Gene Summary

Name:
DEAD box helicase 10
Synonyms:
DEAD (Asp-Glu-Ala-Asp) box polypeptide 10,  4632415A01Rik

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
preweaning lethality, complete penetrance Ddx10em1(IMPC)Bay HOM   Early adult 0.00
embryonic growth retardation Ddx10em1(IMPC)Bay HET E9.5 0.00
abnormal embryo size Ddx10em1(IMPC)Bay HET E9.5 0.00

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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.

Eye Morphology

VIP of left eye

7 Images

Eye Morphology

VIP of left fundus

7 Images

Eye Morphology

VIP of right fundus

7 Images

Eye Morphology

VIP of right eye

7 Images

Human diseases caused by Ddx10 mutations

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

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

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

The table below shows human diseases predicted to be associated to Ddx10 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
17Q21.31 Microduplication Syndrome
Abnormality of the dentition, Failure to thrive, Anteverted nares, Short philtrum, Microcephaly, ... ORPHA:217340
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Long philtrum, Short nose, Wide nose OMIM:125700
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Anteverted nares, Cleft palate, Short nose ORPHA:2015
Intellectual Developmental Disorder, X-Linked 91
Macrodontia, Obesity, Short nose, High palate OMIM:300577
Adenylosuccinate Lyase Deficiency
Long philtrum, Anteverted nares, Thin upper lip vermilion, Microcephaly, Smooth philtrum, Short nose ORPHA:46
Rhiny
Thin vermilion border, Anteverted nares, Short nose OMIM:180360
Weaver-Williams Syndrome
Microcephaly, Narrow mouth, Cleft palate, Decreased body weight ORPHA:3448
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Anteverted nares, Narrow mouth, Abnormal oral cavity morphology, Short nose ORPHA:1355
Clark-Baraitser Syndrome
Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Obesity, Anteverted nares, Ex... OMIM:617752
Non-Distal Duplication 10Q
Depressed nasal bridge, Joint hypermobility, Microcephaly, Everted lower lip vermilion, Convex na... ORPHA:1695
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Failure to thrive in infancy, Obesity, Open mouth, Macrocephaly, Short nose OMIM:613670
Developmental And Epileptic Encephalopathy 73
Failure to thrive, Narrow nasal bridge, Microcephaly, Flexion contracture, Short nose OMIM:618379
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thin upper lip vermilion, Everted lower lip vermilion, Truncal obesity, Macrocephaly, Short philt... ORPHA:2429
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Anteverted nares, Gingival overgrowth, Median cleft palate, Microcephaly, ... ORPHA:1832
Burn-Mckeown Syndrome
Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Abnormal palate morphology,... ORPHA:1200
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Downturned corners of mouth, Long philtrum, Narrow mouth, Thin vermilion b... ORPHA:1906
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Primary microcephaly, Small for gestational age, Short nose OMIM:245570
Lowry-Maclean Syndrome
Delayed eruption of teeth, Microcephaly, Convex nasal ridge, Craniosynostosis, Cleft palate OMIM:600252
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Progressive mic... ORPHA:438178
14Q11.2 Microdeletion Syndrome
Depressed nasal bridge, Long philtrum, Narrow mouth, Exaggerated cupid's bow, Deep philtrum, Ever... ORPHA:261120
Ring Chromosome 8 Syndrome
Anteverted nares, Short nose, Abnormal palate morphology ORPHA:1450
Maxillonasal Dysplasia
Depressed nasal bridge, Depressed nasal ridge, Tooth agenesis, Open bite, Short columella, Microd... ORPHA:1248
Chromosome 3Q29 Duplication Syndrome
Wide nasal bridge, Bulbous nose, Obesity, Microcephaly, Macrocephaly, Short nose OMIM:611936
Trigonocephaly 1
Wide nasal bridge, High, narrow palate, Meckel diverticulum, Long philtrum, Microcephaly, Cranios... OMIM:190440
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Thin vermilion border, Reduced bone mineral density, Narrow mouth, Short nose ORPHA:2370
Pierpont Syndrome
Broad nasal tip, Failure to thrive, Widely spaced teeth, Prominent median palatal raphe, Decrease... OMIM:602342
Adducted Thumbs Syndrome
High, narrow palate, Velopharyngeal insufficiency, Microcephaly, Craniosynostosis, High palate, A... OMIM:201550
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Epiphyseal stippling, Microcephaly, Short nasal septum, Short nose OMIM:302950
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short columella, Dental malocclusion, Short nose OMIM:155050
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cleft lip, Shoulder flexion contracture, Pursed lips, Camptodactyly of finger, Elbow... OMIM:619110
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Long philtrum, Prominent nasal bridge, Joint hypermobility, Thin upper lip vermi... OMIM:613544
Achondrogenesis
Abnormal enchondral ossification, Long philtrum, Anteverted nares, Macrocephaly, Abnormality of b... ORPHA:932
9q subtelomeric deletion syndrome
Microcephaly, Anteverted nares, Protruding tongue, Short nose DECIPHER:52
Tetrasomy 12P
Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Thick upper lip vermilion,... ORPHA:884
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Delayed eruption of permanent teeth, Exaggerated cupid's bow, Microcephaly, Thi... OMIM:618506
Mitochondrial Myopathy And Sideroblastic Anemia
Microcephaly, High palate, Long philtrum, Short nose ORPHA:2598
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Long philtrum, Short nose, Abnormal palate morphology ORPHA:1389
Chung-Jansen Syndrome
Long philtrum, Obesity, Anteverted nares, Joint hypermobility, Short philtrum, Thin vermilion bor... OMIM:617991
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Anteverted nares, Increas... OMIM:618761
Melanocytic Nevus Syndrome, Congenital
Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Narrow nasal ridge, Deep philtrum, ... OMIM:137550
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Microdontia, Thin upper lip v... OMIM:619736
Acromicric Dysplasia
Long philtrum, Thick lower lip vermilion, Bulbous nose, Joint stiffness, Anteverted nares, Narrow... ORPHA:969
Weiss-Kruszka Syndrome
Exaggerated cupid's bow, Prominent nasal tip, Broad philtrum, Short nose ORPHA:502430
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Narrow mouth, Abnormal palate morphology, Microcephaly, Short nose ORPHA:1495
X-Linked Intellectual Disability, Abidi Type
Microcephaly, Prominent nasal bridge, Non-midline cleft of the upper lip, Cleft palate ORPHA:85273
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Wide nasal bridge, Broad nasal tip, Tented upper lip vermilion, Thin upper lip vermilion, Microce... OMIM:615716
Perlman Syndrome
Wide nasal bridge, High, narrow palate, Anteverted nares, Abnormal upper lip morphology, Open mou... ORPHA:2849
Absent Eyebrows And Eyelashes With Impaired Intellectual Development
Microcephaly, Convex nasal ridge, Short nose OMIM:200130
Verheij Syndrome
Wide nasal bridge, Broad nasal tip, Long philtrum, Anteverted nares, Joint hypermobility, Thin up... OMIM:615583
Intellectual Developmental Disorder, X-Linked 30
Thick upper lip vermilion, Anteverted nares, Prominent nasal bridge, Open mouth, Thin upper lip v... OMIM:300558
Marshall-Smith Syndrome
Choanal atresia, Failure to thrive, Anteverted nares, Gingival overgrowth, Open mouth, Increased ... ORPHA:561
Foxp1 Syndrome
Recurrent upper respiratory tract infections, Broad nasal tip, Failure to thrive, Downturned corn... ORPHA:391372
Edinburgh Malformation Syndrome
Choanal atresia, Failure to thrive, Downturned corners of mouth, Joint stiffness, Anteverted nare... ORPHA:1895
Encephalopathy Due To Sulfite Oxidase Deficiency
Microcephaly, Long philtrum, Short nose, Thick vermilion border ORPHA:833
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Camptodacty... ORPHA:1529
Temple Syndrome
Depressed nasal bridge, Bifid uvula, Relative macrocephaly, Obesity, Anteverted nares, Joint hype... OMIM:616222
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Thick lower lip vermilion, Obesity, Anteverted nares, Tented upper lip vermilion, Thin upper lip ... OMIM:619854
Achondrogenesis Type 1A
Abnormal enchondral ossification, Long philtrum, Anteverted nares, Macrocephaly, Recurrent fractu... ORPHA:93299
17P13.3 Microduplication Syndrome
High palate, Narrow mouth, Short nose, Wide nose ORPHA:217385
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Depressed nasal bridge, Osteopenia, Macrocephaly, Craniosynostosis, Short nose OMIM:614732
Peho-Like Syndrome
Progressive microcephaly, Open mouth, Short nose OMIM:617507
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Open mouth, Tented upper l... OMIM:614744
Baker-Gordon Syndrome
Joint hypermobility, Thin upper lip vermilion, Smooth philtrum, Prominent nasal tip, Short nose OMIM:618218
Achondrogenesis Type 1B
Abnormal enchondral ossification, Long philtrum, Anteverted nares, Macrocephaly, Short nose ORPHA:93298
Fg Syndrome 5
Depressed nasal bridge, Diastema, Long philtrum, Anteverted nares, Short nose OMIM:300581
Potocki-Shaffer Syndrome
Wide nasal bridge, Downturned corners of mouth, Underdeveloped nasal alae, Short philtrum, Short ... OMIM:601224
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Bulbous nose, Anteverted nares, Open mouth, Thin upper lip vermilion, Camptoda... OMIM:613604
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Thin upper lip vermilion, Microcephaly, Smooth philtrum, Joint contracture, Slender nose, Wide mo... OMIM:615419
Robinow Syndrome, Autosomal Dominant 2
Depressed nasal bridge, Abnormality of the dentition, Dental malocclusion, Dental crowding, Long ... OMIM:616331
Periventricular Nodular Heterotopia 7
Dental crowding, Failure to thrive, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:617201
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Wide nasal bridge, Bifid uvula, Cleft upper lip, Bulbous nose, Anteverted nares, Decreased body w... OMIM:300958
Spinocerebellar Ataxia-Dysmorphism Syndrome
Downturned corners of mouth, Anteverted nares, Thick vermilion border, Joint hypermobility, Macro... ORPHA:1185
Fetal Alcohol Syndrome
Joint stiffness, Anteverted nares, Microdontia, Thin upper lip vermilion, Microcephaly, Smooth ph... ORPHA:1915
Desmosterolosis
Joint contracture of the hand, Hypoplastic nasal bridge, Failure to thrive, Anteverted nares, Alv... OMIM:602398
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Long philtrum, Obesity, Anteverted nares, Short columella, Radioulnar syn... ORPHA:171839
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wide nasal bridge, Osteopenia, Unilateral cleft lip, Short nose, Anteverted nares, Decreased skul... OMIM:616897
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Broad columella, Failure to thrive, Downturned corners of mouth, Widely s... OMIM:617865
Congenital Disorder Of Glycosylation, Type Iu
Congenital contracture, Secondary microcephaly, Thin upper lip vermilion, High palate, Short nose OMIM:615042
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Long philtrum, Anteverted nares, Unilambdoid synostosis, Broad philtrum, Short... OMIM:618577
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Anosmia, Cleft lip, Bifid nose, Osteoporosis, Cleft palate, Hyposmia OMIM:614838
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Microglossia, Median cleft upper lip, Microcephaly, Macrocephaly, Cleft p... OMIM:241800
Macrocephaly/Autism Syndrome
Depressed nasal bridge, Long philtrum, Postnatal macrocephaly, Obesity, Large for gestational age... OMIM:605309
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Anteverted nares, Delayed pat... ORPHA:163649
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... ORPHA:166119
14Q24.1Q24.3 Microdeletion Syndrome
Wide nasal bridge, Long philtrum, Intestinal malrotation, Prominent nasal bridge, Limited elbow e... ORPHA:401935
Robinow Syndrome, Autosomal Recessive 2
Wide nasal bridge, Abnormality of the dentition, Broad nasal tip, Long philtrum, Anteverted nares... OMIM:618529
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Osteopenia, Depressed nasal bridge, Abnormality of the dentition, Do... OMIM:615398
Al-Raqad Syndrome
Narrow mouth, Joint hypermobility, Thin upper lip vermilion, Microcephaly, Short nose OMIM:616459
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Dental malocclusion, Contractures of the large joints, Failure to thrive, Thin upper ... ORPHA:329178
Stickler Syndrome Type 1
Long philtrum, Joint hypermobility, Osteoarthritis, Cleft palate, Short nose ORPHA:90653
Chondrodysplasia With Joint Dislocations, Gpapp Type
Wide nasal bridge, Coronal craniosynostosis, Limited elbow extension, Narrow mouth, Capitate-hama... OMIM:614078
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Pursed lips, Narrow mouth, Hip contracture, Flexion contracture of... OMIM:193700
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Downturned corners of mouth, Long philtrum, Anteverted nares, Narrow mouth, Decreased body weight... ORPHA:391408
Tetrasomy 18P
Long philtrum, Narrow mouth, Microcephaly, Thin vermilion border, Short nose ORPHA:3307
Leukodystrophy, Hypomyelinating, 10
Failure to thrive, Long philtrum, Secondary microcephaly, Bulbous nose, Anteverted nares, Smooth ... OMIM:616420
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Microglossia, Failure to thrive, Underdeveloped nasal alae, Bulbous nose, ... ORPHA:364577
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Secondary microcephaly, Primary microcephaly, Small for gestational age, Short nose ORPHA:289266
Ohdo Syndrome
Wide nasal bridge, Depressed nasal bridge, Long philtrum, Widely spaced teeth, Anteverted nares, ... OMIM:249620
Pontocerebellar Hypoplasia, Type 2E
Failure to thrive, Secondary microcephaly, Microcephaly, Progressive microcephaly, Osteoporosis, ... OMIM:615851
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Thin upper lip vermilion, ... OMIM:613443
Oculoauriculofrontonasal Syndrome
Bifid nasal tip, Cleft lip, Underdeveloped nasal alae, Narrow mouth, Microcephaly, Macrocephaly, ... ORPHA:398156
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Depressed nasal bridge, Pyloric stenosis, Bifid uvula, Obesity, Anteverted nares, Narrow mouth, J... ORPHA:96184
Lowry-Maclean Syndrome
High, narrow palate, Osteopenia, Choanal atresia, Talon cusp, Pyloric stenosis, Downturned corner... ORPHA:2409
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Open mouth, Narrow mouth, Microdontia, Microcephaly, Delayed eruption of perman... OMIM:619356
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Choanal atresia, Anteverted nares, Epiphyseal stippling, Macroglossia, Sh... ORPHA:1914
Intellectual Developmental Disorder, X-Linked 21
Dental crowding, Tented upper lip vermilion, Open mouth, Joint hypermobility, Short nose OMIM:300143
Meckel Syndrome, Type 8
Depressed nasal ridge, Cleft upper lip, Microcephaly, Short nose, Cleft palate OMIM:613885
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Wide nasal bridge, Narrow palate, Long philtrum, Obesity, Wide mouth, Narrow mouth, Thick vermili... OMIM:620250
Baraitser-Winter Syndrome 1
Wide nasal bridge, Failure to thrive, Long philtrum, Cleft upper lip, Anteverted nares, Thin uppe... OMIM:243310
Camptodactyly Syndrome, Guadalajara Type 1
Depressed nasal bridge, Dental malocclusion, Downturned corners of mouth, Camptodactyly of finger... ORPHA:1327
Non-Distal Duplication 13Q
Abnormality of the dentition, Long philtrum, Microcephaly, Everted lower lip vermilion, Thin verm... ORPHA:1702
Miller-Dieker Syndrome
Anteverted nares, Abnormal upper lip morphology, Short nose ORPHA:531
Distal Duplication 18Q
Choanal atresia, Carious teeth, Camptodactyly of finger, Abnormal dental morphology, Anteverted n... ORPHA:1716
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Downturned corners of mouth, Bulbous nose, Obesity, Open mouth, Tented up... OMIM:618430
Hamel Cerebro-Palato-Cardiac Syndrome
Wide nasal bridge, Bulbous nose, Narrow mouth, Microcephaly, Cleft palate ORPHA:93946
3Q29 Microdeletion Syndrome
Abnormality of the dentition, Dental crowding, Failure to thrive, Prominent nasal bridge, Joint h... ORPHA:65286
Bartsocas-Papas Syndrome
Synostosis of joints, Underdeveloped nasal alae, Narrow mouth, Median cleft upper lip, Microcepha... ORPHA:1234
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Failure to thrive, Wrist hypermobility, Narrow nasal bridge, Joint hypermobility, Microcephaly, H... ORPHA:544503
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Dental crowding, Long philtrum, Anteverted nares, Anterior open-bite malocclusion, Th... OMIM:617877
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Narrow mouth, High palate, Short nose, Pierre-Robin sequence, Wide nose, Osteopenia, Increased su... ORPHA:251028
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Wide nasal bridge, Osteopenia, Failure to thrive, Microcephaly, Joint contracture, High palate, S... OMIM:618005
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Depressed nasal bridge, Delayed eruption of teeth, Underdeveloped nasal alae, Anteverted nares, O... OMIM:615866
Frontofacionasal Dysplasia
Tessier cleft, Bifid nasal tip, Choanal atresia, Depressed nasal ridge, Depressed nasal bridge, D... ORPHA:1791
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Depressed nasal bridge, Long philtrum, Bulbous nose, Anteverted nares, Tented upper lip vermilion... OMIM:614105
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Choanal atresia, Aplasia/Hypoplasia involving the nose, Tooth agenesis, Abnormality of the sense ... ORPHA:1135
Macrocephaly-Intellectual Disability-Autism Syndrome
Depressed nasal bridge, Intestinal polyposis, Lymphoid nodular hyperplasia, Macrocephaly, Short nose ORPHA:210548
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Cleft palate, Convex nasal ridge, Short nose ORPHA:2145
Tetraploidy
Radial club hand, Microcephaly, Convex nasal ridge, Short philtrum, Biparietal narrowing, Cleft p... ORPHA:3305
Antley-Bixler Syndrome
Choanal atresia, Long philtrum, Camptodactyly of finger, Joint stiffness, Anteverted nares, Narro... ORPHA:83
Smith-Kingsmore Syndrome
Depressed nasal bridge, Long philtrum, Large for gestational age, Open mouth, Thin upper lip verm... OMIM:616638
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Wide nasal bridge, Anal stenosis, Broad nasal tip, Tented upper lip vermilion, Microcephaly, Agan... OMIM:614749
Developmental And Epileptic Encephalopathy 75
Wide nasal bridge, Secondary microcephaly, Anteverted nares, Open mouth, Short philtrum, Short nose OMIM:618437
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Thick lower lip vermilion, Anteverted nares, Abnormal palate morphology, Deep phil... ORPHA:2701
Smith-Magenis Syndrome
Wide nasal bridge, Depressed nasal bridge, Cleft upper lip, Failure to thrive in infancy, Joint s... ORPHA:819
Diamond-Blackfan Anemia 8
Wide nasal bridge, Thick upper lip vermilion, Short nose OMIM:612563
Difference Of Sex Development-Intellectual Disability Syndrome
Downturned corners of mouth, Thin vermilion border, Short philtrum, Reduced bone mineral density,... ORPHA:2983
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Depressed nasal bridge, Anteverted nares, Deep philtrum, Small f... OMIM:613320
Desmosterolosis
Depressed nasal bridge, Bifid uvula, Failure to thrive, Abnormality of the nose, Intestinal malro... ORPHA:35107
3Q29 Microduplication Syndrome
Wide nasal bridge, Abnormality of the dentition, Obesity, Camptodactyly of toe, Microcephaly, Ect... ORPHA:251038
Microphthalmia With Limb Anomalies
Flared nostrils, Depressed nasal bridge, Capitate-hamate fusion, Failure to thrive, Camptodactyly... OMIM:206920
Microcephaly-Capillary Malformation Syndrome
Failure to thrive, Progressive microcephaly, Cleft palate, Small for gestational age, Short nose,... OMIM:614261
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Obesity, Anteverted nares, Advanced ossification of carpal bones, Short nose OMIM:614613
Brain Malformations With Or Without Urinary Tract Defects
Failure to thrive, Anteverted nares, Narrow mouth, Thin upper lip vermilion, Macrocephaly, Short ... OMIM:613735
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Short nose, Macrocephaly ORPHA:2835
Microform Holoprosencephaly
Choanal atresia, Narrow nasal bridge, Anteverted nares, Tented upper lip vermilion, Midnasal sten... ORPHA:280200
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Wide nasal bridge, Arthrogryposis-like hand anomaly, Depressed nasal bridge, Downturned corners o... ORPHA:369891
Glutamine Deficiency, Congenital
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Thin vermilion border, Camptodactyly... OMIM:610015
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteoporosis, Osteopenia, Anosmia, Cleft palate OMIM:614880
Acrocephalopolydactyly
Depressed nasal ridge, Short nose ORPHA:221054
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Wide nasal bridge, Depressed nasal bridge, Long philtrum, Intestinal malrotation, Prominent nose,... OMIM:618316
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Dental crowding, Long philtrum, Narrow mouth, Joint hypermobility, Camptodactyly, High palate, Sh... OMIM:615539
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Depressed nasal ridge, Macrocephaly, Short nose, Decreased skull ossification OMIM:300863
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Wide nasal bridge, Velopharyngeal insufficiency, Long philtrum, Intestinal malrotation, Anteverte... OMIM:614701
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Bulbous nose, Prominent nasal bridge, Smooth philtrum, Primary microcepha... OMIM:618828
Even-Plus Syndrome
Bifid nasal tip, Depressed nasal ridge, Hypodontia, High palate, Anal atresia, Short nose OMIM:616854
Microcephaly 26, Primary, Autosomal Dominant
Wide nasal bridge, Failure to thrive, Long philtrum, Prominent nasal bridge, Gingival overgrowth,... OMIM:619179
Cutis Laxa, Autosomal Recessive, Type Iia
Carious teeth, Failure to thrive, Long philtrum, Anteverted nares, Narrow mouth, Joint hypermobil... OMIM:219200
Oculodentodigital Dysplasia
Broad alveolar ridges, Carious teeth, Underdeveloped nasal alae, Selective tooth agenesis, Cleft ... OMIM:164200
C Syndrome
Wide nasal bridge, Fused sternal ossification centers, Failure to thrive, Anteverted nares, Thick... OMIM:211750
Fetal Trimethadione Syndrome
Depressed nasal bridge, High palate, Microcephaly, Short nose ORPHA:1913
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, High pala... OMIM:614069
5Q14.3 Microdeletion Syndrome
Short philtrum, Anteverted nares, Open mouth, Short nose ORPHA:228384
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Microcephaly, Short nose OMIM:616910
Cebalid Syndrome
Depressed nasal bridge, Depressed nasal ridge, Anteverted nares, High palate, Short nose OMIM:618774
Desbuquois Dysplasia 1
Depressed nasal bridge, Long philtrum, Obesity, Narrow mouth, Joint hypermobility, Smooth philtru... OMIM:251450
Intellectual Disability-Strabismus Syndrome
Depressed nasal bridge, Joint contracture of the hand, Abnormality of the dentition, Limitation o... ORPHA:363528
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Bulbous nose, Tented upper lip vermilion, Microcephaly, Smooth philtrum, ... ORPHA:261144
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Failure to thrive, Tented upper lip vermilion, Exaggerated cupid's bow, M... OMIM:619833
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Wide nasal bridge, Broad columella, Long philtrum, Narrow nasal bridge, Anteverted nares, Tented ... OMIM:619383
X-Linked Intellectual Disability, Cantagrel Type
Short philtrum, Tented upper lip vermilion, Short nose ORPHA:85277
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Anteverted nares, Coarse metaphyseal trabecularization, Short nose OMIM:618961
Peho Syndrome
Limitation of joint mobility, Anteverted nares, Abnormal upper lip morphology, Open mouth, Gingiv... ORPHA:2836
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Camptodactyly of finger, Submucous cleft hard palate, Microcephaly, Cleft palate ORPHA:2521
Glass Syndrome
Conical tooth, Broad nasal tip, Dental crowding, Long philtrum, Bulbous nose, Narrow nose, Anteve... OMIM:612313
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Dental crowding, Failure to thrive, Downturned corners of mouth, Intestinal malrot... OMIM:617602
Johanson-Blizzard Syndrome
Abnormality of the dentition, Failure to thrive, Underdeveloped nasal alae, Delayed eruption of t... ORPHA:2315
Faciocardiorenal Syndrome
Wide nasal bridge, Failure to thrive, Underdeveloped nasal alae, Narrow mouth, Smooth philtrum, H... ORPHA:1973
Teebi Hypertelorism Syndrome 1
Wide nasal bridge, Coronal craniosynostosis, Depressed nasal bridge, Natal tooth, Dental crowding... OMIM:145420
Fetal Hydantoin Syndrome
Depressed nasal ridge, Microcephaly, Everted lower lip vermilion, Short nose, Wide mouth, Cleft p... ORPHA:1912
Combined Oxidative Phosphorylation Deficiency 25
Wide nasal bridge, Depressed nasal bridge, Failure to thrive, Long philtrum, Anteverted nares, Sm... OMIM:616430
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Broad nasal tip, Downturned corners of mouth, Cleft upper lip, Anteriorly plac... OMIM:239300
Orofaciodigital Syndrome Ix
Bifid nasal tip, Abnormality of the dentition, Broad nasal tip, Median cleft upper lip, Microceph... OMIM:258865
Pfeiffer Syndrome
Coronal craniosynostosis, Choanal atresia, Depressed nasal bridge, Dental crowding, Humeroradial ... OMIM:101600
Hypomandibular Faciocranial Dysostosis
Bifid uvula, Aplasia/Hypoplasia of the tongue, Anteverted nares, Narrow mouth, Choanal stenosis, ... ORPHA:1790
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Aganglionic megaco... OMIM:613870
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i... ORPHA:199306
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Wide nasal bridge, Depressed nasal bridge, Dental crowding, Long philtrum, Bulbous nose, Oligodon... OMIM:617061
Chromosome 19Q13.11 Deletion Syndrome, Distal
Wide nasal bridge, Carious teeth, Failure to thrive, Underdeveloped nasal alae, Anteverted nares,... OMIM:613026
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Depressed nasal bridge, Failure to thrive, Anteverted nares, Protruding tongue, Macroglossia, Sho... OMIM:242860
Pterygium Colli, Isolated
Short nose OMIM:177990
Aarskog-Scott Syndrome
Wide nasal bridge, Failure to thrive, Cleft upper lip, Anteverted nares, Joint hypermobility, Hyp... OMIM:305400
Raine Syndrome
Choanal atresia, Depressed nasal bridge, Natal tooth, Wide mouth, Narrow mouth, Protruding tongue... OMIM:259775
Acrocallosal Syndrome
Everted upper lip vermilion, Narrow mouth, Open mouth, Protruding tongue, Alveolar process hypopl... OMIM:200990
Linear Skin Defects With Multiple Congenital Anomalies 2
Microcephaly, Long philtrum, Short nose OMIM:300887
Codas Syndrome
Depressed nasal bridge, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal de... ORPHA:1458
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Wide nasal bridge, Bulbous nose, Thin upper lip vermilion, Short nose OMIM:620292
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Failure to thrive, Long philtrum, Villous atrophy, Microcephaly, Wide mou... OMIM:608776
Cerebrooculonasal Syndrome
Narrow palate, Downturned corners of mouth, Proboscis, Long philtrum, Anteverted nares, Prominent... OMIM:605627
Trisomy 8Q
Wide nasal bridge, Camptodactyly of finger, Joint stiffness, Abnormal oral frenulum morphology, O... ORPHA:1752
Odontochondrodysplasia
Depressed nasal bridge, Dentinogenesis imperfecta, Delayed eruption of teeth, Joint hypermobility... ORPHA:166272
Bainbridge-Ropers Syndrome
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Dental crowding, Failure to thrive, U... OMIM:615485
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Osteopenia, Choanal atresia, Anosmia, Cleft upper lip, Tooth agenesis, Cleft palate, Hyposmia OMIM:147950
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Depressed nasal bridge, Ankle flexion contracture, Natal tooth, Volvulus, Microcephaly, Progressi... OMIM:617802
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Cleft upper lip, Camptodactyly of finger, Anteverted nares, Wide mouth, E... ORPHA:261236
Carey-Fineman-Ziter Syndrome
Long philtrum, Aplasia/Hypoplasia of the tongue, Anteverted nares, Microcephaly, Thin vermilion b... ORPHA:1358
16P12.1P12.3 Triplication Syndrome
High, narrow palate, Failure to thrive, Long philtrum, Bulbous nose, Thin vermilion border, Wide ... ORPHA:485405
Toluene Embryopathy
Microcephaly, Smooth philtrum, Thin vermilion border, Biparietal narrowing, Short nose ORPHA:1920
Gomez-Lopez-Hernandez Syndrome
Anteverted nares, Smooth philtrum, Thin vermilion border, Craniosynostosis, High palate, Short nose OMIM:601853
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Long philtrum, Anteverted nares, Craniosynostosis, Short nose ORPHA:93329
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis, Limitation of joint mobility, Short nose, Camptodactyly of finger ORPHA:2547
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Depressed nasal bridge, Osteopenia, Downturned corners of mouth, Joint hypermobility, Thin upper ... OMIM:618590
Prolidase Deficiency
Depressed nasal bridge, Failure to thrive, Concave nasal ridge, High palate, Short nose OMIM:170100
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Abnormality of canine, Abnormality of the dentition, Narrow mouth, Oligodontia... ORPHA:363417
Femoral-Facial Syndrome
Long philtrum, Thin upper lip vermilion, Radioulnar synostosis, Orofacial cleft, Short nose, Clef... ORPHA:1988
Meier-Gorlin Syndrome 6
Depressed nasal ridge, Depressed nasal bridge, Failure to thrive, Underdeveloped nasal alae, Ante... OMIM:616835
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Wide nasal bridge, Broad nasal tip, Long philtrum, Prominent nasal bridge, Decreased body weight,... OMIM:300749
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Depressed nasal bridge, Osteopenia, Limited elbow extension, Tented upper lip vermilion, Microcep... OMIM:616723
Schisis Association
Unilateral cleft lip, Microcephaly, Tracheoesophageal fistula, Anal atresia, Small for gestationa... ORPHA:63862
Premature Aging Syndrome, Penttinen Type
Failure to thrive, Delayed eruption of teeth, Narrow nose, Macrocephaly, Prominent nasal bridge, ... OMIM:601812
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Short nose OMIM:618618
8P23.1 Microdeletion Syndrome
Wide nasal bridge, Obesity, Prominent nasal bridge, Microcephaly, Weight loss, Thin vermilion bor... ORPHA:251071
Ruvalcaba Syndrome
Synostosis of carpal bones, Dental crowding, Narrow mouth, Microcephaly, Convex nasal ridge, Thin... ORPHA:3121
Severe X-Linked Intellectual Disability, Gustavson Type
Recurrent upper respiratory tract infections, Contractures of the large joints, Microcephaly, Sma... ORPHA:3078
Peho Syndrome
Tented upper lip vermilion, Progressive microcephaly, Open mouth, Short nose OMIM:260565
Trisomy 12P
Wide nasal bridge, Downturned corners of mouth, Everted lower lip vermilion, Anal atresia, Cleft ... ORPHA:1699
Pontocerebellar Hypoplasia, Type 10
Wide nasal bridge, Underdeveloped nasal alae, Widely spaced teeth, Bulbous nose, Thin upper lip v... OMIM:615803
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Narrow mouth, High palate, Acroosteolysis of distal phalanges (feet), Narrow nas... OMIM:608612
Mandibulofacial Dysostosis, Guion-Almeida Type
Choanal atresia, Anteverted nares, Microcephaly, Progressive microcephaly, Deep philtrum, Esophag... OMIM:610536
Jaberi-Elahi Syndrome
Depressed nasal bridge, Failure to thrive, Joint stiffness, Joint hypermobility, Triangular mouth... OMIM:617988
Donnai-Barrow Syndrome
Intestinal malrotation, Depressed nasal bridge, Short nose, Macrocephaly ORPHA:2143
Intellectual Developmental Disorder, X-Linked 98
Depressed nasal bridge, Failure to thrive, Underdeveloped nasal alae, Downturned corners of mouth... OMIM:300912
Diaphanospondylodysostosis
Depressed nasal ridge, Depressed nasal bridge, Tracheomalacia, Absent in utero rib ossification, ... OMIM:608022
Malan Syndrome
Gingival overgrowth, Narrow mouth, Advanced eruption of teeth, Everted lower lip vermilion, Macro... OMIM:614753
Holoprosencephaly 7
Wide nasal bridge, Hypoplastic nasal septum, Unilateral cleft lip, Depressed nasal tip, Midline d... OMIM:610828
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Wide nasal bridge, Anal stenosis, Broad nasal tip, Tented upper lip vermilion, Microcephaly, Agan... OMIM:614207
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Broad nasal tip, Carious teeth, Failure to thrive, Long philtrum, Anteverted nares, Generalized j... ORPHA:357074
Distal Duplication 5Q
Carious teeth, Long philtrum, Prominent nasal bridge, Narrow mouth, Microcephaly, Thin vermilion ... ORPHA:96097
Nablus Mask-Like Facial Syndrome
Wide nasal bridge, Depressed nasal bridge, Joint contracture of the hand, Abnormality of the dent... OMIM:608156
Schneckenbecken Dysplasia
Short nose, Macrocephaly, Advanced ossification of carpal bones, Advanced tarsal ossification, Cl... OMIM:269250
Tetrasomy 5P
Wide nasal bridge, Failure to thrive, Long philtrum, Anteverted nares, Macrocephaly, High palate,... ORPHA:3309
Marshall Syndrome
Wide nasal bridge, Depressed nasal bridge, Abnormality of the dentition, Long philtrum, Thick low... ORPHA:560
Microlissencephaly-Micromelia Syndrome
Secondary microcephaly, Long philtrum, Failure to thrive, Short nose ORPHA:50810
Otopalatodigital Syndrome Type 2
Depressed nasal bridge, Synostosis of carpal bones, Failure to thrive, Camptodactyly of finger, C... ORPHA:90652
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Failure to thrive, Anteverted nares, Concave nasal ridge, Macroglossia, S... OMIM:613038
Cardiofaciocutaneous Syndrome 1
Osteopenia, Depressed nasal bridge, Abnormality of the dentition, Dental malocclusion, Failure to... OMIM:115150
Pde4D Haploinsufficiency Syndrome
Depressed nasal bridge, Long philtrum, Abnormal dental enamel morphology, Obesity, Prominent nose... ORPHA:439822
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, Flexion contracture, Short nose, High palate OMIM:218000
Miller-Dieker Lissencephaly Syndrome
Wide nasal bridge, Joint contracture of the hand, Failure to thrive, Delayed eruption of teeth, T... OMIM:247200
Waardenburg Syndrome Type 1
Wide nasal bridge, Underdeveloped nasal alae, Cleft upper lip, Tented upper lip vermilion, Agangl... ORPHA:894
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Joint stiffness, Thin upper lip vermilion, Abnormal nostril morphology, Short nose ORPHA:1295
20Q11.2 Microduplication Syndrome
Wide nasal bridge, Depressed nasal bridge, Tented philtrum, Anteverted nares, Gingival overgrowth... ORPHA:363659
Distal Deletion 10Q
Wide nasal bridge, Failure to thrive, Prominent nose, Prominent nasal bridge, Thin upper lip verm... ORPHA:96148
Mandibulofacial Dysostosis-Microcephaly Syndrome
Secondary microcephaly, Cleft palate, Short nose, Accessory oral frenulum ORPHA:79113
Opsismodysplasia
Depressed nasal bridge, Short nose, Joint stiffness, Macrocephaly, Abnormally ossified vertebrae ORPHA:2746
Phosphoribosylaminoimidazole Carboxylase Deficiency
Depressed nasal bridge, Choanal atresia, Bilateral choanal atresia, Anteverted nares, Choanal ste... OMIM:619859
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Wide nasal bridge, Cleft lip, Downturned corners of mouth, Long philtrum, Bulbous nose, Deep phil... OMIM:618571
1P21.3 Microdeletion Syndrome
Broad nasal tip, Obesity, Joint hypermobility, Macrocephaly, Wide mouth, Short nose ORPHA:293948
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Absent cupid's bow, Bulbous nose, Celiac disease, Short ... ORPHA:284169
Acrofacial Dysostosis, Catania Type
Tessier cleft, Abnormality of the dentition, Carious teeth, Tooth agenesis, Abnormal palate morph... ORPHA:1786
Adenylosuccinase Deficiency
Long philtrum, Anteverted nares, Thin upper lip vermilion, Microcephaly, Smooth philtrum, Wide mo... OMIM:103050
Robinow Syndrome, Autosomal Dominant 3
Wide nasal bridge, Depressed nasal bridge, Cleft lip, Dental malocclusion, Downturned corners of ... OMIM:616894
Lathosterolosis
Failure to thrive, Downturned corners of mouth, Long philtrum, Bulbous nose, Anteverted nares, Gi... ORPHA:46059
Intellectual Developmental Disorder, Autosomal Dominant 1
Depressed nasal ridge, Downturned corners of mouth, Widely spaced teeth, Secondary microcephaly, ... OMIM:156200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Depressed nasal bridge, Anal stenosis, Long philtrum, Large for gestational age, Anteverted nares... OMIM:614080
Oculodentodigital Dysplasia
Broad alveolar ridges, Carious teeth, Abnormality of the nose, Cranial hyperostosis, Camptodactyl... ORPHA:2710
Dermotrichic Syndrome
Aganglionic megacolon, Depressed nasal bridge, Short nose ORPHA:99688
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Underdeveloped nasal alae, Camptodactyly of finger, Prominent nasal bridge, Microcephaly, Short nose ORPHA:2083
Pfeiffer Syndrome Type 1
Depressed nasal bridge, High palate, Bicoronal synostosis, Short nose ORPHA:93258
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Underdeveloped nasal alae, Anteverted nares, Glossoptosis, Biparietal narrowing, Short nose ORPHA:2031
3C Syndrome
Wide nasal bridge, Depressed nasal bridge, High, narrow palate, Intestinal malrotation, Orofacial... ORPHA:7
Kleefstra Syndrome Due To 9Q34 Microdeletion
Failure to thrive, Downturned corners of mouth, Obesity, Anteverted nares, Protruding tongue, Mic... ORPHA:96147
Pfeiffer Syndrome Type 2
Depressed nasal bridge, Choanal atresia, Limitation of joint mobility, Tracheomalacia, Intestinal... ORPHA:93259
16P11.2P12.2 Microdeletion Syndrome
Camptodactyly of finger, Bulbous nose, Anteverted nares, Open mouth, Absent nasal bridge, Orofaci... ORPHA:261211
Craniolenticulosutural Dysplasia
Wide nasal bridge, Osteopenia, Bifid uvula, Carious teeth, Delayed eruption of teeth, Long philtr... OMIM:607812
Acrodysostosis
Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Delayed eruption of teeth, Open... ORPHA:950
Bcard Syndrome
Osteopenia, Abnormality of the dentition, Contracture of the proximal interphalangeal joint of th... OMIM:612394
Orofaciodigital Syndrome Type 4
Perineal fistula, Rectal atresia, Anal atresia, Rectovaginal fistula, Short nose, Wide nose, Abno... ORPHA:2753
Distal Deletion 9P
Wide nasal bridge, High, narrow palate, Abnormality of the dentition, Short nose, Cleft palate ORPHA:1642
Cerebrofaciothoracic Dysplasia
Cleft upper lip, Short nose, Macrocephaly, Broad philtrum, Wide mouth, Cleft palate, Wide nose ORPHA:1394
Mietens Syndrome
Wide nasal bridge, Joint stiffness, Microcephaly, Elbow ankylosis, Short nose, Wide nose ORPHA:2557
19P13.13 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Narrow mouth, Thin upper lip vermilion, Smooth philtrum... ORPHA:357001
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Abnormality of the dentition, Dental crowding, Failure to thrive, Eruption failure, Long philtrum... ORPHA:476126
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Duodenal atresia, Bulbous nose, Narrow mouth, Microcephaly, Craniosynosto... OMIM:614114
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Au-Kline Syndrome
Bifid nasal tip, Bifid uvula, Dental malocclusion, Failure to thrive, Underdeveloped nasal alae, ... OMIM:616580
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Cessation of head growth, Contractures of the large joints, Failure to thrive, Long philtrum, Ten... OMIM:617527
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Tracheomalacia, Downturned corners of mouth, Anteriorly placed anus, Ante... OMIM:217980
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Short nose ORPHA:1514
Prader-Willi Syndrome Due To Translocation
Bifid uvula, Broad nasal tip, Carious teeth, Downturned corners of mouth, Obesity, Anteverted nar... ORPHA:177907
Rhombencephalosynapsis
Anteverted nares, Narrow mouth, Aganglionic megacolon, Tracheoesophageal fistula, Esophageal atre... ORPHA:59315
Holoprosencephaly 3
Depressed nasal bridge, Bifid uvula, Cleft lip, Abnormality of the nose, Proboscis, Short columel... OMIM:142945
Micro Syndrome
Wide nasal bridge, Joint stiffness, Anteverted nares, Short philtrum, Microcephaly, High palate, ... ORPHA:2510
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Short nose, Wide nose ORPHA:2831
Lathosterolosis
Long philtrum, Thick upper lip vermilion, Anteverted nares, Alveolar ridge overgrowth, Microcepha... OMIM:607330
Trisomy 20P
Abnormality of the dentition, Downturned corners of mouth, Camptodactyly of finger, Anteverted na... ORPHA:261318
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Long philtrum, Short nose ORPHA:93328
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Cleft upper lip, Large for gestational age, Anteverted nares, Wide nose, Gingi... OMIM:213980
Warburg Micro Syndrome 3
Narrow palate, Downturned corners of mouth, Secondary microcephaly, Microcephaly, Flexion contrac... OMIM:614222
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Macrodontia of permanent maxillary central incisor, Broad nasal tip, Abnormality of t... ORPHA:363611
Gaucher Disease, Perinatal Lethal
Depressed nasal bridge, Everted upper lip vermilion, Anteverted nares, Open mouth, Narrow mouth, ... OMIM:608013
Robinow Syndrome
Flared nostrils, Tooth malposition, Ankyloglossia, Marked delay in eruption of permanent teeth, S... ORPHA:97360
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Depressed nasal bridge, Abnormality of the dentition, Relative macrocephaly, Bulbous ... OMIM:271510
Pfeiffer Syndrome Type 3
Depressed nasal bridge, Choanal atresia, Limitation of joint mobility, Tracheomalacia, Intestinal... ORPHA:93260
Plaa-Associated Neurodevelopmental Disorder
Contractures of the large joints, Failure to thrive, Long philtrum, Tented upper lip vermilion, M... ORPHA:521426
Cenani-Lenz Syndrome
Synostosis of joints, High, narrow palate, Synostosis of carpal bones, Abnormal dental enamel mor... ORPHA:3258
Otopalatodigital Syndrome, Type I
Wide nasal bridge, Synostosis of carpal bones, Selective tooth agenesis, Limited knee flexion, Li... OMIM:311300
Kleefstra Syndrome
Limitation of joint mobility, Tracheomalacia, Downturned corners of mouth, Delayed eruption of te... ORPHA:261494
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, Anteverted nares, Macrocephaly, Camptodactyly, High palate, Arthrogryposi... OMIM:617822
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Developmental Delay With Or Without Dysmorphic Facies And Autism
Wide nasal bridge, Depressed nasal bridge, Cleft lip, Bulbous nose, Narrow nose, Anteverted nares... OMIM:618454
Mosaic Variegated Aneuploidy Syndrome 1
Depressed nasal bridge, Duodenal atresia, Long philtrum, Anteverted nares, Triangular mouth, Micr... OMIM:257300
Chops Syndrome
High, narrow palate, Tracheomalacia, Downturned corners of mouth, Long philtrum, Obesity, Antever... OMIM:616368
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Joint hemorrhage, Epiphyseal stippling, Short nose OMIM:277450
Marshall Syndrome
Depressed nasal bridge, Bifid uvula, Macrodontia of permanent maxillary central incisor, Long phi... OMIM:154780
Baller-Gerold Syndrome
Anteriorly placed anus, Failure to thrive in infancy, Narrow nasal bridge, Prominent nasal bridge... ORPHA:1225
Autosomal Recessive Robinow Syndrome
Synostosis of carpal bones, Open bite, Ankyloglossia, Short nose, Downturned corners of mouth, Hy... ORPHA:1507
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Long philtrum, Anteverted nares, Intestinal polyposis, Joint... ORPHA:109
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Depressed nasal bridge, Dental crowding, Underdeveloped nasal alae, Anteverted nares, Decreased b... OMIM:619005
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic nasal bridge, Depressed nasal bridge, Anteverted nares, ... OMIM:200600
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microglossia, Exaggerated median tongue furrow, Failure to thrive, Underdeveloped nasal alae, Lon... OMIM:608670
Down Syndrome
Depressed nasal bridge, Depressed nasal ridge, Narrow palate, Abnormality of the dentition, Downt... ORPHA:870
Osteoglophonic Dysplasia
Osteopenia, Choanal atresia, Depressed nasal bridge, Failure to thrive, Eruption failure, Camptod... OMIM:166250
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormality of the dentition, Narrow mouth, Acroosteolysis of distal phalanges (feet), Convex nas... ORPHA:90154
Kaufman Oculocerebrofacial Syndrome
Depressed nasal bridge, Carious teeth, Failure to thrive, Diastema, Intestinal malrotation, Antev... OMIM:244450
Congenital Disorder Of Glycosylation, Type Iie
Failure to thrive, Narrow mouth, Protruding tongue, Smooth philtrum, Progressive microcephaly, Pr... OMIM:608779
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Thick nasal alae, Meckel diverticulum, Short nose ORPHA:163961
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Abnormal dental enamel morphology, Macrocephaly, Microdontia, Short nose,... ORPHA:1812
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Osteopenia, Depressed nasal bridge, Underdeveloped nasal alae, L... OMIM:616007
Nicolaides-Baraitser Syndrome
Wide nasal base, High, narrow palate, Failure to thrive, Long philtrum, Thick lower lip vermilion... OMIM:601358
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Long philtrum, Submucous cleft hard palate, Contracture of the proximal interphalangeal joint of ... ORPHA:457279
Zttk Syndrome
Wide nasal bridge, Depressed nasal bridge, Bifid uvula, Abnormality of the dentition, Failure to ... OMIM:617140
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Depressed nasal bridge, Broad nasal tip, Long philtrum, Thick lower lip vermilion, Bulbous nose, ... OMIM:309590
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Depressed nasal bridge, Anteverted nares, Tented upper lip vermilion, Deep philtrum, High palate,... ORPHA:314655
Brachytelephalangic Chondrodysplasia Punctata
Depressed nasal ridge, Broad nasal tip, Nasal congestion, Epiphyseal stippling of toe phalanges, ... ORPHA:79345
Musculocontractural Ehlers-Danlos Syndrome
Malrotation of small bowel, Cleft lip, Long philtrum, Narrow mouth, Generalized joint hypermobili... ORPHA:2953
Monosomy 9Q22.3
Delayed eruption of teeth, Long philtrum, Large for gestational age, Narrow mouth, Joint hypermob... ORPHA:77301
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Depressed nasal ridge, Short philtrum, Wide mouth, Short nose ORPHA:163966
Coffin-Lowry Syndrome
Narrow palate, Thick nasal septum, Broad columella, Dental malocclusion, Thick lower lip vermilio... OMIM:303600
Chromosome 14Q11-Q22 Deletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Failure to thrive, Long philtrum, Narrow mouth, Microc... OMIM:613457
C Syndrome
Depressed nasal bridge, Limitation of joint mobility, Long philtrum, Failure to thrive in infancy... ORPHA:1308
Oculocerebral Hypopigmentation Syndrome, Cross Type
Depressed nasal bridge, Limitation of joint mobility, Anteverted nares, Narrow mouth, Abnormal pa... ORPHA:2719
Harel-Yoon Syndrome
Short nose OMIM:617183
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Poikiloderma With Neutropenia
Depressed nasal bridge, Carious teeth, Underdeveloped nasal alae, Long philtrum, Joint stiffness,... OMIM:604173
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Gout, Convex nasal ridge, High palate, Wide mouth, Small for gestational ... OMIM:300661
Trisomy 10P
Depressed nasal bridge, Abnormality of the nose, Abnormal lip morphology, Anteverted nares, Thin ... ORPHA:171929
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Depressed nasal bridge, Abnormality of the dentition, Limited elbow extension, Tented... ORPHA:457395
Marshall-Smith Syndrome
Irregular dentition, Decreased body weight, High palate, Short nose, Choanal atresia, Choanal ste... OMIM:602535
Congenital Myopathy 22B, Severe Fetal
Wide nasal bridge, Shoulder flexion contracture, Dental crowding, Elbow flexion contracture, Tent... OMIM:620369
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Microcephaly, Short nose OMIM:618087
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Triangular mouth, Microcephaly, Flexion contracture, Small for gestationa... OMIM:601675
Autosomal Dominant Robinow Syndrome
Wide nasal bridge, Depressed nasal bridge, High, narrow palate, Downturned corners of mouth, Long... ORPHA:3107
Weiss-Kruszka Syndrome
Exaggerated cupid's bow, Anteverted nares, Broad philtrum, Short nose OMIM:618619
Stickler Syndrome
Depressed nasal ridge, Depressed nasal bridge, Bifid uvula, Long philtrum, Cleft upper lip, Open ... ORPHA:828
Robinow Syndrome, Autosomal Recessive 1
Short nose, Downturned corners of mouth, Absent uvula, Thin upper lip vermilion, Orofacial cleft,... OMIM:268310
Fibrochondrogenesis 1
Depressed nasal bridge, Joint contracture of the hand, Long philtrum, Anteverted nares, Narrow mo... OMIM:228520
Trisomy 18
Choanal atresia, Narrow palate, Camptodactyly of finger, Narrow mouth, Microcephaly, Cachexia, Es... ORPHA:3380
Rothmund-Thomson Syndrome, Type 2
Depressed nasal bridge, Delayed eruption of teeth, Anteriorly placed anus, Agenesis of permanent ... OMIM:268400
Fibrochondrogenesis 2
Anteverted nares, Short nose OMIM:614524
Stuve-Wiedemann Syndrome 1
Wide nasal base, Carious teeth, Smooth tongue, Pursed lips, Pathologic fracture, Elbow flexion co... OMIM:601559
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Wide nasal bridge, Short columella, Microcephaly, Aganglionic megacolon, Macrocephaly, Short phil... OMIM:613603
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Short hard palate, High palate, Short nose, Downturned corners of mouth, ... OMIM:180700
Autosomal Recessive Faciodigitogenital Syndrome
Long philtrum, Open bite, Anteverted nares, Prominent nasal bridge, Joint hypermobility, Deep phi... ORPHA:1974
Warburg Micro Syndrome 2
Secondary microcephaly, Prominent nasal bridge, Microcephaly, Flexion contracture, Short nose OMIM:614225
Faciodigitogenital Syndrome, Autosomal Recessive
Narrow palate, Dental malocclusion, Anteverted nares, Prominent nasal bridge, Deep philtrum, Hype... OMIM:227330
Geleophysic Dysplasia 1
Wide nasal bridge, Osteopenia, Joint contracture of the hand, Long philtrum, Camptodactyly of fin... OMIM:231050
Cardiofaciocutaneous Syndrome
Depressed nasal bridge, Long philtrum, Failure to thrive in infancy, Anteverted nares, Submucous ... ORPHA:1340
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Microcephaly, Smooth phil... OMIM:619321
Dend Syndrome
Long philtrum, Anteverted nares, Downturned corners of mouth, Short nose ORPHA:79134
Trichothiodystrophy 4, Nonphotosensitive
Microcephaly, Anteverted nares, Hypoplasia of teeth, Short nose OMIM:234050
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Depressed nasal bridge, Diastema, Thick lower lip vermilion, Anteverted nares, Protruding tongue,... OMIM:301040
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Depressed nasal bridge, Carious teeth, Dentinogenesis imperfecta, Tracheomalacia, Lon... ORPHA:536467
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Wide nasal bridge, Anteverted nares, Cleft soft palate, Submucous cleft soft palate, Microcephaly... ORPHA:2282
Jacobsen Syndrome
Depressed nasal bridge, Failure to thrive, Anteverted nares, Microcephaly, Macrocephaly, Flexion ... OMIM:147791
Wiedemann-Steiner Syndrome
Wide nasal bridge, Failure to thrive, Long philtrum, Thin upper lip vermilion, Microcephaly, High... ORPHA:319182
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Depressed nasal bridge, Long philtrum, Elbow flexion contracture, Bulbous nose, Anteverted nares,... ORPHA:508533
Coffin-Siris Syndrome
Wide nasal base, Depressed nasal bridge, Recurrent upper respiratory tract infections, Broad nasa... ORPHA:1465
Donnai-Barrow Syndrome
Depressed nasal bridge, Broad nasal tip, Intestinal malrotation, Macrocephaly, Short nose OMIM:222448
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Depressed nasal bridge, Natal tooth, Long philtrum, Anteverted nares, Protr... ORPHA:50945
Helsmoortel-Van Der Aa Syndrome
Carious teeth, Ankyloglossia, Everted lower lip vermilion, Short nose, High, narrow palate, Broad... OMIM:615873
White-Kernohan Syndrome
Depressed nasal bridge, Underdeveloped nasal alae, Anteriorly placed anus, Obesity, Anteverted na... OMIM:619426
Holoprosencephaly 9
Depressed nasal bridge, Choanal atresia, Broad nasal tip, Dental malocclusion, Downturned corners... OMIM:610829
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Dental crowding, Failure to thrive, L... OMIM:617157
Toriello-Lacassie-Droste Syndrome
Failure to thrive, Anteverted nares, Aganglionic megacolon, Macrocephaly, Short nose ORPHA:3339
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Depressed nasal bridge, Long philtrum, Narrow mouth, Thin upper lip vermilion, Camptodactyly, Cle... OMIM:601353
Monosomy 9P
Depressed nasal bridge, Choanal atresia, Abnormality of the dentition, Limitation of joint mobili... ORPHA:261112
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Choanal atresia, Dental crowding, Downturned corners of mouth, Widely spaced teeth, Narrow nose, ... OMIM:301044
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Depressed nasal bridge, Abnormality of the dentition, Long philtrum, Elbow flexion co... ORPHA:536471
Chromosome 16P13.3 Duplication Syndrome
Wide nasal bridge, Depressed nasal bridge, Bifid uvula, Long philtrum, Cervical C5/C6 vertebrae f... OMIM:613458
Menke-Hennekam Syndrome 1
Depressed nasal ridge, Recurrent upper respiratory tract infections, Depressed nasal bridge, Ever... OMIM:618332
Spondylocarpotarsal Synostosis Syndrome
Block vertebrae, Broad nasal tip, Failure of eruption of permanent teeth, Carpal synostosis, Ante... OMIM:272460
Alg9-Cdg
Depressed nasal bridge, Bifid uvula, Underdeveloped nasal alae, Long philtrum, Villous atrophy, T... ORPHA:79328
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Anal stenosis, Rectovestibular fistula, Prominent palatine ridges, Anteverted nares, Macrocephaly... ORPHA:280633
Schinzel-Giedion Midface Retraction Syndrome
Depressed nasal bridge, Macroglossia, Increased density of long bones, Failure to thrive, Scleros... OMIM:269150
Ring Chromosome 7 Syndrome
Wide nasal bridge, Bifid uvula, Narrow naris, Anteverted nares, Prominent nasal bridge, Narrow mo... ORPHA:1449
Frontofacionasal Dysplasia
Bifid uvula, Underdeveloped nasal alae, Cleft upper lip, Midline defect of the nose, Orofacial cl... OMIM:229400
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Short nose ORPHA:496790
Aymé-Gripp Syndrome
Depressed nasal bridge, Limitation of joint mobility, Long philtrum, Narrow mouth, Oligodontia, T... ORPHA:1272
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Abnormal oral mucosa morphology, Depressed nasal bridge, Conical tooth, Everted upper lip vermili... OMIM:305100
Arterial Tortuosity Syndrome
Esophagitis, Median cleft palate, Joint hypermobility, Hiatus hernia, Macrocephaly, Craniosynosto... ORPHA:3342
Sponastrime Dysplasia
Delayed epiphyseal ossification, Depressed nasal bridge, Small for gestational age, Anteverted na... ORPHA:93357
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Short nose, Narrow naris OMIM:122880
Ayme-Gripp Syndrome
Wide nasal bridge, Depressed nasal bridge, Abnormality of the dentition, Long philtrum, Narrow mo... OMIM:601088
Geleophysic Dysplasia 2
Limitation of joint mobility, Long philtrum, Joint stiffness, Thin upper lip vermilion, Smooth ph... OMIM:614185
Opsismodysplasia
Depressed nasal bridge, Long philtrum, Anteverted nares, Macrocephaly, Short nose OMIM:258480
Khan-Khan-Katsanis Syndrome
Failure to thrive, Tented upper lip vermilion, Triangular mouth, Microcephaly, Joint contracture,... OMIM:618460
Gapo Syndrome
High, narrow palate, Depressed nasal bridge, Eruption failure, Long philtrum, Thick lower lip ver... OMIM:230740
Molybdenum Cofactor Deficiency, Type B
Long philtrum, Macrocephaly, Microcephaly, Thick vermilion border, Short nose OMIM:252160
Okamoto Syndrome
Wide nasal bridge, Depressed nasal bridge, Anal stenosis, Exaggerated median tongue furrow, Downt... ORPHA:2729
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Limitation of joint mobility, Narrow mouth, Humeroradial synostosis, Radioulnar synostosis, Elbow... ORPHA:95699
Molybdenum Cofactor Deficiency, Type A
Long philtrum, Macrocephaly, Microcephaly, Thick vermilion border, Short nose OMIM:252150
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose ORPHA:1129
Deeah Syndrome
Narrow palate, Long philtrum, Narrow mouth, Decreased body weight, Short philtrum, Prominent nasa... OMIM:619004
Fontaine Progeroid Syndrome
High, narrow palate, Coronal craniosynostosis, Depressed nasal bridge, Failure to thrive, Long ph... OMIM:612289
Trisomy 8P
Depressed nasal bridge, Recurrent upper respiratory tract infections, Bifid uvula, Malrotation of... ORPHA:264450
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ankyloglossia, Decreased body weight, High palate, Short nose, High, narrow palate, Osteomyelitis... OMIM:619475
Witteveen-Kolk Syndrome
Flared nostrils, Narrow mouth, Open mouth, High palate, Short nose, Wide nose, High, narrow palat... OMIM:613406
Noonan Syndrome 3
Hypoplastic nasal bridge, Anteverted nares, Sagittal craniosynostosis, Left unilambdoid synostosi... OMIM:609942
Degcags Syndrome
Protruding tongue, High palate, Short nose, Osteopenia, Tracheomalacia, Small for gestational age... OMIM:619488
Van Esch-O'Driscoll Syndrome
Bifid uvula, Depressed nasal bridge, Downturned corners of mouth, Microcephaly, Tracheoesophageal... OMIM:301030
Omodysplasia 1
Wide nasal bridge, Depressed nasal bridge, Limited knee flexion/extension, Limited elbow flexion,... OMIM:258315
Toriello-Carey Syndrome
Anteriorly placed anus, Abnormal palate morphology, Aganglionic megacolon, Microcephaly, Short no... ORPHA:3338
Schinzel-Giedion Syndrome
Broad nasal tip, Delayed eruption of teeth, Anteriorly placed anus, Failure to thrive in infancy,... ORPHA:798
Ogden Syndrome
Wide nasal bridge, Flared nostrils, Bifid nasal tip, Depressed nasal bridge, Abnormality of the d... OMIM:300855
Jacobsen Syndrome
Wide nasal bridge, Broad columella, Long philtrum, Intestinal malrotation, Anteverted nares, Abno... ORPHA:2308
Pallister-Hall Syndrome
Depressed nasal bridge, Choanal atresia, Microglossia, Natal tooth, Cleft upper lip, Anteriorly p... OMIM:146510
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Tracheomalacia, Downturned corners of mouth, Long philtrum, Obesity, Anteverted nares, Cervical C... ORPHA:444077
Neurodegeneration With Brain Iron Accumulation 2A
Short nose OMIM:256600
Cornelia De Lange Syndrome
Choanal atresia, Depressed nasal bridge, Failure to thrive, Downturned corners of mouth, Widely s... ORPHA:199
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Long philtrum, Intestinal malrotation, Short columella, Narrow mouth, Joint hypermobility, Genera... OMIM:601776
Acrofacial Dysostosis, Cincinnati Type
Choanal atresia, Depressed nasal bridge, Cleft lip, Failure to thrive, Bilateral choanal atresia,... OMIM:616462
Phocomelia, Schinzel Type
High, narrow palate, Humeroradial synostosis, Tracheoesophageal fistula, Short nose, Anal atresia... ORPHA:2879
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Wide nasal bridge, Depressed nasal bridge, Bifid uvula, Downturned corners of mouth, Failure to t... ORPHA:500150
Acrocephalopolydactylous Dysplasia
Craniosynostosis, Hypoplastic colon, Hypoplasia of the small intestine, Short nose OMIM:200995
Renal And Mullerian Duct Hypoplasia
Short nose OMIM:266810
Simpson-Golabi-Behmel Syndrome
Wide nasal bridge, High, narrow palate, Macroglossia, Cleft upper lip, Camptodactyly of finger, A... ORPHA:373
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad nasal tip, Underdeveloped nasal alae, Widely spaced teeth, Failure to thrive in infancy, Pr... ORPHA:268261
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Joint hypermobility, Thin upper lip vermilion, Smooth philtrum, Prominent nasal tip, Progressive ... ORPHA:522077
Aspartylglucosaminuria
Wide nasal bridge, Abnormality of the dentition, Carious teeth, Joint stiffness, Gingival overgro... ORPHA:93
Bartsocas-Papas Syndrome 1
Tessier cleft, Anal stenosis, Underdeveloped nasal alae, Cleft upper lip, Oral synechia, Anal atr... OMIM:263650
Cadds
Short nose ORPHA:369942
Atelosteogenesis, Type I
Depressed nasal bridge, Cleft palate, Short nose, Fused cervical vertebrae OMIM:108720
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Wide nasal bridge, Knee flexion contracture, Microcephaly, Thin vermilion border, Craniosynostosi... OMIM:609945
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Depressed nasal ridge, Depressed nasal bridge, Long philtrum, Enlarged naris, Elbow flexion contr... OMIM:271665
Peroxisome Biogenesis Disorder 4B
Short nose, Macrocephaly OMIM:614863
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Wide nasal bridge, Bifid uvula, Broad nasal tip, Long philtrum, Joint hypermobility, Thin upper l... OMIM:620330
Specc1L-Related Hypertelorism Syndrome
Wide nasal bridge, Long philtrum, Prominent nasal bridge, Advanced eruption of teeth, Orofacial c... ORPHA:1519
Genitourinary And/Or Brain Malformation Syndrome
Ileal atresia, Long philtrum, Secondary microcephaly, Joint stiffness, Aplasia of the nasal bone,... OMIM:618820
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cleft soft palate, Narrow mouth, Hip contracture, High palate, Esophageal varix, Short nose, Hype... OMIM:619503
Cornelia De Lange Syndrome 6
Macrodontia of permanent maxillary central incisor, Cleft lip, Long philtrum, Anteverted nares, M... OMIM:620568
Williams Syndrome
Synostosis of joints, Carious teeth, Open bite, Radioulnar synostosis, Everted lower lip vermilio... ORPHA:904
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Joint stiffness, Thick vermilion border, Macroglossia, Flexion contracture, Short nose ORPHA:505248
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Wide nasal bridge, Broad nasal tip, Carious teeth, Downturned corners of mouth, Bulbous nose, Ant... OMIM:619522
Acromesomelic Dysplasia 1
Limited elbow extension, Short nose, Joint hypermobility OMIM:602875
Williams-Beuren Syndrome
Osteopenia, Depressed nasal bridge, Broad nasal tip, Colonic diverticula, Dental malocclusion, Lo... OMIM:194050
Peters Plus Syndrome
Depressed nasal bridge, Long philtrum, Intestinal fistula, Cleft upper lip, Widely spaced teeth, ... ORPHA:709
Simpson-Golabi-Behmel Syndrome, Type 1
Wide nasal bridge, Depressed nasal bridge, Macroglossia, Submucous cleft lip, Exaggerated median ... OMIM:312870
Pallister-Hall Syndrome
Choanal atresia, Depressed nasal ridge, Cleft lip, Bifid uvula, Natal tooth, Microglossia, Anteve... ORPHA:672
Femoral-Facial Syndrome
Underdeveloped nasal alae, Camptodactyly of finger, Long philtrum, Humeroradial synostosis, Limit... OMIM:134780
Pallister-Killian Syndrome
Secondary microcephaly, Everted lower lip vermilion, Anal atresia, Short nose, Obesity, Thin uppe... OMIM:601803
Lipodystrophy, Familial Partial, Type 7
Failure to thrive, Narrow mouth, Narrow nasal ridge, Small for gestational age, Short nose OMIM:606721
Penile Agenesis
Depressed nasal bridge, Tracheoesophageal fistula, Rectal fistula, Anal atresia, Short nose ORPHA:49

Histopathology

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

There is no histopathology data for Ddx10

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ddx10.

No publications found that use IMPC mice or data for Ddx10.

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MGI Allele Allele Type Produced
Ddx10em1(IMPC)Bay Exon Deletion Mice

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