banner
Genes Phenotypes Help, News, Blog

Gene: Fgf6 MGI:95520

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
fibroblast growth factor 6
Synonyms:
Fgf-6

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Fgf6 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 Fgf6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Rhiny
Short nose, Anteverted nares OMIM:180360
Burn-Mckeown Syndrome
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia ORPHA:1200
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Short nose, Anteverted nares ORPHA:1355
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Anteverted nares ORPHA:2015
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose OMIM:125700
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Depressed nasal bridge OMIM:155050
Ring Chromosome 8 Syndrome
Short nose, Anteverted nares ORPHA:1450
17Q21.31 Microduplication Syndrome
Short nose, Anteverted nares ORPHA:217340
Peho-Like Syndrome
Short nose, Pachygyria, Lissencephaly, Polymicrogyria OMIM:617507
Adenylosuccinate Lyase Deficiency
Short nose, Anteverted nares ORPHA:46
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose, Flexion contracture OMIM:618379
Intellectual Developmental Disorder, X-Linked 91
Short nose OMIM:300577
Mitochondrial Myopathy And Sideroblastic Anemia
Myopathy, Short nose, Generalized limb muscle atrophy ORPHA:2598
Miller-Dieker Syndrome
Anteverted nares, Lissencephaly, Short nose ORPHA:531
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Depressed... ORPHA:1529
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge OMIM:200130
Non-Distal Duplication 10Q
Short nose, Depressed nasal bridge, Convex nasal ridge ORPHA:1695
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Short nose, Anteverted nares ORPHA:1832
Pterygium Colli, Isolated
Short nose OMIM:177990
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Depressed nasal ridge,... OMIM:618774
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Depressed nasal bridge ORPHA:438178
Maxillonasal Dysplasia
Depressed nasal bridge, Depressed nasal ridge, Short columella, Abnormal nostril morphology, Shor... ORPHA:1248
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Short nose, Broad nasal tip OMIM:613670
Potocki-Shaffer Syndrome
Short nose, Wide nasal bridge, Underdeveloped nasal alae OMIM:601224
Fg Syndrome 5
Depressed nasal bridge, Anteverted nares, Short nose OMIM:300581
Acrocephalopolydactyly
Short nose, Depressed nasal ridge ORPHA:221054
14Q11.2 Microdeletion Syndrome
Short nose, Depressed nasal bridge ORPHA:261120
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nasal septum, Anosmia, Depressed nasal bridge, Short nose OMIM:302950
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Elbow cont... OMIM:617201
Melanocytic Nevus Syndrome, Congenital
Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip OMIM:137550
17P13.3 Microduplication Syndrome
Wide nose, Short nose ORPHA:217385
Acromicric Dysplasia
Bulbous nose, Anteverted nares, Short nose ORPHA:969
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Short nose, Joint contracture, Skeletal muscle atrophy OMIM:615419
Diamond-Blackfan Anemia 8
Short nose, Wide nasal bridge OMIM:612563
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose ORPHA:2370
9q subtelomeric deletion syndrome
Short nose, Anteverted nares DECIPHER:52
Baker-Gordon Syndrome
Prominent nasal tip, Short nose OMIM:618218
Clark-Baraitser Syndrome
Depressed nasal bridge, Anteverted nares, Short nose, Low hanging columella OMIM:617752
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Anteverted nares, Choanal atresia, Macroglossia, Short nose ORPHA:1914
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Short nose OMIM:611936
Tetrasomy 18P
Short nose, Abnormality of neuronal migration ORPHA:3307
Edinburgh Malformation Syndrome
Short nose, Anteverted nares, Abnormality of neuronal migration, Choanal atresia ORPHA:1895
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Short nose, Anteverted nares OMIM:618506
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Prominent nasal bridge, Bulbous nose, Flexion contracture, Interphalangeal thumb joint contractur... OMIM:613870
Glutamine Deficiency, Congenital
Depressed nasal bridge, Anteverted nares, Flexion contracture, Wide nasal bridge, Camptodactyly, ... OMIM:610015
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose, Camptodactyly of finger ORPHA:1495
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Simplified gyral pattern, Short nose OMIM:618828
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Anteverted nares, Bulbous nose, Wide nasal bridge, Camptodactyly, Short nose OMIM:613604
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short nose ORPHA:2429
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Short nose, Depressed nasal bridge OMIM:616910
Pierpont Syndrome
Wide nose, Short nose, Broad nasal tip OMIM:602342
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Anteverted nares, Facial palsy, Short nose OMIM:614744
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Short nose, Anteverted nares, Wide nasal bridge OMIM:618577
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Short nose ORPHA:1514
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose ORPHA:833
Distal Duplication 18Q
Anteverted nares, Camptodactyly of finger, Prominent nasal bridge, Choanal atresia, Short nose ORPHA:1716
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Depressed nasal bridge, Anteverted nares, Periventricular heterotopia, Bulbous nose, Short nose OMIM:614105
Perlman Syndrome
Short nose, Anteverted nares, Wide nasal bridge ORPHA:2849
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Flexion contracture, Wide nasal bridge, Limb muscle weakness, Facial dip... OMIM:218000
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Anteverted nares, Short nose OMIM:613443
Intellectual Developmental Disorder, X-Linked 30
Short nose, Anteverted nares, Prominent nasal bridge OMIM:300558
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose, Congenital diaphragmatic hernia OMIM:300887
Chung-Jansen Syndrome
Short nose, Anteverted nares OMIM:617991
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, Short nose OMIM:614069
Trigonocephaly 1
Short nose, Wide nasal bridge OMIM:190440
Rhizomelic Dysplasia, Patterson-Lowry Type
Wide nose, Depressed nasal ridge, Short nose ORPHA:2831
Chromosome 6Q11-Q14 Deletion Syndrome
Short nose, Prominent nasal bridge, Broad nasal tip OMIM:613544
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Short nose, Wide nasal bridge, Broad nasal tip OMIM:615716
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Bulbous nose, Wide nasal bridge, Short nose OMIM:620292
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short nose, Depressed nasal bridge ORPHA:2835
Congenital Disorder Of Glycosylation, Type Iu
Short nose, Congenital contracture OMIM:615042
Peho Syndrome
Short nose, Pachygyria, Polymicrogyria OMIM:260565
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Broad nasal tip, Recurrent upper respiratory tract infections, Flexion contracture, Prominent nas... ORPHA:391372
Teebi Hypertelorism Syndrome 2
Short nose, Depressed nasal bridge, Broad nasal tip OMIM:619736
Donnai-Barrow Syndrome
Short nose, Depressed nasal bridge, Congenital diaphragmatic hernia ORPHA:2143
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Short columella, Anteverted nares, Short nose ORPHA:171839
Harel-Yoon Syndrome
Short nose, Distal amyotrophy OMIM:617183
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Anteverted nares, Short nose OMIM:618961
Leukodystrophy, Hypomyelinating, 10
Skeletal muscle atrophy, Bulbous nose, Anteverted nares, Short nose OMIM:616420
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Short nose, Anteverted nares OMIM:619854
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose OMIM:618618
5Q14.3 Microdeletion Syndrome
Short nose, Anteverted nares ORPHA:228384
Dermotrichic Syndrome
Short nose, Depressed nasal bridge ORPHA:99688
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, Dimple on nasal ... ORPHA:1791
Camptodactyly Syndrome, Guadalajara Type 1
Scapular winging, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Short nose ORPHA:1327
Even-Plus Syndrome
Bifid nasal tip, Short nose, Depressed nasal ridge OMIM:616854
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Macroglossia, Arthrogryposis-like hand a... ORPHA:369891
Achondrogenesis
Short nose, Anteverted nares ORPHA:932
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Camptodactyly of finger ORPHA:2547
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Anteverted nares, Flexion contracture, Wide nasal bridge, Short nose, Broad ... OMIM:619383
X-Linked Intellectual Disability, Cantagrel Type
Short nose ORPHA:85277
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Choanal atresia, Depressed nasal bridge, Choanal stenosis, Short nose, Bilatera... OMIM:619859
Developmental And Epileptic Encephalopathy 75
Short nose, Anteverted nares, Wide nasal bridge OMIM:618437
Baraitser-Winter Syndrome 1
Anteverted nares, Wide nasal bridge, Lissencephaly, Short nose, Pachygyria OMIM:243310
Macrocephaly-Intellectual Disability-Autism Syndrome
Short nose, Depressed nasal bridge ORPHA:210548
14Q24.1Q24.3 Microdeletion Syndrome
Short nose, Prominent nasal bridge, Wide nasal bridge ORPHA:401935
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short nose ORPHA:1389
Smith-Kingsmore Syndrome
Short nose, Perisylvian polymicrogyria, Depressed nasal bridge, Diastasis recti OMIM:616638
Microcephaly-Capillary Malformation Syndrome
Wide nose, Simplified gyral pattern, Short nose, Right ventricular hypertrophy OMIM:614261
Achondrogenesis Type 1B
Short nose, Anteverted nares ORPHA:93298
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Simplified gyral pattern, Wide nasal bridge, Short nose, Pachygyria OMIM:619179
Pontocerebellar Hypoplasia, Type 10
Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Simplified gyral pattern, Limb hypert... OMIM:615803
Craniosynostosis, Herrmann-Opitz Type
Short nose, Convex nasal ridge ORPHA:2145
Achondrogenesis Type 1A
Short nose, Anteverted nares ORPHA:93299
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bulbous nose, Depressed nasal bridge, Choanal atresia, Short nose ORPHA:284169
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Anteverted nares, Short nose OMIM:614613
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short nose, Anteverted nares OMIM:619356
Meckel Syndrome, Type 8
Short nose, Depressed nasal ridge OMIM:613885
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Short nose, Facial hypotonia, Camptodactyly OMIM:615539
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Bulbous nose, Depressed nasal bridge, Short nose ORPHA:261144
Ohdo Syndrome
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose OMIM:249620
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short nose, Wide nasal bridge OMIM:614078
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Depressed nasal bridge, Anteverted nares, Short nose OMIM:242860
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Short nose, Depressed nasal bridge OMIM:614732
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Short nose, Anteverted nares ORPHA:2701
Intellectual Developmental Disorder, X-Linked 21
Short nose OMIM:300143
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Camptodactyly of finger, Short nose, Prominent nasal bridge, Underdeveloped nasal alae ORPHA:2083
Alkuraya-Kucinskas Syndrome
Anteverted nares, Depressed nasal bridge, Gray matter heterotopia, Lissencephaly, Camptodactyly, ... OMIM:617822
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Depressed nasal bridge, Anteverted nares, Prominent nose, Wide nasal bridge, Short nose OMIM:618316
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Thick nasal alae ORPHA:163961
Codas Syndrome
Depressed nasal bridge, Anteverted nares, Midline defect of the nose, Short nose ORPHA:1458
Stickler Syndrome Type 1
Short nose ORPHA:90653
Arthrogryposis, Distal, Type 2A
Hip contracture, Flexion contracture of finger, Shoulder flexion contracture, Underdeveloped nasa... OMIM:193700
Verheij Syndrome
Short nose, Anteverted nares, Wide nasal bridge, Broad nasal tip OMIM:615583
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Anteverted nares, Macroglossia, Concave nasal ridge, Short nose OMIM:613038
Fetal Trimethadione Syndrome
Short nose, Depressed nasal bridge ORPHA:1913
Odontochondrodysplasia
Short nose, Depressed nasal bridge ORPHA:166272
Autosomal Dominant Omodysplasia
Short nose, Depressed nasal bridge ORPHA:93328
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Short nose, Distal arthrogryposis, Depressed nasal bridge, Periventricular heterotopia OMIM:619833
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Al-Raqad Syndrome
Short nose OMIM:616459
Fibrochondrogenesis 2
Short nose, Anteverted nares OMIM:614524
Intellectual Disability-Strabismus Syndrome
Depressed nasal bridge, Congenital diaphragmatic hernia, Narrow nasal ridge, Prominent nose, Achi... ORPHA:363528
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Depressed nasal bridge, Anteverted nares, Short nose OMIM:613320
Pallister-Hall-Like Syndrome
Short nose, Depressed nasal bridge OMIM:241800
Craniofacial-Deafness-Hand Syndrome
Short nose, Depressed nasal bridge, Narrow naris OMIM:122880
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Short nose, Flexion contracture ORPHA:544503
Desmosterolosis
Depressed nasal bridge, Abnormal cortical gyration, Abnormality of the nose, Pachygyria, Abnormal... ORPHA:35107
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Short nose, Lower limb amyotrophy ORPHA:496790
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Decreased muscle mass, Anteverted nares, Broad nasal tip, Prominent nasolabial fold, Lissencephal... ORPHA:357074
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Short nose, Limb hypertonia OMIM:618087
Warburg Micro Syndrome 3
Flexion contracture, Short nose, Polymicrogyria, Decreased muscle mass OMIM:614222
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Long nose, Short nose, Low h... OMIM:615866
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Short nose, Anosmia ORPHA:1295
16P11.2P12.2 Microdeletion Syndrome
Anteverted nares, Camptodactyly of finger, Long nose, Bulbous nose, Absent nasal bridge, Short nose ORPHA:261211
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Short nose OMIM:617061
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Bulbous nose, Depressed nasal bridge, Short nose OMIM:618430
Acrodysostosis
Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, Wide nasal bridge, Short nose ORPHA:950
Tetrasomy 12P
Short nose, Anteverted nares ORPHA:884
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Anteverted nares, Short nose ORPHA:93329
Congenital Disorder Of Glycosylation, Type Il
Short nose, Depressed nasal bridge OMIM:608776
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Short nose, Depressed nasal bridge, Ankle flexion contracture OMIM:617802
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short nose, Flexion contracture, Anteverted nares, Wide nasal bridge OMIM:616897
Lowry-Maclean Syndrome
Choanal atresia, Congenital diaphragmatic hernia, Short nose, Short nasal bridge, Convex nasal ridge ORPHA:2409
Fetal Alcohol Syndrome
Short nose, Anteverted nares, Congenital diaphragmatic hernia ORPHA:1915
Miller-Dieker Lissencephaly Syndrome
Anteverted nares, Wide nasal bridge, Gray matter heterotopia, Joint contracture of the hand, Liss... OMIM:247200
Micro Syndrome
Anteverted nares, Wide nasal bridge, Lissencephaly, Short nose, Pachygyria ORPHA:2510
Warburg Micro Syndrome 2
Short nose, Polymicrogyria, Flexion contracture, Prominent nasal bridge OMIM:614225
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Anteverted nares, Short nose ORPHA:163649
Microform Holoprosencephaly
Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, EMG: myopathic abnorma... ORPHA:280200
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Scapular winging, Limb joint contracture, Shoulder flexion contracture, Hypoplas... OMIM:620369
Adenylosuccinase Deficiency
Skeletal muscle atrophy, Short nose, Anteverted nares OMIM:103050
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Anteverted nares, Facial palsy, Aplasia of the pectoralis major muscle, ... ORPHA:1358
Cutis Laxa, Autosomal Recessive, Type Iia
Short nose, Pachygyria, Anteverted nares, Polymicrogyria OMIM:219200
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Wide nose, Anteverted nares, Short nose ORPHA:391408
Severe X-Linked Intellectual Disability, Gustavson Type
Contractures of the large joints, Short nose, Recurrent upper respiratory tract infections ORPHA:3078
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose OMIM:616430
Donnai-Barrow Syndrome
Depressed nasal bridge, Congenital diaphragmatic hernia, Broad nasal tip, Diaphragmatic eventrati... OMIM:222448
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Depressed nasal ridge OMIM:300863
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Prominent nasal bridge, Broad nasal tip, Wide nasal bridge, Simplified gyral pattern, Macrogyria,... OMIM:300749
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Short nose, Anteverted nares OMIM:618619
Robinow Syndrome, Autosomal Recessive 2
Anteverted nares, Broad nasal tip, Wide nasal bridge, Camptodactyly, Short nose OMIM:618529
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Thenar mus... OMIM:612394
Gomez-Lopez-Hernandez Syndrome
Short nose, Anteverted nares OMIM:601853
Intellectual Developmental Disorder, X-Linked 98
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Long... OMIM:300912
Non-Distal Duplication 13Q
Short nose ORPHA:1702
Bainbridge-Ropers Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Broa... OMIM:615485
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Camptodactyly of finger, Anteverted nares, Abnormality of neuronal migrat... ORPHA:261236
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Flexion contracture, Short nose OMIM:615851
3C Syndrome
Short nose, Wide nasal bridge, Depressed nasal bridge, Abnormality of neuronal migration ORPHA:7
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Short nose, Depressed nasal bridge, Broad columella OMIM:617865
Teebi Hypertelorism Syndrome 1
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose OMIM:145420
Spinocerebellar Ataxia-Dysmorphism Syndrome
Short nose, Anteverted nares ORPHA:1185
Smith-Magenis Syndrome
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose ORPHA:819
Microlissencephaly-Micromelia Syndrome
Short nose, Lissencephaly ORPHA:50810
Pde4D Haploinsufficiency Syndrome
Prominent nasal tip, Short nose, Depressed nasal bridge, Prominent nose ORPHA:439822
Antley-Bixler Syndrome
Camptodactyly of finger, Short nose, Anteverted nares, Choanal atresia ORPHA:83
Waardenburg Syndrome Type 1
Short nose, Wide nasal bridge, Underdeveloped nasal alae ORPHA:894
Pfeiffer Syndrome
Depressed nasal bridge, Choanal stenosis, Choanal atresia, Short nose OMIM:101600
Developmental Delay With Or Without Dysmorphic Facies And Autism
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Congenital diaphragmatic hernia... OMIM:618454
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short nose, Anteverted nares, Underdeveloped nasal alae ORPHA:2031
Trisomy 12P
Short nose, Wide nasal bridge ORPHA:1699
Diaphanospondylodysostosis
Depressed nasal bridge, Polymicrogyria, Depressed nasal ridge, Short nose OMIM:608022
Marshall-Smith Syndrome
Short nose, Anteverted nares, Choanal atresia ORPHA:561
Prolidase Deficiency
Short nose, Concave nasal ridge, Depressed nasal bridge OMIM:170100
Tetrasomy 5P
Short nose, Aplasia/Hypoplasia of the abdominal wall musculature, Anteverted nares, Wide nasal br... ORPHA:3309
16P12.1P12.3 Triplication Syndrome
Bulbous nose, Short nose ORPHA:485405
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Long nose, Camptodactyly, Short nose, Narrow nose OMIM:617602
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Short nose, Wide nasal bridge OMIM:620250
Mietens Syndrome
Wide nose, Wide nasal bridge, Short nose ORPHA:2557
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose ORPHA:1129
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short nose, Depressed nasal ridge ORPHA:163966
Intellectual Developmental Disorder, Autosomal Dominant 1
Prominent nose, Bulbous nose, Depressed nasal ridge, Macroglossia, Short columella, Short nose OMIM:156200
20Q11.2 Microduplication Syndrome
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Abnormal nasal bridge morphology, Sh... ORPHA:363659
Fetal Hydantoin Syndrome
Short nose, Depressed nasal ridge ORPHA:1912
Neurodegeneration With Brain Iron Accumulation 2A
Short nose OMIM:256600
Bartsocas-Papas Syndrome
Short nose, Underdeveloped nasal alae ORPHA:1234
Femoral-Facial Syndrome
Short nose ORPHA:1988
Microphthalmia With Limb Anomalies
Short nose, Flared nostrils, Depressed nasal bridge, Camptodactyly of 2nd-5th fingers OMIM:206920
Difference Of Sex Development-Intellectual Disability Syndrome
Short nose ORPHA:2983
Desbuquois Dysplasia 1
Short nose, Concave nasal ridge, Depressed nasal bridge OMIM:251450
Ruvalcaba Syndrome
Short nose, Convex nasal ridge ORPHA:3121
8P23.1 Microdeletion Syndrome
Short nose, Prominent nasal bridge, Wide nasal bridge, Congenital diaphragmatic hernia ORPHA:251071
Chromosome 19Q13.11 Deletion Syndrome, Distal
Short nose, Anteverted nares, Wide nasal bridge, Underdeveloped nasal alae OMIM:613026
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short nose, Anteverted nares OMIM:617877
Distal Deletion 10Q
Scapular winging, Prominent nasal bridge, Prominent nose, Wide nasal bridge, Facial diplegia, Sho... ORPHA:96148
Peho Syndrome
Arthrogryposis multiplex congenita, Short nose, Flexion contracture, Anteverted nares ORPHA:2836
Down Syndrome
Macroglossia, Depressed nasal bridge, Depressed nasal ridge, Short nose ORPHA:870
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Contractures of the large joints, Short nose ORPHA:329178
Brain Malformations With Or Without Urinary Tract Defects
Short nose, Anteverted nares OMIM:613735
19P13.13 Microdeletion Syndrome
Macroglossia, Depressed nasal bridge, Anteverted nares, Short nose ORPHA:357001
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Bulbous nose, Wide nasal bridge, Short nose OMIM:618571
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Short nose, Wide nasal bridge, Broad nasal tip OMIM:614749
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Depressed nasal bridge, Anteverted nares, Short nose OMIM:615398
Renal And Mullerian Duct Hypoplasia
Short nose OMIM:266810
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Depressed nasal bridge, Anteverted nares, Short nose ORPHA:314655
Meier-Gorlin Syndrome 6
Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Depressed nasal ridge, Simpl... OMIM:616835
Aarskog-Scott Syndrome
Short nose, Anteverted nares, Wide nasal bridge OMIM:305400
Chromosome 14Q11-Q22 Deletion Syndrome
Depressed nasal bridge, Wide nasal bridge, Macroglossia, Short nose, Pachygyria OMIM:613457
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short nose ORPHA:79113
Fibrochondrogenesis 1
Depressed nasal bridge, Anteverted nares, Camptodactyly, Short nose, Joint contracture of the hand OMIM:228520
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose ORPHA:560
Mandibulofacial Dysostosis, Guion-Almeida Type
Short nose, Anteverted nares, Choanal atresia OMIM:610536
Malan Syndrome
Short nose OMIM:614753
Pfeiffer Syndrome Type 1
Short nose, Depressed nasal bridge ORPHA:93258
Jaberi-Elahi Syndrome
Short nose, Depressed nasal bridge OMIM:617988
Poikiloderma With Neutropenia
Short nose, Depressed nasal bridge, Recurrent sinusitis, Underdeveloped nasal alae OMIM:604173
Macrocephaly/Autism Syndrome
Short nose, Depressed nasal bridge OMIM:605309
Distal Deletion 9P
Short nose, Wide nasal bridge ORPHA:1642
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Short nose, Epistaxis OMIM:277450
Brachytelephalangic Chondrodysplasia Punctata
Broad nasal tip, Depressed nasal ridge, Nasal congestion, Short columella, Short nose, Thick nasa... ORPHA:79345
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short nose, Wide nasal bridge, Broad nasal tip OMIM:239300
Toluene Embryopathy
Short nose ORPHA:1920
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Short nose, Anteverted nares, Wide nasal bridge OMIM:614701
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Choanal stenosis, Short nose ORPHA:1790
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Short nose, Wide nasal bridge, Broad nasal tip OMIM:614207
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short nose, Joint contracture, Wide nasal bridge OMIM:618005
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Prominent nasal bridge, Joint contracture, Short nose, Flexion contrac... OMIM:601812
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Long nose, Short nose, Depressed nasal bridge OMIM:618590
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Short nose, Abnormal cortical gyration, Hypomimic face OMIM:617527
Johanson-Blizzard Syndrome
Abnormal nostril morphology, Short nose, Underdeveloped nasal alae ORPHA:2315
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short nose, Flexion contracture, Narrow nasal ridge OMIM:608612
Cenani-Lenz Syndrome
Short nose, Convex nasal ridge ORPHA:3258
Kleefstra Syndrome Due To 9Q34 Microdeletion
Macroglossia, Short nose, Anteverted nares ORPHA:96147
Trichothiodystrophy 4, Nonphotosensitive
Short nose, Anteverted nares OMIM:234050
Dend Syndrome
Short nose, Anteverted nares ORPHA:79134
Opsismodysplasia
Short nose, Depressed nasal bridge ORPHA:2746
Plaa-Associated Neurodevelopmental Disorder
Contractures of the large joints, Short nose, Abnormal cortical gyration, Limb hypertonia ORPHA:521426
Cadds
Short nose ORPHA:369942
Musculocontractural Ehlers-Danlos Syndrome
Decreased muscle mass, Myopathy, Prominent nasolabial fold, Arthrogryposis multiplex congenita, S... ORPHA:2953
Desmosterolosis
Hypoplastic nasal bridge, Anteverted nares, Arthrogryposis multiplex congenita, Short nose, Joint... OMIM:602398
Gaucher Disease, Perinatal Lethal
Arthrogryposis multiplex congenita, Depressed nasal bridge, Anteverted nares, Short nose OMIM:608013
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Short columella, Short nose ORPHA:364577
Rhombencephalosynapsis
Short nose, Anteverted nares ORPHA:59315
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Wide nose, Prominent nasal bridge, Short nose, Convex nasal ridge ORPHA:251028
Robinow Syndrome, Autosomal Dominant 2
Depressed nasal bridge, Anteverted nares, Short nose, Camptodactyly OMIM:616331
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Short nose, Contracture of the proximal interphalangeal joint of... ORPHA:457279
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Short nose, Convex nasal ridge ORPHA:90154
C Syndrome
Short nose, Anteverted nares, Wide nasal bridge OMIM:211750
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Wide nose, Anteverted nares, Myopathy, Short nose ORPHA:109
Oculodentodigital Dysplasia
Narrow nasal bridge, Anteverted nares, Camptodactyly of finger, Abnormality of the nose, Underdev... ORPHA:2710
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Depressed nasal bridge, Congenital diaphragmatic hernia, Anteverted nares, Short nose OMIM:614080
Otopalatodigital Syndrome, Type I
Short nose, Wide nasal bridge OMIM:311300
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Depressed nasal bridge, Anteverted nares, Embryonal rhabdomyosarcoma, Short nose OMIM:257300
Pfeiffer Syndrome Type 2
Short nose, Depressed nasal bridge, Choanal atresia ORPHA:93259
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Depressed nasal bridge, Anteverted nares, Long nose, Bulbous nose, Elbow flexion contracture, Sho... ORPHA:508533
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Short nose, Flexion contracture, Depressed nasal bridge, Underdeveloped nasal alae OMIM:616007
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Anteverted nares, Short nose OMIM:217980
Trisomy 10P
Decreased muscle mass, Depressed nasal bridge, Anteverted nares, Abnormality of the nose, Simplif... ORPHA:171929
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Wide nose, Short nose OMIM:608779
Nablus Mask-Like Facial Syndrome
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Camptodactyly, Short nose, Joint con... OMIM:608156
Oculodentodigital Dysplasia
Narrow nasal bridge, Anteverted nares, Underdeveloped nasal alae, Joint contracture of the 5th fi... OMIM:164200
Stuve-Wiedemann Syndrome 1
Anteverted nares, Elbow flexion contracture, Knee flexion contracture, Camptodactyly, Contracture... OMIM:601559
Coffin-Siris Syndrome
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Recurrent upper respiratory tract infe... ORPHA:1465
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Low insertion of columella, ... OMIM:619005
Achondrogenesis, Type Ia
Hypoplastic nasal bridge, Short nose, Anteverted nares, Depressed nasal bridge OMIM:200600
Distal Duplication 5Q
Short nose, Prominent nasal bridge ORPHA:96097
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short nose, Depressed nasal bridge OMIM:616723
Pfeiffer Syndrome Type 3
Short nose, Depressed nasal bridge, Choanal atresia ORPHA:93260
Trisomy 20P
Short nose, Anteverted nares, Camptodactyly of finger ORPHA:261318
Kleefstra Syndrome
Macroglossia, Short nose, Anteverted nares ORPHA:261494
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Macroglossia, Depressed nasal bridge, Anteverted nares, Short nose OMIM:301040
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Short nose, Depressed nasal bridge ORPHA:1812
Schneckenbecken Dysplasia
Short nose OMIM:269250
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short nose, Short columella, Wide nasal bridge OMIM:613603
Mosaic Variegated Aneuploidy Syndrome 2
Bulbous nose, Depressed nasal bridge, Short nose OMIM:614114
Cardiofaciocutaneous Syndrome 1
Bulbous nose, Depressed nasal bridge, Anteverted nares, Short nose OMIM:115150
Chromosome 16P13.3 Duplication Syndrome
Wide nose, Depressed nasal bridge, Anteverted nares, Facial hypotonia, Bulbous nose, Wide nasal b... OMIM:613458
Robinow Syndrome, Autosomal Dominant 3
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Camptodactyly, Short nose OMIM:616894
Opsismodysplasia
Depressed nasal bridge, Anteverted nares, Short nose OMIM:258480
Raine Syndrome
Depressed nasal bridge, Choanal atresia, Choanal stenosis, Arthrogryposis multiplex congenita, Sh... OMIM:259775
Trichothiodystrophy 1, Photosensitive
Short nose, Flexion contracture OMIM:601675
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Anteverted nares, Broad nasal tip, Prominent nose, Short nose, Underdevelope... ORPHA:177907
Cerebrofaciothoracic Dysplasia
Wide nose, Short nose ORPHA:1394
Acrofacial Dysostosis, Catania Type
Short nose ORPHA:1786
Temtamy Preaxial Brachydactyly Syndrome
Short nose ORPHA:363417
Marshall-Smith Syndrome
Depressed nasal bridge, Anteverted nares, Choanal atresia, Recurrent upper respiratory tract infe... OMIM:602535
Oculocerebral Hypopigmentation Syndrome, Cross Type
Depressed nasal bridge, Anteverted nares, Short nose ORPHA:2719
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Short nose OMIM:154780
Baller-Gerold Syndrome
Narrow nasal bridge, Short nose, Prominent nasal bridge ORPHA:1225
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Short nose, Depressed nasal bridge, Camptodactyly OMIM:601353
Alg9-Cdg
Torticollis, Depressed nasal bridge, Hypoplasia of the musculature, Underdeveloped nasal alae, Lo... ORPHA:79328
Holoprosencephaly 7
Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge, Depressed nasal tip, Hypoplast... OMIM:610828
3Q29 Microdeletion Syndrome
Short nose, Prominent nasal bridge ORPHA:65286
Gapo Syndrome
Depressed nasal bridge, Anteverted nares, Facial palsy, Short nose OMIM:230740
Trisomy 18
Camptodactyly of finger, Short nose, Choanal atresia, Congenital diaphragmatic hernia ORPHA:3380
Lathosterolosis
Bulbous nose, Anteverted nares, Short nose ORPHA:46059
Geleophysic Dysplasia 1
Anteverted nares, Camptodactyly of finger, Short nose, Joint contracture of the hand, Wrist flexi... OMIM:231050
Cardiofaciocutaneous Syndrome
Depressed nasal bridge, Anteverted nares, Short nose ORPHA:1340
Kaufman Oculocerebrofacial Syndrome
Depressed nasal bridge, Anteverted nares, Short nose OMIM:244450
Au-Kline Syndrome
Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal tip, Short nose OMIM:616580
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Torticollis, Multiple joint contractures, Depressed nasal bridge, Anteverted nares, Short nose ORPHA:536467
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Wide nose, Anteverted nares, Wide nasal bridge, Recurrent sinusitis, Short nose OMIM:213980
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Depressed nasal bridge, Increased size of nasopharyngeal adenoids, Short nose ORPHA:457395
Osteoglophonic Dysplasia
Depressed nasal bridge, Anteverted nares, Choanal atresia, Camptodactyly of finger, Nasal congest... OMIM:166250
Monosomy 9P
Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic hernia, Choanal atresia, Short... ORPHA:261112
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Bulbous nose, Depressed nasal bridge, Anteverted nares, Short nose OMIM:271510
Jacobsen Syndrome
Depressed nasal bridge, Flexion contracture, Anteverted nares, Short nose OMIM:147791
Phosphoribosylpyrophosphate Synthetase Superactivity
Short nose, Depressed nasal bridge, Convex nasal ridge OMIM:300661
Chops Syndrome
Short nose, Anteverted nares OMIM:616368
Cerebrooculonasal Syndrome
Short nose, Anteverted nares, Prominent nasal bridge, Proboscis OMIM:605627
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Short nose ORPHA:476126
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Depressed nasal bridge, Anteverted nares, Flexion contracture, Elbow... ORPHA:536471
Pallister-Hall Syndrome
Depressed nasal bridge, Anteverted nares, Choanal atresia, Short nose OMIM:146510
Aymé-Gripp Syndrome
Short nose, Depressed nasal bridge, Congenital diaphragmatic hernia, Camptodactyly ORPHA:1272
Faciodigitogenital Syndrome, Autosomal Recessive
Short nose, Anteverted nares, Prominent nasal bridge, Camptodactyly OMIM:227330
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Prominent nasal tip, Short nose, Progressive flexion contractures ORPHA:522077
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Skeletal muscle atrophy, Depressed nasal bridge, Broad nasal tip, Bulbous nose, Flexion contractu... OMIM:309590
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Anteverted nares, Proximal muscle weakness in lower limbs, Short nose, Flexion contracture of toe... ORPHA:280633
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Short nose, Anteverted nares, Wide nasal bridge ORPHA:2282
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Depressed nasal bridge, Choanal atresia, Bulbous nose, Flexion contracture, Elbow flexion contrac... ORPHA:95699
Frontofacionasal Dysplasia
Bifid nose, Short nose, Midline defect of the nose, Underdeveloped nasal alae OMIM:229400
Otopalatodigital Syndrome Type 2
Short nose, Depressed nasal bridge, Camptodactyly of finger ORPHA:90652
Ogden Syndrome
Torticollis, Depressed nasal bridge, Underdeveloped nasal alae, Bifid nasal tip, Flared nostrils,... OMIM:300855
Nicolaides-Baraitser Syndrome
Narrow nasal bridge, Anteverted nares, Bulbous nose, Wide nasal base, Short nose, Low hanging col... OMIM:601358
White-Kernohan Syndrome
Depressed nasal bridge, Anteverted nares, Short nose, Underdeveloped nasal alae OMIM:619426
Robinow Syndrome, Autosomal Recessive 1
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Macroglossia, Short nose OMIM:268310
Jacobsen Syndrome
Anteverted nares, Wide nasal bridge, Short nose, Pachygyria, Broad columella ORPHA:2308
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Macroglossia, Choanal ... OMIM:269150
Autosomal Recessive Robinow Syndrome
Depressed nasal bridge, Camptodactyly of finger, Anteverted nares, Wide nasal bridge, Short nose ORPHA:1507
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Anteverted nares, Choanal atresia, Congenital diaphragmatic hernia, Camptodactyly, Contracture of... OMIM:301044
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Short nose, Flexion contracture ORPHA:505248
Trisomy 8P
Multiple joint contractures, Depressed nasal bridge, Anteverted nares, Recurrent upper respirator... ORPHA:264450
Toriello-Lacassie-Droste Syndrome
Short nose, Anteverted nares ORPHA:3339
Spondylocarpotarsal Synostosis Syndrome
Scapular winging, Short nose, Anteverted nares, Broad nasal tip OMIM:272460
Blomstrand Lethal Chondrodysplasia
Depressed nasal bridge, Anteverted nares, Short nose ORPHA:50945
Autosomal Recessive Faciodigitogenital Syndrome
Short nose, Anteverted nares, Prominent nasal bridge ORPHA:1974
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Short nose, Rhinitis, Depressed nasal bridge, Underdeveloped nasal alae OMIM:305100
Menke-Hennekam Syndrome 1
Narrow nasal bridge, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Recurre... OMIM:618332
Simpson-Golabi-Behmel Syndrome
Anteverted nares, Camptodactyly of finger, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of... ORPHA:373
Atelosteogenesis, Type I
Short nose, Depressed nasal bridge OMIM:108720
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Aplasia of the nasal bone, Polymicrogyria, Short nose OMIM:618820
Autosomal Dominant Robinow Syndrome
Wide nose, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Wide nasal bridge, ... ORPHA:3107
Ayme-Gripp Syndrome
Short nose, Depressed nasal bridge, Wide nasal bridge, Camptodactyly OMIM:601088
1P21.3 Microdeletion Syndrome
Short nose, Broad nasal tip ORPHA:293948
Khan-Khan-Katsanis Syndrome
Short nose, Joint contracture OMIM:618460
Monosomy 9Q22.3
Short nose, Rhabdomyosarcoma ORPHA:77301
Witteveen-Kolk Syndrome
Wide nose, Depressed nasal bridge, Prominent nasal bridge, Anteverted nares, Underdeveloped nasal... OMIM:613406
Lathosterolosis
Short nose, Anteverted nares, Wide nasal bridge OMIM:607330
Helsmoortel-Van Der Aa Syndrome
Anteverted nares, Facial palsy, Broad nasal tip, Wide nasal bridge, Short nose OMIM:615873
Molybdenum Cofactor Deficiency, Complementation Group B
Short nose OMIM:252160
Noonan Syndrome 3
Hypoplastic nasal bridge, Anteverted nares, Short nose OMIM:609942
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Wide nasal bridge, Narrow naris, Short... OMIM:617157
Wiedemann-Steiner Syndrome
Short nose, Wide nasal bridge ORPHA:319182
Molybdenum Cofactor Deficiency, Complementation Group A
Short nose OMIM:252150
Fontaine Progeroid Syndrome
Depressed nasal bridge, Periventricular heterotopia, Hypoplasia of the abdominal wall musculature... OMIM:612289
Bartsocas-Papas Syndrome 1
Arthrogryposis multiplex congenita, Short nose, Flexion contracture, Underdeveloped nasal alae OMIM:263650
Arterial Tortuosity Syndrome
Short nose ORPHA:3342
Peroxisome Biogenesis Disorder 4B
Short nose OMIM:614863
Acromesomelic Dysplasia 1
Short nose OMIM:602875
Robinow Syndrome
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Flared nostrils, Short nose ORPHA:97360
Acrocephalopolydactylous Dysplasia
Short nose OMIM:200995
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Torticollis, Anteverted nares, Bulbous nose, Wide nasal bridge, Depressed nasal tip, Short nose OMIM:619475
Ring Chromosome 7 Syndrome
Anteverted nares, Prominent nasal bridge, Wide nasal bridge, Narrow naris, Short nose ORPHA:1449
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Torticollis, Short nose, Wide nasal bridge, Knee flexion contracture OMIM:609945
Rothmund-Thomson Syndrome, Type 2
Short nose, Depressed nasal bridge OMIM:268400
Zttk Syndrome
Short nose, Flexion contracture, Depressed nasal bridge, Wide nasal bridge OMIM:617140
C Syndrome
Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of ... ORPHA:1308
Van Esch-O'Driscoll Syndrome
Short nose, Depressed nasal bridge OMIM:301030
Orofaciodigital Syndrome Type 4
Wide nose, Camptodactyly of finger, Choanal atresia, Depressed nasal ridge, Short nose ORPHA:2753
Deeah Syndrome
Prominent nasal tip, Short nose OMIM:619004
Geleophysic Dysplasia 2
Short nose OMIM:614185
Stickler Syndrome
Skeletal muscle atrophy, Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, Macrogl... ORPHA:828
Coffin-Lowry Syndrome
Wide nose, Anteverted nares, Thick nasal septum, Short nose, Thick nasal alae, Broad columella OMIM:303600
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Diastasis recti, Short columella, Distal arthrogryposis, Arthrogryposis multiplex congenita, Shor... OMIM:601776
Acrocallosal Syndrome
Short nose, Wide nasal bridge OMIM:200990
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Depressed nasal bridge, Depressed nasal ridge, Elbow flexion contracture, Knee flexion contractur... OMIM:271665
Degcags Syndrome
Anteverted nares, Prominent nasal bridge, Prominent nose, Rhinitis, Diaphragmatic eventration, Sh... OMIM:619488
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Short nose, Broad nasal tip, Prominent nasal bridge, Underdeveloped nasal alae ORPHA:268261
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Macroglossia, Short nose, Anteverted nares ORPHA:444077
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short nose, Flexion contracture, Convex nasal ridge OMIM:619321
Schinzel-Giedion Syndrome
Broad nasal tip, Macroglossia, Choanal stenosis, Camptodactyly, Short nose ORPHA:798
Robinow Syndrome, Autosomal Dominant 1
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Macroglossia, Short nose OMIM:180700
Okamoto Syndrome
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Wide nasal bridge, Short nose ORPHA:2729
Omodysplasia 1
Short nose, Depressed nasal bridge, Wide nasal bridge OMIM:258315
Ctcf-Related Neurodevelopmental Disorder
Anteverted nares, Broad nasal tip, Short columella, Joint contracture of the 5th finger, Short nose ORPHA:363611
Specc1L-Related Hypertelorism Syndrome
Short nose, Prominent nasal bridge, Wide nasal bridge ORPHA:1519
Phocomelia, Schinzel Type
Short nose ORPHA:2879
Toriello-Carey Syndrome
Short nose ORPHA:3338
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip contracture, Depressed nasal bridge, Prominent nose, Flexion contracture, Elbow flexion contr... OMIM:619503
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Anteverted nares, Broad nasal tip, Long nose, Bulbous nose, Wide nasal bridge, Short nose OMIM:619522
Sponastrime Dysplasia
Wide nose, Aplasia of the nasal bone, Anteverted nares, Depressed nasal bridge, Hypoplasia of the... ORPHA:93357
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Depressed nasal bridge, Simplified gyral pattern, Wide nasal bridge, Short nose, Polymicrogyria ORPHA:500150
Cornelia De Lange Syndrome
Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic hernia, Choanal atresia, Short... ORPHA:199
Simpson-Golabi-Behmel Syndrome, Type 1
Depressed nasal bridge, Anteverted nares, Facial hypotonia, Congenital diaphragmatic hernia, Dias... OMIM:312870
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Prominent nasal tip, Short nose, Wide nasal bridge, Broad nasal tip OMIM:620330
Lipodystrophy, Familial Partial, Type 7
Short nose, Lower limb muscle weakness, Narrow nasal ridge OMIM:606721
Pallister-Hall Syndrome
Anteverted nares, Choanal atresia, Depressed nasal ridge, Distal arthrogryposis, Recurrent upper ... ORPHA:672
Aspartylglucosaminuria
Macroglossia, Short nose, Wide nasal bridge ORPHA:93
Peters Plus Syndrome
Depressed nasal bridge, Short columella, Anteverted nares, Short nose ORPHA:709
Femoral-Facial Syndrome
Short nose, Underdeveloped nasal alae OMIM:134780
Williams Syndrome
Macroglossia, Short nose, Myopathy, Wide nasal bridge ORPHA:904
Williams-Beuren Syndrome
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Flexion contracture, Short nose OMIM:194050
Penile Agenesis
Short nose, Depressed nasal bridge ORPHA:49
Pallister-Killian Syndrome
Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic hernia, Flexion contracture, W... OMIM:601803

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 Fgf6

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 Fgf6.

No publications found that use IMPC mice or data for Fgf6.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Fgf6em1(IMPC)H Exon Deletion Mice
Fgf6tm414069(Ifitm2_intron_L1L2_GT2_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter