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Gene: Ift57 MGI:1921166

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
intraflagellar transport 57
Synonyms:
4833420A15Rik,  MHS4R2,  Esrrbl1,  HIPPI

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 Ift57 mutations

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

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

The table below shows human diseases associated to Ift57 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Short stature, Preaxial polyd... OMIM:617927

The table below shows human diseases predicted to be associated to Ift57 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small hypothenar eminence, Spina bifida, Hypertelorism, Dermatoglyphic ridges abnormal, Mitral va... OMIM:211960
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
6P22 Microdeletion Syndrome
Finger syndactyly, Hydrocephalus, Patent ductus arteriosus, Hypotelorism, Deeply set eye, Clinoda... ORPHA:251046
Craniofacial Conodysplasia
Spinal cord compression, Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand ORPHA:85168
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hypertelorism, Hydrocephalus, Lobar holoprosencephaly,... OMIM:609637
Weyers Acrofacial Dysostosis
Postaxial hand polydactyly, Hypotelorism, Postaxial foot polydactyly, Short palm, Clinodactyly of... OMIM:193530
Acalvaria
Spina bifida, Hypertelorism, Hydrocephalus, Postaxial hand polydactyly, Holoprosencephaly ORPHA:945
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Brachydactyly, Severe short stature, Abnormal thumb morphology, Abnormal m... ORPHA:2511
Craniotelencephalic Dysplasia
Frontal encephalocele, Hypotelorism OMIM:218670
Richieri-Costa/Guion-Almeida Syndrome
Mandibular prognathia, Short stature, Hypotelorism, Deeply set eye, Palmoplantar cutis laxa, Mala... OMIM:268850
Chromosome 6Q11-Q14 Deletion Syndrome
Short stature, Single transverse palmar crease, Hypertelorism, Bilateral cryptorchidism, Microgna... OMIM:613544
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Mandibular prognathia, Ventric... ORPHA:1908
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Abnormal heart morphology, Upper limb phocomelia, Abnormal cardiac septum morphology,... ORPHA:294975
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida, Hypertelorism ORPHA:1931
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Frontonasal Dysplasia 1
Hypertelorism, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic frontal sinuses... OMIM:136760
Ossification Of The Posterior Longitudinal Ligament Of Spine
Spinal cord compression, Myelopathy OMIM:602475
Mosaic Trisomy 9
Micromelia, Polyhydramnios, Micrognathia, Hydrops fetalis, Hypotelorism, Finger clinodactyly, End... ORPHA:99776
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Bowing of the long bones, Coarse metaphyseal trabecularization, Patent ductus arteriosus, Hypotel... ORPHA:1952
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Short stature, Single transverse palmar crease, Hypertelorism, Micrognathia, Hypotelorism, Growth... OMIM:613604
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Hypotelorism, B... ORPHA:439822
Alkuraya-Kucinskas Syndrome
Overlapping toe, Edema, Hypertelorism, Pericardial effusion, Micrognathia, Hydrocephalus, Cutaneo... OMIM:617822
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Short stature, Metatarsus valgus, Ap... ORPHA:3082
Trisomy 1Q
Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Ventricular septal de... ORPHA:261344
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Hypotelorism, Ab... ORPHA:1515
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Tonne-Kalscheuer Syndrome
Short stature, Hypertelorism, Micrognathia, Cryptorchidism, Abnormal heart morphology, Hypotelori... OMIM:300978
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Holoprosencephaly 11
Proptosis, Holoprosencephaly, Hypotelorism OMIM:614226
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius, Hypoplast... ORPHA:2476
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, H... OMIM:264480
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... ORPHA:957
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Mandibular prognathia, Tapered finger, Hypertelorism, Small hand, Hypotelorism, Deeply set eye, H... OMIM:618672
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Ventricular septal defect, Polyhydramnios, Hypotelorism, Atria... ORPHA:3469
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta ORPHA:64754
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormal distal phalanx morphology of finger, Short stature, Abnormality of the hand, Micrognathi... ORPHA:1387
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly, Oligohydramnios OMIM:615397
Endocrine-Cerebroosteodysplasia
Single transverse palmar crease, Micromelia, Polyhydramnios, Micrognathia, Preaxial polydactyly, ... OMIM:612651
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Camptodactyly of finger, Diastomatomyelia, Meningocele, Abnormal tricuspid valve mo... ORPHA:1759
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Short stature, Single transverse palmar crease, Hypertelorism, 2-3 toe syndactyly, Co... OMIM:614701
Joubert Syndrome 18
Occipital encephalocele, Trident pelvis, Bowing of the long bones, Ventricular septal defect, Pos... OMIM:614815
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Deeply set eye, Tetralogy of Fallot, Hypotelorism ORPHA:276422
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Distal Deletion 10Q
Atrial septal defect, Scapular winging, Sandal gap, Single transverse palmar crease, Short statur... ORPHA:96148
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Short stature, Ventricular septal defect, Fifth finger distal phalanx clinodactyly, Postnatal gro... ORPHA:3369
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Acrootoocular Syndrome
Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased pal... ORPHA:2980
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Overlapping toe, Ventricular septal defect, Patent ductus arteriosus, Hypot... OMIM:618974
Short Stature-Micrognathia Syndrome
Rhizomelia, Ventricular septal defect, Short stature, Bowing of the legs, Coxa valga, Cryptorchid... OMIM:617164
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of the premaxilla, Polyhydramnios, Micrognathia, Cryptorchidism, Hydroc... ORPHA:2166
Trigonocephaly With Short Stature And Developmental Delay
Clinodactyly of the 5th finger, Ventricular septal defect, Short stature, Hypotelorism OMIM:314320
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Short stature, Micrognat... OMIM:602471
Holoprosencephaly-Craniosynostosis Syndrome
Short stature, Coxa valga, Hypotelorism, Holoprosencephaly, Clinodactyly of the 5th finger, Short... ORPHA:2163
Joubert Syndrome 16
Encephalocele, Polydactyly, Hypertelorism OMIM:614465
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... OMIM:602418
1Q41Q42 Microdeletion Syndrome
Short stature, Cryptorchidism, Hypotelorism, Growth delay, Deeply set eye, Talipes equinovarus, H... ORPHA:250999
Bardet-Biedl Syndrome 7
Postaxial polydactyly, Hypertelorism, 2-3 toe syndactyly, Deeply set eye, Polydactyly, Malar flat... OMIM:615984
Intellectual Developmental Disorder, Autosomal Dominant 7
Hallux valgus, Short stature, Micrognathia, Hypotelorism, Birth length less than 3rd percentile, ... OMIM:614104
Galloway-Mowat Syndrome
Short stature, Camptodactyly of finger, Hypertelorism, Aqueductal stenosis, Micrognathia, Hypotel... ORPHA:2065
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Lim... ORPHA:93320
Cutis Laxa, Autosomal Recessive, Type Iiia
Congenital hip dislocation, Short stature, Hypertelorism, Cryptorchidism, Hip dislocation, Hypote... OMIM:219150
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Clino... OMIM:201000
Trisomy 13
Ventricular septal defect, Cryptorchidism, Postaxial hand polydactyly, Patent ductus arteriosus, ... ORPHA:3378
Oculodentodigital Dysplasia
Mandibular prognathia, Micrognathia, Hypotelorism, Deeply set eye, Clinodactyly of the 5th finger... ORPHA:2710
Global Developmental Delay With Or Without Impaired Intellectual Development
Ventricular septal defect, Short stature, Patent ductus arteriosus, Hypotelorism, Atrial septal d... OMIM:618330
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Shor... ORPHA:1120
Cutis Laxa, Autosomal Recessive, Type Iib
Bowing of the long bones, Congenital hip dislocation, Hypertelorism, Hydrocephalus, Hypotelorism,... OMIM:612940
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Sandal gap, Short stature, Hypertelorism, Cryptorchidism, 3-4 finger c... OMIM:612530
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di... OMIM:603546
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Micrognathia, Hydrocephalus, Hypotelorism, Growth delay, Retrognathia, Brachydactyly OMIM:620156
Frontoocular Syndrome
Micrognathia, Hypotelorism, Proptosis, Pulmonic stenosis, Atrial septal defect OMIM:605321
Czeizel-Losonci Syndrome
Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Dextrocardia, Micrognathia, Myel... ORPHA:2437
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... OMIM:603194
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Short stature, Hypotelorism, Atrial septal de... OMIM:612946
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Ventricular septal defect, Hydrocephalus, Meningocele, A... OMIM:611134
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Down-sloping shoulders, Proportionate short stature, Deviation of the 5th toe, Micrognathia, Slen... ORPHA:391408
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Clinodactyly, Hypotelorism OMIM:619091
Lymphedema, Primary, With Myelodysplasia
Lymphedema, Long fingers, Hypotelorism, Tapered finger OMIM:614038
Seckel Syndrome 7
Severe short stature, Abnormal carpal morphology, Madelung deformity, Hypotelorism, Hip dysplasia... OMIM:614851
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Mandibular prognathia, Scapular winging, Toe syndactyly, Brachydactyly, Camptodact... ORPHA:1327
Carpenter Syndrome
Finger syndactyly, Syndactyly, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Patent... ORPHA:65759
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Meningocele, Abnormality o... ORPHA:3265
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Edema, Polyhydramnios, Hyper... OMIM:616038
Mohr Syndrome
Syndactyly, Short stature, Hypertelorism, Micrognathia, Preaxial hand polydactyly, Hydrocephalus,... OMIM:252100
Jackson-Weiss Syndrome
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypertelorism, Hypoplasia of the max... ORPHA:1540
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Congenital Vertical Talus
Myelomeningocele, Rocker bottom foot, Equinus calcaneus ORPHA:178382
Intellectual Disability And Myopathy Syndrome
Congenital hip dislocation, Dental malocclusion, Hypotelorism, Limited elbow extension, Incisor m... OMIM:619719
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Short stature, Down-sloping shoulders, Micrognathia, Cryptorchidism, Hypotelorism, Growth delay, ... OMIM:616817
2Q23.1 Microduplication Syndrome
Broad hallux, Sandal gap, Abnormality of the hand, Hypotelorism, Clinodactyly of the 5th finger ORPHA:313947
Intellectual Developmental Disorder, Autosomal Recessive 5
Short stature, Hypertelorism, Postnatal growth retardation, 4-5 toe syndactyly, Hypotelorism OMIM:611091
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Spinal dysraphism ORPHA:1114
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Pericardial effusion, Polydactyly, Talipes equinovarus OMIM:613885
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... OMIM:251255
Trisomy 18P
Short stature, Micrognathia, Bilateral cryptorchidism, Abnormal finger morphology, Hypotelorism, ... ORPHA:1715
Intellectual Developmental Disorder, Autosomal Recessive 13
Hypertelorism, Slender finger, Hypotelorism OMIM:613192
Braddock Syndrome
Short stature, Micrognathia, Preaxial hand polydactyly, Hypotelorism, Intrauterine growth retarda... ORPHA:52047
Non-Distal Duplication 13Q
Arachnodactyly, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Hypotelorism ORPHA:1702
Chromosome 15Q11.2 Deletion Syndrome
Swan neck-like deformities of the fingers, Arachnodactyly, Single transverse palmar crease, Short... OMIM:615656
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Severe short stature, Arachnodactyly, Long palm, Camptodactyly of finger, Tape... ORPHA:2215
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Ventricular septal defect, Hypertelorism, Hydrocephalus, Polydactyly OMIM:602501
Hydrolethalus Syndrome 2
Micrognathia, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Postaxial foot polydactyly,... OMIM:614120
Vitamin K Antagonist Embryofetopathy
Hypertelorism, Myelomeningocele, Hydrocephalus, Epiphyseal stippling, Proptosis, Intrauterine gro... ORPHA:1914
Triploidy
Finger syndactyly, Polyhydramnios, Hypertelorism, Micrognathia, Cryptorchidism, Hydrocephalus, Me... ORPHA:3376
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypertelorism, Hypoplasia of the maxilla, Hydrocephalus, Proptosis, Abnormal metacarpal morpholog... ORPHA:93262
Giacheti Syndrome
Hypotelorism OMIM:612917
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Short stature, Aplasia/Hypoplasia of t... ORPHA:1225
Meckel Syndrome, Type 1
Occipital encephalocele, Micrognathia, Hypotelorism, Syndactyly, Hypertelorism, Cryptorchidism, P... OMIM:249000
Developmental And Epileptic Encephalopathy 87
Hypertelorism, Single transverse palmar crease, Hypotelorism OMIM:618916
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... ORPHA:93323
Santos Syndrome
Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu... OMIM:613005
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Mandibular prognathia, Rocker bottom foot, Single transverse palmar crease, Hypotelorism, Birth l... OMIM:618622
Fountain Syndrome
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Craniofacial hyperost... ORPHA:3219
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Arachnodactyly, Short stature, Hypertelorism, Micrognathia, Hypotelorism, M... OMIM:300986
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Hypertelorism, Cry... ORPHA:2162
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Hypoplastic right heart, Postaxial polydactyly, Ventricular septal defect, Hyper... OMIM:618142
Mosaic Variegated Aneuploidy Syndrome 2
Atrial septal defect, Rhizomelia, Single transverse palmar crease, Ventricular septal defect, Mic... OMIM:614114
Pelvis-Shoulder Dysplasia
Syndactyly, Short stature, Camptodactyly of finger, Spina bifida, Aplasia/Hypoplasia of the fibul... ORPHA:2839
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Postaxial foot polydactyly, P... OMIM:607361
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Short stature, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Cryptorchidism... ORPHA:85279
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Short stature, Hypertelorism, Coxa valga, Hypoplasia of the maxilla, Hydrocephalus, Hip dislocati... OMIM:109120
Ritscher-Schinzel Syndrome 4
Ulnar deviation of the hand, Short stature, Tapered finger, Hypertelorism, Cryptorchidism, Narrow... OMIM:619435
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad hallux phalanx, Hypertelorism, Preaxial hand polydactyly,... ORPHA:2211
Chromosome 13Q14 Deletion Syndrome
Overlapping toe, Single transverse palmar crease, Ventricular septal defect, Micrognathia, Crypto... OMIM:613884
Aarskog-Scott Syndrome
Delayed eruption of teeth, Finger syndactyly, Short stature, Single transverse palmar crease, Cam... ORPHA:915
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Hypertelor... ORPHA:2378
Pfeiffer Syndrome
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... OMIM:101600
Non-Syndromic Metopic Craniosynostosis
Hypotelorism ORPHA:3366
Biemond Syndrome Type 2
Hydrocephalus, Preaxial polydactyly, Short stature, Delayed puberty ORPHA:141333
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Hypertelorism, Micrognathia, Cryptorchidism, Hypotelorism, Pulmonic st... OMIM:619123
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Abnormal ethmoid bone morphology, Nasofro... ORPHA:101030
Congenital Disorder Of Glycosylation, Type Iu
Micrognathia, Hypotelorism OMIM:615042
Pancreatic Agenesis-Holoprosencephaly Syndrome
Aplasia/Hypoplasia of the phalanges of the thumb, Hypotelorism, Hypoplasia of the zygomatic bone,... ORPHA:556955
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Short stature, Hypoplasia of the maxilla, Genu valgum, Slender long bones with narrow diaphyses, ... OMIM:608154
Microform Holoprosencephaly
Short stature, Hypotelorism, Holoprosencephaly, Intrauterine growth retardation, Cyclopia, Tetral... ORPHA:280200
Temtamy Preaxial Brachydactyly Syndrome
Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f... ORPHA:363417
Blepharocheilodontic Syndrome 1
Neural tube defect, Clinodactyly, Hypertelorism, Cutaneous syndactyly OMIM:119580
Keipert Syndrome
Broad hallux phalanx, Short stature, Short hallux, Aplasia/Hypoplasia of the distal phalanges of ... ORPHA:2662
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Schilbach-Rott Syndrome
Short stature, Micrognathia, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Hypot... OMIM:164220
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Toe syndactyly, Short stature, Camptodactyly of finger, Proximal placement of ... ORPHA:261211
Meckel Syndrome 14
Microretrognathia, Occipital encephalocele, Syndactyly, Bowing of the long bones, Postaxial polyd... OMIM:619879
Solitary Median Maxillary Central Incisor
Cyclopia, Short stature, Holoprosencephaly, Hypotelorism OMIM:147250
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Brachydactyly, Hypertelorism, Micrognathia, Hypoplasia of the maxilla,... OMIM:601812
Prader-Willi Syndrome Due To Translocation
Micrognathia, Hypotelorism, Deeply set eye, Clinodactyly of the 5th finger, Patent foramen ovale,... ORPHA:177907
Harrod Syndrome
Arachnodactyly, Cryptorchidism, Dental malocclusion, Hypotelorism, Abnormal shoulder morphology, ... ORPHA:2115
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Meckel Syndrome, Type 10
Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd... OMIM:614175
Caudal Duplication
Cryptorchidism, Myelomeningocele, Spinal cord lesion, Spina bifida ORPHA:1756
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Short palm, Synostosis of carpal bones, Encephalocele, Short ... ORPHA:90652
20P12.3 Microdeletion Syndrome
Broad hallux phalanx, Short stature, Hypertelorism, Hypoplasia of the maxilla, Atrial septal defe... ORPHA:261295
Multicentric Carpotarsal Osteolysis Syndrome
Ulnar deviation of the hand, Micrognathia, Wrist swelling, Hypoplasia of the maxilla, Osteolysis ... OMIM:166300
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Postaxial polydactyly, Hypertelorism, Hydrocephalus, Me... OMIM:614424
Amyotrophy, Hereditary Neuralgic
Deeply set eye, Short stature, Hypotelorism OMIM:162100
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia OMIM:207950
Schisis Association
Encephalocele, Anencephaly, Spina bifida, Micromelia ORPHA:63862
Isolated Hemihyperplasia
Cryptorchidism, Myelomeningocele ORPHA:2128
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Hypertelorism, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus, A... OMIM:601499
Orofaciodigital Syndrome Vi
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Hy... OMIM:277170
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Micrognathia, Postnatal growth retardation, Cryptorchidism, Short 5th finger, Polydac... ORPHA:397590
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Broad hallux, 1-2 toe syndactyly, Ventricular septal defect, Tapered finger, Partial anomalous pu... OMIM:301044
Dislocation Of The Hip-Dysmorphism Syndrome
Prominence of the premaxilla, Congenital hip dislocation, Hypertelorism, Patent ductus arteriosus... ORPHA:2412
Anophthalmia Plus Syndrome
Deviation of finger, Spina bifida, Hypertelorism ORPHA:1104
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Ventricular septal defect, Spina bifida ORPHA:2345
Pelger-Huet Anomaly
Ventricular septal defect, Hypertelorism, Upper limb undergrowth, Polydactyly, Short 3rd metacarp... OMIM:169400
Fanconi Anemia, Complementation Group D2
Short stature, Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Hydrocephalus... OMIM:227646
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Short stature, ... ORPHA:794
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Abnormality of the hum... ORPHA:3186
Chromosome 5P13 Duplication Syndrome
Single transverse palmar crease, Hypertelorism, Long fingers, Hypotelorism, Large hands, Proptosis OMIM:613174
Maternal Phenylketonuria
Ventricular septal defect, Bifid distal phalanx of the thumb, Micrognathia, Double outlet right v... ORPHA:2209
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Hydrocephalus OMIM:618302
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Frontorhiny
Encephalocele, Camptodactyly of finger, Hypertelorism, Hypoplasia of the maxilla, Hypoplastic fro... ORPHA:391474
Glutathionuria
Hypotelorism OMIM:231950
Hartsfield Syndrome
Syndactyly, Alobar holoprosencephaly, Hypertelorism, Cryptorchidism, Lobar holoprosencephaly, Hyp... OMIM:615465
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Orofaciodigital Syndrome Xvii
Short stature, Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Cent... OMIM:617926
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Hypotelorism OMIM:616281
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Short stature, Hypertelorism, Micrognathia, Cryptorchidism, 2-3 toe cu... OMIM:618454
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short stature, Short middle phalanx of the 2nd finger, Hypoplasia of the m... OMIM:156510
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi... OMIM:101800
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum ORPHA:63260
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Proptosis, Short stature, Short distal phalanx of finger ORPHA:2776
Trichothiodystrophy 3, Photosensitive
Natal tooth, Short stature, Bilateral cryptorchidism, Carious teeth, Hypotelorism, Intrauterine g... OMIM:616395
Microcephalic Primordial Dwarfism, Dauber Type
Short stature, Abnormal carpal morphology, Madelung deformity, Hypotelorism, Severe postnatal gro... ORPHA:319675
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hypotelorism OMIM:618718
Sirenomelia
Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia ORPHA:3169
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Hypotelorism, Lobar holoprosencephaly, Growth delay, Hypoplasia of the zygomatic bone, Neonatal d... OMIM:618500
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Trichothiodystrophy 8, Nonphotosensitive
Retrognathia, Hypotelorism OMIM:619691
Holoprosencephaly 9
Short stature, Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Cryptorchidism, Hydroceph... OMIM:610829
Congenital Disorder Of Glycosylation, Type Iif
Deeply set eye, Clinodactyly, Hypotelorism OMIM:603585
Holoprosencephaly 7
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Hypertelorism, Hydrocephalus, Lobar holop... OMIM:610828
Developmental Delay, Language Impairment, And Ocular Abnormalities
Tethered cord, Short stature, Myelomeningocele, Pulmonic stenosis, Contracture of the proximal in... OMIM:620141
Phaver Syndrome
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Myelomenin... ORPHA:2876
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Hypertelorism, Hydrocephalus, Mal... OMIM:620157
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... ORPHA:1106
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Hypotelorism ORPHA:477673
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Ventricular septal defect, Hypertelorism, Micrognathia, Cryptorchidism... ORPHA:2789
15Q24 Microdeletion Syndrome
Short stature, Proximal placement of thumb, Hypertelorism, Abnormal thumb morphology, Abnormal to... ORPHA:94065
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, Atrial septal defect, Congenital hip dislocation, Hypertelorism, Aqueducta... OMIM:619512
Ring Chromosome 7 Syndrome
Mandibular prognathia, Short stature, Single transverse palmar crease, Situs inversus totalis, Sm... ORPHA:1449
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Tapered finger, Lymphedema, Hypertelorism, Flattened epiphysis, Genu valgum... OMIM:607131
Holoprosencephaly 3
Hypotelorism, Proptosis, Holoprosencephaly, Malar flattening, Cyclopia OMIM:142945
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Edema of the dorsum of hands, Micrognathia, Femoral bowing, Abnormal... OMIM:274000
Multicentric Osteolysis, Nodulosis, And Arthropathy
Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty... OMIM:259600
Limb Body Wall Complex
Cutaneous finger syndactyly, Atrial septal defect, Aplasia of the proximal phalanges of the hand,... ORPHA:2369
Lowry-Maclean Syndrome
Single transverse palmar crease, Delayed eruption of primary teeth, Micrognathia, Bilateral crypt... ORPHA:2409
Isolated Posterior Meningocele
Tethered cord, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia,... ORPHA:268810
Holoprosencephaly 4
Hypotelorism, Semilobar holoprosencephaly OMIM:142946
Trichothiodystrophy
Ventricular septal defect, Hypertelorism, Carious teeth, Cryptorchidism, Hypoplasia of mandible r... ORPHA:33364
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Paresis of extensor muscles of the big toe, Abnormality of the hand, Hand muscle weakness, Hydroc... ORPHA:99947
Acrodysostosis
Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu... ORPHA:950
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Cerebrocostomandibular Syndrome
Ventricular septal defect, Short stature, Spina bifida, Micrognathia, Myelomeningocele, Meningoce... ORPHA:1393
Koolen-De Vries Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Short stature, Cryptorchi... OMIM:610443
Joubert Syndrome 7
Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum OMIM:611560
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of the wrist, Camptodactyly of finger, Hypertelorism, Hypoplasia of the maxilla, ... ORPHA:1529
Bardet-Biedl Syndrome 19
Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly, Partial atrioventri... OMIM:615996
Lateral Meningocele Syndrome
Tethered cord, Bicuspid aortic valve, Ventricular septal defect, Short stature, Hypertelorism, Mi... OMIM:130720
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Short stature, Preaxial polyd... OMIM:617927
Iniencephaly
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Polyhydramnios, Hydrocephalus, Myelo... ORPHA:63259
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Hypertelorism,... OMIM:617866
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Micrognathia, Cryptorch... ORPHA:2879
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microretrognathia, 2-5 finger syndactyly, Severe short stature, Camptodactyly of finger, Cryptorc... ORPHA:468631
Diaphanospondylodysostosis
Narrow pelvis bone, Myelomeningocele ORPHA:66637
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Trigonocephaly 1
Hypotelorism OMIM:190440
Chromosome 3Pter-P25 Deletion Syndrome
Overlapping toe, Short stature, Postaxial polydactyly, Tapered finger, Hypertelorism, Cryptorchid... OMIM:613792
Greenberg Dysplasia
Micromelia, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Hydrops fetalis, Tetraphocom... OMIM:215140
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypertelorism, Cryptorchidism, Polydactyly, Intrauterine growth retardation, Hypoplastic ischia OMIM:616910
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Short stature, Postaxial polydactyly, Tapered finger, Patent ductus arteriosus, Small hand, Hip d... OMIM:300968
Short Stature, Microcephaly, And Endocrine Dysfunction
Short stature, Cryptorchidism, Dilated cardiomyopathy, Hypotelorism, Deeply set eye, Disproportio... OMIM:616541
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Hypoplasia of the max... ORPHA:397973
Atelosteogenesis, Type Iii
Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Elbow dislocation, Tombstone-shaped proximal... OMIM:108721
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypotelorism, Hypertrophic cardiomyopathy, Single transverse palmar crease, Oligohydramnios OMIM:619053
Wildervanck Syndrome
Meningocele ORPHA:3456
10Q22.3Q23.3 Microdeletion Syndrome
Microretrognathia, Curved middle phalanx of the 4th toe, Arachnodactyly, Hypertelorism, Patent du... ORPHA:276413
Polydactyly, Postaxial, Type A8
Short stature, Postaxial polydactyly, Genu valgum OMIM:618123
Trisomy 18
Microretrognathia, Ventricular septal defect, Camptodactyly of finger, Spina bifida, Hyperteloris... ORPHA:3380
Andersen Cardiodysrhythmic Periodic Paralysis
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Short... OMIM:170390
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cryptorchidism, Finger joint hypermobility, Hypotelorism OMIM:244200
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Dental malocclusion, Micrognathia, Polyhydramnios, Hypotelorism ORPHA:329178
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Down-sloping shoulders, Spina bifida, Hypertelorism, Palmar pits, Hydrocep... OMIM:109400
Coffin-Siris Syndrome 1
Single transverse palmar crease, Prominent interphalangeal joints, Hypotelorism, Atrial septal de... OMIM:135900
Orofaciodigital Syndrome Viii
Syndactyly, Short stature, Hypertelorism, Polydactyly, Short tibia OMIM:300484
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Short stature, Camptodactyly of finger, Cryptorchidism, Meningocele, Anomalous... ORPHA:2311
Vici Syndrome
Cardiomyopathy, Hypertelorism, Short stature, Hypotelorism ORPHA:1493
Craniosynostosis 2
Hypotelorism, Supernumerary tooth, Triphalangeal thumb, Brachydactyly OMIM:604757
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Hypotelorism OMIM:615760
Neu-Laxova Syndrome 1
Micromelia, Polyhydramnios, Micrognathia, Calcaneovalgus deformity, Neonatal death, Patent forame... OMIM:256520
Bardet-Biedl Syndrome 16
Polydactyly, Short stature OMIM:615993
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Patent ductus art... OMIM:614576
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, H... ORPHA:2462
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Ventricular septal defect, Short stature, Hypertelorism, Micrognathia, Hydrocephalus, ... ORPHA:363700
Gorlin-Chaudhry-Moss Syndrome
Short stature, Hypertelorism, Hypoplasia of the maxilla, Patent ductus arteriosus, Abnormal metac... ORPHA:2095
Sacral Defect With Anterior Meningocele
Myeloschisis, Tethered cord, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Bi... OMIM:600145
Shprintzen-Goldberg Craniosynostosis Syndrome
Arachnodactyly, Hypertelorism, Metatarsus adductus, Cryptorchidism, Hydrocephalus, Metaphyseal wi... OMIM:182212
Crouzon Syndrome
Hypoplasia of the maxilla, Hydrocephalus, Proptosis, Hypertelorism ORPHA:207
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Mitral valve prolapse, Proptosis, Abnormal epiphysis morphology, Abnor... ORPHA:90653
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polydactyly, Carious teeth,... OMIM:617102
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Short stature, Hypertelorism, Hypoplasia of the maxilla, Right ventric... OMIM:614261
Kyphoscoliotic Ehlers-Danlos Syndrome
Congenital hip dislocation, Arachnodactyly, Bicuspid aortic valve, Abnormality of the hand, Dextr... ORPHA:536545
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Microretrognathia, Natal tooth, Rhizomelia, Postaxial polydactyly, Hypertelorism, ... OMIM:616300
Hogue-Janssen Syndrome 2
Broad hallux, Postaxial polydactyly, Hypertelorism, Hydrocephalus, Hip dysplasia, Deviation of th... OMIM:616362
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Mandibular prognathia, Atrial septal defect, Arachnodactyly, Bicuspid aortic valve, Postaxial pol... OMIM:619721
Solitary Bone Cyst
Abnormal tibia morphology, Abnormal spinal cord morphology, Abnormal pubic bone morphology, Proxi... ORPHA:83468
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Vent... OMIM:607323
Bardet-Biedl Syndrome 4
Cryptorchidism, Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Hypertelorism, Hydrocephalus, Polydactyly, Complete duplica... ORPHA:59315
Acromelic Frontonasal Dysplasia
Encephalocele, Hypertelorism, Cryptorchidism, Meningocele, Patellar hypoplasia, Talipes equinovar... ORPHA:1827
Semilobar Holoprosencephaly
Short stature, Hydrocephalus, Hip dislocation, Hypotelorism, Abnormal heart morphology, Neural tu... ORPHA:220386
Alobar Holoprosencephaly
Short stature, Hydrocephalus, Hip dislocation, Hypotelorism, Abnormal heart morphology, Neural tu... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Hydrocephalus, Hip dislocation, Hypotelorism, Abnormal heart morphology, Neural tu... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Hydrocephalus, Hip dislocation, Hypotelorism, Abnormal heart morphology, Neural tu... ORPHA:93924
Isolated Sedoheptulokinase Deficiency
Short stature, Hypotelorism, Severe postnatal growth retardation, Hip dysplasia, Shallow orbits, ... ORPHA:440713
Suleiman-El-Hattab Syndrome
Microretrognathia, Ventricular septal defect, Single transverse palmar crease, Hypertelorism, Cry... OMIM:618950
Chromosome 17P13.1 Deletion Syndrome
Hallux valgus, Arachnodactyly, Broad hallux, Proximal placement of thumb, Spina bifida, Tapered f... OMIM:613776
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Short stature, Hydrocephalus, Patent ductus arteriosus, Growth dela... OMIM:614886
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele, Broad thumb, Short clavicles ORPHA:60015
Orofaciodigital Syndrome Iv
Toe syndactyly, Short stature, Postaxial polydactyly, Hypertelorism, Micrognathia, Hand polydacty... OMIM:258860
Lujan-Fryns Syndrome
Macroorchidism, Arachnodactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla,... ORPHA:776
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Syndactyly, Short stature, Single transverse palmar crea... OMIM:305400
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Atrial... OMIM:304120
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micromelia, Aplastic clavicle, Postaxial polydactyly, Polyhydramnios, Hydrocephalus, Preaxial pol... OMIM:616546
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Ventricular septal defect, Short stature, Hypertelorism, Micrognathia, Cryptorchidism... OMIM:616975
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Secundum atrial septal defect, Hypotelorism, Deeply set eye, Genu varum, Long toe, ... OMIM:264090
Marbach-Schaaf Neurodevelopmental Syndrome
Hypotelorism, Brachydactyly, Tapered finger OMIM:619680
Alg3-Cdg
Neural tube defect, Abnormal limb bone morphology, Metaphyseal chondrodysplasia, Cardiomyopathy ORPHA:79321
Vacterl With Hydrocephalus
Spina bifida, Polyhydramnios, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Hypoplasia of t... ORPHA:3412
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Mandibular prognathia, Cryptorchidism, Deeply set eye, Hypotelorism OMIM:300486
Cohen Syndrome
Short metacarpal, Short stature, Single transverse palmar crease, Tapered finger, Micrognathia, H... OMIM:216550
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Ventricular septal defect, Cryptorchidism, Hypotelorism, Genu valgum, Growth delay OMIM:617798
Orofaciodigital Syndrome I
Microretrognathia, Syndactyly, Short stature, Hypertelorism, Carious teeth, Myelomeningocele, Hyd... OMIM:311200
Joubert Syndrome 39
Occipital encephalocele, Hypoplastic left heart, Joint contracture of the 5th finger, Postaxial p... OMIM:619562
Lig4 Syndrome
Clinodactyly of the 5th finger, Cryptorchidism, Chronic sinusitis, Hypotelorism OMIM:606593
Congenital Sialidosis Type 2
Edema, Hydrocephalus, Abnormal heart morphology, Polydactyly, Umbilical hernia, Ascites ORPHA:93400
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Hypertelorism, Hypoplasia of the maxilla, Finger clinodactyly, Pectoral ... ORPHA:306542
Osteoglophonic Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, Shallow orb... OMIM:166250
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla, Split hand, Camptodactyly OMIM:246560
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Broad long bones, Short stature, Fifth finger distal phalanx clinodact... OMIM:257850
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista... OMIM:218330
Pycnodysostosis
Obtuse angle of mandible, Rhizomelia, Delayed eruption of primary teeth, Micrognathia, Hypoplasti... ORPHA:763
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Aplasia/Hypoplasia of the thumb, Short stature, Abnormal morphology of ulna, T... ORPHA:1307
Distal Xq28 Microduplication Syndrome
Predominantly lower limb lymphedema, Short stature, Metatarsus adductus, Hypoplasia of the maxill... ORPHA:293939
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, Hypo... OMIM:612474
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Hypoplasia of the maxilla, Complete atrioventricular canal defect, Genu va... OMIM:619142
Neurocutaneous Melanocytosis
Meningocele, Syringomyelia ORPHA:2481
Tarp Syndrome
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypertelorism, Microg... OMIM:311900
Marshall-Smith Syndrome
Bilateral cryptorchidism, Distal widening of metacarpals, Coxa vara, Shallow orbits, Atrial septa... OMIM:602535
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Dental Anomalies And Short Stature
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Mitral valve prolapse, Amelogene... OMIM:601216
Nail-Patella Syndrome
Biceps aplasia, Glenoid fossa hypoplasia, Short stature, Spina bifida, Triceps aplasia, Patellar ... OMIM:161200
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Polyhydramnios, Patent ductus arteriosus, Hypotelorism, Talipes equinovarus, Umbilical hernia OMIM:614557
Coffin-Lowry Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepip... ORPHA:192
Coffin-Siris Syndrome 12
Short stature, Hypertelorism, Hip subluxation, Short thumb, Slender finger, Cryptorchidism, Micro... OMIM:619325
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Short stature, Postnatal growth retardation, Upper limb asymmetry, Polydactyly, Clinodactyly of t... ORPHA:231140
Dysostosis, Stanescu Type
Bowing of the long bones, Short stature, Abnormal dental enamel morphology, Micromelia, Hypertelo... ORPHA:1798
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Single transverse palmar crease, Polyhydramnios, Micrognathia, Hypoplasia ... ORPHA:96334
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly, Hypertelorism, Complete atrioventricular canal defect, Doubl... OMIM:217095
Rubinstein-Taybi Syndrome 1
Single transverse palmar crease, Polyhydramnios, Micrognathia, Bilateral cryptorchidism, Hypoplas... OMIM:180849
Campomelic Dysplasia
Anterior tibial bowing, Polyhydramnios, Micrognathia, Delayed epiphyseal ossification, Patellar h... OMIM:114290
Holoprosencephaly 2
Aplasia of the premaxilla, Alobar holoprosencephaly, Hypotelorism, Proptosis, Single ventricle, H... OMIM:157170
Waardenburg Syndrome Type 1
Mandibular prognathia, Meningocele, Spina bifida ORPHA:894
Trisomy 8Q
Camptodactyly of finger, Hypertelorism, Micrognathia, Cryptorchidism, Myelomeningocele, Deep palm... ORPHA:1752
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Short stature, Decreased testicular size ORPHA:93950
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Sandal gap, Ventricular septal defect, Tapered finger, Microgn... ORPHA:193
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Growth delay, Micrognathia, Short stature, Hypotelorism ORPHA:502423
Culler-Jones Syndrome
Cryptorchidism, Short stature, Postaxial polydactyly, Hypotelorism OMIM:615849
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Focal Dermal Hypoplasia
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Abnormal palmar dermatoglyphics, Sp... ORPHA:2092
Curry-Jones Syndrome
Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningocele, 2-3 finger syndact... OMIM:601707
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Short stature, Coxa val... OMIM:618150
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Situs i... OMIM:615994
Apert Syndrome
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... ORPHA:87
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Abnormal acetabulum morphology, Short stature, Postaxial polydactyly, Hy... ORPHA:397715
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Short palm, Clinodactyly of the 5th f... ORPHA:508498
Martsolf Syndrome 1
Short metacarpal, Short stature, Micrognathia, Metatarsus adductus, Slender ulna, Short toe, Oste... OMIM:212720
Amish Lethal Microcephaly
Spina bifida, Micrognathia ORPHA:99742
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger... ORPHA:435638
Crouzon Syndrome
Mandibular prognathia, Hypertelorism, Hypoplasia of the maxilla, Hydrocephalus, Proptosis, Shallo... OMIM:123500
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele, Hip dislocation ORPHA:2003
20P13 Microdeletion Syndrome
Finger syndactyly, Hypertelorism, Deeply set eye, Polydactyly, Clinodactyly, Brachydactyly ORPHA:313781
Larsen Syndrome
Short metatarsal, Shallow orbits, Atrial septal defect, Spina bifida occulta, Short metacarpal, S... OMIM:150250
Degcags Syndrome
Polyhydramnios, Micrognathia, Hypotelorism, Atrial septal defect, Patent foramen ovale, Syndactyl... OMIM:619488
Vater/Vacterl Association
Occipital encephalocele, Syndactyly, Tethered cord, Ventricular septal defect, Spina bifida, Abse... OMIM:192350
Pseudoaminopterin Syndrome
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... ORPHA:221120
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Overlapping toe, Short stature, Tapered finger, Hypertelorism, Cryptorchidism, Micrognathia, Smal... OMIM:309590
Distal Deletion 19P
Long toe, Ventricular septal defect, Arachnodactyly, Hypoplasia of the maxilla, Tricuspid valve p... ORPHA:96129
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypertelorism, Hypoplasia of the maxilla, Long fingers, Tapered finger, 2-3 toe syndactyly OMIM:218000
Maxillonasal Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla, Short distal phalanx of finger, Aplasia/Hypopla... ORPHA:1248
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Metaphyseal widening, Abnormal tibia morphology, Abnor... ORPHA:321
Weill-Marchesani Syndrome 2
Short metacarpal, Ventricular septal defect, Short stature, Proportionate short stature, Hypoplas... OMIM:608328
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Triphalangeal thumb, Atrial septal defect, Clinodactyly ... ORPHA:84
9Q21.13 Microdeletion Syndrome
Postnatal growth retardation, Cryptorchidism, Abnormal heart morphology, Hip dysplasia, Syringomy... ORPHA:531151
Combined Oxidative Phosphorylation Deficiency 55
Short stature, Single transverse palmar crease, Hypotelorism, Talipes equinovarus, Genu varum OMIM:619743
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Meningocele, Short stature ORPHA:2031
Acromelic Frontonasal Dysostosis
Encephalocele, Syndactyly, Hypertelorism, Cryptorchidism, Preaxial polydactyly, Preaxial foot pol... OMIM:603671
Holoprosencephaly 1
Short stature, Alobar holoprosencephaly, Hypotelorism, Cyclopia, Ethmocephaly, Single ventricle OMIM:236100
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short stature, Microme... OMIM:614091
Neu-Laxova Syndrome
Polyhydramnios, Hypertelorism, Spina bifida, Micromelia, Micrognathia, Trismus, Large hands, Prop... ORPHA:2671
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short stature, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Atrial septal ... ORPHA:79113
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... OMIM:615986
Trisomy 20P
Finger syndactyly, Camptodactyly of finger, Spina bifida, Hypertelorism, Micrognathia, Preaxial h... ORPHA:261318
Microphthalmia, Isolated 4
Absent testis, Postaxial polydactyly OMIM:613094
Retinal Dystrophy With Leukodystrophy
Hypotelorism OMIM:618863
Scalp-Ear-Nipple Syndrome
Mandibular prognathia, Finger syndactyly, Palpebral edema, Short stature, Cardiac myxoma, 3-4 fin... OMIM:181270
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Joubert Syndrome 10
Growth delay, Postaxial polydactyly OMIM:300804
Stormorken Syndrome
Deeply set eye, Short stature, Hypotelorism OMIM:185070
Brachytelephalangic Chondrodysplasia Punctata
Calcaneal epiphyseal stippling, Ventricular septal defect, Proportionate short stature, Hypoplasi... ORPHA:79345
Kagami-Ogata Syndrome
Atrial septal defect, Ventricular septal defect, Polyhydramnios, Coxa valga, Micrognathia, Long f... OMIM:608149
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Postaxial polydactyly OMIM:603387
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Decreased testicular size, Mandibular prognathia, Short stature, Micrognathia, Hypoplasia of the ... OMIM:300534
Vici Syndrome
Hypertelorism, Micrognathia, Postnatal growth retardation, Dilated cardiomyopathy, Hypotelorism, ... OMIM:242840
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Polyhydramnios, Postaxial polydactyly, Cryptorchidism, Short long bone, Brachydactyly OMIM:615633
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Short stature, Hypertelorism, Bilateral cryptorchidism, Microg... ORPHA:2754
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly, Micrognathia OMIM:615761
Galloway-Mowat Syndrome 9
Hypertelorism, Hypotelorism OMIM:619603
Meier-Gorlin Syndrome 5
Short stature, Micrognathia, Elbow dislocation, Cryptorchidism, Irregular femoral epiphysis, Pate... OMIM:613805
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Deeply set eye, Hypoplastic iliac wing, Atrial ... OMIM:139210
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Advanced eruption... OMIM:614753
Dyskeratosis Congenita, Autosomal Recessive 8
Intrauterine growth retardation, Hypotelorism OMIM:620133
Mend Syndrome
Microretrognathia, Broad hallux, Overlapping toe, Short stature, Micrognathia, Long fingers, Hydr... OMIM:300960
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Polyhydramnios, Ventricular septal defect, Postaxial polydactyly OMIM:219730
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypop... OMIM:617895
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla, Short distal phalanx of finger OMIM:300266
Cerebrofacioarticular Syndrome
Syndactyly, Short stature, Lymphedema, Hypertelorism, Micrognathia, Hypoplasia of the maxilla, Ab... ORPHA:314679
Recon Progeroid Syndrome
Prominence of the premaxilla, Arachnodactyly, Short stature, Proximal placement of thumb, Growth ... OMIM:620370
Lathosterolosis
Toe syndactyly, Micrognathia, Postaxial hand polydactyly, Meningocele, Postaxial foot polydactyly... ORPHA:46059
7Q31 Microdeletion Syndrome
Atrial septal defect, Hypertelorism, Hypoplasia of the maxilla, Postnatal growth retardation, Pat... ORPHA:251061
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Thrombocytopenia 6
Deeply set eye, Hypotelorism OMIM:616937
Hermansky-Pudlak Syndrome 10
Retrognathia, Hypotelorism OMIM:617050
Spondylocostal Dysostosis 4, Autosomal Recessive
Short stature, Dextrocardia, Situs inversus totalis, Myelomeningocele, Hydrocephalus, Spina bifid... OMIM:613686
Jacobsen Syndrome
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Ventricular septal defect, Short stature... ORPHA:2308
Waardenburg Syndrome, Type 1
Mandibular prognathia, Myelomeningocele, Spina bifida, Hypertelorism OMIM:193500
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Micrognathia, Bicuspid pulmonary valve, Atrial septal defect, Syndactyly, ... OMIM:610168
Andersen-Tawil Syndrome
Abnormality of dental color, Short stature, Hypertelorism, Micrognathia, Hypoplasia of the maxill... ORPHA:37553
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Aqueductal stenosis, Dextrotranspositio... OMIM:306955
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Nephronophthisis 15
Polydactyly OMIM:614845
Au-Kline Syndrome
Overlapping toe, Postaxial polydactyly, Coxa valga, Cryptorchidism, Lipomyelomeningocele, Dental ... OMIM:616580
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Preax... OMIM:210710
Phakomatosis Pigmentokeratotica
Hemiatrophy, Cryptorchidism, Spina bifida, Lymphedema ORPHA:2874
Cleidocranial Dysplasia 2
Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Delayed eruptio... OMIM:620099
Geroderma Osteodysplasticum
Mandibular prognathia, Hyperextensibility of the finger joints, Severe short stature, Hypertelori... OMIM:231070
Cerebrooculonasal Syndrome
Encephalocele, Postaxial polydactyly, Hypertelorism, Postnatal growth retardation, Hydrocephalus,... OMIM:605627
Van Maldergem Syndrome 2
Short fourth metatarsal, Ulnar deviation of the hand, Hypertelorism, Micrognathia, Cryptorchidism... OMIM:615546
Van Maldergem Syndrome 1
Short fourth metatarsal, Hypertelorism, Micrognathia, Hypoplasia of the maxilla, Dental malocclus... OMIM:601390
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, ... OMIM:600920
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin... OMIM:619503
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... OMIM:300106
Weill-Marchesani Syndrome 1
Ventricular septal defect, Short stature, Proportionate short stature, Hypoplasia of the maxilla,... OMIM:277600
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, Long palm OMIM:300676
Syngap1-Related Developmental And Epileptic Encephalopathy
Deeply set eye, Postaxial polydactyly ORPHA:544254
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Hypertelorism OMIM:137550
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Postaxial polydactyly, Micrognathia, Cryptorchidism, 2-3 toe syndactyl... ORPHA:404440
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the maxilla, Cryptorchidism, Ulnar ... ORPHA:1101
Cloacal Exstrophy
Spina bifida, Myelomeningocele, Abnormal tibia morphology, Hip dislocation, Absent foot, Abnormal... ORPHA:93929
Hypomandibular Faciocranial Dysostosis
Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Atrial septal defect, Malar fl... OMIM:241310
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation OMIM:264270
Joubert Syndrome 37
Short stature, Postaxial polydactyly, Hypertelorism, Cryptorchidism, Deeply set eye, Decreased te... OMIM:619185
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Short stature ORPHA:93945
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Broad hallux, Arachnodactyly, Hypertelorism, Hypoplasia of the maxilla, Hip dislocation, Broad thumb ORPHA:481152
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Hypertelorism OMIM:167730
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Abnormal dental enamel morphology, Hypertelorism, Micrognathia,... ORPHA:861
Carpenter Syndrome 2
Single transverse palmar crease, Bilateral cryptorchidism, Preaxial polydactyly, Coxa vara, Cutan... OMIM:614976
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Hypoplasia of the radiu... ORPHA:245
Bardet-Biedl Syndrome 8
Situs inversus totalis, Postaxial polydactyly OMIM:615985
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla... OMIM:616367
Meier-Gorlin Syndrome 4
Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Patellar aplasia, Birth l... OMIM:613804
Williams-Beuren Syndrome
Hallux valgus, Atrial septal defect, Bicuspid aortic valve, Down-sloping shoulders, Ventricular s... OMIM:194050
Stromme Syndrome
Hypertelorism, Micrognathia, Hydrocephalus, Preaxial polydactyly, Deeply set eye, Stillbirth OMIM:243605
Monosomy 9Q22.3
Delayed eruption of teeth, Palmar pits, Hydrocephalus, Cardiac fibroma, Polydactyly, Umbilical he... ORPHA:77301
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Tethered cord, Spina bifida, Tapered finger, Hypertelorism, Patent ductus arteriosus, Atrioventri... OMIM:619480
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Short stature, Postaxial polydactyly, Polyhydramnios, Prea... OMIM:615503
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Peters-Plus Syndrome
Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Polyhydramn... OMIM:261540
Laurence-Moon Syndrome
Short stature, Polydactyly, Abnormality of the hand OMIM:245800
Marshall Syndrome
Short stature, Hypertelorism, Hypoplasia of the maxilla, Micrognathia, Hypoplastic frontal sinuse... ORPHA:560
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Single transverse palmar crease, Polyhydramnios, Micrognathia, Cryptor... OMIM:247200
Retinitis Pigmentosa 89
Bicuspid aortic valve, Postaxial polydactyly OMIM:618955
Meier-Gorlin Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Cutaneous finger syndactyly, Short p... OMIM:224690
Neurofibromatosis, Type I
Short stature, Spina bifida, Hypertelorism, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthr... OMIM:162200
Rajab Interstitial Lung Disease With Brain Calcifications 1
Short stature, Hypotelorism, Growth delay, Deeply set eye, Anasarca, Intrauterine growth retardat... OMIM:613658
22Q11.2 Deletion Syndrome
Polyhydramnios, Micrognathia, Atrial septal defect, Arachnodactyly, Abnormal dental enamel morpho... ORPHA:567
Hydranencephaly
Postnatal growth retardation, Intrauterine growth retardation, Dilatation of the ventricular cavi... ORPHA:2177
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperextensibility of the finger joints, Macroorchidism, Ventricular septal defect, Arachnodactyl... OMIM:309520
Tarp Syndrome
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hy... ORPHA:2886
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla OMIM:618737
Pagod Syndrome
Encephalocele, Short stature, Spina bifida, Situs inversus totalis, Meningocele, Hypoplastic left... ORPHA:991
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Severe short stature, Hypoplasia... ORPHA:2588
Hallermann-Streiff Syndrome
Natal tooth, Spina bifida, Abnormality of the hand, Micrognathia, Cryptorchidism, Metaphyseal wid... OMIM:234100
Hyperlysinemia
Short stature, Hypotelorism ORPHA:2203
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology, Autoamputation of digits, Honeycomb palmoplantar hyperkeratosis ORPHA:494
Pallister-Hall Syndrome
Holoprosencephaly, Atrial septal defect, Atrioventricular canal defect, Microretrognathia, Mesoax... ORPHA:672
Acrofacial Dysostosis, Cincinnati Type
Short stature, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Femoral bowing,... OMIM:616462
Bartsocas-Papas Syndrome 1
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... OMIM:263650
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Short stature, Brachydactyly OMIM:613819
Aicardi Syndrome
Postnatal growth retardation, Prominence of the premaxilla, Proximal placement of thumb, Spina bi... OMIM:304050
Tetrasomy 9P
Micrognathia, Deeply set eye, Clinodactyly of the 5th finger, Patent foramen ovale, Amelogenesis ... ORPHA:3310
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Polyhydramnios, Micrognathia, Cervical cord compression, Atrial septal def... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Polyhydramnios, Micrognathia, Cervical cord compression, Atrial septal def... ORPHA:353277
Split Cord Malformation
Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydroc... ORPHA:573278
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
White-Kernohan Syndrome
Hip dysplasia, Retrognathia, Hypotelorism OMIM:619426
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Intrauterine growth retardation, Postaxial polydactyly, Oligohydramnios OMIM:615824
Meier-Gorlin Syndrome 3
Microretrognathia, Short stature, Aplasia/Hypoplasia of the patella, Micrognathia, Cryptorchidism... OMIM:613803
Orofaciodigital Syndrome Xiv
Microretrognathia, Occipital encephalocele, Natal tooth, Broad hallux, Ventricular septal defect,... OMIM:615948
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Hypoplasia of the maxilla, Cryptorchidism ORPHA:178303
Adnp Syndrome
Broad hallux, Single transverse palmar crease, Sandal gap, Short stature, Abnormal toe morphology... ORPHA:404448
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postaxial polydactyly, Edema, Polyhydramnios, Postnatal growth retardation, Epiphysea... OMIM:302960
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phocomelia, Elbow anky... OMIM:276820
Phosphoribosylpyrophosphate Synthetase Superactivity
Cryptorchidism, Short stature, Hypotelorism OMIM:300661
X-Linked Cerebral Adrenoleukodystrophy
Myelopathy, Abnormal spinal cord morphology ORPHA:139396
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wide... OMIM:613091
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Overlapping toe, Short stature, Polyhydramnios, Hypertel... OMIM:213980
Lumbar Syndrome
Cryptorchidism, Myelomeningocele, Spina bifida ORPHA:83628
Joubert Syndrome 20
4-5 toe syndactyly, Postaxial polydactyly OMIM:614970
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia OMIM:601809
Joubert Syndrome 23
Polydactyly OMIM:616490
Mosaic Trisomy 20
Ventricular septal defect, Down-sloping shoulders, Micrognathia, Cryptorchidism, Abnormal spinal ... ORPHA:1724
Nablus Mask-Like Facial Syndrome
Sandal gap, Single transverse palmar crease, Short hallux, Tapered finger, Hypertelorism, Cryptor... OMIM:608156
Joubert Syndrome 27
Polydactyly OMIM:617120
Septooptic Dysplasia
Short stature, Polydactyly, Short finger OMIM:182230
Branchioskeletogenital Syndrome
Amelia involving the lower limbs, Mandibular prognathia, Hypertelorism, Upper limb peromelia, Hyp... ORPHA:1299
Marfan Syndrome
Mitral valve calcification, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Microgna... ORPHA:558
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Arachnodactyly, Ventricular septal defect, Short stature, Cryptorc... ORPHA:464306
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Microretrognathia ORPHA:228396
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Hypoplasia of the maxilla, Patent ductus arteriosus, 2-3 toe syndactyl... OMIM:106260
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Severe postnatal growth retardation, H... ORPHA:2399
Cranioectodermal Dysplasia 2
Syndactyly, Rhizomelia, Short stature, Polyhydramnios, Hypertelorism, Micrognathia, Postaxial han... OMIM:613610
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Short stature, Hypertelorism, Hypoplasia of the maxilla, Carious teeth... ORPHA:50814
Helsmoortel-Van Der Aa Syndrome
Atrial septal defect, Broad hallux, Sandal gap, Short stature, Tapered finger, Hypertelorism, Cry... OMIM:615873
Axenfeld-Rieger Syndrome
Hypoplasia of the maxilla, Growth delay, Hypertelorism ORPHA:782
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Orofaciodigital Syndrome V
Sandal gap, Ventricular septal defect, Postaxial polydactyly, Unilateral cryptorchidism, Hypertel... OMIM:174300
Cleft Lip/Palate
Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta... ORPHA:199306
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Postaxial polydactyly, Hypertelorism, Micrognathia, Complete atrioventricular canal ... OMIM:617925
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Abnormal distal phalanx morphology of finger, Hypoplasia of the premaxilla... ORPHA:2673
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Polyhydramnios, Narrow greater sciatic notch, Short palm, Atrial septal de... OMIM:312870
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Atrial septal defect, Overlapping toe, Short stature, Hypertelorism, Bilat... OMIM:617402
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
3Mc Syndrome 2
Prominence of the premaxilla, Limited elbow movement, Hypertelorism, Postnatal growth retardation... OMIM:265050
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Micrognathia, Polydactyly, Abnormal heart morphology ORPHA:314655
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology ORPHA:139578
Ear-Patella-Short Stature Syndrome
Severe short stature, Camptodactyly of finger, Aplastic clavicle, Micrognathia, Elbow dislocation... ORPHA:2554
Immunodeficiency 47
Hypotelorism OMIM:300972
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Toe syndactyly, Hypertelorism, Hypoplasia of the maxilla, Cryptorchidism, Carious teeth, Split ha... OMIM:129900
Rapp-Hodgkin Syndrome
Syndactyly, Short stature, Hypoplasia of the maxilla, Carious teeth, 2-3 toe cutaneous syndactyly... OMIM:129400
Kinsship Syndrome
Mandibular prognathia, Short stature, Single transverse palmar crease, Coxa valga, Hypertelorism,... OMIM:619297
Craniosynostosis And Dental Anomalies
Hallux valgus, Mandibular prognathia, Delayed eruption of teeth, Broad hallux, Short stature, Hyp... OMIM:614188
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Ventricular septal defect, Abnormal pulmonary valve morphology, Short stature, Tap... ORPHA:268261
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, Short stature, 2... OMIM:614099
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Postaxial polydactyly, Cryptorchidism, Increase... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Postaxial polydactyly, Cryptorchidism, Increase... ORPHA:352665
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening, Ulnar deviation of the hand, Hypertelorism OMIM:122880
Focal Dermal Hypoplasia
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifid... OMIM:305600
Rabson-Mendenhall Syndrome
Mandibular prognathia, Ventricular septal defect, Short stature, Cardiomyopathy, Severe postnatal... ORPHA:769
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Atrial septal defect, Anomaly of lower limb diaphyses, Arachnodactyly, Bicus... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Atrial septal defect, Anomaly of lower limb diaphyses, Arachnodactyly, Bicus... ORPHA:363958
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Overlapping fingers, Overlapping toe, Hypertelorism, Micrognathia, Hyp... ORPHA:798
Khan-Khan-Katsanis Syndrome
Tethered cord, Patent ductus arteriosus after premature birth, Short stature, Postaxial polydacty... OMIM:618460
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Postaxial polydactyly, Hypertelorism, Hydrocephalus, Hip dysplasia, Clinodactyly of... ORPHA:457284
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Angelman Syndrome
Mandibular prognathia, Deeply set eye, Hypoplasia of the maxilla OMIM:105830
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruption failure, E... OMIM:182250
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Flexion contracture of finger, Meningocele, Palmoplantar keratoderma ORPHA:1010
Biliary, Renal, Neurologic, And Skeletal Syndrome
Edema, Polyhydramnios, Aqueductal stenosis, Secundum atrial septal defect, Primum atrial septal d... OMIM:619534
Elsahy-Waters Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypertelorism, Bilateral cryptorchidism, Hypopl... OMIM:211380
Floating-Harbor Syndrome
Short metacarpal, Brachydactyly, Short stature, Persistence of primary teeth, Avascular necrosis ... ORPHA:2044
Goldberg-Shprintzen Syndrome
Ventricular septal defect, Tapered finger, Hypoplasia of the maxilla, Increased femoral anteversi... OMIM:609460
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypertelorism, Micrognathia, Cryptorchidism, Hy... OMIM:209885
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
3Mc Syndrome 3
Short stature, Hypertelorism, Cryptorchidism, Preaxial polydactyly, Growth delay, Radioulnar syno... OMIM:248340
Okamoto Syndrome
Tethered cord, Ventricular septal defect, Hypertelorism, Abnormal left ventricle morphology, Prim... ORPHA:2729
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Deeply set eye, Hypoplasia of the maxilla, Decreased testicular size ORPHA:3044
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Edema, Long fingers, ... OMIM:617527
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly, Hand oligodactyly OMIM:207770
Bardet-Biedl Syndrome 1
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... OMIM:209900
Ablepharon Macrostomia Syndrome
Toe syndactyly, Camptodactyly of finger, Hypoplasia of the maxilla, Growth delay, Hypoplasia of t... ORPHA:920
Stickler Syndrome
Arachnodactyly, Protrusio acetabuli, Abnormal dental enamel morphology, Hypertelorism, Micrognath... ORPHA:828
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Mullegama-Klein-Martinez Syndrome
Short stature, Micrognathia, Proptosis, Hypoplastic left heart, Polydactyly, Apical muscular vent... OMIM:301022
Cowden Syndrome 5
Hydrocele testis, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Micrognathia OMIM:615108
Cowden Syndrome 6
Hydrocele testis, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Micrognathia OMIM:615109
Faciocardiomelic Syndrome
Micrognathia, Dental malocclusion, Slender long bone, Polydactyly, Hypoplastic pelvis, Common atr... OMIM:612731
Zttk Syndrome
Ventricular septal defect, Short stature, Hypoplasia of the maxilla, Patent ductus arteriosus, Sm... OMIM:617140
Arima Syndrome
Postaxial foot polydactyly, Occipital meningocele, Postaxial hand polydactyly, Growth delay OMIM:243910
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Short stature, Postaxial polydactyly, Polyhydramnios, Postaxial hand polydactyly, Patent ductus a... OMIM:617088
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Short femur, Abnormal mitochondrial shape, Patent ductus arteriosus, Growth delay,... ORPHA:17
Neurocardiofaciodigital Syndrome
Syndactyly, Short stature, Patent ductus arteriosus, Retrognathia, Double inlet left ventricle, P... OMIM:619869
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Arachnodactyly, Hypertelorism, Micrognathia, Proptosis, Oligohydram... OMIM:614437
Cleft Velum
Hypoplasia of the maxilla ORPHA:99772
Spinal Arteriovenous Metameric Syndrome
Abnormal spinal cord morphology, Spinal arteriovenous malformation ORPHA:53721
Cowden Syndrome 1
Hydrocele testis, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Micrognathia OMIM:158350
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Part... OMIM:164210
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Dyskeratosis Congenita
Short stature, Hypoplasia of the maxilla, Carious teeth, Palmoplantar keratoderma, Taurodontia, I... ORPHA:1775
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal spinal cord morphology, Flexion contracture of finger, Camptodactyly ORPHA:88628
Bardet-Biedl Syndrome 20
Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, ... OMIM:619471
Norrie Disease
Cryptorchidism, Hypotelorism, Deeply set eye, Delayed puberty, Malar flattening ORPHA:649
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly, Hypertelorism ORPHA:163681
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Broad hallux, Delayed eruption of primary teeth, Hypertelorism, Absent ra... OMIM:149730
Oeis Complex
Congenital hip dislocation, Tethered cord, Cryptorchidism, Myelomeningocele, Hydrocephalus, Talip... OMIM:258040
Choanal Atresia
Chronic sinusitis, Polydactyly ORPHA:137914
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta OMIM:267750
Combined Pituitary Hormone Deficiencies, Genetic Forms
Pituitary dwarfism, Growth delay, Polydactyly, Holoprosencephaly, Delayed puberty, Abnormal digit... ORPHA:95494
Exstrophy-Epispadias Complex
Cryptorchidism, Hydrocephalus, Spina bifida, Abnormal heart morphology ORPHA:322
Aicardi Syndrome
Prominence of the premaxilla, Hip dysplasia, Small hand, Delayed puberty ORPHA:50
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly OMIM:615989
Hypohidrotic Ectodermal Dysplasia
Hypoplasia of the maxilla, Sinusitis, Xerostomia ORPHA:238468
Acute Disseminated Encephalomyelitis
Abnormal spinal cord morphology, Cerebral edema, Myelitis ORPHA:83597
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Toe syndactyly, Hypoplasia of the maxilla, Cryptorchidism, Carious teeth, Split hand, Xerostomia,... OMIM:604292
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Legius Syndrome
Short stature, Mitral valve prolapse, Diaphyseal dysplasia, Polydactyly, Pulmonic stenosis, Clino... ORPHA:137605
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Arachnodactyly, Proportionate short stature, Absent thumb, Hypoplasia of the maxilla, Patent duct... ORPHA:500150
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hallux valgus, Congenital hip dislocation, Overlapping toe, Short stature, Postaxial polydactyly,... ORPHA:480880
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... OMIM:607932
Adrenomyeloneuropathy
Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology ORPHA:139399
Primrose Syndrome
Hip contracture, Short stature, Hypertelorism, Metatarsus adductus, Bilateral cryptorchidism, Cry... OMIM:259050
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Abnormal spinal cord morphology, Sinusitis, Cerebral edema ORPHA:68
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypoplasia of the maxilla, Taurodontia OMIM:305100
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Superficial Siderosis
Atrophy of the spinal cord, Abnormal spinal cord morphology ORPHA:247245
Primary Sjögren Syndrome
Abnormal spinal cord morphology, Xerostomia ORPHA:289390
Axenfeld-Rieger Syndrome, Type 1
Hypoplasia of the maxilla OMIM:180500

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 Ift57

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 Ift57.

No publications found that use IMPC mice or data for Ift57.

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
Ift57tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ift57tm99161(L1L2_Bact_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors

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