Gene Summary

Name:
basonuclin 2
Synonyms:
5031434M05Rik,  8430420F16Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased cornea thickness Bnc2tm1b(KOMP)Wtsi HET Early adult 9.64×10-09
decreased exploration in new environment Bnc2tm1b(KOMP)Wtsi HET Early adult 1.28×10-06
decreased fluid intake Bnc2tm1b(KOMP)Wtsi HET Early adult 9.68×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Bnc2 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.

The table below shows human diseases associated to Bnc2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Posterior Urethral Valve
Retrognathia ORPHA:93110
Lower Urinary Tract Obstruction, Congenital
OMIM:618612

The table below shows human diseases predicted to be associated to Bnc2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate, Feeding difficulties in infancy, Micrognathia OMIM:261800
Pierre Robin Sequence With Facial And Digital Anomalies
Frontal bossing, Pierre-Robin sequence, Easily subluxated first metacarpophalangeal joints, Gloss... OMIM:311895
Corneal Endothelial Dystrophy
Increased corneal thickness, Congenital corneal dystrophy, Opacification of the corneal stroma, A... OMIM:217700
Hartsfield Syndrome
Craniosynostosis, Cleft upper lip, Cleft palate, Microcephaly, Hypoplasia of the frontal bone, Ag... OMIM:615465
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Congenital corneal dystrophy OMIM:610048
Cornea Plana 2, Autosomal Recessive
Flat cornea, Decreased corneal thickness, Corneal arcus OMIM:217300
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Frontofacionasal Dysplasia
Midface retrusion, Oral cleft, Brachycephaly, Cleft upper lip, Bifid uvula, Hypoplasia of the fro... OMIM:229400
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Isolated Exencephaly
Aplasia/Hypoplasia of the cerebellum, Abnormality of the calvaria, Abnormality of facial skeleton... ORPHA:563612
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Isolated Pierre Robin Syndrome
Micrognathia, Glossoptosis, Cleft palate ORPHA:718
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the frontal sinuses, Lipoma of corpus callosum, Cl... ORPHA:306542
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Cleft Velum
Oral-pharyngeal dysphagia, Nasal regurgitation, Cleft soft palate, Poor suck, Velopharyngeal insu... ORPHA:99772
Robin Sequence-Oligodactyly Syndrome
Micrognathia, Glossoptosis, Abnormality of the dentition, Cleft palate ORPHA:3104
Orofacial Cleft 13
Oligodontia, Cleft soft palate, Retrognathia, Micrognathia, Malar flattening OMIM:613857
Macular Corneal Dystrophy
Decreased corneal sensation, Decreased corneal thickness, Opacification of the corneal stroma, Co... ORPHA:98969
Corneal Hypesthesia, Familial
Decreased corneal sensation, Recurrent corneal erosions OMIM:122450
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Camptodactyly of finger, Mandibular prognathia, Cleft palate, Bifid uvula, Microcephaly, Retrogna... ORPHA:2521
Edict Syndrome
Keratoconus, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism OMIM:614303
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Corneal opacity, Increased corneal thickness, Corneal stromal edema, Abnor... ORPHA:293603
Adducted Thumbs Syndrome
Craniosynostosis, Dysphagia, Cerebral dysmyelination, Cleft palate, High palate, High, narrow pal... OMIM:201550
Auriculocondylar Syndrome 3
Bifid uvula, Retrognathia, Micrognathia, Glossoptosis OMIM:615706
Geographic And Fissured Tongue
Furrowed tongue, Geographic tongue OMIM:137400
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Genu valgum, Abnormality of dental morphology, Hypodontia, Alveolar pr... ORPHA:2972
Auriculocondylar Syndrome 2
Narrow mouth, Dental crowding, Micrognathia, Mandibular condyle aplasia, Cleft palate, Glossoptos... OMIM:614669
Brittle Cornea Syndrome 2
Keratoconus, Decreased corneal thickness, Keratoglobus, Megalocornea, Flat cornea, Sclerocornea OMIM:614170
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Median cleft lip and palate, Gingival fibromatosis, Large fontanelles, Delaye... ORPHA:1832
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Spastic Paraplegia 81, Autosomal Recessive
Ankle clonus, Cleft palate, Periventricular white matter hyperdensities, Bifid uvula, Microcephaly OMIM:618768
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia, Coronal craniosynostosis, Micrognathia, Malar flattening, Hypoplasia of th... OMIM:241310
Coffin-Siris Syndrome 11
Agenesis of corpus callosum, Downturned corners of mouth, Frontal bossing, Wide mouth, Esophageal... OMIM:618779
Craniosynostosis 2
Unicoronal synostosis, Craniosynostosis, Frontal bossing, Trigonocephaly, Brachycephaly, Supernum... OMIM:604757
Pycnodysostosis
Wormian bones, Delayed eruption of primary teeth, Carious teeth, Narrow palate, Absent frontal si... OMIM:265800
Arthrogryposis, Distal, Type 1C
Pursed lips, Camptodactyly of finger, Thin vermilion border, Narrow mouth, Camptodactyly of toe, ... OMIM:619110
Cleft Lip/Palate
Poor suck, Agenesis of lateral incisor, Malnutrition, Feeding difficulties in infancy, Hypoplasia... ORPHA:199306
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short philtrum, Tooth malposition, Midface retrusion, Everted lower lip vermilion, Microcephaly, ... ORPHA:1387
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Frontal bossing, Dental crowding, Midface retrusion, Thickened calvaria, Abnormali... OMIM:616331
Orofaciodigital Syndrome V
Frontal bossing, Aganglionic megacolon, Lobulated tongue, Cleft palate, Bifid uvula, Agenesis of ... OMIM:174300
Chromosome 22Q11.2 Duplication Syndrome
High palate, Micrognathia, Microcephaly, Velopharyngeal insufficiency OMIM:608363
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Abnormality of the philtrum, Frontal bossing, Agenesi... ORPHA:2919
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... OMIM:180550
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Catel-Manzke Syndrome
Camptodactyly of finger, Cleft palate, Glossoptosis, Oral synechia, Micrognathia, Malar flattening ORPHA:1388
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Malar flattening, Glossoptosis, Cleft palate, Micrognathia, Osteoarthritis ORPHA:166100
Lissencephaly, X-Linked, 2
Long philtrum, Pachygyria, Wide anterior fontanel, Long upper lip, Thin upper lip vermilion, Diar... OMIM:300215
Satb2-Associated Syndrome Due To A Pathogenic Variant
Long philtrum, Drooling, Dysphagia, Abnormal cerebral white matter morphology, Gastroesophageal r... ORPHA:576283
Kleefstra Syndrome 2
Midface retrusion, Everted lower lip vermilion, Plagiocephaly, Bifid uvula, Microcephaly OMIM:617768
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Hypodontia, Glossoptosis, Joint dislocation, Microcephaly, High, narrow ... ORPHA:3201
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Bifid uvula, Microcephaly, Ankle clonus, Cleft palate ORPHA:506353
Rhizomelic Syndrome
Microcephaly, Hip dislocation, Micrognathia, Wide anterior fontanel OMIM:268250
Temple Syndrome
Short philtrum, Frontal bossing, Feeding difficulties, Relative macrocephaly, Cleft palate, Bifid... OMIM:616222
Childhood Apraxia Of Speech
Abnormal caudate nucleus morphology, Drooling, Feeding difficulties, High, narrow palate, Caudate... ORPHA:209908
Rhizomelic Syndrome, Urbach Type
Abnormality of the tongue, Abnormality of the knee, Wide anterior fontanel, Abnormality of the el... ORPHA:3098
Stickler Syndrome, Type Ii
Midface retrusion, Pierre-Robin sequence, Cleft palate, Bifid uvula, High, narrow palate, Microgn... OMIM:604841
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Cleft palate OMIM:258320
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Mucopolysaccharidosis, Type Ix
Periarticular soft-tissue mass, Chondrocalcinosis, Acetabular erosions, Popliteal synovial cyst, ... OMIM:601492
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Wormian bones, Narrow mouth, Midface retrusion, Brachyturricephaly, Hi... OMIM:613849
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal degeneration, Corneal stromal edema, Corneal guttata, Corneal dy... OMIM:136800
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Macrocephaly, Large fontanelles, Frontal bossing, Flat occiput, Thicke... ORPHA:2780
Dyssegmental Dysplasia With Glaucoma
Wide anterior fontanel, Cleft palate, Dolichocephaly, Elbow flexion contracture, Malar flattening OMIM:601561
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Macroglossia, Craniosynostosis, Frontal bossing, Wide mouth, Scaphocephaly, Trigonocephaly, Bifid... OMIM:266920
Craniometadiaphyseal Dysplasia
Wormian bones, Carious teeth, Genu valgum, Cubitus valgus, Wide anterior fontanel, Dental crowdin... OMIM:269300
Chromosome 16Q22 Deletion Syndrome
Poor suck, Wormian bones, Wide anterior fontanel, Frontal bossing, High palate, Micrognathia, Mic... OMIM:614541
Whistling Face Syndrome, Recessive Form
Long philtrum, Narrow mouth, Midface retrusion, Micrognathia, Trismus, Microglossia, Knee flexion... OMIM:277720
Distal 17P13.1 Microdeletion Syndrome
Flat occiput, Limitation of knee mobility, Unilateral polymicrogyria, Increased overbite, Hypopla... ORPHA:319171
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Nasal regurgitation, Dysphagia, Velopharyngeal insufficiency OMIM:617732
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Amish Lethal Microcephaly
Feeding difficulties, Cerebellar vermis hypoplasia, Death in infancy, Cleft soft palate, Microgna... ORPHA:99742
Peroxisome Biogenesis Disorder 8A (Zellweger)
Feeding difficulties in infancy, Death in infancy, Glossoptosis OMIM:614876
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Bartsocas-Papas Syndrome 2
Axillary pterygium, Wide anterior fontanel, Bilateral cleft lip and palate, Prominent occiput, An... OMIM:619339
Hereditary Central Diabetes Insipidus
Polydipsia, Irritability ORPHA:30925
Auriculocondylar Syndrome 1
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, Anterior open-bite maloc... OMIM:602483
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Long philtrum, Contracture of the proximal interphalangeal joint of the 4th toe, Cavum septum pel... ORPHA:457279
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Death in infancy, Microglossia, Cleft palate, Macrocephaly, Hip dislocati... OMIM:241800
Athyreosis
Macroglossia, Feeding difficulties, Large fontanelles, Constipation, Abdominal distention ORPHA:95713
Brachycephaly, Trichomegaly, And Developmental Delay
Thin vermilion border, Open mouth, Flat occiput, Supernumerary tooth, Bifid uvula, High palate, T... OMIM:617412
Carey-Fineman-Ziter Syndrome
Hypoplasia of the brainstem, Feeding difficulties, Pierre-Robin sequence, Dysphagia, Gastroesopha... OMIM:254940
Dysostosis, Stanescu Type
Wormian bones, Macroglossia, Carious teeth, Abnormal dental enamel morphology, Midface retrusion,... ORPHA:1798
Larsen-Like Syndrome
Wide anterior fontanel, Frontal bossing, Joint dislocation, Brachycephaly, Cleft palate, Macrocep... OMIM:608545
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Uvula, Bifid
Bifid uvula OMIM:192100
Thyroid Hemiagenesis
Macroglossia, Constipation, Abdominal distention, Large fontanelles ORPHA:95719
Cleft Soft Palate
Cleft soft palate OMIM:119570
Brittle Cornea Syndrome 1
Keratoconus, Decreased corneal thickness, Abnormal cornea morphology, Keratoglobus OMIM:229200
Auriculocondylar Syndrome
Macrocephaly, Narrow mouth, Difficulty in tongue movements, Dental crowding, Feeding difficulties... ORPHA:137888
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Wide anterior fontanel, Thin calvarium, Obtuse angle of mandible, Parietal bossing... ORPHA:85184
Volvulus Of Midgut
Frontal bossing, Constipation, Intestinal malrotation, Volvulus, Abdominal distention, Neonatal i... OMIM:193250
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Wormian bones, Congenital hip dislocation, Constipation,... OMIM:614450
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Gomez-Lopez-Hernandez Syndrome
Wormian bones, Thin vermilion border, Craniosynostosis, Wide anterior fontanel, Midface retrusion... OMIM:601853
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Heart And Brain Malformation Syndrome
Camptodactyly of finger, Wide anterior fontanel, Aplasia/Hypoplasia of the corpus callosum, Globa... OMIM:616920
Spondyloepiphyseal Dysplasia, Nishimura Type
Long philtrum, Wide anterior fontanel, Downturned corners of mouth, Anterior plagiocephaly, Front... ORPHA:163649
Cleidocranial Dysplasia
Open bite, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Large fontanelles, Ma... ORPHA:1452
Temple Syndrome
Nasogastric tube feeding, Frontal bossing, Feeding difficulties, Relative macrocephaly, Bifid uvu... ORPHA:254516
Clark-Baraitser syndrome
Genu valgum, Frontal bossing, Genu recurvatum, Maxillary lateral incisor microdontia, Macrocephal... OMIM:300602
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Wormian bones, Camptodactyly of finger, Abnormality of the philtrum, T... ORPHA:2863
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Long philtrum, Hypoplasia of the zygomatic bone, Frontal bossing ORPHA:3074
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hypoplasia of the corpus callosum, Brachycephaly, Cleft upper lip, Cleft palate, Bifid uvula, Mic... OMIM:300958
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Long philtrum, Basal ganglia cysts, Wide anterior fontanel, Gastroesophageal reflux, Thin upper l... OMIM:613623
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal dental enamel morphology, Tarsal synostosis, Wide anterior fontanel, Abnormality of dent... ORPHA:85199
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Dysphagia, Knee flexion contracture, Tongue atrophy ORPHA:496689
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Hypoplasia of the brainstem, Thin vermilion border, Short philtrum, Deep philtrum, Mandibular pro... OMIM:618622
Hypoglossia With Situs Inversus
Malnutrition, Narrow mouth, Hypodontia, Microglossia, High palate, Feeding difficulties in infanc... OMIM:612776
Acrocephalopolydactyly
Premature closure of fontanelles, Abnormality of the mouth, Protuberant abdomen, Oxycephaly, Genu... ORPHA:221054
Angelman Syndrome Due To A Point Mutation
Poor suck, Drooling, Feeding difficulties, Dysphagia, Mandibular prognathia, Flat occiput, Wide m... ORPHA:411511
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Microcephaly, Feeding difficulties, Submucous cleft hard palate OMIM:619239
Six2-Related Frontonasal Dysplasia
Wide anterior fontanel, Frontal bossing, Absent/hypoplastic paranasal sinuses, Aplasia/Hypoplasia... ORPHA:488437
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Platybasia, Wormian bones, Abnormality of the dentition, Abnormal joint morphology OMIM:166230
Burn-Mckeown Syndrome
Thin vermilion border, Short philtrum, Narrow mouth, Mandibular prognathia, Cleft upper lip, Clef... OMIM:608572
Hypothyroidism, Congenital, Nongoitrous, 4
Macroglossia, Wide anterior fontanel OMIM:275100
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Coffin-Siris Syndrome 6
Wormian bones, Short philtrum, Frontal bossing, Deep philtrum, Constipation, Gastroesophageal ref... OMIM:617808
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Open mouth, Mandibular prognathia, Smooth philtrum, Protruding tongue OMIM:618732
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Dental malocclusion, Short mandibular rami, Tongue atrophy OMIM:141300
Cutis Laxa, Autosomal Recessive, Type Iia
Long philtrum, Carious teeth, Pachygyria, Wide anterior fontanel, Narrow mouth, Congenital hip di... OMIM:219200
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Macroglossia, Protruding tongue, Skull asymmetry, Cleft palate, Bifid uvula, Microcephaly, Retrog... OMIM:612938
Meckel Syndrome, Type 8
Microcephaly, Abdominal distention, Cleft upper lip, Cleft palate OMIM:613885
Cardiocranial Syndrome, Pfeiffer Type
Contracture of the proximal interphalangeal joint of the 2nd finger, Temporomandibular joint anky... ORPHA:2872
9q subtelomeric deletion syndrome
Midface retrusion, Protruding tongue, Microcephaly DECIPHER:52
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Genu valgum, Delayed eruption of primary teeth, Eruption f... OMIM:273050
8Q22.1 Microdeletion Syndrome
Long philtrum, Camptodactyly of finger, Craniosynostosis, Hypoplasia of the maxilla, Abnormality ... ORPHA:178303
Atkin-Flaitz Syndrome
Genu valgum, Frontal bossing, Genu recurvatum, Maxillary lateral incisor microdontia, Macrocephal... OMIM:300431
Oculofaciocardiodental Syndrome
Long philtrum, Oligodontia, Delayed eruption of teeth, Tooth malposition, Genu valgum, Radioulnar... ORPHA:2712
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Cerebral calcification, Hypoplasia of the zygomatic bone, Supernumerary tooth, Mic... ORPHA:3145
Antley-Bixler Syndrome
Long philtrum, Camptodactyly of finger, Craniosynostosis, Narrow mouth, Frontal bossing, Elbow an... ORPHA:83
Van Der Woude Syndrome 1
Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Angelman Syndrome
Macroglossia, Drooling, Mandibular prognathia, Constipation, Flat occiput, Wide mouth, Protruding... OMIM:105830
Lattice Corneal Dystrophy Type I
Decreased corneal sensation, Recurrent corneal erosions, Central posterior corneal opacity, Subep... ORPHA:98964
Hartnup Disorder
Glossitis OMIM:234500
Craniolenticulosutural Dysplasia
Long philtrum, Carious teeth, Delayed eruption of teeth, Delayed closure of the anterior fontanel... OMIM:607812
Hydrolethalus
Absent septum pellucidum, Arrhinencephaly, Anencephaly, Gingival cleft, Unilateral cleft lip, Cle... ORPHA:2189
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Craniosynostosis, Lambdoidal craniosynostosis, Sagittal craniosynostos... OMIM:614188
Puerto Rican Infant Hypotonia Syndrome
Long philtrum, Narrow palate, Drooling, Open mouth, Constipation, Chronic constipation, High pala... OMIM:600096
Sweeney-Cox Syndrome
Short philtrum, Narrow mouth, Wide anterior fontanel, Midface retrusion, Gastroesophageal reflux,... OMIM:617746
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Large fontanelles, Mandibular prognathia, Abnormality of the zygomatic bone, Flat occiput, Unilat... ORPHA:2511
Marshall Syndrome
Long philtrum, Genu valgum, Frontal bossing, Micrognathia, Hypoplastic frontal sinuses, Thickened... ORPHA:560
Smith-Kingsmore Syndrome
Long philtrum, Wide anterior fontanel, Open mouth, Frontal bossing, Midface retrusion, Feeding di... OMIM:616638
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Microcephaly, Glossoptosis, Feeding difficulties, Cleft palate OMIM:618356
Faciocardiomelic Dysplasia, Lethal
Narrow mouth, Neonatal death, Microglossia, Retrognathia, Micrognathia OMIM:227270
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Poor suck, Limitation of movement at ankles, Drooling, Feeding difficulties, Hypoplasia of the co... ORPHA:98794
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Toluene Embryopathy
Thin vermilion border, Biparietal narrowing, Smooth philtrum, Hypoplasia of the zygomatic bone, M... ORPHA:1920
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Diastema, Smooth philtrum, Thin upper lip vermilion, Furrowed tongue, Macr... OMIM:300534
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Gastrointestinal dysmotility, Malnutrition, Abdominal pain, Abnormal cerebral white matter morpho... OMIM:613662
Grant Syndrome
Open bite, Wormian bones, Large fontanelles, Frontal bossing, Abnormal palate morphology, Joint d... ORPHA:2097
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Feeding difficulties, Dysphagia, Mandibular prognathia, Wide mouth, Protruding tongue, Cessation ... ORPHA:98795
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Keratitis, Corneal guttata, Abnormal Descemet membrane morphology, Corneal... OMIM:613270
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Wormian bones, Microcephaly, Frontal bossing ORPHA:2787
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Narrow mouth, Microretrognathia, Microglossia, Abnormality of the wrist, Cleft... ORPHA:1307
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Achondrogenesis Type 1A
Long philtrum, Frontal bossing, Macrocephaly, Micrognathia, Abdominal distention ORPHA:93299
Birk-Barel Syndrome
Short philtrum, Microretrognathia, Dysphagia, Submucous cleft soft palate, Tented upper lip vermi... OMIM:612292
Qazi-Markouizos Syndrome
Drooling, Hypoplasia of teeth, Open mouth, Broad philtrum, Delayed ossification of carpal bones, ... ORPHA:3010
Pontocerebellar Hypoplasia, Type 1B
Feeding difficulties, Cerebral atrophy, Hip dislocation, Tongue fasciculations, Progressive micro... OMIM:614678
Acrofacial Dysostosis, Catania Type
Carious teeth, Microretrognathia, Abnormal palate morphology, Smooth philtrum, Abnormality of the... ORPHA:1786
Potocki-Shaffer Syndrome
Wormian bones, Short philtrum, Downturned corners of mouth, Parietal foramina, Brachycephaly, Tur... OMIM:601224
Mohr Syndrome
Wormian bones, Accessory oral frenulum, Porencephalic cyst, Agenesis of central incisor, Tongue n... OMIM:252100
Agnathia-Otocephaly Complex
Mandibular aplasia, Narrow mouth, Aglossia, Microglossia, Cleft palate, Micrognathia, Agenesis of... OMIM:202650
Brachydactyly, Type B1
Wide anterior fontanel, Vertebral fusion, Delayed cranial suture closure, Joint contracture of th... OMIM:113000
Schilbach-Rott Syndrome
Narrow mouth, Bifid uvula, Microcephaly, Micrognathia, Submucous cleft hard palate OMIM:164220
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma, Tongue nodules, Cerebellar vermis hypoplasia, Cleft upper lip, Cleft pala... OMIM:277170
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Dental crowding, Everted lower lip vermilion, Trismus, Glossop... OMIM:616367
Megalocornea-Mental Retardation Syndrome
Long philtrum, Genu valgum, Macrocephaly, Frontal bossing, Genu recurvatum, Dysphagia, Cerebral c... OMIM:249310
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Thin vermilion border, Wormian bones, Thin calvarium, Midface retrusio... OMIM:601812
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Carious teeth, Narrow mouth, Downturned corners of mouth, Mandibular prognathia, Genu varum, Hypo... ORPHA:1110
Hypomandibular Faciocranial Dysostosis
Craniosynostosis, Narrow mouth, Midface retrusion, Death in infancy, Aplasia/Hypoplasia of the to... ORPHA:1790
Neonatal Adrenoleukodystrophy
Macrocephaly, Abnormal palate morphology, Dolichocephaly, Wide anterior fontanel ORPHA:44
Leber Congenital Amaurosis 1
Keratoconus, Cataract OMIM:204000
Hypoglossia-Hypodactyly Syndrome
Narrow mouth, Death in infancy, Aplasia/Hypoplasia of the tongue, Jejunal atresia, Hypodontia, An... ORPHA:989
Burning Mouth Syndrome
Tongue pain, Parageusia, Xerostomia, Abnormality of the gingiva, Abnormality of taste sensation, ... ORPHA:353253
Raine Syndrome
Enamel hypoplasia, Narrow mouth, Large fontanelles, Midface retrusion, Mandibular prognathia, Nat... OMIM:259775
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Vertebral Hypersegmentation And Orofacial Anomalies
Midface retrusion, Unilateral cleft lip, Prominent occiput, Micrognathia, Unilateral cleft palate... OMIM:619122
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Cree Mental Retardation Syndrome
Cleft soft palate, Micrognathia, Brachycephaly, Large fontanelles OMIM:606851
Apert Syndrome
Delayed eruption of teeth, Narrow palate, Large fontanelles, Frontal bossing, Midface retrusion, ... ORPHA:87
Idiopathic Congenital Hypothyroidism
Macroglossia, Large posterior fontanelle, Constipation, Elevated circulating thyroid-stimulating ... ORPHA:95717
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Cerebral atrophy, Vomiting, Diarrhea, Joint contracture of the hand, Bifid uvula... OMIM:601110
Pituitary Hormone Deficiency, Combined, 1
Macroglossia, Frontal bossing, Midface retrusion, Delayed cranial suture closure, Malar flattening OMIM:613038
Pfeiffer Syndrome
Short philtrum, Open mouth, Synostosis of carpal bones, Mandibular prognathia, Hypoplasia of the ... ORPHA:710
Developmental And Speech Delay Due To Sox5 Deficiency
Hyperplasia of the maxilla, Narrow palate, Frontal bossing, Dental crowding, Feeding difficulties... ORPHA:313892
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Dislocated radial head, Camptodactyly of finger, Frontal bossing, Hypo... OMIM:612350
Lethal Omphalocele-Cleft Palate Syndrome
Unilateral cleft lip, Cleft palate, Bifid uvula, Cleft soft palate, Retrognathia ORPHA:2736
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Lipoid Proteinosis
Tongue nodules, Dysphagia, Microglossia, Abnormal oral mucosa morphology, Cerebral calcification,... ORPHA:530
Marden-Walker Syndrome
Long philtrum, Hypoplasia of the brainstem, Narrow mouth, Wide anterior fontanel, Radioulnar syno... OMIM:248700
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate OMIM:192445
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short philtrum, Narrow mouth, Feeding difficulties, Micrognathia, Cleft palate, Bifid uvula, High... ORPHA:96184
Arthrogryposis, Distal, Type 3
Camptodactyly of finger, Congenital hip dislocation, Camptodactyly of toe, Knee flexion contractu... OMIM:114300
Colonic Atresia
Abdominal distention, Colonic atresia OMIM:303650
Desmosterolosis
Macrocephaly, Pachygyria, Narrow mouth, Frontal bossing, Absent septum pellucidum, Feeding diffic... ORPHA:35107
Zimmermann-Laband Syndrome 3
Bifid uvula, High palate, Thick lower lip vermilion, Gingival overgrowth OMIM:618658
Acrofrontofacionasal Dysostosis 2
High palate, Microcephaly, Brachycephaly, Wide anterior fontanel OMIM:239710
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Frontal open bite, Delayed closure of the anterior fontanelle, Wide anterior fontanel, Recurrent ... OMIM:225410
Osteogenesis Imperfecta, Type Iii
Wormian bones, Protrusio acetabuli, Wide anterior fontanel, Frontal bossing, Platybasia, Decrease... OMIM:259420
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Downturned corners of ... ORPHA:884
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, Submucous cleft lip, Broad jaw, High palate, Microgn... ORPHA:96170
Cole-Carpenter Syndrome 2
Wormian bones, Lambdoidal craniosynostosis, Frontal bossing, Midface retrusion, Microretrognathia... OMIM:616294
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Smooth philtrum, Intestinal pseudo-obstruction, Increased size of the man... OMIM:300048
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Frontal bossing, Midface retrusion, Glossoptosis, Cleft palate, Micrognathia ORPHA:440354
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Plagiocephaly, Duodenal atresia, Spina bifida occulta, Microcephaly, Retrogna... OMIM:619227
Orofaciodigital Syndrome Iv
Porencephalic cyst, Tongue nodules, Cerebral atrophy, Hamartoma of tongue, Lobulated tongue, Clef... OMIM:258860
Apert Syndrome
Narrow palate, Large fontanelles, Mandibular prognathia, Megalencephaly, Esophageal atresia, Clef... OMIM:101200
Permanent Congenital Hypothyroidism
Macroglossia, Feeding difficulties, Large fontanelles, Constipation, Abdominal distention ORPHA:226292
Neu-Laxova Syndrome
Abnormality of the philtrum, Cerebral calcification, Micrognathia, Pachygyria, Pterygium, Cleft p... ORPHA:2671
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology, Long philtrum, Downturned corners of mouth, Feeding difficult... ORPHA:404440
Congenital Sucrase-Isomaltase Deficiency
Vomiting, Abdominal colic, Diarrhea, Abdominal distention ORPHA:35122
Van Maldergem Syndrome 1
Pachygyria, Wide anterior fontanel, Downturned corners of mouth, Feeding difficulties, Midface re... OMIM:601390
Meckel Syndrome 12
Cerebellar hypoplasia, Bifid uvula, Microcephaly, Cerebral hypoplasia, Micrognathia, Agenesis of ... OMIM:616258
Acrocallosal Syndrome
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Wide anterior fo... ORPHA:36
Zellweger Syndrome
Abnormality of the tongue, Wide anterior fontanel, Micrognathia, Pyloric stenosis, Death in infan... ORPHA:912
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Talon cusp, Craniosynostosis, Aplasia/Hypoplasia of the corpus... ORPHA:2409
Craniosynostosis 6
Craniosynostosis, Agenesis of corpus callosum, Plagiocephaly, Abnormal corpus callosum morphology... OMIM:616602
Keratoconus Posticus Circumscriptus
Central posterior corneal opacity, Keratoconus OMIM:244600
Seckel Syndrome 2
Cerebellar hypoplasia, Microglossia, Microcephaly, Microdontia, Micrognathia OMIM:606744
Deafness-Craniofacial Syndrome
Short philtrum, Frontal bossing, Abnormal palate morphology, Abnormality of the dentition, Short ... ORPHA:3241
Nager Syndrome
Abnormal palate morphology, Wide mouth, Non-midline cleft lip, Hypoplasia of the zygomatic bone, ... ORPHA:245
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Partial agenesis of the corpus callosum, Mandibular prognathia, Wide mouth,... OMIM:619103
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Wormian bones, Stillbirth, Platybasia, Decreased calvarial ossification, Microcephaly OMIM:259410
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormal dental enamel morphology, Frontal bossing, Feeding... ORPHA:1812
Sener Syndrome
Wide anterior fontanel, Hypoplasia of the corpus callosum, Natal tooth, Chronic diarrhea, Wide mo... OMIM:606156
Acrofacial Dysostosis Syndrome Of Rodriguez
Short philtrum, Narrow mouth, Wide anterior fontanel, High palate, Micrognathia OMIM:201170
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Cubitus valgus, Genu valgum, Large fontanelles, Mandibular prognathia, Smooth philtrum, Hypoplasi... ORPHA:1778
Pallister W Syndrome
Cubitus valgus, Agenesis of central incisor, Frontal bossing, Agenesis of maxillary central incis... OMIM:311450
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Long philtrum, Thin vermilion border, Frontal bossing, Hypoplasia of the corpus callosum, Bifid u... OMIM:241410
Orofaciodigital Syndrome Iii
Tongue nodules, Bifid tongue, Supernumerary tooth, Bifid uvula, Microdontia OMIM:258850
Bardet-Biedl Syndrome 9
Cataract, Astigmatism, Polydipsia, Polyphagia OMIM:615986
Kleefstra Syndrome 1
Macroglossia, Midface retrusion, Everted lower lip vermilion, Natal tooth, Mandibular prognathia,... OMIM:610253
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology, Nausea ORPHA:97230
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Craniosynostosis, Narrow palate, Narrow mouth, Midface retrusion, Cloverleaf skull, Tooth agenesi... ORPHA:1555
Branchiogenic-Deafness Syndrome
Branchial fistula, Trismus, Submucous cleft hard palate, Branchial cyst OMIM:609166
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Tetraamelia Syndrome 2
Ankyloglossia, Microretrognathia, Glossoptosis, Micrognathia, Bilateral cleft lip OMIM:618021
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Large posterior fontanelle, Protuberant abdomen, Constipation, Elevated circulating... ORPHA:226313
Cohen Syndrome
Genu valgum, Short philtrum, Cubitus valgus, Open mouth, Feeding difficulties in infancy, Aplasia... ORPHA:193
20P13 Microdeletion Syndrome
Wide anterior fontanel, Smooth philtrum, Tented upper lip vermilion, Thin upper lip vermilion, Ma... ORPHA:313781
Stickler Syndrome, Type I
Pierre-Robin sequence, Midface retrusion, Malar flattening, Cleft palate, Bifid uvula, Osteoarthr... OMIM:108300
Microcephaly 26, Primary, Autosomal Dominant
Long philtrum, Pachygyria, Feeding difficulties, Hypoplasia of the corpus callosum, Protruding to... OMIM:619179
Chromosome 17Q12 Duplication Syndrome
Micrognathia, Cleft soft palate, Esophageal atresia, Smooth philtrum OMIM:614526
Carey-Fineman-Ziter Syndrome
Long philtrum, Thin vermilion border, Aplasia/Hypoplasia of the cerebellum, Pierre-Robin sequence... ORPHA:1358
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Macrocephaly, Protruding tongue, Macroglossia OMIM:227250
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Flat occiput, Intestinal malrotation, Bilateral cleft lip and palate, Bifid tongue, Micrognathia ORPHA:2001
Pai Syndrome
Aplasia/Hypoplasia of the corpus callosum, Cleft palate, Abnormal oral frenulum morphology, Bifid... ORPHA:1993
Autosomal Recessive Cutis Laxa Type 2A
Long philtrum, Pachygyria, Congenital hip dislocation, Wide anterior fontanel, Frontal bossing, T... ORPHA:357058
Lessel-Kreienkamp Syndrome
Open mouth, Frontal bossing, Feeding difficulties, Gastroesophageal reflux, Plagiocephaly, Thin u... OMIM:619149
Mulibrey Nanism
Enamel hypoplasia, Frontal bossing, Dental crowding, Hypoplastic frontal sinuses, Dolichocephaly,... OMIM:253250
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Midface retrusion, Hypoplasia of the corpus callosum, Protuberant abdomen, Flat ac... OMIM:617102
Anauxetic Dysplasia 3
Genu valgum, Oligodontia, Hip subluxation, Wide anterior fontanel, Feeding difficulties, Midface ... OMIM:618853
Cronkhite-Canada Syndrome
Abdominal pain, Anorexia, Furrowed tongue, Stomach cancer, Intestinal polyposis, Diarrhea, Macroc... ORPHA:2930
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Short philtrum, Abnormal caudate nucleus morphology, Smooth philtrum, Primary microcephaly, Periv... ORPHA:293725
Hypertrichosis-Acromegaloid Facial Appearance Syndrome
Everted lower lip vermilion, Thick vermilion border, Furrowed tongue, Gingival overgrowth, Oral s... ORPHA:966
Van Maldergem Syndrome 2
Wide anterior fontanel, Downturned corners of mouth, Feeding difficulties, Midface retrusion, Hyp... OMIM:615546
Rapp-Hodgkin Syndrome
Narrow mouth, Small, conical teeth, Hypodontia, Bifid uvula, Cleft upper lip, Cleft palate, Conic... OMIM:129400
Holoprosencephaly 2
Median cleft lip and palate, Midface retrusion, Constipation, Cerebellar hypoplasia, Anterior pit... OMIM:157170
Developmental And Epileptic Encephalopathy 80
Long philtrum, Feeding difficulties, Hypoplasia of the corpus callosum, Abnormal cerebral white m... OMIM:618580
Ritscher-Schinzel Syndrome 3
Wide anterior fontanel, Cerebellar vermis hypoplasia, Death in infancy, Thin upper lip vermilion,... OMIM:619135
Atypical Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Tongue atrophy ORPHA:216873
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Bifid uvula, High palate, Median cleft lip OMIM:155145
Lethal Kniest-Like Dysplasia
Macrocephaly, Protuberant abdomen, Wide anterior fontanel, Cleft palate ORPHA:2347
Cri-Du-Chat Syndrome
Short philtrum, Downturned corners of mouth, Microretrognathia, Gastroesophageal reflux, Oral cle... OMIM:123450
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Abnormal tongue morphology, Aplasia/Hypoplasia of the corpus callosum, Downturn... ORPHA:531151
Osteogenesis Imperfecta, Type Xx
Wormian bones, Narrow palate, Agenesis of permanent teeth, Midface retrusion, Mandibular prognath... OMIM:618644
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, Hypoplasia of the zygomatic bone, High palate, Micrognathia, Microcephaly ORPHA:1131
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Treacher-Collins Syndrome
Open bite, Abnormal dental enamel morphology, Narrow mouth, Rectovaginal fistula, High palate, Mi... ORPHA:861
Fibrochondrogenesis 1
Long philtrum, Narrow mouth, Wide anterior fontanel, Stillbirth, Frontal bossing, Protuberant abd... OMIM:228520
W Syndrome
Cubitus valgus, Elbow dislocation, Agenesis of maxillary central incisor, Upper lip pit, Broad uv... ORPHA:2804
Atresia Of Small Intestine
Feeding difficulties, Intestinal hypoplasia, Intestinal malrotation, Jejunal atresia, Vomiting, A... ORPHA:1201
Zimmermann-Laband Syndrome
Macroglossia, Gingival fibromatosis, Wide mouth, Hypodontia, Anterior open-bite malocclusion, Sup... ORPHA:3473
Ear-Patella-Short Stature Syndrome
Mandibular aplasia, Camptodactyly of finger, Craniosynostosis, Narrow mouth, Feeding difficulties... ORPHA:2554
Gillessen-Kaesbach-Nishimura Syndrome
Wide anterior fontanel, Smooth philtrum, Brachycephaly, Microcephaly, Retrognathia, Micrognathia OMIM:263210
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Unicoronal synostosis, Midface retrusion, Microretrognathia, Natal tooth, Cerebellar hypoplasia, ... OMIM:616300
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Orofaciodigital Syndrome Xv
Agenesis of corpus callosum, Lobulated tongue OMIM:617127
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Carious teeth, Abnormal dental enamel morphology, Abnormality of dental morphology, Midface retru... ORPHA:3253
Cdags Syndrome
Rectourethral fistula, Lambdoidal craniosynostosis, Frontal bossing, Midface retrusion, Parietal ... OMIM:603116
Tarp Syndrome
Large fontanelles, Tongue nodules, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Abnormal ... OMIM:311900
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Midface retrusion, Death in infancy, Smooth philtrum, Flat occiput, Protein-losing enteropathy, T... OMIM:235255
Orofaciodigital Syndrome Type 4
Oral cleft, Cerebral cortical atrophy, Rectovaginal fistula, High, narrow palate, Micrognathia, C... ORPHA:2753
Osteopathia Striata With Cranial Sclerosis
Delayed closure of the anterior fontanelle, Large fontanelles, Dental crowding, Natal tooth, Inte... OMIM:300373
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Open bite, Craniosynostosis, Lambdoidal craniosynostosis, Open mouth, Branchial anomaly, Downturn... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Open bite, Craniosynostosis, Lambdoidal craniosynostosis, Open mouth, Branchial anomaly, Downturn... ORPHA:352665
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Macrocephaly, Wormian bones, Wide anterior fontanel OMIM:601356
Hyperphosphatasia-Intellectual Disability Syndrome
Decreased head circumference, Short philtrum, Downturned corners of mouth, Micrognathia, Mandibul... ORPHA:247262
Facioscapulohumeral Muscular Dystrophy 1
Dysphagia, Tongue atrophy OMIM:158900
Catel-Manzke Syndrome
Joint dislocation, Glossoptosis, Cleft upper lip, Cleft palate, High palate, Micrognathia OMIM:616145
Robin Sequence With Cleft Mandible And Limb Anomalies
Hip subluxation, Narrow mouth, Feeding difficulties, Pierre-Robin sequence, Cleft lower alveolar ... OMIM:268305
Congenital Disorder Of Glycosylation, Type Ih
Long philtrum, Large fontanelles, Protein-losing enteropathy, Decreased liver function, Diarrhea,... OMIM:608104
1Q41Q42 Microdeletion Syndrome
Frontal bossing, Thick vermilion border, Submucous cleft hard palate, Cleft palate ORPHA:250999
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
Flat Face-Microstomia-Ear Anomaly Syndrome
Long philtrum, Camptodactyly of finger, Narrow mouth, Downturned corners of mouth, Abnormal oral ... ORPHA:1968
Robinow Syndrome, Autosomal Recessive 1
Long philtrum, Macroglossia, Wide anterior fontanel, Frontal bossing, Dental crowding, Midface re... OMIM:268310
Diamond-Blackfan Anemia 6
Cleft upper lip, Cleft palate, Bifid uvula, Retrognathia, Micrognathia OMIM:612561
Walker-Warburg Syndrome
Macrocephaly, Pachygyria, Agenesis of corpus callosum, Absent septum pellucidum, Cerebellar hypop... ORPHA:899
Cerebrocostomandibular Syndrome
Long philtrum, Porencephalic cyst, Congenital hip dislocation, Anal stenosis, Micrognathia, Gastr... OMIM:117650
Osteogenesis Imperfecta, Type V
Wormian bones, Abnormality of the dentition, Anterior radial head dislocation, Dentinogenesis imp... OMIM:610967
Central Diabetes Insipidus
Polydipsia, Anxiety ORPHA:178029
Trisomy 8Q
Camptodactyly of finger, Everted lower lip vermilion, Non-midline cleft lip, Oral cleft, Bifid to... ORPHA:1752
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Agenesis of corpus callosum, Frontal bossing, Camptodactyly of toe, Abnormality... OMIM:175700
Holoprosencephaly 3
Midface retrusion, Solitary median maxillary central incisor, Proboscis, Cleft lip, Cleft palate,... OMIM:142945
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Oligodontia, Agenesis of central incisor, Abnormality of canine, Pierre-Robin sequence, Everted l... ORPHA:364577
Dubowitz Syndrome
Delayed eruption of teeth, Craniosynostosis, Wide anterior fontanel, Aplasia/Hypoplasia of the co... ORPHA:235
Lelis Syndrome
Carious teeth, Abnormality of the mouth, Midface retrusion, Mandibular prognathia, Hypodontia, Fu... ORPHA:140936
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Hypoplasia of the corpus callosum, Cerebral atrophy, Flat occiput, Wide mouth, Gastrostomy tube f... OMIM:618797
Ring Chromosome 22 Syndrome
Absent septum pellucidum, Midface retrusion, Thick vermilion border, Protruding tongue, Microceph... ORPHA:1446
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gastrointestinal dysmotility, Oligodontia, Macroglossia, Craniosynostosis, Downturned corners of ... ORPHA:453499
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Wormian bones, Carious teeth, Delayed closure of the anterior fontanelle, Limited elbow extension... OMIM:604922
Branchioskeletogenital Syndrome
Thin vermilion border, Carious teeth, Short philtrum, Craniosynostosis, Downturned corners of mou... ORPHA:1299
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Plummer-Vinson Syndrome
Glossitis, Narrow mouth, Abdominal pain, Dysphagia, Intra-oral hyperpigmentation, Cheilitis, Esop... ORPHA:54028
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta, Dolichocephaly, Wormian bones ORPHA:166277
Holzgreve Syndrome
Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the tongue, Bifid tongue, Cleft ... ORPHA:2167
Cerebrocostomandibular Syndrome
Porencephalic cyst, Feeding difficulties, Death in infancy, Cleft palate, Hydranencephaly, Glosso... ORPHA:1393
Craniosynostosis-Fibular Aplasia Syndrome
Open bite, Wormian bones, Large fontanelles, Midface retrusion, Abnormal palate morphology, Tooth... ORPHA:1533
Holoprosencephaly 9
Hypoplasia of the premaxilla, Short philtrum, Panhypopituitarism, Partial agenesis of the corpus ... OMIM:610829
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Midface retrusion, Abnormal joint morphology, Glossoptosis, Cleft palate, Bifid ... ORPHA:1427
Orofaciodigital Syndrome I
Enamel hypoplasia, Hypothalamic hamartoma, Carious teeth, Porencephalic cyst, Agenesis of permane... OMIM:311200
Orofaciodigital Syndrome Type 1
Open bite, Abnormal dental enamel morphology, Tarsal synostosis, Tongue nodules, Odontogenic neop... ORPHA:2750
Buratti-Harel Syndrome
Gastroesophageal reflux, Bifid uvula, High palate, Velopharyngeal insufficiency, Submucous cleft ... OMIM:619314
Retinitis Pigmentosa
Keratoconus, Cataract ORPHA:791
Moebius Syndrome
Hypoplasia of the brainstem, Dysphagia, Abnormality of the dentition, Bifid uvula, High palate, F... OMIM:157900
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue, Camptodactyly of finger ORPHA:2928
15Q Overgrowth Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Macrocephaly, Craniosynostos... ORPHA:314585
Mcdonough Syndrome
Short philtrum, Mandibular prognathia, Furrowed tongue, Dental malocclusion, Micrognathia OMIM:248950
Cardiofaciocutaneous Syndrome 1
Open bite, Open mouth, Cerebral cortical atrophy, Vomiting, High palate, Micrognathia, Constipati... OMIM:115150
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Midface retrusion, Feeding difficulties, Wide anterior fontanel, Cerebral calcification OMIM:617241
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Feeding difficulties, Hypoplasia of the corpus callosum, Death in infancy, Hepatic failure, Abdom... OMIM:618528
Peroxisome Biogenesis Disorder 11A (Zellweger)
Wide anterior fontanel, Large fontanelles, Polymicrogyria, Decreased liver function, Lissencephaly OMIM:614883
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Protruding tongue, Diarrhea, Sinusitis, Micrognathia, Malar flattening, Malabsorption OMIM:242860
Holoprosencephaly 13, X-Linked
Agenesis of corpus callosum, Gastroesophageal reflux, Solitary median maxillary central incisor, ... OMIM:301043
Marbach-Rustad Progeroid Syndrome
Wormian bones, Delayed eruption of primary teeth, Narrow mouth, Midface retrusion, Smooth philtru... OMIM:619322
Brittle Cornea Syndrome
Decreased corneal thickness, Corneal erosion, Keratoglobus, Corneal scarring, Corneal dystrophy ORPHA:90354
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Short philtrum, Dental crowding, Mandibular prognathia, Cleft palate, Bifid uvula, High, narrow p... OMIM:309583
Kleefstra Syndrome Due To 9Q34 Microdeletion
Macroglossia, Downturned corners of mouth, Absent septum pellucidum, Midface retrusion, Feeding d... ORPHA:96147
Congenital Disorder Of Glycosylation, Type Iia
Thin vermilion border, Open mouth, Everted lower lip vermilion, Diastema, Wide mouth, Abnormality... OMIM:212066
Orofaciodigital Syndrome Type 6
Hypothalamic hamartoma, Biparietal narrowing, Aplasia/Hypoplasia of the corpus callosum, Midline ... ORPHA:2754
Opitz-Kaveggia Syndrome
Delayed closure of the anterior fontanelle, Narrow palate, Dental crowding, Intestinal malrotatio... OMIM:305450
Zttk Syndrome
Thin vermilion border, Craniosynostosis, Narrow mouth, Downturned corners of mouth, High palate, ... OMIM:617140
Myhre Syndrome
Thin vermilion border, Narrow mouth, Midface retrusion, Craniofacial hyperostosis, Mandibular pro... ORPHA:2588
Arthrogryposis, Distal, Type 5D
Micrognathia, Furrowed tongue, Cleft palate, Hip dislocation, Elbow flexion contracture OMIM:615065
Kniest-Like Dysplasia, Lethal
Narrow mouth, Wide anterior fontanel, Protuberant abdomen, Relative macrocephaly, Cleft palate, M... OMIM:245190
Congenital Pancreatic Cyst
Vomiting, Anorexia, Abdominal distention, Abdominal pain ORPHA:313906
Loeys-Dietz Syndrome 5
Hiatus hernia, Congenital finger flexion contractures, Midface retrusion, Flexion contracture of ... OMIM:615582
Arthrogryposis, Distal, Type 5
Keratoconus, Astigmatism, Keratoglobus OMIM:108145
Orofaciodigital Syndrome Type 10
Long philtrum, Tarsal synostosis, Cleft soft palate, Retrognathia, Micrognathia, Metatarsal synos... ORPHA:2756
Holoprosencephaly 7
Median cleft lip and palate, Hypoplasia of the premaxilla, Panhypopituitarism, Frontal bossing, M... OMIM:610828
Thyroid Hypoplasia
Macroglossia, Constipation, Abdominal distention, Large fontanelles ORPHA:95720
Lenz-Majewski Hyperostotic Dwarfism
Abnormal dental enamel morphology, Macrocephaly, Large fontanelles, Absent septum pellucidum, Man... ORPHA:2658
Pycnodysostosis
Delayed eruption of teeth, Wormian bones, Narrow palate, Abnormality of dental morphology, Fronta... ORPHA:763
Robinow Syndrome, Autosomal Dominant 1
Long philtrum, Macroglossia, Delayed eruption of teeth, Narrow palate, Wide anterior fontanel, Do... OMIM:180700
Limb-Mammary Syndrome
Bifid uvula, Cleft palate, Joint contracture of the hand, Hypodontia OMIM:603543
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Genu valgum, Hypoplasia of the tooth germ, Feeding difficulties, Cerebral dysmyelination, Contrac... ORPHA:293967
Acquired Hypertrichosis Lanuginosa
Macroglossia, Chronic diarrhea, Glossitis, Poor appetite ORPHA:2221
Progeroid Syndrome, Petty Type
Everted lower lip vermilion, Mandibular prognathia, Wide anterior fontanel, Tooth agenesis ORPHA:2963
Autosomal Recessive Centronuclear Myopathy
Bifid uvula, High palate, Retrognathia, Narrow mouth ORPHA:169186
Nestor-Guillermo Progeria Syndrome
Delayed closure of the anterior fontanelle, Dental crowding, Midface retrusion, Wide cranial sutu... OMIM:614008
Opitz Gbbb Syndrome, Type Ii
Craniosynostosis, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, High pa... OMIM:145410
Orofaciodigital Syndrome Type 2
Talon cusp, Agenesis of central incisor, Hypoplasia of teeth, Taurodontia, Tongue nodules, Natal ... ORPHA:2751
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Wide anterior fontanel, Downturned corners of mouth, Pierre-Robin sequence, Micrognathia, Cerebel... OMIM:217980
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu valgum, Dislocated radial head, Craniosynostosis, Narrow palate, Wide anterior fontanel, Fro... OMIM:182212
Familial Visceral Myopathy
Camptodactyly of finger, Aganglionic megacolon, Cleft palate, Microcephaly, Micrognathia, Abdomin... ORPHA:2604
Marshall-Smith Syndrome
Craniosynostosis, Open mouth, Cerebellar hypoplasia, Protruding tongue, Gingival overgrowth, Retr... ORPHA:561
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Macrocephaly, Malar flattening, Hypoplasia of the zygomatic bone ORPHA:2835
Frontorhiny
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Hypoplastic frontal sinuses, ... ORPHA:391474
Acrofacial Dysostosis, Cincinnati Type
Midface retrusion, Acetabular dysplasia, Cleft palate, Microcephaly, Retrognathia, Micrognathia, ... OMIM:616462
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Narrow mouth, Dental crowding, Midface retrusion, Thin upper lip vermi... OMIM:300990
Hallermann-Streiff Syndrome
Wormian bones, Thin vermilion border, Narrow palate, Narrow mouth, Natal tooth, High palate, High... OMIM:234100
Familial Cold Urticaria
Conjunctivitis, Polydipsia ORPHA:47045
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enamel hypoplasia, Feeding difficulties, Hypoplasia of the corpus callosum, Cerebellar vermis hyp... OMIM:615802
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastrointestinal dysmotility, Small intestinal dysmotility, Abdominal pain, Dysphagia, Abnormal c... ORPHA:298
Down Syndrome
Macroglossia, Narrow palate, Narrow mouth, Downturned corners of mouth, Open mouth, Aganglionic m... ORPHA:870
Meier-Gorlin Syndrome 7
Craniosynostosis, Narrow mouth, Wide anterior fontanel, Anal stenosis, Sagittal craniosynostosis,... OMIM:617063
Mandibuloacral Dysplasia
Abnormal tongue morphology, Hypoplasia of teeth, Dental crowding, Delayed cranial suture closure,... ORPHA:2457
Cowden Syndrome 5
Progressive macrocephaly, Narrow mouth, Furrowed tongue, Colonic diverticula, High palate, Hamart... OMIM:615108
Basel-Vanagaite-Smirin-Yosef Syndrome
Cavum septum pellucidum, Short philtrum, Hypoplasia of the corpus callosum, Everted lower lip ver... ORPHA:464738
Desbuquois Dysplasia 2
Long philtrum, Dental crowding, Radial head subluxation, Hypodontia, Knee dislocation, Flat aceta... OMIM:615777
Achondrogenesis, Type Ii
Abdominal distention, Stillbirth, Cleft palate OMIM:200610
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Tarsal synostosis, Mandibular prognathia, Hypodontia, Vertebral fusion, Bifid ... OMIM:263540
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Delayed ossification of carpal bones, Carious teeth, Micrognathia, Glossoptosis ORPHA:93346
Angelman Syndrome
Nasogastric tube feeding, Drooling, Feeding difficulties, Dysphagia, Mandibular prognathia, Const... ORPHA:72
Diabetes Insipidus, Neurohypophyseal Type
Polydipsia OMIM:304900
Platyspondylic Dysplasia, Torrance Type
Cleft palate, Genu varum, Abnormality of the carpal bones, Malar flattening, Abdominal distention ORPHA:85166
Van Esch-O'Driscoll Syndrome
Increased circulating gonadotropin level, Feeding difficulties, Cerebral atrophy, Cerebellar hypo... OMIM:301030
Dubowitz Syndrome
Delayed eruption of teeth, Carious teeth, Agenesis of permanent teeth, Gastroesophageal reflux, C... OMIM:223370
Acro-Renal-Mandibular Syndrome
Short philtrum, Aplasia/Hypoplasia of the tongue, Oral cleft, Hypoplasia of the zygomatic bone, H... ORPHA:958
Cap Polyposis
Abdominal pain, Hematochezia, Constipation, Chronic atrophic gastritis, Colorectal polyposis, Dia... ORPHA:160148
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Contractures-Developmental Delay-Pierre Robin Syndrome
Radioulnar synostosis, Abnormality of frontal sinus, Cerebral white matter hypoplasia, Abnormal h... ORPHA:436003
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Long philtrum, Feeding difficulties, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Sm... OMIM:300968
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology, Gastroesophageal reflux, Fragile teeth, Hypodontia, Episodic ... ORPHA:2959
Severe Oculo-Renal-Cerebellar Syndrome
Aplasia/Hypoplasia of the cerebellum, Mandibular prognathia, Wide mouth, Hypoplasia of the zygoma... ORPHA:2715
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Oligodontia, Tarsal synostosis, Narrow mouth, Large fontanelles, Elbow d... ORPHA:90652
Congenital Disorder Of Glycosylation, Type Iie
Narrow mouth, Feeding difficulties, Hypoplasia of the corpus callosum, Cerebral atrophy, Gastroes... OMIM:608779
Congenital Hypothyroidism
Macroglossia, Large fontanelles, Anterior hypopituitarism, Large posterior fontanelle, Constipati... ORPHA:442
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Thin upper lip vermilion, Genu valgum, Hypoplasia of the zygomatic bone ORPHA:1295
Moebius Syndrome
Open mouth, Feeding difficulties in infancy, Dysphagia, Everted lower lip vermilion, Death in inf... ORPHA:570
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Marshall-Smith Syndrome
Short philtrum, Prominence of the premaxilla, Frontal bossing, Midface retrusion, Cerebral atroph... OMIM:602535
Menkes Disease
Wormian bones, Microcephaly, Death in childhood, Brachycephaly OMIM:309400
Chromosome 18Q Deletion Syndrome
Short philtrum, Downturned corners of mouth, Midface retrusion, Mandibular prognathia, Abnormal c... OMIM:601808
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Long philtrum, Open mouth, Frontal bossing, Protuberant abdomen, Megalencephaly, Wide mouth, Abno... ORPHA:457485
3Mc Syndrome 1
Wide anterior fontanel, Lambdoidal craniosynostosis, Dental crowding, Radioulnar synostosis, Skul... OMIM:257920
Orofaciodigital Syndrome Type 3
Cerebellar vermis hypoplasia, Hamartoma of tongue, Abnormality of the dentition, Irregular dentit... ORPHA:2752
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Long philtrum, Humeroradial synostosis, Lambdoidal craniosynostosis, Wide anterior fontanel, Fron... OMIM:207410
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Frontal bossing, Thin calvarium, Midface retrusion, Feeding difficulties, Delayed cranial suture ... ORPHA:1129
Acrocallosal Syndrome
Long philtrum, Thin vermilion border, Short philtrum, Hypoplasia of teeth, Wide anterior fontanel... OMIM:200990
Cowden Syndrome 6
Progressive macrocephaly, Narrow mouth, Furrowed tongue, Colonic diverticula, High palate, Hamart... OMIM:615109
Cirrhosis, Familial
Abdominal distention, Esophageal varix OMIM:215600
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Long philtrum, Short philtrum, Drooling, Downturned corners of mouth, Hypoplasia of the corpus ca... OMIM:619121
Gapo Syndrome
Wide anterior fontanel, Frontal bossing, Micrognathia, Abnormality of the dentition, Delayed cran... OMIM:230740
Loeys-Dietz Syndrome 4
Protrusio acetabuli, Dolichocephaly, Broad uvula, Retrognathia, Bifid uvula, High palate, High, n... OMIM:614816
Duplication Of The Pituitary Gland
Abnormality of the tongue, Abnormality of the pituitary gland, Abnormal hypothalamus morphology, ... ORPHA:314621
Familial Thyroid Dyshormonogenesis
Macroglossia, Large posterior fontanelle, Constipation, Elevated circulating thyroid-stimulating ... ORPHA:95716
Adiposis Dolorosa
Constipation, Abdominal distention OMIM:103200
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta, Decreased calvarial ossification, Wormian bones OMIM:259440
Hallermann-Streiff Syndrome
Abnormality of the tongue, Narrow mouth, Frontal bossing, Natal tooth, Cerebellar hypoplasia, Abn... ORPHA:2108
Bifid Uvula
Bifid uvula, Submucous cleft soft palate, Cleft lip ORPHA:99771
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Long philtrum, Cavum septum pellucidum, Feeding difficulties, Hypoplasia of the corpus callosum, ... OMIM:619383
Sialuria
Long philtrum, Frontal bossing, Protuberant abdomen, Smooth philtrum, Thin upper lip vermilion, H... OMIM:269921
Achondrogenesis, Type Ib
Malar flattening, Abdominal distention, Stillbirth OMIM:600972
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Wide anterior fontanel, Frontal bossing, Large posterior fontanelle, Decreased calvarial ossifica... OMIM:617925
Icf Syndrome
Macroglossia, Protruding tongue, Macrocephaly, Micrognathia, Malabsorption ORPHA:2268
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Microglossia, Narrow mouth ORPHA:1972
Prader-Willi Syndrome Due To Translocation
Carious teeth, Downturned corners of mouth, Nasogastric tube feeding in infancy, Anterior pituita... ORPHA:177907
Ramos-Arroyo Syndrome
Long philtrum, Carious teeth, Narrow mouth, Frontal bossing, Aganglionic megacolon, Xerostomia, P... ORPHA:1051
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Chronic diarrhea, Hyperactive bowel sounds OMIM:606824
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Long philtrum, Macroglossia, Dental crowding, Protruding tongue, High palate, Retrognathia, Micro... OMIM:141750
Hereditary Folate Malabsorption
Glossitis, Gastroesophageal reflux, Cheilitis, Anorexia, Diarrhea, Cerebral calcification, Nausea... ORPHA:90045
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Glossitis, Abdominal pain, Hematochezia, Protein-losing enteropathy, Anorexia, Xerostomia, Diarrh... OMIM:175500
Pitt-Hopkins-Like Syndrome 2
Drooling, Feeding difficulties, Constipation, Gastroesophageal reflux, Wide mouth, Protruding tongue OMIM:614325
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cubitus valgus, Macroglossia, Macrocephaly, Aplasia/Hypoplasia of the corpus callosum, Flat occip... OMIM:214100
Hypoglossia-Hypodactylia
Narrow mouth, Aglossia, Microglossia, Retrognathia, Micrognathia OMIM:103300
Cardiofaciocutaneous Syndrome
Cubitus valgus, Long philtrum, Genu valgum, Biparietal narrowing, Frontal bossing, Cerebral corti... ORPHA:1340
Stuve-Wiedemann Syndrome
Pursed lips, Abnormal dental enamel morphology, Enlarged joints, Frontal bossing, Feeding difficu... OMIM:601559
Fontaine Progeroid Syndrome
Oligodontia, Craniosynostosis, Narrow mouth, Mandibular prognathia, Death in infancy, High, narro... OMIM:612289
Autosomal Recessive Kenny-Caffey Syndrome
Calvarial osteosclerosis, Microcephaly, Carious teeth, Delayed cranial suture closure ORPHA:93324
Holoprosencephaly
Aplasia/Hypoplasia of the cerebellum, Branchial anomaly, Solitary median maxillary central inciso... ORPHA:2162
Microtriplication 11Q24.1
Keratoconus ORPHA:289522
Marden-Walker Syndrome
Camptodactyly of finger, Narrow mouth, Radioulnar synostosis, Absent septum pellucidum, Micrognat... ORPHA:2461
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Submucous cleft soft palate, Non-mi... ORPHA:1071
Velocardiofacial Syndrome
Open mouth, Pierre-Robin sequence, Cleft palate, Microcephaly, Retrognathia, Velopharyngeal insuf... OMIM:192430
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Genu valgum, Macroglossia, Feeding difficulties, Hypoplasia of the corpus callosum, Deep philtrum... OMIM:619194
Immunodeficiency 49
Micrognathia, Wormian bones, Short philtrum, Natal tooth OMIM:617237
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Delayed eruption of teeth, Carious teeth, Enlargement of the ankles, Frontal b... OMIM:277440
Elsahy-Waters Syndrome
Long philtrum, Delayed eruption of teeth, Multiple impacted teeth, Thick lower lip vermilion, Ana... OMIM:211380
Branchiootorenal Syndrome 1
Congenital hip dislocation, Branchial cyst, Branchial fistula, Intestinal malrotation, Abnormal c... OMIM:113650
Baller-Gerold Syndrome
Narrow mouth, Lambdoidal craniosynostosis, Rectovaginal fistula, Spina bifida occulta, High palat... OMIM:218600
Robinow Syndrome, Autosomal Dominant 3
Long philtrum, Agenesis of permanent teeth, Downturned corners of mouth, Frontal bossing, Midface... OMIM:616894
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Protuberant abdomen, Genu valgum, C1-C2 subluxation, Cleft palate OMIM:184250
Trisomy 10P
Poor suck, Thin vermilion border, Flexion contracture of thumb, Abnormal hip joint morphology, Fr... ORPHA:171929
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Dentinogenesis imperfecta, Wormian bones OMIM:166220
Charcot-Marie-Tooth Disease, Type 4C
Tongue fasciculations, Tongue atrophy OMIM:601596
Tenorio Syndrome
Cavum septum pellucidum, Macroglossia, Mandibular prognathia, Gastroesophageal reflux, Stomatitis... OMIM:616260
Congenital Disorder Of Glycosylation, Type It
Bifid uvula, Micrognathia, Pierre-Robin sequence, Cleft palate OMIM:614921
Ritscher-Schinzel Syndrome 2
Short philtrum, Cerebellar hypoplasia, Protruding tongue, Macrocephaly, Dandy-Walker malformation OMIM:300963
Hajdu-Cheney Syndrome
Open bite, Long philtrum, Thin vermilion border, Wormian bones, Narrow mouth, Downturned corners ... ORPHA:955
Osteogenesis Imperfecta, Type Xiii
Long philtrum, Thin vermilion border, Dislocated radial head, Wormian bones OMIM:614856
Otopalatodigital Syndrome, Type Ii
Wormian bones, Delayed closure of the anterior fontanelle, Narrow mouth, Wide anterior fontanel, ... OMIM:304120
Kinsship Syndrome
Ankyloglossia, Short philtrum, Dislocated radial head, Downturned corners of mouth, Micrognathia,... OMIM:619297
Orofaciodigital Syndrome Xiv
Micrognathia, Microretrognathia, Hypoplasia of the corpus callosum, Natal tooth, Hamartoma of ton... OMIM:615948
Ovarian Fibroma
Peritonitis, Abdominal distention, Odontogenic keratocysts of the jaw, Abdominal pain ORPHA:314473
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Irritability OMIM:125800
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Feeding difficulties, Submucous cleft soft palate, Cleft soft palate, Micrognathia, Microcephaly ORPHA:2282
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Smooth philtrum, Abnormality of the dentition, Thick upper lip vermilion, Dysplast... ORPHA:363444
Diabetes Insipidus, Nephrogenic, X-Linked
Polydipsia, Irritability OMIM:304800
Down Syndrome
Macroglossia, Aganglionic megacolon, Malar flattening, Protruding tongue, Anal atresia, Brachycep... OMIM:190685
Double Outlet Right Ventricle
Narrow mouth, Feeding difficulties, Intestinal malrotation, Cleft palate, Submucous cleft hard pa... ORPHA:3426
Orofaciodigital Syndrome Type 14