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Gene: Evc MGI:1890596

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

EvC ciliary complex subunit 1

Synonyms:

Ellis van Creveld gene syndrome

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 Evc 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 Evc (4 diseases)
Human diseases predicted to be associated with Evc (979 diseases)

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

Disease	Matching phenotypes	Source
Ellis-Van Creveld Syndrome	Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Natal tooth, Delayed erupti...	OMIM:225500
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Short distal phalanx of finger, Abnormal pelvic girdle bone morp...	ORPHA:289
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Small hand, Conical tooth, Overlapping fingers, Solitary median max...	ORPHA:952
Weyers Acrofacial Dysostosis	Conical tooth, Postaxial foot polydactyly, Solitary median maxillary central incisor, Brachydacty...	OMIM:193530

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

Disease	Matching phenotypes	Source
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Malar flattening, Short 4th ...	OMIM:118651
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino...	OMIM:613330
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal...	OMIM:200700
Hypochondroplasia	Flared metaphysis, Lumbar hyperlordosis, Trident hand, Malar flattening, Aplasia/hypoplasia of th...	OMIM:146000
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Aplasia/hypoplasia involving bones of the extremities, Platyspondyly, Arthralgia of the hip, Broa...	ORPHA:1856
Kyphomelic Dysplasia	Narrow chest, Limitation of joint mobility, Micromelia, Abnormal form of the vertebral bodies, Jo...	ORPHA:1801
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal foot morphology, Short tubular...	ORPHA:85184
Chondrodysplasia, Blomstrand Type	Abnormal vertebral morphology, Narrow chest, Micromelia, Flared metaphysis, Advanced tarsal ossif...	OMIM:215045
Langer Mesomelic Dysplasia	Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni...	OMIM:249700
Thoracomelic Dysplasia	Abnormal pelvic girdle bone morphology, Narrow chest, Elbow dislocation, Genu valgum, Bell-shaped...	ORPHA:1803
Schneckenbecken Dysplasia	Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,...	OMIM:269250
Rhizomelic Dysplasia, Ain-Naz Type	Platyspondyly, Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short hu...	OMIM:619598
Achondrogenesis Type 2	Hypoplastic ilia, Narrow chest, Unossified sacrum, Micromelia, Absent vertebral body mineralizati...	ORPHA:93296
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Bell-shaped thorax, Narrow vertebral interpedicular distance, Sh...	OMIM:602557
Fibrochondrogenesis 2	Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Micrognathia, Bell-sha...	OMIM:614524
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula...	ORPHA:168549
Leri-Weill Dyschondrosteosis	Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ...	OMIM:127300
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Thin ribs, Platyspondyly, Multiple joint dislocation, Short femoral neck, Knee dislocation, Joint...	OMIM:618395
3M Syndrome	Thin ribs, Decreased fertility, Short neck, Everted lower lip vermilion, Hypoplastic ischia, Abno...	ORPHA:2616
Atelosteogenesis, Type I	Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax, Neonatal dea...	OMIM:108720
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ...	OMIM:603546
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic i...	OMIM:151210
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Short neck, Flat acetabular roo...	OMIM:271700
Acrodysostosis	Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphol...	ORPHA:950
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Narrow chest, Lumbar platyspondyly, Coarse metaphyseal trabecularization, Thoracic platyspondyly,...	OMIM:618961
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Microglossia, Short thumb, Retrognathia, Microgna...	OMIM:227270
Fibrochondrogenesis 1	Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Nar...	OMIM:228520
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,...	ORPHA:174
Brachydactyly Type A1	Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal...	ORPHA:93388
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Genu valgum, Deformed hum...	ORPHA:2831
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Narrow mouth, Fibular hypoplasia, Su...	OMIM:612447
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Epiphyseal stippling, Short humerus, Short femur	OMIM:600121
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos...	OMIM:112910
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Cranioectodermal Dysplasia	Short distal phalanx of finger, Rhizomelia, Abnormality of the dentition, Narrow chest, Finger sy...	ORPHA:1515
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S...	OMIM:201250
Dysosteosclerosis	Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Increased interverte...	OMIM:224300
Kyphomelic Dysplasia	Limitation of joint mobility, Radial bowing, Micrognathia, Talipes equinovarus, Anterior rib cupp...	OMIM:211350
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microretrognathia, Microglossia, Short tibia, Short thumb, Sandal gap, Radial c...	ORPHA:1972
Metaphyseal Chondrodysplasia, Spahr Type	Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Scoliosis, Reduced bo...	ORPHA:2501
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Genu valgum, Micrognath...	ORPHA:56304
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Lethal Kniest-Like Dysplasia	Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Abnormal cart...	ORPHA:2347
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal sacrum morpholo...	ORPHA:1988
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Micromelia, Flar...	OMIM:187601
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda...	OMIM:617405
Syndactyly Type 4	Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact...	ORPHA:93405
Three M Syndrome 1	Short 5th finger, Joint dislocation, Slender long bone, Long philtrum, Thick lower lip vermilion,...	OMIM:273750
Rhizomelic Dysplasia, Patterson-Lowry Type	Platyspondyly, Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short...	OMIM:601438
Cenani-Lenz Syndactyly Syndrome	Broad hallux, Micrognathia, Malar flattening, Radioulnar synostosis, Hypodontia, Enamel hypoplasi...	OMIM:212780
Achondroplasia	Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Thoracic hypoplasia, Femoral...	OMIM:100800
Atelosteogenesis, Type Ii	Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia...	OMIM:256050
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloc...	ORPHA:3258
Achondrogenesis, Type Ib	Hypoplastic ilia, Narrow chest, Micromelia, Absent or minimally ossified vertebral bodies, Malar ...	OMIM:600972
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Metaphyseal cupping, Narrow chest, Micromelia, Wide distal femor...	OMIM:613320
Achondrogenesis, Type Ia	Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe...	OMIM:200600
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Delayed ossification of pubic rami, Lumbar h...	OMIM:602471
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morpholog...	ORPHA:1842
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Squared...	ORPHA:93352
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna...	OMIM:215140
Multiple Synostoses Syndrome 1	Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndactyly, Proximal/middle sympha...	OMIM:186500
Ulna Hypoplasia-Intellectual Disability Syndrome	Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Delayed cranial...	ORPHA:2249
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Long philtrum, Limited elbow flexion, Rhizomelic arm sh...	OMIM:164745
Acrofacial Dysostosis Syndrome Of Rodriguez	Absent forearm, Clinodactyly, Short tibia, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs ...	OMIM:201170
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Genu valgum, Broad foot, Carpal bone hypoplasia, Metaphyseal dysplasia, Broad phalanx, Short foot...	OMIM:250420
Osteogenesis Imperfecta	Thin ribs, Carious teeth, Abnormal tibia morphology, Enlarged vertebral pedicles, Micrognathia, G...	ORPHA:666
Hypophosphatasia, Infantile	Platyspondyly, Abnormality of the dentition, Metaphyseal cupping, Rachitic rosary, Unossified ver...	OMIM:241500
Achondrogenesis, Type Ii	Microretrognathia, Long philtrum, Abnormal foot morphology, Short tubular bones of the hand, Hypo...	OMIM:200610
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foot morphology, Aplasia/hy...	ORPHA:75508
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Narrow chest, Joint contracture of the hand, Limitation of joint mobility, Micromelia, Equinovaru...	OMIM:224400
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Platyspondyly, Radial bowing, Micromelia, Preaxial polydactyly, Thoracic hypoplasia, Vertebral we...	OMIM:617866
Spondyloepiphyseal Dysplasia Congenita	Dysplasia of the femoral head, Genu valgum, Micrognathia, Barrel-shaped chest, Limited elbow move...	ORPHA:94068
Rhizomelic Chondrodysplasia Punctata, Type 5	Metaphyseal cupping, Contractures of the large joints, Short femoral neck, Pes cavus, Short humer...	OMIM:616716
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Thoracic hypopla...	OMIM:187600
Thoracolaryngopelvic Dysplasia	Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta...	OMIM:187760
Acro-Renal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Short neck,...	ORPHA:958
Osteogenesis Imperfecta, Type X	Thin ribs, Genu valgum, Micrognathia, Fibular bowing, Bowing of the long bones, Osteopenia, Thora...	OMIM:613848
Mietens-Weber Syndrome	Forearm undergrowth, Elbow flexion contracture, Pes planus, Dislocated radial head, Absent proxim...	OMIM:249600
Fetal Akinesia Deformation Sequence 4	Retrognathia, 11 pairs of ribs, Micrognathia, Neonatal death, Short neck, Camptodactyly, High pal...	OMIM:618393
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Structural foot deformity, Finger syndactyly, Short...	ORPHA:93323
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Platyspondyly, Osteopenia, Unilateral cleft lip, Flared metaphysis, Thoracic hypoplasia, Decrease...	OMIM:616897
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
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Short nec...	OMIM:271665
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti...	ORPHA:2634
Van Bogaert-Hozay Syndrome	Tooth malposition, Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hy...	OMIM:277150
48,Xxyy Syndrome	Carious teeth, Elbow dislocation, Open bite, Talipes, Radioulnar synostosis, Pes planus, Motor st...	ORPHA:10
Ophthalmoplegia, External, With Rib And Vertebral Anomalies	Pectus carinatum, Short ribs, Missing ribs, Pseudoarthrosis, Pectus excavatum, Scoliosis	OMIM:618155
Poland Syndrome	Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Rib fusion, Sprengel anomaly, ...	OMIM:173800
Fibrochondrogenesis	Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal diaphysis morphology, Camptodactyly of f...	ORPHA:2021
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Talipes equinovarus, Cone-shaped epiphysis, Thoracic hypoplasia, Hamartoma of tongue, Femoral bow...	OMIM:613091
Ulnar Hypoplasia With Impaired Intellectual Development	Talipes equinovarus, Bilateral ulnar hypoplasia, Limited elbow movement, Limitation of knee mobility	OMIM:276821
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
Spondylometaphyseal Dysplasia, Corner Fracture Type	Pectus carinatum, Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of meta...	OMIM:184255
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Short 5th finger, Postaxial oligodactyly, Malar flattening, Talipes equinovarus, Brachydactyly, A...	ORPHA:52056
Spondylometaphyseal Dysplasia, Type A4	Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,...	OMIM:609052
Pyle Disease	Platyspondyly, Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persistence of...	OMIM:265900
Autosomal Dominant Omodysplasia	Rhizomelia, Short 1st metacarpal, Elbow dislocation, Long philtrum, Micrognathia, Malar flattenin...	ORPHA:93328
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Narrow chest, Micromelia, Long philtrum, Thoracic hypoplasia, Lateral clavicle ...	OMIM:617895
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Ectrodactyly, Long philtrum, Radial club hand, Abnormal dental morphology, Abnormality of the wri...	ORPHA:2878
Ulnar Hypoplasia	Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio...	OMIM:191440
Prieto Syndrome	Abnormality of the dentition, Radial deviation of finger, Clinodactyly, Retrognathia, 11 pairs of...	OMIM:309610
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hypoplastic ilia, Narrow chest, Anisospondyly, Limitation of joint mobility, Micromelia, Broad lo...	ORPHA:1865
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Scoliosis, Stippled calcification...	OMIM:222765
Clark-Baraitser syndrome	Genu recurvatum, Scoliosis, Exaggerated median tongue furrow, Thick lower lip vermilion, Genu val...	OMIM:300602
Anonychia-Microcephaly Syndrome	Clinodactyly of the 5th finger, Carious teeth, Abnormality of the dentition, Bilateral single tra...	ORPHA:1094
Spondyloepimetaphyseal Dysplasia, Irapa Type	Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,...	ORPHA:93351
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Genu valgum, Micrognathia, Hip contracture, Pes planus, Flattened epiphysis, High ...	OMIM:618363
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Genu varu...	OMIM:271510
Orofaciodigital Syndrome Type 10	Short tibia, Fibular aplasia, Micrognathia, Cleft soft palate, Short neck, Tarsal synostosis, Mes...	ORPHA:2756
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Hypoplastic scapulae, Narrow chest, Micromelia, Micrognathia, Femoral bowing, Dumbbel...	ORPHA:440354
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla...	OMIM:147891
Seckel Syndrome 4	11 pairs of ribs, Retrognathia, Steep acetabular roof	OMIM:613676
Microcephaly-Micromelia Syndrome	Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Narrow mouth, Hu...	OMIM:251230
Acromesomelic Dysplasia 1	Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ...	OMIM:602875
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ...	ORPHA:2491
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Barrel-shaped chest, ...	OMIM:143095
Temtamy Preaxial Brachydactyly Syndrome	Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar...	ORPHA:363417
Bent Bone Dysplasia Syndrome 2	Thin ribs, Osteopenia, Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, ...	OMIM:620076
Pde4D Haploinsufficiency Syndrome	Micrognathia, Broad foot, Pes planus, Broad phalanx, Bilateral coxa valga, Short metacarpal, Irre...	ORPHA:439822
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ...	ORPHA:2141
Heart-Hand Syndrome Type 2	Asymmetry of the thorax, Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal...	ORPHA:1350
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Natal tooth, Distal shortening of limbs, Micrognathia, Protruding tongue, B...	ORPHA:50945
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Greenberg Dysplasia	Platyspondyly, Rhizomelia, Narrow chest, Micromelia, Abnormal pelvis bone ossification, Abnormal ...	ORPHA:1426
Mesomelic Limb Shortening And Bowing	Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm,...	OMIM:249710
Atelosteogenesis Type I	Platyspondyly, Rhizomelia, Narrow chest, Joint dislocation, Thoracic hypoplasia, Absent or minima...	ORPHA:1190
Rubinstein-Taybi Syndrome 2	Narrow palate, Broad thumb, Carious teeth, Prominent fingertip pads, Short 5th toe, Broad hallux,...	OMIM:613684
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Short first metatarsal, Micrognathia, Epiphyseal stippling, Ulnar bowing, P...	OMIM:619135
Metatropic Dysplasia	Narrow chest, Scoliosis, Hypoplastic cervical vertebrae, Micromelia, Coarse metaphyseal trabecula...	ORPHA:2635
Ellis-Van Creveld Syndrome	Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Natal tooth, Delayed erupti...	OMIM:225500
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor...	ORPHA:2790
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Arthralgia of the hip, Abnor...	ORPHA:166002
Pallister-Hall-Like Syndrome	Toe syndactyly, Postaxial foot polydactyly, Micromelia, Microglossia, Micrognathia, Short ribs, M...	OMIM:241800
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Van Den Ende-Gupta Syndrome	Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Mi...	OMIM:600920
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Thoracic hypoplasia, Thoracic dysplasia, Genu valgum, Bell-shaped thorax, Short ribs, Orofacial c...	OMIM:615630
Odontochondrodysplasia 1	Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac...	OMIM:184260
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia, Hypoplasia of the...	ORPHA:2256
Intellectual Developmental Disorder, Autosomal Recessive 35	Clinodactyly, Downturned corners of mouth, Long philtrum, Micrognathia, Malar flattening, Thin up...	OMIM:615162
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Clinodactyly, Long philtrum, Micrognathia, Malar flattening, Thin upper lip vermilion, Hypoplasia...	ORPHA:357175
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal epiphysis morphology, Retrognathia, Elbow dislocation, Camptodactyly of finger, Abnormal...	ORPHA:2631
Myhre Syndrome	Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Overlapping toe, Enlarged ver...	OMIM:139210
Trochlea Of The Humerus, Aplasia Of	Cleft palate, Short humerus	OMIM:191000
Metaphyseal Dysplasia Without Hypotrichosis	Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Abnormality of the ve...	OMIM:250460
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Talipes equinovarus, Short hallux, Small...	OMIM:268305
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal form of the vertebral ...	ORPHA:3144
Chondrodysplasia With Joint Dislocations, Gpapp Type	Genu valgum, Micrognathia, Narrow mouth, Intervertebral space narrowing, Radial head subluxation,...	OMIM:614078
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Micromelia, Metaphyseal spurs, Thoracic hypoplasia, Irregular epiphyses, Posterior...	OMIM:608728
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Pectus carinatum, Osteopenia, Short iliac bones, Flattened proximal radial epiphys...	OMIM:271530
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Short tibia, Bell-shaped thorax, Flat acetabular roof, Cleft lip, Hamartoma of tongu...	OMIM:616300
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Cervical ribs, Fibular aplasia, Mi...	ORPHA:3320
Acromesomelic Dysplasia, Maroteaux Type	Kyphosis, Abnormal form of the vertebral bodies, Vertebral wedging, Joint stiffness, Joint hyperm...	ORPHA:40
48,Xxxy Syndrome	Carious teeth, Elbow dislocation, Open bite, Talipes equinovarus, Radioulnar synostosis, Pes plan...	ORPHA:96263
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Pes planus, Beaking of vertebral bodies, Broad toe, Flat acetabular roof,...	OMIM:609616
Acheiropody	Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C...	OMIM:200500
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome	Craniosynostosis, Orofacial cleft, Forearm undergrowth, Lower limb undergrowth	OMIM:218650
Shox-Related Short Stature	Micrognathia, Genu valgum, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, ...	ORPHA:314795
W Syndrome	Upper lip pit, Broad uvula, Radial bowing, Clinodactyly, Elbow dislocation, Pes cavus, Submucous ...	ORPHA:2804
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Missing ribs, Abnormal vertebral segmentation and ...	ORPHA:66637
Acrocapitofemoral Dysplasia	Pectus carinatum, Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck ...	ORPHA:63446
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Diastrophic Dysplasia	Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Short finger, Irreg...	OMIM:222600
Stuve-Wiedemann Syndrome 1	Thin ribs, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal rarefaction, Talipe...	OMIM:601559
Orofaciodigital Syndrome Viii	Short tibia, Polydactyly, Median cleft upper lip, High palate, Cleft palate, Syndactyly	OMIM:300484
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Thoracic hemiv...	OMIM:268310
Acrodysostosis 1 With Or Without Hormone Resistance	Long hallux, Narrow vertebral interpedicular distance, Calvarial hyperostosis, Dislocated radial ...	OMIM:101800
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Broad phalanx, Short phalanx of finger, Short metacarpal, Broad metacarpals	OMIM:618724
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ...	OMIM:250220
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Tooth agenesis, Abnormal shoulder morphology, Micrognathia, Long thorax, Abnormal palate morpholo...	ORPHA:1277
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Sandal gap, Butterfly vertebrae, Short humerus, Short ribs, Thin upper l...	OMIM:607143
49,Xxxxy Syndrome	Carious teeth, Elbow dislocation, Open bite, Overfriendliness, Talipes equinovarus, Radioulnar sy...	ORPHA:96264
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Micrognathia, So...	OMIM:602418
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Limitation of joint mobility, Micromelia, Flared, irregular rib ends, Coxa vara, S...	ORPHA:168555
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Platyspondyly, Broad femoral neck, Arthralgia of the hip, Flared femoral me...	OMIM:609324
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular carpal bones, Spon...	OMIM:252600
Robin Sequence-Oligodactyly Syndrome	Finger aplasia, Abnormality of the dentition, Abnormal form of the vertebral bodies, Micrognathia...	ORPHA:3104
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Di...	OMIM:300863
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s...	ORPHA:2632
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Fibular aplasia, Micrognathia, Ta...	ORPHA:56305
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Bell-shaped thorax, Micrognathia, Thick anterior alveol...	ORPHA:2839
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Limitation of joint mobility, Finger syndac...	ORPHA:3329
Temtamy Preaxial Brachydactyly Syndrome	Talon cusp, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep p...	OMIM:605282
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra...	OMIM:177170
Lethal Recessive Chondrodysplasia	Narrow chest, Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized os...	ORPHA:1423
Melnick-Needles Syndrome	Tooth malposition, Hypoplastic scapulae, Delayed cranial suture closure, Genu valgum, Micrognathi...	OMIM:309350
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Short tibia, Micrognathia, Neonatal death, Short neck, Cleft lip, Hamartoma of tongu...	OMIM:617925
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Abnormal sternum morphology, S...	ORPHA:166016
Osseous Heteroplasia, Progressive	Ankylosis, Limb undergrowth, Ectopic ossification in muscle tissue	OMIM:166350
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture...	ORPHA:1145
Amelogenesis Imperfecta	Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior...	ORPHA:88661
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Limited elb...	ORPHA:79106
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Bowing of the long bones, Abnorm...	ORPHA:628
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal form of the vertebral bod...	ORPHA:429
Pyknoachondrogenesis	Abnormal intramembranous ossification, Craniofacial hyperostosis, Unossified sacrum, Short iliac ...	ORPHA:3003
Metaphyseal Chondrodysplasia, Jansen Type	Tooth malposition, Metaphyseal cupping, Osteopenia, Pathologic fracture, Micrognathia, Knee flexi...	OMIM:156400
Ulnar Hypoplasia-Split Foot Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna, Split foot	ORPHA:1122
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta...	OMIM:602111
Acrorenal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula...	OMIM:200980
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Arms, Malformation Of	Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna	OMIM:107900
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l...	OMIM:147750
Meier-Gorlin Syndrome 1	Thin ribs, Small hand, Joint contracture of the hand, Elbow dislocation, Cutaneous finger syndact...	OMIM:224690
Weaver Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe...	OMIM:277590
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ...	OMIM:271650
Dental Anomalies And Short Stature	Platyspondyly, Hypoplasia of the maxilla, Widely spaced teeth, Herniation of intervertebral nucle...	OMIM:601216
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Abnormal joint...	ORPHA:1427
Hypoplastic Femurs And Pelvis	Hypoplastic pelvis, Short femur	OMIM:619545
Ulna Metaphyseal Dysplasia Syndrome	Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bo...	ORPHA:1837
Cranioectodermal Dysplasia 4	Short distal phalanx of finger, Broad distal phalanx of finger, Narrow chest, Broad phalanx of th...	OMIM:614378
Cartilage-Hair Hypoplasia	Asymmetry of the thorax, Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid proce...	OMIM:250250
Odontochondrodysplasia	Platyspondyly, Dentinogenesis imperfecta, Narrow chest, Cone-shaped epiphysis, Square pelvis bone...	ORPHA:166272
Mietens Syndrome	Elbow dislocation, Avascular necrosis of the capital femoral epiphysis, Joint stiffness, Talipes,...	ORPHA:2557
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of...	ORPHA:1836
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral...	ORPHA:1802
Kbg Syndrome	Radial deviation of finger, Long philtrum, Cervical ribs, Ulnar deviation of the 2nd finger, Macr...	OMIM:148050
Seckel Syndrome 1	Ivory epiphyses, Micrognathia, Talipes, Pes planus, High palate, Dislocated radial head, Cone-sha...	OMIM:210600
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Sandwich appearance of vertebral bodies, Sclerosis of skull base, Fe...	OMIM:602080
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
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Broad femoral neck, Ir...	OMIM:132400
Postaxial Acrofacial Dysostosis	Finger syndactyly, Camptodactyly of finger, Micrognathia, Malar flattening, Hypoplasia of the uln...	ORPHA:246
Thanatophoric Dysplasia Type 1	Platyspondyly, Hypoplastic ilia, Narrow chest, Micromelia, Joint stiffness, Femoral bowing, Bowin...	ORPHA:1860
Acromicric Dysplasia	Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long philtrum, Thick lower lip vermilio...	OMIM:102370
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Finger clinodactyly, Widely spaced teeth, Periapical tooth abscess, Enamel hy...	ORPHA:3352
Intellectual Disability, Birk-Barel Type	High, narrow palate, Foot joint contracture, Micrognathia, Open mouth, Tented upper lip vermilion...	ORPHA:166108
Pelviscapular Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac...	ORPHA:93333
Ophthalmomandibulomelic Dysplasia	Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ...	ORPHA:2741
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Long fo...	ORPHA:2563
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Dental crowding, Sandal gap, Short toe, Long philtrum, Short 5th metacarpal, 11 pairs...	OMIM:617877
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, C...	OMIM:113000
Microphthalmia With Limb Anomalies	Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, F...	ORPHA:1106
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Narrow chest, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Shor...	OMIM:611263
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Platyspondyly, Vertebral wedging, Hypoplasia of the capital femoral epiphys...	OMIM:617719
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Lobulated tongue, M...	OMIM:258860
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Enlarged metaphyses, Platyspondyly, Lower-limb metaphyseal irregularity, Irregular femoral epiphy...	OMIM:618728
Juberg-Hayward Syndrome	Abnormal vertebral morphology, Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar ...	ORPHA:2319
Cerebrocostomandibular Syndrome	Carious teeth, Micrognathia, Cleft soft palate, Bell-shaped thorax, Short hard palate, High palat...	OMIM:117650
Metaphyseal Anadysplasia	Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho...	ORPHA:1040
Alagille Syndrome	Short distal phalanx of finger, Abnormal form of the vertebral bodies, Micrognathia, Clinodactyly...	ORPHA:52
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Natal tooth, Broad foot, Neonatal death, Short neck, Short foot, Short toe,...	OMIM:269860
Poland Syndrome	Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the thumb...	ORPHA:2911
Ophthalmomandibulomelic Dysplasia	Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Tempor...	OMIM:164900
Filippi Syndrome	2-4 toe syndactyly, Finger clinodactyly, Serrated incisors, Abnormal dental morphology, Single tr...	OMIM:272440
Codas Syndrome	Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Scoliosis, Dela...	OMIM:600373
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Tooth malposition, Bifid femur, Carious teeth, Failure of eruption of permanen...	ORPHA:2769
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Thoracic hypoplasia, Lumbar hyperlordosis, Limited elbow extension, Limb undergrowth, Pectus exca...	ORPHA:156728
Dentin Dysplasia, Type I	Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration...	OMIM:125400
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Kyphosis, Increased bone mineral density, Barrel-shaped chest, Short humerus, Bowing ...	OMIM:239000
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre...	ORPHA:1788
Thoracic Dysostosis, Isolated	Pectus excavatum, Bell-shaped thorax, Short ribs	OMIM:187750
Cranioectodermal Dysplasia 1	Clinodactyly, Anodontia, Broad distal phalanges of all fingers, Everted lower lip vermilion, Broa...	OMIM:218330
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Nail-Patella Syndrome	Patellar aplasia, Talipes equinovarus, Pes planus, Disproportionate prominence of the femoral med...	OMIM:161200
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Osteopenia, Rhizomelia, Microretrognathia, Narrow chest, Tooth agenesis, Decreased...	OMIM:616229
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Craniometadiaphyseal Dysplasia	Osteopenia, Carious teeth, Natal tooth, Absent paranasal sinuses, Flared metaphysis, Broad long b...	OMIM:269300
Anauxetic Dysplasia 2	Posterior wedging of vertebral bodies, Cervical spine instability, Hypoplasia of the femoral head...	OMIM:617396
Intellectual Disability And Myopathy Syndrome	Congenital hip dislocation, Scoliosis, Dental malocclusion, Lumbar hyperlordosis, Limited elbow e...	OMIM:619719
Otopalatodigital Syndrome, Type Ii	Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia...	OMIM:304120
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly, Polysyndactyly of hallux, Pectus carinatum, Microglossia, Narrow chest, Postaxial ...	OMIM:263520
Basal Cell Nevus Syndrome 1	Palmar pits, Short distal phalanx of the thumb, Sprengel anomaly, Plantar pits, Vertebral wedging...	OMIM:109400
Diamond-Blackfan Anemia 11	Finger aplasia, Absent thumb, Unilateral radial aplasia, Bilateral cleft palate, Radioulnar synos...	OMIM:614900
Rhizomelic Chondrodysplasia Punctata	Abnormality of the dentition, Rhizomelia, Abnormal epiphysis morphology, Limitation of joint mobi...	ORPHA:177
Boomerang Dysplasia	Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology...	ORPHA:1263
Upper Limb Mesomelic Dysplasia	Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna	ORPHA:2497
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Spondyloepiphyseal Dysplasia, Stanescu Type	Platyspondyly, Hypoplastic ilia, Vertebral wedging, Stiff neck, Joint stiffness, Internal tibial ...	OMIM:616583
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Limitation of joint mo...	ORPHA:3098
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul...	ORPHA:1570
Thoracomelic Dysplasia	Bell-shaped thorax, Short ribs	OMIM:273740
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met...	OMIM:184253
Autosomal Dominant Spondylocostal Dysostosis	Short thorax, Abnormal sacrum morphology, Vertebral segmentation defect, Missing ribs, Short neck...	ORPHA:1797
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Abnormal morphology ...	ORPHA:3269
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
Autosomal Recessive Omodysplasia	Rhizomelia, Micromelia, Long philtrum, Elbow dislocation, Pterygium, Micrognathia, Abnormal femur...	ORPHA:93329
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Conical tooth, Short thumb, Cleft upper lip, Abnormal foot morphology...	OMIM:263750
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis...	OMIM:208500
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Limited hip movement, Dysplasia of the femoral head, Hip contracture, Abnormality of the knee, Pr...	ORPHA:99642
Ruvalcaba Syndrome	Small hand, Narrow chest, Dental crowding, Micromelia, Kyphosis, Limited elbow extension, Short f...	OMIM:180870
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Cleft upper lip, Foot oligodactyly, Amelia, Bilateral cleft palate, Bilateral cleft lip, Scoliosi...	OMIM:601357
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Micrognathia, Genu valgum, Talipes equino...	OMIM:271640
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl...	OMIM:607078
Seckel Syndrome 5	Retrognathia, Selective tooth agenesis, 11 pairs of ribs, Micrognathia, Oligodontia, Hypodontia, ...	OMIM:613823
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Aplasia/hypoplasia involving bones of the extremities, Abnormal vertebral morphology, Platyspondy...	ORPHA:93346
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Dental malocclusion, Slender long bone, Proxi...	OMIM:616202
Marshall Syndrome	Radial bowing, Thick upper lip vermilion, Micrognathia, Absent frontal sinuses, Knee osteoarthrit...	OMIM:154780
Rothmund-Thomson Syndrome	Carious teeth, Aplasia/Hypoplasia of the patella, Osteopenia, Aplasia/Hypoplasia of the radius, I...	ORPHA:2909
Atelosteogenesis, Type Iii	Rhizomelia, Tombstone-shaped proximal phalanges, Hypoplasia of the maxilla, Radial bowing, Sandal...	OMIM:108721
Orofaciodigital Syndrome Type 2	Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Micrognathia, Broad fi...	ORPHA:2751
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Narrow chest, Lateral clavicle hook, Preaxial polydactyly, Thoracic dysplasia, Acetabular spurs, ...	OMIM:615503
Cohen Syndrome	High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill...	OMIM:216550
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Oral-pharyngeal dysphagia, Misalignment of incisors, 11 pairs of ribs, Bicoronal...	OMIM:619184
Distal Duplication 5Q	Carious teeth, Absent thumb, Long philtrum, Micrognathia, Narrow mouth, Hypoplasia of the ulna, H...	ORPHA:96097
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,...	OMIM:226900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Abnormality of the dentition, Osteopenia, Downturned corners of mout...	OMIM:615398
Multiple Epiphyseal Dysplasia Type 1	Delayed epiphyseal ossification, Arthralgia of the hip, Limitation of joint mobility, Avascular n...	ORPHA:93308
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver...	ORPHA:239
Dysspondyloenchondromatosis	Platyspondyly, Anisospondyly, Scoliosis, Lower limb asymmetry, Joint dislocation, Genu valgum, Me...	ORPHA:85198
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Talipes equinovaru...	OMIM:134780
Osteogenesis Imperfecta, Type Ii	Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long...	OMIM:166210
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ...	ORPHA:96334
Occipital Horn Syndrome	Genu valgum, Pes planus, High palate, Pectus carinatum, Broad clavicles, Limited elbow extension,...	OMIM:304150
Osteogenesis Imperfecta, Type Iii	Thin ribs, Dentinogenesis imperfecta, Kyphosis, Slender long bone, Micrognathia, Protrusio acetab...	OMIM:259420
Omodysplasia 1	Axillary pterygium, Rhizomelia, Popliteal pterygium, Short tibia, Limited knee flexion/extension,...	OMIM:258315
Steinfeld Syndrome	Abnormal vertebral morphology, Bifid uvula, Abnormality of the vertebral column, Median cleft pal...	OMIM:184705
Orofaciodigital Syndrome Ix	Abnormality of the dentition, Toe syndactyly, Short tibia, Median cleft upper lip, Hand polydacty...	OMIM:258865
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Toe syndactyly, Elbow flexion contracture, High palate, Knee flexion contracture, Hip...	OMIM:616809
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Narrow chest, Sandal gap, Sh...	OMIM:617102
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Kyphosis, Short 4th toe, Short humerus, Short neck, Brachydactyly, Short lo...	ORPHA:420794
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Abnormal lip morphology, Aplasia/Hypoplasia of the tongue,...	ORPHA:2759
Multiple Epiphyseal Dysplasia, Beighton Type	Limitation of joint mobility, Genu valgum, Intervertebral space narrowing, Reduced proximal inter...	ORPHA:166011
Mucopolysaccharidosis Type 4	Carious teeth, Genu valgum, Bowing of the long bones, Short neck, Pectus carinatum, Joint disloca...	ORPHA:582
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa...	ORPHA:85170
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog...	ORPHA:3344
Aase-Smith Syndrome	Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp...	ORPHA:916
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hypoplastic scapulae, Finger syndactyly, Micrognathia, 2-5 finger syndactyly, Absent toe, Syndact...	OMIM:308050
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Genu valgum, Short nec...	OMIM:253000
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Laron Syndrome	Delayed menarche, Limb undergrowth, Short long bone, Abnormal joint morphology	OMIM:262500
Ulbright-Hodes Syndrome	Thin ribs, Fibular aplasia, Micrognathia, Narrow mouth, Humeroradial synostosis, Talipes equinova...	ORPHA:3404
Spondylometaphyseal Dysplasia, Axial	Platyspondyly, Rhizomelia, Narrow chest, Thoracic hypoplasia, Reduced sperm motility, Proximal fe...	OMIM:602271
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Limitation of joint mob...	ORPHA:93284
Osteogenesis Imperfecta, Type Viii	Thin ribs, Radial bowing, Barrel-shaped chest, Decreased skull ossification, Multiple prenatal fr...	OMIM:610915
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology, Short 1st metacarpal, Delayed eruption of teet...	ORPHA:63442
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy...	OMIM:617604
Hyperparathyroidism, Transient Neonatal	Thin ribs, Osteopenia, Fractured rib, Narrow chest, Metaphyseal spurs, Femoral bowing, Undulate r...	OMIM:618188
Metaphyseal Anadysplasia 2	Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin...	OMIM:613073
Trichodentoosseous Syndrome	Taurodontia, Increased bone mineral density, Microdontia, Widely spaced teeth	OMIM:190320
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Platyspondyly, Pectus carinatum, Broad femoral neck, Lumbar hyperlordosis, Genu valgum, Intervert...	OMIM:609223
Acrocephalopolydactyly	Genu recurvatum, Thoracic hypoplasia, Short neck, Limb undergrowth, Brachydactyly, Short long bone	ORPHA:221054
Multiple Epiphyseal Dysplasia Type 4	Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Abnormal hand morpho...	ORPHA:93307
Brachyolmia Type 1, Toledo Type	Abnormal odontoid process morphology, Precocious costochondral ossification, Lumbar hyperlordosis...	OMIM:271630
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Dentinogenesis imperfecta, Pectus carinatum, Kyphosis, Bowing of limbs due to mult...	OMIM:259440
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Scoliosis, Hypoplastic cervical vertebrae, Retrognathia, Elbow dislocation, Knee dislocation, Sma...	OMIM:620269
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg...	ORPHA:1159
Otodental Syndrome	Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo...	ORPHA:2791
Hypophosphatasia, Childhood	Rachitic rosary, Carious teeth, Premature loss of primary teeth, Craniosynostosis, Bowing of the ...	OMIM:241510
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Osteogenesis Imperfecta, Type Xix	Dentinogenesis imperfecta, Rhizomelia, Pectus carinatum, Osteopenia, Vertebral wedging, Bowing of...	OMIM:301014
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Micromelia, Ca...	ORPHA:2633
Eiken Syndrome	Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Multiple unerupted teeth,...	OMIM:600002
Heart Defects-Limb Shortening Syndrome	Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Abnorm...	ORPHA:1354
Mesomelia-Synostoses Syndrome	Synostosis of joints, Synostosis of carpal bones, Aplasia/Hypoplasia of the uvula, Abnormal tibia...	ORPHA:2496
Multiple Osteochondromas	Rib exostoses, Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology,...	ORPHA:321
Acromesomelic Dysplasia 4	Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to...	OMIM:619636
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os...	ORPHA:93356
Catel-Manzke Syndrome	Ulnar deviation of the 2nd finger, Genu valgum, Micrognathia, Narrow mouth, Talipes equinovarus, ...	OMIM:616145
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Cone-shaped epiphysis, Thoracic hypoplasia, Small cervical vertebral bodies, Cervical spinal cana...	ORPHA:397715
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Long fo...	OMIM:157980
Achondrogenesis Type 1A	Narrow chest, Micromelia, Long philtrum, Abnormal enchondral ossification, Micrognathia, Multiple...	ORPHA:93299
Thoracopelvic Dysostosis	Short ribs	OMIM:187770
Otodental Dysplasia	Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ...	OMIM:166750
Chst3-Related Skeletal Dysplasia	Rhizomelia, Delayed eruption of teeth, Long philtrum, Abnormal form of the vertebral bodies, Irre...	ORPHA:263463
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
Achondroplasia	Flat acetabular roof, Thoracic hypoplasia, Cervical spinal canal stenosis, Limited elbow extensio...	ORPHA:15
Meier-Gorlin Syndrome 3	Hypoplasia of the maxilla, Microretrognathia, Narrow chest, Slender long bone, Patellar hypoplasi...	OMIM:613803
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Narrow mouth, Redu...	ORPHA:2370
Smith-Magenis Syndrome	Self-injurious behavior, Toe syndactyly, Abnormal form of the vertebral bodies, Cleft upper lip, ...	ORPHA:819
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Micrognathia, Short neck, Hi...	OMIM:266920
Cooper-Jabs Syndrome	Camptodactyly of finger, Abnormal hip bone morphology, Reduced bone mineral density, Malar flatte...	ORPHA:1488
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, High palate, Accessory oral frenulum...	OMIM:277170
Achondrogenesis Type 1B	Narrow chest, Micromelia, Long philtrum, Abnormal rib morphology, Abnormal enchondral ossificatio...	ORPHA:93298
Campomelic Dysplasia	Small abnormally formed scapulae, Narrow chest, Kyphosis, Tracheomalacia, 11 pairs of ribs, Micro...	ORPHA:140
Duane-Radial Ray Syndrome	Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi...	OMIM:607323
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o...	OMIM:252500
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Mandibular prognathia, Micromelia	ORPHA:2252
Kniest Dysplasia	Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Short neck, Lumba...	OMIM:156550
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Clinodactyly, Pes planus, Everted lower lip vermilion, High palate, Motor stereotypy, Self-injuri...	OMIM:620494
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Narrow chest, Thoracic hypoplasia, Long philtrum, Widely spaced teeth, Trident pelvis, Short ling...	OMIM:619479
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra...	OMIM:156500
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Limitation of joint mobili...	ORPHA:2639
Slc35A2-Cdg	Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Camptodactyly of ...	ORPHA:356961
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Abnormal vertebral morphology, Abnormality of the vertebral column, Short humerus, Neonatal death...	OMIM:314390
Oculodentodigital Dysplasia	Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Micrognathia, Short hallux, Mandi...	ORPHA:2710
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Abnormal vertebral morphology, Carpal synostosis, Micrognathia, Narr...	OMIM:218600
Cleidocranial Dysplasia	Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Micrognathia, Decreased skull ossifi...	ORPHA:1452
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Sma...	OMIM:257850
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat...	OMIM:142900
Platyspondylic Dysplasia, Torrance Type	Platyspondyly, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Narrow ...	ORPHA:85166
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Platyspondyly, Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Lumbar hyperlordosis, ...	OMIM:612813
Acrofacial Dysostosis 1, Nager Type	Toe syndactyly, Clinodactyly, Velopharyngeal insufficiency, Overlapping toe, Micrognathia, Talipe...	OMIM:154400
Amelogenesis Imperfecta, Type Ia	Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:104530
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Abnormal epiphysis morphology, Micromelia, Osteoarthritis, Short thorax	ORPHA:93283
Weismann-Netter Syndrome	Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Calvarial hyperostosis, Squared iliac ...	OMIM:112350
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormal ilium morphology, Genu valgum, Micrognathia, Cleft soft palate, Metaphyseal dysplasia, A...	ORPHA:93316
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Hip contra...	OMIM:210710
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Micrognathia, Genu valgum, Narrow mouth, Talipes equinovarus, Radioulnar syn...	OMIM:245600
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Thick upper lip vermilion, Hypoplastic iliac wing, Carpal bone h...	OMIM:611717
Dysostosis, Stanescu Type	Carious teeth, Bowing of the long bones, Short neck, Increased bone mineral density, Hypoplasia o...	ORPHA:1798
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Sh...	OMIM:251450
Pycnodysostosis	Small hand, Carious teeth, Acromelia, Delayed cranial suture closure, Hypoplastic iliac wing, Mic...	ORPHA:763
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Nonopposable triphalangeal thumb, Hypoplasia of the radius, Diastema	OMIM:179250
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Joint contracture of the hand, Pes planus, Flattened epiphysis, High palate, Dislocated radial he...	OMIM:612350
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Pes planus, Thoracolumbar scoli...	ORPHA:457395
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Platyspondyly, Shortening of all phalanges of fingers, Wormian bones, Limb undergrowth, Shortenin...	OMIM:601356
Carabelli Anomaly Of Maxillary Molar Teeth	Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar	OMIM:114700
Schwartz-Jampel Syndrome, Type 1	Joint contracture of the hand, Pursed lips, Micrognathia, Narrow mouth, Hip contracture, Bowing o...	OMIM:255800
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Delayed cranial suture closure, Malar flat...	OMIM:603116
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Platyspondyly, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared ...	OMIM:215150
Hall-Riggs Syndrome	Platyspondyly, Abnormal epiphysis morphology, Downturned corners of mouth, Delayed eruption of te...	ORPHA:2107
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Short neck, Abnormal bone ossification, Flattened epiphysis, High palate, Flat acet...	ORPHA:163649
Distal Deletion 17Q	Small hand, Deviation of finger, Micromelia, Abnormal form of the vertebral bodies, Aplasia/Hypop...	ORPHA:1597
Spondylocostal Dysostosis 5	Pectus carinatum, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Short neck, Low back pai...	OMIM:122600
Campomelic Dysplasia	Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv...	OMIM:114290
Acromicric Dysplasia	Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Long philtrum, Thic...	ORPHA:969
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Clinodactyly of the 2nd finger, Velopharyngeal insufficiency, Micrognathia, Pes planus, Diaphysea...	OMIM:620663
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o...	OMIM:619217
Nance-Horan Syndrome	Diastema, Supernumerary maxillary incisor, Mulberry molar, Short phalanx of finger, Screwdriver-s...	OMIM:302350
Terminal Osseous Dysplasia	Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Acc...	OMIM:300244
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma...	ORPHA:485
Ollier Disease	Platyspondyly, Micromelia, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromato...	ORPHA:296
Acro-Renal-Ocular Syndrome	Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r...	ORPHA:959
Osteogenesis Imperfecta, Type V	Platyspondyly, Dentinogenesis imperfecta, Abnormal pelvic girdle bone morphology, Osteopenia, Ver...	OMIM:610967
Stuve-Wiedemann Syndrome 2	Thoracic hypoplasia, Neonatal death, Bowing of the long bones, Dysphagia, Short long bone, Stillb...	OMIM:619751
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Micrognathia, Tibial bowing, Abnormality of the lower limb, Bowing of the long bon...	ORPHA:3035
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Congenital contracture, Pursed lips, Long philtrum, Elbow flexion contracture, 11 pairs of ribs, ...	OMIM:616266
Mucopolysaccharidosis, Type Ivb	Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Genu valgum, Bilateral...	OMIM:253010
Focal Dermal Hypoplasia	Abnormality of the dentition, Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndac...	ORPHA:2092
Hallermann-Streiff Syndrome	High, narrow palate, Abnormality of the dentition, Small hand, Rib exostoses, Natal tooth, Trache...	ORPHA:2108
Autosomal Recessive Kenny-Caffey Syndrome	Thin ribs, Small hand, Carious teeth, Delayed cranial suture closure, Decreased skull ossificatio...	ORPHA:93324
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Foot polydactyly, Vertebral segmentation defect, Missing ribs, Aplasia/Hypoplasia of the thumb, M...	ORPHA:3186
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rachitic rosary, Rickets, O...	OMIM:307800
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Gen...	OMIM:184250
Smith-Mccort Dysplasia 1	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg...	OMIM:607326
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, Micrognathia, High palate, Accessory oral frenulum, Syndactyly, Hypop...	OMIM:252100
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Micrognathia, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Clinodactyl...	ORPHA:1352
Chondroectodermal Dysplasia With Night Blindness	Epiphyseal dysplasia, Osteopenia, Platyspondyly, Fractures of the long bones, Equinovarus deformi...	ORPHA:319195
Laurin-Sandrow Syndrome	Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Preaxi...	ORPHA:2378
Diaphanospondylodysostosis	Unossified sacrum, Thoracic hypoplasia, Delayed vertebral ossification, Tracheomalacia, Micrognat...	OMIM:608022
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor, Adducted thumb, Brachydactyly, Single transverse palmar crease	OMIM:620062
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Broad foot, Short neck, Pes planus, Radial head subluxation, A...	OMIM:615777
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Narrow chest, Cone-shaped epiphysis, Horizontal ribs, Aplasia of the epiglottis, Short ribs, Post...	OMIM:617088
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Clinodactyly of the 2nd finger, Genu valgum, Pes planus, Finger joint hypermobility, Flat acetabu...	OMIM:618870
Acromesomelic Dysplasia, Hunter-Thompson Type	Abnormal pelvic girdle bone morphology, Abnormality of the ankle, Hip dislocation, Short thumb, E...	ORPHA:968
Cardioacrofacial Dysplasia 2	Conical tooth, Postaxial foot polydactyly, Narrow chest, Genu valgum, Tented upper lip vermilion,...	OMIM:619143
Braddock Syndrome	Preaxial hand polydactyly, Micrognathia, Missing ribs, Short neck, Hemivertebrae, Pectus excavatu...	ORPHA:52047
Melnick-Needles Syndrome	Tooth malposition, Craniofacial hyperostosis, Delayed cranial suture closure, Micrognathia, Bowin...	ORPHA:2484
Cardioacrofacial Dysplasia 1	Conical tooth, Hypoplasia of the maxilla, Diastema, Genu valgum, Long thorax, Postaxial polydacty...	OMIM:619142
Becker Nevus Syndrome	Pectus carinatum, Lower limb asymmetry, Micromelia, Abnormal tibia morphology, Rib fusion, Supern...	ORPHA:64755
Cole-Carpenter Syndrome	Kyphosis, Delayed eruption of teeth, Abnormal form of the vertebral bodies, Abnormal dental ename...	ORPHA:2050
Tooth Agenesis, Selective, 9	Taurodontia, Selective tooth agenesis, Microdontia	OMIM:617275
Verloove Vanhorick-Brubakk Syndrome	Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal form of the vertebral bodies,...	ORPHA:3429
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Abnormality of the dentition, Carious teeth, Abnormal palate morphology, Radioulnar synostosis, P...	ORPHA:3270
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing...	ORPHA:93315
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Carious teeth, Rickets, Bulging e...	OMIM:277440
Anauxetic Dysplasia 3	Broad middle phalanx of finger, Platyspondyly, Metaphyseal cupping, Narrow chest, Retrognathia, S...	OMIM:618853
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies, Femoral bowing, Tibial bowin...	OMIM:608940
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Small hand, Joint contracture of the hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, N...	OMIM:235510
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Delay...	OMIM:264700
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Broad foot, Bowing of the long bones, Short neck, Chordee, Bro...	OMIM:166250
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Carious teeth, Generalized hypoplasia of dental enamel, Cutaneous finger syndactyly, Thoracic kyp...	OMIM:203550
Osteogenesis Imperfecta, Type Vii	Delayed cranial suture closure, Multiple prenatal fractures, Protrusio acetabuli, Osteopenia, Ver...	OMIM:610682
Ruvalcaba Syndrome	Pectus carinatum, Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Dent...	ORPHA:3121
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Toe clinodactyly, Dentinogenesis imperfecta, Limitation of joint mobility, Upper limb undergrowth...	ORPHA:166277
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Thin ribs, Hypoplasia of the odontoid process, Broad foot, Short neck, Anterior rib cupping, Flat...	OMIM:300232
Hall-Riggs Syndrome	Platyspondyly, Kyphosis, Thick lower lip vermilion, Hypoplasia of the primary teeth, Enamel hypop...	OMIM:234250
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bulging of the costochondral junctio...	OMIM:600081
Ulnar-Mammary Syndrome	Hypoplastic scapulae, Short 5th toe, Absent radius, Short 5th finger, Hypodontia, Postaxial hand ...	OMIM:181450
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Developmental And Epileptic Encephalopathy 66	Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te...	OMIM:618067
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Micrognathia, Aggressive behavior, Glossoptosis, Cleft palate, Hyperextensibili...	OMIM:618356
Maxillonasal Dysplasia, Binder Type	Short distal phalanx of finger, Dental malocclusion, Vertebral clefting, Patchy distortion of ver...	OMIM:155050
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge, Micrognathia, Decrea...	ORPHA:3472
Acrorenal Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Abnormal morphology of...	ORPHA:971
Schimke Immuno-Osseous Dysplasia	Platyspondyly, Shallow acetabular fossae, Lumbar hyperlordosis, Hypoplastic pelvis, Microdontia, ...	ORPHA:1830
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Broad clavicles, Delayed eruption of teeth, Rhizomelic arm shortening, Gingival overgrowth, Abnor...	ORPHA:508542
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Genu valgum, Malar flattening, Hypodontia,...	ORPHA:2972
Autosomal Dominant Brachyolmia	Platyspondyly, Increased vertebral height, Kyphoscoliosis, Short thorax, Abnormal metaphysis morp...	ORPHA:93304
Paternal Uniparental Disomy Of Chromosome X	Cubitus valgus, Short neck, Infertility, Shield chest, Short metacarpal	ORPHA:261524
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Kuskokwim Syndrome	Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Abnormal form of the vertebral bo...	ORPHA:1149
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Long philtrum, Aplasia/Hypoplasia involving the pelvis, Broad long bones, Rhizo-meso-acromelic li...	ORPHA:163654
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra...	OMIM:615633
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Slender long bone, Abnormal form of the vertebral bodies, Abnormal ...	ORPHA:1486
Radio-Renal Syndrome	High, narrow palate, Micromelia, Downturned corners of mouth, Retrognathia, Abnormal form of the ...	ORPHA:3015
Osteogenesis Imperfecta, Type Xii	Generalized osteoporosis, Dentinogenesis imperfecta, Pectus carinatum, Hypermobility of interphal...	OMIM:613849
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f...	ORPHA:2928
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Congenital Insensitivity To Pain With Severe Intellectual Disability	Talipes equinovalgus, Osteomyelitis, Micrognathia, Tibial bowing, Self-mutilation, Congenital bil...	ORPHA:453510
Shprintzen-Goldberg Syndrome	Elbow dislocation, Genu valgum, Micrognathia, Arachnodactyly, Bowing of the long bones, Pes planu...	ORPHA:2462
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Broad foot, Pes planus, ...	ORPHA:93357
Dentinogenesis Imperfecta	Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ...	ORPHA:49042
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Short distal phalanx of finger, Abnormality of the dentition, Dental malocclusion, Hypoplastic il...	ORPHA:1858
Smith-Mccort Dysplasia 2	Hypoplasia of the odontoid process, Genu valgum, Barrel-shaped chest, Short neck, Pes planus, Bro...	OMIM:615222
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ...	OMIM:144750
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
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap...	OMIM:276820
Caudal Regression Syndrome	Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Joint stiffness, Missin...	ORPHA:3027
Thalidomide Embryopathy	Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi...	ORPHA:3312
Noonan Syndrome 12	Pectus excavatum, 11 pairs of ribs, Proximal placement of thumb, Spinal canal stenosis	OMIM:618624
Nager Syndrome	Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hypoplasia of the zygomatic bone, No...	ORPHA:245
Kenny-Caffey Syndrome, Type 1	Thin ribs, Small hand, Carious teeth, Slender long bone, Decreased skull ossification, Delayed cl...	OMIM:244460
Snijders Blok-Campeau Syndrome	Widely spaced teeth, Abnormal foot morphology, Joint hypermobility, Taurodontia, Motor stereotypy...	OMIM:618205
Solitary Bone Cyst	Abnormal ilium morphology, Abnormal form of the vertebral bodies, Abnormal tibia morphology, Lyti...	ORPHA:83468
Schinzel-Giedion Midface Retraction Syndrome	Aplasia/Hypoplasia of the pubic bone, Talipes equinovarus, Short neck, Long clavicles, Sacrococcy...	OMIM:269150
Bruck Syndrome 1	Platyspondyly, Ankle flexion contracture, Abnormality of the dentition, Pectus carinatum, Vertebr...	OMIM:259450
Craniosynostosis, Herrmann-Opitz Type	Micromelia, Finger syndactyly, Micrognathia, Malar flattening, Split hand, Brachydactyly, Abnorma...	ORPHA:2145
Occipital Horn Syndrome	Synostosis of joints, Osteomalacia, Delayed cranial suture closure, Humerus varus, Genu valgum, P...	ORPHA:198
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Narrow chest, Rhizomelia, 11 pairs of ribs, Vertebral segmentation defect, Talipes, Hemivertebrae	OMIM:617661
Cleidocranial Dysplasia 2	Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Hypoplasia of the maxilla, Osteop...	OMIM:620099
Cranioectodermal Dysplasia 2	Clinodactyly, Micrognathia, Short neck, Everted lower lip vermilion, High palate, Syndactyly, Hor...	OMIM:613610
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
4Q21 Microdeletion Syndrome	Self-injurious behavior, Abnormality of the dentition, Small hand, Toe syndactyly, Micromelia, Do...	ORPHA:238750
Oculodentodigital Dysplasia	Broad alveolar ridges, Carious teeth, Clinodactyly, Selective tooth agenesis, Cleft upper lip, 3-...	OMIM:164200
X-Linked Hypophosphatemia	Limitation of joint mobility, Genu valgum, Bowing of the long bones, Tooth abscess, Vertebral hyp...	ORPHA:89936
Nievergelt Syndrome	Genu valgum, Pes cavus, Talipes equinovarus, Radioulnar synostosis, Radial head subluxation, Meta...	OMIM:163400
Trisomy 4P	Abnormality of the dentition, Carious teeth, Camptodactyly of finger, Radial club hand, Preaxial ...	ORPHA:1738
Holt-Oram Syndrome	Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Abnormal clavicle...	ORPHA:392
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Narrow chest, Micromelia, Preaxial polydactyly, Hamartoma of tongue, Short rib...	OMIM:616546
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Abnormality of the dentition, Micrognathia, Femoral bowing, Biconcave vertebral bodies...	OMIM:617952
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,...	ORPHA:73230
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ...	ORPHA:1275
Ulnar-Mammary Syndrome	Short distal phalanx of finger, Pectus carinatum, Abnormal clavicle morphology, Camptodactyly of ...	ORPHA:3138
Progressive Pseudorheumatoid Dysplasia	Platyspondyly, Joint contracture of the hand, Abnormal foot morphology, Camptodactyly of finger, ...	OMIM:208230
Cree Impaired Intellectual Development Syndrome	Cutaneous finger syndactyly, Cleft soft palate, Micrognathia, Aplasia/Hypoplasia of the ribs, Pec...	OMIM:606851
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Increased bone mineral density, Limb undergrowth, Abnormal lim...	ORPHA:2204
Spondylocostal Dysostosis 4, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebral segmentation...	OMIM:613686
Trichorhinophalangeal Syndrome, Type Iii	Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Dental crowding, Long phil...	OMIM:190351
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Long clavicles, Con...	OMIM:210720
Saul-Wilson Syndrome	Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of ...	OMIM:618150
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Short distal phalanx of finger, Abnormal pelvic girdle bone morp...	ORPHA:289
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Osteomalacia, Open bite, Genu valgum, Micrognathia, Open mouth, Eve...	ORPHA:534
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Micrognathia, Ging...	ORPHA:1834
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Broad ribs, Short ribs, Abnormal rib morphology, Postaxial hand poly...	ORPHA:2519
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t...	OMIM:119100
Pycnodysostosis	Aplastic clavicle, Narrow palate, Carious teeth, Spondylolysis, Persistent open anterior fontanel...	OMIM:265800
Xylt1-Cdg	Broad thumb, Joint dislocation, Clinodactyly, Flared metaphysis, Long philtrum, Broad ribs, Joint...	ORPHA:370930
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing	OMIM:241600
Osteogenesis Imperfecta, Type Xiii	Arachnodactyly, Dislocated radial head, Pectus carinatum, Wide distal femoral metaphysis, Femoral...	OMIM:614856
ERI1-related disease	Velopharyngeal insufficiency, Micrognathia, Pes planus, Patellar dislocation, Finger joint hyperm...	OMIM:608739
Maxillonasal Dysplasia	Short distal phalanx of finger, Hypoplasia of the maxilla, Tooth agenesis, Open bite, Patchy dist...	ORPHA:1248
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Popliteal pterygium, Patellar hypoplasia, Preaxial foot polydactyly, Median cleft palate, Mirror ...	OMIM:119800
Cornelia De Lange Syndrome 6	Macrodontia of permanent maxillary central incisor, Pectus carinatum, Cleft lip, Short 1st metaca...	OMIM:620568
Anauxetic Dysplasia 1	Atlantoaxial dislocation, Hip contracture, Barrel-shaped chest, Short neck, Short foot, Hypoplast...	OMIM:607095
Ritscher-Schinzel Syndrome 1	Micrognathia, Missing ribs, Hemivertebrae, Cleft palate, Syndactyly	OMIM:220210
Camptodactyly Syndrome, Guadalajara Type 1	Short distal phalanx of finger, Pectus carinatum, Toe syndactyly, Dental malocclusion, Short toe,...	ORPHA:1327
Arthrogryposis, Distal, Type 12	Spinal rigidity, Ankle flexion contracture, Dental crowding, Palmar hyperhidrosis, High palate, K...	OMIM:620545
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Talipes, Missing r...	ORPHA:1647
Robinow Syndrome	Tooth malposition, Ankyloglossia, Micrognathia, Marked delay in eruption of permanent teeth, Meso...	ORPHA:97360
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Malar flatt...	ORPHA:2180
Albers-Schönberg Osteopetrosis	Short distal phalanx of finger, Abnormality of the dentition, Carious teeth, Abnormal epiphysis m...	ORPHA:53
Leri Pleonosteosis	Genu recurvatum, Broad thumb, Abnormal epiphysis morphology, Elbow dislocation, Abnormal form of ...	ORPHA:2900
Phocomelia, Schinzel Type	Finger aplasia, High, narrow palate, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the ...	ORPHA:2879
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Thoracic hemivertebrae, Overlapping toe, Micrognathia, Short neck, Pes planus, Cervi...	ORPHA:508498
Blount Disease	Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowin...	ORPHA:2768
Wiedemann-Rautenstrauch Syndrome	Thin ribs, Natal tooth, Clinodactyly, Micrognathia, Narrow mouth, Talipes equinovarus, Short neck...	OMIM:264090
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta, Multiple small vertebral fractures, Slender long bone, Bowing of the l...	OMIM:619795
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Palmoplantar...	OMIM:129400
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Patellar subluxation, Everted lower lip vermilion, Thoracolumbar scoliosis, High palate, Hyperext...	ORPHA:3041
8Q24.3 Microdeletion Syndrome	Talipes, Short neck, Pes planus, Short hallux, Tics, Cleft maxillary alveolar ridge, Dysphagia, S...	ORPHA:508488
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Platyspondyly, Abnormal epiphysis morphology, Meta...	ORPHA:85167
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Carious teeth, Retrognathia, Malar flattening, Abnormal palate morphology, Down-sloping shoulders...	ORPHA:1390
Intermediate Osteopetrosis	Abnormality of the dentition, Erlenmeyer flask deformity of the femurs, Dental malocclusion, Sand...	ORPHA:210110
Amelogenesis Imperfecta, Type Ic	Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp...	OMIM:204650
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bulging of the costochondral junctio...	OMIM:241530
Three M Syndrome 2	Short 5th finger, Thin ribs, Pectus carinatum, Dental malocclusion, Slender long bone, Clinodacty...	OMIM:612921
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Broad thumb, Lumbar hyperlordosis, Barrel-shaped chest, Joint hypermobility, Short ne...	ORPHA:171866
Dyssegmental Dysplasia, Silverman-Handmaker Type	Anisospondyly, Micromelia, Thoracic hypoplasia, Pterygium, Micrognathia, Narrow mouth, Malar flat...	OMIM:224410
X-Linked Intellectual Disability Due To Gria3 Mutations	Genu recurvatum, Macrodontia of permanent maxillary central incisor, Narrow palate, Thick vermili...	ORPHA:364028
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D...	OMIM:311300
Cerebellar-Facial-Dental Syndrome	Macrodontia of permanent maxillary central incisor, Foot joint contracture, Slender long bone, De...	ORPHA:444072
Hypocalcemic Vitamin D-Resistant Rickets	Abnormality of the dentition, Coarse metaphyseal trabecularization, Abnormal form of the vertebra...	ORPHA:93160
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Ora...	ORPHA:199306
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas...	ORPHA:175
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Clinodactyly, Accessory oral frenulum, Brachydactyly, Osteolysis involving bones of the upper lim...	ORPHA:88630
Focal Dermal Hypoplasia	Toe syndactyly, Midclavicular aplasia, Foot polydactyly, Short metacarpal, Oligodontia, Hypodonti...	OMIM:305600
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the pelvis, Micrognathia, Narrow mouth, Missing ribs, Orofacial clef...	ORPHA:3301
Sheldon-Hall Syndrome	Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Abnormal hip bone morphology, Microg...	ORPHA:1147
Intellectual Developmental Disorder, Autosomal Dominant 21	Long philtrum, Sacral dimple, Narrow mouth, Single transverse palmar crease, Thin vermilion borde...	OMIM:615502
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of...	OMIM:313400
Taurodontism	Taurodontia	OMIM:272700
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Hypogonadism, Decreased fertility, Abnormal morphology of ulna, Short neck, Abnormal metacarpal m...	ORPHA:2233
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Abnormality of the dentition, Camptodactyly of finger, Abnormal dental enamel morphology, Hypogon...	ORPHA:3220
Trichorhinophalangeal Syndrome, Type I	Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Pes planu...	OMIM:190350
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Bifid uvula, Broad distal phalanx of finger, Dental crowding, Delayed eruption of teeth, Microgna...	OMIM:300990
Geroderma Osteodysplastica	Platyspondyly, Pectus carinatum, Abnormal epiphysis morphology, Abnormal form of the vertebral bo...	ORPHA:2078
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e...	OMIM:305620
Cousin Syndrome	Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Mic...	OMIM:260660
Kagami-Ogata Syndrome	Thin ribs, Hypoplasia of the maxilla, Retrognathia, Long philtrum, Micrognathia, Bell-shaped thor...	OMIM:608149
Congenital Disorder Of Glycosylation, Type Iig	Small hand, Shallow acetabular fossae, Micrognathia, Narrow mouth, Talipes equinovarus, Short nec...	OMIM:611209
Microphthalmia With Limb Anomalies	Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, High palate, 2-5 toe syndactyly,...	OMIM:206920
Osteoglosphonic Dysplasia	Rhizomelia, Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Tooth agenesis, ...	ORPHA:2645
Microlissencephaly-Micromelia Syndrome	Micromelia, Long philtrum, 11 pairs of ribs, Bilateral single transverse palmar creases, Short ne...	ORPHA:50810
Robinow Syndrome, Autosomal Dominant 2	Broad thumb, Clinodactyly, Micrognathia, Cleft soft palate, Oligodontia, Thin upper lip vermilion...	OMIM:616331
Acrofacial Dysostosis, Catania Type	Carious teeth, Micrognathia, Malar flattening, Single transverse palmar crease, Brachydactyly, Sp...	OMIM:101805
Grant Syndrome	Wormian bones, Micrognathia, Tibial bowing, Down-sloping shoulders	OMIM:138930
Gm1-Gangliosidosis, Type Ii	Thoracolumbar kyphosis, Platyspondyly, Joint stiffness, Gingival overgrowth, Narrow mouth, Protru...	OMIM:230600
Acrofacial Dysostosis, Palagonia Type	High, narrow palate, Small hand, Finger syndactyly, Unilateral cleft lip, Abnormal form of the ve...	ORPHA:1787
Codas Syndrome	Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology...	ORPHA:1458
Wiedemann-Steiner Syndrome	Rhizomelia, Hyperextensibility at elbow, Clinodactyly, Long philtrum, Thin upper lip vermilion, M...	ORPHA:319182
Achondrogenesis	Narrow chest, Micromelia, Long philtrum, Abnormal enchondral ossification, Micrognathia, Short ne...	ORPHA:932
Osteogenesis Imperfecta, Type Vi	Dentinogenesis imperfecta, Bowing of the arm, Increased susceptibility to fractures, Biconcave ve...	OMIM:613982
Opsismodysplasia	Hypoplasia of the odontoid process, Bell-shaped thorax, Short neck, Anterior rib cupping, Flat ac...	OMIM:258480
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
C Syndrome	Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micromelia, ...	OMIM:211750
3C Syndrome	High, narrow palate, Finger syndactyly, Abnormal hip bone morphology, Micrognathia, Missing ribs,...	ORPHA:7
Congenital Syphilis	Periostitis, Hyperplasia of the maxilla, Tibial bowing, Synovitis, Osteochondrosis, Mulberry mola...	ORPHA:499009
Spondylometaphyseal Dysplasia, Pagnamenta Type	Platyspondyly, Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpa...	OMIM:619638
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Equinovarus deformity, Short femoral neck, Flared metaphysis, Short palm, Broad foot, Aplasia/Hyp...	ORPHA:2502
Geroderma Osteodysplasticum	Platyspondyly, Abnormality of the dentition, Hypoplasia of the maxilla, Osteopenia, Periodontitis...	OMIM:231070
Radial Ray Hypoplasia With Choanal Atresia	Hypoplasia of the radius, Distally placed thumb, Short thumb, Small thenar eminence	OMIM:179270
Stickler Syndrome, Type Iv	Epiphyseal dysplasia, Platyspondyly, Hypoplastic iliac wing, Irregular femoral epiphysis, Genu va...	OMIM:614134
Lowry-Maclean Syndrome	High, narrow palate, Osteopenia, Hypoplasia of the maxilla, Widely patent coronal suture, Downtur...	ORPHA:2409
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Gingival bleeding, Osteopenia, Short toe, Recurrent mandibular subluxations, Micrognathia, Gingiv...	OMIM:225410
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia, Brachydactyly, Short metatarsal, Short metacarpal	OMIM:613382
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral segmentation defect, Talipes equinovarus, Short long bone, Short thorax, Vertebral fusi...	OMIM:618845
Trichorhinophalangeal Syndrome Type 1	Short distal phalanx of finger, Abnormality of the dentition, Cone-shaped epiphysis, Pectus carin...	ORPHA:77258
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Abnormal femur morphology, Reduced bone miner...	ORPHA:1508
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T...	OMIM:272460
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ...	OMIM:271520
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Micromelia, Orofacial cleft, Femoral retroversion, Dysphagia, Macroglossia,...	ORPHA:79107
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Liang-Wang Syndrome	Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Gingiv...	OMIM:618729
Osteogenesis Imperfecta, Type Xvii	Platyspondyly, Dentinogenesis imperfecta, Thin metacarpal cortices, Recurrent fractures, Joint hy...	OMIM:616507
Calvarial Doughnut Lesions With Bone Fragility	Platyspondyly, Osteopenia, Carious teeth, Femoral bowing, Osteoporosis, Scoliosis, Recurrent frac...	OMIM:126550
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Small hand, Broad thumb, Micrognathia, Narrow mouth, Talipes equinovarus, Short neck, Polyphagia,...	ORPHA:251028
Amelogenesis Imperfecta, Type Iv	Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia	OMIM:104510
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Avascular necrosis of the ca...	OMIM:184100
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th...	ORPHA:508533
Thanatophoric Dysplasia	Platyspondyly, Abnormal ilium morphology, Narrow chest, Micromelia, Short thorax, Joint stiffness...	ORPHA:2655
Tarp Syndrome	Clinodactyly, Micrognathia, Glossoptosis, Neonatal death, Postaxial polydactyly, Talipes equinova...	OMIM:311900
Hoxha-Aliu Syndrome	Abnormal vertebral morphology, Overlapping toe, Broad foot, Absent fifth metatarsal, Patellar dis...	OMIM:620662
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula...	ORPHA:84
Kinsship Syndrome	Ankyloglossia, Micrognathia, Short neck, Pes planus, Dislocated radial head, Motor stereotypy, Hi...	OMIM:619297
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Crisponi/Cold-Induced Sweating Syndrome 1	Carious teeth, Radial deviation of finger, Long philtrum, Retrognathia, Elbow flexion contracture...	OMIM:272430
Panner Disease	Limited elbow extension, Abnormality of upper limb joint, Joint swelling, Limited elbow movement,...	ORPHA:97336
Fibular Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna	ORPHA:1118
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Small hand, Broad femoral neck, Retrognathia, Distal shortening of limbs, Thickened c...	ORPHA:488434
Campomelia, Cumming Type	Clubbing of toes, Micromelia, Abnormally ossified vertebrae, Abnormal thorax morphology, Bowing o...	ORPHA:1318
Odontotrichoungual-Digital-Palmar Syndrome	Short distal phalanx of finger, Short 1st metacarpal, Dental malocclusion, Natal tooth, Short fir...	OMIM:601957
Gillessen-Kaesbach-Nishimura Syndrome	Retrognathia, Micrognathia, Decreased skull ossification, Smooth philtrum, Narrow greater sciatic...	OMIM:263210
Fibrous Dysplasia Of Bone	Osteomalacia, Abnormal tibia morphology, Abnormality of the sphenoid sinus, Bowing of the long bo...	ORPHA:249
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Garg-Mishra Progeroid Syndrome	Thin ribs, Platyspondyly, Narrow chest, Dental crowding, Slender long bone, Persistent open anter...	OMIM:620601
Eem Syndrome	Carious teeth, Finger syndactyly, Selective tooth agenesis, Ectrodactyly, Widely spaced teeth, Ab...	ORPHA:1897
Beta-Mercaptolactate Cysteine Disulfiduria	Micromelia, Sandal gap, Genu valgum, Joint hypermobility, Arachnodactyly, High palate	ORPHA:1035
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Pectus carinatum, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short nec...	OMIM:184095
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Schwartz-Jampel Syndrome	Arthrogryposis multiplex congenita, Elbow dislocation, Pursed lips, Micrognathia, Genu valgum, Na...	ORPHA:800
Intellectual Developmental Disorder, Autosomal Dominant 53	Joint hypermobility, Genu valgum, Wide mouth, Short femur	OMIM:617798
Mucopolysaccharidosis, Type X	Platyspondyly, Broad clavicles, Long philtrum, Irregular acetabular roof, Open bite, Diastema, Wi...	OMIM:619698
Acrocraniofacial Dysostosis	Short distal phalanx of finger, Ulnar deviation of finger, Broad thumb, Short 1st metacarpal, Abn...	ORPHA:949
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Platyspondyly, Osteopenia, Proximal femoral epiphysiolysis, Small epiphyses, Overlapping toe, Fem...	OMIM:616723
Dysosteosclerosis	Platyspondyly, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Delayed eruption ...	ORPHA:1782
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Dislocation of the femoral h...	OMIM:616007
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bilateral single t...	ORPHA:3103
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rachitic rosary, Rickets, Delayed...	ORPHA:289157
Fanconi Anemia, Complementation Group O	Absent thumb, Short thumb, Neonatal death, Hypoplasia of the radius, Small thenar eminence, Proxi...	OMIM:613390
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Narrow chest, Abnormal pelvis bone ossification, Micromelia, Preaxial hand polydactyly, Long phil...	ORPHA:93271
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Polydactyly, Aggressive behavior, Orofacial cleft, Flexion contracture, Short femur	ORPHA:17
Acrootoocular Syndrome	Micrognathia, Anodontia, Small thenar eminence, Short foot, Short metacarpal, High, narrow palate...	ORPHA:2980
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi...	OMIM:259600
Lethal Congenital Contracture Syndrome 10	Narrow palate, Narrow chest, Long philtrum, Stiff neck, Broad ribs, Overlapping fingers, Microgna...	OMIM:617022
Image Syndrome	Hypogonadism, Micromelia, Metaphyseal dysplasia	ORPHA:85173
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Ivory epiphyses of the toes, Irregular ...	OMIM:226980
Thoraco-Abdominal Enteric Duplication	Missing ribs, Camptodactyly of finger	ORPHA:1759
Postaxial Oligodactyly, Tetramelic	Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-...	OMIM:176240
3P25.3 Microdeletion Syndrome	Broad thumb, Overlapping toe, Micrognathia, 2-3 finger syndactyly, Motor stereotypy, High, narrow...	ORPHA:435638
Dyschondrosteosis-Nephritis Syndrome	Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Ulnar bowing, Microdontia, Madelung ...	ORPHA:1765
Spondyloepiphyseal Dysplasia Congenita	Hypoplasia of the odontoid process, Limited hip movement, Delayed pubic bone ossification, Barrel...	OMIM:183900
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Synostosis of carpal bones, Failure of eruption of perman...	ORPHA:3238
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Epidermolysis Bullosa, Junctional 1A, Intermediate	Carious teeth, Camptodactyly of finger, Palmar hyperhidrosis, Oral mucosal blisters, Hypodontia, ...	OMIM:226650
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Abnormal temper tantrums, Dental malocclusion, Clinodactyly of the 2nd finger, Long p...	ORPHA:73223
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Elbow dislocation, Abnormal form of the vertebral bodies, Abnormal dental ...	ORPHA:2916
Fountain Syndrome	Short distal phalanx of finger, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, ...	ORPHA:3219
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Exaggerated median tongue furrow, Broad foot, Talipes equinovarus, 2-3 finger syndac...	OMIM:312870
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Neuromuscular dysphagia, Retrognathia, Equino...	ORPHA:466722
Mycetoma	Structural foot deformity, Abnormal forearm bone morphology, Painless fractures due to injury, Pa...	ORPHA:2583
Sillence Syndrome	Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo...	ORPHA:3168
Roberts-Sc Phocomelia Syndrome	Clinodactyly, Hyperplasia of the maxilla, Micrognathia, Short neck, Abnormal metacarpal morpholog...	OMIM:268300
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ...	ORPHA:90652
Cantú Syndrome	Platyspondyly, Short distal phalanx of finger, Narrow chest, Deep plantar creases, Finger syndact...	ORPHA:1517
Distal Duplication 18Q	Progressive intervertebral space narrowing, Carious teeth, Deviation of finger, Camptodactyly of ...	ORPHA:1716
Phosphoribosylaminoimidazole Carboxylase Deficiency	Lumbar hemivertebrae, Neonatal death, Missing ribs, Talipes equinovarus, Short neck, Clinodactyly...	OMIM:619859
Epiphyseal Dysplasia, Baumann Type	Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ...	OMIM:610797
Richieri Costa-Da Silva Syndrome	Pectus carinatum, Vertebral wedging, Decreased anterioposterior diameter of lumbar vertebral bodi...	ORPHA:3101
Ivic Syndrome	Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Joint stif...	ORPHA:2307
Mesomelia-Synostoses Syndrome	Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Abnormal vertebr...	OMIM:600383
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Joint stiffness, Abnormally ossified vertebrae, Abnormal morpho...	ORPHA:2167
Neurodegeneration And Seizures Due To Copper Transport Defect	Talipes equinovarus, Short tibia, Short femur	OMIM:620306
Atkin-Flaitz Syndrome	Abnormality of the dentition, Maxillary lateral incisor microdontia, Everted lower lip vermilion,...	ORPHA:1193
Aicardi Syndrome	Small hand, Block vertebrae, Cleft upper lip, Butterfly vertebrae, Prominence of the premaxilla, ...	ORPHA:50
Rubinstein-Taybi Syndrome 1	Broad thumb, Delayed cranial suture closure, Hypoplastic iliac wing, Micrognathia, Narrow mouth, ...	OMIM:180849
Frank-Ter Haar Syndrome	Delayed cranial suture closure, Micrognathia, Anterior concavity of thoracic vertebrae, Bowing of...	OMIM:249420
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Narrow mouth, Synovitis, Widely patent fontanelles and sutures, Irregular sclerotic ...	ORPHA:3455
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Carious teeth, Delayed eruption of primary teeth, Absence of Sten...	OMIM:149730
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Thin ribs, Coronal craniosynostosis, Retrognathia, Contracture of the distal interphalangeal join...	ORPHA:83617
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Micromelia, Joint hypermobility, Decreased calvarial ossification, Abnormal rib morphology, Recur...	ORPHA:2772
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Tapered finger, Dysphagia, Short humerus, Short femur	OMIM:618367
Distal Limb Deficiencies-Micrognathia Syndrome	Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Microretrognathia, Abnormality of th...	ORPHA:1307
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Broad hallux, Cleft lip, Preaxial polydactyly, Hamartoma of tongu...	OMIM:615948
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
Doors Syndrome	Equinovarus deformity, Short lingual frenulum, Open mouth, Aplasia/Hypoplasia of the phalanges of...	ORPHA:79500
Arthrogryposis Multiplex Congenita 5	Hand clenching, Scoliosis, Long philtrum, Elbow flexion contracture, 11 pairs of ribs, Micrognath...	OMIM:618947
Gm1 Gangliosidosis	Platyspondyly, Mandibular prognathia, Coarse metaphyseal trabecularization, Abnormal epiphysis mo...	ORPHA:354
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Open mouth, Pes planus, Everted lower lip vermilion, Large hands, High...	ORPHA:192
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Thick lower lip vermilion, Broad ribs, Joint stiffness, Genu valgum, Short ...	ORPHA:583
Camurati-Engelmann Disease	Carious teeth, Limitation of joint mobility, Abnormal tibia morphology, Genu valgum, Pes planus, ...	ORPHA:1328
Autosomal Recessive Hypophosphatemic Rickets	Osteomalacia, Rickets of the lower limbs, Sclerotic vertebral endplates, Tooth abscess, Genu varu...	ORPHA:289176
Premature Aging Syndrome, Penttinen Type	Thin ribs, Delayed cranial suture closure, Micrognathia, Flexion contracture of finger, Short foo...	OMIM:601812
Cornelia De Lange Syndrome 1	Micrognathia, Short neck, High palate, Dislocated radial head, High, narrow palate, Self-injuriou...	OMIM:122470
Acrofacial Dysostosis, Catania Type	Abnormality of the dentition, Small hand, Microretrognathia, Carious teeth, Finger syndactyly, Hy...	ORPHA:1786
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Absent thumb, Retrognathia, Elbow flexion contracture, Hypoplastic pelvis, ...	OMIM:618022
Autosomal Recessive Robinow Syndrome	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Broad thumb, Elbow dislocation, Op...	ORPHA:1507
Phaver Syndrome	Ulnar deviation of finger, Broad thumb, Short thumb, Abnormal form of the vertebral bodies, Campt...	ORPHA:2876
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta, Osteopenia, Vertebral wedging, Increased susceptibility to fractures, ...	OMIM:610968
Acrofrontofacionasal Dysostosis	Short distal phalanx of finger, Broad thumb, Abnormal epiphysis morphology, Micromelia, Camptodac...	ORPHA:1784
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Genu valgum, Hypophosphatemic rickets, Hypoplasia of teeth, Genu varum, Coxa valga	OMIM:613312
Stickler Syndrome, Type I	Micrognathia, Arachnodactyly, Beaking of vertebral bodies, Pierre-Robin sequence, Abnormal femora...	OMIM:108300
Sclerosteosis 1	Irregular menstruation, Tooth malposition, Abnormal pelvic girdle bone morphology, Broad clavicle...	OMIM:269500
Eec Syndrome	Toe syndactyly, Carious teeth, Finger syndactyly, Ectrodactyly, Tooth agenesis, Abnormal dental e...	ORPHA:1896
Dyskeratosis Congenita	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Periodontitis, Palmoplant...	ORPHA:1775
Satoyoshi Syndrome	Abnormal epiphysis morphology, Abnormal joint morphology, Abnormal hip bone morphology, Abnormal ...	ORPHA:3130
Diamond-Blackfan Anemia 1	Hypoplastic ilia, Narrow chest, Hypoplastic coccygeal vertebrae, Absent thumb, Short thumb, Retro...	OMIM:105650
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Micrognathia, Pes planus, High palate, Motor stereotypy, Eruption failure, Attention deficit hype...	ORPHA:476126
Thanatophoric Dysplasia Type 2	Platyspondyly, Narrow chest, Limitation of joint mobility, Micromelia, Joint hypermobility, Brach...	ORPHA:93274
Robinow Syndrome, Autosomal Dominant 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, Short lingual f...	OMIM:180700
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the dentition, Short 5th metacarpal, Oligodontia, Abnormality of the hand, Brachyd...	ORPHA:1264
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Long philtrum, Camptodactyly of finger, Abnormal rib morphology, Abnormal form...	ORPHA:2311
Tbck-Related Intellectual Disability Syndrome	High, narrow palate, Clinodactyly, Long philtrum, 11 pairs of ribs, Tented upper lip vermilion, 2...	ORPHA:488632
Orofaciodigital Syndrome X	Finger aplasia, Retrognathia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal b...	OMIM:165590
Peters-Plus Syndrome	Square pelvis bone, Micrognathia, Short lingual frenulum, Broad foot, Limited elbow movement, Sho...	OMIM:261540
Floating-Harbor Syndrome	Carious teeth, Clinodactyly, Short neck, Broad fingertip, Dislocated radial head, Restlessness, S...	ORPHA:2044
Orofaciodigital Syndrome Iii	Bifid uvula, Postaxial foot polydactyly, Kyphosis, Microdontia, Short sternum, Postaxial hand pol...	OMIM:258850
Floating-Harbor Syndrome	Broad thumb, Carious teeth, Short neck, Broad fingertip, Dislocated radial head, Cone-shaped epip...	OMIM:136140
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Thick lower lip vermilion, Abnormal palate morphology, Deep philtrum, Brachydactyl...	ORPHA:2701
Raine Syndrome	Natal tooth, Arthrogryposis multiplex congenita, Long hallux, Micrognathia, Narrow mouth, Protrud...	OMIM:259775
Spondyloenchondrodysplasia	Platyspondyly, Hypoplastic ilia, Short distal phalanx of finger, Pectus carinatum, Dental maloccl...	ORPHA:1855
Cog1-Cdg	Posterior rib gap, Osteopenia, Rhizomelia, Long philtrum, Micrognathia, Narrow mouth, Butterfly v...	ORPHA:263508
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Irregular menstruation, Rhizomelia, Narrow chest, Kyphosis, Lumbar hyperlordosis, ...	OMIM:616482
Czech Dysplasia	Platyspondyly, Limitation of joint mobility, Short toe, Flexion contracture, Intervertebral space...	OMIM:609162
Robinow Syndrome, Autosomal Recessive 2	Abnormality of the dentition, Broad thumb, Clinodactyly, Prominent fingertip pads, Sandal gap, Br...	OMIM:618529
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Diastema, Bicoronal synostosis, Agenesis of molar, Microdontia, Joint hypermobility, ...	OMIM:619718
Van Maldergem Syndrome 1	Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Irregular dentition, Talipes equinovarus...	OMIM:601390
Osteopathia Striata With Cranial Sclerosis	Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Arachnodactyly, Talipe...	OMIM:300373
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral...	OMIM:166740
Qazi-Markouizos Syndrome	High, narrow palate, Open mouth, Broad philtrum, Pectus excavatum, Hypoplasia of teeth, Delayed o...	ORPHA:3010
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Small hand, Conical tooth, Overlapping fingers, Solitary median max...	ORPHA:952
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Broad thumb, Carious teeth, Natal tooth, Patellar dislocation, Motor stereotypy, Self-injurious b...	ORPHA:353281
Infantile Systemic Hyalinosis	Osteopenia, Micromelia, Camptodactyly of finger, Osteomalacia, Abnormal dental morphology, Joint ...	ORPHA:2176
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atlantoaxial dislocation, Carious teeth, Dysplasia of the femoral head, Micrognathia, Arachnodact...	ORPHA:536467
Al-Gazali Syndrome	Osteopenia, Broad distal phalanx of finger, Micrognathia, Recurrent fractures, Bowed humerus, Wri...	OMIM:609465
Shprintzen-Goldberg Craniosynostosis Syndrome	Thin ribs, Joint contracture of the hand, Genu valgum, Micrognathia, Arachnodactyly, Talipes equi...	OMIM:182212
Charge Syndrome	Micrognathia, Radial head subluxation, Absent radius, Bilateral talipes equinovarus, Dysphagia, H...	OMIM:214800
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Micrognathia, Bilateral single transverse palmar creases, Talip...	ORPHA:3310
Multiple Pterygium Syndrome, Escobar Variant	Intercrural pterygium, Talipes calcaneovalgus, Micrognathia, Dysplastic patella, Patellar aplasia...	OMIM:265000
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta, Femoral bowing present at birth, straightening with time, Otosclerosis...	OMIM:166220
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Narrow mouth, Arachnodactyly, Talipes equinovarus, Ulnar deviation of finger, ...	ORPHA:2215
Gm1 Gangliosidosis Type 1	Platyspondyly, Pectus carinatum, Long philtrum, Beaking of vertebral bodies T12-L3, Gingival over...	ORPHA:79255
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carious teeth, Hypoplastic iliac wing, ...	OMIM:253200
Acromelic Frontonasal Dysostosis	Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Cleft upper lip, Preaxial foot polyd...	OMIM:603671
Ventriculomegaly With Defects Of The Radius And Kidney	Bowed forearm bones, Forearm undergrowth, Absent thumb, Absent radius	OMIM:602200
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis	OMIM:156232
Alagille Syndrome 1	Short distal phalanx of finger, Butterfly vertebral arch, Hypoplasia of the ulna, Hemivertebrae, ...	OMIM:118450
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal pelvic girdle bone morphology, Narrow chest, Micromelia, Increased skull ossification, B...	ORPHA:1422
Osteopetrosis, Autosomal Recessive 2	Carious teeth, Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Persistence of prim...	OMIM:259710
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Elbow contracture, Irregular epiphyses, Sclerosis of skull base, Delayed pubic bone o...	OMIM:618162
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri...	OMIM:300554
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Fractures o...	OMIM:166600
6Q Terminal Deletion Syndrome	High, narrow palate, Clinodactyly, Talipes calcaneovalgus, Micrognathia, Joint hypermobility, Sho...	ORPHA:75857
Nivelon-Nivelon-Mabille Syndrome	Narrow chest, Distal clavicular thinning, Micromelia, Bell-shaped thorax, Trapezoidal vertebral b...	OMIM:600092
Temtamy Syndrome	Dental crowding, Long philtrum, Micrognathia, Self-mutilation, Talipes equinovarus, Pes planus, B...	OMIM:218340
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Aplasia of the distal phalanx of the 5th toe, Microglossia, Cleft mandible...	ORPHA:364577
Stüve-Wiedemann Syndrome	Limitation of joint mobility, Genu valgum, Bowing of the long bones, Talipes equinovarus, Flexion...	ORPHA:3206
Gorlin Syndrome	Abnormal vertebral morphology, Palmar pits, Plantar pits, Carious teeth, Vertebral wedging, Abnor...	ORPHA:377
Tarp Syndrome	Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Micrognathia, Glossoptosis, Alveo...	ORPHA:2886
Hypertrichosis Cubiti	Rhizomelia, Abnormality of the elbow, Micromelia, Joint hypermobility	ORPHA:2220
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Distal shortening of limbs, Neonatal dea...	OMIM:146510
Meckel Syndrome, Type 9	Talipes equinovarus, Limb undergrowth	OMIM:614209
Endocrine-Cerebroosteodysplasia	Natal tooth, Thick upper lip vermilion, Micrognathia, Fibular bowing, Barrel-shaped chest, Talipe...	OMIM:612651
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Narrow chest, Cone-shaped epiphysis, Abnormal scapula morphology, Rhizomelic arm s...	ORPHA:93317
Moebius Syndrome	Finger syndactyly, Micrognathia, Open mouth, Talipes equinovarus, Aplasia/Hypoplasia of the thumb...	ORPHA:570
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob...	OMIM:114000
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Abnormal epiphysis morphology, Micromelia, Retrognathia, Tooth agenesis, Hypoplastic iliac wing, ...	ORPHA:2637
Osteopetrosis, Autosomal Recessive 1	Carious teeth, Flared metaphysis, Sandwich appearance of vertebral bodies, Pathologic fracture, O...	OMIM:259700
Gapo Syndrome	Asymmetry of the thorax, Abnormal pelvic girdle bone morphology, Mandibular prognathia, Abnormal ...	ORPHA:2067
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, Carious teeth, High iliac wing, Delayed eruption of teeth, Long philtr...	ORPHA:50814
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Narrow chest, Polydactyly, Brachydactyly, Short long bone, Scoliosis	OMIM:613819
Brachyolmia Type 3	Platyspondyly, Radial deviation of finger, Clinodactyly, Proximal femoral metaphyseal irregularit...	OMIM:113500
Thoracic Dysplasia-Hydrocephalus Syndrome	Narrow chest, Limb undergrowth, Abnormal metaphysis morphology	ORPHA:1861
Thanatophoric Dysplasia, Glasgow Variant	Micromelia, Neonatal death	OMIM:273680
Arboleda-Tham Syndrome	Enlarged proximal interphalangeal joints, Genu valgum, Narrow mouth, Pes planus, Short hallux, Mo...	OMIM:616268
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Broad thumb, Carious teeth, Natal tooth, Micrognathia, Patellar dislocation, High palate, Motor s...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Broad thumb, Carious teeth, Natal tooth, Micrognathia, Patellar dislocation, High palate, Motor s...	ORPHA:353277
Larsen Syndrome	Hypoplastic cervical vertebrae, Elbow dislocation, Talipes equinovarus, Beaking of vertebral bodi...	OMIM:150250
Glass Syndrome	Micrognathia, Narrow mouth, Arachnodactyly, Talipes equinovarus, High palate, Restlessness, Pierr...	OMIM:612313
Craniolenticulosutural Dysplasia	Carious teeth, Pes planus, High palate, Osteopenia, Thin upper lip vermilion, Narrow iliac wing, ...	OMIM:607812
Geleophysic Dysplasia 1	Platyspondyly, Osteopenia, Joint contracture of the hand, Cone-shaped epiphysis, Short metacarpal...	OMIM:231050
Ulnar Agenesis And Endocardial Fibroelastosis	Finger aplasia, Aplasia of the ulna, Neonatal death	OMIM:276822
Aicardi Syndrome	Block vertebrae, Cleft upper lip, Butterfly vertebrae, Prominence of the premaxilla, Missing ribs...	OMIM:304050
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Elbow dislocation, Open bite, Micrognathia, Anodontia, Short neck, Short palm,...	ORPHA:3107
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Carious teeth, Camptodactyly of finger, Joint contracture of the 5th finger, Arachnodactyly, Scol...	ORPHA:1883
Ctcf-Related Neurodevelopmental Disorder	Macrodontia of permanent maxillary central incisor, Abnormality of the dentition, Osteopenia, Abn...	ORPHA:363611
Monosomy 18P	Tooth malposition, Carious teeth, Downturned corners of mouth, Micrognathia, Kyphoscoliosis, Hypo...	ORPHA:1598
Dpm1-Cdg	High, narrow palate, Sandal gap, Long hallux, Micrognathia, Tented upper lip vermilion, Knee flex...	ORPHA:79322
Fanconi Anemia, Complementation Group W	Absent thumb, Hypoplasia of the radius, Abnormal radial ray morphology	OMIM:617784
Osteogenesis Imperfecta, Type I	Osteopenia, Dentinogenesis imperfecta, Otosclerosis, Femoral bowing, Increased susceptibility to ...	OMIM:166200
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteomalacia, Micrognathia, Bilateral single transverse palmar creases, Short neck, Abnormal meta...	ORPHA:2636
Weyers Acrofacial Dysostosis	Conical tooth, Postaxial foot polydactyly, Solitary median maxillary central incisor, Brachydacty...	OMIM:193530
Fibular Dimelia-Diplopodia Syndrome	Absent tibia, Sacrococcygeal teratoma	ORPHA:1757
Leopard Syndrome 1	Pectus carinatum, Delayed menarche, Limited elbow movement, Missing ribs, Cubitus valgus, Short n...	OMIM:151100
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Narrow palate, Retrognathia, Long philtrum, Thoracic kyphosis, Micrognathia, Narrow mouth, Wide m...	OMIM:620250
Fanconi Anemia, Complementation Group P	Hypoplasia of the radius, Micrognathia, Absent thumb, Short thumb	OMIM:613951
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Clinodactyly, Micrognathia, Short neck, Syndactyly, Cleft lip, Downturned corners of...	OMIM:616894
Jacobsen Syndrome	Toe clinodactyly, Toe syndactyly, Finger syndactyly, Short toe, Long philtrum, Abnormal form of t...	ORPHA:2308
Fanconi Anemia, Complementation Group I	Absent thumb, Short thumb, Short 1st metacarpal, Short neck, Hypoplasia of the radius, Fused cerv...	OMIM:609053
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Long philtrum, Limited elbow movement, Limb undergrowth, Brachydactyly, Thi...	OMIM:617809
Elsahy-Waters Syndrome	Bifid uvula, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Long phil...	OMIM:211380
Pseudotrisomy 13 Syndrome	Postaxial foot polydactyly, Cleft upper lip, 11 pairs of ribs, Median cleft palate, 2-3 toe synda...	OMIM:264480
Oslam Syndrome	Carious teeth, Radioulnar synostosis, Clinodactyly of the 5th finger	ORPHA:2760
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Retrognathia, Kyphoscoliosis, Limb undergrowth, Joint contracture, High palate, Hip d...	OMIM:618005
Glutamine Deficiency, Congenital	Micromelia, Neonatal death, Camptodactyly, Flexion contracture, Thin vermilion border	OMIM:610015
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Delayed cranial suture closure, Flexion contracture, Micrognathia, Narrow mouth,...	OMIM:608612
Microcephalic Primordial Dwarfism, Dauber Type	Madelung deformity, Lumbar scoliosis, Primary amenorrhea, Limb undergrowth, Hip dysplasia, Clinod...	ORPHA:319675
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Enamel hypoplasia, Syndactyly	OMIM:226700
Joubert Syndrome 21	Bell-shaped thorax, Dysphagia, Chronic sinusitis, Short ribs	OMIM:615636
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Conical incisor, Carious teeth, Enamel hypoplasia	OMIM:614564
Duane Retraction Syndrome	Abnormal form of the vertebral bodies, Preaxial hand polydactyly, Micrognathia, Talipes equinovar...	ORPHA:233
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia, Single transverse palmar crease	OMIM:218550
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Abnormal clavicle morphology, Femoral bowing, Fibular bowing, Tibial bowing, Metaphyseal chondrod...	ORPHA:85165
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae...	ORPHA:2064
Fanconi Anemia, Complementation Group U	Absent thumb, Hypoplasia of the radius, Absent radius, Absent scaphoid, Aplasia of the 1st metaca...	OMIM:617247
Scarf Syndrome	Pectus carinatum, Abnormal form of the vertebral bodies, Long philtrum, Joint hypermobility, Shor...	ORPHA:3134
Rothmund-Thomson Syndrome Type 1	Carious teeth, Patellar aplasia, Premature ovarian insufficiency, Genu varum, Short metacarpal, O...	ORPHA:221008
Tooth Agenesis, Selective, X-Linked, 1	Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ...	OMIM:313500
21Q22.11Q22.12 Microdeletion Syndrome	Acromesomelia, Self-injurious behavior, Dental crowding, Clinodactyly, Downturned corners of mout...	ORPHA:261323
Rubinstein-Taybi Syndrome	Abnormality of the dentition, Clubbing of toes, Broad thumb, Carious teeth, Finger syndactyly, Ab...	ORPHA:783
Rhyns Syndrome	Osteopenia, Radial bowing, Brachydactyly, Short long bone, Osteoporosis, Short femoral neck	OMIM:602152
Apert Syndrome	Bifid uvula, Hypoplasia of the maxilla, Broad thumb, Toe syndactyly, Micromelia, Finger syndactyl...	ORPHA:87
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the dentition, Toe syndactyly, Carious teeth, Finger syndactyly, Hypoplasia of the...	ORPHA:3253
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Abnormal joint morphology, Micrognathia, Genu...	ORPHA:2753
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Finger syndactyly, Micromelia, Micrognathia, Talipes, Aplasia/Hypoplasia o...	ORPHA:1908
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Micromelia, Broad hallux, Hypoplasia of the zygomatic bone, Long philtrum, Single tra...	OMIM:614800
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	High, narrow palate, Delayed eruption of teeth, Macrodontia, Taurodontia, Short philtrum	ORPHA:3214
Vacterl With Hydrocephalus	Absence of the sacrum, Retrognathia, Abnormal form of the vertebral bodies, Micrognathia, Hypopla...	ORPHA:3412
Mosaic Trisomy 9	Limitation of joint mobility, Deep plantar creases, Finger clinodactyly, Camptodactyly of finger,...	ORPHA:99776
Jacobsen Syndrome	Micrognathia, Missing ribs, Short neck, Brachydactyly, Clinodactyly of the 5th finger, Flexion co...	OMIM:147791
Boomerang Dysplasia	Absent radius, Neonatal death, Fibular aplasia, Hypoplastic iliac body	OMIM:112310
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri...	OMIM:300009
Mosaic Trisomy 16	Craniofacial asymmetry, Short forearm, Short thumb, Clinodactyly, Wide mouth, Abnormal thorax mor...	ORPHA:1708
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Micrognathia, Microdontia	OMIM:610706
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperostosis, Taurodontia, Pulp calcification, Enamel hypoplasia, Subperiosteal bone formation	OMIM:211900
Lacrimoauriculodentodigital Syndrome	Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Micrognathia, Dysphagia, Syndacty...	ORPHA:2363
Rothmund-Thomson Syndrome Type 2	Carious teeth, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper limbs, High pala...	ORPHA:221016
Chilton-Okur-Chung Neurodevelopmental Syndrome	Ankyloglossia, Micrognathia, Broad foot, Chordee, Pes planus, Self-injurious behavior, Slender fi...	OMIM:619841
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Short neck, Abse...	OMIM:263650
Orofaciodigital Syndrome Xix	Narrow palate, Toe syndactyly, Postaxial foot polydactyly, Broad hallux, Carious teeth, Type A br...	OMIM:620107
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Short 5th finger, Open mouth, Joint hypermobility, Motor stereotypy, Tracheobronchomalacia, Scoli...	ORPHA:500159
Hydrolethalus Syndrome 1	Stillbirth, Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Median cleft upper l...	OMIM:236680
Mandibuloacral Dysplasia With Type A Lipodystrophy	Short distal phalanx of finger, Osteopenia, Dental crowding, Delayed cranial suture closure, Flex...	OMIM:248370
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Aplastic clavicle, Coronal craniosynostosis, Abnormal clavicle morphology, Short thorax, Kyphosis...	ORPHA:85199
Oliver Syndrome	Postaxial foot polydactyly, Dental malocclusion, Short toe, Prominent fingertip pads, Camptodacty...	ORPHA:2920
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Finger syndactyly, Delayed cranial suture closure, Abnormal metacar...	ORPHA:2658
Hypophosphatasia, Adult	Carious teeth, Rickets, Chondrocalcinosis, Abnormal foot morphology, Osteomalacia, Pathologic fra...	OMIM:146300
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Median cleft pal...	ORPHA:1827
Developmental And Epileptic Encephalopathy 89	Narrow chest, Microretrognathia, Long philtrum, Neonatal death, Thin upper lip vermilion, Talipes...	OMIM:619124
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Broad thumb, Finger syndactyly, Abnormal form of the vertebral bodies,...	ORPHA:794
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bone, Abnormal hip bone m...	ORPHA:1110
Prader-Willi Syndrome	Small hand, Carious teeth, Clinodactyly, Genu valgum, Narrow palm, Polyphagia, Primary amenorrhea...	OMIM:176270
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Platyspondyly, Short femoral neck, Flared metaphysis, Irregular epiphyses, Thick lower lip vermil...	OMIM:610442
Hydrolethalus	Bifid uvula, Gingival cleft, Micromelia, Unilateral cleft lip, Retrognathia, Micrognathia, Submuc...	ORPHA:2189
Neu-Laxova Syndrome	Osteomalacia, Micrognathia, Broad foot, Everted lower lip vermilion, Large hands, Osteopenia, Ric...	ORPHA:2671
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip, Absent radius	OMIM:179400
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Deformed humerus, Micrognathia, Mandibular condyle hypoplasia, Prim...	ORPHA:2975
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Small hand, Delayed cranial suture closure, 11 pairs of ribs, Micrognathia, Thick vermilion borde...	OMIM:620005
1P36 Deletion Syndrome	Delayed cranial suture closure, Narrow mouth, Polyphagia, Foot polydactyly, Short foot, Motor ste...	ORPHA:1606
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Finger syndactyly, Talipes calcaneovalgus, Micrognathia, Short neck, ...	ORPHA:818
Tibial Hemimelia	Absent tibia	OMIM:275220
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Broad clavicles, Osteopenia, Carpal osteolysis, Abnormal form of the vertebral bodies, Pterygium,...	ORPHA:371428
17Q24.2 Microdeletion Syndrome	Tooth malposition, Broad thumb, Abnormality of the ankle, Otosclerosis, Upper limb undergrowth, A...	ORPHA:529962
Acrocallosal Syndrome	Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip vermilion, Narro...	OMIM:200990
Prader-Willi Syndrome Due To Translocation	Small hand, Carious teeth, Clinodactyly, Overlapping toe, Micrognathia, Short neck, Pes planus, E...	ORPHA:177907
Chromosome 1P36 Deletion Syndrome, Distal	Polyphagia, High palate, Short foot, Dysphagia, Short 5th finger, Submucous cleft hard palate, Or...	OMIM:607872
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Interphalan...	ORPHA:69087
Andersen-Tawil Syndrome	Abnormality of the dentition, Small hand, Hypoplasia of the maxilla, Dental crowding, Persistence...	ORPHA:37553
Oncogenic Osteomalacia	Abnormal vertebral morphology, Abnormal foot morphology, Pathologic fracture, Abnormality of the ...	ORPHA:352540
Microphthalmia, Syndromic 3	Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Hypogonadotropic hypogonadism,...	OMIM:206900
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, 11 pairs of ribs, Micrognathia, 2-3 toe syndactyly, Talipes equinovarus, Clino...	OMIM:620025
Stickler Syndrome	Open bite, Genu valgum, Micrognathia, Arachnodactyly, Short hard palate, Hip dislocation, Protrus...	ORPHA:828
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Dental crowding, Sandal gap, Downturned corners of mouth, Joint hypermobility, Ara...	OMIM:617602
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Abnormal vertebral morphology, 11 pairs of ribs, Hemivertebrae	ORPHA:77298
Cranioectodermal Dysplasia 3	Rhizomelia, 2-4 toe syndactyly, Narrow chest, Sandal gap, Widely spaced teeth, Micrognathia, Join...	OMIM:614099
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip vermilion, High palate, ...	ORPHA:438216
Scarf Syndrome	Lambdoidal craniosynostosis, Pectus carinatum, Coronal craniosynostosis, Abnormal form of the ver...	OMIM:312830
Mandibuloacral Dysplasia	Dental crowding, Contractures of the large joints, Abnormal tongue morphology, Delayed cranial su...	ORPHA:2457
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Schinzel-Giedion Syndrome	Overlapping toe, Micrognathia, Overlapping fingers, Streak ovary, Radioulnar synostosis, Short ne...	ORPHA:798
Faciocardiomelic Syndrome	Osteopenia, Narrow chest, Dental malocclusion, Slender long bone, Hyperplasia of the maxilla, Lon...	OMIM:612731
Pyruvate Dehydrogenase E1-Alpha Deficiency	Pes cavus, Single transverse palmar crease, Talipes, Limb undergrowth, Flexion contracture	ORPHA:79243
Camurati-Engelmann Disease	Carious teeth, Sclerosis of skull base, Genu valgum, Diaphyseal sclerosis, Cortical thickening of...	OMIM:131300
Corneodermatoosseous Syndrome	Carious teeth, Palmoplantar keratoderma, Abnormal dental enamel morphology, Gingivitis, Abnormali...	ORPHA:3194
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Small hand, Mandibular prognathia, Short thumb, Delayed eruption of t...	OMIM:268400
Kaposiform Lymphangiomatosis	Fractures of the long bones, Abnormal scapula morphology, Osteolysis, Abnormal form of the verteb...	ORPHA:464329
Chand Syndrome	Short fifth metatarsal, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid ton...	ORPHA:1401
Odontoonychodermal Dysplasia	Smooth tongue, Widely spaced primary teeth, Agenesis of permanent teeth, Abnormality of primary t...	OMIM:257980
Vater/Vacterl Association	Abnormal vertebral morphology, Short thumb, Abnormal rib morphology, Preaxial polydactyly, Abnorm...	OMIM:192350
Wrinkly Skin Syndrome	Carious teeth, Delayed cranial suture closure, Talipes equinovarus, Pes planus, High palate, Oste...	OMIM:278250
Kindler Epidermolysis Bullosa	Carious teeth, Palmoplantar keratoderma, Finger syndactyly, Periodontitis, Camptodactyly of finge...	ORPHA:2908
Desmosterolosis	Bifid uvula, Micromelia, Retrognathia, Micrognathia, Narrow mouth, Submucous cleft hard palate, T...	ORPHA:35107
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Osteopenia, Kyphosis, Pathologic fracture, Increased susceptibility to fractures, ...	OMIM:259770
Diffuse Cutaneous Systemic Sclerosis	Carious teeth, Narrow foramen obturatorium, Dyspareunia, Arthritis, Flexion contracture, Dysphagi...	ORPHA:220393
Helsmoortel-Van Der Aa Syndrome	Small hand, Carious teeth, Ankyloglossia, Genu valgum, Polyphagia, Pes planus, Everted lower lip ...	OMIM:615873
Branchioskeletogenital Syndrome	Carious teeth, Short neck, Thoracolumbar kyphoscoliosis, Hypoplasia of the maxilla, Downturned co...	ORPHA:1299
Lacrimoauriculodentodigital Syndrome 2	Conical tooth, Carious teeth, Abnormal thumb morphology, Microdontia, Duplication of thumb phalan...	OMIM:620192
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Carious teeth, Microretrognathia, Clinodactyly, Dental malocclusion, Down-sloping shoulders, Scap...	OMIM:615560
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Narrow chest, Kyphosis, Abnormal form of the vertebral bodies, Osteolysis, Hypogonadism, Abnormal...	ORPHA:3042
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Abnormal oral mucosa morphology, Hypoplasia of the maxilla, Conical tooth, Everted upper lip verm...	OMIM:305100
Kilquist Syndrome	Pectus carinatum, Wide mouth, 2-3 toe syndactyly, Hypoplasia of teeth, Mandibular prognathia, Cox...	OMIM:619080
Aspartylglucosaminuria	Abnormal vertebral morphology, Abnormality of the dentition, Pectus carinatum, Carious teeth, Joi...	ORPHA:93
Fanconi Anemia, Complementation Group F	Absent thumb, Short thumb, 2-3 finger syndactyly, Hypoplasia of the radius, Sacral dimple	OMIM:603467
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Small hand, Downturned corners of mouth, Long philtrum, Hypoplasia...	ORPHA:444077
Holoprosencephaly 9	Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Dental malocclusion, Downturned corners ...	OMIM:610829
Absent Radius-Anogenital Anomalies Syndrome	Oligodactyly, Hypoplasia of the radius, Ectrodactyly	ORPHA:3016
Tooth Agenesis, Selective, 3	Oligodontia, Agenesis of permanent molar, Oligodontia of primary teeth, Microdontia	OMIM:604625
Schisis Association	Unilateral cleft lip, Micromelia, Cleft palate	ORPHA:63862
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Elbow dislocation, Micrognathia, Bilateral single transverse palmar c...	ORPHA:199
Fanconi Anemia, Complementation Group N	Hypoplasia of the radius, Short neck, Absent thumb, Short thumb	OMIM:610832
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Short thumb, Widely spaced teeth, Partial duplication of thumb phalanx, Enamel hyp...	OMIM:620193
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Notched primary central incisor, Cleft lip, Palmoplantar keratoderma	OMIM:620519
Pallister-Killian Syndrome	Small hand, Postaxial foot polydactyly, Delayed cranial suture closure, Micrognathia, Broad foot,...	OMIM:601803
Alg9-Cdg	Delayed cranial suture closure, Micrognathia, Talipes equinovarus, Short neck, Broad ischia, Abno...	ORPHA:79328
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Micromelia, Delayed eruption of teeth, Retrognathia, Open mouth, Deep palma...	ORPHA:1675
Singleton-Merten Syndrome 1	Shallow acetabular fossae, Carious teeth, Hypoplastic distal radial epiphyses, Genu valgum, Talip...	OMIM:182250
Neu-Laxova Syndrome 1	Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Micromelia, Radia...	OMIM:256520
Wolf-Hirschhorn Syndrome	Micrognathia, Talipes equinovarus, Radioulnar synostosis, Short hallux, Motor stereotypy, Hip dis...	OMIM:194190
C Syndrome	Toe syndactyly, Limitation of joint mobility, Micromelia, Long philtrum, Joint dislocation, Sacra...	ORPHA:1308
Short Stature, Microcephaly, And Endocrine Dysfunction	Tooth malposition, Limb undergrowth, Pes cavus, Clinodactyly	OMIM:616541
Bloom Syndrome	Azoospermia, Malar flattening, Hand polydactyly, Agenesis of maxillary lateral incisor, Decreased...	OMIM:210900
Leukocyte Adhesion Deficiency Type Ii	Overlapping toe, Gingival overgrowth, Protruding tongue, Limb undergrowth, Deep philtrum, Long up...	ORPHA:99843
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Thin upper lip vermilion, Clinodactyly of the 5th finger, Toe syndactyly, Hypoplasia of the radius	ORPHA:140952
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Delayed cranial suture closure, Persistence of primary teeth, Decreased skull ossi...	ORPHA:93325
Alg12-Cdg	Scoliosis, Sandal gap, Overlapping fingers, Micrognathia, Thin upper lip vermilion, Talipes equin...	ORPHA:79324
Limb Body Wall Complex	Progressive congenital scoliosis, Cleft lip, Broad hallux, Thoracic hypoplasia, Abnormality of th...	ORPHA:2369
Orofacial Cleft 15	Palate fistula, Single transverse palmar crease, Bilateral cleft palate, Bilateral cleft lip, Age...	OMIM:616788
Slc39A8-Cdg	Osteopenia, Cutaneous syndactyly of toes, Elbow flexion contracture, Knee flexion contracture, Li...	ORPHA:468699
Wrinkly Skin Syndrome	Congenital hip dislocation, Osteopenia, Carious teeth, Deep plantar creases, Delayed eruption of ...	ORPHA:2834
Isolated Cleft Lip	Velopharyngeal insufficiency, Macrodontia, Supernumerary maxillary incisor, Talipes equinovarus, ...	ORPHA:199302
Tooth Agenesis, Selective, 4	Tooth agenesis, Peg-shaped maxillary lateral incisors, Agenesis of permanent teeth, Abnormality o...	OMIM:150400
Chromosome 14Q11-Q22 Deletion Syndrome	Long philtrum, Micrognathia, Narrow mouth, High palate, Macroglossia, Hip subluxation, Mesomelia,...	OMIM:613457
Trichorhinophalangeal Syndrome, Type Ii	Rib exostoses, Carious teeth, Hyperplasia of the maxilla, Micrognathia, Lumbar scoliosis, Thoraco...	OMIM:150230
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Talipes calcaneovalgus, Overlapping toe, Micrognathia, Hip dislocatio...	OMIM:270400
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Macroglossia, Abnormal femoral torsion, Tibial torsion, Long foot, Long hallux, Thick vermilion b...	ORPHA:500095
Fraser Syndrome	Toe syndactyly, Dental malocclusion, Finger syndactyly, Dental crowding, Cleft upper lip, Wide pu...	ORPHA:2052
Microphthalmia, Syndromic 1	Tooth malposition, Joint contracture of the hand, Clinodactyly, High palate, Syndactyly, High, na...	OMIM:309800
Oeis Complex	Congenital hip dislocation, Absence of the sacrum, 11 pairs of ribs, Talipes equinovarus, Hemiver...	OMIM:258040
Congenital Disorder Of Glycosylation, Type Iiaa	Bilateral talipes equinovarus, Narrow chest, Short long bone, Knee flexion contracture	OMIM:620454
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Short philtrum, Downturned corners of mouth, Short long bone, Retrognathia	OMIM:301110
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Acrocephalopolydactylous Dysplasia	Craniosynostosis, Short neck, Micromelia, Postaxial hand polydactyly	OMIM:200995
Peters Plus Syndrome	Rhizomelia, Toe syndactyly, Short toe, Micromelia, Long philtrum, Cleft upper lip, Widely spaced ...	ORPHA:709
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Short long bone, Bilateral ta...	OMIM:306955
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	11 pairs of ribs	OMIM:615287

Histopathology

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

There is no histopathology data for Evc

IMPC related publications

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

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

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Evc^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Evc^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Evc^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Evc^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Evc^{tm2e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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