloboma, Short stature OMIM:610023
Mohr Syndrome
Accessory oral frenulum, Agenesis of central incisor, Tongue nodules, Bifid tongue, Lobulated ton... OMIM:252100
Orofaciodigital Syndrome Type 2
Talon cusp, Agenesis of central incisor, Hypoplasia of teeth, Taurodontia, Tongue nodules, Natal ... ORPHA:2751
Anisocoria OMIM:106240
Trisomy 8Q
Everted lower lip vermilion, Upslanted palpebral fissure, Non-midline cleft lip, Oral cleft, Bifi... ORPHA:1752
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Carey-Fineman-Ziter Syndrome
Long philtrum, Thin vermilion border, Pierre-Robin sequence, Aplasia/Hypoplasia of the tongue, Ep... ORPHA:1358
Gingival cleft, Unilateral cleft lip, Cleft palate, Bifid uvula, Retrognathia, Micrognathia, Subm... ORPHA:2189
Spinocerebellar Ataxia Type 36
Dysphagia, Bowel incontinence, Ptosis, Tongue fasciculations, Tongue atrophy ORPHA:276198
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Epicanthus, Protruding tongue, Diarrhea, Sinusitis, Micrognathia, Malar flattening,... OMIM:242860
Isolated Cleft Lip
Macrodontia, Non-midline cleft lip, Hypodontia, Supernumerary maxillary incisor, Velopharyngeal i... ORPHA:199302
Kniest Dysplasia
Lens luxation, Lattice retinal degeneration, Proptosis, Degenerative vitreoretinopathy, Cataract,... ORPHA:485
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bifid uvula, Cleft upper lip, Cleft palate OMIM:300958
Orofaciodigital Syndrome Xv
Lobulated tongue OMIM:617127
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Proptosis OMIM:618492
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Sparse eyelashes, Submucous cleft s... ORPHA:1071
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Arthrogryposis, Distal, Type 5D
Highly arched eyebrow, Furrowed tongue, Ptosis, Cleft palate, Micrognathia OMIM:615065
Megalocornea-Mental Retardation Syndrome
Long philtrum, Dysphagia, Epicanthus, Bifid uvula, High palate, Micrognathia, Downslanted palpebr... OMIM:249310
Atresia Of Small Intestine
Feeding difficulties, Intestinal hypoplasia, Intestinal malrotation, Jejunal atresia, Vomiting, A... ORPHA:1201
Craniosynostosis 2
Cleft soft palate, Supernumerary tooth OMIM:604757
1Q41Q42 Microdeletion Syndrome
Upslanted palpebral fissure, Thick vermilion border, Submucous cleft hard palate, Cleft palate ORPHA:250999
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Drooling, Feeding difficulties, Dysphagia, Mandibular prognathia, Constipation, Wide mouth, Abnor... ORPHA:98794
Isolated Split Hand-Split Foot Malformation
Aniridia ORPHA:2440
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Epicanthus, Retrognathia, Cleft palate, Bifid uvula, Facial hyperostos... ORPHA:2780
Narrow mouth, Aglossia, Epicanthus, Microglossia, Retrognathia, Micrognathia OMIM:103300
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Ankyloblepharon, Non-midline cleft lip, Lip pit ORPHA:1072
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Chondrodysplasia-Disorder Of Sex Development Syndrome
Hypoplasia of the iris, Chorioretinal coloboma, Deeply set eye ORPHA:1422
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Hypodontia, Bifid uvula, High palate, Dental malocclusion, Downslanted... OMIM:612350
Hypomandibular Faciocranial Dysostosis
Narrow mouth, Upslanted palpebral fissure, Death in infancy, Aplasia/Hypoplasia of the tongue, Cl... ORPHA:1790
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Agenesis of permanent teeth, Aplasia/Hypoplasia of the eyebrow, Epicanthus, Short lingual frenulu... OMIM:614091
Isolated Cloverleaf Skull Syndrome
Proptosis ORPHA:2343
Marshall Syndrome
Hypertelorism, Abnormal vitreous humor morphology, Ectopia lentis, Proptosis, Cataract, Vitreoret... ORPHA:560
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue ORPHA:2928
Loeys-Dietz Syndrome 4
Ptosis, Broad uvula, Retrognathia, Bifid uvula, High palate, High, narrow palate, Downslanted pal... OMIM:614816
Emanuel Syndrome
Long philtrum, Delayed eruption of teeth, Tooth malposition, Feeding difficulties, Dental crowdin... ORPHA:96170
Treacher Collins Syndrome 1
Lacrimal duct stenosis, Narrow mouth, Upper eyelid coloboma, Lower eyelid coloboma, Wide mouth, A... OMIM:154500
Optic Pathway Glioma
Optic atrophy, Papilledema, Neurofibromas, Proptosis ORPHA:2086
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Microphthalmia, Sclerocornea, Anophthalmia OMIM:615877
Pontocerebellar Hypoplasia, Type 3
Optic atrophy, Proptosis OMIM:608027
Diamond-Blackfan Anemia 6
Cleft upper lip, Cleft palate, Bifid uvula, Retrognathia, Micrognathia OMIM:612561
Congenital Muscular Dystrophy With Cerebellar Involvement
Abnormality iris morphology, Cataract, Megalocornea, Optic nerve hypoplasia, Microphthalmia, Reti... ORPHA:370959
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Macroglossia, Protruding tongue, Cleft palate, Bifid uvula, Retrognathia OMIM:612938
9Q21.13 Microdeletion Syndrome
Abnormal tongue morphology, Downturned corners of mouth, Ptosis, Long palpebral fissure, Gastroin... ORPHA:531151
Developmental And Epileptic Encephalopathy 80
Long philtrum, Feeding difficulties, Upslanted palpebral fissure, Death in infancy, Wide mouth, S... OMIM:618580
Pontocerebellar Hypoplasia, Type 1B
Tongue fasciculations, Feeding difficulties, Tongue atrophy OMIM:614678
Lethal Osteosclerotic Bone Dysplasia
Proptosis ORPHA:1832
Immunodeficiency 10
Hypoplasia of the iris OMIM:612783
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the mouth, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Epicanth... ORPHA:2759
Achondrogenesis, Type Ii
Abdominal distention, Stillbirth, Cleft palate OMIM:200610
Congenital Sucrase-Isomaltase Deficiency
Vomiting, Abdominal colic, Diarrhea, Abdominal distention ORPHA:35122
Cri-Du-Chat Syndrome
Short philtrum, Downturned corners of mouth, Microretrognathia, Gastroesophageal reflux, Epicanth... OMIM:123450
Developmental And Speech Delay Due To Sox5 Deficiency
Hyperplasia of the maxilla, Narrow palate, Feeding difficulties, Dental crowding, Gastroesophagea... ORPHA:313892
Velocardiofacial Syndrome
Open mouth, Blepharophimosis, Pierre-Robin sequence, Narrow palpebral fissure, Cleft palate, Retr... OMIM:192430
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Long philtrum, Wide anterior fontanel, Chronic diarrhea, Thin upper lip vermilion, Downslanted pa... ORPHA:457279
Acrodermatitis Enteropathica
Abnormality of the tongue, Poor appetite, Abnormal eyebrow morphology, Glossitis, Abnormal eyelid... ORPHA:37
Gms Syndrome
Rieger anomaly OMIM:138770
Facial Spasm
Anisocoria OMIM:134300
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Ectopia lentis, Microphthalmia OMIM:601552
Double Outlet Right Ventricle
Narrow mouth, Feeding difficulties, Narrow palpebral fissure, Intestinal malrotation, Cleft palat... ORPHA:3426
Distal Limb Deficiencies-Micrognathia Syndrome
Narrow mouth, Microretrognathia, Microglossia, Cleft palate, High palate, Microdontia, Hypoplasia... ORPHA:1307
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastrointestinal dysmotility, Abnormality of the extraocular muscles, Small intestinal dysmotilit... ORPHA:298
Myhre Syndrome
Thin vermilion border, Narrow mouth, Blepharophimosis, Hypoplasia of the maxilla, Craniofacial hy... ORPHA:2588
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract, Coloboma OMIM:120433
Pitt-Hopkins-Like Syndrome 2
Drooling, Feeding difficulties, Constipation, Gastroesophageal reflux, Wide mouth, Protruding tongue OMIM:614325
Limb-Mammary Syndrome
Lacrimal duct atresia, Sparse eyebrow, Chronic irritative conjunctivitis, Submucous cleft soft pa... ORPHA:69085
Trisomy 9P
Deeply set eye, Hypertelorism, Abnormal pupil morphology ORPHA:236
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Optic atrophy, Hypertelorism, Proptosis OMIM:614800
Microphthalmia, Syndromic 13
Microcornea, Coloboma, Short stature OMIM:300915
Orofaciodigital Syndrome Type 10
Long philtrum, Cleft soft palate, Retrognathia, Micrognathia, Telecanthus, Accessory oral frenulum ORPHA:2756
Abruzzo-Erickson Syndrome
Coloboma, Short stature OMIM:302905
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Oligodontia, Agenesis of central incisor, Abnormality of canine, Pierre-Robin sequence, Everted l... ORPHA:364577
Cinca Syndrome
Retrobulbar optic neuritis, Uveitis, Proptosis, Pseudopapilledema, Edema ORPHA:1451
Catel-Manzke Syndrome
Glossoptosis, Cleft upper lip, Cleft palate, High palate, Micrognathia OMIM:616145
Megalocornea-Intellectual Disability Syndrome
Hypertelorism, Hypoplasia of the iris, Iridodonesis, Megalocornea, Abnormal anterior chamber morp... ORPHA:2479
Angelman Syndrome
Macroglossia, Drooling, Mandibular prognathia, Constipation, Wide mouth, Protruding tongue, Feedi... OMIM:105830
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Short philtrum, Dental crowding, Mandibular prognathia, Cleft palate, Bifid uvula, High, narrow p... OMIM:309583
Stickler Syndrome, Type I
Pierre-Robin sequence, Cleft palate, Bifid uvula, Malar flattening, Submucous cleft hard palate OMIM:108300
Kleefstra Syndrome 1
Macroglossia, Everted lower lip vermilion, Natal tooth, Upslanted palpebral fissure, Mandibular p... OMIM:610253
Hypophosphatasia, Childhood
Proptosis OMIM:241510
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Micrognathia, Glossoptosis, Cleft palate ORPHA:440354
Nivelon-Nivelon-Mabille Syndrome
Hypoplasia of the iris OMIM:600092
X-Linked Dystonia-Parkinsonism
Protruding tongue, Blepharospasm, Impaired oropharyngeal swallow response ORPHA:53351
Developmental And Epileptic Encephalopathy 48
Rod-cone dystrophy, Optic disc pallor, Proptosis OMIM:617276
Lateral Meningocele Syndrome
Hypertelorism, Iris coloboma, Proptosis ORPHA:2789
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Narrow mouth, Dental crowding, Synophrys, Thin upper lip vermilion, Bi... OMIM:300990
Native American Myopathy
Downturned corners of mouth, Feeding difficulties, Gastroesophageal reflux, Submucous cleft soft ... ORPHA:168572
Macrophthalmia, Colobomatous, With Microcornea
Microcornea, Coloboma OMIM:602499
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Optic atrophy, Proptosis OMIM:618346
Cohen Syndrome
Short philtrum, Abnormal eyelid morphology, Open mouth, Feeding difficulties in infancy, Abnormal... ORPHA:193
Developmental And Epileptic Encephalopathy 75
Optic atrophy, Hypertelorism, Optic disc pallor, Proptosis OMIM:618437
Raine Syndrome
Enamel hypoplasia, Highly arched eyebrow, Narrow mouth, Mandibular prognathia, Natal tooth, Wide ... OMIM:259775
Aniridia ORPHA:654
Brown-Vialetto-Van Laere Syndrome 1
Dysphagia, Tongue fasciculations, Ptosis, Tongue atrophy OMIM:211530
Autosomal Recessive Centronuclear Myopathy
Bifid uvula, High palate, Retrognathia, Narrow mouth ORPHA:169186
Permanent Congenital Hypothyroidism
Macroglossia, Constipation, Abdominal distention, Feeding difficulties ORPHA:226292
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Short philtrum, Blepharophimosis, Smooth philtrum, Cleft soft palate, Retrognathia ORPHA:293725
Lowry-Maclean Syndrome
Developmental glaucoma, Megalocornea, Corneal opacity, Proptosis ORPHA:2409
Juvenile Nasopharyngeal Angiofibroma
Proptosis, Facial edema ORPHA:289596
Charcot-Marie-Tooth Disease, Type 4C
Tongue fasciculations, Tongue atrophy OMIM:601596
Down Syndrome
Macroglossia, Narrow palate, Narrow mouth, Downturned corners of mouth, Open mouth, Upslanted pal... ORPHA:870
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Hypertelorism, Proptosis ORPHA:93262
Microcephaly 26, Primary, Autosomal Dominant
Long philtrum, Feeding difficulties, Prominent eyelashes, Upslanted palpebral fissure, Protruding... OMIM:619179
Oligoarticular Juvenile Idiopathic Arthritis
Anterior chamber synechiae, Cataract, Band keratopathy, Uveitis ORPHA:85410
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Glossitis, Abdominal pain, Hematochezia, Protein-losing enteropathy, Anorexia, Xerostomia, Diarrh... OMIM:175500
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Posterior subcapsular cataract, Astigmatism, Proptosis OMIM:619234
Orofaciodigital Syndrome Type 3
Hamartoma of tongue, Abnormality of the dentition, Irregular dentition, Lobulated tongue, Bifid u... ORPHA:2752
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Death in infancy, Smooth philtrum, Protein-losing enteropathy, Thin upper lip vermilion, Abdomina... OMIM:235255
Branchioskeletogenital Syndrome
Highly arched eyebrow, Thin vermilion border, Carious teeth, Short philtrum, Downturned corners o... ORPHA:1299
Secondary Short Bowel Syndrome
Malnutrition, Polyphagia, Small intestinal dysmotility, Villous atrophy, Constipation, Aganglioni... ORPHA:95427
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Long philtrum, Macroglossia, Dental crowding, Epicanthus, Protruding tongue, Ptosis, Downslanted ... OMIM:141750
Autism Spectrum Disorder Due To Auts2 Deficiency
Hypertelorism, Proptosis ORPHA:352490
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Mandibular prognathia, Epicanthus, Hypodontia, Bifid uvula, Dens in dente, Mac... OMIM:263540
Robinow Syndrome, Autosomal Recessive 1
Long philtrum, Macroglossia, Wide anterior fontanel, Dental crowding, Long eyelashes, Thin upper ... OMIM:268310
Cenani-Lenz Syndrome
Cataract, Hypertelorism, Proptosis ORPHA:3258
Visceral Myopathy, Familial, With External Ophthalmoplegia
Malnutrition, Spontaneous esophageal perforation, Abdominal pain, Ptosis, Gastroparesis, Abdomina... OMIM:277320
Tarp Syndrome
Tongue nodules, Short palpebral fissure, Glossoptosis, Cleft palate, High palate, Micrognathia OMIM:311900
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Proptosis OMIM:608432
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Glossitis, Epicanthus, Stomatitis, Thin upper lip vermilion, High palate, Feeding difficulties in... OMIM:277380
Long philtrum, Protuberant abdomen, Epicanthus, Smooth philtrum, Synophrys, Thin upper lip vermil... OMIM:269921
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Long philtrum, Short philtrum, Highly arched eyebrow, Drooling, Downturned corners of mouth, Thin... OMIM:619121
Cap Polyposis
Abdominal pain, Hematochezia, Constipation, Chronic atrophic gastritis, Colorectal polyposis, Dia... ORPHA:160148
Achondrogenesis Type 1A
Long philtrum, Micrognathia, Abdominal distention ORPHA:93299
Mulibrey Nanism
Enamel hypoplasia, Dental crowding, Hypoplastic frontal sinuses, Hypodontia, Microglossia, Dental... OMIM:253250
Hyperphosphatasia-Intellectual Disability Syndrome
Highly arched eyebrow, Short philtrum, Downturned corners of mouth, Micrognathia, Upslanted palpe... ORPHA:247262
Mental Retardation, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Microphthalmia, Isolated 4
Coloboma OMIM:613094
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Horizontal eyebrow, Gastrostomy tube feeding in infancy, Wide mouth, Protruding tongue, Thick eye... OMIM:618797
Treacher-Collins Syndrome
Open bite, Abnormal dental enamel morphology, Narrow mouth, Rectovaginal fistula, Eyelid coloboma... ORPHA:861
Robin Sequence With Cleft Mandible And Limb Anomalies
Narrow mouth, Feeding difficulties, Pierre-Robin sequence, Cleft lower alveolar ridge, Microretro... OMIM:268305
Biemond Syndrome Type 2
Delayed puberty, Coloboma, Short stature ORPHA:141333
Acrofacial Dysostosis 1, Nager Type
Lower eyelid coloboma, Aganglionic megacolon, Wide mouth, Trismus, Sparse lower eyelashes, Cleft ... OMIM:154400
Axenfeld-Rieger Syndrome, Type 2
Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea, Hypertelorism OMIM:601499
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Craniolenticulosutural Dysplasia
Long philtrum, Carious teeth, Delayed eruption of teeth, Hypoplasia of teeth, Wide anterior fonta... OMIM:607812
Oculoectodermal Syndrome
Lymphedema, Proptosis, Opacification of the corneal stroma, Microcornea, Astigmatism, Limbal dermoid OMIM:600268
Branchiootorenal Syndrome 1
Lacrimal duct stenosis, Lacrimal duct aplasia, Branchial cyst, Branchial fistula, Intestinal malr... OMIM:113650
Hypoplastic frontal sinuses, Epicanthus, Ptosis, Bifid tongue, Cleft palate, Hypoplasia of the ma... ORPHA:391474
Hyperostosis Cranialis Interna
Optic atrophy, Facial palsy, Proptosis OMIM:144755
Angelman Syndrome
Nasogastric tube feeding, Drooling, Feeding difficulties, Polyphagia, Dysphagia, Mandibular progn... ORPHA:72
Neu-Laxova Syndrome
Abnormality of the mouth, Abnormality of the philtrum, Abnormal eyelid morphology, Everted lower ... ORPHA:2671
Ovarian Fibroma
Peritonitis, Abdominal distention, Odontogenic keratocysts of the jaw, Abdominal pain ORPHA:314473
Cardiofaciocutaneous Syndrome 1
Open bite, Absent eyelashes, Open mouth, Feeding difficulties in infancy, Palpebral thickening, D... OMIM:115150
Van Der Woude Syndrome
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... ORPHA:888
Crouzon Syndrome With Acanthosis Nigricans
Hypertelorism, Proptosis OMIM:612247
Cirrhosis, Familial
Abdominal distention, Esophageal varix OMIM:215600
Icf Syndrome
Macroglossia, Epicanthus, Protruding tongue, Micrognathia, Malabsorption ORPHA:2268
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Microglossia, Narrow mouth ORPHA:1972
Congenital Disorder Of Glycosylation, Type Iia
Thin vermilion border, Open mouth, Everted lower lip vermilion, Diastema, Wide mouth, Abnormality... OMIM:212066
Seckel Syndrome 2
Micrognathia, Microdontia, Microglossia OMIM:606744
Cerebrocostomandibular Syndrome
Long philtrum, Anal stenosis, Micrognathia, Gastroesophageal reflux, Epicanthus, Abnormality of t... OMIM:117650
Osteolysis Syndrome, Recessive
Proptosis OMIM:259610
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Chronic diarrhea, Hyperactive bowel sounds OMIM:606824
Orofaciodigital Syndrome I
Enamel hypoplasia, Carious teeth, Agenesis of permanent teeth, Tongue nodules, Microretrognathia,... OMIM:311200
Hereditary Folate Malabsorption
Glossitis, Gastroesophageal reflux, Cheilitis, Anorexia, Diarrhea, Nausea and vomiting ORPHA:90045
Dyssegmental Dysplasia, Silverman-Handmaker Type
Developmental cataract, Pterygium, Hydrops fetalis, Proptosis ORPHA:1865
Apert Syndrome
Optic atrophy, Hypertelorism, Proptosis, Corneal erosion ORPHA:87
Narrow mouth, Feeding difficulties, Intestinal malrotation, Epicanthus, Cleft palate, Bifid uvula... ORPHA:35107
Holzgreve Syndrome
Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate ORPHA:2167
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Motor axonal n... OMIM:231550
Mesomelia-Synostoses Syndrome
Downslanted palpebral fissures, Ptosis, Microretrognathia, Absent uvula OMIM:600383
Autosomal Recessive Distal Osteolysis Syndrome
Proptosis ORPHA:2776
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Macroglossia, Oligodontia, Downturned corners of mouth, Open mouth, Branchial anomaly, Constipati... ORPHA:453499
Robinow Syndrome, Autosomal Dominant 1
Narrow palate, Downturned corners of mouth, Dental crowding, Oral cleft, Triangular mouth, Downsl... OMIM:180700
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Micrognathia, Glossoptosis ORPHA:93346
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Protuberant abdomen, Constipation, Feeding difficulties in infancy, Abdominal diste... ORPHA:226313
Proteus-Like Syndrome
Heterochromia iridis, Cataract, Retinal detachment, Abnormal pupil morphology, Limbal dermoid ORPHA:2969
Nephronophthisis 11
Anisocoria, Retinal degeneration OMIM:613550
Loeys-Dietz Syndrome 5
Hiatus hernia, Smooth philtrum, Tented upper lip vermilion, Ptosis, Long palpebral fissure, Cleft... OMIM:615582
Congenital Pancreatic Cyst
Vomiting, Anorexia, Abdominal distention, Abdominal pain ORPHA:313906
Marfanoid-Progeroid-Lipodystrophy Syndrome
Oligohydramnios, Deeply set eye, Ectopia lentis, Proptosis, Keratoconjunctivitis sicca OMIM:616914
Ramos-Arroyo Syndrome
Long philtrum, Carious teeth, Narrow mouth, Dacryocystitis, Upslanted palpebral fissure, Narrow p... ORPHA:1051
Down Syndrome
Macroglossia, Upslanted palpebral fissure, Aganglionic megacolon, Epicanthus, Malar flattening, P... OMIM:190685
Congenital Disorder Of Glycosylation, Type Ih
Long philtrum, Protein-losing enteropathy, Decreased liver function, Diarrhea, Vomiting, Abdomina... OMIM:608104
Meckel Syndrome 12
Bifid uvula, Micrognathia OMIM:616258
Congenital Disorder Of Glycosylation, Type It
Bifid uvula, Micrognathia, Pierre-Robin sequence, Cleft palate OMIM:614921
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Highly arched eyebrow, Feeding difficulties, Submucous cleft soft palate, Ptosis, Cleft soft pala... ORPHA:2282
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Aniridia OMIM:194072
Waardenburg Syndrome, Type 2E
Heterochromia iridis, Ocular albinism, Hypoplasia of the iris, Hypopigmentation of the fundus, Bl... OMIM:611584
Ritscher-Schinzel Syndrome 2
Upslanted palpebral fissure, Protruding tongue, Short philtrum OMIM:300963
Myopathy, Myofibrillar, 7
Bowel incontinence, Dysphagia, Tongue atrophy OMIM:617114
Axenfeld-Rieger Syndrome, Type 1
Aniridia, Polycoria, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Megalocornea,... OMIM:180500
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Proptosis OMIM:122900
Pediatric-Onset Graves Disease
Oligohydramnios, Keratitis, Proptosis ORPHA:525731
Contractures-Developmental Delay-Pierre Robin Syndrome
Abnormality of frontal sinus, Glossoptosis, Cleft palate, Downslanted palpebral fissures, High, n... ORPHA:436003
Congenital Disorder Of Glycosylation, Type Iie
Narrow mouth, Feeding difficulties, Upslanted palpebral fissure, Gastroesophageal reflux, Smooth ... OMIM:608779
Otospondylomegaepiphyseal Dysplasia
Bifid uvula, Micrognathia, Glossoptosis, Cleft palate ORPHA:1427
Hereditary Mucoepithelial Dysplasia
Furrowed tongue, Tracheoesophageal fistula, Gingival overgrowth ORPHA:1839
Normokalemic Periodic Paralysis
Abnormality of the tongue OMIM:170600
Zellweger Syndrome
Abnormality of the tongue, Wide anterior fontanel, Micrognathia, Upslanted palpebral fissure, Pyl... ORPHA:912
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Protuberant abdomen, Carious teeth, Telecanthus, Widely spaced teeth OMIM:617102
Basel-Vanagaite-Smirin-Yosef Syndrome
Short philtrum, Sparse eyebrow, Everted lower lip vermilion, Mandibular prognathia, Epicanthus, C... ORPHA:464738
Fibrochondrogenesis 1
Megalocornea, Hydrops fetalis, Proptosis OMIM:228520
Platyspondylic Dysplasia, Torrance Type
Malar flattening, Abdominal distention, Cleft palate ORPHA:85166
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria, Cataract, Microphthalmia, Retinal detachment ORPHA:2714
Chondrodysplasia With Joint Dislocations, Gpapp Type
Proptosis OMIM:614078
Elsahy-Waters Syndrome
Long philtrum, Delayed eruption of teeth, Multiple impacted teeth, Thick lower lip vermilion, Ana... OMIM:211380
Cleidocranial Dysplasia
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Mandibula... ORPHA:1452
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Open bite, Open mouth, Downturned corners of mouth, Branchial anomaly, Nasogastric tube feeding i... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Open bite, Open mouth, Downturned corners of mouth, Branchial anomaly, Nasogastric tube feeding i... ORPHA:352665
Tolchin-Le Caignec Syndrome