Gene: Ift57 MGI:1921166

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.

Human diseases associated with Ift57 (1 diseases)
Human diseases predicted to be associated with Ift57 (610 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Orofaciodigital Syndrome Xviii		Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ...	OMIM:617927

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

Disease	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	Joint contracture of the hand, Small hypothenar eminence, Mitral valve prolapse, Talipes equinova...	OMIM:211960
Syndactyly Type 2	Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t...	ORPHA:93403
6P22 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Hypotelorism, Deeply set eye, Hydrocephalus, Patent ductus arter...	ORPHA:251046
Craniofacial Conodysplasia	Cone-shaped epiphyses of the phalanges of the hand, Spinal cord compression, Hydrocephalus	ORPHA:85168
Holoprosencephaly 5	Alobar holoprosencephaly, Semilobar holoprosencephaly, Syntelencephaly, Hypotelorism, Hydrocephal...	OMIM:609637
Weyers Acrofacial Dysostosis	Postaxial foot polydactyly, Hypotelorism, Brachydactyly, Postaxial hand polydactyly, Clinodactyly...	OMIM:193530
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Severe short stature, Cone-shaped epiphysis, Abnormality of the wrist, Malar flattening, Hypotelo...	ORPHA:2511
Acalvaria	Hydrocephalus, Spina bifida, Postaxial hand polydactyly, Holoprosencephaly, Hypertelorism	ORPHA:945
Craniotelencephalic Dysplasia	Hypotelorism, Frontal encephalocele	OMIM:218670
Richieri-Costa/Guion-Almeida Syndrome	Malar flattening, Hypotelorism, Deeply set eye, Abnormal digit morphology, Palmoplantar cutis lax...	OMIM:268850
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Spinal dysraphism, Proptosis, Finger syndactyly, Micromelia, Tetralogy of ...	ORPHA:1908
Chromosome 6Q11-Q14 Deletion Syndrome	Umbilical hernia, Micrognathia, Hypotelorism, Single transverse palmar crease, Talipes equinovaru...	OMIM:613544
Congenital Absence Of Upper Arm And Forearm With Hand Present	Abnormal heart morphology, Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Abno...	ORPHA:294975
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida, Hypertelorism	ORPHA:1931
Joubert Syndrome 15	Exencephaly, Preaxial polydactyly	OMIM:614464
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Polydactyly, Postaxial, Type A1	Broad thumb, Postaxial foot polydactyly, Y-shaped metacarpals, Cutaneous syndactyly of toes, Prea...	OMIM:174200
Frontonasal Dysplasia 1	Cranium bifidum occultum, Hypoplasia of the maxilla, Joint contracture of the hand, Anterior basa...	OMIM:136760
Ossification Of The Posterior Longitudinal Ligament Of Spine	Myelopathy, Spinal cord compression	OMIM:602475
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Coarse metaphyseal trabecularization, Epiphyseal stippling, Hypotelorism, Bowing of the long bone...	ORPHA:1952
Mosaic Trisomy 9	Elbow dislocation, Endocardial fibroelastosis, Micrognathia, Ventricular septal defect, Talipes e...	ORPHA:99776
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Clinodactyly, Intrauterine growth retardation, Micrognathia, Hypotelorism, Deeply set eye, Single...	OMIM:613604
Pde4D Haploinsufficiency Syndrome	Postnatal growth retardation, Micrognathia, Broad phalanx, Bilateral coxa valga, Hypertelorism, S...	ORPHA:439822
Alkuraya-Kucinskas Syndrome	Hand clenching, Clinodactyly, Overlapping toe, Micrognathia, Pleural effusion, Overlapping finger...	OMIM:617822
Cranioectodermal Dysplasia	Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abnormal diaphysis morphology, Abn...	ORPHA:1515
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly, Occipital encephalocele	OMIM:213010
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Holoprosencephaly 11	Holoprosencephaly, Proptosis, Hypotelorism	OMIM:614226
Trisomy 1Q	Microretrognathia, Toe syndactyly, Preaxial hand polydactyly, Camptodactyly of finger, Increased ...	ORPHA:261344
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect, Spina bifida...	ORPHA:2476
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal epiphysis morphology, Micrognathia, Metat...	ORPHA:3082
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Small hand, Malar flattening, Hypotelorism, Deeply set eye, Hypertelorism, Clinodactyly of the 5t...	OMIM:618672
Acropectorovertebral Dysplasia	Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt...	ORPHA:957
Xk Aprosencephaly Syndrome	Hypotelorism, Ventricular septal defect, Atrial septal defect, Abnormal morphology of the radius,...	ORPHA:3469
Meckel Syndrome, Type 11	Oligohydramnios, Occipital encephalocele, Polydactyly	OMIM:615397
Nevus Comedonicus Syndrome	Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta	ORPHA:64754
Tonne-Kalscheuer Syndrome	Broad thumb, Abnormal heart morphology, Micrognathia, Malar flattening, Hypotelorism, Brachydacty...	OMIM:300978
Pseudotrisomy 13 Syndrome	Postaxial foot polydactyly, Encephalocele, Complete atrioventricular canal defect, Ventricular se...	OMIM:264480
Joubert Syndrome 18	Occipital encephalocele, Retrognathia, Intrauterine growth retardation, Trident pelvis, Ventricul...	OMIM:614815
Thoraco-Abdominal Enteric Duplication	Camptodactyly of finger, Abnormal tricuspid valve morphology, Diastomatomyelia, Dextrocardia, Men...	ORPHA:1759
Cataract-Intellectual Disability-Hypogonadism Syndrome	Ulnar deviation of finger, Abnormal distal phalanx morphology of finger, Micrognathia, Malar flat...	ORPHA:1387
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi...	OMIM:618167
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Tetralogy of Fallot, Hypotelorism, Enamel agenesis, Single transverse palmar crease, Radioulnar s...	OMIM:614701
Endocrine-Cerebroosteodysplasia	Natal tooth, Sandal gap, Micromelia, Preaxial polydactyly, Micrognathia, Fibular bowing, Hypotelo...	OMIM:612651
10Q22.3Q23.3 Microduplication Syndrome	Tetralogy of Fallot, Microretrognathia, Hypotelorism, Deeply set eye	ORPHA:276422
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited...	ORPHA:3269
Distal Deletion 10Q	2-3 toe cutaneous syndactyly, Hip dislocation, Proptosis, Clinodactyly, Prominent fingertip pads,...	ORPHA:96148
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Fifth finger distal phalanx clinodactyly, Postnatal growth retardation, Hypotelorism, Ventricular...	ORPHA:3369
Syndactyly, Type Iv	Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy...	OMIM:186200
Acrootoocular Syndrome	Small hypothenar eminence, Dental malocclusion, Delayed eruption of teeth, Short toe, Short finge...	ORPHA:2980
Li-Ghorbani-Weisz-Hubshman Syndrome	Overlapping toe, Hypotelorism, Ventricular septal defect, Atrial septal defect, Clinodactyly of t...	OMIM:618974
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of the premaxilla, Umbilical hernia, Micrognathia, Encephalocele, Hypotelorism, Hydroc...	ORPHA:2166
Trigonocephaly With Short Stature And Developmental Delay	Short stature, Clinodactyly of the 5th finger, Hypotelorism, Ventricular septal defect	OMIM:314320
Holoprosencephaly-Craniosynostosis Syndrome	Short distal phalanx of finger, Hypotelorism, Brachydactyly, Short stature, Clinodactyly of the 5...	ORPHA:2163
Intellectual Developmental Disorder, Autosomal Dominant 7	Intrauterine growth retardation, Micrognathia, Hypotelorism, Deeply set eye, Birth length less th...	OMIM:614104
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Short Stature-Micrognathia Syndrome	Rhizomelia, Broad femoral neck, Retrognathia, Intrauterine growth retardation, Micrognathia, Hypo...	OMIM:617164
Joubert Syndrome 16	Polydactyly, Encephalocele, Hypertelorism	OMIM:614465
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Micrognathia, Proximal radial head dislocation, Hypotelorism, Hypop...	OMIM:602418
Galloway-Mowat Syndrome	Camptodactyly of finger, Intrauterine growth retardation, Micrognathia, Hypotelorism, Adducted th...	ORPHA:2065
Bardet-Biedl Syndrome 7	Clinodactyly, Malar flattening, Deeply set eye, 2-3 toe syndactyly, Polydactyly, Postaxial polyda...	OMIM:615984
Carpenter Syndrome 1	Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Micrognathia, Genu valg...	OMIM:201000
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Rhizomelia, Hypoplastic scapulae, Flared metaphysis, Delayed ossification of pubic rami, Microgna...	OMIM:602471
Cutis Laxa, Autosomal Recessive, Type Iib	Congenital hip dislocation, Intrauterine growth retardation, Malar flattening, Hypotelorism, Deep...	OMIM:612940
Oculodentodigital Dysplasia	Carious teeth, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Deeply set eye, Ven...	ORPHA:2710
Cutis Laxa, Autosomal Recessive, Type Iiia	Congenital hip dislocation, Umbilical hernia, Intrauterine growth retardation, Hypotelorism, Tali...	OMIM:219150
Global Developmental Delay With Or Without Impaired Intellectual Development	Hypotelorism, Ventricular septal defect, Atrial septal defect, Short stature, Patent ductus arter...	OMIM:618330
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Retrognathia, Micrognathia, Hypotelorism, Hydrocephalus, Brachydactyly, Growth delay	OMIM:620156
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Atrioventricular canal de...	ORPHA:1120
Intellectual Developmental Disorder, Autosomal Dominant 74	Intrauterine growth retardation, Hypertelorism, Hypotelorism, Deeply set eye	OMIM:620688
1Q41Q42 Microdeletion Syndrome	Hypotelorism, Deeply set eye, Talipes equinovarus, Short stature, Holoprosencephaly, Growth delay	ORPHA:250999
Trisomy 13	Abnormal pelvic girdle bone morphology, Ectrodactyly, Intrauterine growth retardation, Malar flat...	ORPHA:3378
Frontoocular Syndrome	Proptosis, Micrognathia, Hypotelorism, Atrial septal defect, Pulmonic stenosis	OMIM:605321
Czeizel-Losonci Syndrome	1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Micrognathia, Single tra...	ORPHA:2437
Meckel Syndrome, Type 2	Intrauterine growth retardation, Encephalocele, Polydactyly, Bowing of the long bones, Postaxial ...	OMIM:603194
Hadziselimovic Syndrome	Ventricular hypertrophy, Tetralogy of Fallot, Hypotelorism, Ventricular septal defect, Atrial sep...	OMIM:612946
Chromosome 1Q41-Q42 Deletion Syndrome	Sandal gap, Hypotelorism, Deeply set eye, Ventricular septal defect, Talipes equinovarus, Hyperte...	OMIM:612530
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Slender finger, Clinodactyly, Intrauterine growth retardation, Micrognathia, Hypotelorism, Propor...	ORPHA:391408
Meckel Syndrome, Type 4	Intrauterine growth retardation, Encephalocele, Ventricular septal defect, Bowing of the long bon...	OMIM:611134
Jackson-Weiss Syndrome	Hypoplasia of the maxilla, Toe syndactyly, Proptosis, Preaxial foot polydactyly, Split foot, 2-3 ...	ORPHA:1540
Triphalangeal Thumb, Nonopposable	Triphalangeal thumb, Polydactyly	OMIM:190600
Camptodactyly Syndrome, Guadalajara Type 1	Short distal phalanx of finger, Toe syndactyly, Dental malocclusion, Short toe, Camptodactyly of ...	ORPHA:1327
Lymphedema, Primary, With Myelodysplasia	Long fingers, Tapered finger, Hypotelorism, Lymphedema	OMIM:614038
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Clinodactyly, Hypotelorism, Syndactyly	OMIM:619091
Seckel Syndrome 7	Severe short stature, Intrauterine growth retardation, Hypotelorism, Madelung deformity, Hip dysp...	OMIM:614851
Neu-Laxova Syndrome 2	Toe syndactyly, Proptosis, Finger syndactyly, Intrauterine growth retardation, Micrognathia, Spin...	OMIM:616038
Orofaciodigital Syndrome Ii	Hypoplasia of the maxilla, Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydacty...	OMIM:252100
Humero-Radial Synostosis	Elbow dislocation, Abnormality of the wrist, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, ...	ORPHA:3265
Carpenter Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu...	ORPHA:65759
Camptosynpolydactyly, Complex	Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly	OMIM:607539
Intellectual Disability And Myopathy Syndrome	Congenital hip dislocation, Dental malocclusion, Limited elbow extension, Hypotelorism, Incisor m...	OMIM:619719
Congenital Vertical Talus	Myelomeningocele, Rocker bottom foot, Equinus calcaneus	ORPHA:178382
2Q23.1 Microduplication Syndrome	Broad hallux, Sandal gap, Hypotelorism, Abnormality of the hand, Clinodactyly of the 5th finger	ORPHA:313947
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ...	OMIM:603546
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Intellectual Developmental Disorder, Autosomal Recessive 5	Postnatal growth retardation, Hypotelorism, 4-5 toe syndactyly, Hypertelorism, Short stature	OMIM:611091
Meckel Syndrome, Type 8	Occipital encephalocele, Encephalocele, Polydactyly, Talipes equinovarus, Pericardial effusion	OMIM:613885
Jawad Syndrome	Retrognathia, Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Absent fourth finger dist...	OMIM:251255
Intellectual Developmental Disorder, Autosomal Recessive 13	Slender finger, Hypotelorism, Hypertelorism	OMIM:613192
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Intrauterine growth retardation, Micrognathia, Hypotelorism, Down-sloping shoulders, Delayed pube...	OMIM:616817
Braddock Syndrome	Preaxial hand polydactyly, Intrauterine growth retardation, Micrognathia, Hypotelorism, Short sta...	ORPHA:52047
Hydrolethalus Syndrome 2	Postaxial foot polydactyly, Preaxial foot polydactyly, Micrognathia, Hydrocephalus, Postaxial han...	OMIM:614120
Chromosome 15Q11.2 Deletion Syndrome	Slender finger, Clinodactyly, Short finger, Abnormal heart morphology, Micrognathia, Hypotelorism...	OMIM:615656
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Ventricular septal defect, Hydrocephalus, Hypertelorism, Syndactyly	OMIM:602501
Developmental And Epileptic Encephalopathy 87	Single transverse palmar crease, Hypotelorism, Hypertelorism	OMIM:618916
Vitamin K Antagonist Embryofetopathy	Short distal phalanx of finger, Proptosis, Myelomeningocele, Intrauterine growth retardation, Epi...	ORPHA:1914
Baller-Gerold Syndrome	Finger aplasia, Aplasia/Hypoplasia of the radius, Proptosis, Intrauterine growth retardation, Mic...	ORPHA:1225
Trisomy 18P	Intrauterine growth retardation, Micrognathia, Hypotelorism, Abnormal finger morphology, Short st...	ORPHA:1715
Fountain Syndrome	Facial edema, Craniofacial hyperostosis, Short distal phalanx of finger, Coarse metaphyseal trabe...	ORPHA:3219
Multiple Pterygium-Malignant Hyperthermia Syndrome	Severe short stature, Ulnar deviation of finger, Proptosis, Finger syndactyly, Abnormal mandible ...	ORPHA:2215
Giacheti Syndrome	Hypotelorism	OMIM:612917
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Proptosis, Malar flattening, Abnormal metacarpal morphology, Hydroceph...	ORPHA:93262
Fibular Hemimelia	Toe syndactyly, Short tibia, Finger syndactyly, Fibular aplasia, Genu valgum, Talipes equinovarus...	ORPHA:93323
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Intrauterine growth retardation, Single transverse palmar crease, Hypotelorism, Birth length less...	OMIM:618622
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Prominent fingertip pads, Micrognathia, Hypotelorism, Mitral valve prolapse, Arachnodactyly, Atri...	OMIM:300986
Triploidy	Finger syndactyly, Intrauterine growth retardation, Micrognathia, Hydrocephalus, Abnormal cardiac...	ORPHA:3376
Non-Distal Duplication 13Q	Arachnodactyly, Micrognathia, Hypotelorism, Postaxial hand polydactyly	ORPHA:1702
Meckel Syndrome, Type 1	Postaxial foot polydactyly, Occipital encephalocele, Natal tooth, Clinodactyly, Large placenta, M...	OMIM:249000
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Retrognathia, Preaxial polydactyly, Intrauterine growth retardation, Micrognathia, Overlapping to...	OMIM:618142
Mosaic Variegated Aneuploidy Syndrome 2	Rhizomelia, Clinodactyly, Intrauterine growth retardation, Micrognathia, Hypotelorism, Ventricula...	OMIM:614114
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Broad thumb, Proptosis, Finger syndactyly, Preaxial hand polydactyly, Encephalocele, Exencephaly,...	ORPHA:2211
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Hydranencephaly, Camptodactyly of finger, Micrognathia,...	ORPHA:2839
Pfeiffer Syndrome	Hypoplasia of the maxilla, Broad thumb, Shortening of all middle phalanges of the fingers, Finger...	OMIM:101600
Bardet-Biedl Syndrome 5	Syndactyly, Brachydactyly, Polydactyly	OMIM:615983
Holoprosencephaly	Spinal dysraphism, Hypoplasia of the zygomatic bone, Tetralogy of Fallot, Branchial anomaly, Ence...	ORPHA:2162
Meckel Syndrome, Type 3	Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Hydrocephalus, Postaxial hand p...	OMIM:607361
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Proptosis, Malar flattening, Hydrocephalus, Hypertelorism, Short statu...	OMIM:109120
Biemond Syndrome Type 2	Short stature, Delayed puberty, Hydrocephalus, Preaxial polydactyly	ORPHA:141333
Non-Syndromic Metopic Craniosynostosis	Hypotelorism	ORPHA:3366
Congenital Disorder Of Glycosylation, Type Iu	Micrognathia, Hypotelorism	OMIM:615042
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Nasofrontal encephalocele, Meningocele, Abnormal ethmo...	ORPHA:101030
Santos Syndrome	Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi...	OMIM:613005
Pancreatic Agenesis-Holoprosencephaly Syndrome	Semilobar holoprosencephaly, Hypoplasia of the zygomatic bone, Intrauterine growth retardation, H...	ORPHA:556955
Microform Holoprosencephaly	Tetralogy of Fallot, Intrauterine growth retardation, Hypotelorism, Short stature, Cyclopia, Holo...	ORPHA:280200
Chromosome 13Q14 Deletion Syndrome	Umbilical hernia, Overlapping toe, Micrognathia, Patent foramen ovale, Ventricular septal defect,...	OMIM:613884
Aarskog-Scott Syndrome	Hypoplasia of the maxilla, Small hand, Delayed eruption of teeth, Finger syndactyly, Umbilical he...	ORPHA:915
Blepharocheilodontic Syndrome 1	Cutaneous syndactyly, Clinodactyly, Neural tube defect, Hypertelorism	OMIM:119580
Temtamy Preaxial Brachydactyly Syndrome	Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Complete duplication o...	ORPHA:363417
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Abnormality of carpal bone ossification, Hypoplasia of the maxilla, Slender long bones with narro...	OMIM:608154
Schilbach-Rott Syndrome	2-3 toe cutaneous syndactyly, Clinodactyly, Micrognathia, Hypotelorism, Short stature, 3-4 finger...	OMIM:164220
Meckel Syndrome 14	Microretrognathia, Occipital encephalocele, Retrognathia, Postaxial foot polydactyly, Oligohydram...	OMIM:619879
Ritscher-Schinzel Syndrome 4	Proptosis, Hypotelorism, Deeply set eye, Narrow palm, Ulnar deviation of the hand, Hypertelorism,...	OMIM:619435
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Keipert Syndrome	Short distal phalanx of finger, Hypoplasia of the maxilla, Broad thumb, Broad distal phalanx of f...	ORPHA:2662
Premature Aging Syndrome, Penttinen Type	Short distal phalanx of finger, Hypoplasia of the maxilla, Proptosis, Delayed eruption of teeth, ...	OMIM:601812
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Toe syndactyly, Camptodactyly of finger, Intrauterine growth retardation, Bila...	ORPHA:261211
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Micrognathia, Hypotelorism, Ventricular septal defect, Brachydacty...	OMIM:619123
Prader-Willi Syndrome Due To Translocation	Small hand, Carious teeth, Clinodactyly, Overlapping toe, Micrognathia, Deeply set eye, Hypertelo...	ORPHA:177907
Solitary Median Maxillary Central Incisor	Short stature, Cyclopia, Holoprosencephaly, Hypotelorism	OMIM:147250
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Absent ra...	ORPHA:2378
Meckel Syndrome, Type 10	Postaxial foot polydactyly, Occipital encephalocele, Postaxial polydactyly, Ulnar deviation of th...	OMIM:614175
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ...	ORPHA:90652
Multicentric Carpotarsal Osteolysis Syndrome	Hypoplasia of the maxilla, Proptosis, Wrist swelling, Carpal osteolysis, Metacarpal osteolysis, B...	OMIM:166300
20P12.3 Microdeletion Syndrome	Hypoplasia of the maxilla, Broad thumb, Malar flattening, Atrial septal defect, Hypertelorism, Sh...	ORPHA:261295
Schisis Association	Micromelia, Anencephaly, Encephalocele, Spina bifida	ORPHA:63862
Joubert Syndrome 14	Encephalocele, Malar flattening, Ventricular septal defect, Deeply set eye, Postaxial polydactyly...	OMIM:614424
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Syringomyelia, Hydrocephalus, Spina bifida	OMIM:207950
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, Clinodactyly, Camptodactyly of finger, Deeply set eye, Talipes equinov...	ORPHA:85279
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Small hand, Semilobar holoprosencephaly, Retrognathia, Clinodactyly, Broad hallux, Intrauterine g...	OMIM:301044
Amyotrophy, Hereditary Neuralgic	Short stature, Hypotelorism, Deeply set eye	OMIM:162100
Orofaciodigital Syndrome Vi	Hypoplastic left heart, Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand p...	OMIM:277170
Caudal Duplication	Myelomeningocele, Spinal cord lesion, Spina bifida	ORPHA:1756
Pelger-Huet Anomaly	Short 3rd metacarpal, Umbilical hernia, Upper limb undergrowth, Short 5th metacarpal, Ventricular...	OMIM:169400
Autosomal Recessive Distal Osteolysis Syndrome	Short stature, Short distal phalanx of finger, Hypoplasia of the maxilla, Proptosis	ORPHA:2776
Anophthalmia Plus Syndrome	Deviation of finger, Spina bifida, Hypertelorism	ORPHA:1104
Dislocation Of The Hip-Dysmorphism Syndrome	Congenital hip dislocation, Deviation of finger, Abnormal tricuspid valve morphology, Malar flatt...	ORPHA:2412
Harrod Syndrome	Abnormal pelvic girdle bone morphology, Dental malocclusion, Abnormal shoulder morphology, Intrau...	ORPHA:2115
Silver-Russell Syndrome Due To A Point Mutation	Short 5th finger, Ectrodactyly, Small placenta, Postnatal growth retardation, Intrauterine growth...	ORPHA:397590
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Spina bifida, Ventricular septal defect	ORPHA:2345
Chromosome 5P13 Duplication Syndrome	Proptosis, Hypotelorism, Single transverse palmar crease, Long fingers, Large hands, Hypertelorism	OMIM:613174
Axenfeld-Rieger Syndrome, Type 2	Hypoplasia of the maxilla, Umbilical hernia, Abnormal heart morphology, Hydrocephalus, Hypertelor...	OMIM:601499
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Tetralogy of Fallot, Hypotelorism, Foot polydactyly, Aplasia/Hypoplasia of the thumb, Overriding ...	ORPHA:3186
Maternal Phenylketonuria	Hypoplastic left heart, Clinodactyly, Tetralogy of Fallot, Abnormal heart morphology, Intrauterin...	ORPHA:2209
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Hydrocephalus	OMIM:618302
Isolated Hemihyperplasia	Myelomeningocele	ORPHA:2128
Frontorhiny	Cranium bifidum occultum, Hypoplasia of the maxilla, Finger clinodactyly, Camptodactyly of finger...	ORPHA:391474
Glutathionuria	Hypotelorism	OMIM:231950
Intellectual Developmental Disorder, Autosomal Dominant 72	Broad palm, Spina bifida, Deeply set eye	OMIM:620439
Orofaciodigital Syndrome Xvii	Retrognathia, Clinodactyly, Tetralogy of Fallot, Short middle phalanx of the 2nd finger, Partial ...	OMIM:617926
Fanconi Anemia, Complementation Group D2	Aplasia of the 1st metacarpal, Absent thumb, Short thumb, Preaxial hand polydactyly, Abnormal hea...	OMIM:227646
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Hypotelorism	OMIM:616281
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Broad thumb, Finger syndactyly, Bilateral single transverse palmar cre...	ORPHA:794
Developmental Delay With Or Without Dysmorphic Facies And Autism	2-3 toe cutaneous syndactyly, Umbilical hernia, Micrognathia, Patent foramen ovale, Ventricular s...	OMIM:618454
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Acrodysostosis	Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Hype...	ORPHA:950
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Flared metaphysis, Short 5th metacarpal, Short middle phalanx of the 2...	OMIM:156510
Craniorachischisis	Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly	ORPHA:63260
Holoprosencephaly 7	Hypoplasia of the premaxilla, Alobar holoprosencephaly, Semilobar holoprosencephaly, Hypotelorism...	OMIM:610828
Congenital Disorder Of Glycosylation, Type Iif	Clinodactyly, Hypotelorism, Deeply set eye	OMIM:603585
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hypotelorism	OMIM:618718
Microcephalic Primordial Dwarfism, Dauber Type	Hypotelorism, Madelung deformity, Severe postnatal growth retardation, Limb undergrowth, Severe i...	ORPHA:319675
Sirenomelia	Aplasia/Hypoplasia of the radius, Sirenomelia, Spina bifida	ORPHA:3169
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Semilobar holoprosencephaly, Hypoplasia of the zygomatic bone, Intrauterine growth retardation, H...	OMIM:618500
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Hypotelorism	ORPHA:477673
Trichothiodystrophy 8, Nonphotosensitive	Retrognathia, Hypotelorism	OMIM:619691
Acrodysostosis 1 With Or Without Hormone Resistance	Long hallux, Hypertelorism, Dislocated radial head, Cone-shaped epiphyses of the phalanges of the...	OMIM:101800
Hartsfield Syndrome	Hypoplasia of the frontal bone, Alobar holoprosencephaly, Semilobar holoprosencephaly, Ectrodacty...	OMIM:615465
Developmental Delay, Language Impairment, And Ocular Abnormalities	Myelomeningocele, Contracture of the proximal interphalangeal joint of the 5th finger, Short stat...	OMIM:620141
Phaver Syndrome	Ulnar deviation of finger, Broad thumb, Short thumb, Camptodactyly of finger, Myelomeningocele, I...	ORPHA:2876
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Holoprosencephaly 3	Proptosis, Malar flattening, Hypotelorism, Cyclopia, Holoprosencephaly	OMIM:142945
Intellectual Developmental Disorder, Autosomal Dominant 70	Hypoplasia of the maxilla, Retrognathia, Micrognathia, Malar flattening, Hydrocephalus, Hypertelo...	OMIM:620157
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Clinodactyly, Lymphedema, Genu valgum, Malar flattening, Polydactyly, Flatt...	OMIM:607131
Holoprosencephaly 9	Hypoplasia of the premaxilla, Alobar holoprosencephaly, Hypoplasia of the maxilla, Dental maloccl...	OMIM:610829
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Mi...	OMIM:259600
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Trichothiodystrophy 3, Photosensitive	Carious teeth, Natal tooth, Intrauterine growth retardation, Hypotelorism, Short stature	OMIM:616395
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Dural ectasia, Proptosis, Umbilical hernia, Micrognathia, Malar flatte...	ORPHA:2789
Holoprosencephaly 4	Semilobar holoprosencephaly, Hypotelorism	OMIM:142946
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Congenital hip dislocation, Micrognathia, Clinodactyly of the 5th finger, Hypotelorism, Atrial se...	OMIM:619512
Limb Body Wall Complex	Cutaneous finger syndactyly, Encephalocele, Aplasia/hypoplasia involving bones of the upper limbs...	ORPHA:2369
Joubert Syndrome 7	Postaxial polydactyly, Genu valgum, Encephalocele, Postaxial hand polydactyly	OMIM:611560
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
15Q24 Microdeletion Syndrome	Small hand, Clinodactyly, Myelomeningocele, Postnatal growth retardation, Abnormal heart morpholo...	ORPHA:94065
Microphthalmia With Limb Anomalies	Hypoplasia of the premaxilla, Toe syndactyly, Postaxial foot polydactyly, Elbow dislocation, Syno...	ORPHA:1106
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Trichothiodystrophy	Carious teeth, Retrognathia, Cardiomyopathy, Umbilical hernia, Intrauterine growth retardation, H...	ORPHA:33364
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hand muscle weakness, Triceps weakness, Abnormality of the hand, Abnormal spinal cord morphology,...	ORPHA:99947
Cerebrocostomandibular Syndrome	Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Micrognathia, Ventricular sep...	ORPHA:1393
Bardet-Biedl Syndrome 19	Hypoplastic left heart, Postaxial foot polydactyly, Mesoaxial hand polydactyly, Partial atriovent...	OMIM:615996
Ring Chromosome 7 Syndrome	Short 5th finger, Slender finger, Small hand, 3-4 toe syndactyly, Genu valgum, Situs inversus tot...	ORPHA:1449
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Ulnar deviation of finger, Camptodactyly of finger, Abnormality of the...	ORPHA:1529
Koolen-De Vries Syndrome	Slender finger, Hip dislocation, Prominent fingertip pads, Intrauterine growth retardation, Hypot...	OMIM:610443
Orofaciodigital Syndrome Xviii	Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ...	OMIM:617927
Atelosteogenesis, Type Iii	Hypoplasia of the maxilla, Rhizomelia, Tombstone-shaped proximal phalanges, Radial bowing, Elbow ...	OMIM:108721
Iniencephaly	Rhizomelia, Spinal dysraphism, Rocker bottom foot, Myelomeningocele, Encephalocele, Syringomyelia...	ORPHA:63259
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Preaxial polydactyly, Micrognathia, Ulnar bowing, Single transverse pa...	OMIM:617866
Lateral Meningocele Syndrome	Dural ectasia, Tethered cord, Umbilical hernia, Micrognathia, Malar flattening, Ventricular septa...	OMIM:130720
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Large placenta, Micrognathia, Neonatal death, Diaphyse...	OMIM:215140
10Q22.3Q23.3 Microdeletion Syndrome	Microretrognathia, Atrioventricular canal defect, Hypotelorism, Arachnodactyly, Tricuspid valve p...	ORPHA:276413
Lowry-Maclean Syndrome	Hypoplasia of the maxilla, Proptosis, Retrognathia, Atrioventricular canal defect, Intrauterine g...	ORPHA:2409
Diaphanospondylodysostosis	Myelomeningocele, Narrow pelvis bone	ORPHA:66637
Isolated Posterior Meningocele	Hydromyelia, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Tethered co...	ORPHA:268810
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Oligohydramnios, Single transverse palmar crease, Hypotelorism	OMIM:619053
Phocomelia, Schinzel Type	Finger aplasia, Disproportionate short stature, Radial bowing, Micromelia, Aplasia/Hypoplasia inv...	ORPHA:2879
Trigonocephaly 1	Hypotelorism	OMIM:190440
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Small hand, Hip dislocation, Hypotelorism, Postaxial polydactyly, Atrial septal defect, Hip dyspl...	OMIM:300968
Craniosynostosis 2	Triphalangeal thumb, Supernumerary tooth, Brachydactyly, Hypotelorism	OMIM:604757
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Severe short stature, Microretrognathia, Proptosis, Retrognathia, Camptodactyly of finger, Intrau...	ORPHA:468631
Polydactyly, Postaxial, Type A8	Short stature, Genu valgum, Postaxial polydactyly	OMIM:618123
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hypoplasia of the maxilla, Cone-shaped epiphyses of the 3rd toe, Hallux valgus, Cone-shaped epiph...	ORPHA:397973
Basal Cell Nevus Syndrome 1	Palmar pits, Short distal phalanx of the thumb, Cardiac rhabdomyoma, Cardiac fibroma, Polydactyly...	OMIM:109400
Chromosome 3Pter-P25 Deletion Syndrome	Retrognathia, Atrioventricular canal defect, Postnatal growth retardation, Intrauterine growth re...	OMIM:613792
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Polyhydramnios, Micrognathia, Dental malocclusion, Hypotelorism	ORPHA:329178
Andersen Cardiodysrhythmic Periodic Paralysis	Small hand, Toe syndactyly, Micrognathia, Hypertelorism, Short foot, Short metacarpal, Hypoplasia...	OMIM:170390
Short Stature, Microcephaly, And Endocrine Dysfunction	Dilated cardiomyopathy, Disproportionate short-limb short stature, Clinodactyly, Intrauterine gro...	OMIM:616541
Trisomy 18	Microretrognathia, Growth delay, Deviation of finger, Narrow pelvis bone, Camptodactyly of finger...	ORPHA:3380
Fliedner-Zweier Syndrome	Ventricular septal defect, Bicuspid aortic valve, Hallux valgus, Meningocele, Tethered cord	OMIM:620511
Vici Syndrome	Short stature, Hypotelorism, Cardiomyopathy, Hypertelorism	ORPHA:1493
Coffin-Siris Syndrome 1	Postnatal growth retardation, Ventricular septal defect, Aplasia/Hypoplasia of the patella, Atria...	OMIM:135900
Orofaciodigital Syndrome Viii	Short tibia, Polydactyly, Hypertelorism, Short stature, Syndactyly	OMIM:300484
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Hypotelorism	OMIM:615760
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Sandal gap, Cone-shaped epip...	OMIM:617102
Wildervanck Syndrome	Meningocele	ORPHA:3456
Congenital Disorder Of Glycosylation, Type Iil	Retrognathia, Intrauterine growth retardation, Ventricular septal defect, Postaxial polydactyly, ...	OMIM:614576
Crouzon Syndrome	Hypoplasia of the maxilla, Proptosis, Hydrocephalus, Hypertelorism	ORPHA:207
Shprintzen-Goldberg Craniosynostosis Syndrome	Hypoplasia of the maxilla, Joint contracture of the hand, Proptosis, Dental malocclusion, Umbilic...	OMIM:182212
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Umbilical hernia, Camptodactyly of finger, Intrauterine growth retardation, Sh...	ORPHA:2311
Gorlin-Chaudhry-Moss Syndrome	Short distal phalanx of finger, Hypoplasia of the maxilla, Umbilical hernia, Abnormal metacarpal ...	ORPHA:2095
Shprintzen-Goldberg Syndrome	Hypoplasia of the maxilla, Proptosis, Retrognathia, Elbow dislocation, Umbilical hernia, Camptoda...	ORPHA:2462
Neu-Laxova Syndrome 1	Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Ven...	OMIM:256520
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Abnormal epiphysis morphology, Proptosis, Abnormal vertebral epiphysis...	ORPHA:90653
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Microcephaly-Capillary Malformation Syndrome	Short distal phalanx of finger, Hypoplasia of the maxilla, Clinodactyly, Patent foramen ovale, Ve...	OMIM:614261
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Hypoplastic left heart, Broad thumb, Prominent fingertip pads, Genu valgum, Arachnodactyly, Bicus...	OMIM:619721
Pallister-Hall Syndrome	Toe syndactyly, Natal tooth, Postaxial foot polydactyly, Distal shortening of limbs, Ventricular ...	OMIM:146510
Houge-Janssens Syndrome 2	Broad hallux, Deviation of the 5th finger, Postaxial polydactyly, Hydrocephalus, Hypertelorism, H...	OMIM:616362
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Intrauterine growth retardation, Hypoplastic ischia, Hypertelorism	OMIM:616910
Kyphoscoliotic Ehlers-Danlos Syndrome	Congenital hip dislocation, Umbilical hernia, Micrognathia, Hypotelorism, Arachnodactyly, Bicuspi...	ORPHA:536545
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Finger joint hypermobility, Hypotelorism	OMIM:244200
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal dental pulp morphology, Abnormal heart morphology, Hypertrophic cardiomyopathy, Abnormal...	ORPHA:363700
Bardet-Biedl Syndrome 16	Short stature, Polydactyly	OMIM:615993
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Hypoplastic facial bones, Rhizomelia, Microretrognathia, Natal tooth, Short tibia, Preaxial polyd...	OMIM:616300
Sacral Defect With Anterior Meningocele	Hydromyelia, Tethered cord, Myelomeningocele, Myeloschisis, Hydrocephalus, Bilateral talipes equi...	OMIM:600145
Semilobar Holoprosencephaly	Abnormal heart morphology, Hypotelorism, Hydrocephalus, Short stature, Cyclopia, Growth delay, Hi...	ORPHA:220386
Alobar Holoprosencephaly	Abnormal heart morphology, Hypotelorism, Hydrocephalus, Short stature, Cyclopia, Growth delay, Hi...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormal heart morphology, Hypotelorism, Hydrocephalus, Short stature, Cyclopia, Growth delay, Hi...	ORPHA:93926
Lobar Holoprosencephaly	Abnormal heart morphology, Hypotelorism, Hydrocephalus, Short stature, Cyclopia, Growth delay, Hi...	ORPHA:93924
Solitary Bone Cyst	Abnormal ilium morphology, Abnormal tibia morphology, Lytic defects of the radius, Abnormality of...	ORPHA:83468
Duane-Radial Ray Syndrome	Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Absent...	OMIM:607323
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Double outlet right ventricle, Atrial septal defect, Hydrocephalus,...	OMIM:614886
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Polydactyly, Hydrocephalus, Hypertelorism, Short phalanx of...	ORPHA:59315
Isolated Sedoheptulokinase Deficiency	Abnormality of globe location, Hypotelorism, Severe postnatal growth retardation, Shallow orbits,...	ORPHA:440713
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Encephalocele, T...	ORPHA:1827
Enlarged Parietal Foramina	Myelomeningocele, Broad thumb, Occipital encephalocele, Short clavicles	ORPHA:60015
Chromosome 17P13.1 Deletion Syndrome	Broad hallux, Umbilical hernia, Elbow flexion contracture, Long hallux, Oligohydramnios, Arachnod...	OMIM:613776
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han...	OMIM:258860
Orofaciodigital Syndrome I	Carious teeth, Microretrognathia, Clinodactyly, Radial deviation of finger, Myelomeningocele, Abn...	OMIM:311200
Alg3-Cdg	Metaphyseal chondrodysplasia, Cardiomyopathy, Abnormal limb bone morphology, Neural tube defect	ORPHA:79321
Suleiman-El-Hattab Syndrome	Microretrognathia, Clinodactyly, Patent foramen ovale, Ventricular septal defect, Polydactyly, Si...	OMIM:618950
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Micromelia, Preaxial polydactyly, Occipital meningocele, Postaxial polydactyly...	OMIM:616546
Otopalatodigital Syndrome, Type Ii	Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Postnatal growth retardation, Ove...	OMIM:304120
Marbach-Schaaf Neurodevelopmental Syndrome	Brachydactyly, Hypotelorism, Tapered finger	OMIM:619680
Cohen Syndrome	Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Micrognathia, Genu...	OMIM:216550
Joubert Syndrome 39	Hypoplastic left heart, Postaxial polydactyly, Occipital encephalocele, Joint contracture of the ...	OMIM:619562
Cardioacrofacial Dysplasia 1	Hypoplasia of the maxilla, Atrioventricular canal defect, Genu valgum, Complete atrioventricular ...	OMIM:619142
Congenital Sialidosis Type 2	Umbilical hernia, Abnormal heart morphology, Ascites, Polydactyly, Hydrocephalus, Edema	ORPHA:93400
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Clinodactyly, Micrognathia, Deeply set eye, Talipes equinovarus, Large hands, Hypert...	OMIM:264090
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Finger clino...	ORPHA:306542
Vacterl With Hydrocephalus	Retrognathia, Intrauterine growth retardation, Micrognathia, Hydrocephalus, Spina bifida, Hypopla...	ORPHA:3412
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Intrauterine growth retardation, Micrognathia, Patent foramen ovale, Ventricular septal defect, D...	OMIM:616975
Split-Hand/Foot Malformation 3	Camptodactyly, Hypoplasia of the maxilla, Microretrognathia, Split hand	OMIM:246560
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Hyp...	OMIM:257850
Pycnodysostosis	Rhizomelia, Carious teeth, Proptosis, Disproportionate short-limb short stature, Hypoplasia of th...	ORPHA:763
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Broad phalanx, Hypertelorism, Short ...	OMIM:166250
Cranioectodermal Dysplasia 1	Short distal phalanx of finger, Rhizomelia, Clinodactyly, Short toe, Radial deviation of finger, ...	OMIM:218330
Bardet-Biedl Syndrome 4	Syndactyly, Brachydactyly, Polydactyly	OMIM:615982
Distal Xq28 Microduplication Syndrome	Predominantly lower limb lymphedema, Hypoplasia of the maxilla, Clinodactyly, Upper eyelid edema,...	ORPHA:293939
Intellectual Developmental Disorder, Autosomal Dominant 53	Genu valgum, Hypotelorism, Ventricular septal defect, Growth delay, Short femur	OMIM:617798
Lujan-Fryns Syndrome	Hypoplasia of the maxilla, Camptodactyly of finger, Micrognathia, Arachnodactyly, Brachydactyly, ...	ORPHA:776
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Broad thumb, Overlapping toe, Micrognathia, Deeply set eye, Bicuspid aortic valve, Atrial septal ...	OMIM:612474
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Mandibular prognathia, Hypotelorism, Deeply set eye	OMIM:300486
Marshall-Smith Syndrome	Ventricular septal defect, Prominence of the premaxilla, Bullet-shaped middle phalanges of the ha...	OMIM:602535
Dental Anomalies And Short Stature	Hypoplasia of the maxilla, Mitral valve prolapse, Amelogenesis imperfecta, Short stature, Mandibu...	OMIM:601216
Tarp Syndrome	Clinodactyly, Tetralogy of Fallot, Intrauterine growth retardation, Oligohydramnios, Micrognathia...	OMIM:311900
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Retrognathia, Short toe, Oli...	ORPHA:2756
Lig4 Syndrome	Clinodactyly of the 5th finger, Chronic sinusitis, Hypotelorism	OMIM:606593
Dysostosis, Stanescu Type	Hypoplasia of the maxilla, Carious teeth, Proptosis, Hypoplasia of the zygomatic bone, Massively ...	ORPHA:1798
Aarskog-Scott Syndrome	Short 5th finger, Hypoplasia of the maxilla, Clinodactyly, Radial deviation of finger, Hyperexten...	OMIM:305400
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Postnatal growth retardation, Polydactyly, Short stature, Clinodactyly of the 5th finger, Upper l...	ORPHA:231140
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Hypoplasia of the maxilla, Short distal phalanx of finger, Pseudoepiph...	ORPHA:192
Nail-Patella Syndrome	Triceps aplasia, Elongated radius, Patellar hypoplasia, Hypoplastic radial head, Biceps aplasia, ...	OMIM:161200
Neurocutaneous Melanocytosis	Syringomyelia, Meningocele	ORPHA:2481
Amish Lethal Microcephaly	Micrognathia, Spina bifida	ORPHA:99742
Conotruncal Heart Malformations	Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ...	OMIM:217095
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Shortening of all phalanges...	OMIM:114290
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Postnatal growth retardation, Hypoplastic i...	ORPHA:96334
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Umbilical hernia, Hypotelorism, Talipes equinovarus, Polyhydramnios, Patent ductus arteriosus	OMIM:614557
Vater/Vacterl Association	Occipital encephalocele, Tethered cord, Short thumb, Preaxial polydactyly, Tetralogy of Fallot, P...	OMIM:192350
Coffin-Siris Syndrome 12	Slender finger, Broad thumb, Short thumb, Tetralogy of Fallot, Micrognathia, Patent foramen ovale...	OMIM:619325
Rubinstein-Taybi Syndrome 1	Broad thumb, Postnatal growth retardation, Hypoplastic iliac wing, Micrognathia, Mitral valve pro...	OMIM:180849
Waardenburg Syndrome Type 1	Meningocele, Mandibular prognathia, Spina bifida	ORPHA:894
Crouzon Syndrome	Hypoplasia of the maxilla, Proptosis, Shallow orbits, Hydrocephalus, Hypertelorism, Mandibular pr...	OMIM:123500
Distal Limb Deficiencies-Micrognathia Syndrome	Hypoplasia of the maxilla, Microretrognathia, Aplasia/Hypoplasia of the radius, Oligodactyly, Abn...	ORPHA:1307
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Short stature, Micrognathia, Growth delay, Hypotelorism	ORPHA:502423
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Cone-shaped epiphysis, Occipital encephalocele, Rhizomelic arm shortening, Micrognathia, Rhizomel...	ORPHA:397715
Apert Syndrome	Hypoplasia of the maxilla, Toe syndactyly, Proptosis, Delayed eruption of teeth, Finger syndactyl...	ORPHA:87
Focal Dermal Hypoplasia	Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Abnormal epiphysis morph...	ORPHA:2092
Acropectoral Syndrome	Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly	OMIM:605967
Saul-Wilson Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Proptosis, Overtubulated long...	OMIM:618150
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Overlapping toe, Micrognathia, Ventricular septal defect, Bicuspid aortic valve, Bro...	ORPHA:508498
Curry-Jones Syndrome	Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot polydactyly, Duplicatio...	OMIM:601707
Bardet-Biedl Syndrome 17	Postaxial foot polydactyly, Mesoaxial hand polydactyly, Situs inversus totalis, Polydactyly, Brac...	OMIM:615994
Trisomy 8Q	Camptodactyly of finger, Myelomeningocele, Micrognathia, Deep palmar crease, Brachydactyly, Hyper...	ORPHA:1752
Distal Deletion 19P	Hypoplasia of the maxilla, Umbilical hernia, Ventricular septal defect, Arachnodactyly, Tricuspid...	ORPHA:96129
Cutis Laxa, Autosomal Recessive, Type Ib	Proptosis, Retrognathia, Oligohydramnios, Micrognathia, Neonatal death, Prominence of the premaxi...	OMIM:614437
3P25.3 Microdeletion Syndrome	Acromesomelia, Broad thumb, Broad hallux, Overlapping toe, Micrognathia, Ventricular septal defec...	ORPHA:435638
Holoprosencephaly 2	Alobar holoprosencephaly, Semilobar holoprosencephaly, Proptosis, Malar flattening, Hypotelorism,...	OMIM:157170
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele, Hip dislocation	ORPHA:2003
Cohen Syndrome	Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Finger syndactyly, Sandal gap, Intra...	ORPHA:193
20P13 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Polydactyly, Deeply set eye, Brachydactyly, Hypertelorism	ORPHA:313781
Degcags Syndrome	Toe syndactyly, Micrognathia, Genu valgum, Ventricular septal defect, Talipes equinovarus, Atrial...	OMIM:619488
Maxillonasal Dysplasia	Short distal phalanx of finger, Hypoplasia of the maxilla, Mandibular prognathia, Aplasia/Hypopla...	ORPHA:1248
Martsolf Syndrome 1	Hypoplasia of the maxilla, Broad femoral neck, Short toe, Cardiomyopathy, Slender ulna, Avascular...	OMIM:212720
Culler-Jones Syndrome	Short stature, Postaxial polydactyly, Hypotelorism	OMIM:615849
Larsen Syndrome	Elbow dislocation, Accessory carpal bones, Intrauterine growth retardation, Malar flattening, Ven...	OMIM:150250
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, 2-3 toe syndactyly, Long fingers, Hypertelorism, Tapered finger	OMIM:218000
Neu-Laxova Syndrome	Proptosis, Retrognathia, Micromelia, Intrauterine growth retardation, Micrognathia, Spina bifida,...	ORPHA:2671
Multiple Osteochondromas	Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Bowing of the long bones, Abnor...	ORPHA:321
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Hypoplasia of the maxilla, Broad phalanges of the hand, Umbilical hernia, ...	OMIM:608328
Combined Oxidative Phosphorylation Deficiency 55	Single transverse palmar crease, Hypotelorism, Talipes equinovarus, Short stature, Genu varum	OMIM:619743
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Holoprosencephaly 1	Alobar holoprosencephaly, Hypotelorism, Ethmocephaly, Single ventricle, Short stature, Cyclopia	OMIM:236100
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short stature, Clinodactyly of the 5th finger, Meningocele	ORPHA:2031
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Ascites, Polydactyly, Bowing of...	OMIM:614091
Bardet-Biedl Syndrome 9	Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol...	OMIM:615986
X-Linked Intellectual Disability, Sutherland-Haan Type	Short stature, Hypoplasia of the maxilla, Mandibular prognathia	ORPHA:93950
Mandibulofacial Dysostosis-Microcephaly Syndrome	Hypoplasia of the maxilla, Preaxial hand polydactyly, Micrognathia, Malar flattening, Atrial sept...	ORPHA:79113
Scalp-Ear-Nipple Syndrome	Broad thumb, Finger syndactyly, Clinodactyly of the 5th finger, Hypotelorism, 2-3 toe syndactyly,...	OMIM:181270
Pseudoaminopterin Syndrome	Slender finger, Proptosis, Synostosis of carpal bones, Short thumb, Overlapping toe, Micrognathia...	ORPHA:221120
Retinal Dystrophy With Leukodystrophy	Hypotelorism	OMIM:618863
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Micrognathia, Atrial septal def...	ORPHA:84
Polydactyly, Preaxial Iii	Triphalangeal thumb, Preaxial polydactyly	OMIM:174600
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Small hand, Clinodactyly, Overlapping toe, Micrognathia, Hypotelorism, Deeply set eye, Camptodact...	OMIM:309590
Stormorken Syndrome	Short stature, Hypotelorism, Deeply set eye	OMIM:185070
Trisomy 20P	Finger syndactyly, Umbilical hernia, Preaxial hand polydactyly, Camptodactyly of finger, Abnormal...	ORPHA:261318
Kagami-Ogata Syndrome	Hypoplasia of the maxilla, Retrognathia, Micrognathia, Ventricular septal defect, Coxa valga, Lim...	OMIM:608149
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly, Atrial septal defect, Hydrocephalus, Ventricular septal defect	OMIM:603387
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Tetralogy of Fallot, Limited ...	OMIM:147750
Vici Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Postnatal growth retardation, Micrognathia, Hypotelorism,...	OMIM:242840
9Q21.13 Microdeletion Syndrome	Abnormal heart morphology, Postnatal growth retardation, Polydactyly, Syringomyelia, Hip dysplasia	ORPHA:531151
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Encephalocele, Humeroradial synostosis, Ventricular septal defect, ...	OMIM:134780
Intellectual Developmental Disorder, Autosomal Dominant 23	Postaxial polydactyly, Broad distal phalanx of finger, Micrognathia, Sandal gap	OMIM:615761
Malan Syndrome	Retrognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Long fingers, Mandibular...	OMIM:614753
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Situs inversus totalis, Hydrocephalus, Dextrocardia, Short stature, Spina bifid...	OMIM:613686
Brachytelephalangic Chondrodysplasia Punctata	Short distal phalanx of finger, Hypoplasia of the maxilla, Hypoplasia of the anterior nasal spine...	ORPHA:79345
Synpolydactyly 2	Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Proptosis, Micromelia, Ventricular septal defect, Postaxial polydactyly, Brachy...	OMIM:617895
Galloway-Mowat Syndrome 9	Hypotelorism, Hypertelorism	OMIM:619603
7Q31 Microdeletion Syndrome	Hypoplasia of the maxilla, Clinodactyly of the 2nd finger, Prominent fingertip pads, Postnatal gr...	ORPHA:251061
Dyskeratosis Congenita, Autosomal Recessive 8	Intrauterine growth retardation, Hypotelorism	OMIM:620133
Myhre Syndrome	Aortic valve stenosis, Clinodactyly, Hypoplastic iliac wing, Overlapping toe, Ventricular septal ...	OMIM:139210
Ventriculomegaly With Cystic Kidney Disease	Polyhydramnios, Postaxial polydactyly, Hydrocephalus, Ventricular septal defect	OMIM:219730
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Short distal phalanx of finger, Hypoplasia of the maxilla, Micrognathia, Deeply set eye, Talipes ...	OMIM:300534
Lathosterolosis	Toe syndactyly, Postaxial foot polydactyly, Intrauterine growth retardation, Micrognathia, Postax...	ORPHA:46059
Spastic Paraplegia 16, X-Linked	Short distal phalanx of finger, Hypoplasia of the maxilla	OMIM:300266
Hermansky-Pudlak Syndrome 10	Retrognathia, Hypotelorism	OMIM:617050
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Cerebrofacioarticular Syndrome	Hypoplasia of the maxilla, Caudal appendage, Lymphedema, Abnormal heart morphology, Micrognathia,...	ORPHA:314679
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Andersen-Tawil Syndrome	Hypoplasia of the maxilla, Dilated cardiomyopathy, Small hand, Persistence of primary teeth, Micr...	ORPHA:37553
Recon Progeroid Syndrome	Growth delay, Long thumb, Prominence of the premaxilla, Deeply set eye, Arachnodactyly, Short sta...	OMIM:620370
Orofaciodigital Syndrome Type 6	Finger clinodactyly, Preaxial polydactyly, Abnormal heart morphology, Micrognathia, Hand polydact...	ORPHA:2754
Thrombocytopenia 6	Hypotelorism, Deeply set eye	OMIM:616937
Mend Syndrome	Aortic valve stenosis, Microretrognathia, Broad hallux, Overlapping toe, Micrognathia, Overlappin...	OMIM:300960
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Micrognathia, Mitral valve prolapse, Arachnodactyly, Bicuspid aort...	OMIM:610168
Waardenburg Syndrome, Type 1	Myelomeningocele, Mandibular prognathia, Spina bifida, Hypertelorism	OMIM:193500
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hypertelorism, A...	OMIM:306955
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Polyhydramnios, Postaxial polydactyly, Brachydactyly, Short long bone	OMIM:615633
Meier-Gorlin Syndrome 5	Hypoplasia of the maxilla, Elbow dislocation, Clinodactyly, Slender long bone, Hypoplasia of the ...	OMIM:613805
Jacobsen Syndrome	Aortic valve stenosis, Hypoplastic left heart, Toe clinodactyly, Toe syndactyly, Finger syndactyl...	ORPHA:2308
Nephronophthisis 15	Polydactyly	OMIM:614845
Orofaciodigital Syndrome Xi	Postaxial polydactyly	OMIM:612913
Cleidocranial Dysplasia 2	Short distal phalanx of finger, Hypoplasia of the maxilla, Broad thumb, Aplastic clavicle, Genu v...	OMIM:620099
Cerebrooculonasal Syndrome	Postnatal growth retardation, Malar flattening, Encephalocele, Postaxial polydactyly, Hydrocephal...	OMIM:605627
Au-Kline Syndrome	Dental malocclusion, Retrognathia, Overlapping toe, Syringomyelia, Postaxial polydactyly, Deep pa...	OMIM:616580
Phakomatosis Pigmentokeratotica	Hemiatrophy, Spina bifida, Lymphedema	ORPHA:2874
Van Maldergem Syndrome 1	Hypoplasia of the maxilla, Dental malocclusion, Clinodactyly, Cutaneous finger syndactyly, Microg...	OMIM:601390
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Hip contra...	OMIM:210710
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly, Deeply set eye	ORPHA:544254
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Internally rotated shoulders, Micrognathia, Hip contracture, Ventricular septal defect, Deeply se...	OMIM:619503
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Hypoplasia of the maxilla, Mandibular prognathia, Long palm	OMIM:300676
Cloacal Exstrophy	Myelomeningocele, Abnormal tibia morphology, Talipes equinovarus, Spina bifida, Abnormal fibula m...	ORPHA:93929
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Hypertelorism	OMIM:137550
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Hypoplasia of the maxilla, Broad phalanges of the hand, Broad metatarsal, ...	OMIM:277600
Geroderma Osteodysplasticum	Severe short stature, Hypoplasia of the maxilla, Femoral bowing, Malar flattening, Tibial bowing,...	OMIM:231070
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Hypoplasia of the maxilla, Ulnar deviation of finger, Umbilical hernia, Camptodactyly of finger, ...	ORPHA:1101
Van Maldergem Syndrome 2	Hypoplasia of the maxilla, Cutaneous syndactyly of toes, Dental malocclusion, Clinodactyly, Cutan...	OMIM:615546
Van Den Ende-Gupta Syndrome	Joint contracture of the hand, Hypoplastic scapulae, Long metacarpals, Long hallux, Micrognathia,...	OMIM:600920
X-Linked Intellectual Disability, Porteous Type	Short stature, Hypoplasia of the maxilla, Mandibular prognathia	ORPHA:93945
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the maxilla, Broad thumb, Broad hallux, Arachnodactyly, Hypertelorism, Hip dislocation	ORPHA:481152
Spondyloepimetaphyseal Dysplasia, X-Linked	Broad long bones, Disproportionate short-trunk short stature, Broad phalanx, Flat acetabular roof...	OMIM:300106
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Hypertelorism	OMIM:167730
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation	OMIM:264270
Bardet-Biedl Syndrome 8	Postaxial polydactyly, Situs inversus totalis	OMIM:615985
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Micrognathia, Malar flattening, Atrial septal defect, Patent ductus ar...	OMIM:241310
Nager Syndrome	Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hypoplasia of the zygomatic bone, Mi...	ORPHA:245
Mandibulofacial Dysostosis With Alopecia	Hypoplasia of the maxilla, Micrognathia, Delayed eruption of primary teeth, Bicuspid aortic valve...	OMIM:616367
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Broad distal phalanx of finger, Postaxial foot polydactyly, Abnormal heart morphology, Micrognath...	ORPHA:404440
Treacher-Collins Syndrome	Hypoplasia of the maxilla, Branchial fistula, Hypoplasia of the zygomatic bone, Retrognathia, Abn...	ORPHA:861
Retinitis Pigmentosa 89	Postaxial polydactyly, Bicuspid aortic valve	OMIM:618955
Monosomy 9Q22.3	Palmar pits, Delayed eruption of teeth, Umbilical hernia, Cardiac fibroma, Polydactyly, Hydroceph...	ORPHA:77301
Carpenter Syndrome 2	Carious teeth, Broad thumb, Cutaneous finger syndactyly, Talipes equinovarus, Atrial septal defec...	OMIM:614976
Rajab Interstitial Lung Disease With Brain Calcifications 1	Anasarca, Ascites, Intrauterine growth retardation, Oligohydramnios, Hypotelorism, Deeply set eye...	OMIM:613658
Stromme Syndrome	Preaxial polydactyly, Micrognathia, Deeply set eye, Hydrocephalus, Stillbirth, Hypertelorism	OMIM:243605
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Acetabular spurs, Femoral bowing, Polyhydramnios, Ventricular septal defect...	OMIM:615503
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Hydranencephaly	Postnatal growth retardation, Intrauterine growth retardation, Hypotelorism, Dilatation of the ve...	ORPHA:2177
Laurence-Moon Syndrome	Short stature, Abnormality of the hand, Polydactyly	OMIM:245800
Marshall Syndrome	Hypoplasia of the maxilla, Proptosis, Hypoplasia of the zygomatic bone, Micrognathia, Genu valgum...	ORPHA:560
Peters-Plus Syndrome	Square pelvis bone, Postnatal growth retardation, Micrognathia, Ventricular septal defect, Limite...	OMIM:261540
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Tethered cord, Atrioventricular canal defect, Spina bifida, Hypertelorism, Patent ductus arterios...	OMIM:619480
Williams-Beuren Syndrome	Dental malocclusion, Myxomatous mitral valve degeneration, Umbilical hernia, Coronary artery sten...	OMIM:194050
Joubert Syndrome 37	Short stature, Postaxial polydactyly, Hypertelorism, Deeply set eye	OMIM:619185
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla	OMIM:618737
Miller-Dieker Lissencephaly Syndrome	Joint contracture of the hand, Delayed eruption of teeth, Abnormal heart morphology, Intrauterine...	OMIM:247200
Meier-Gorlin Syndrome 1	Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndactyly, Microg...	OMIM:224690
Neurofibromatosis, Type I	Genu valgum, Tibial pseudarthrosis, Hydrocephalus, Spina bifida, Hypertelorism, Short stature, Aq...	OMIM:162200
Meier-Gorlin Syndrome 4	Hypoplasia of the maxilla, Slender long bone, Intrauterine growth retardation, Micrognathia, Pate...	OMIM:613804
Hallermann-Streiff Syndrome	Dental malocclusion, Natal tooth, Slender long bone, Micrognathia, Malar flattening, Proportionat...	OMIM:234100
Charge Syndrome	Bifid femur, Hypoplasia of the zygomatic bone, Delayed eruption of teeth, Umbilical hernia, Tetra...	ORPHA:138
Hyperlysinemia	Short stature, Hypotelorism	ORPHA:2203
Keratoderma Hereditarium Mutilans	Autoamputation of digits, Abnormal spinal cord morphology, Honeycomb palmoplantar hyperkeratosis	ORPHA:494
22Q11.2 Deletion Syndrome	Carious teeth, Micrognathia, Ventricular septal defect, Arachnodactyly, Talipes equinovarus, Atri...	ORPHA:567
Pagod Syndrome	Hypoplastic left heart, Situs inversus totalis, Encephalocele, Spina bifida, Short stature, Menin...	ORPHA:991
Tarp Syndrome	Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Tetralogy of Fallot, Intrauterine...	ORPHA:2886
Myhre Syndrome	Severe short stature, Craniofacial hyperostosis, Hypoplasia of the maxilla, Abnormal epiphysis mo...	ORPHA:2588
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hypoplasia of the maxilla, Broad thumb, Micrognathia, Ventricular septal defect, Arachnodactyly, ...	OMIM:309520
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Brachydactyly, Short long bone, Polydactyly	OMIM:613819
Pallister-Hall Syndrome	Toe syndactyly, Natal tooth, Broad thumb, Radial bowing, Polydactyly affecting the 4th finger, Ov...	ORPHA:672
Aicardi Syndrome	Postnatal growth retardation, Proximal placement of thumb, Spina bifida, Prominence of the premax...	OMIM:304050
Saethre-Chotzen Syndrome	Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Hypoplasia ...	OMIM:101400
Loeys-Dietz Syndrome 1	Dural ectasia, Proptosis, Retrognathia, Micrognathia, Malar flattening, Mitral valve prolapse, Ar...	OMIM:609192
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Micrognathia, Bilateral single transverse palmar creases, Abnor...	ORPHA:3310
White-Kernohan Syndrome	Retrognathia, Hypotelorism, Hip dysplasia	OMIM:619426
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Abnormal pelvic girdle bone morphology, Postnatal growth retardation, Hemiatrophy, St...	OMIM:302960
Adnp Syndrome	Broad thumb, Sandal gap, Broad hallux, Umbilical hernia, Single transverse palmar crease, Polydac...	ORPHA:404448
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,...	OMIM:613091
X-Linked Cerebral Adrenoleukodystrophy	Myelopathy, Abnormal spinal cord morphology	ORPHA:139396
Bartsocas-Papas Syndrome 1	Hypoplasia of the maxilla, Hypoplastic scapulae, Absent thumb, Short thumb, Absent radius, Hypopl...	OMIM:263650
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Carious teeth, Natal tooth, Broad thumb, Postnatal growth retardation, Mic...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Carious teeth, Natal tooth, Broad thumb, Postnatal growth retardation, Mic...	ORPHA:353277
Orofaciodigital Syndrome Xiv	Microretrognathia, Occipital encephalocele, Natal tooth, Broad hallux, Preaxial polydactyly, Micr...	OMIM:615948
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hypoplasia of the maxilla, Postnatal growth retardation, Overlapping toe, Micrognathia, Polyhydra...	OMIM:213980
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, El...	OMIM:276820
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly	OMIM:614970
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia	OMIM:601809
Meier-Gorlin Syndrome 3	Hypoplasia of the maxilla, Microretrognathia, Slender long bone, Patellar hypoplasia, Intrauterin...	OMIM:613803
Phosphoribosylpyrophosphate Synthetase Superactivity	Short stature, Hypotelorism	OMIM:300661
Joubert Syndrome 23	Polydactyly	OMIM:616490
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Postaxial polydactyly, Intrauterine growth retardation, Oligohydramnios	OMIM:615824
Acrofacial Dysostosis, Cincinnati Type	Biventricular hypertrophy, Micrognathia, Ventricular septal defect, Deeply set eye, Bicuspid aort...	OMIM:616462
8Q22.1 Microdeletion Syndrome	Sandal gap, Hypoplasia of the maxilla, Finger syndactyly, Camptodactyly of finger	ORPHA:178303
Septooptic Dysplasia	Short stature, Polydactyly, Short finger	OMIM:182230
Joubert Syndrome 27	Polydactyly	OMIM:617120
Branchioskeletogenital Syndrome	Hypoplasia of the maxilla, Carious teeth, Proptosis, Umbilical hernia, Upper limb peromelia, Blep...	ORPHA:1299
Cranioectodermal Dysplasia 2	Rhizomelia, Retrognathia, Clinodactyly, Micrognathia, Polyhydramnios, Patent foramen ovale, Polyd...	OMIM:613610
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla, Growth delay, Hypertelorism	ORPHA:782
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Microretrognathia	ORPHA:228396
Nasopalpebral Lipoma-Coloboma Syndrome	Severe postnatal growth retardation, Hypoplasia of the maxilla, Clinodactyly of the 5th finger, H...	ORPHA:2399
Nablus Mask-Like Facial Syndrome	Hypoplasia of the maxilla, Joint contracture of the hand, Retrognathia, Clinodactyly, Sandal gap,...	OMIM:608156
Mosaic Trisomy 20	Craniofacial asymmetry, Retrognathia, Clinodactyly, Intrauterine growth retardation, Micrognathia...	ORPHA:1724
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, Carious teeth, High iliac wing, Delayed eruption of teeth, Hypertelori...	ORPHA:50814

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