Gene: Fgf18 MGI:1277980

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

fibroblast growth factor 18

Synonyms:

FGF-18, D130055P09Rik

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 Fgf18 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 Fgf18 (0 diseases)
Human diseases predicted to be associated with Fgf18 (1657 diseases)

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

The table below shows human diseases predicted to be associated to Fgf18 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cervical Rib	Cervical ribs	OMIM:117900
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C...	OMIM:607778
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density	Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os...	OMIM:601376
Metaphyseal Dysplasia, Braun-Tinschert Type	Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u...	ORPHA:85188
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ...	ORPHA:2141
Acromesomelic Dysplasia 2A	Stillbirth, Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humeru...	OMIM:200700
Otopalatodigital Syndrome, Type Ii	Pectus excavatum, Radial deviation of the 2nd finger, Cleft palate, Femoral bowing, Congenital hi...	OMIM:304120
Multiple Epiphyseal Dysplasia Type 4	High palate, Short metacarpal, Cleft palate, Upper limb undergrowth, Arthralgia of the hip, Abnor...	ORPHA:93307
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec...	OMIM:600081
Ulnar Hemimelia	Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia...	ORPHA:93320
Leri-Weill Dyschondrosteosis	High palate, Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hy...	OMIM:127300
Osebold-Remondini Syndrome	Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short...	OMIM:112910
Brachydactyly Type A1	Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h...	ORPHA:93388
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi...	OMIM:264700
Spondyloperipheral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Barrel-shaped chest, Platyspondyly, Shortenin...	OMIM:271700
Léri-Weill Dyschondrosteosis	Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ...	ORPHA:240
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat...	OMIM:600785
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Tibial bowing, Wide anterior fontanel, Dentinogenesis imperfecta, Thin ribs,...	OMIM:259420
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Premature loss of teeth, Metaphyseal dysplasia, Thin vermilion border, Flared metaphysis, Short p...	OMIM:156510
Ophthalmomandibulomelic Dysplasia	Radial bowing, Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Abnormal thora...	OMIM:164900
Spondyloepimetaphyseal Dysplasia, Missouri Type	Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ...	OMIM:602111
Atelosteogenesis, Type Iii	Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Cleft palate, Malar flatteni...	OMIM:108721
Kniest Dysplasia	Respiratory distress, Enlarged joints, Pectus excavatum, Cleft palate, Hypoplastic pelvis, Rhizom...	OMIM:156550
Fibular Hemimelia	Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma...	ORPHA:93323
Metatropic Dysplasia	Narrow chest, Kyphosis, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of ...	ORPHA:2635
Brachyolmia Type 1, Hobaek Type	Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop...	OMIM:271530
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ...	OMIM:118651
Syndactyly Type 4	Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ...	ORPHA:93405
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr...	ORPHA:1856
Osteogenesis Imperfecta, Type Ii	Recurrent fractures, Tibial bowing, Beaded ribs, Thin ribs, Respiratory insufficiency, Wormian bo...	OMIM:166210
Heart Defects-Limb Shortening Syndrome	Narrow chest, Kyphosis, Mesomelic/rhizomelic limb shortening, Abnormal form of the vertebral bodi...	ORPHA:1354
Spondylometaphyseal Dysplasia, Kozlowski Type	Abnormal humeral metaphysis morphology, Pectus carinatum, Premature osteoarthritis, Limb joint co...	ORPHA:93314
Atelosteogenesis, Type I	Aplasia/Hypoplasia of the ulna, Cleft palate, 11 pairs of ribs, Rhizomelia, Multinucleated giant ...	OMIM:108720
Acromesomelic Dysplasia 2C	Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr...	OMIM:201250
Vitamin D-Dependent Rickets, Type 2A	Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi...	OMIM:277440
Osteogenesis Imperfecta, Type Viii	Recurrent fractures, Tibial bowing, Radial bowing, Wide anterior fontanel, Dentinogenesis imperfe...	OMIM:610915
Weismann-Netter Syndrome	Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo...	ORPHA:3344
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Progeroid facial appearance, Slender long bones with narrow diaphyses, Abnormal rib cage morpholo...	OMIM:608154
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Cleft palate, Abnormally ossified vertebrae, Flared femoral metaphysis, Sandal g...	ORPHA:1427
Osteolysis Syndrome, Recessive	Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan...	OMIM:259610
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec...	OMIM:241530
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Dental malocclusion, Nar...	OMIM:608940
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation...	OMIM:618395
Langer Mesomelic Dysplasia	Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognat...	OMIM:249700
Dyggve-Melchior-Clausen Disease	Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha...	OMIM:223800
Kyphomelic Dysplasia	Cleft palate, Femoral bowing, Micromelia, Pterygium, Dumbbell-shaped humerus, Thoracic hypoplasia...	OMIM:211350
Congenital Absence Of Upper Arm And Forearm With Hand Present	Abnormal hip bone morphology, Upper limb phocomelia, Abnormality of the vertebral column, Syndact...	ORPHA:294975
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, Micrognathia...	ORPHA:3035
Spondyloepimetaphyseal Dysplasia, Missouri Type	Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened...	ORPHA:93356
Microcephaly-Micromelia Syndrome	Narrow chest, Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Short tibia, Micrognath...	OMIM:251230
Mesomelic Limb Shortening And Bowing	Bowing of the legs, Mesomelic leg shortening, Cleft palate, Retrognathia, Micrognathia, Camptodac...	OMIM:249710
Metaphyseal Acroscyphodysplasia	Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ...	OMIM:250215
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Hypoplasia of the radius, Hemivertebrae, Short neck, Rudimentary fi...	ORPHA:958
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Short 1st metacarpal, Cone-shaped epiphysis, Microdontia, Proximal femoral epiphysiolysis, Distal...	OMIM:210720
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Abnormality of the dentition, Pectus carinatum, Radioulnar synost...	ORPHA:3268
Acromesomelic Dysplasia, Grebe Type	Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydacty...	ORPHA:2098
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Bil...	ORPHA:1972
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis	High palate, Joint stiffness, Tibial bowing, Narrow mouth, Pursed lips, Flexion contracture, Abse...	OMIM:245160
Weismann-Netter Syndrome	Calvarial hyperostosis, Fibular bowing, Lateral femoral bowing, Delayed eruption of permanent tee...	OMIM:112350
Shox-Related Short Stature	Forearm undergrowth, High palate, Tibial bowing, Micrognathia, Genu valgum, Cubitus valgus, Short...	ORPHA:314795
Atelosteogenesis, Type Ii	Horizontal sacrum, Short neck, Micromelia, Platyspondyly, Sandal gap, Pulmonary hypoplasia, Thora...	OMIM:256050
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone resorption, Sparse bone trabec...	ORPHA:289157
Microphthalmia With Limb Anomalies	High palate, Cleft upper lip, Tibial bowing, Talipes equinovarus, Hand oligodactyly, Cleft palate...	OMIM:206920
Ulnar Hypoplasia	Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad...	OMIM:191440
Multiple Epiphyseal Dysplasia, Lowry Type	Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati...	ORPHA:166016
Dyggve-Melchior-Clausen Syndrome, X-Linked	Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Lumbar hyperlordosis, Prominent st...	OMIM:304950
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	High palate, Cleft palate, Delayed proximal femoral epiphyseal ossification, 11 pairs of ribs, Ge...	OMIM:271640
Parastremmatic Dwarfism	Kyphosis, Flexion contracture, Short neck, Scoliosis, Genu valgum, Bowing of the long bones	OMIM:168400
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the radius, Micrognathia, Short 5th finger, Neonatal death, Hypoplasia of the ulna,...	OMIM:227270
Blount Disease	Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the proximal tibial epiphysi...	ORPHA:2768
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Intestinal malrot...	OMIM:617866
Hypophosphatemic Rickets, X-Linked Dominant	Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal distal femoral condyles,...	OMIM:307800
Angioosteohypotrophic Syndrome	Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upper limb undergrowth, Thin bo...	ORPHA:75508
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Vertebral segmentation defect, Abnormal hip bone morphology, Camptodactyly of finger, Abnormal lu...	ORPHA:2631
Acromesomelic Dysplasia, Maroteaux Type	Sprengel anomaly, Kyphosis, Beaking of vertebral bodies, Joint stiffness, Brachydactyly, Scoliosi...	ORPHA:40
Metatropic Dysplasia	Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the femoral trochante...	OMIM:156530
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat...	OMIM:228930
Grant Syndrome	Micrognathia, Tibial bowing, Down-sloping shoulders, Wormian bones	OMIM:138930
Spondylometaphyseal Dysplasia, Type A4	Sclerotic humeral metaphysis, Metaphyseal irregularity, Irregular capital femoral epiphysis, Broa...	OMIM:609052
Ulnar Hypoplasia With Mental Retardation	Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement, Limitation of knee mobility	OMIM:276821
Postaxial Oligodactyly, Tetramelic	Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ...	OMIM:176240
Marshall Syndrome	Macrodontia of permanent maxillary central incisor, Cleft palate, Clinodactyly of the 4th finger,...	OMIM:154780
Pallister W Syndrome	Radial bowing, Agenesis of central incisor, Joint contracture of the hand, Pes cavus, Camptodacty...	OMIM:311450
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Joint stiffness, Arachnodactyly, Scoliosis, Bilateral single transverse palmar creases,...	ORPHA:1548
Stuve-Wiedemann Syndrome 1	Enlarged joints, Apnea, Pursed lips, Femoral bowing, Ulnar deviation of finger, Carious teeth, Si...	OMIM:601559
Ulna Hypoplasia-Intellectual Disability Syndrome	Joint stiffness, Hypoplasia of the radius, Broad hallux phalanx, Micromelia, Ulnar deviation of f...	ORPHA:2249
Robinow Syndrome, Autosomal Recessive 1	Dental crowding, Wide mouth, Pectus excavatum, Triangular mouth, Hypoplasia of the radius, Duplic...	OMIM:268310
Dysostosis, Stanescu Type	Tooth agenesis, Pectus excavatum, Increased bone mineral density, Massively thickened long bone c...	ORPHA:1798
Mental Retardation Syndrome, Mietens-Weber Type	Forearm undergrowth, Dislocated radial head, Pes planus, Elbow flexion contracture, Absent proxim...	OMIM:249600
Osteosclerosis With Ichthyosis And Fractures	Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi...	OMIM:166740
Aarskog-Scott Syndrome	Pectus excavatum, Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Single t...	ORPHA:915
W Syndrome	Radial bowing, Pes cavus, Camptodactyly, Hypoplasia of the ulna, Pes planus, Broad uvula, Cubitus...	ORPHA:2804
Metaphyseal Chondrodysplasia, Schmid Type	Short distal phalanx of finger, Metaphyseal irregularity, Metaphyseal cupping of proximal phalang...	OMIM:156500
Multicentric Carpotarsal Osteolysis Syndrome	Ulnar deviation of the hand, Metatarsal osteolysis, Osteopenia, Micrognathia, Pes cavus, Bilatera...	OMIM:166300
Metaphyseal Chondrodysplasia, Schmid Type	Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ...	ORPHA:174
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Recurrent fractures, Small abnormally formed scapulae, Tibial...	ORPHA:140
Geroderma Osteodysplasticum	Recurrent fractures, Tibial bowing, Periodontitis, Progeroid facial appearance, Malar flattening,...	OMIM:231070
Van Den Ende-Gupta Syndrome	High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Femoral bowing, Narrow foot, Taper...	OMIM:600920
Acromesomelic Dysplasia 4	Broad phalanx, Prominent sternum, Broad finger, Genu valgum, Rhizomelia, Sandal gap, Mandibular p...	OMIM:619636
Temtamy Preaxial Brachydactyly Syndrome	Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A...	ORPHA:363417
Holt-Oram Syndrome	Aplasia of the ulna, Short clavicles, Thoracic scoliosis, Pectus excavatum, Absent thumb, Hypopla...	OMIM:142900
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Torus palatinus, Clavicular sclerosis, Abnormal rib morphology, Genera...	ORPHA:2790
Boomerang Dysplasia	Narrow chest, Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of...	ORPHA:1263
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,...	OMIM:612447
Odontochondrodysplasia 1	Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromelia, Pectus carinatum, ...	OMIM:184260
Autosomal Recessive Distal Osteolysis Syndrome	Short distal phalanx of finger, Abnormality of the dentition, Osteolysis, Hypoplasia of the maxilla	ORPHA:2776
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Hypoplasia of the ulna, Hypoplastic pelvis, R...	ORPHA:2616
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol...	ORPHA:2634
Axial Spondylometaphyseal Dysplasia	Osteopenia, Platyspondyly, Upper limb undergrowth, Flared, irregular rib ends, Thoracic hypoplasi...	ORPHA:168549
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Narrow chest, Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Later...	OMIM:208500
Campomelic Dysplasia	High palate, Poorly ossified cervical vertebrae, Respiratory distress, Apnea, Cleft palate, Femor...	OMIM:114290
Jeune Syndrome	Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Cone-shaped epiphysis, M...	ORPHA:474
Grant Syndrome	Sprengel anomaly, Narrow chest, Joint dislocation, Open bite, Abnormality of the glenoid fossa, M...	ORPHA:2097
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Radial bowing, Limited pronation/supination of forearm, Madelung deformity	DECIPHER:58
Pycnodysostosis	High palate, Abnormal clavicle morphology, Abnormality of the dentition, Carious teeth, Rhizomeli...	ORPHA:763
Metaphyseal Chondrodysplasia, Spahr Type	Metaphyseal dysplasia, Reduced bone mineral density, Abnormality of the dentition, Genu varum, Sh...	ORPHA:2501
Jackson-Weiss Syndrome	2-3 toe syndactyly, Short metatarsal, Split foot, Broad hallux phalanx, Symphalangism affecting t...	ORPHA:1540
Premature Aging Syndrome, Penttinen Type	Thin vermilion border, Osteopenia, Micrognathia, Delayed cranial suture closure, Brachydactyly, D...	OMIM:601812
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Lateral clavicle hook, Malar flatteni...	OMIM:171480
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Delayed eruption of teeth, Thin metacarpal cortices, Thin bony cortex, C1-C2 subluxat...	OMIM:259600
Microphthalmia With Limb Anomalies	High palate, Cleft palate, Macrodontia, Abnormality of the upper limb, Sandal gap, Hypoplasia of ...	ORPHA:1106
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia, Polydactyly, Syndactyly, Short tibia	OMIM:300484
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphosis, Abnormal bone ossification...	ORPHA:2114
Split-Hand/Foot Malformation 3	High palate, Narrow mouth, Microretrognathia, Cleft palate, Camptodactyly, Hypoplasia of the maxi...	OMIM:246560
Mohr Syndrome	High palate, Pectus excavatum, Cleft palate, Lobulated tongue, Tongue nodules, Hypoplasia of the ...	OMIM:252100
Hypophosphatemic Rickets, X-Linked Recessive	Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec...	OMIM:300554
Acromesomelic Dysplasia 1	Broad metacarpals, Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Long hallux...	OMIM:602875
Lujan-Fryns Syndrome	High palate, Pectus excavatum, Arachnodactyly, Abnormality of the dentition, Camptodactyly of fin...	ORPHA:776
Multiple Synostoses Syndrome 1	Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalang...	OMIM:186500
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	High palate, Slender finger, Cleft palate, Abnormality of the dentition, Short philtrum, Osteopen...	ORPHA:251028
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Micromelia, Upper limb undergrowth, Pectus carinatum, Hypoplastic pelvis, Genu val...	ORPHA:93351
Acrodysostosis	Short toe, Abnormal morphology of ulna, Open bite, Hypoplasia of the radius, Cone-shaped epiphysi...	ORPHA:950
Blount Disease, Adolescent	Bowing of the legs, Osteochondritis dissecans, Genu varum	OMIM:259200
Caffey Disease	Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Calvarial hyperos...	OMIM:114000
Achondrogenesis, Type Ia	Hypoplastic sacrum, Hypoplasia of the radius, Barrel-shaped chest, Short neck, Micromelia, Pulmon...	OMIM:200600
Kyphomelic Dysplasia	Narrow chest, Joint stiffness, Undulate ribs, Micrognathia, Anterior rib cupping, Micromelia, Abn...	ORPHA:1801
Shprintzen-Goldberg Craniosynostosis Syndrome	High palate, Pectus excavatum, Craniosynostosis, Osteopenia, Pectus carinatum, Genu valgum, Hypop...	OMIM:182212
Eiken Syndrome	Abnormal fingertip morphology, Thin bony cortex, Epiphyseal dysplasia, Metaphyseal irregularity, ...	ORPHA:79106
Melnick-Needles Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Cleft palate, Delayed erupt...	OMIM:309350
Stickler Syndrome Type 1	Cleft palate, Osteoarthritis, Long philtrum, Abnormality of vertebral epiphysis morphology, Abnor...	ORPHA:90653
Hydrocephalus With Associated Malformations	Tibial bowing, Intestinal malrotation, Micrognathia, Short lower limbs, Abnormal foot morphology,...	OMIM:236640
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Clinodactyly of the 5th finger, Radial bowing, Limited pronation/supination of forearm, Petechiae...	OMIM:605432
Arthrogryposis, Distal, Type 1C	High palate, Metacarpophalangeal joint contracture, Narrow mouth, Clinodactyly of the 5th finger,...	OMIM:619110
Distal Limb Deficiencies-Micrognathia Syndrome	High palate, Narrow mouth, Microretrognathia, Abnormal morphology of ulna, Cleft palate, Split fo...	ORPHA:1307
Achondrogenesis Type 2	Narrow chest, Abnormal bone ossification, Unossified sacrum, Delayed proximal femoral epiphyseal ...	ORPHA:93296
Greenberg Dysplasia	Anterior rib punctate calcifications, Barrel-shaped chest, Micromelia, 11 pairs of ribs, Rhizomel...	OMIM:215140
Van Maldergem Syndrome 1	High palate, Short fourth metatarsal, Osteopenia, Tented upper lip vermilion, Hypoplasia of the m...	OMIM:601390
Immunodeficiency 43	Bronchiectasis, Radial bowing, Hypoplasia of the ulna, Recurrent respiratory infections	OMIM:241600
Holt-Oram Syndrome	Sprengel anomaly, Kyphosis, Joint stiffness, Pectus excavatum, Anomalous pulmonary venous return,...	ORPHA:392
Arms, Malformation Of	Hypoplasia of the radius, Hypoplasia of the ulna, Radioulnar synostosis	OMIM:107900
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Broad hallux, Genu valgum, Rhizomelia, Thoracic hypoplasia, Short long bone, Meta...	OMIM:618019
Pseudoachondroplasia	Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma...	OMIM:177170
Ritscher-Schinzel Syndrome 3	Wide anterior fontanel, Shortening of all distal phalanges of the fingers, Short 1st metacarpal, ...	OMIM:619135
Van Maldergem Syndrome 2	High palate, Short fourth metatarsal, Osteopenia, Tented upper lip vermilion, Hypoplasia of the m...	OMIM:615546
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora...	OMIM:609223
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet	Hypoplasia of the ulna, Short finger, Syndactyly, Split foot	OMIM:314360
Meier-Gorlin Syndrome 1	High palate, Respiratory distress, Cleft palate, Absent glenoid fossa, Microdontia, Pectus carina...	OMIM:224690
Acrorenal-Mandibular Syndrome	Hypoplasia of the radius, Hemivertebrae, Rudimentary fibula, Hypoplasia of the ulna, Pulmonary hy...	OMIM:200980
Congenital Disorder Of Glycosylation, Type Ig	Butterfly vertebrae, Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Shor...	OMIM:607143
Craniometadiaphyseal Dysplasia	High palate, Wide anterior fontanel, Sclerosis of skull base, Malar flattening, Osteopenia, Flare...	OMIM:269300
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	High palate, Barrel-shaped chest, Hypoplasia of the capital femoral epiphysis, Delayed eruption o...	OMIM:143095
Craniometadiaphyseal Dysplasia, Wormian Bone Type	High palate, Obtuse angle of mandible, Wide anterior fontanel, Increased bone mineral density, Ma...	ORPHA:85184
Frontonasal Dysplasia 1	Median cleft palate, Joint contracture of the hand, Brachydactyly, Camptodactyly, Postaxial hand ...	OMIM:136760
Thoracic Dysostosis, Isolated	Pectus excavatum, Bell-shaped thorax, Short ribs	OMIM:187750
Cartilage-Hair Hypoplasia	Abnormally ossified vertebrae, Micromelia, Pectus carinatum, Rhizomelia, Abnormal epiphysis morph...	ORPHA:175
Cohen Syndrome	Thoracic scoliosis, Macrodontia of permanent maxillary central incisor, High, narrow palate, Join...	OMIM:216550
Mesomelic Dysplasia, Savarirayan Type	Dislocated radial head, Short tibia, Talipes equinovalgus, Abnormal thorax morphology, Mesomelia,...	OMIM:605274
Nager Syndrome	Wide mouth, Joint stiffness, Cleft palate, Hypoplasia of the radius, Micrognathia, Respiratory in...	ORPHA:245
Diastrophic Dysplasia	Abnormal clavicle morphology, Micromelia, Symphalangism affecting the phalanges of the hand, Ulna...	ORPHA:628
Carpenter Syndrome 1	High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Genu valgum, Sagittal cranio...	OMIM:201000
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Narrow greate...	ORPHA:93316
Maxillonasal Dysplasia	Short distal phalanx of finger, Tooth agenesis, Cleft palate, Open bite, Microdontia, Hypoplasia ...	ORPHA:1248
Ulnar Hypoplasia-Split Foot Syndrome	Split hand, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split foot	ORPHA:1122
Pde4D Haploinsufficiency Syndrome	Broad phalanx, Cone-shaped epiphysis, Short philtrum, Upper limb undergrowth, Broad hallux, Hypop...	ORPHA:439822
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Hypoplasia of the radius, Short tibia, Pseudoarthrosis	OMIM:156230
Kdm5C-Related Syndromic X-Linked Intellectual Disability	High palate, Talipes equinovarus, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxi...	ORPHA:85279
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Miscarriage, Absent glenoid fo...	ORPHA:96334
Spondyloepimetaphyseal Dysplasia, Irapa Type	Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy...	OMIM:271650
Congenital Insensitivity To Pain With Severe Intellectual Disability	Recurrent fractures, Tibial bowing, Osteomyelitis, Micrognathia, Talipes equinovalgus, Congenital...	ORPHA:453510
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Pectus excavatum, Craniosynostosis, Hypoplasia of the radius, Short neck, Hypoplasia of the ulna,...	OMIM:609945
Cenani-Lenz Syndrome	Hypoplasia of the radius, Micromelia, Synostosis of carpal bones, Short thumb, Radioulnar synosto...	ORPHA:3258
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	High palate, Narrow chest, Abnormal femoral neck/head morphology, Wide anterior fontanel, Abnorma...	ORPHA:163649
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Postaxial polydactyly, Short philtrum, Diastema, Limb undergrowth, Long ...	OMIM:619142
Ivic Syndrome	Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of...	OMIM:147750
Martsolf Syndrome 1	High palate, Pectus excavatum, Finger joint hypermobility, Short philtrum, Pectus carinatum, Broa...	OMIM:212720
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Brachydact...	ORPHA:52056
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	High palate, Corner fracture of metaphysis, Abnormality of the dentition, Upper limb undergrowth,...	ORPHA:93315
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Narrow chest, Wide anterior fontanel, Flexion contracture, Malar flattening, Arachnodactyly, Femo...	OMIM:207410
Phocomelia, Schinzel Type	Aplasia of the ulna, Ectrodactyly, Anal atresia, Radial bowing, High, narrow palate, Hand oligoda...	ORPHA:2879
Dent Disease 1	Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec...	OMIM:300009
Van Bogaert-Hozay Syndrome	Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hypoplasia	OMIM:277150
Thoracomelic Dysplasia	Short ribs, Bell-shaped thorax	OMIM:273740
Andersen Cardiodysrhythmic Periodic Paralysis	High palate, Cleft palate, Small finger, Hypoplasia of the maxilla, Clinodactyly of the 5th finge...	OMIM:170390
Acheiropody	Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h...	OMIM:200500
20P12.3 Microdeletion Syndrome	Narrow mouth, Malar flattening, Broad hallux phalanx, Long philtrum, Pectus carinatum, Broad thum...	ORPHA:261295
Craniofacial-Deafness-Hand Syndrome	Narrow mouth, Camptodactyly of finger, Ulnar deviation of the wrist, Ulnar deviation of finger, A...	ORPHA:1529
Mueller-Weiss Syndrome	Talipes calcaneovarus, Joint stiffness, Edema of the dorsum of feet, Sclerosis of foot bone, Limi...	ORPHA:566943
Coffin-Lowry Syndrome	High palate, Wide mouth, Pectus excavatum, Broad finger, Delayed eruption of teeth, Tapered finge...	ORPHA:192
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Narrow chest, Short ribs, Horizontal ribs, Death in infancy, Lateral clavicle hook	OMIM:617405
Autosomal Recessive Hypophosphatemic Rickets	Rickets of the lower limbs, Coxa vara, Tibial bowing, Distal femoral bowing, Malabsorption, Pseud...	ORPHA:289176
Acromesomelic Dysplasia 3	Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac...	OMIM:609441
Metaphyseal Anadysplasia	Joint stiffness, Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypop...	ORPHA:1040
Achondrogenesis Type 1B	Narrow chest, Talipes equinovarus, Micrognathia, Short neck, Micromelia, Abnormal rib morphology,...	ORPHA:93298
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Abnormal hip bone morphology, Micrognathia, Short neck, Abnormal form of the...	ORPHA:1486
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiphyses of...	ORPHA:397973
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Narrow chest, Abnormal clavicle morphology, Micrognathia, Short philtrum, Downturned corners of m...	ORPHA:93267
Bullous Dystrophy, Hereditary Macular Type	Death in childhood, Acrocyanosis, Tapered finger, Short finger	OMIM:302000
Orofaciodigital Syndrome Type 10	Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Short t...	ORPHA:2756
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short long bone, Short ri...	OMIM:613091
Dyssegmental Dysplasia, Silverman-Handmaker Type	Talipes equinovarus, Micrognathia, Neonatal death, Anisospondyly, Thoracic hypoplasia, Pulmonary ...	OMIM:224410
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Distal ulnar epiphyseal stippl...	OMIM:609616
Pyle Disease	Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Delayed eruption of te...	OMIM:265900
Spondylometaphyseal Dysplasia, Axial	Narrow chest, Coxa vara, Narrow greater sciatic notch, Platyspondyly, Anterior rib cupping, Short...	OMIM:602271
Keipert Syndrome	Short distal phalanx of finger, Clinodactyly of the 5th finger, Broad hallux phalanx, Broad dista...	ORPHA:2662
Mesomelic Dysplasia, Kantaputra Type	Mesomelia, Carpal synostosis, Radial bowing, Tarsal synostosis	OMIM:156232
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min...	OMIM:617974
Rhyns Syndrome	Osteopenia, Radial bowing, Brachydactyly, Short femoral neck	OMIM:602152
Fibrochondrogenesis 1	Cleft palate, Rhizomelia, Posterior rib cupping, Dumbbell-shaped long bone, Short long bone, Thor...	OMIM:228520
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Congenital Radioulnar Synostosis	Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn...	ORPHA:3269
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities	Micrognathia, Syndactyly, Neonatal death, Hypoplasia of the ulna, Mesomelia	OMIM:228940
Dyschondrosteosis And Nephritis	Radial bowing, Short tibia, Madelung deformity, Ulnar bowing, Short forearm	OMIM:127350
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ...	ORPHA:1986
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Genu valgum...	ORPHA:2972
Mietens Syndrome	Coxa vara, Joint stiffness, Clinodactyly of the 5th finger, Coxa valga, Elbow ankylosis, Hypoplas...	ORPHA:2557
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia, Thoracic hypoplasia, Upper limb undergrowth	OMIM:613124
Tibial Torsion, Bilateral Medial	Bowing of the legs, Tibial torsion	OMIM:188800
Pfeiffer Syndrome	High palate, Elbow ankylosis, Coronal craniosynostosis, Syndactyly, Short middle phalanx of toe, ...	OMIM:101600
Winchester Syndrome	Broad metacarpals, Kyphosis, Generalized osteoporosis, Carpal osteolysis, Osteolysis involving ta...	OMIM:277950
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	High palate, Hip contracture, Advanced ossification of carpal bones, Tooth agenesis, Microretrogn...	OMIM:618363
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	High palate, Osteopenia, Delayed eruption of teeth, Tapered finger, Flat capital femoral epiphysi...	OMIM:612350
8Q22.1 Microdeletion Syndrome	Craniosynostosis, Abnormality of the dentition, Camptodactyly of finger, Long philtrum, Sandal ga...	ORPHA:178303
Ulna And Fibula, Hypoplasia Of	Hypoplasia of the ulna, Fibular hypoplasia	OMIM:191400
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	High palate, Prominent sternum, Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Decrea...	OMIM:276820
Osteogenesis Imperfecta, Type Xxi	Coxa vara, Bowing of the legs, Recurrent fractures, Pectus excavatum, Barrel-shaped chest, Bowing...	OMIM:619131
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Achondrogenesis Type 1A	Narrow chest, Recurrent fractures, Multiple rib fractures, Micrognathia, Short neck, Micromelia, ...	ORPHA:93299
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Overlapping toe, Kyphosis, Clinodactyly of the 5th finger, Camptodactyly, Short thumb	OMIM:618453
Short Rib-Polydactyly Syndrome	Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Thoracic hypoplasia...	ORPHA:1505
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Microdontia, Aplasia/Hypoplasia of the radius, Madelung deformity, Uln...	ORPHA:1765
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Short distal phalanx of finger, Brachydactyly, Wormian bones, Osteoporosis, Joint hyperflexibility	ORPHA:2787
Multiple Epiphyseal Dysplasia With Robin Phenotype	Pectus excavatum, Cleft palate, Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhizome...	OMIM:601560
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal	Proximal humeral metaphyseal irregularity, Ulnar deviation of the hand, Long clavicles, Hypoplasi...	OMIM:602613
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta	Dentinogenesis imperfecta, Asymmetry of the thorax, Thin ribs, Epiphyseal streaking, Clinodactyly...	OMIM:604922
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	High palate, 2-3 toe syndactyly, Flexion contracture, Long fingers, Tapered finger, Hypoplasia of...	OMIM:218000
Atelosteogenesis Type Iii	Abnormality of the humerus, Patellar dislocation, Hand clenching, Thoracic hypoplasia, Elbow disl...	ORPHA:56305
Shprintzen-Goldberg Syndrome	Narrow chest, Joint stiffness, Apnea, Pectus excavatum, High, narrow palate, Craniosynostosis, Ar...	ORPHA:2462
Ulnar/Fibular Ray Defect And Brachydactyly	Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower limb asymmetry, Unila...	OMIM:608571
Cleidocranial Dysplasia	Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruption of teeth, Ta...	ORPHA:1452
Satb2-Associated Syndrome Due To A Pathogenic Variant	High palate, Clinodactyly of the 5th finger, Cleft palate, Abnormality of the dentition, Osteopen...	ORPHA:576283
Craniodiaphyseal Dysplasia	Abnormal rib morphology, Craniofacial hyperostosis, Diaphyseal thickening	ORPHA:1513
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Talipes equinovarus, Micrognathia, Overlapping fingers, Pul...	OMIM:616531
Cyanosis And Hepatic Disease	Dyspnea, Cyanosis, Clubbing	OMIM:219400
Spondyloepimetaphyseal Dysplasia, X-Linked	Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Hypoplasia o...	OMIM:300106
Mesomelic Dysplasia, Kantaputra Type	Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali...	ORPHA:1836
Platyspondylic Dysplasia, Torrance Type	Narrow chest, Short distal phalanx of finger, Metaphyseal cupping, Platyspondyly, Micromelia, Hyp...	ORPHA:85166
Osteogenesis Imperfecta, Type Ix	Kyphosis, Recurrent fractures, Pectus excavatum, Decreased calvarial ossification, Platyspondyly,...	OMIM:259440
Thrombocytopenia-Absent Radius Syndrome	Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Adducted thumb...	ORPHA:3320
Hypophosphatasia	Narrow chest, Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Respiratory in...	ORPHA:436
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Talipes equinovarus, Congenital bilateral hip dislocation, Recurrent respiratory infect...	ORPHA:85288
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Ankle flexion contracture, Internally rotated shoulders, Talipes equinovarus, Fl...	OMIM:617468
Dyggve-Melchior-Clausen Disease	Broad carpal bones, Short neck, Platyspondyly, Hypoplasia of the capital femoral epiphysis, Pectu...	ORPHA:239
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow chest, Narrow greater sciatic notch, Short ribs, Postaxial polydactyly, Preaxial polydacty...	OMIM:617925
Aarskog-Scott Syndrome	Cleft upper lip, Pectus excavatum, Hypodontia, Cleft palate, Hyperextensibility of the finger joi...	OMIM:305400
Cenani-Lenz Syndactyly Syndrome	Hypoplasia of the radius, Micrognathia, Syndactyly, Hypoplasia of the ulna	OMIM:212780
Spondyloepiphyseal Dysplasia Tarda	Abnormally ossified vertebrae, Barrel-shaped chest, Short neck, Platyspondyly, Biconcave vertebra...	ORPHA:93284
Smith-Mccort Dysplasia 1	Metaphyseal irregularity, Multicentric femoral head ossification, Kyphosis, Prominent sternum, Be...	OMIM:607326
Brachydactyly, Type B1	Wide anterior fontanel, Joint contracture of the hand, Delayed cranial suture closure, Syndactyly...	OMIM:113000
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Bowing of the legs, Pectus excavatum, Metaphyseal spurs, Dysplastic iliac wing, Short long bone, ...	OMIM:608728
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Tibial bowing, Hand oligodactyly, Short tibia, Abnormality of the hand, Syndactyly, Foot oligodac...	OMIM:246570
Heart-Hand Syndrome Type 2	Abnormal palate morphology, Joint stiffness, Abnormal clavicle morphology, Abnormal morphology of...	ORPHA:1350
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Narrow chest, Lateral clavicle hook, Postaxial polydactyly, Brachydactyly, Bell-shaped thorax, Ho...	OMIM:615633
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Narrow chest, Short ribs, Hypoplasia of the radius, Hypoplastic ilia, Postaxial polydactyly, Micr...	OMIM:617895
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Ectrodactyly, Upper limb phocomelia, Radial club hand, Short humerus, Long philtrum, Hypoplasia o...	ORPHA:2878
Spondylocostal Dysostosis 3, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Kyphosis, Supernumerary vertebral ossification centers...	OMIM:609813
Achondroplasia	Limited hip extension, Bowing of the legs, Malar flattening, Generalized joint laxity, Flared met...	OMIM:100800
Atelosteogenesis Type Ii	Broad phalanx, Short neck, Micromelia, Rhizomelic arm shortening, Upper limb undergrowth, Dumbbel...	ORPHA:56304
Craniosynostosis-Mental Retardation-Clefting Syndrome	Forearm undergrowth, Lower limb undergrowth, Craniosynostosis	OMIM:218650
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Abnormality of finger, Large iliac wing, Pectus excavatum, Malar flattening, Delayed cranial sutu...	ORPHA:2511
Diastrophic Dysplasia	Cervical kyphosis, Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Talipes equinovarus, Hy...	OMIM:222600
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Broad phalanx, Pectus excavatum, Platyspondyly, Micromelia, C1-C2 subluxation, Hip subluxation, P...	OMIM:271665
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia...	ORPHA:3329
Hypophosphatasia, Childhood	Bowing of the legs, Craniosynostosis, Premature loss of primary teeth, Rachitic rosary, Carious t...	OMIM:241510
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Subcutaneous calcification, Radial bowing	OMIM:617993
Hao-Fountain Syndrome	Clinodactyly of the 5th finger, Central sleep apnea, Delayed cranial suture closure, Hallux valgu...	OMIM:616863
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	High palate, Prominent sternum, Cone-shaped capital femoral epiphysis, Small epiphyses, Flared il...	OMIM:300232
Melnick-Needles Syndrome	Short distal phalanx of finger, Narrow chest, Cone-shaped epiphyses of the phalanges of the hand,...	ORPHA:2484
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Aplasia/Hypoplasia of the fibula, Micrognathia, Aplasia of the proximal phalanges of the hand, Hy...	ORPHA:2256
Diamond-Blackfan Anemia 11	Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna, Abnormal d...	OMIM:614900
Acrofacial Dysostosis Syndrome Of Rodriguez	Overlapping toe, Talipes equinovarus, Short tibia, Micrognathia, 11 pairs of ribs, Single transve...	OMIM:201170
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Malar flattening, Respiratory insufficiency, Brachydactyly, Abnormal metacarpal morphology, Hypop...	ORPHA:93262
Dyssegmental Dysplasia With Glaucoma	Delayed epiphyseal ossification, Wide anterior fontanel, Hip contracture, Cleft palate, Malar fla...	OMIM:601561
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Short distal phalanx of finger, High palate, Talipes calcaneovarus, Pectus excavatum, Talipes equ...	OMIM:300534
Spondylocostal Dysostosis 1, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ...	OMIM:277300
Cohen Syndrome	Pectus excavatum, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Short philtrum,...	ORPHA:193
Symbrachydactyly Of Hands And Feet	Vertebral segmentation defect, Abnormality of the humeroulnar joint, Abnormal morphology of ulna,...	ORPHA:1570
Oculodentodigital Dysplasia, Autosomal Recessive	Abnormal dental enamel morphology, Dental malocclusion, Narrow mouth, Macrodontia of permanent ma...	OMIM:257850
Ghosal Hematodiaphyseal Dysplasia	Abnormality of femur morphology, Craniofacial hyperostosis, Abnormality of tibia morphology, Bowi...	ORPHA:1802
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Ear-Patella-Short Stature Syndrome	Respiratory distress, Cleft palate, Craniosynostosis, Abnormal epiphysis morphology, Hypoplasia o...	ORPHA:2554
Mesomelic Dysplasia, Savarirayan Type	Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen...	ORPHA:85170
Myhre Syndrome	Joint stiffness, Narrow mouth, Large iliac wing, Cleft palate, Thin vermilion border, Abnormality...	ORPHA:2588
Desbuquois Dysplasia 2	Pectus excavatum, Cleft palate, Cutaneous syndactyly, Monkey wrench femoral neck, Pectus carinatu...	OMIM:615777
Brachyolmia Type 1, Toledo Type	Precocious costochondral ossification, Irregular vertebral endplates, Kyphoscoliosis, Squared-off...	OMIM:271630
Craniolenticulosutural Dysplasia	High palate, Wide mouth, Premature loss of teeth, Narrow chest, Thin vermilion border, High iliac...	ORPHA:50814
Thanatophoric Dysplasia, Type I	Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ...	OMIM:187600
Meier-Gorlin Syndrome 3	Narrow chest, Coxa vara, Narrow mouth, Talipes equinovarus, Microretrognathia, Tracheomalacia, Sh...	OMIM:613803
Osteogenesis Imperfecta, Type Xvi	Narrow chest, Recurrent fractures, Tooth agenesis, Microretrognathia, Bruising susceptibility, Mu...	OMIM:616229
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o...	OMIM:607078
Tibial Hemimelia	Radial club hand, Hemivertebrae, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallu...	ORPHA:93322
Meier-Gorlin Syndrome 5	Micrognathia, Prominent metopic ridge, Long philtrum, Irregular femoral epiphysis, Hypoplasia of ...	OMIM:613805
Saethre-Chotzen Syndrome	Sleep apnea, Clinodactyly of the 5th finger, Narrow palate, Cleft palate, Open bite, Proximal rad...	ORPHA:794
Osteogenesis Imperfecta, Type Xxii	Recurrent fractures, Dentinogenesis imperfecta, Reduced bone mineral density, Wormian bones, Slen...	OMIM:619795
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Coxa vara, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound of bone in central and posterior por...	OMIM:313400
Thrombocytopenia-Absent Radius Syndrome	Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat...	OMIM:274000
Multiple Osteochondromas	Abnormality of femur morphology, Hemothorax, Scapular exostoses, Abnormal hand morphology, Abnorm...	ORPHA:321
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	High palate, Flexion contracture, Arachnodactyly, Thin vermilion border, Long philtrum, Pectus ca...	ORPHA:481152
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Pseudoachondroplasia	Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg...	ORPHA:750
Kagami-Ogata Syndrome	Flexion contracture, Thin ribs, Retrognathia, Micrognathia, Long clavicles, Long philtrum, Long f...	OMIM:608149
Arthrogryposis, Distal, Type 3	High palate, Pectus excavatum, Cleft palate, Down-sloping shoulders, Congenital hip dislocation, ...	OMIM:114300
Orofaciodigital Syndrome Ix	Short tibia, Camptodactyly, Recurrent aspiration pneumonia, Hand polydactyly, Toe syndactyly	OMIM:258865
Oncogenic Osteomalacia	Abnormality of femur morphology, Tibial bowing, Fibrous dysplasia of the bones, Pathologic fractu...	ORPHA:352540
Hereditary Sensory And Autonomic Neuropathy Type 2	Reduced bone mineral density, Abnormal hip bone morphology, Foot acroosteolysis, Abnormality of t...	ORPHA:970
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Coxa vara, Metaphyseal dysplasia, Metaphyseal irregularity, Flexion contracture, Abnormally ossif...	OMIM:613330
Autosomal Recessive Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Stenosis of the medullary cavity of the long bones, T...	ORPHA:93324
Schinzel-Giedion Midface Retraction Syndrome	Short distal phalanx of finger, Tibial bowing, Sclerosis of skull base, Short sternum, Talipes eq...	OMIM:269150
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Narrow chest, Lateral clavicle hook, Short ribs, Preaxial hand polydactyly, Platyspondyly, Brachy...	OMIM:263520
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl...	OMIM:184250
Nablus Mask-Like Facial Syndrome	High palate, Narrow mouth, Joint contracture of the hand, Craniosynostosis, Retrognathia, Abnorma...	OMIM:608156
Robin Sequence-Oligodactyly Syndrome	Clinodactyly of the 5th finger, Abnormal morphology of ulna, Cleft palate, Hand oligodactyly, Glo...	ORPHA:3104
Intellectual Developmental Disorder, X-Linked, Syndromic 14	High palate, Narrow chest, Pectus excavatum, Pectus carinatum, Long foot, Long palm, Hypoplasia o...	OMIM:300676
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	High palate, Pectus excavatum, Flexion contracture, Arachnodactyly, Hyperextensibility of the fin...	OMIM:309520
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Short neck,...	OMIM:251450
Spondylometaphyseal Dysplasia, X-Linked	Kyphosis, Sclerosis of skull base, Hip contracture, Hyperextensibility of the finger joints, Plat...	OMIM:313420
Cleft Velum	Aspiration pneumonia, Velopharyngeal insufficiency, Hypoplasia of the maxilla, Cleft soft palate	ORPHA:99772
Rare Circulatory System Disease	Abnormality of finger, Abnormal metatarsal morphology, Cyanosis, Decreased finger mobility, Perio...	ORPHA:98028
Neuralgic Amyotrophy	Sprengel anomaly, Narrow mouth, Cleft palate, Respiratory insufficiency, Scapular winging, Acrocy...	ORPHA:2901
Spondylometaphyseal Dysplasia, A4 Type	Coxa vara, Platyspondyly, Micromelia, Short palm, Flared, irregular rib ends, Limitation of joint...	ORPHA:168555
Zimmermann-Laband Syndrome 3	Short distal phalanx of finger, High palate, Long hallux, Gingival overgrowth, Flexion contractur...	OMIM:618658
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Tibial bowing, Abnormal clavicle morphology, Femoral bowing, Fibular bowing, Aplasia/Hypoplasia o...	ORPHA:85165
Florid Cemento-Osseous Dysplasia	Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho...	ORPHA:83451
Familial Median Cleft Of The Upper And Lower Lips	Cleft upper lip, Diastema, Fusion of gums, Irregular dentition, Abnormality of the maxilla, Media...	ORPHA:401942
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Brachydactyly, Kyphosis, Delayed ossification of carpal bones, Pectus carinatum	OMIM:618392
Femoral-Facial Syndrome	Sprengel anomaly, Rib fusion, Coxa vara, Vertebral segmentation defect, Talipes equinovarus, Apla...	ORPHA:1988
Subaortic Stenosis--Short Stature Syndrome	Short toe, Narrow mouth, Pectus excavatum, Malar flattening, Small hand, Barrel-shaped chest, Bro...	OMIM:271960
Autosomal Dominant Spondylocostal Dysostosis	Vertebral segmentation defect, Short neck, Posterior rib fusion, Scoliosis, Spina bifida occulta,...	ORPHA:1797
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism	Hypoplasia of the maxilla, Craniosynostosis	OMIM:608432
Spondylometaphyseal Dysplasia, Kozlowski Type	Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platyspondyly, Short n...	OMIM:184252
Spondylometaphyseal Dysplasia, Algerian Type	Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord...	OMIM:184253
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Toe clinodactyly, Dentinogenesis imperfecta, Wormian bones, Upper limb undergrowth, Pathologic fr...	ORPHA:166277
Dysosteosclerosis	High palate, Short sternum, Osteopenia, Delayed eruption of teeth, Sclerotic scapulae, Broad ribs...	OMIM:224300
Mucopolysaccharidosis, Type Iva	Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beaking of lumbar ...	OMIM:253000
Ruvalcaba Syndrome	Narrow chest, Kyphosis, Small hand, Micromelia, Short phalanx of finger, Scoliosis, Limited elbow...	OMIM:180870
Juberg-Hayward Syndrome	Abnormality of finger, Hypoplasia of the radius, Scoliosis, Radioulnar synostosis, Abnormal rib m...	ORPHA:2319
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Partial duplication of the distal phalanx of the hallux, Bifid uvula, Broad hallux, Abnormal thum...	ORPHA:2669
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Bilateral talipes equinovarus, Retrognathia, Finger clinodactyly, Osteoporosis, Patellar subluxat...	ORPHA:2958
Lowry-Maclean Syndrome	Widely patent coronal suture, High, narrow palate, Cleft palate, Craniosynostosis, Retrognathia, ...	ORPHA:2409
Bruck Syndrome 1	Kyphosis, Coxa vara, Hip contracture, Talipes equinovarus, Platyspondyly, Scoliosis, Osteoporosis...	OMIM:259450
Acrodysostosis 1 With Or Without Hormone Resistance	Dislocated radial head, Long hallux, Cone-shaped epiphyses of the phalanges of the hand, Dental m...	OMIM:101800
Spondyloepimetaphyseal Dysplasia With Hypotrichosis	Delayed epiphyseal ossification, Proximal humeral metaphyseal irregularity, Coxa vara, Decreased ...	OMIM:183849
Meier-Gorlin Syndrome 4	Narrow mouth, Genu recurvatum, Micrognathia, Slender long bone, Patellar aplasia, Hypoplasia of t...	OMIM:613804
Autosomal Dominant Brachyolmia	Kyphoscoliosis, Increased vertebral height, Platyspondyly, Short thorax, Abnormal metaphysis morp...	ORPHA:93304
Stickler Syndrome, Type Ii	High, narrow palate, Cleft palate, Malar flattening, Arachnodactyly, Micrognathia, Bifid uvula, L...	OMIM:604841
Alagille Syndrome	Short distal phalanx of finger, Vertebral segmentation defect, Peripheral pulmonary artery stenos...	ORPHA:52
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Narrow chest, Metaphyseal cupping, Severe limb shortening, Thin ribs, Short ribs, Disc-like verte...	OMIM:151210
Bethlem Myopathy 2	Kyphosis, Flexion contracture, Scoliosis, Hip dislocation, Scapular winging, Distal joint laxity	OMIM:616471
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Kyphosis, Hip contracture, Pectus excavatum, Talipes equinovarus, Pes cavus, Hyporeflexia of lowe...	OMIM:615290
Lethal Congenital Contracture Syndrome 1	Widening of cervical spinal canal, Micrognathia, Neonatal death, Abnormal thorax morphology, Pulm...	OMIM:253310
Schinzel-Giedion Syndrome	High palate, Wide mouth, Respiratory distress, Abnormal clavicle morphology, Short 1st metacarpal...	ORPHA:798
Neuronopathy, Distal Hereditary Motor, Type Viii	Kyphosis, Hip contracture, Talipes equinovarus, Scoliosis, Hyperlordosis, Pes planus, Proximal lo...	OMIM:600175
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet	Micrognathia, Broad phalanx, Broad metatarsal, Prominent metopic ridge	OMIM:275595
Osteopathia Striata-Cranial Sclerosis Syndrome	Large iliac wing, High, narrow palate, Cleft palate, Increased bone mineral density, Osteopetrosi...	ORPHA:2780
Spondyloepiphyseal Dysplasia, Stanescu Type	Beaking of vertebral bodies, Kyphoscoliosis, Joint stiffness, Hypoplastic ilia, Platyspondyly, St...	OMIM:616583
Endove Syndrome, Limb-Only Type	Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy...	OMIM:619217
Apert Syndrome	Ectopic anus, Narrow palate, Cleft palate, Esophageal atresia, Respiratory insufficiency, Microme...	ORPHA:87
Fibrochondrogenesis	Narrow chest, Wide anterior fontanel, Narrow mouth, Cleft palate, Short ribs, Camptodactyly of fi...	ORPHA:2021
Craniodiaphyseal Dysplasia, Autosomal Dominant	Thickened ribs, Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteosclerosis, Mandibular...	OMIM:122860
Pseudohermaphroditism, Female, With Skeletal Anomalies	Ulnar radial head dislocation, Hypoplasia of the maxilla, Short mandibular condyles	OMIM:264270
Spastic Paraplegia 16, X-Linked	Short distal phalanx of finger, Hypoplasia of the maxilla	OMIM:300266
Osteogenesis Imperfecta, Type V	Recurrent fractures, Anterior radial head dislocation, Dentinogenesis imperfecta, Limited pronati...	OMIM:610967
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia	OMIM:188740
Rapp-Hodgkin Syndrome	Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Syndactyly...	OMIM:129400
Brachytelephalangic Chondrodysplasia Punctata	Short distal phalanx of finger, Calcaneal epiphyseal stippling, Asthma, Abnormal ossification inv...	ORPHA:79345
Osteomesopyknosis	Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler...	ORPHA:2777
Craniosynostosis, Herrmann-Opitz Type	Craniosynostosis, Micrognathia, Micromelia, Brachydactyly, Abnormal rib morphology, Split hand, A...	ORPHA:2145
Gorlin-Chaudhry-Moss Syndrome	Short distal phalanx of finger, Coronal craniosynostosis, Abnormality of the dentition, Oligodont...	ORPHA:2095
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Decreased fibular diameter, Cleft palate, Adducted thumb, Short femur, Osteopenia, Flared metaphy...	OMIM:616897
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Micrognathia, Clinodactyly	ORPHA:357175
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Barrel-shaped chest, Short neck, Platyspondyly, Upper limb undergr...	ORPHA:94068
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Vertebral segmentation defect, Anomalous pulmonary venous return,...	ORPHA:1120
Marshall Syndrome	High palate, Thick upper lip vermilion, Cleft palate, Malar flattening, Abnormality of the dentit...	ORPHA:560
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Pectus excavatum, Ankle clonus, Osteopenia, Scoliosis, Osteoporosis, Hypoplasia of the ulna	OMIM:615398
Mucopolysaccharidosis, Type Ivb	Pointed proximal second through fifth metacarpals, Kyphosis, Prominent sternum, Constricted iliac...	OMIM:253010
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Enlarged joints, Bowing of the legs, Pectus excavatum, Limited elbow extension, Limb undergrowth,...	ORPHA:156728
Thoracomelic Dysplasia	Narrow chest, Short ribs, Short neck, Bell-shaped thorax, Abnormality of fibula morphology, Limb ...	ORPHA:1803
Achondrogenesis, Type Ii	Cleft palate, Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Absent vertebral ...	OMIM:200610
Dysspondyloenchondromatosis	Vertebral segmentation defect, Kyphoscoliosis, Generalized joint laxity, Osteoarthritis, Platyspo...	ORPHA:85198
Omodysplasia 1	Limited knee flexion/extension, Increased fibular diameter, Short tibia, Micrognathia, Short hume...	OMIM:258315
Acrofacial Dysostosis, Rodríguez Type	Sprengel anomaly, Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Microretrognathia, Hand ol...	ORPHA:1788
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the hand or of fingers of the hand, Ulnar deviation of the hand, Hypoplasia of...	OMIM:122880
Cleidocranial Dysplasia 1	High palate, Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Cleft pala...	OMIM:119600
Kuskokwim Syndrome	Joint stiffness, Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Scoliosis, Abno...	ORPHA:1149
Baller-Gerold Syndrome	High palate, Cleft palate, Hypoplasia of the radius, Hypoplasia of the ulna, Sagittal craniosynos...	OMIM:218600
Microcephaly-Capillary Malformation Syndrome	Short distal phalanx of finger, Cleft palate, Brachydactyly, Hypoplasia of the maxilla, Clinodactyly	OMIM:614261
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Micromelia, Spontaneous neonatal pneumothorax, Delayed closure of the anterior fontan...	OMIM:225410
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies	Cleft upper lip, Radial bowing, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Abnormal th...	OMIM:601027
Atelosteogenesis Type I	Narrow chest, Talipes equinovarus, Short long bone, Short femur, Abnormal ossification involving ...	ORPHA:1190
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness	Broad phalanx, Genu valgum, Irregular iliac crest, Short long bone, Metaphyseal irregularity, Sho...	OMIM:250420
Temple Syndrome	High palate, Cleft palate, Flexion contracture, Small hand, Micrognathia, Short philtrum, Bifid u...	OMIM:616222
Cardiocranial Syndrome, Pfeiffer Type	Temporomandibular joint ankylosis, Episodic tachypnea, High, narrow palate, Slender finger, Micro...	ORPHA:2872
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition	Metaphyseal irregularity, Widely-spaced incisors, Slender finger, Flared metaphysis, Oligodontia,...	OMIM:601668
Thanatophoric Dysplasia	Narrow chest, Kyphosis, Joint stiffness, Platyspondyly, Micromelia, Brachydactyly, Abnormal ilium...	ORPHA:2655
Spondylometaphyseal Dysplasia, Pagnamenta Type	Femoral bowing, Wormian bones, Thin bony cortex, Thoracic kyphosis, Broad thumb, Rhizomelia, Pes ...	OMIM:619638
Anauxetic Dysplasia 3	Narrow chest, Wide anterior fontanel, Metaphyseal cupping, Pectus excavatum, Retrognathia, Femora...	OMIM:618853
Holzgreve Syndrome	Joint stiffness, Abnormal morphology of ulna, Abnormally ossified vertebrae, Abnormal rib morphol...	ORPHA:2167
Mucolipidosis Iii Gamma	Kyphosis, Joint stiffness, Flat capital femoral epiphysis, Abnormal rib cage morphology, Flared i...	OMIM:252605
Microcephaly, Short Stature, And Limb Abnormalities	Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ...	OMIM:617604
Orofaciodigital Syndrome Iv	Pectus excavatum, Postaxial polydactyly, Short tibia, Micrognathia, Brachydactyly, Short finger, ...	OMIM:258860
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Micrognathia, Clinodactyly	OMIM:615162
Spondyloepimetaphyseal Dysplasia With Joint Laxity	Platyspondyly, Pectus carinatum, Ulnar deviation of finger, Abnormal epiphysis morphology, Abnorm...	ORPHA:93359
Osteogenesis Imperfecta, Type Xii	High palate, Narrow mouth, Malar flattening, Micrognathia, Osteoporosis, Delayed eruption of teet...	OMIM:613849
Osteogenesis Imperfecta, Type Vii	Narrow chest, Coxa vara, Wide anterior fontanel, Bowing of the legs, Recurrent fractures, Pectus ...	OMIM:610682
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, High palate, Wide anterior fontanel, Abnormality of the tongue, C...	ORPHA:3098
Nephrosis With Deafness And Urinary Tract And Digital Malformations	Short distal phalanx of the thumb, Partial duplication of the distal phalanx of the hallux, Bifid...	OMIM:256200
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Anodontia, Increased bone mineral density, Cleft palate, Abnormal...	ORPHA:90650
Antley-Bixler Syndrome	Narrow chest, Joint stiffness, Narrow mouth, Recurrent fractures, Elbow ankylosis, Cleft palate, ...	ORPHA:83
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations	Fragmented epiphyses, Slender finger, Platyspondyly, Genu valgum, Abnormality of the curvature of...	ORPHA:93360
Slc35A2-Cdg	Talipes equinovarus, Craniosynostosis, Short tibia, Aplasia/hypoplasia involving bones of the ext...	ORPHA:356961
Weill-Marchesani Syndrome 1	Broad metacarpals, Joint stiffness, Narrow palate, Tooth malposition, Broad phalanges of the hand...	OMIM:277600
Postaxial Acrofacial Dysostosis	Hypoplasia of the radius, Micrognathia, Camptodactyly of finger, Hypoplasia of the ulna, Finger s...	ORPHA:246
Osteogenesis Imperfecta, Type Xviii	Recurrent fractures, Thin ribs, Femoral bowing, Abnormality of the dentition, Micrognathia, Wormi...	OMIM:617952
Otopalatodigital Syndrome, Type I	Pectus excavatum, Cleft palate, Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure o...	OMIM:311300
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Mosaic Trisomy 14	High palate, Wide mouth, Ectopic anus, Narrow chest, Cleft palate, Micrognathia, Camptodactyly of...	ORPHA:1703
Brachydactyly Type C	Clinodactyly of the 5th finger, Stippling of the epiphysis of the distal phalanx of the thumb, Ps...	ORPHA:93384
Duane-Radial Ray Syndrome	Absent thumb, Hypoplasia of the radius, Preaxial polydactyly, Pectoralis hypoplasia, Short humeru...	OMIM:607323
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Microretrognathia, Cutan...	OMIM:236500
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck, Recurre...	OMIM:608681
Postaxial Acrofacial Dysostosis	Pectus excavatum, Hypoplasia of the radius, Supernumerary vertebrae, Micrognathia, Congenital hip...	OMIM:263750
Achondroplasia	Rhizomelia, Thoracic hypoplasia, Short long bone, Narrow greater sciatic notch, Hip joint hypermo...	ORPHA:15
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Talipes equinovarus, Small hand, Scoliosis, Short foot, Hip dislocation	OMIM:300434
Distal Xq28 Microduplication Syndrome	High palate, Asthma, Short lingual frenulum, Hypoplasia of the maxilla, Clinodactyly, Metatarsus ...	ORPHA:293939
Mucopolysaccharidosis Type 4	Wide mouth, Joint dislocation, Reduced bone mineral density, Abnormality of the dentition, Grayis...	ORPHA:582
Eiken Syndrome	Short philtrum, Broad ribs, Multiple unerupted teeth, Thick lower lip vermilion, Long hallux, Eru...	OMIM:600002
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short toe, Narrow mouth, Cleft palate, Coronal craniosynostosis, Micrognathia, Brachydactyly, Gen...	OMIM:614078
Mesomelia-Synostoses Syndrome	Abnormality of femur morphology, Abnormality of the humerus, Micromelia, Abnormality of the ankle...	ORPHA:2496
Spondyloepimetaphyseal Dysplasia, Shohat Type	Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Lumbar hyperlordosis, Narro...	OMIM:602557
Polydactyly, Postaxial, With Dental And Vertebral Anomalies	Narrow chest, Dens in dente, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Hypodontia, Pect...	OMIM:263540
Mesomelic Dysplasia, Nievergelt Type	Clinodactyly of the 5th finger, Abnormal morphology of ulna, Camptodactyly of finger, Micromelia,...	ORPHA:2633
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Cleft palate, Micrognathia, Hypoplastic distal segments of scapulae, Abnormal r...	OMIM:602196
Mucopolysaccharidosis, Type Ix	Periarticular soft-tissue mass, Finger joint hypermobility, Popliteal synovial cyst, Chondrocalci...	OMIM:601492
Mental Retardation, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Brachymesomelia-Renal Syndrome	Hypoplasia of the radius, Micrognathia, Cutis marmorata, Single transverse palmar crease, Mesomel...	OMIM:113470
Renal Dysplasia-Limb Defects Syndrome	Aplasia of the ulna, Short sternum, Talipes equinovarus, Thin ribs, Short ribs, Hypoplasia of the...	OMIM:266910
Osteogenesis Imperfecta, Type Xiii	Dislocated radial head, Increased bone mineral density, Arachnodactyly, Thin vermilion border, Lo...	OMIM:614856
Tetrasomy 5P	High palate, Overlapping toe, Wide anterior fontanel, Clinodactyly of the 5th finger, Talipes equ...	ORPHA:3309
Cleft Lip/Palate	Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala...	ORPHA:199306
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Pectus excavatum, Scoliosis, Tapered finger, Pectus carinatum, Large hands	ORPHA:276630
Stuve-Wiedemann Syndrome 2	Respiratory distress, Short long bone, Death in adolescence, Neonatal death, Camptodactyly, Bowin...	OMIM:619751
Langer Mesomelic Dysplasia	High palate, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short fem...	ORPHA:2632
Cerebrofacioarticular Syndrome	Narrow mouth, Talipes equinovarus, Tracheomalacia, Osteopenia, Micrognathia, Syndactyly, Camptoda...	ORPHA:314679
Dislocation Of The Hip-Dysmorphism Syndrome	Narrow mouth, Malar flattening, Prominence of the premaxilla, Abnormality of fontanelles, Congeni...	ORPHA:2412
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Kyphosis, Talipes equinovarus, Flexion contracture, Micrognathia, Overlapping fingers, Congenital...	OMIM:618291
Spondylometaphyseal Dysplasia, Sedaghatian Type	Cone-shaped epiphyses of the phalanges of the hand, Short neck, 11 pairs of ribs, Platyspondyly, ...	OMIM:250220
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Antecubital pterygium, Metaphyseal wide...	ORPHA:2502
Craniosynostosis 2	Supernumerary tooth, Craniosynostosis, Brachydactyly, Triphalangeal thumb, Bicoronal synostosis, ...	OMIM:604757
Laurin-Sandrow Syndrome	Absent radius, Syndactyly, Triphalangeal thumb, Broad foot, Patellar aplasia, Short foot, Hand po...	OMIM:135750
Brachydactyly-Preaxial Hallux Varus Syndrome	Radial club hand, Micrognathia, Brachydactyly, Broad thumb, Abnormal palate morphology, Short met...	ORPHA:1278
Weill-Marchesani Syndrome 2	Broad metacarpals, High palate, Joint stiffness, Narrow palate, Tooth malposition, Broad phalange...	OMIM:608328
Frontometaphyseal Dysplasia 1	High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Scapular w...	OMIM:305620
X-Linked Hypophosphatemia	Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, Bo...	ORPHA:89936
Phaver Syndrome	Joint stiffness, Butterfly vertebrae, Broad hallux phalanx, Camptodactyly of finger, Abnormal for...	ORPHA:2876
Schneckenbecken Dysplasia	Narrow chest, Metaphyseal irregularity, Advanced ossification of carpal bones, Lateral clavicle h...	OMIM:269250
Short Stature-Wormian Bones-Dextrocardia Syndrome	High palate, Anal atresia, Tooth agenesis, Micrognathia, Camptodactyly of finger, Brachydactyly, ...	ORPHA:2863
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Hypoplasia of the maxilla, Cleft u...	OMIM:213980
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Syndactyly, Amelia, Pulmonary hypoplasia, Decreased skull ossific...	OMIM:601163
Aphalangy With Hemivertebrae	Aplasia of the phalanges of the toes, Hemivertebrae, Pulmonary hypoplasia, Aphalangy of hands and...	OMIM:207620
Progressive Pseudorheumatoid Dysplasia	Coxa vara, Kyphoscoliosis, Joint stiffness, Enlarged metacarpophalangeal joints, Joint contractur...	OMIM:208230
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Gingival overgrowth, Retrognathia, Micrognathia, Delayed cranial suture clo...	ORPHA:1832
Fetal Akinesia Deformation Sequence 4	Kyphosis, Flexion contracture, Micrognathia, Short neck, Camptodactyly, Arthrogryposis multiplex ...	OMIM:618393
Spondylospinal Thoracic Dysostosis	Micrognathia, Pulmonary hypoplasia, Short thorax, Arthrogryposis multiplex congenita	OMIM:601809
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short distal phalanx of finger, Short toe, Joint dislocation, Hypodontia, High, narrow palate, Gl...	ORPHA:3201
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Pes cavus, Scoliosis	OMIM:617087
Familial Scheuermann Disease	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:3135
Crouzon Syndrome	Respiratory insufficiency, Multiple suture craniosynostosis, Narrow palate, Hypoplasia of the max...	ORPHA:207
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Thin ...	OMIM:300863
Branchioskeletogenital Syndrome	Premature loss of teeth, Pectus excavatum, Craniosynostosis, Thin vermilion border, Abnormality o...	ORPHA:1299
Fibrous Dysplasia Of Bone	Abnormality of femur morphology, Abnormal clavicle morphology, Abnormality of the humerus, Thin b...	ORPHA:249
Pycnodysostosis	Narrow palate, Persistence of primary teeth, Hypodontia, Increased bone mineral density, Microgna...	OMIM:265800
Thanatophoric Dysplasia, Type Ii	Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ...	OMIM:187601
Distal Monosomy 17Q	Narrow mouth, Abnormal hip bone morphology, Small hand, Respiratory insufficiency, Aplasia/Hypopl...	ORPHA:1597
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	High palate, Flushing, Pectus excavatum, Long clavicles, Osteopenia, Erythema, Osteoporosis, Worm...	OMIM:259100
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Cleft palate, Malar flattening, Micrognathia, Hypoplasia of the maxilla,...	ORPHA:79113
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Short hallux, Sandal gap, Cleft soft palate	OMIM:216300
Weyers Ulnar Ray/Oligodactyly Syndrome	Aplasia/Hypoplasia of the ulna, Hand oligodactyly, Absent thumb, Hypoplasia of the radius, Microg...	OMIM:602418
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Narrow chest, Short distal phalanx of finger, Abnormal bone ossification, Thin ribs, Triangular s...	ORPHA:73230
Osteofibrous Dysplasia, Susceptibility To	Pectus excavatum, Fibular hypoplasia, Pseudoarthrosis, Pathologic fracture	OMIM:607278
Acro-Renal-Ocular Syndrome	Vertebral segmentation defect, Short distal phalanx of the thumb, Finger syndactyly, Radial club ...	ORPHA:959
Robin Sequence With Cleft Mandible And Limb Anomalies	Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M...	OMIM:268305
Myopathic Ehlers-Danlos Syndrome	Multiple joint contractures, Pectus excavatum, Tapered finger, Foot joint contracture, Talipes eq...	ORPHA:536516
Chromosome 16Q22 Deletion Syndrome	High palate, Narrow chest, Wide anterior fontanel, Micrognathia, Prominent metopic ridge, Wormian...	OMIM:614541
Bruck Syndrome 2	Talipes equinovarus, Flexion contracture, Femoral bowing, Osteopenia, Wormian bones, Pectus carin...	OMIM:609220
Renpenning Syndrome	Sprengel anomaly, Anal atresia, Narrow mouth, Clinodactyly of the 5th finger, Joint stiffness, Hi...	ORPHA:3242
Cutis Laxa, Autosomal Recessive, Type Iib	High palate, Pectus excavatum, Malar flattening, Bruising susceptibility, Excessive wrinkled skin...	OMIM:612940
Acrorenal Syndrome	Abnormal morphology of ulna, Cleft palate, Micrognathia, Abnormality of tibia morphology, Aplasia...	ORPHA:971
Thoracolaryngopelvic Dysplasia	Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Metaphyseal widenin...	OMIM:187760
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism	Anodontia, Short toe, Short phalanx of finger, Hypoplasia of the maxilla, Short metatarsal, Short...

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