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Gene: Bnc2 MGI:2443805

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Gene Summary

Name:
basonuclin 2
Synonyms:
5031434M05Rik,  8430420F16Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
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
increased cornea thickness Bnc2tm1b(KOMP)Wtsi HET Early adult 9.64×10-09

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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 Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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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, Micrognathia, Feeding difficulties in infancy, Cleft palate, Glossoptosis OMIM:261800
Corneal Endothelial Dystrophy
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... OMIM:217700
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy OMIM:610048
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Pierre-Robin sequence, Micrognathia, Frontal ... OMIM:311895
Keratoconus 9
Decreased corneal thickness, Keratoconus OMIM:617928
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Keratoconus 1
Astigmatism, Keratoconus OMIM:148300
Hartsfield Syndrome
Hypoplasia of the frontal bone, Cleft upper lip, Median cleft lip, Microcephaly, Cleft palate, Cr... OMIM:615465
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Frontofacionasal Dysplasia
Brachycephaly, Hypoplasia of the frontal bone, Cleft upper lip, Bifid uvula, Midface retrusion, M... OMIM:229400
Isolated Pierre Robin Syndrome
Cleft palate, Micrognathia, Glossoptosis ORPHA:718
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Pericallosal ... ORPHA:306542
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea OMIM:217300
Isolated Exencephaly
Aplasia/Hypoplasia of the cerebellum, Hypoplasia of the frontal bone, Abnormal calvaria morpholog... ORPHA:563612
Isolated Congenital Hypoglossia/Aglossia
Nasogastric tube feeding in infancy, Gastrostomy tube feeding in infancy, Temporomandibular joint... ORPHA:141152
Corneal Dystrophy, Endothelial, X-Linked
Corneal dystrophy, Corneal opacity, Band keratopathy OMIM:300779
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ... ORPHA:98969
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... ORPHA:293603
Auriculocondylar Syndrome 2
Dental malocclusion, Mandibular condyle hypoplasia, Temporomandibular joint ankylosis, Micrognath... OMIM:614669
Brittle Cornea Syndrome 2
Keratoglobus, Megalocornea, Decreased corneal thickness, Corneal perforation, Flat cornea, Kerato... OMIM:614170
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Retrognathia, Camptodactyly of finger, Mandibular prognathia, Micrognathia, Bifid uvula, Submucou... ORPHA:2521
Adducted Thumbs Syndrome
High palate, Craniosynostosis, Velopharyngeal insufficiency, Cerebral dysmyelination, Microcephal... OMIM:201550
Coffin-Siris Syndrome 11
High palate, Cleft soft palate, Wide mouth, Esophageal atresia, Feeding difficulties in infancy, ... OMIM:618779
Craniosynostosis 2
Brachycephaly, Cleft soft palate, Turricephaly, Supernumerary tooth, Frontal bossing, Unicoronal ... OMIM:604757
Robin Sequence-Oligodactyly Syndrome
Cleft palate, Micrognathia, Glossoptosis, Abnormality of the dentition ORPHA:3104
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Delayed cranial suture closure, Mandibular aplasia, Micrognathia, Gingival fibromat... ORPHA:1832
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... OMIM:180550
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Genu valgum, Delayed eruption of teeth, Hypodontia, Abnormality of d... ORPHA:2972
Cleft Velum
Cleft soft palate, Poor suck, Velopharyngeal insufficiency, Hypoplasia of the maxilla, Nasal regu... ORPHA:99772
Orofaciodigital Syndrome Type 5
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... ORPHA:2919
Orofacial Cleft 13
Retrognathia, Cleft soft palate, Micrognathia, Oligodontia, Malar flattening OMIM:613857
Peroxisome Biogenesis Disorder 7A (Zellweger)
High palate, Long philtrum, Wide anterior fontanel, Death in infancy, Large posterior fontanelle,... OMIM:614872
Lissencephaly, X-Linked, 2
High palate, Long philtrum, Wide anterior fontanel, Diarrhea, Feeding difficulties in infancy, Mi... OMIM:300215
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Rhizomelic Syndrome
Micrognathia, Hip dislocation, Wide anterior fontanel, Microcephaly OMIM:268250
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, High palate, Wide anterior fontanel, Abnormality of the elbow, Micrognat... ORPHA:3098
Cataract-Intellectual Disability-Hypogonadism Syndrome
Brachycephaly, Cerebral cortical atrophy, High palate, Feeding difficulties in infancy, Micrognat... ORPHA:1387
Intestinal Dysmotility Syndrome
Decreased intestinal transit time, High palate, Diarrhea, Projectile vomiting, Abdominal distenti... OMIM:620045
Catel-Manzke Syndrome
Camptodactyly of finger, Micrognathia, Oral synechia, Malar flattening, Glossoptosis, Cleft palate ORPHA:1388
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Micrognathia, Cleft palate, Malar flattening, Glossoptosis, Osteoarthritis ORPHA:166100
Edict Syndrome
Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus OMIM:614303
Chromosome 22Q11.2 Duplication Syndrome
Micrognathia, Velopharyngeal insufficiency, High palate, Microcephaly OMIM:608363
Cleft Lip/Palate
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Poor suck, Agen... ORPHA:199306
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... OMIM:136800
Hereditary Central Diabetes Insipidus
Irritability, Polydipsia ORPHA:30925
Chromosome 16Q22 Deletion Syndrome
High palate, Wide anterior fontanel, Poor suck, Micrognathia, Frontal bossing, Microcephaly, Prom... OMIM:614541
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Abnormal mandible morphology, Joint dislocation, Hypodontia, Submucous c... ORPHA:3201
Parietal Foramina 1
Cleft upper lip, Parietal foramina, Macrocephaly, Cleft palate, Wormian bones OMIM:168500
Peroxisome Biogenesis Disorder 8A (Zellweger)
Feeding difficulties in infancy, Glossoptosis, Death in infancy OMIM:614876
Craniometadiaphyseal Dysplasia
Genu varum, Genu valgum, Mandibular prognathia, High palate, Wide anterior fontanel, Natal tooth,... OMIM:269300
Teebi Hypertelorism Syndrome 2
High palate, Wide anterior fontanel, Delayed eruption of teeth, Microdontia, Everted lower lip ve... OMIM:619736
Whistling Face Syndrome, Recessive Form
Knee flexion contracture, High palate, Long philtrum, Micrognathia, Elbow flexion contracture, Mi... OMIM:277720
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency, Nasal regurgitation, Dysphagia OMIM:617732
Bartsocas-Papas Syndrome 2
Wide anterior fontanel, Micrognathia, Prominent occiput, Axillary pterygium, Antecubital pterygiu... OMIM:619339
Trehalase Deficiency
Vomiting, Diarrhea, Malabsorption, Abdominal pain, Abdominal distention ORPHA:103909
Distal 17P13.1 Microdeletion Syndrome
Retrognathia, High palate, Limited elbow movement, Flat occiput, Limitation of knee mobility, Mic... ORPHA:319171
Leber Congenital Amaurosis 2
Cataract, Keratoconus, Eye poking OMIM:204100
Larsen-Like Syndrome
Brachycephaly, Dental malocclusion, Joint dislocation, Wide anterior fontanel, Macrocephaly, Fron... OMIM:608545
Orofaciodigital Syndrome Xix
Retrognathia, Lobulated tongue, Narrow palate, Cleft soft palate, High palate, Tongue nodules, Mi... OMIM:620107
Amish Lethal Microcephaly
Cleft soft palate, Death in infancy, Micrognathia, Lissencephaly, Microcephaly, Feeding difficult... ORPHA:99742
Osteopathia Striata-Cranial Sclerosis Syndrome
Retrognathia, Brachycephaly, Delayed cranial suture closure, Delayed eruption of teeth, Micrognat... ORPHA:2780
Brittle Cornea Syndrome 1
Decreased corneal thickness, Keratoconus, Keratoglobus, Abnormal cornea morphology OMIM:229200
Hypothyroidism, Congenital, Nongoitrous, 4
Feeding difficulties, Wide anterior fontanel, Macroglossia OMIM:275100
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Heart And Brain Malformation Syndrome
Camptodactyly of finger, Gastroesophageal reflux, Global brain atrophy, Wide anterior fontanel, T... OMIM:616920
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Brachycephaly, High palate, Long philtrum, Wide anterior fontanel, Abnormality of cranial sutures... ORPHA:163649
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Relative macrocephaly, Macroglossia, Congenital hip dislocation, Const... OMIM:614450
Auriculocondylar Syndrome 1
Dental malocclusion, Mandibular condyle hypoplasia, Micrognathia, Macrocephaly, Dental crowding, ... OMIM:602483
Athyreosis
Macroglossia, Abdominal distention, Large fontanelles, Constipation, Feeding difficulties ORPHA:95713
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Obtuse angle of mandible, High palate, Wide anterior fontanel, Thin calvarium, Micrognathia, Macr... ORPHA:85184
Gomez-Lopez-Hernandez Syndrome
Brachycephaly, Skull asymmetry, High palate, Wide anterior fontanel, Turricephaly, Agenesis of ce... OMIM:601853
Robinow Syndrome, Autosomal Dominant 2
Dental malocclusion, Cleft soft palate, Long philtrum, Wide mouth, Calvarial osteosclerosis, Micr... OMIM:616331
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Dysphagia, Knee flexion contracture, Cerebral atrophy, Tongue atrophy ORPHA:496689
Auriculocondylar Syndrome
Difficulty in tongue movements, Dental malocclusion, Mandibular condyle hypoplasia, Micrognathia,... ORPHA:137888
Dysostosis, Stanescu Type
Brachycephaly, Midface retrusion, Macroglossia, Cerebral calcification, Hypoplasia of the maxilla... ORPHA:1798
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Wide anterior fontanel, Micrognathia, Macrocephaly, Frontal bossing, Protuberant abdomen OMIM:618272
Thyroid Hemiagenesis
Constipation, Large fontanelles, Macroglossia, Abdominal distention ORPHA:95719
Clark-Baraitser syndrome
Genu valgum, Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated median tongue... OMIM:300602
Auriculocondylar Syndrome 3
Retrognathia, Micrognathia, Bifid uvula, Glossoptosis OMIM:615706
Coffin-Siris Syndrome 6
Retrognathia, Gastroesophageal reflux, Plagiocephaly, Deep philtrum, Micrognathia, Periventricula... OMIM:617808
Birk-Barel Syndrome
High palate, Feeding difficulties in infancy, Bifid uvula, Short philtrum, Microretrognathia, Sub... OMIM:612292
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Micrognathia, Microcephaly, Small anterior fontanelle, Cleft palate, Feeding difficulties, Glosso... OMIM:618356
Leber Congenital Amaurosis 1
Cataract, Keratoconus, Eye poking OMIM:204000
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Brachycephaly, Delayed cranial suture closure, Parietal foramina, Plagiocephaly, Wide anterior fo... ORPHA:85199
Leber Congenital Amaurosis 8
Cataract, Keratoconus, Eye poking OMIM:613835
Hemifacial Atrophy, Progressive
Dental malocclusion, Short mandibular rami, Tongue atrophy, Delayed eruption of teeth OMIM:141300
Cleidocranial Dysplasia
Brachycephaly, Delayed eruption of teeth, Micrognathia, Midface retrusion, Spina bifida occulta, ... ORPHA:1452
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Volvulus Of Midgut
Neonatal intestinal obstruction, Volvulus, Abdominal distention, Frontal bossing, Intestinal malr... OMIM:193250
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Multiple Epiphyseal Dysplasia, Lowry Type
Knee flexion contracture, Genu valgum, Fixed elbow flexion, Micrognathia, Dislocated radial head,... ORPHA:166016
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Thick lower lip vermilion, Bifid uvula, Submucous cleft hard palate, Supernumerary t... OMIM:617412
Isolated Childhood Apraxia Of Speech
Submucous cleft hard palate, Caudate atrophy, Abnormal caudate nucleus morphology, Feeding diffic... ORPHA:209908
Mucopolysaccharidosis, Type Ix
Synovitis, Bifid uvula, Submucous cleft hard palate, Popliteal synovial cyst, Acetabular erosions... OMIM:601492
Cutis Laxa, Autosomal Recessive, Type Iia
High palate, Long philtrum, Wide anterior fontanel, Feeding difficulties in infancy, Midface retr... OMIM:219200
Meier-Gorlin Syndrome 5
Gastroesophageal reflux, Long philtrum, Patellar aplasia, Micrognathia, Submucous cleft hard pala... OMIM:613805
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Wide anterior fontanel, Long philtrum, Plagiocephaly, Pyloric stenosis, Macrocephaly... ORPHA:457279
Pallister-Hall-Like Syndrome
Death in infancy, Micrognathia, Macrocephaly, Hip dislocation, Median cleft lip, Microglossia, Mi... OMIM:241800
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Pursed lips, Malar flattening,... OMIM:241310
Hypoglossia With Situs Inversus
High palate, Hypodontia, Feeding difficulties in infancy, Micrognathia, Malnutrition, Narrow mout... OMIM:612776
Qazi-Markouizos Syndrome
Chronic constipation, Delayed ossification of carpal bones, Abdominal distention, Hypoplasia of t... ORPHA:3010
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Abnormality of the philtrum, High palate, Delayed eruption of teeth, Bro... ORPHA:2863
Atkin-Flaitz Syndrome
Genu valgum, Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated median tongue... OMIM:300431
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Chronic diarrhea, Malabsorption, Abdominal pain, Abdominal distention, Dyspepsia, Nause... ORPHA:103907
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Gastroesophageal reflux, Pierre-Robin sequence, High palate, Micrognathia, Frontal bossing, Thin ... OMIM:613604
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Corneal stromal edema, Abnormal Descemet membrane morphology, Keratitis, Corneal... OMIM:613270
Epilepsy, Progressive Myoclonic, 9
Simplified gyral pattern, Microglossia, Agenesis of corpus callosum OMIM:616540
Robinow Syndrome, Autosomal Recessive 2
Long philtrum, Cleft soft palate, Micrognathia, Relative macrocephaly, Midface retrusion, Frontal... OMIM:618529
Lattice Corneal Dystrophy Type I
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... ORPHA:98964
Mitochondrial Complex I Deficiency, Nuclear Type 18
Feeding difficulties, Macrocephaly, Wide anterior fontanel, Death in infancy OMIM:618240
Spondylometaphyseal Dysplasia, Schmidt Type
Gastroesophageal reflux, Nasogastric tube feeding in infancy, Abnormality of the knee, Gastrostom... ORPHA:93316
Poirier-Bienvenu Neurodevelopmental Syndrome
Mandibular prognathia, Downturned corners of mouth, Protruding tongue, Smooth philtrum, Open mouth OMIM:618732
Treacher Collins Syndrome 3
Hypoplasia of the zygomatic bone, Cleft palate, Micrognathia, Malar flattening OMIM:248390
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Abdominal distention OMIM:616868
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Feeding difficulties, Bifid uvula, Submucous cleft hard palate, Microcephaly OMIM:619239
Six2-Related Frontonasal Dysplasia
Wide anterior fontanel, Absent/hypoplastic paranasal sinuses, Macrocephaly, Premature posterior f... ORPHA:488437
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Hypomandibular Faciocranial Dysostosis
Brachycephaly, Aplasia/Hypoplasia of the tongue, Death in infancy, Bifid uvula, Midface retrusion... ORPHA:1790
Joubert Syndrome 18
Retrognathia, Lobulated tongue, Arrhinencephaly, Cleft palate, Trident pelvis, Agenesis of cerebe... OMIM:614815
Intellectual Developmental Disorder, Autosomal Dominant 58
High palate, Plagiocephaly, Wide mouth, Submucous cleft hard palate, Protruding tongue, Microceph... OMIM:618106
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Retrognathia, Skull asymmetry, Bifid uvula, Lissencephaly, Secondary microcephaly, Protruding ton... OMIM:612938
Antley-Bixler Syndrome
Brachycephaly, Delayed cranial suture closure, Camptodactyly of finger, Long philtrum, Turricepha... ORPHA:83
Pontocerebellar Hypoplasia, Type 1B
Tongue atrophy, Hip dislocation, Progressive microcephaly, Cerebral atrophy, Tongue fasciculation... OMIM:614678
Faciocardiomelic Dysplasia, Lethal
Retrognathia, Micrognathia, Narrow mouth, Microglossia, Neonatal death OMIM:227270
Craniolenticulosutural Dysplasia
Gastroesophageal reflux, Delayed closure of the anterior fontanelle, High palate, Wide anterior f... OMIM:607812
Orofaciodigital Syndrome V
Lobulated tongue, Bifid tongue, High palate, Hypodontia, Aganglionic megacolon, Bifid uvula, Anky... OMIM:174300
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Alveolar process hypoplasia, Eruption failure, Genu valgum, Delayed eruption of primary teeth, Mu... OMIM:273050
Dermatitis, Atopic
Conjunctivitis, Cataract, Keratoconus OMIM:603165
Hartnup Disorder
Glossitis OMIM:234500
8Q22.1 Microdeletion Syndrome
Camptodactyly of finger, Long philtrum, Submucous cleft hard palate, Hypoplasia of the maxilla, M... ORPHA:178303
Brachydactyly, Type B1
Delayed cranial suture closure, Vertebral fusion, Wide anterior fontanel, Joint contracture of th... OMIM:113000
Mohr Syndrome
Lobulated tongue, Bifid tongue, High palate, Tongue nodules, Micrognathia, Porencephalic cyst, Me... OMIM:252100
Oculofaciocardiodental Syndrome
Genu valgum, Tooth malposition, Long philtrum, Delayed eruption of teeth, Feeding difficulties in... ORPHA:2712
Marshall Syndrome
Thick upper lip vermilion, Brachycephaly, Genu valgum, High palate, Long philtrum, Hypoplastic fr... ORPHA:560
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachycephaly, Delayed cranial suture closure, Mandibular prognathia, Abnormality of the wrist, L... ORPHA:2511
Smith-Kingsmore Syndrome
Hemimegalencephaly, Perisylvian polymicrogyria, Wide anterior fontanel, Wide mouth, Long philtrum... OMIM:616638
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Microdontia, Macrocephaly, Abnormality of the wrist, Microretrognathia, Hypoplasia o... ORPHA:1307
Lethal Omphalocele-Cleft Palate Syndrome
Retrognathia, Cleft soft palate, Bifid uvula, Cleft palate, Unilateral cleft lip ORPHA:2736
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, High palate, Brachyturricephaly, Delayed eruption of teeth, Micrognath... OMIM:613849
Hydrolethalus
Retrognathia, Gingival cleft, Micrognathia, Arrhinencephaly, Bifid uvula, Submucous cleft hard pa... ORPHA:2189
Craniosynostosis 6
Brachycephaly, Delayed cranial suture closure, Parietal foramina, Plagiocephaly, Turricephaly, Ri... OMIM:616602
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Micrognathia, Dental crowding, Everted lower lip vermilion, Hy... OMIM:616367
Acrocallosal Syndrome
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Wide anterior fo... ORPHA:36
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Mandibular prognathia, Poor suck, Wide mouth, Widely spaced teeth, Cessation of head growth, Seco... ORPHA:98795
Angelman Syndrome Due To A Point Mutation
Mandibular prognathia, Mild microcephaly, Poor suck, Wide mouth, Widely spaced teeth, Cessation o... ORPHA:411511
Marden-Walker Syndrome
Hypoplasia of the brainstem, High palate, Wide anterior fontanel, Long philtrum, Joint contractur... OMIM:248700
Opitz Gbbb Syndrome
Gastroesophageal reflux, Cleft upper lip, High palate, Wide anterior fontanel, Agenesis of corpus... OMIM:300000
Colonic Atresia
Colonic atresia, Abdominal distention OMIM:303650
Seckel Syndrome 2
Cerebellar hypoplasia, Microdontia, Micrognathia, Microglossia, Microcephaly OMIM:606744
Acrofrontofacionasal Dysostosis 2
Brachycephaly, High palate, Wide anterior fontanel, Microcephaly OMIM:239710
Developmental And Speech Delay Due To Sox5 Deficiency
Gastroesophageal reflux, Vertebral fusion, Narrow palate, Exaggerated median tongue furrow, Hyper... ORPHA:313892
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Malabsorption, Abdominal pain, Abdominal distention, Abnormal cerebral white matter morphology, M... OMIM:613662
Bardet-Biedl Syndrome 9
Astigmatism, Cataract, Polyphagia, Polydipsia OMIM:615986
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Lobulated tongue, Abnormal periventricular white matter morphology, Short philtrum, Abnormal cere... OMIM:613443
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Brachycephaly, Gastroesophageal reflux, Skull asymmetry, Long philtrum, Velopharyngeal insufficie... OMIM:614701
Orofaciodigital Syndrome Iv
Lobulated tongue, High palate, Tongue nodules, Micrognathia, Porencephalic cyst, Cerebral atrophy... OMIM:258860
Chromosome 17Q12 Duplication Syndrome
Micrognathia, Cleft soft palate, Smooth philtrum, Esophageal atresia OMIM:614526
Cole-Carpenter Syndrome 2
Dentinogenesis imperfecta, High palate, Turricephaly, Coronal craniosynostosis, Macrocephaly, Mid... OMIM:616294
Acrocallosal Syndrome
Everted upper lip vermilion, Bifid uvula, Abnormal oral frenulum morphology, Prominent occiput, S... OMIM:200990
Microcephaly 30, Primary, Autosomal Recessive
Cerebral cortical atrophy, Pierre-Robin sequence, Cleft soft palate, Primary microcephaly, Thin u... OMIM:620183
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Dysphagia, Tongue atrophy OMIM:613435
Congenital Disorder Of Glycosylation, Type If
Wide anterior fontanel, Death in infancy, Parietal bossing, Microcephaly, Cerebral atrophy, Thin ... OMIM:609180
Congenital Sucrase-Isomaltase Deficiency
Abdominal colic, Vomiting, Diarrhea, Abdominal distention ORPHA:35122
Lipoid Proteinosis
High palate, Tongue nodules, Thick lower lip vermilion, Cerebral calcification, Abnormal oral muc... ORPHA:530
9q subtelomeric deletion syndrome
Protruding tongue, Midface retrusion, Microcephaly DECIPHER:52
Angelman Syndrome
Brachycephaly, Mandibular prognathia, Cerebral cortical atrophy, Wide mouth, Widely spaced teeth,... OMIM:105830
Grant Syndrome
Brachycephaly, Joint dislocation, Micrognathia, Frontal bossing, Abnormal palate morphology, Larg... ORPHA:2097
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Van Maldergem Syndrome 1
Irregular dentition, Dental malocclusion, High palate, Wide anterior fontanel, Simplified gyral p... OMIM:601390
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Micrognathia, Supernumerary tooth, Cerebral calcification, Hypoplasia of the zygomatic bone, Cari... ORPHA:3145
Zellweger Syndrome
Hepatic failure, High palate, Wide anterior fontanel, Death in infancy, Malabsorption, Feeding di... ORPHA:912
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Cleft mandible, High palate, Pierre-Robin sequence, Long philtrum, Exaggerated median tongue furr... OMIM:608670
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Mandibular prognathia, Mild microcephaly, Poor suck, Wide mouth, Widely spaced teeth, Limitation ... ORPHA:98794
Cree Mental Retardation Syndrome
Brachycephaly, Micrognathia, Large fontanelles, Cleft soft palate OMIM:606851
Cerebrocostomandibular Syndrome
Gastroesophageal reflux, Pierre-Robin sequence, Cleft soft palate, High palate, Long philtrum, Mi... OMIM:117650
Acrofacial Dysostosis Syndrome Of Rodriguez
High palate, Wide anterior fontanel, Micrognathia, Short philtrum, Narrow mouth OMIM:201170
Schilbach-Rott Syndrome
Micrognathia, Bifid uvula, Submucous cleft hard palate, Narrow mouth, Microcephaly OMIM:164220
Central Diabetes Insipidus
Polydipsia, Anxiety ORPHA:178029
Rhizomelic Chondrodysplasia Punctata, Type 2
High palate, Micrognathia, Submucous cleft hard palate, Midface retrusion, Optic nerve hypoplasia... OMIM:222765
Burning Mouth Syndrome
Abnormality of taste sensation, Strawberry tongue, Tongue pain, Parageusia, Xerostomia, Smooth to... ORPHA:353253
Orofaciodigital Syndrome Xv
Lobulated tongue, Midline notch of upper alveolar ridge, Agenesis of corpus callosum, Cerebellar ... OMIM:617127
Leber Congenital Amaurosis
Cataract, Keratoconus ORPHA:65
Pycnodysostosis
Narrow palate, Delayed eruption of primary teeth, Hypodontia, Micrognathia, Prominent occiput, Fr... OMIM:265800
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Vomiting, Feeding difficulties in infancy, Pyloric stenosis... OMIM:300048
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Neonatal Adrenoleukodystrophy
Abnormal palate morphology, Macrocephaly, Dolichocephaly, Wide anterior fontanel ORPHA:44
Lowry-Maclean Syndrome
Midgut malrotation, Talon cusp, Retrognathia, Aplasia/Hypoplasia of the corpus callosum, Delayed ... ORPHA:2409
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology, Nausea ORPHA:97230
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Retrognathia, Cleft soft palate, Primary microcephaly, Periventricular leukomalacia, Short philtr... ORPHA:293725
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, Gastroesophageal reflux, High palate, Short philtrum, Everted lower lip vermilion, ... OMIM:616449
Meckel Syndrome, Type 8
Cleft palate, Cleft upper lip, Microcephaly, Abdominal distention OMIM:613885
Pfeiffer Syndrome
Mandibular prognathia, High palate, Turricephaly, Synostosis of carpal bones, Short philtrum, Hyp... ORPHA:710
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Platybasia, Microcephaly, Decreased calvarial ossification, Stillbirth, Wormian bones OMIM:259410
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Desmosterolosis
Retrognathia, Abnormal cortical gyration, Micrognathia, Macrogyria, Bifid uvula, Submucous cleft ... ORPHA:35107
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Protrusio acetabuli, Wide anterior fontanel, Micrognathia, Platybasia,... OMIM:259420
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Diarrhea 12, With Microvillus Atrophy
Vomiting, Villous atrophy, Dependency on parenteral nutrition, Microvillus inclusions, Abdominal ... OMIM:619445
Arthrogryposis, Distal, Type 5D
Limited elbow movement, Tongue atrophy, Micrognathia, Elbow flexion contracture, Limited knee fle... OMIM:615065
Carey-Fineman-Ziter Syndrome
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Hi... ORPHA:1358
Acrofacial Dysostosis, Catania Type
Feeding difficulties in infancy, Microretrognathia, Spina bifida occulta, Abnormal palate morphol... ORPHA:1786
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hepatic failure, Scaphocephaly, Delayed closure of the anterior fontanelle, Wide anterior fontane... OMIM:614886
Autosomal Recessive Cutis Laxa Type 2A
Delayed cranial suture closure, Long philtrum, Wide anterior fontanel, Primary microcephaly, Fron... ORPHA:357058
Permanent Congenital Hypothyroidism
Macroglossia, Abdominal distention, Large fontanelles, Constipation, Feeding difficulties ORPHA:226292
Raine Syndrome
Brachycephaly, Plagiocephaly, Microdontia, Micrognathia, Midface retrusion, Large fontanelles, Cl... OMIM:259775
Atresia Of Small Intestine
Vomiting, Jejunal atresia, Abdominal distention, Intestinal malrotation, Intestinal hypoplasia, F... ORPHA:1201
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Mandibular prognathia, Wide mouth, Thick lower lip vermilion, Submucous cle... OMIM:619103
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Lobulated tongue, Bifid tongue, Natal tooth, Cerebellar hypoplasia, Hypoplastic facial bones, Mid... OMIM:616300
Atypical Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Tongue atrophy ORPHA:216873
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Frontal bossing, Death in childhood, Wide anterior fontanel, Death in infancy OMIM:619064
Tetrasomy 12P
Thick upper lip vermilion, Long philtrum, Delayed eruption of teeth, Anal atresia, Frontal bossin... ORPHA:884
Achondrogenesis Type 1A
Long philtrum, Micrognathia, Macrocephaly, Abdominal distention, Frontal bossing ORPHA:93299
Cronkhite-Canada Syndrome
Stomach cancer, Diarrhea, Malabsorption, Abdominal pain, Macrocephaly, Intestinal polyposis, Anor... ORPHA:2930
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Jejunal atresia, Death in infancy, Hypodontia, Fee... ORPHA:989
Sweeney-Cox Syndrome
Brachycephaly, Gastroesophageal reflux, High palate, Wide anterior fontanel, Cerebellar hypoplasi... OMIM:617746
Loeys-Dietz Syndrome 5
Retrognathia, Brachycephaly, Congenital finger flexion contractures, High palate, Cleft soft pala... OMIM:615582
9Q21.13 Microdeletion Syndrome
Aplasia/Hypoplasia of the corpus callosum, Downturned corners of mouth, Abnormal tongue morpholog... ORPHA:531151
Anauxetic Dysplasia 3
Retrognathia, Gastroesophageal reflux, Hip subluxation, Genu valgum, Plagiocephaly, Wide anterior... OMIM:618853
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Micrognathia, Midface retrusion, Frontal bossing, Cleft palate, Glossoptosis ORPHA:440354
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Hypoplasia of the zygomatic bone, Long philtrum, Frontal bossing ORPHA:3074
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Long philtrum, Submucous cleft hard palate, Dolichocephaly, Frontal bossing, Thin up... OMIM:612863
Cleidocranial Dysplasia 2
Genu valgum, Plagiocephaly, Wide anterior fontanel, Delayed eruption of primary teeth, Delayed os... OMIM:620099
Osteogenesis Imperfecta, Type Xx
Retrognathia, Brachycephaly, Mandibular prognathia, High palate, Narrow palate, Plagiocephaly, Mi... OMIM:618644
Cdags Syndrome
Brachycephaly, Sagittal craniosynostosis, Parietal foramina, Delayed cranial suture closure, Coro... OMIM:603116
Arthrogryposis, Distal, Type 3
Camptodactyly of finger, Knee flexion contracture, High palate, Micrognathia, Bifid uvula, Submuc... OMIM:114300
Mulibrey Nanism
Enamel hypoplasia, Dental malocclusion, Hypoplastic frontal sinuses, Hypodontia, Dolichocephaly, ... OMIM:253250
Nager Syndrome
Non-midline cleft lip, Wide mouth, Micrognathia, Hypoplasia of the maxilla, Abnormal palate morph... ORPHA:245
Peroxisome Biogenesis Disorder 11A (Zellweger)
Wide anterior fontanel, Lissencephaly, Large fontanelles, Decreased liver function, Polymicrogyria OMIM:614883
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Narrow palate, Turricephaly, Midface retrusion, Dolichocephaly, Anteriorly placed anus, Cloverlea... ORPHA:1555
Deafness-Craniofacial Syndrome
Bifid tongue, Short lingual frenulum, Short philtrum, Frontal bossing, Abnormal palate morphology... ORPHA:3241
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Genu varum, Mandibular prognathia, Downturned corners of mouth, Narrow mouth, Hypoplasia of the z... ORPHA:1110
Fibrochondrogenesis 1
Long philtrum, Wide anterior fontanel, Joint contracture of the hand, Widely patent sagittal sutu... OMIM:228520
Cohen Syndrome
Genu valgum, Aplasia/Hypoplasia of the tongue, High, narrow palate, Feeding difficulties in infan... ORPHA:193
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Cerebral calcification, Feeding difficulties, Midface retrusion, Wide anterior fontanel OMIM:617241
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Retrognathia, Plagiocephaly, Esophageal atresia, Fused cervical vertebrae, Submucous cleft hard p... OMIM:619227
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Macrocephaly, Wide anterior fontanel, Wormian bones OMIM:601356
Facioscapulohumeral Muscular Dystrophy 1
Dysphagia, Tongue atrophy OMIM:158900
Hirschsprung Disease, Susceptibility To, 1
Vomiting, Enterocolitis, Aganglionic megacolon, Abdominal distention, Constipation, Abnormality o... OMIM:142623
Achondrogenesis, Type Ii
Brachycephaly, Long philtrum, Microretrognathia, Frontal bossing, Stillbirth, Cleft palate, Protu... OMIM:200610
Gillessen-Kaesbach-Nishimura Syndrome
Retrognathia, Brachycephaly, Wide anterior fontanel, Micrognathia, Microcephaly, Smooth philtrum OMIM:263210
Lethal Kniest-Like Dysplasia
Cleft palate, Macrocephaly, Wide anterior fontanel, Protuberant abdomen ORPHA:2347
Neu-Laxova Syndrome
Micrognathia, Bifid uvula, Prominent occiput, Lissencephaly, Everted lower lip vermilion, Cleft p... ORPHA:2671
Cleft Soft Palate
Cleft soft palate OMIM:119570
Stickler Syndrome, Type I
Pierre-Robin sequence, Arthropathy, Micrognathia, Arthritis, Bifid uvula, Submucous cleft hard pa... OMIM:108300
Orofaciodigital Syndrome Type 10
Retrognathia, Long philtrum, Cleft soft palate, Micrognathia, Metatarsal synostosis, Accessory or... ORPHA:2756
Cleft Palate With Or Without Ankyloglossia, X-Linked
Cleft palate, Ankyloglossia, Bifid uvula OMIM:303400
Ritscher-Schinzel Syndrome 3
Wide anterior fontanel, Death in infancy, Micrognathia, Relative macrocephaly, Thin upper lip ver... OMIM:619135
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cerebral cortical atrophy, High palate, Wide anterior fontanel, Brachyturricephaly, Aplasia/Hypop... OMIM:214100
Lessel-Kreienkamp Syndrome
Gastroesophageal reflux, Dental malocclusion, Scaphocephaly, Plagiocephaly, Frontal bossing, Thin... OMIM:619149
Tarp Syndrome
High palate, Tongue nodules, Cerebellar hypoplasia, Micrognathia, Abnormal corpus callosum morpho... OMIM:311900
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Cleft mandible, Pierre-Robin sequence, Prominence of the zygomatic bone, Oligodontia, Prominent m... ORPHA:364577
Vertebral Hypersegmentation And Orofacial Anomalies
Micrognathia, Midface retrusion, Submucous cleft hard palate, Prominent occiput, Unilateral cleft... OMIM:619122
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Orofaciodigital Syndrome Iii
Bifid tongue, Tongue nodules, Microdontia, Bifid uvula, Supernumerary tooth OMIM:258850
Toluene Embryopathy
Micrognathia, Biparietal narrowing, Microcephaly, Smooth philtrum, Hypoplasia of the zygomatic bo... ORPHA:1920
Tetraamelia Syndrome 2
Bilateral cleft lip, Ankyloglossia, Micrognathia, Microretrognathia, Cleft palate, Glossoptosis OMIM:618021
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Trisomy 8Q
Camptodactyly of finger, Non-midline cleft lip, Bifid tongue, High palate, Micrognathia, Abnormal... ORPHA:1752
Brittle Cornea Syndrome
Keratoglobus, Corneal erosion, Corneal scarring, Decreased corneal thickness, Corneal dystrophy ORPHA:90354
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Retrognathia, Aplasia/Hypoplasia of the cerebellum, Microdontia, Feeding difficulties in infancy,... ORPHA:1812
Plummer-Vinson Syndrome
Esophageal web, Tongue atrophy, Poor appetite, Abdominal pain, Glossitis, Narrow mouth, Intra-ora... ORPHA:54028
Carey-Fineman-Ziter Syndrome 1
Retrognathia, Gastroesophageal reflux, Hypoplasia of the brainstem, High palate, Pierre-Robin seq... OMIM:254940
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Submucous cleft hard palate, Trismus OMIM:609166
Kleefstra Syndrome 1
Brachycephaly, Gastroesophageal reflux, Mandibular prognathia, Natal tooth, Midface retrusion, Ma... OMIM:610253
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate OMIM:119300
Retinitis Pigmentosa
Cataract, Keratoconus ORPHA:791
Agnathia-Otocephaly Complex
Mandibular aplasia, Micrognathia, Microglossia, Narrow mouth, Cleft palate, Aglossia, Agenesis of... OMIM:202650
Opitz-Kaveggia Syndrome
Delayed closure of the anterior fontanelle, Plagiocephaly, Micrognathia, Cleft palate, Postnatal ... OMIM:305450
Familial Cold Urticaria
Conjunctivitis, Polydipsia ORPHA:47045
Developmental And Epileptic Encephalopathy 80
High palate, Long philtrum, Wide mouth, Death in infancy, Micrognathia, Abnormal cerebral white m... OMIM:618580
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Vomiting, Decreased intestinal transit time, Projectile vom... OMIM:615237
Marbach-Rustad Progeroid Syndrome
Eruption failure, Delayed eruption of primary teeth, Hyperintensity of cerebral white matter on M... OMIM:619322
X-Linked Mandibulofacial Dysostosis
High palate, Branchial anomaly, Micrognathia, Microcephaly, Hypoplasia of the zygomatic bone ORPHA:1131
Cutis Laxa, Autosomal Recessive, Type Iib
Gastroesophageal reflux, High palate, Long philtrum, Agenesis of corpus callosum, Midface retrusi... OMIM:612940
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Cerebral cortical atrophy, Micrognathia, Bifid uvula, Abnormal oral fren... ORPHA:2753
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Nasogastric tube feeding in infancy, Bifid tongue, Exaggerated median tongue furrow, Feeding diff... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Nasogastric tube feeding in infancy, Bifid tongue, Exaggerated median tongue furrow, Feeding diff... ORPHA:352665
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Feeding difficulties in infancy, Macroglossia, Abdominal distention, Large posterior fontanelle, ... ORPHA:226313
Congenital Disorder Of Glycosylation, Type Iig
Pierre-Robin sequence, High palate, Long philtrum, Feeding difficulties in infancy, Micrognathia,... OMIM:611209
Donnai-Barrow Syndrome
Intestinal malrotation, Macrocephaly, Aplasia/Hypoplasia of the corpus callosum, Wide anterior fo... ORPHA:2143
Congenital Disorder Of Glycosylation, Type Ih
Vomiting, Long philtrum, Diarrhea, Death in infancy, Abdominal distention, Large fontanelles, Dec... OMIM:608104
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Bifid tongue, Micrognathia, Intestinal malrotation, Flat occiput, Bilateral cleft lip and palate ORPHA:2001
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, High palate, Micrognathia, Macrocephaly, Diastema, Hypoplasia of the maxil... OMIM:300534
Shprintzen-Goldberg Craniosynostosis Syndrome
Dental malocclusion, Gastroesophageal reflux, Genu valgum, High palate, Narrow palate, Wide anter... OMIM:182212
Bifid Uvula
Submucous cleft soft palate, Bifid uvula, Cleft lip ORPHA:99771
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
W Syndrome
Agenesis of maxillary central incisor, Upper lip pit, Submucous cleft hard palate, Elbow dislocat... ORPHA:2804
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Enamel hypoplasia, High palate, Ankyloglossia, Macrocephaly, Polymicrogyria, Thin upper lip vermi... OMIM:618874
Pycnodysostosis
Delayed cranial suture closure, Dental malocclusion, Enamel hypoplasia, Obtuse angle of mandible,... ORPHA:763
Flat Face-Microstomia-Ear Anomaly Syndrome
Camptodactyly of finger, Long philtrum, Micrognathia, Abnormal oral mucosa morphology, Narrow mou... ORPHA:1968
Mpdu1-Cdg
Wide anterior fontanel, Prominent frontal sinuses, Parietal bossing, Thin vermilion border, Feedi... ORPHA:79323
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Plagiocephaly, Turricephaly, Aganglionic megacolon, Macrocephaly, Short ph... OMIM:613603
Ear-Patella-Short Stature Syndrome
Retrognathia, Camptodactyly of finger, Mandibular aplasia, Patellar aplasia, Craniosynostosis, Mi... ORPHA:2554
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Anterior Segment Dysgenesis 6
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... OMIM:617315
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gastroesophageal reflux, Nasogastric tube feeding in infancy, High palate, Branchial anomaly, Pla... ORPHA:453499
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatic failure, Death in infancy, Abdominal distention, Hypoplasia of the corpus callosum, Feedi... OMIM:618528
Van Maldergem Syndrome 2
Irregular dentition, Dental malocclusion, Hip subluxation, High palate, Wide anterior fontanel, M... OMIM:615546
Idiopathic Congenital Hypothyroidism
Delayed cranial suture closure, Feeding difficulties in infancy, Macroglossia, Large posterior fo... ORPHA:95717
Orofaciodigital Syndrome I
Bifid tongue, Median cleft lip, Alveolar ridge overgrowth, Cleft palate, Abnormal cortical gyrati... OMIM:311200
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue, Camptodactyly of finger ORPHA:2928
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, High palate, Death in infancy, Micrognathia, Midface retrusion, Abdominal disten... OMIM:235255
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Pierre-Robin sequence, Wide anterior fontanel, Cerebellar hypoplasia, Micrognathia, Anteriorly pl... OMIM:217980
Acquired Hypertrichosis Lanuginosa
Poor appetite, Chronic diarrhea, Glossitis, Macroglossia ORPHA:2221
Congenital Pancreatic Cyst
Anorexia, Abdominal pain, Vomiting, Abdominal distention ORPHA:313906
Dubowitz Syndrome
Delayed cranial suture closure, Aplasia/Hypoplasia of the corpus callosum, High palate, Wide ante... ORPHA:235
Cerebrocostomandibular Syndrome
Death in infancy, Micrognathia, Porencephalic cyst, Cerebral calcification, Hydranencephaly, Micr... ORPHA:1393
Walker-Warburg Syndrome
Abnormal cortical gyration, Cerebellar hypoplasia, Macrogyria, Bifid uvula, Submucous cleft hard ... ORPHA:899
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Genu valgum, Mandibular prognathia, Cubitus valgus, Large fontanelles, Smooth philtrum, Hypoplasi... ORPHA:1778
Microcephaly 26, Primary, Autosomal Dominant
Long philtrum, Simplified gyral pattern, Chronic constipation, Protruding tongue, Microcephaly, P... OMIM:619179
Orofaciodigital Syndrome Type 6
Lobulated tongue, Aplasia/Hypoplasia of the corpus callosum, High palate, Tongue nodules, Feeding... ORPHA:2754
Cowden Syndrome 5
Colonic diverticula, High palate, Micrognathia, Hypoplasia of the maxilla, Narrow mouth, Progress... OMIM:615108
Isolated Polycystic Liver Disease
Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal pain, Abdominal distention, G... ORPHA:2924
Arthrogryposis, Distal, Type 5
Astigmatism, Keratoglobus, Keratoconus OMIM:108145
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft upper lip, Hypodontia, Abnormality of dental morphology, Anodontia, Micrognathia, Midface r... ORPHA:3253
Treacher-Collins Syndrome
Brachycephaly, Micrognathia, Midface retrusion, Tooth agenesis, Cleft palate, Glossoptosis, Abnor... ORPHA:861
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Agenesis of lateral incisor, Selective tooth agenesis, Hypodontia, Anodon... OMIM:313500
Robinow Syndrome, Autosomal Dominant 1
Bifid tongue, Delayed eruption of teeth, Short lingual frenulum, Micrognathia, Midface retrusion,... OMIM:180700
Mitochondrial Neurogastrointestinal Encephalomyopathy
Leukoencephalopathy, Gastroesophageal reflux, Vomiting, Diarrhea, Small intestinal dysmotility, P... ORPHA:298
Branchioskeletogenital Syndrome
Brachycephaly, Thickened calvaria, Mandibular prognathia, Craniosynostosis, Bifid uvula, Submucou... ORPHA:1299
Cap Polyposis
Atrophic gastritis, Colorectal polyposis, Diarrhea, Abdominal pain, Abdominal distention, Constip... ORPHA:160148
Mandibuloacral Dysplasia
Delayed cranial suture closure, High palate, Micrognathia, Abnormal tongue morphology, Dental cro... ORPHA:2457
Cardiofaciocutaneous Syndrome 1
Hypoplasia of the frontal lobes, Cerebral cortical atrophy, Feeding difficulties in infancy, Micr... OMIM:115150
Sialuria
High palate, Long philtrum, Macrocephaly, Macroglossia, Frontal bossing, Thin upper lip vermilion... OMIM:269921
Apert Syndrome
Brachycephaly, Delayed cranial suture closure, Ectopic anus, Delayed eruption of teeth, Humerorad... OMIM:101200
Corneal Dystrophy, Posterior Polymorphous, 1
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... OMIM:122000
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Cleft soft palate, Micrognathia, Submucous cleft soft palate, Microcephaly, Feeding difficulties ORPHA:2282
Tetrasomy 5P
High palate, Long philtrum, Wide anterior fontanel, Cerebellar hypoplasia, Micrognathia, Macrocep... ORPHA:3309
Holoprosencephaly 7
Cranial asymmetry, Hypoplasia of the brainstem, Hypoplasia of the premaxilla, Bilateral cleft lip... OMIM:610828
Familial Visceral Myopathy
Camptodactyly of finger, Micrognathia, Aganglionic megacolon, Abdominal distention, Microcephaly,... ORPHA:2604
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
Leber Congenital Amaurosis 9
Keratoconus, Eye poking OMIM:608553
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Delayed closure of the anterior fontanelle, Dolichocephaly, Limited el... OMIM:604922
Schneckenbecken Dysplasia
Advanced ossification of carpal bones, Flat acetabular roof, Midface retrusion, Macrocephaly, Sti... OMIM:269250
Holzgreve Syndrome
Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the tongue, Bifid tongue, Turric... ORPHA:2167
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Brachycephaly, Cleft soft palate, Microdontia, Chronic constipation, Smooth philtrum, Cleft palat... OMIM:619950
Native American Myopathy
Gastroesophageal reflux, High palate, Micrognathia, Bifid uvula, Submucous cleft soft palate, Dow... ORPHA:168572
Pediatric-Onset Graves Disease
Hyperactivity, Emotional lability, Polyphagia, Keratitis, Irritability, Polydipsia ORPHA:525731
Orofaciodigital Syndrome Type 1
Lip pit, Micrognathia, Median cleft lip, Odontogenic neoplasm, Cleft palate, Abnormal dental enam... ORPHA:2750
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Irritability, Polydipsia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Irritability, Polydipsia OMIM:304800
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Micrognathia, Delayed ossification of carpal bones, Glossoptosis ORPHA:93346
1Q41Q42 Microdeletion Syndrome
Frontal bossing, Cleft palate, Submucous cleft hard palate, Thick vermilion border ORPHA:250999
Buratti-Harel Syndrome
Gastroesophageal reflux, High palate, Velopharyngeal insufficiency, Bifid uvula, Submucous cleft ... OMIM:619314
Cowden Syndrome 6
Colonic diverticula, High palate, Micrognathia, Hypoplasia of the maxilla, Narrow mouth, Progress... OMIM:615109
Robinow Syndrome, Autosomal Recessive 1
Delayed cranial suture closure, Bifid tongue, Micrognathia, Midface retrusion, Dislocated radial ... OMIM:268310
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Delayed cranial suture closure, Micrognathia, Midface retrusion, Frontal bossing, Thin calvarium,... ORPHA:1129
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Diarrhea, Malabsorption, Micrognathia, Macroglossia, Protruding tongue, Sinusitis, Malar flattening OMIM:242860
Frontorhiny
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Bifid tongue, Hypoplastic fro... ORPHA:391474
Lelis Syndrome
Mandibular prognathia, Hypodontia, Midface retrusion, Carious teeth, Furrowed tongue ORPHA:140936
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Delayed closure of the anterior fontanelle, Wide anterior fontanel, Gingival hyperkeratosis, Hypo... OMIM:225410
Kinsship Syndrome
Gastroesophageal reflux, Mandibular prognathia, Wide mouth, Widely spaced teeth, Thick lower lip ... OMIM:619297
Congenital Disorder Of Glycosylation, Type Iia
Retrognathia, Brachycephaly, Wide mouth, Macrocephaly, Diastema, Everted lower lip vermilion, Pro... OMIM:212066
Adiposis Dolorosa
Constipation, Abdominal distention OMIM:103200
Treacher Collins Syndrome 2
Retrognathia, Fusion of middle ear ossicles, Micrognathia, Microretrognathia, Hypoplasia of the z... OMIM:613717
White-Sutton Syndrome
Brachycephaly, Gastroesophageal reflux, Mandibular prognathia, High palate, Poor suck, Micrognath... OMIM:616364
3Mc Syndrome 1
Cleft upper lip, Skull asymmetry, Wide anterior fontanel, Coronal craniosynostosis, Dental crowdi... OMIM:257920
Zttk Syndrome
Feeding difficulties in infancy, Bifid uvula, Midface retrusion, Chronic diarrhea, Feeding diffic... OMIM:617140
Turnpenny-Fry Syndrome
Brachycephaly, Plagiocephaly, Microdontia, Feeding difficulties in infancy, Chronic constipation,... OMIM:618371
Platyspondylic Dysplasia, Torrance Type
Genu varum, Abnormal carpal morphology, Abdominal distention, Cleft palate, Malar flattening ORPHA:85166
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Non-midline cleft lip, Delayed eruption of teeth, Widely spaced teeth, Hypodontia,... ORPHA:1071
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Enamel hypoplasia, Knee flexion contracture, Mandibular prognathi... OMIM:151050
Moebius Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Death in infancy, Microdontia, Feeding difficultie... ORPHA:570
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, Mandibular prognathia, Short philtrum, Everted lower lip vermilion, Tented upper li... ORPHA:464738
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
High palate, Long philtrum, Prominent occiput, Hypoplasia of the zygomatic bone, Microcephaly, Hy... OMIM:618500
Otospondylomegaepiphyseal Dysplasia
Micrognathia, Bifid uvula, Midface retrusion, Enlarged joints, Cleft palate, Abnormal joint morph... ORPHA:1427
Marbach-Schaaf Neurodevelopmental Syndrome
Plagiocephaly, Submucous cleft hard palate, Thin upper lip vermilion, Downturned corners of mouth... OMIM:619680
Contractures-Developmental Delay-Pierre Robin Syndrome
Wrist flexion contracture, Micrognathia, Radioulnar synostosis, Cerebral white matter hypoplasia,... ORPHA:436003
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Gastroesophageal reflux, Wide mouth, Widely spaced teeth, Increased head circumference, Thick cor... OMIM:300967
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Hypoplasia of the zygomatic bone, Malar flattening, Macrocephaly ORPHA:2835
Marshall-Smith Syndrome
Retrognathia, Cerebellar hypoplasia, Craniosynostosis, Protruding tongue, Open mouth, Gingival ov... ORPHA:561
Thyroid Hypoplasia
Constipation, Large fontanelles, Macroglossia, Abdominal distention ORPHA:95720
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Mandibular prognathia, Wide mouth, Elbow ankylosis, Bifid uvula, ... ORPHA:2658
Orofaciodigital Syndrome Type 2
Talon cusp, Bifid tongue, High palate, Natal tooth, Tongue nodules, Unilateral alveolar cleft of ... ORPHA:2751
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Brachycephaly, Wide anterior fontanel, Natal tooth, Micrognathia, Anal atresia, Frontal bossing, ... OMIM:617925
Au-Kline Syndrome
Retrognathia, Dental malocclusion, Gastroesophageal reflux, Sagittal craniosynostosis, Bifid tong... OMIM:616580
Glucose/Galactose Malabsorption
Malabsorption, Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea OMIM:606824
Congenital Disorder Of Glycosylation, Type Iie
Retrognathia, Gastroesophageal reflux, Death in infancy, Primary microcephaly, Micrognathia, Prog... OMIM:608779
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Brachycephaly, Gastrostomy tube feeding in infancy, Wide mouth, Protruding tongue, Flat occiput, ... OMIM:618797
Hereditary Folate Malabsorption
Gastroesophageal reflux, Diarrhea, Nausea and vomiting, Glossitis, Cerebral calcification, Anorex... ORPHA:90045
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Vomiting, Diarrhea, Malabsorption, Abdominal pain, Glossitis, Anorexia, Xerostomia, Hamartomatous... OMIM:175500
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Pierre-Robin sequence, Hypoplastic frontal sinuses, Cerebellar hypoplasi... ORPHA:90652
Ring Chromosome 22 Syndrome
Midface retrusion, Dolichocephaly, Protruding tongue, Microcephaly, Absent septum pellucidum, Age... ORPHA:1446
Holoprosencephaly 9
Dental malocclusion, Agenesis of incisor, Cleft upper lip, Hypoplasia of the premaxilla, Abnormal... OMIM:610829
Down Syndrome
Brachycephaly, Narrow palate, Thick lower lip vermilion, Microdontia, Aganglionic megacolon, Macr... ORPHA:870
Congenital Tufting Enteropathy
Vomiting, Chronic diarrhea, Villous atrophy, Abnormal large intestinal mucosa morphology, Malabso... ORPHA:92050
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Brachycephaly, Long philtrum, Wide anterior fontanel, Humeroradial synostosis, Coronal craniosyno... OMIM:207410
Kleefstra Syndrome Due To 9Q34 Microdeletion
Brachycephaly, Cerebral cortical atrophy, Subcortical cerebral atrophy, Midface retrusion, Macrog... ORPHA:96147
Lethal Faciocardiomelic Dysplasia
Narrow mouth, Microglossia, Microretrognathia ORPHA:1972
Hallermann-Streiff Syndrome
Brachycephaly, Natal tooth, Cerebellar hypoplasia, Micrognathia, Supernumerary tooth, Frontal bos... ORPHA:2108
Achondrogenesis, Type Ib
Malar flattening, Stillbirth, Abdominal distention OMIM:600972
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Micrognathia, Short philtrum, Hip dislocation, Tra... ORPHA:958
Microtriplication 11Q24.1
Keratoconus ORPHA:289522
Cole-Carpenter Syndrome 1
Dentinogenesis imperfecta, Coronal craniosynostosis, Microdontia, Micrognathia, Midface retrusion... OMIM:112240
Microcephaly-Micromelia Syndrome
Aplasia/Hypoplasia of the corpus callosum, Humeroradial synostosis, Simplified gyral pattern, Mic... OMIM:251230
Neu-Laxova Syndrome 2
High palate, Cerebellar hypoplasia, Micrognathia, Lissencephaly, Microcephaly, Cleft palate, Prot... OMIM:616038
Tenorio Syndrome
Delayed cranial suture closure, Gastroesophageal reflux, Recurrent aphthous stomatitis, Mandibula... OMIM:616260
Holoprosencephaly 13, X-Linked
Gastroesophageal reflux, Septo-optic dysplasia, Micrognathia, Submucous cleft hard palate, Median... OMIM:301043
Myhre Syndrome
Mandibular prognathia, Gingival cleft, Abnormal lip morphology, Bifid uvula, Submucous cleft hard... ORPHA:2588
Angelman Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety, Iris hypopigmentation, Happ... ORPHA:72
Orofaciodigital Syndrome Type 3
Irregular dentition, Lobulated tongue, Bifid uvula, Cerebellar vermis hypoplasia, Hamartoma of to... ORPHA:2752
Teratoma, Pineal
Polydipsia OMIM:273120
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral fusion, Block vertebrae, Death in infancy, Abdominal distention, Protuberant abdomen OMIM:277300
Congenital Hypothyroidism
Feeding difficulties in infancy, Macroglossia, Abdominal distention, Tracheoesophageal fistula, L... ORPHA:442
Opitz Gbbb Syndrome
Ectopic anus, Feeding difficulties in infancy, Micrognathia, Abnormal corpus callosum morphology,... ORPHA:2745
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Gastroesophageal reflux, Mandibular prognathia, Poor suck, Thick lower lip vermilion, Midface ret... OMIM:301040
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Mandibular prognathia, High palate, Everted lower lip vermilion, Protruding tongue, Feeding diffi... OMIM:617804
Cowden Syndrome 1
Hemimegalencephaly, Colonic diverticula, High palate, Micrognathia, Hypoplasia of the maxilla, Na... OMIM:158350
Secondary Short Bowel Syndrome
Vomiting, Enterocolitis, Diarrhea, Villous atrophy, Small intestinal dysmotility, Malabsorption, ... ORPHA:95427
Ramos-Arroyo Syndrome
Long philtrum, Primary microcephaly, Aganglionic megacolon, Feeding difficulties in infancy, Chro... ORPHA:1051
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Decreased corneal thickness ORPHA:293967
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed cranial suture closure, High palate, Micrognathia, Narrow mouth, Death in early adulthood... OMIM:608612
Baraitser-Winter Cerebrofrontofacial Syndrome
Retrognathia, Delayed cranial suture closure, Cerebral cortical atrophy, Subcortical cerebral atr... ORPHA:2995
Meier-Gorlin Syndrome 7
Sagittal craniosynostosis, High palate, Wide anterior fontanel, Anal atresia, Duodenal stenosis, ... OMIM:617063
Hallermann-Streiff Syndrome
Brachycephaly, Selective tooth agenesis, Micrognathia, Everted lower lip vermilion, Scaphocephaly... OMIM:234100
D-Bifunctional Protein Deficiency
Retrognathia, Delayed cranial suture closure, Scaphocephaly, High palate, Long philtrum, Feeding ... OMIM:261515
Restrictive Dermopathy 2
Gastroesophageal reflux, Hypoplastic facial bones, Microretrognathia, Feeding difficulties, Recta... OMIM:619793
Microphthalmia With Limb Anomalies
Cleft upper lip, High palate, Long philtrum, Hypoplasia of the premaxilla, Death in infancy, Micr... ORPHA:1106
Fibrochondrogenesis
Camptodactyly of finger, Plagiocephaly, Wide anterior fontanel, Narrow mouth, Cleft palate ORPHA:2021
Marshall-Smith Syndrome
Irregular dentition, Microdontia, Midface retrusion, Prominent occiput, Optic nerve hypoplasia, F... OMIM:602535
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Retrognathia, Knee flexion contracture, Genu valgum, Hip contracture, Wide mouth, Deep philtrum, ... OMIM:619194
Orofaciodigital Syndrome Vi
Lobulated tongue, Cleft upper lip, High palate, Tongue nodules, Micrognathia, Porencephalic cyst,... OMIM:277170
Hypoglossia-Hypodactylia
Retrognathia, Micrognathia, Microglossia, Narrow mouth, Aglossia OMIM:103300
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Bifid tongue, Ectopic anus, Micrognathia, Midface retrusion, Elbow dislo... ORPHA:1507
Combined Oxidative Phosphorylation Deficiency 53
Septic arthritis, Death in infancy, Arthritis, Abdominal distention, Secondary microcephaly, Dysp... OMIM:619423
Cole-Carpenter Syndrome
Turricephaly, Delayed eruption of teeth, Micrognathia, Midface retrusion, Frontal bossing, Wormia... ORPHA:2050
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Gapo Syndrome
Delayed cranial suture closure, Eruption failure, Delayed closure of the anterior fontanelle, Pla... OMIM:230740
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Micrognathia, Bifid uvula, Submucous cleft hard palate, Midface retrus... OMIM:300990
Cardiofaciocutaneous Syndrome
Genu valgum, Cerebral cortical atrophy, High palate, Long philtrum, Functional abnormality of the... ORPHA:1340
Icf Syndrome
Malabsorption, Micrognathia, Macrocephaly, Macroglossia, Protruding tongue ORPHA:2268
Dubowitz Syndrome
Gastroesophageal reflux, High palate, Delayed eruption of teeth, Feeding difficulties in infancy,... OMIM:223370
Trisomy 10P
Retrognathia, Gastroesophageal reflux, High palate, Poor suck, Primary microcephaly, Simplified g... ORPHA:171929
Velocardiofacial Syndrome
Retrognathia, Pierre-Robin sequence, Velopharyngeal insufficiency, Submucous cleft hard palate, M... OMIM:192430
Cleidocranial Dysplasia 1
Hypoplastic frontal sinuses, Micrognathia, Midface retrusion, Hip dislocation, Large fontanelles,... OMIM:119600
Robinow Syndrome, Autosomal Dominant 3
Dental malocclusion, Bifid tongue, Long philtrum, Micrognathia, Macrocephaly, Midface retrusion, ... OMIM:616894
Dysostosis Multiplex, Ain-Naz Type
Thin corpus callosum, Flat acetabular roof, Hip dislocation, Abdominal distention OMIM:619345
Orofaciodigital Syndrome Type 14
Lobulated tongue, Bifid tongue, Gastrostomy tube feeding in infancy, Open operculum, Supernumerar... ORPHA:434179
Baller-Gerold Syndrome
Brachycephaly, Micrognathia, Bifid uvula, Optic nerve hypoplasia, Spina bifida occulta, Large fon... OMIM:218600
Bardet-Biedl Syndrome 17
Cognitive impairment, Polydipsia OMIM:615994
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Global brain atrophy, Ischemic stroke, Feeding difficulties in infancy, Bifid uvula, Optic nerve ... ORPHA:500150
Lateral Meningocele Syndrome
High palate, Micrognathia, Craniofacial hyperostosis, Dolichocephaly, Prominent metopic ridge, Sm... ORPHA:2789
Cystinosis
Corneal opacity, Polydipsia ORPHA:213
Acrodermatitis Enteropathica
Cerebral cortical atrophy, Poor appetite, Malabsorption, Glossitis, Anorexia, Chronic diarrhea, F... ORPHA:37
Fontaine Progeroid Syndrome
Brachycephaly, Microdontia, Micrognathia, Midface retrusion, Everted lower lip vermilion, Smooth ... OMIM:612289
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia of the cerebellum, Mandibular aplasia, Narrow mouth, Microglossia, Agenesis of... ORPHA:990
Charcot-Marie-Tooth Disease, Type 4C
Tongue fasciculations, Tongue atrophy OMIM:601596
Lead Poisoning
Vomiting, Delayed eruption of teeth, Abdominal pain, Abdominal cramps, Abdominal distention, Misc... ORPHA:330015
Multiple Acyl-Coa Dehydrogenase Deficiency
Vomiting, Wide anterior fontanel, Macrocephaly, Nausea, Pachygyria, Neonatal death OMIM:231680
Enterocolitis
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
X-Linked Agammaglobulinemia
Malabsorption, Arthritis, Sinusitis, Chronic diarrhea, Glossoptosis ORPHA:47
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Attention deficit hyperactivity disorder ORPHA:401777
Marden-Walker Syndrome
Retrognathia, Camptodactyly of finger, Cerebellar hypoplasia, Micrognathia, Pyloric stenosis, Bif... ORPHA:2461
Orofaciodigital Syndrome Xiv
Lobulated tongue, Bifid tongue, Natal tooth, Cerebellar hypoplasia, Simplified gyral pattern, Mic... OMIM:615948
Holoprosencephaly-Postaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of the premaxilla, Cerebellar hypoplasia, M... ORPHA:2166
Holoprosencephaly 2
Cerebellar hypoplasia, Proboscis, Bifid uvula, Submucous cleft hard palate, Midface retrusion, Me... OMIM:157170
Wolman Disease
Hepatic failure, Nausea and vomiting, Abdominal distention, Steatorrhea, Malnutrition, Esophageal... ORPHA:75233
Severe Oculo-Renal-Cerebellar Syndrome
Aplasia/Hypoplasia of the cerebellum, Mandibular prognathia, Wide mouth, Malar prominence, Hypopl... ORPHA:2715
Visceral Myopathy, Familial, With External Ophthalmoplegia
Abdominal pain, Abdominal distention, Malnutrition, Spontaneous esophageal perforation, Gastropar... OMIM:277320
Ritscher-Schinzel Syndrome 2
Cerebellar hypoplasia, Macrocephaly, Short philtrum, Protruding tongue, Dandy-Walker malformation OMIM:300963
Ochoa Syndrome
Polydipsia ORPHA:2704
Multicentric Osteolysis, Nodulosis, And Arthropathy
Brachycephaly, Wrist flexion contracture, Delayed closure of the anterior fontanelle, Protrusio a... OMIM:259600
Pitt-Hopkins-Like Syndrome 2
Gastroesophageal reflux, Wide mouth, Protruding tongue, Constipation, Feeding difficulties OMIM:614325
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Retrognathia, Gastroesophageal reflux, Nasogastric tube feeding in infancy, Hypoplasia of the bra... ORPHA:268261
Campomelic Dysplasia
Irregular dentition, High palate, Long philtrum, Wide anterior fontanel, Patellar hypoplasia, Mic... OMIM:114290
Immunodeficiency 49
Reduced cerebral white matter volume, Natal tooth, Micrognathia, Agenesis of corpus callosum, Sho... OMIM:617237
Frank-Ter Haar Syndrome
Brachycephaly, Dental malocclusion, Delayed cranial suture closure, High palate, Wide anterior fo... OMIM:249420
Spondyloepiphyseal Dysplasia Congenita
Genu valgum, Limited elbow movement, Increased head circumference, Micrognathia, Flat acetabular ... ORPHA:94068
Hajdu-Cheney Syndrome
Abnormal mandible morphology, Long philtrum, Periodontitis, Patellar dislocation, Micrognathia, M... ORPHA:955
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia, Diarrhea, Abdominal distention ORPHA:103910
Treacher Collins Syndrome 1
Cleft soft palate, Wide mouth, Abnormal parotid gland morphology, Micrognathia, Narrow mouth, Cle... OMIM:154500
Alg9-Cdg
Brachycephaly, Gastroesophageal reflux, Delayed cranial suture closure, Vomiting, Long philtrum, ... ORPHA:79328
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Delayed cranial suture closure, Midface retrusion, Macroglossia, Frontal bossing, Malar flattenin... OMIM:613038
Distal Monosomy 12Q
Brachycephaly, Wide anterior fontanel, Long philtrum, Esophageal atresia, Micrognathia, Pyloric s... ORPHA:96149
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1