Gene: Cyp51 MGI:106040

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

cytochrome P450, family 51

Synonyms:

N/A

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 Cyp51 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 Cyp51 (0 diseases)
Human diseases predicted to be associated with Cyp51 (2345 diseases)

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

The table below shows human diseases predicted to be associated to Cyp51 by phenotypic similarity.

Disease	Matching phenotypes	Source
Congenital Absence Of Upper Arm And Forearm With Hand Present	Atypical scarring of skin, Abnormal heart morphology, Abnormal hip bone morphology, Polydactyly, ...	ORPHA:294975
Atelosteogenesis, Type Iii	Rhizomelia, Tombstone-shaped proximal phalanges, Hypoplasia of the maxilla, Radial bowing, Elbow ...	OMIM:108721
Leri-Weill Dyschondrosteosis	Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ...	OMIM:127300
Pierre Robin Sequence With Facial And Digital Anomalies	Short distal phalanx of finger, Frontal bossing, Micrognathia, Easily subluxated first metacarpop...	OMIM:311895
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Multiple Epiphyseal Dysplasia Type 4	Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Abnormal hand morpho...	ORPHA:93307
Heart-Hand Syndrome Type 2	Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder mor...	ORPHA:1350
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s...	ORPHA:2632
Langer Mesomelic Dysplasia	Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni...	OMIM:249700
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Clinodactyly of the 2nd finger, Genu valgum, Ventricular septal defect, Pes planus, Atrial septal...	OMIM:618870
Mesomelic Limb Shortening And Bowing	Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Micrognathia,...	OMIM:249710
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Elbow dislocat...	ORPHA:2633
Syndactyly Type 2	Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t...	ORPHA:93403
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, E...	OMIM:201250
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio...	ORPHA:93323
Mesomelia-Synostoses Syndrome	Synostosis of joints, Synostosis of carpal bones, Aplasia/Hypoplasia of the uvula, Abnormal tibia...	ORPHA:2496
Catel-Manzke Syndrome	Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Joint stiffness, Radial de...	ORPHA:1388
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Limitation of joint mobility, Abnormal joint morphology, Fibular bowing, Mi...	ORPHA:1427
Distal Deletion 17Q	Small hand, Deviation of finger, Micromelia, Aplasia/Hypoplasia of the uvula, Abnormal hip bone m...	ORPHA:1597
Shox-Related Short Stature	Genu valgum, Micrognathia, Ulnar radial head dislocation, Tibial bowing, Madelung deformity, Cubi...	ORPHA:314795
Microphthalmia With Limb Anomalies	Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, High palate, 2-5 toe syndactyly,...	OMIM:206920
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, ...	ORPHA:1423
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f...	ORPHA:2928
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes	Small hand, Clinodactyly, Long philtrum, Thin upper lip vermilion, Perianal abscess, Brachydactyl...	OMIM:614684
Beta-Mercaptolactate Cysteine Disulfiduria	Micromelia, Sandal gap, Umbilical hernia, Genu valgum, Joint hypermobility, Arachnodactyly, Atria...	ORPHA:1035
Ophthalmomandibulomelic Dysplasia	Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ...	ORPHA:2741
Synpolydactyly 1	Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial...	OMIM:186000
Liebenberg Syndrome	Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin...	OMIM:186550
Boomerang Dysplasia	Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor...	ORPHA:1263
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Hypoplastic scapulae, Micromelia, Femoral bowing, Micrognathia, Dumbbell-shaped long ...	ORPHA:440354
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania...	OMIM:268310
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morphology, Joint dislo...	ORPHA:1842
Atelosteogenesis, Type Ii	Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Micrognath...	OMIM:256050
Craniosynostosis, Herrmann-Opitz Type	Micromelia, Finger syndactyly, Micrognathia, Oligohydramnios, Malar flattening, Turricephaly, Bra...	ORPHA:2145
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Genu valgum, Micrognath...	ORPHA:56304
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Preaxial polydactyly, Intestinal malrotation, Micrognathia, Ulnar bowi...	OMIM:617866
Postaxial Oligodactyly, Tetramelic	Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-...	OMIM:176240
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Tooth agenesis, Abnormal shoulder morphology, Micrognathia, Abnormal mitral valve morphology, Abn...	ORPHA:1277
Ophthalmomandibulomelic Dysplasia	Radioulnar dislocation, Elbow dislocation, Radial bowing, Lateral humeral condyle aplasia, Decrea...	OMIM:164900
Diastrophic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Elbow dislocation, Micromelia, Short fi...	ORPHA:628
Atelosteogenesis, Type I	Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Neonatal death, Talipes, Talipes...	OMIM:108720
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Cleft soft palate, Ulnar d...	OMIM:142900
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
W Syndrome	Upper lip pit, Broad uvula, Clinodactyly, Radial bowing, Elbow dislocation, Pes cavus, Submucous ...	ORPHA:2804
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Mitral regurgi...	OMIM:271640
Craniosynostosis, Adelaide Type	Shortening of all middle phalanges of the fingers, Carpal bone malsegmentation, Hallux valgus, Co...	OMIM:600593
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic valve stenosis, Ventricular hypertrophy, Elbow dislocation, Genu valgum, Bilateral single ...	OMIM:143095
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited...	ORPHA:3269
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, High palate, Accessory oral frenulum...	OMIM:277170
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo...	OMIM:174500
Odontochondrodysplasia 1	Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac...	OMIM:184260
Chondrodysplasia, Blomstrand Type	Fetal ascites, Micromelia, Flared metaphysis, Stillbirth, Micrognathia, Malar flattening, Short r...	OMIM:215045
Greenberg Dysplasia	Rhizomelia, Micromelia, Abnormal pelvis bone ossification, Lymphedema, Calvarial skull defect, Mi...	ORPHA:1426
Metaphyseal Dysplasia, Spahr Type	Metaphyseal sclerosis, Genu valgum, Bowing of the legs, Osteochondritis dissecans, Metaphyseal ch...	OMIM:250400
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Micromelia, Long philtrum, Prominent occiput, Ventricular septal defect, Postax...	OMIM:617895
Spondyloepimetaphyseal Dysplasia, Irapa Type	Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Upper limb undergrowth, Ab...	ORPHA:93351
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Small hand, Broad thumb, Micrognathia, Narrow mouth, Ventricular septal defect, Talipes equinovar...	ORPHA:251028
Radial Hemimelia	Aplasia/Hypoplasia of the radius, Deviation of the hand or of fingers of the hand, Abnormality of...	ORPHA:93321
Marshall Syndrome	Radial bowing, Thick upper lip vermilion, Micrognathia, Knee osteoarthritis, Absent frontal sinus...	OMIM:154780
Contractural Arachnodactyly, Congenital	Micrognathia, Mitral regurgitation, Hip contracture, Ventricular septal defect, Arachnodactyly, B...	OMIM:121050
Autosomal Recessive Omodysplasia	Rhizomelia, Elbow dislocation, Micromelia, Long philtrum, Frontal bossing, Pterygium, Abnormal fe...	ORPHA:93329
Acrodysostosis	Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphol...	ORPHA:950
Metaphyseal Anadysplasia 2	Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin...	OMIM:613073
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Intestinal malrotation, Micrognathia, Splenomegaly, Tibial bowing, Lower limb unde...	ORPHA:3035
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, High palate, Flat acetabu...	OMIM:614091
Chromosome 20Q11-Q12 Deletion Syndrome	Finger clinodactyly, Tarsal osteovalgus, Adducted thumb, Brachydactyly, Camptodactyly, Short phil...	OMIM:614257
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Delayed epiphyseal ossification, Broad middle phalanx of finger, Cone-shaped epiphysis, Short 1st...	OMIM:182255
Microphthalmia With Limb Anomalies	Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, S...	ORPHA:1106
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal femur morphology, Joint h...	ORPHA:429
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Limitation of joint mobili...	ORPHA:2639
Arthrogryposis, Distal, Type 2B2	Hip dislocation, Sandal gap, Broad hallux, Short toe, Clinodactyly, Talipes equinovalgus, Overlap...	OMIM:618435
Spondyloepimetaphyseal Dysplasia, Missouri Type	Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Delayed skeletal maturation, S...	OMIM:602111
Odontochondrodysplasia	Dentinogenesis imperfecta, Cone-shaped epiphysis, Square pelvis bone, Micromelia, Delayed eruptio...	ORPHA:166272
C Syndrome	Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micrognathia, Thick anterior alveolar r...	OMIM:211750
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Delayed skeletal maturation, Wi...	OMIM:613320
Platyspondylic Dysplasia, Torrance Type	Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Micromelia, Hypoplasia...	ORPHA:85166
Cornelia De Lange Syndrome 2	Small hand, Clinodactyly, Downturned corners of mouth, Hypertrophic cardiomyopathy, Micrognathia,...	OMIM:300590
Crossed Polysyndactyly	Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Finger syndactyly, Postaxial hand p...	ORPHA:2935
Schwartz-Jampel Syndrome, Type 1	Joint contracture of the hand, Pursed lips, Micrognathia, Narrow mouth, Hip contracture, Bowing o...	OMIM:255800
Pallister-Hall-Like Syndrome	Toe syndactyly, Postaxial foot polydactyly, Micromelia, Microglossia, Micrognathia, Short ribs, M...	OMIM:241800
Robin Sequence-Oligodactyly Syndrome	Finger aplasia, Abnormality of the dentition, Micrognathia, Abnormal morphology of ulna, Abnormal...	ORPHA:3104
20Q11.2 Microdeletion Syndrome	Finger clinodactyly, Talipes calcaneovalgus, Adducted thumb, Brachydactyly, Camptodactyly, Short ...	ORPHA:444051
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Dental crowding, Long philtrum, Persistent open anterior fontanelle, Atrophic scars, Narrow mouth...	OMIM:615539
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Camptosynpolydactyly, Complex	Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly	OMIM:607539
Acromesomelic Dysplasia 4	Radial bowing, Prominent deltoid tuberosities, Genu valgum, Broad toe, Broad phalanx, Short metac...	OMIM:619636
Stuve-Wiedemann Syndrome 1	Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal rarefaction, Bowing of the lon...	OMIM:601559
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Short thumb, Overlapping toe, Arrhythmia, Camptodactyly, Clinodactyly of the 5th finger	OMIM:618453
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened...	ORPHA:93356
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Small hand, Abnormal hand morphology, Malar flattening, Short foot, Cleft palate	OMIM:300261
Whistling Face Syndrome, Recessive Form	Whistling appearance, Ulnar deviation of finger, Microglossia, Shoulder flexion contracture, Long...	OMIM:277720
Kniest Dysplasia	Delayed epiphyseal ossification, Rhizomelia, Dumbbell-shaped femur, Limitation of joint mobility,...	OMIM:156550
Metatropic Dysplasia	Coarse metaphyseal trabecularization, Micromelia, Hypoplastic cervical vertebrae, Camptodactyly o...	ORPHA:2635
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Joint contracture of the hand, Hyperplasia of the maxilla, Mitral regurg...	OMIM:300280
Kyphomelic Dysplasia	Limitation of joint mobility, Micromelia, Joint stiffness, Micrognathia, Bowing of the long bones...	ORPHA:1801
Cantu Syndrome	Erlenmeyer flask deformity of the femurs, Congenital hypertrophy of left ventricle, Broad hallux,...	OMIM:239850
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Retrognathia, 11 pairs of ribs, Micrognathia, Polyhydramnios, Neonatal d...	OMIM:618393
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Hypoplastic ilia, Rhizomelia, Metaphyseal cupping, Radial bowing, Severe limb shortening, Microme...	OMIM:151210
Weismann-Netter Syndrome	Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared iliac bones, Delayed erup...	OMIM:112350
Arthrogryposis, Distal, Type 1B	Joint contracture of the hand, Foot joint contracture, Talipes equinovarus, Distal arthrogryposis...	OMIM:614335
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm...	ORPHA:3344
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Cone-shaped epiphys...	OMIM:210720
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Restrictive cardiomyopathy, Clinodactyly, Accessory oral frenulum, Mitral regurgitation, Patent f...	ORPHA:88630
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Frontal bossing, O...	OMIM:307800
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Malar flattening, Short 4th ...	OMIM:118651
Arthrogryposis, Distal, Type 1C	Pursed lips, Narrow mouth, Hip contracture, Talipes equinovarus, High palate, Cleft lip, Knee fle...	OMIM:619110
Joubert Syndrome 18	Retrognathia, Trident pelvis, Ventricular septal defect, Bowing of the long bones, Talipes equino...	OMIM:614815
Achondrogenesis Type 1A	Micromelia, Long philtrum, Abnormal enchondral ossification, Umbilical hernia, Micrognathia, Hydr...	ORPHA:93299
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hypoplastic ilia, Limitation of joint mobility, Micromelia, Broad long bones, Clubbing of fingers...	ORPHA:1865
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Hypoplastic left heart, Mandibular prognathia, Broad thumb, Plagiocephaly, Prominent fingertip pa...	OMIM:619721
Syndactyly, Type Iii	Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4...	OMIM:186100
Wahab Syndrome	Short thumb, Clinodactyly, Ankylosis, Adducted thumb, Camptodactyly, Short foot, Short metacarpal...	OMIM:615170
Blount Disease	Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowin...	ORPHA:2768
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin...	ORPHA:1891
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Joint contracture of the hand, Limitation of joint mobility, Micromelia, Equinovarus deformity, B...	OMIM:224400
Ulnar Hypoplasia	Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio...	OMIM:191440
Phocomelia, Schinzel Type	Radial bowing, Abnormal tibia morphology, Fibular aplasia, Micrognathia, Humeroradial synostosis,...	ORPHA:2879
Ruvalcaba Syndrome	Small hand, Dental crowding, Micromelia, Limited elbow extension, Inguinal hernia, Short foot, Sh...	OMIM:180870
Acrofrontofacionasal Dysostosis	Short distal phalanx of finger, Broad thumb, Abnormal epiphysis morphology, Micromelia, Camptodac...	ORPHA:1784
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Aminopterin Syndrome Sine Aminopterin	Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia, Micrognathia, Inguina...	OMIM:600325
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo...	OMIM:201000
Thanatophoric Dysplasia	Abnormal ilium morphology, Micromelia, Frontal bossing, Joint stiffness, Increased nuchal translu...	ORPHA:2655
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Carious teeth, Flat occiput, Bulg...	OMIM:277440
Kyphomelic Dysplasia	Limitation of joint mobility, Radial bowing, Micromelia, Flared metaphysis, Cleft upper lip, Dumb...	OMIM:211350
Lujan-Fryns Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodactyly of finger...	ORPHA:776
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Carious teeth, Downturned corners of mouth, Multiple muscular ventricular septal defects, Microgn...	OMIM:620070
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D...	OMIM:311300
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, C...	OMIM:113000
Syndactyly Type 1	2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ...	ORPHA:93402
Feingold Syndrome Type 2	Toe syndactyly, Short thumb, Ventricular septal defect, Jejunal atresia, Brachydactyly, Short mid...	ORPHA:391646
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, N...	OMIM:235510
Achondrogenesis Type 1B	Micromelia, Long philtrum, Abnormal enchondral ossification, Umbilical hernia, Micrognathia, Tali...	ORPHA:93298
Pierre Robin Syndrome	Cor pulmonale, Micrognathia, Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:261800
3P25.3 Microdeletion Syndrome	Broad thumb, Overlapping toe, Micrognathia, Ventricular septal defect, 2-3 finger syndactyly, Atr...	ORPHA:435638
Endocrine-Cerebroosteodysplasia	Natal tooth, Thick upper lip vermilion, Fibular bowing, Micrognathia, Talipes equinovarus, Bowed ...	OMIM:612651
Ulna Hypoplasia-Intellectual Disability Syndrome	Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Delayed cranial...	ORPHA:2249
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck morphology, Microm...	ORPHA:63446
Recombinant Chromosome 8 Syndrome	Abnormality of the dentition, Joint contracture of the hand, Downturned corners of mouth, Thick l...	OMIM:179613
Cenani-Lenz Syndrome	High, narrow palate, Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syn...	ORPHA:3258
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Decreased fibular diameter, Micrognathia, Ventricular septal defect, Decreased skull ossification...	OMIM:616897
Symphalangism With Multiple Anomalies Of Hands And Feet	Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda...	ORPHA:3246
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Abnormality of the dentition, Finger syndactyly, Delayed skeletal maturation, Radioulnar synostos...	ORPHA:3268
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Retrognathia, Preaxial polydactyly, Overlapping toe, Overlapping fingers, Micrognathia, Ventricul...	OMIM:618142
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Flat occiput, Bulging epiphyses, ...	OMIM:264700
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Micromelia, Flared metaphysis, Frontal bossin...	OMIM:187601
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Micromelia, Finger syndactyly, Tetralogy of Fallot, Micrognathia, Situs in...	ORPHA:1908
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal...	OMIM:156500
Feingold Syndrome 2	Short thumb, 3-4 toe syndactyly, Short middle phalanx of the 2nd finger, Ventricular septal defec...	OMIM:614326
Multiple Synostoses Syndrome 3	Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,...	OMIM:612961
Achondroplasia	Rhizomelia, Radial bowing, Flared metaphysis, Frontal bossing, Femoral bowing, Limited elbow exte...	OMIM:100800
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Cone-shaped epiphysis, Unilateral cleft lip, Shagreen patch, Delayed crani...	ORPHA:2511
Arthrogryposis, Distal, Type 1A	Hand clenching, Joint contracture of the hand, Overlapping fingers, Overlapping toe, Narrow mouth...	OMIM:108120
Muenke Syndrome	Coronal craniosynostosis, Broad thumb, Dental malocclusion, Clinodactyly, Short middle phalanx of...	OMIM:602849
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Delayed cranial suture cl...	OMIM:175700
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Avascular necrosis of the capital femoral epiphysis, Overlapping toe, Ventricular septal defect, ...	OMIM:614262
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Ankle flexion contracture, Dental crowding, Retrognathia, Arthrogryposis multiplex congenita, Int...	OMIM:617468
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	Joint contracture of the hand, 1-4 finger syndactyly, Selective tooth agenesis, Widely spaced tee...	OMIM:225280
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Diaphyseal undertubulation, Metaphyseal dysplasia, Abnormal...	ORPHA:175
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Slender long bone, Micrognathia, Bowing of limbs due to multiple fract...	OMIM:259420
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Delayed eruption of teet...	ORPHA:289157
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val...	OMIM:600785
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Metaphyseal dysplasia, Joint dislocation, Femoral bowing, Limited elb...	OMIM:618019
Alkuraya-Kucinskas Syndrome	Hand clenching, Plagiocephaly, Arthrogryposis multiplex congenita, Clinodactyly, Abnormal foot mo...	OMIM:617822
ERI1-related disease	Velopharyngeal insufficiency, Micrognathia, Ventricular septal defect, Pes planus, Patellar dislo...	OMIM:608739
Achondrogenesis	Micromelia, Long philtrum, Abnormal enchondral ossification, Umbilical hernia, Micrognathia, Ingu...	ORPHA:932
Acromesomelic Dysplasia 1	Acromesomelia, Radial bowing, Short toe, Flared metaphysis, Long hallux, Cone-shaped epiphyses of...	OMIM:602875
Mesomelia-Synostoses Syndrome	Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Ulna...	OMIM:600383
Dysostosis, Stanescu Type	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morpho...	ORPHA:1798
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti...	ORPHA:2634
Arthrogryposis, Distal, Type 7	Cutaneous syndactyly of toes, Micrognathia, Talipes equinovarus, Distal arthrogryposis, Deep phil...	OMIM:158300
Mosaic Trisomy 9	Limitation of joint mobility, Elbow dislocation, Endocardial fibroelastosis, Micrognathia, Ventri...	ORPHA:99776
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Gordon Syndrome	Limitation of joint mobility, Finger syndactyly, Decreased muscle mass, Camptodactyly of finger, ...	ORPHA:376
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Flat occiput, Bulging epiphyses, Rickets, Frontal bossing, Bone ...	OMIM:600081
Neurogenic Arthrogryposis Multiplex Congenita	Ankle flexion contracture, Plagiocephaly, Skeletal muscle atrophy, Upper limb muscle weakness, Eq...	ORPHA:1143
German Syndrome	Limitation of joint mobility, Camptodactyly of finger, Tetralogy of Fallot, Lymphedema, Micrognat...	ORPHA:2077
Meckel Syndrome, Type 8	Cleft upper lip, Polydactyly, Talipes equinovarus, Pericardial effusion, Cleft palate	OMIM:613885
Congenital Insensitivity To Pain With Severe Intellectual Disability	Talipes equinovalgus, Osteomyelitis, Micrognathia, Oligohydramnios, Tibial bowing, Congenital bil...	ORPHA:453510
Triphalangeal Thumb, Nonopposable	Triphalangeal thumb, Polydactyly	OMIM:190600
Congenital Heart Defects And Ectodermal Dysplasia	2-3 toe cutaneous syndactyly, Broad thumb, Deep plantar creases, Widely spaced teeth, Atrioventri...	OMIM:617364
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Plagiocephaly, Downturned corners of mouth, Malar flattening, Ventricular septal defect, Short ph...	ORPHA:94066
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplastic left heart, Micromelia, Decreased calvarial ossification, Ventricular septal defect, ...	ORPHA:2772
Triphalangeal Thumb With Polysyndactyly	Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po...	OMIM:190605
Thanatophoric Dysplasia Type 2	Limitation of joint mobility, Micromelia, Frontal bossing, Increased nuchal translucency, Joint h...	ORPHA:93274
Craniofrontonasal Dysplasia	Abnormality of the dentition, Plagiocephaly, Finger syndactyly, Sandal gap, Camptodactyly of fing...	ORPHA:1520
Corpus Callosum, Agenesis Of	Camptodactyly, Joint contracture of the hand, Frontal bossing	OMIM:217990
2Q32Q33 Microdeletion Syndrome	Toe clinodactyly, Broad thumb, Dental crowding, Long philtrum, Micrognathia, Narrow mouth, Oligod...	ORPHA:251019
Dyschondrosteosis-Nephritis Syndrome	Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Mi...	ORPHA:1765
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Prominent occiput, Micrognath...	OMIM:220210
Lethal Congenital Contracture Syndrome 11	Microretrognathia, Retrognathia, Elbow flexion contracture, Polyhydramnios, Distal arthrogryposis...	OMIM:617194
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Micromelia, Frontal bossing, Joint stiffness, Femoral bowing, Increased nuchal ...	ORPHA:1860
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Limited pronation/supination of forearm, Radial bowing, Madelung deformity	DECIPHER:58
Eng-Strom Syndrome	Camptodactyly of finger, Ventricular septal defect, Brachydactyly, Arthritis, Abnormal cardiac se...	ORPHA:1937
Juberg-Hayward Syndrome	Cleft upper lip, Anteriorly placed anus, Limited elbow extension, Abnormal toe morphology, Aplasi...	OMIM:216100
Hallux Varus And Preaxial Polysyndactyly	Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly	OMIM:234280
Mmep Syndrome	Ventricular septal defect, Median cleft upper lip, Orofacial cleft, Triphalangeal thumb, Mandibul...	ORPHA:3434
Osteogenesis Imperfecta, Type Ii	Abnormal pelvic girdle bone morphology, Broad long bones, Congestive heart failure, Tibial bowing...	OMIM:166210
Glass Syndrome	Conical tooth, Dental crowding, Long philtrum, Frontal bossing, Gingival overgrowth, Narrow mouth...	OMIM:612313
Blount Disease, Adolescent	Osteochondritis dissecans, Genu varum, Bowing of the legs	OMIM:259200
Melnick-Needles Syndrome	Tooth malposition, Hypoplastic scapulae, Delayed cranial suture closure, Genu valgum, Micrognathi...	OMIM:309350
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Arthrogryposis-like hand anomaly, Mandibular prognathia, Plagiocephaly, Clinodactyly, Downturned ...	ORPHA:369891
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ...	ORPHA:2491
Spondylometaphyseal Dysplasia, A4 Type	Limitation of joint mobility, Micromelia, Short palm, Coxa vara	ORPHA:168555
Grant Syndrome	Wormian bones, Micrognathia, Tibial bowing, Down-sloping shoulders	OMIM:138930
14Q11.2 Microdeletion Syndrome	Toe clinodactyly, Toe syndactyly, Long philtrum, Micrognathia, Narrow mouth, Exaggerated cupid's ...	ORPHA:261120
Achondrogenesis Type 2	Hypoplastic ilia, Micromelia, Absent vertebral body mineralization, Delayed pubic bone ossificati...	ORPHA:93296
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis	OMIM:156232
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Hernia, Bicuspid aortic v...	ORPHA:363705
4Q21 Microdeletion Syndrome	Abnormality of the dentition, Small hand, Toe syndactyly, Micromelia, Downturned corners of mouth...	ORPHA:238750
Cataract-Intellectual Disability-Hypogonadism Syndrome	Tooth malposition, Ulnar deviation of finger, Furrowed tongue, Abnormal distal phalanx morphology...	ORPHA:1387
Acromesomelic Dysplasia, Hunter-Thompson Type	Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormality of the ankle, Short thumb, E...	ORPHA:968
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Narrow mouth, Humeroradial syn...	OMIM:251230
Premature Aging Syndrome, Penttinen Type	Delayed cranial suture closure, Micrognathia, Flexion contracture of finger, Short foot, Hypoplas...	OMIM:601812
Frontonasal Dysplasia 1	Joint contracture of the hand, Hypoplasia of the maxilla, Clinodactyly, Radial deviation of finge...	OMIM:136760
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly, Brachydactyly, Metacarpal synostosis	ORPHA:35099
Robinow Syndrome, Autosomal Recessive 2	Abnormality of the dentition, Broad thumb, Clinodactyly, Prominent fingertip pads, Sandal gap, Br...	OMIM:618529
Otopalatodigital Syndrome, Type Ii	Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia...	OMIM:304120
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi...	OMIM:259600
Polydactyly, Postaxial, Type A1	Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han...	OMIM:174200
Keipert Syndrome	Broad distal phalanx of finger, Broad thumb, Clinodactyly, Broad hallux, Downturned corners of mo...	OMIM:301026
Syndactyly, Type Iv	Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy...	OMIM:186200
Ellis Van Creveld Syndrome	Synostosis of carpal bones, Genu valgum, Ventricular septal defect, Atrial septal defect, Dextroc...	ORPHA:289
8Q12 Microduplication Syndrome	Long philtrum, Narrow mouth, Ventricular septal defect, Brachycephaly, Atrial septal defect, Ever...	ORPHA:228399
Upper Limb Mesomelic Dysplasia	Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna	ORPHA:2497
Intellectual Developmental Disorder, Autosomal Recessive 33	Short toe, Syndactyly	OMIM:614341
Isolated Congenital Hypoglossia/Aglossia	Aplasia/Hypoplasia of fingers, Microglossia, Temporomandibular joint ankylosis, Micrognathia, Cle...	ORPHA:141152
Pseudodiastrophic Dysplasia	Rhizomelia, Hypoplasia of the odontoid process, Elbow dislocation, Micrognathia, Malar flattening...	OMIM:264180
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Potocki-Shaffer Syndrome	Downturned corners of mouth, Parietal foramina, Single transverse palmar crease, Turricephaly, Wo...	OMIM:601224
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic cervical verteb...	OMIM:114290
Spinal Muscular Atrophy With Impaired Intellectual Development	Spinal muscular atrophy, Syndactyly	OMIM:271109
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow pelvis bone, Long philtrum, Femoral...	OMIM:207410
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Mandibular prognathia, Micromelia	ORPHA:2252
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Genu valgum, Micrognathia, Hip contracture, Pes planus, Flattened epiphysis, High ...	OMIM:618363
Ruvalcaba Syndrome	Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Dental crowding, Abnor...	ORPHA:3121
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Joint contracture of the hand, Small hypothenar eminence, Long philtrum, Inguinal hernia, Mitral ...	OMIM:211960
Microcephaly-Cardiomyopathy Syndrome	High, narrow palate, Dilated cardiomyopathy, Sandal gap, Ventricular septal defect, Clinodactyly ...	ORPHA:2515
3M Syndrome	Congenital hip dislocation, Rocker bottom foot, Slender long bone, Micromelia, Delayed eruption o...	ORPHA:2616
Chromosome 3Pter-P25 Deletion Syndrome	Flat occiput, Downturned corners of mouth, Long philtrum, Retrognathia, Atrioventricular canal de...	OMIM:613792
Syndactyly Type 3	Short toe, Finger syndactyly, Camptodactyly of finger	ORPHA:93404
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal epiphysis morphology, Elbow dislocation, Retrognathia, Camptodactyly of finger, Abnormal...	ORPHA:2631
Heart-Hand Syndrome, Slovenian Type	Dilated cardiomyopathy, Clinodactyly, Myopathy, Aplasia of the middle phalanx of the hand, Brachy...	OMIM:610140
Mesoaxial Hexadactyly And Cardiac Malformation	Ventricular septal defect, Hand polydactyly, Atrial septal defect, Everted lower lip vermilion, T...	OMIM:249670
Perching Syndrome	Camptodactyly, High palate, Joint contracture	OMIM:617055
Pierpont Syndrome	Short toe, Prominent fingertip pads, Short finger, Abnormality of the plantar skin of foot, Widel...	ORPHA:487825
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Flat occiput, Bulging epiphyses, Rickets, Frontal bossing, Bone ...	OMIM:241530
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Micromelia, Metaphyseal spurs, Irregular epiphyses, Small epiphyses, Femoral bowing, Limited elbo...	OMIM:608728
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Bifid uvula, Broad distal phalanx of finger, Postaxial foot polydactyly, Lower limb asymmetry, Do...	ORPHA:404440
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Joint dislocation, Open...	ORPHA:2097
Baller-Gerold Syndrome	Finger aplasia, Aplasia/Hypoplasia of the radius, Brachyturricephaly, Anteriorly placed anus, Fro...	ORPHA:1225
Chondrodysplasia With Joint Dislocations, Gpapp Type	Coronal craniosynostosis, Patellar dislocation, Short toe, Knee dislocation, Genu valgum, Limited...	OMIM:614078
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Radial metaphyseal irregular...	OMIM:177170
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Hypoplastic left heart, Microglossia, Microretrognathia, Short tibia, Short thu...	ORPHA:1972
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Reduced arm span, Arthralgia...	ORPHA:166002
Achondrogenesis, Type Ia	Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe...	OMIM:200600
Pentasomy X	Small hand, Plagiocephaly, Camptodactyly of finger, Micrognathia, Radioulnar synostosis, Abnormal...	ORPHA:11
Clark-Baraitser Syndrome	Sandal gap, Clinodactyly, Downturned corners of mouth, Long philtrum, Exaggerated cupid's bow, Th...	OMIM:617752
Hyperekplexia 4	Umbilical hernia, Inguinal hernia, Talipes equinovarus, Distal arthrogryposis, Adducted thumb, Ca...	OMIM:618011
Image Syndrome	Frontal bossing, Micromelia, Metaphyseal dysplasia	ORPHA:85173
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Hepatosplenomegaly,...	ORPHA:96334
Acitretin/Etretinate Embryopathy	Abnormality of the calcaneus, Third degree atrioventricular block, Atrioventricular canal defect,...	ORPHA:40366
Pierre Robin Syndrome And Oligodactyly	Finger aplasia, Micrognathia, Cleft palate, Pierre-Robin sequence	OMIM:172880
Pierpont Syndrome	Short toe, Prominent fingertip pads, Short finger, Deep plantar creases, Widely spaced teeth, Pro...	OMIM:602342
Ollier Disease	Micromelia, Joint stiffness, Lymphangioma, Abnormal metaphysis morphology, Osteolysis, Bone pain	ORPHA:296
Arthrogryposis, Distal, Type 2B1	Mandibular prognathia, Rocker bottom foot, Arthrogryposis multiplex congenita, Long philtrum, Cam...	OMIM:601680
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi...	OMIM:618167
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia	ORPHA:71289
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina...	OMIM:605432
Hypophosphatasia, Infantile	Abnormality of the dentition, Metaphyseal cupping, Unossified vertebral bodies, Micromelia, Still...	OMIM:241500
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Lower limb asymmetry, Sandal gap, Downturned corners of mouth, Lo...	OMIM:615761
Arthrogryposis, Distal, Type 2B3	Overlapping fingers, Narrow mouth, Talipes equinovarus, Hallux valgus, Ulnar deviation of the han...	OMIM:618436
Terminal Osseous Dysplasia	Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Acc...	OMIM:300244
Hoxha-Aliu Syndrome	Overlapping toe, Absent fifth metatarsal, Broad foot, Atrial septal defect, Patellar dislocation,...	OMIM:620662
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Apert Syndrome	Bifid uvula, Hypoplasia of the maxilla, Broad thumb, Toe syndactyly, Micromelia, Finger syndactyl...	ORPHA:87
Intellectual Developmental Disorder, Autosomal Recessive 73	Osteopenia, Widely spaced teeth, Thick upper lip vermilion, Single transverse palmar crease, Vent...	OMIM:619717
Rhizomelic Limb Shortening With Dysmorphic Features	Short 5th finger, Rhizomelia, Plagiocephaly, Short thumb, Prominent fingertip pads, Long philtrum...	OMIM:618821
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Intestinal lymphangiectasia, Lymphedema, Narrow mouth, Irregular dentition, Pulmonary lymphangiec...	OMIM:616006
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Rhizomelia, Abnormal epiphysis morphology, Downturned corners of mouth, Frontal bossing, Microgna...	ORPHA:93267
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Broad thumb, Toe syndactyly, Flat occiput, Long philtrum, Retrognathia, Overlapping toe, Ventricu...	ORPHA:505237
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Limitation of joint mo...	ORPHA:3098
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Slender finger, Hemiatrophy of upper limb, Downturned corners of mouth, Long philtrum, Frontal bo...	ORPHA:163649
Cornelia De Lange Syndrome 5	Small hand, Toe syndactyly, Downturned corners of mouth, Long philtrum, Widely spaced teeth, Retr...	OMIM:300882
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Clinodactyly of the 2nd finger, Velopharyngeal insufficiency, Micrognathia, Ventricular septal de...	OMIM:620663
Classical-Like Ehlers-Danlos Syndrome Type 2	Cellulitis, Tooth malposition, Periodontitis, Elbow dislocation, Micrognathia, Mitral valve prola...	ORPHA:536532
Aase-Smith Syndrome	Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp...	ORPHA:916
Kury-Isidor Syndrome	Finger syndactyly, Long philtrum, Widely spaced teeth, Frontal bossing, Tented upper lip vermilio...	OMIM:619762
Pde4D Haploinsufficiency Syndrome	Micrognathia, Broad foot, Pes planus, Broad phalanx, Bilateral coxa valga, Short metacarpal, Hypo...	ORPHA:439822
Campomelia, Cumming Type	Clubbing of toes, Micromelia, Lymphedema, Abnormally ossified vertebrae, Oligohydramnios, Bowing ...	ORPHA:1318
Congenital Disorder Of Glycosylation, Type Il	Long philtrum, Frontal bossing, Ascites, Delayed skeletal maturation, Villous atrophy, Splenomega...	OMIM:608776
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Fibular overgrowth, Micromelia, Short femoral neck, Flared metap...	OMIM:602557
Thanatophoric Dysplasia, Glasgow Variant	Hepatosplenomegaly, Micromelia, Neonatal death	OMIM:273680
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Genu valgum, Narrow mouth, Micrognathia, Mitral valve prolapse, Congenital d...	OMIM:245600
Winchester Syndrome	Carpal osteolysis, Gingival overgrowth, Osteolysis involving tarsal bones, Arthropathy, Generaliz...	OMIM:277950
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Aortic valve stenosis, Small hand, Widely spaced teeth, Trigonocephaly, Scaphocephaly, Micrognath...	ORPHA:459061
Raine Syndrome	Natal tooth, Arthrogryposis multiplex congenita, Long hallux, Micrognathia, Narrow mouth, Protrud...	OMIM:259775
Cardioacrofacial Dysplasia 1	Conical tooth, Hypoplasia of the maxilla, Diastema, Atrioventricular canal defect, Genu valgum, C...	OMIM:619142
Endocardial Fibroelastosis	Restrictive cardiomyopathy, Sandal gap, Congestive heart failure, Endocardial fibroelastosis, Mic...	ORPHA:2022
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl...	OMIM:607078
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Ectrodactyly, Long philtrum, Radial club hand, Abnormal dental morphology, Abnormality of the wri...	ORPHA:2878
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, Ventricular septal defect, 2-3 toe syndactyly, Talipes equinovarus, Short ph...	ORPHA:3306
Gillessen-Kaesbach-Nishimura Syndrome	Retrognathia, Abnormal heart morphology, Micrognathia, Oligohydramnios, Congenital diaphragmatic ...	OMIM:263210
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Camptodactyly Syndrome, Guadalajara Type 1	Short distal phalanx of finger, Toe syndactyly, Dental malocclusion, Short toe, Downturned corner...	ORPHA:1327
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Broad thumb, Flat occiput, Retrognathia, Long philtrum, Overlapping toe, Down-sloping shoulders, ...	OMIM:617452
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Mitral regurgitation, Carpal bone hypoplasia, Pes planus, Abnormali...	ORPHA:457395
Rhyns Syndrome	Osteopenia, Radial bowing, Delayed skeletal maturation, Thickened calvaria, Brachydactyly, Short ...	OMIM:602152
Martsolf Syndrome 1	Tooth malposition, Micrognathia, Talipes equinovarus, Pes planus, Broad fingertip, Finger joint h...	OMIM:212720
Sandestig-Stefanova Syndrome	Clinodactyly, Retrognathia, Muscular ventricular septal defect, Trigonocephaly, Bilateral single ...	OMIM:618804
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Hypoplastic cervical vertebrae, Elbow dislocation, Retrognathia, Knee dislocation, Small epiphyse...	OMIM:620269
Neuralgic Amyotrophy	Bifid uvula, Upper limb muscle weakness, Narrow mouth, Upper limb pain, Syndactyly, Scapular wing...	ORPHA:2901
Van Den Ende-Gupta Syndrome	Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Micrognathia,...	OMIM:600920
Tibial Torsion, Bilateral Medial	Bowing of the legs, Tibial torsion	OMIM:188800
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Pterygium, Calvarial skull defect, Narrow mouth, Micrognathia, Malar flattening, Neon...	OMIM:224410
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia, Cloverleaf skull	OMIM:156830
Osteogenesis Imperfecta, Type X	Pyloric stenosis, Rhizomelia, Dentinogenesis imperfecta, Osteopenia, Micromelia, Genu valgum, Fib...	OMIM:613848
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos...	OMIM:112910
Glutamine Deficiency, Congenital	Micromelia, Neonatal death, Bradycardia, Camptodactyly, Flexion contracture, Thin vermilion border	OMIM:610015
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Plagiocephaly, Clinodactyly, Frontal bossing, Open mouth, Patent foramen ovale, Talipes equinovar...	OMIM:616789
Achondrogenesis, Type Ib	Hypoplastic ilia, Micromelia, Umbilical hernia, Absent or minimally ossified vertebral bodies, Ma...	OMIM:600972
Moebius Syndrome	Hand clenching, Abnormal pelvic girdle bone morphology, Bifid uvula, Abnormality of the dentition...	OMIM:157900
Syndactyly Type 5	Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda...	ORPHA:93406
Isolated Osteopoikilosis	Limitation of joint mobility, Abnormal pelvis bone ossification, Sclerosis of foot bone, Abnormal...	ORPHA:166119
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp...	OMIM:215140
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Small hand, Plagiocephaly, Downturned corners of mouth, Prominent occiput, Malar flattening, Doli...	OMIM:618672
Orofaciodigital Syndrome Xvii	High, narrow palate, Clinodactyly, Retrognathia, Tetralogy of Fallot, Partial duplication of thum...	OMIM:617926
Jawad Syndrome	Retrognathia, Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal cr...	OMIM:251255
Split-Hand/Foot Malformation 3	Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, Split hand, Camptodactyly, High palat...	OMIM:246560
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Short distal phalanx of finger, Joint dislocation, Short toe, Abnormal mandi...	ORPHA:3201
Braddock-Carey Syndrome 1	Small hand, Clinodactyly, Anteriorly placed anus, Ventricular septal defect, Aortic valve prolaps...	OMIM:619980
Infantile Systemic Hyalinosis	Osteopenia, Micromelia, Aplasia/Hypoplasia of the thymus, Camptodactyly of finger, Lymphedema, Ab...	ORPHA:2176
Orofaciodigital Syndrome Xviii	Short distal phalanx of finger, Cleft lip, Sandal gap, Diastema, Preaxial polydactyly, Delayed sk...	OMIM:617927
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Joint hypermobility	ORPHA:238446
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Micromelia, Broad hallux, Long philtrum, Hypoplasia of the zygomatic bone, Delayed sk...	OMIM:614800
Cooper-Jabs Syndrome	Anteriorly placed anus, Camptodactyly of finger, Frontal bossing, Umbilical hernia, Abnormal hip ...	ORPHA:1488
Hydrolethalus	Bifid uvula, Gingival cleft, Micromelia, Unilateral cleft lip, Retrognathia, Micrognathia, Submuc...	ORPHA:2189
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Plagiocephaly, Clinodactyly, Long philtrum, Micrognathia, Unilambdoid synostosis, Brachycephaly, ...	OMIM:618577
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly	OMIM:615938
Familial Scaphocephaly Syndrome, Mcgillivray Type	Toe syndactyly, Open bite, Trigonocephaly, Dolichocephaly, High palate, Mandibular prognathia, Br...	ORPHA:168624
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Atrioventricular canal defect, Short first metatarsal, Epiphyseal stippling...	OMIM:619135
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Tongue atrophy, Decreased muscle mass, Hypermobility of distal interp...	OMIM:615065
Ritscher-Schinzel Syndrome 2	Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ...	OMIM:300963
Pelger-Huet Anomaly	Abnormality of the dentition, Short 3rd metacarpal, Upper limb undergrowth, Umbilical hernia, Sho...	OMIM:169400
Intellectual Developmental Disorder, Autosomal Dominant 26	Arthrogryposis multiplex congenita, Umbilical hernia, Micrognathia, Narrow mouth, Inguinal hernia...	OMIM:615834
Periventricular Nodular Heterotopia 7	Microretrognathia, 1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2...	OMIM:617201
Osteopathia Striata-Cranial Sclerosis Syndrome	Aortic valve stenosis, Delayed cranial suture closure, Micrognathia, Flat occiput, High, narrow p...	ORPHA:2780
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Clinodactyly, Genu valgum, Triangular mouth, Cutaneous syndactyl...	ORPHA:166024
Distal Arthrogryposis Type 1	Ulnar deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Overlapping fin...	ORPHA:1146
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Clinodactyly, Micrognathia, Open mouth, Single transverse palmar crease, Thin upper lip vermilion...	OMIM:613604
Hypertrichosis Cubiti	Rhizomelia, Micromelia, Delayed skeletal maturation, Joint hypermobility, Abnormality of the elbow	ORPHA:2220
Cardioacrofacial Dysplasia 2	Common atrium, Conical tooth, Postaxial foot polydactyly, Atrioventricular canal defect, Genu val...	OMIM:619143
Bardet-Biedl Syndrome 5	Syndactyly, Brachydactyly, Polydactyly	OMIM:615983
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral...	OMIM:166740
Vulto-Van Silfhout-De Vries Syndrome	2-3 toe cutaneous syndactyly, Mandibular prognathia, Prominent fingertip pads, Thick lower lip ve...	OMIM:615828
Orofaciodigital Syndrome Type 10	Short tibia, Fibular aplasia, Cleft soft palate, Micrognathia, Tarsal synostosis, Mesomelic arm s...	ORPHA:2756
Osteogenesis Imperfecta, Type Xii	Generalized osteoporosis, Dentinogenesis imperfecta, Hypermobility of interphalangeal joints, Del...	OMIM:613849
19P13.12 Microdeletion Syndrome	Toe clinodactyly, Aortic regurgitation, Arthrogryposis multiplex congenita, Sandal gap, Finger sy...	ORPHA:254346
Fibrochondrogenesis	Hypoplastic scapulae, Plagiocephaly, Micromelia, Abnormal diaphysis morphology, Camptodactyly of ...	ORPHA:2021
Geroderma Osteodysplasticum	Abnormality of the dentition, Hypoplasia of the maxilla, Osteopenia, Periodontitis, Femoral bowin...	OMIM:231070
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Toe syndactyly, Long philtrum, Umbilical hernia, Micrognathia, Malar flattening, Turricephaly, Bo...	ORPHA:171839
Peroxisome Biogenesis Disorder 8A (Zellweger)	Epiphyseal stippling, Glossoptosis, Ventricular septal defect	OMIM:614876
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Rhizomelia, Metaphyseal cupping, Dental malocclusion, Flared metaphysis, Short finger, Joint stif...	OMIM:608940
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Synostosis of carpal bones, Elbow dislocation, Short thumb, Sanda...	ORPHA:90650
Fetal Minoxidil Syndrome	Clinodactyly of the 5th finger, Micrognathia, Umbilical hernia, Ventricular septal defect	ORPHA:1918
Cranioectodermal Dysplasia	Short distal phalanx of finger, Rhizomelia, Abnormality of the dentition, Finger syndactyly, Abno...	ORPHA:1515
Campomelic Dysplasia	Small abnormally formed scapulae, Tracheomalacia, 11 pairs of ribs, Femoral bowing, Micrognathia,...	ORPHA:140
Catifa Syndrome	Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Inguinal hernia, Increase...	OMIM:618761
Acropectoral Syndrome	Finger syndactyly, Preaxial hand polydactyly	ORPHA:85203
Cleidocranial Dysplasia	Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Micrognathia, Decreased skull ossifi...	ORPHA:1452
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Toe syndactyly, Elbow flexion contracture, High palate, Hip contracture, Knee flexion...	OMIM:616809
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture ...	ORPHA:93315
Disorganization, Mouse, Homolog Of	Limb duplication, Cleft upper lip, Hand polydactyly, Multiple lipomas, Sacral lipoma, Hip disloca...	OMIM:223200
Osteogenesis Imperfecta, Type Viii	Dentinogenesis imperfecta, Osteopenia, Slender long bone, Radial bowing, Femoral bowing, Recurren...	OMIM:610915
Acromegaloid Facial Appearance Syndrome	Short 5th metacarpal, Micrognathia, Joint hypermobility, Thickened calvaria, Deep philtrum, Large...	OMIM:102150
Bardet-Biedl Syndrome 7	Clinodactyly, Narrow mouth, Malar flattening, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:615984
Myhre Syndrome	Aortic valve stenosis, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Overla...	OMIM:139210
Cornelia De Lange Syndrome 1	Micrognathia, Congenital diaphragmatic hernia, Ventricular septal defect, High palate, Dislocated...	OMIM:122470
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Overlapping fingers, Micrognathia, Knee flexion contracture...	OMIM:616531
Cranioacrofacial Syndrome	Abnormal hand morphology, Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect	OMIM:122850
Robinow Syndrome, Autosomal Dominant 2	Broad thumb, Clinodactyly, Cleft soft palate, Micrognathia, Oligodontia, Thin upper lip vermilion...	OMIM:616331
Spondyloepiphyseal Dysplasia, Kimberley Type	Abnormal epiphysis morphology, Micromelia, Osteoarthritis	ORPHA:93283
Smith-Magenis Syndrome	Abnormal forearm morphology, Abnormality of the dentition, Velopharyngeal insufficiency, Everted ...	OMIM:182290
Heart Defects-Limb Shortening Syndrome	Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb shortening, Abnormal mitral valve ...	ORPHA:1354
Congenital Muscular Dystrophy, Fukuyama Type	Muscular dystrophy, Dilated cardiomyopathy, Plagiocephaly, Camptodactyly of finger, Myopathy, Bra...	ORPHA:272
Congenital Disorder Of Glycosylation, Type Ie	High, narrow palate, Ankle flexion contracture, Small hand, Muscular dystrophy, Upper limb underg...	OMIM:608799
Even-Plus Syndrome	Epiphyseal dysplasia, Dysplasia of the femoral head, Oligohydramnios, Patent foramen ovale, Hypod...	OMIM:616854
Fibrochondrogenesis 1	Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad long bones, Narrow mouth, ...	OMIM:228520
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Delayed skeletal maturation, Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone miner...	OMIM:617974
Orofaciodigital Syndrome Viii	Short tibia, Polydactyly, Median cleft upper lip, High palate, Cleft palate, Syndactyly	OMIM:300484
Congenital Syphilis	Hyperplasia of the maxilla, Hepatosplenomegaly, Tibial bowing, Synovitis, Osteochondrosis, Lympha...	ORPHA:499009
Carpenter Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Polysplenia, Umbilical hernia, Oxycephaly, Preaxi...	ORPHA:65759
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Velopharyngeal insufficiency, Long philtrum, Skull asymmetry, Tetralogy of Fallot, Intestinal mal...	OMIM:614701
Intellectual Developmental Disorder, Autosomal Recessive 79	Slender finger, Ventricular septal defect, Thin upper lip vermilion, Smooth philtrum, Short hallu...	OMIM:620393
Osseous Heteroplasia, Progressive	Ankylosis, Limb undergrowth, Ectopic ossification in muscle tissue	OMIM:166350
Bohring-Opitz Syndrome	Overlapping toe, Micrognathia, Narrow mouth, Ventricular septal defect, Bilateral cleft palate, A...	OMIM:605039
Split-Hand/Foot Malformation 1	Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,...	OMIM:183600
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Cardiofacioneurodevelopmental Syndrome	Cleft lip, Atrioventricular canal defect, Micrognathia, Ventricular septal defect, Brachydactyly,...	OMIM:619123
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Trigonocephaly, Delayed eruption of permanent teeth, Exaggerated cupid's bow, Ventricular septal ...	OMIM:618506
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ad...	OMIM:617719
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Clinodactyly, Micrognathia, Ventricular septal defect, Syndactyly, Cleft lip, Downtu...	OMIM:616894
Nemaline Myopathy 9	Nemaline bodies, Micrognathia, Ventricular septal defect, Polyhydramnios, High palate, Arthrogryp...	OMIM:615731
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b...	OMIM:101200
49,Xyyyy Syndrome	Short 5th finger, Lower limb asymmetry, Finger clinodactyly, Delayed skeletal maturation, Bridged...	ORPHA:99330
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormality of the dentition, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, R...	ORPHA:363444
Imagawa-Matsumoto Syndrome	Clinodactyly, Anteriorly placed anus, Umbilical hernia, Long foot, Accelerated skeletal maturatio...	OMIM:618786
Cerebrooculofacioskeletal Syndrome 3	Edema, Micrognathia, Talipes equinovarus, Rocker bottom foot, Arthrogryposis multiplex congenita,...	OMIM:616570
Polydactyly, Postaxial, Type A5	Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly	OMIM:263450
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Micromelia, Orofacial cleft, Femoral retroversion, Macroglossia	ORPHA:79107
Achondrogenesis, Type Ii	Microretrognathia, Edema, Long philtrum, Abnormal foot morphology, Short tubular bones of the han...	OMIM:200610
Frontometaphyseal Dysplasia 1	Hypoplasia of the musculature, Broad phalanges of the hand, Partial fusion of carpals, Carpal syn...	OMIM:305620
Stuve-Wiedemann Syndrome 2	Congestive heart failure, Neonatal death, Bowing of the long bones, Pulmonary arterial hypertensi...	OMIM:619751
Sweeney-Cox Syndrome	Short distal phalanx of finger, Velopharyngeal insufficiency, Micrognathia, Narrow mouth, Median ...	OMIM:617746
Anauxetic Dysplasia 1	Aortic valve stenosis, Hypoplastic ilia, Rhizomelia, Short toe, Flared metaphysis, Short finger, ...	OMIM:607095
Chromosome 1P36 Deletion Syndrome, Proximal	Dilated cardiomyopathy, Cleft lip, Clinodactyly, Frontal bossing, Biventricular hypertrophy, Coro...	OMIM:619343
Schaaf-Yang Syndrome	Small hand, Rocker bottom foot, Mandibular prognathia, Clinodactyly, Retrognathia, Arthrogryposis...	OMIM:615547
Hamamy Syndrome	Micrognathia, Mitral regurgitation, Atrial septal defect, Everted lower lip vermilion, High palat...	OMIM:611174
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Jaw swelling, Gingival overgrowth, Camptodactyly of finger, Flexion contracture of toe	OMIM:619323
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Long philtrum, Micrognathia, Malar flattening, Abnormal metacarpal morphology, Osteoarthritis, Gl...	ORPHA:166100
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Small hand, Toe syndactyly, Micrognathia, Limited elbow movement, Ventricular septal defect, Bicu...	OMIM:610759
Desmosterolosis	Bifid uvula, Micromelia, Retrognathia, Frontal bossing, Intestinal malrotation, Micrognathia, Nar...	ORPHA:35107
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Abnormal epiphysis morphology, Micromelia, Retrognathia, Tooth agenesis, Delayed skeletal maturat...	ORPHA:2637
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Pe...	OMIM:251450
Syndactyly Type 4	Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact...	ORPHA:93405
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Broad hallux, 11 pairs ...	OMIM:620073
Alg9-Cdg	Hypoplasia of the musculature, Delayed cranial suture closure, Micrognathia, Ventricular septal d...	ORPHA:79328
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Hennekam Syndrome	Finger syndactyly, Narrow mouth, Pulmonary lymphangiectasia, Abnormal oral mucosa morphology, Lym...	ORPHA:2136
Chromosome 6Pter-P24 Deletion Syndrome	Narrow mouth, Ventricular septal defect, Telangiectasia, Atrial septal defect, Broad toe, Anal at...	OMIM:612582
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Coffin-Siris Syndrome 6	High, narrow palate, Plagiocephaly, Clinodactyly, Retrognathia, Micrognathia, Wormian bones, Deep...	OMIM:617808
Thiemann Disease	Avascular necrosis, Short phalanx of finger, Broad phalanx	OMIM:165700
Desbuquois Syndrome	Genu recurvatum, Small hand, Patellar dislocation, Elbow dislocation, Camptodactyly of finger, Ve...	ORPHA:1425
Char Syndrome	Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Persistence of primary te...	ORPHA:46627
Bardet-Biedl Syndrome 8	Postaxial polydactyly, Brachycephaly, Situs inversus totalis	OMIM:615985
Cardiocranial Syndrome, Pfeiffer Type	High, narrow palate, Slender finger, Bifid uvula, Cutaneous syndactyly of toes, Small hypothenar ...	ORPHA:2872
Acromicric Dysplasia	Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long philtrum, Thick lower lip vermilio...	OMIM:102370
Adams-Oliver Syndrome 5	Umbilical hernia, Hypersplenism, Splenomegaly, Patent foramen ovale, Inguinal hernia, Esophageal ...	OMIM:616028
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Micrognathia, Split foot, Malar flattening, Split hand, Cleft palate	OMIM:183700
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Abnormal joint morphology, Micrognathia, Peri...	ORPHA:2753
Monosomy 5P	Small hand, Microretrognathia, Finger syndactyly, Inguinal hernia, Joint hypermobility, Abnormali...	ORPHA:281
Charlie M Syndrome	Finger syndactyly, Tooth agenesis, Micrognathia, Narrow mouth, Abnormal metacarpal morphology, Tr...	ORPHA:1406
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ...	OMIM:115197
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Schwartz-Jampel Syndrome	Arthrogryposis multiplex congenita, Elbow dislocation, Pursed lips, Genu valgum, Narrow mouth, Mi...	ORPHA:800
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Short distal phalanx of finger, Abnormality of the dentition, Microretrognathia, Limitation of jo...	ORPHA:2994
Al Kaissi Syndrome	High, narrow palate, Small hand, Clinodactyly, Long philtrum, Macrodontia, Thin upper lip vermili...	OMIM:617694
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Abn...	ORPHA:93360
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Bone pain, Enlargement...	OMIM:300554
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Cardiomegaly, Thin upper lip vermilion, Enamel hypoplasia, Syndactyly	OMIM:613576
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Bifid uvula, Short thumb, Cleft upper lip, Retrognathia, Tetralogy of Fa...	OMIM:612561
Antley-Bixler Syndrome	Hypoplasia of the zygomatic bone, Long philtrum, Camptodactyly of finger, Delayed cranial suture ...	ORPHA:83
Radio-Renal Syndrome	High, narrow palate, Chylothorax, Micromelia, Downturned corners of mouth, Retrognathia, Microgna...	ORPHA:3015
Holzgreve Syndrome	Hypoplastic left heart, Hand polydactyly, Cleft palate, Cleft upper lip	OMIM:236110
Kaposiform Lymphangiomatosis	Epistaxis, Subconjunctival hemorrhage, Fractures of the long bones, Osteolysis, Hepatosplenomegal...	ORPHA:464329
Larsen-Like Syndrome	Dental malocclusion, Joint dislocation, Delayed skeletal maturation, Radial deviation of the 4th ...	OMIM:608545
Congenital Varicella Syndrome	Atypical scarring of skin, Micromelia	ORPHA:291
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Sandal gap, Widely spaced te...	OMIM:617102
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Abnormal femur morphology, Reduced bone miner...	ORPHA:1508
Crisponi/Cold-Induced Sweating Syndrome 1	Carious teeth, Radial deviation of finger, Long philtrum, Retrognathia, Elbow flexion contracture...	OMIM:272430
Mulibrey Nanism	Microglossia, Dental malocclusion, Dental crowding, Congestive heart failure, Ascites, Single tra...	OMIM:253250
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Lobulated tongue, M...	OMIM:258860
Loeys-Dietz Syndrome 5	Decreased muscle mass, Cleft soft palate, Mitral regurgitation, Reduced subcutaneous adipose tiss...	OMIM:615582
Temtamy Preaxial Brachydactyly Syndrome	Talon cusp, Plagiocephaly, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar syn...	OMIM:605282
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal femoral torsion, Abnormal right ventricle morphology, Tibial torsion, Long foot, Long ha...	ORPHA:500095
Chromosome 2Q37 Deletion Syndrome	Short toe, Type E brachydactyly, Malar flattening, Brachycephaly, Arrhythmia, Subvalvular aortic ...	OMIM:600430
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Hip contra...	OMIM:210710
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap...	OMIM:276820
Chromosome 13Q33-Q34 Deletion Syndrome	Overlapping toe, Micrognathia, Open mouth, Irregular dentition, Talipes equinovarus, Small thenar...	OMIM:619148
Adams-Oliver Syndrome 6	Foot oligodactyly, Tricuspid regurgitation, Calvarial skull defect, Portal hypertension, Splenome...	OMIM:616589
Mucolipidosis Type Iii	Craniofacial hyperostosis, Abnormal heart valve morphology, Abnormal hip bone morphology, Promine...	ORPHA:577
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Dental crowding, Clinodactyly, Long philtrum, Palpebral edema, Hepatosplenomegaly, Thickened calv...	ORPHA:397709
Spinocerebellar Ataxia, Autosomal Recessive 20	Dental crowding, Clinodactyly, Delayed eruption of teeth, Long philtrum, Splenomegaly, Talipes eq...	OMIM:616354
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg...	ORPHA:1159
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Lymphedema, Malar flattening, Fibular hypopla...	ORPHA:3144
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Microglossia, Short thumb, Retrognathia, Microgna...	OMIM:227270
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Hypoplasia of the maxilla, Ankle swelling, Wrist swelling, Carpal osteolysis, Metacar...	OMIM:166300
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Cone-shaped epiphyses of the middle phalanges of the hand, Short distal phalanx of finger, Distal...	OMIM:606895
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Dextrotransposition of the great arteries, Ventricular septal defect, Ankle clonus, Pes valgus, B...	OMIM:619995
Solitary Bone Cyst	Abnormal ilium morphology, Abnormal tibia morphology, Lytic defects of the radius, Pathologic fra...	ORPHA:83468
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Lower limb asymmetry, Abnormal heart morphology, Clinodactyly of the 5th finger, Frontal bossing,...	ORPHA:231147
Congenital Vertical Talus	Abnormality of the foot musculature, Ankle pain, Equinus calcaneus, Pes valgus, Pes planus, Lower...	ORPHA:178382
Arthrogryposis, Distal, Type 2E	Joint contracture of the hand, Foot joint contracture, Micrognathia, Narrow mouth, Talipes equino...	OMIM:121070
Epidermolytic Palmoplantar Keratoderma	Interphalangeal joint contracture of finger, Diffuse palmoplantar hyperkeratosis, Palmoplantar hy...	ORPHA:2199
Caffey Disease	Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermobility, Calvarial hypero...	OMIM:114000
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Joint contracture of the hand, Pes planus, Flattened epiphysis, High palate, Dislocated radial he...	OMIM:612350
Wieacker-Wolff Syndrome, Female-Restricted	Radial deviation of the hand, Microretrognathia, Downturned corners of mouth, Long philtrum, Hip ...	OMIM:301041
Metaphyseal Chondrodysplasia, Schmid Type	Radial metaphyseal irregularity, Genu varum, Femoral bowing, Short long bone, Metaphyseal irregul...	ORPHA:174
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Palmoplantar keratoderma, Cleft lip, Ventricular bigeminy, Tricuspid regu...	OMIM:620519
Suleiman-El-Hattab Syndrome	Microretrognathia, Clinodactyly, Downturned corners of mouth, Long philtrum, Thick lower lip verm...	OMIM:618950
Pfeiffer Syndrome Type 1	Broad thumb, Toe syndactyly, Finger syndactyly, Bicoronal synostosis, Aplasia/Hypoplasia of the t...	ORPHA:93258
Neu-Laxova Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Osteomalacia, Micrognathia, Broad foot, Ev...	ORPHA:2671
Roifman Syndrome	Short toe, Downturned corners of mouth, Long philtrum, Irregular femoral epiphysis, Splenomegaly,...	OMIM:616651
Pallister-Hall Syndrome	Broad thumb, Toe syndactyly, Radial bowing, Natal tooth, Polydactyly affecting the 4th finger, Ov...	ORPHA:672
Schisis Association	Unilateral cleft lip, Micromelia, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Omp...	ORPHA:63862
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Malar flattening, Abnormal palate morphology, Turricephaly, Brachyceph...	ORPHA:93262
14Q24.1Q24.3 Microdeletion Syndrome	Short thumb, Long philtrum, Abnormal heart morphology, Intestinal malrotation, Limited elbow exte...	ORPHA:401935
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Short metacarpal, ...	OMIM:611263
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Long philtrum, Frontal bossing, Delayed skeletal maturation, Umbilical hernia, Malar flattening, ...	ORPHA:1292
Weaver Syndrome	Broad thumb, Finger syndactyly, Sandal gap, Camptodactyly of finger, Long philtrum, Retrognathia,...	ORPHA:3447
Arthrogryposis, Distal, Type 11

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