Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
interferon induced transmembrane protein 5
Synonyms:
fragilis4,  Hrmp1,  1110003J06Rik,  Bril

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Ifitm5 mutations

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

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

The table below shows human diseases associated to Ifitm5 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Osteogenesis Imperfecta, Type V
Osteopenia, Abnormal pelvic girdle bone morphology, Dentinogenesis imperfecta, Anterior radial he... OMIM:610967

The table below shows human diseases predicted to be associated to Ifitm5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts, Fa... OMIM:600121
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
Hyperostosis Corticalis Generalisata
Abnormal clavicle morphology, Cranial hyperostosis, Abnormal cortical bone morphology, Generalize... ORPHA:3416
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bulging of the costochondral junctio... OMIM:600081
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn... ORPHA:1802
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... ORPHA:2790
Osteosclerotic Metaphyseal Dysplasia
Failure to thrive, Dense metaphyseal bands, Elevated circulating alkaline phosphatase concentrati... OMIM:615198
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Structural fo... ORPHA:564003
Multiple Epiphyseal Dysplasia Type 4
Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Abnormal hand morpho... ORPHA:93307
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Cleidocranial Dysplasia 2
Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Osteopenia, Hypoplasia of the max... OMIM:620099
Pyle Disease
Mandibular prognathia, Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persis... OMIM:265900
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Micrognathia, Splenomegaly, Lower limb undergrowth, Tibial bowing, Bowing of the l... ORPHA:3035
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... OMIM:602111
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Delay... OMIM:264700
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bulging of the costochondral junctio... OMIM:241530
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Carious teeth, Rickets, Bulging e... OMIM:277440
Melnick-Needles Syndrome
Short distal phalanx of finger, Hip dislocation, Craniofacial hyperostosis, Narrow chest, Short t... ORPHA:2484
Mesomelic Limb Shortening And Bowing
Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Micrognathia,... OMIM:249710
Langer Mesomelic Dysplasia
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... OMIM:249700
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Severe limb shortening, Flat acetabular roof, Hypoplastic ischia, Hypop... OMIM:151210
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rachitic rosary, Rickets, O... OMIM:307800
Atelosteogenesis, Type Iii
Tombstone-shaped proximal phalanges, Rhizomelia, Hypoplasia of the maxilla, Radial bowing, Sandal... OMIM:108721
Ophthalmomandibulomelic Dysplasia
Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Tempor... OMIM:164900
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe... OMIM:200600
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Limited elb... ORPHA:79106
Acromesomelic Dysplasia 2C
Acromesomelia, Shortening of all middle phalanges of the fingers, Short tibia, Short thumb, Radia... OMIM:201250
Sclerosteosis
Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti... ORPHA:3152
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Thoracic hypoplasia, Micrognathia, Ulnar bowing,... OMIM:617866
Gnathodiaphyseal Dysplasia
Broad jaw, Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of lo... ORPHA:53697
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Structural foot deformity, Finger syndactyly, Short... ORPHA:93323
Postaxial Oligodactyly, Tetramelic
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... OMIM:176240
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... ORPHA:93356
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Ulnar Hypoplasia
Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio... OMIM:191440
Leri-Weill Dyschondrosteosis
Mesomelia, Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing... OMIM:127300
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Mandibular prognathia, Craniofacial osteosclerosis, Cortical sclerosis... OMIM:122860
Osteogenesis Imperfecta, Type X
Thin ribs, Genu valgum, Fibular bowing, Micrognathia, Death in childhood, Bowing of the long bone... OMIM:613848
Bent Bone Dysplasia Syndrome 1
Coronal craniosynostosis, Natal tooth, Hepatosplenomegaly, Micrognathia, Bell-shaped thorax, Mala... OMIM:614592
Ritscher-Schinzel Syndrome 3
Short 1st metacarpal, Short first metatarsal, Epiphyseal stippling, Micrognathia, Ulnar bowing, P... OMIM:619135
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Osseous Heteroplasia, Progressive
Ankylosis, Limb undergrowth, Ectopic ossification in muscle tissue OMIM:166350
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Micrognat... ORPHA:2097
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
Metatropic Dysplasia
Narrow chest, Coarse metaphyseal trabecularization, Micromelia, Abnormal enchondral ossification,... ORPHA:2635
Osteogenesis Imperfecta, Type Viii
Thin ribs, Osteopenia, Dentinogenesis imperfecta, Slender long bone, Radial bowing, Femoral bowin... OMIM:610915
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... OMIM:166740
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... OMIM:223800
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Elevated circulating alkaline ... ORPHA:289157
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Genu valgum, Micrognathia, Decreased skull ossification, Abn... ORPHA:1452
Osteogenesis Imperfecta, Type Ii
Thin ribs, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long bones, Bell-sh... OMIM:166210
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob... OMIM:114000
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared iliac bones, Delayed erup... OMIM:112350
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Osteogenesis Imperfecta, Type Iii
Thin ribs, Dentinogenesis imperfecta, Slender long bone, Micrognathia, Recurrent fractures, Bowin... OMIM:259420
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ... ORPHA:1879
Kyphomelic Dysplasia
Limitation of joint mobility, Radial bowing, Micromelia, Flared metaphysis, Thoracic hypoplasia, ... OMIM:211350
Fgfr2-Related Bent Bone Dysplasia
Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Natal tooth, Extramedulla... ORPHA:313855
Shox-Related Short Stature
Genu valgum, Micrognathia, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, ... ORPHA:314795
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Long clavicles, Con... OMIM:210720
Metaphyseal Dysplasia, Spahr Type
Metaphyseal sclerosis, Genu valgum, Bowing of the legs, Metaphyseal chondrodysplasia, Metaphyseal... OMIM:250400
Metaphyseal Anadysplasia
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho... ORPHA:1040
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax, Neonatal dea... OMIM:108720
Kniest Dysplasia
Delayed epiphyseal ossification, Rhizomelia, Dumbbell-shaped femur, Limitation of joint mobility,... OMIM:156550
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Mi... OMIM:600920
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... OMIM:300106
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri... OMIM:300554
Bent Bone Dysplasia Syndrome 2
Thin ribs, Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic ili... OMIM:620076
Achondroplasia
Rhizomelia, Radial bowing, Flared metaphysis, Thoracic hypoplasia, Femoral bowing, Trident hand, ... OMIM:100800
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density, Elevated ci... OMIM:239100
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Osteopenia, Retrognathia, Recurrent shoulder dislocation, Down-sloping shoulders, Short clavicles... OMIM:212112
Paget Disease Of Bone 4
Osteolysis, Elevated circulating alkaline phosphatase concentration OMIM:606263
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Anterior rib cupping, Genu varum, Femoral bowing, Short long bon... ORPHA:174
Hypophosphatasia, Childhood
Rachitic rosary, Carious teeth, Low alkaline phosphatase, Craniosynostosis, Bowing of the legs OMIM:241510
Familial Expansile Osteolysis
Pathologic fracture, Elevated circulating alkaline phosphatase concentration, Bowing of the long ... OMIM:174810
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Abnormal morphology ... ORPHA:3269
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Dumbbell-shaped femur, Sandal gap, Limitation of joint mobility, Flared fem... ORPHA:1427
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow chest, Narrow pelvis bone, Femoral ... OMIM:207410
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Broad toe, Broad phalanx, Short metac... OMIM:619636
Osteosarcoma
Increased circulating lactate dehydrogenase concentration, Abnormal femoral metaphysis morphology... ORPHA:668
Blount Disease, Adolescent
Genu varum, Bowing of the legs OMIM:259200
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m... ORPHA:970
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Limited pronation/supination of forearm, Radial bowing, Madelung deformity DECIPHER:58
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Dentinogenesis imperfecta, Limitation of joint mobility, Upper limb undergrowth... ORPHA:166277
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Splenomegaly, Limb undergrowth, Abnormal limb bone morphology,... ORPHA:2204
Osteogenesis Imperfecta, Type Xix
Osteopenia, Rhizomelia, Pectus carinatum, Dentinogenesis imperfecta, Bowing of the arm, Joint hyp... OMIM:301014
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foot morphology, Aplasia/hy... ORPHA:75508
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal... OMIM:156500
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Broad foot, Pes planus, Advanced ossification of carpal bones,... OMIM:615777
Upper Limb Mesomelic Dysplasia
Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna ORPHA:2497
Greenberg Dysplasia
Rhizomelia, Narrow chest, Micromelia, Abnormal pelvis bone ossification, Micrognathia, Decreased ... ORPHA:1426
Metaphyseal Chondrodysplasia, Spahr Type
Carious teeth, Abnormal epiphysis morphology, Reduced bone mineral density, Bowing of the long bo... ORPHA:2501
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Malar flattening, Short 4th ... OMIM:118651
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tu... ORPHA:85184
Lethal Recessive Chondrodysplasia
Narrow chest, Micromelia, Micrognathia, Flared elbow metaphyses, Generalized osteosclerosis, Limb... ORPHA:1423
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi... ORPHA:2878
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina... OMIM:605432
Boomerang Dysplasia
Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology... ORPHA:1263
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Upper li... ORPHA:93351
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Slender long bone, Abnormal hip bone morphology, Micrognathia, Abno... ORPHA:1486
Gorham-Stout Disease
Osteopenia, Abnormal facial skeleton morphology, Abnormality of the temporomandibular joint, Cort... ORPHA:73
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Lower limb asymmetry, Delayed eruption of ... ORPHA:289176
Tibial Torsion, Bilateral Medial
Bowing of the legs, Tibial torsion OMIM:188800
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Diaphyseal undertubulation, Abnormal rib morphology ORPHA:1513
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... OMIM:119600
Spondylometaphyseal Dysplasia, Type A4
Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis, Metaphyseal sc... OMIM:609052
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri... OMIM:300009
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone mineral density, Genu varum, Delay... OMIM:617974
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Talipes equino... OMIM:271640
Craniometadiaphyseal Dysplasia
Osteopenia, Wide anterior fontanel, Carious teeth, Natal tooth, Absent paranasal sinuses, Flared ... OMIM:269300
Kyphomelic Dysplasia
Narrow chest, Limitation of joint mobility, Micromelia, Short thorax, Joint stiffness, Micrognath... ORPHA:1801
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Metaphyseal cupping, Flared metaphysis, Elevated circulating alkaline phosphatase con... OMIM:619073
Rhyns Syndrome
Osteopenia, Radial bowing, Brachydactyly, Short long bone, Osteoporosis, Short femoral neck OMIM:602152
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta, Slender long bone, Bowing of the long bones, Pseudoarthrosis, Thin bon... OMIM:619795
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Metaphyseal dysplasia, Thoracic hypoplasia, Femoral bowing, Limited e... OMIM:618019
Marshall Syndrome
Hypoplastic ilia, Macrodontia of permanent maxillary central incisor, Radial bowing, Irregular fe... OMIM:154780
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Clinodactyly... ORPHA:3268
Ophthalmomandibulomelic Dysplasia
Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ... ORPHA:2741
Ck Syndrome
Retrognathia, Micrognathia, Abnormal cortical bone morphology, Malar flattening, Joint hypermobil... OMIM:300831
Van Maldergem Syndrome 1
Osteopenia, Narrow chest, Hypoplasia of the maxilla, Dental malocclusion, Clinodactyly, Tracheoma... OMIM:601390
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Campomelic Dysplasia
Small abnormally formed scapulae, Narrow chest, Tracheomalacia, 11 pairs of ribs, Femoral bowing,... ORPHA:140
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Micrognathia, Arachnodactyly, Talipes equinovarus, Radioulnar synostosis, Pes planus, Bowing of t... OMIM:130070
Pacman Dysplasia
Bowing of the long bones, Epiphyseal stippling OMIM:167220
Chondrodysplasia, Blomstrand Type
Narrow chest, Micromelia, Flared metaphysis, Stillbirth, Micrognathia, Malar flattening, Short ri... OMIM:215045
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Micrognathia, Abnormal morphology of ulna, Abnormal metacarpal morphology, Clinod... ORPHA:3104
Mueller-Weiss Syndrome
Tibiofibular diastasis, Equinovarus deformity, Tibial torsion, Abnormality of the os naviculare p... ORPHA:566943
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Brachydactyly, Type E1
Type E brachydactyly, Multiple impacted teeth, Short clavicles, Brachydactyly, Straight clavicles... OMIM:113300
Metaphyseal Dysplasia Without Hypotrichosis
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses... OMIM:250460
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Barrel-shaped chest, ... OMIM:143095
Enlarged Parietal Foramina
Short clavicles, Craniosynostosis, Broad thumb ORPHA:60015
Osteogenesis Imperfecta, Type Xii
Generalized osteoporosis, Pectus carinatum, Hypermobility of interphalangeal joints, Dentinogenes... OMIM:613849
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Toe syndactyly, Elbow flexion contracture, Death in childhood, Hip contracture, Eleva... OMIM:616809
Spondylometaphyseal Dysplasia, Pagnamenta Type
Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Pes planus, ... OMIM:619638
Marbach-Rustad Progeroid Syndrome
Eruption failure, Micrognathia, Delayed eruption of primary teeth, Short clavicles, Femur fractur... OMIM:619322
Oncogenic Osteomalacia
Abnormal foot morphology, Pathologic fracture, Abnormality of the tarsal bones, Abnormal femur mo... ORPHA:352540
Cranio-Osteoarthropathy
Clubbing of toes, Deviation of finger, Abnormal tibia morphology, Joint stiffness, Abnormal corti... ORPHA:1525
Stuve-Wiedemann Syndrome 1
Thin ribs, Carious teeth, Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of ... OMIM:601559
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis OMIM:156232
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Short clavicles, Short 4th metacarpal, Microretrognathia, Joint hypermobility OMIM:606220
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... OMIM:246570
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Arthralgia of the hip, Abnor... ORPHA:166002
Van Maldergem Syndrome 2
Osteopenia, Narrow chest, Cutaneous syndactyly of toes, Hypoplasia of the maxilla, Clinodactyly, ... OMIM:615546
Intermediate Osteopetrosis
Erlenmeyer flask deformity of the femurs, Dental malocclusion, Cortical sclerosis, Osteomyelitis,... ORPHA:210110
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Abnormal epiphysis morp... ORPHA:50945
Acromesomelic Dysplasia 1
Acromesomelia, Thoracolumbar kyphosis, Radial bowing, Short toe, Flared metaphysis, Long hallux, ... OMIM:602875
Mandibuloacral Dysplasia With Type B Lipodystrophy
Micrognathia, Death in early adulthood, Hypoplasia of teeth, Short clavicles, Acroosteolysis of d... OMIM:608612
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Dyschondrosteosis-Nephritis Syndrome
Aplasia/Hypoplasia of the radius, Micromelia, Radial bowing, Ulnar bowing, Madelung deformity ORPHA:1765
X-Linked Hypophosphatemia
Limitation of joint mobility, Genu valgum, Elevated circulating alkaline phosphatase concentratio... ORPHA:89936
Melnick-Needles Syndrome
Short distal phalanx of finger, Hypoplastic scapulae, Narrow chest, Delayed eruption of teeth, Fl... OMIM:309350
Xylt1-Cdg
Broad thumb, Clinodactyly, Flared metaphysis, Broad ribs, Joint hypermobility, Short clavicles, P... ORPHA:370930
W Syndrome
Radial bowing, Clinodactyly, Elbow dislocation, Pes cavus, Cubitus valgus, Pes planus, Hypoplasia... ORPHA:2804
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle morphology, Micrognath... ORPHA:93267
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Diaphyseal undertubulation, Metaphyseal dysplasia, Short pa... ORPHA:175
Congenital Insensitivity To Pain With Severe Intellectual Disability
Talipes equinovalgus, Osteomyelitis, Micrognathia, Tibial bowing, Congenital bilateral hip disloc... ORPHA:453510
Acrorenal Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Abnormal morphology of... ORPHA:971
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Absent thumb, Retrognathia, Elbow flexion contracture, Hypoplastic pelvis, ... OMIM:618022
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Osteogenesis Imperfecta, Type Xxi
Bowing of the arm, Bell-shaped thorax, Barrel-shaped chest, Joint hypermobility, Pes valgus, Pes ... OMIM:619131
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormal rib cage morphology, Abnormality of carpal bone ossification, Osteopenia, Hypoplasia of ... OMIM:608154
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Stillbirth, Aplasia of the d... OMIM:308050
Epiphyseal Chondrodysplasia, Miura Type
Epiphyseal dysplasia, Fifth finger distal phalanx clinodactyly, Osteopenia, Broad hallux, Long ha... OMIM:615923
Heart-Hand Syndrome Type 2
Asymmetry of the thorax, Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Micromel... ORPHA:1350
Caffey Disease
Cortical thickening of long bone diaphyses, Cortical irregularity, Periosteal thickening of long ... ORPHA:1310
Dislocation Of The Hip-Dysmorphism Syndrome
Congenital hip dislocation, Deviation of finger, Malar flattening, Prominence of the premaxilla, ... ORPHA:2412
Diastrophic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Abnormal rib morphology, Sh... ORPHA:628
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Osteolysis ORPHA:2776
Premature Aging Syndrome, Penttinen Type
Thin ribs, Short distal phalanx of finger, Hypoplasia of the maxilla, Slender long bone, Delayed ... OMIM:601812
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac... OMIM:184260
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Femoral bowing, Micrognathia, Joint hypermobility, Bowing of the long bones, Thin bony... OMIM:617952
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Bifid femur, Carious teeth, Elbow dislocation, Abnormal rib morphology, Failur... ORPHA:2769
Eiken Syndrome
Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Elevated circulating alka... OMIM:600002
Achondrogenesis Type 2
Hypoplastic ilia, Narrow chest, Micromelia, Absent vertebral body mineralization, Delayed pubic b... ORPHA:93296
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture ... ORPHA:93315
Geroderma Osteodysplasticum
Osteopenia, Hypoplasia of the maxilla, Femoral bowing, Increased susceptibility to fractures, Tib... OMIM:231070
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Flared metaphysis, Short 5th metacarpal, Short middle phalanx of the 2... OMIM:156510
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Radial bowing OMIM:617993
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Chondrodysplasia With Joint Dislocations, Gpapp Type
Coronal craniosynostosis, Capitate-hamate fusion, Short toe, Knee dislocation, Genu valgum, Limit... OMIM:614078
Fibrous Dysplasia Of Bone
Osteomalacia, Abnormal tibia morphology, Abnormality of the sphenoid sinus, Elevated circulating ... ORPHA:249
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Hemidystonia-Hemiatrophy Syndrome
Hemiatrophy, Rhizomelic leg shortening, Abnormal paranasal sinus morphology, Advanced pneumatizat... ORPHA:306741
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Femoral bowing, Fibular bowing, Tibial bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia o... ORPHA:85165
Pycnodysostosis
Aplastic clavicle, Carious teeth, Persistence of primary teeth, Micrognathia, Delayed eruption of... OMIM:265800
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Dental maloccl... OMIM:144750
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Rhizomelia, Metaphyseal cupping, Dental malocclusion, Flared metaphysis, Short finger, Joint stif... OMIM:608940
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Osteopenia, Elbow flexion contracture, Progressive clavicular acr... OMIM:248370
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Arthralgia of the hip, Limitation of joint mobility, Avascular n... ORPHA:93308
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... ORPHA:1570
Thoracomelic Dysplasia
Abnormal pelvic girdle bone morphology, Narrow chest, Elbow dislocation, Genu valgum, Bell-shaped... ORPHA:1803
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Elevated circulating alkaline phosphatase concentration, Increased spinal bone density ORPHA:329475
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl... OMIM:607078
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Aplasia/Hypoplasia of the f... ORPHA:2632
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Ectopic ossification i... OMIM:135100
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ba... OMIM:276820
Campomelic Dysplasia
Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv... OMIM:114290
Crane-Heise Syndrome
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... ORPHA:1512
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Stillbirth, Advanced tarsal ossification... OMIM:269250
Spondylodysplastic Ehlers-Danlos Syndrome
Subluxation of the small joints of the hand, Dysplasia of the femoral head, Micrognathia, Bowing ... ORPHA:536471
Cdags Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Malar flattening, Short ribs, Short clavic... OMIM:603116
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Abnormal sternum morphology, S... ORPHA:166016
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Carious teeth, Femoral bowing, Elevated circulating alkaline phosphatase concentratio... OMIM:126550
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Osteosclerosis of the ulna,... OMIM:602080
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Narrow chest, Coarse metaphyseal trabecularization, Death in childhood, Short ribs, Limb undergro... OMIM:618961
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ... ORPHA:2141
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Abnormal cementum morphology, Mandibular osteomyelitis, Dent... ORPHA:83451
Mandibuloacral Dysplasia
Contractures of the large joints, Micrognathia, Short clavicles, Acroosteolysis of distal phalang... ORPHA:2457
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Enlarged metaphyses, Lower-limb metaphyseal irregularity, Irregular femoral epiphysis, Upper-limb... OMIM:618728
Occipital Horn Syndrome
Pectus carinatum, Broad clavicles, Narrow chest, Broad ribs, Genu valgum, Limited elbow extension... OMIM:304150
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Retrognathia, Finger clinodactyly, Supernumerary ribs, Patellar subluxation, Bilateral talipes eq... ORPHA:2958
Achondrogenesis Type 1B
Narrow chest, Abnormal enchondral ossification, Micromelia, Short thorax, Micrognathia, Talipes e... ORPHA:93298
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Hypoplasia of the maxilla, Ankle swelling, Carpal osteolysis, Wrist swelling, Metacar... OMIM:166300
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Post... ORPHA:1106
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Phocomelia, Schinzel Type
Finger aplasia, Radial bowing, Ectrodactyly, Aplasia/Hypoplasia involving the pelvis, Abnormal ti... ORPHA:2879
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,... ORPHA:2639
Hypophosphatemic Rickets, Autosomal Recessive, 2
Carious teeth, Hypophosphatemic rickets, Genu valgum, Elevated circulating alkaline phosphatase c... OMIM:613312
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femoral head, Hip dy... OMIM:619598
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Broad femoral neck, Arthralgia of the hip, Flared femoral metaphysis, Genu ... OMIM:609324
Hypophosphatasia, Infantile
Unossified vertebral bodies, Metaphyseal cupping, Rachitic rosary, Micromelia, Increased suscepti... OMIM:241500
Malan Syndrome
Retrognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Long fingers, Mandibular... OMIM:614753
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Broad femoral neck, Ir... OMIM:132400
Restrictive Dermopathy 2
Short clavicles, Hypoplastic facial bones, Microretrognathia, Overtubulated long bones OMIM:619793
Hip Dysplasia, Beukes Type
Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he... ORPHA:2114
Achondrogenesis, Type Ib
Hypoplastic ilia, Narrow chest, Micromelia, Absent or minimally ossified vertebral bodies, Malar ... OMIM:600972
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Elevated circulating alkaline phosphatase con... OMIM:167250
Hurler Syndrome
Hypoplasia of the odontoid process, Cranial hyperostosis, Calvarial hyperostosis, Joint stiffness... OMIM:607014
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Deformed humerus, Micrognathia, Mandibular condyle hypoplasia, Prim... ORPHA:2975
Ring Chromosome 4 Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... ORPHA:1447
Achondrogenesis Type 1A
Narrow chest, Abnormal enchondral ossification, Micromelia, Micrognathia, Multiple rib fractures,... ORPHA:93299
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Small hand, Carious teeth, Decreased skull ossification, Stenosis of the medullary cav... ORPHA:93324
Craniofrontonasal Dysplasia
Abnormal clavicle morphology, Finger syndactyly, Sandal gap, Camptodactyly of finger, Down-slopin... ORPHA:1520
Ulna Metaphyseal Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Abnormal hip bone morphology, Abnormal morphology of ulna, Abno... ORPHA:1837
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ... OMIM:609616
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Coarse metaphyseal trabecularization, Epiphyseal stippling, Bowing of the long bones, Abnormal bo... ORPHA:1952
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Micrognathia, Long thorax, Brachydactyly, Mesomelia ORPHA:1277
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Toe syndactyly, Preaxial foot polydactyly, Symphalangism affecting the... ORPHA:1540
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Elevated circulating alkaline phosphatase concentration, Tooth abscess, Ir... ORPHA:89937
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Decreased body weight, Brachydactyly, Short femoral neck, Small for... OMIM:618392
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp... OMIM:215140
Pyknoachondrogenesis
Abnormal intramembranous ossification, Craniofacial hyperostosis, Short iliac bones, Micromelia, ... ORPHA:3003
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Slender finger, Small hand, Broad thumb, Osteopenia, Broad hallux, Dental malocclusion, Abnormal ... ORPHA:251028
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ad... OMIM:617719
Focal Dermal Hypoplasia
Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Abnormal epiphysis morph... ORPHA:2092
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Metaphyseal cupping, Pathologic fracture, Micrognathia, Hip contracture, Knee flexion... OMIM:156400
Metaphyseal Anadysplasia 2
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... OMIM:613073
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Micrognathia, ... OMIM:268310
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Rhizomelia, Narrow chest, Microretrognathia, Decreased calvarial ossification, Bowing... OMIM:616229
Acrodysostosis
Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Shor... ORPHA:950
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Pes planu... OMIM:190350
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Osteogenesis Imperfecta, Type Ix
Pectus carinatum, Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Decreased... OMIM:259440
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening... OMIM:300863
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Radial metaphyseal irregular... OMIM:177170
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation, Primary amen... OMIM:264270
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Broad femoral head, Redu... OMIM:620639
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Retrognathia, Camptodactyly of finger, Abnormal... ORPHA:2631
Atelosteogenesis, Type Ii
Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Thoracic h... OMIM:256050
Mesomelia-Synostoses Syndrome
Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Ulna... OMIM:600383
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Short... OMIM:169550
Odontochondrodysplasia
Dentinogenesis imperfecta, Narrow chest, Cone-shaped epiphysis, Square pelvis bone, Micromelia, D... ORPHA:166272
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Micromelia, Metaphyseal spurs, Posterior rib cupping, Irregular epiphyses, Thoracic hypoplasia, S... OMIM:608728
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... OMIM:259600
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Thoracic hypoplasia, Limited elbow extension, Limb undergrowth, Pectus excavatum, Bowing of the legs ORPHA:156728
Terminal Osseous Dysplasia
Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Mul... OMIM:300244
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Fibular overgrowth, Micromelia, Short femoral neck, Flared metap... OMIM:602557
Fibular Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna ORPHA:1118
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Carpal synostosis, Micrognathia, Patellar aplasia, Aphalangy of the ... OMIM:218600
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Camurati-Engelmann Disease, Type 2
Osteopenia, Hyperostosis, Hip contracture, Knee flexion contracture, Elevated circulating alkalin... OMIM:606631
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat... OMIM:142900
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
Restrictive Dermopathy 1
Rocker bottom foot, Natal tooth, Overtubulated long bones, Temporomandibular joint ankylosis, Inc... OMIM:275210
9Q31.1Q31.3 Microdeletion Syndrome
Short clavicles, Small hand, Mandibular prognathia, Tapered finger ORPHA:401923
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Increased circulating lactate dehydrogenase concentration, Flared metaphysis, Path... OMIM:259700
Ollier Disease
Micromelia, Abnormal cartilage morphology, Joint stiffness, Anemia, Multiple enchondromatosis, Ab... ORPHA:296
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Maxillozygomatic hypoplasia, Genu valgum, Malar flattening, Delayed eruption of teeth ORPHA:2972
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Narrow chest, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Shor... OMIM:611263
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Abnormal epiphysis morphology, Limitation of joint mobility, Epiphyseal stippling, Li... ORPHA:177
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hypoplastic ilia, Pectus carinatum, Delayed vertebral ossification, Flexion contracture, Long hal... OMIM:613330
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Sweeney-Cox Syndrome
Short distal phalanx of finger, Narrow chest, Micrognathia, 2-4 finger syndactyly, Short clavicle... OMIM:617746
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Osteomalacia, Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concen... OMIM:193100
Hypophosphatasia
Narrow chest, Bowing of the long bones, Abnormal rib morphology, Anemia, Craniosynostosis, Abnorm... ORPHA:436
Acrocapitofemoral Dysplasia
Pectus carinatum, Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck ... ORPHA:63446
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ... ORPHA:1275
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Rhizomelia, Narrow chest, Brain abscess, Femoral bowing, Tibial bowing, Neonatal death, Palmoplan... OMIM:616482
Schinzel-Giedion Midface Retraction Syndrome
Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Wide dista... OMIM:269150
Parietal Foramina With Cleidocranial Dysplasia
Short clavicles OMIM:168550
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Short 5th finger, Postaxial oligodactyly, Malar flattening, Talipes equinovarus, Brachydactyly, A... ORPHA:52056
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Joint contracture of the hand, Narrow chest, Limitation of joint mobility, Micromelia, Equinovaru... OMIM:224400
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,... ORPHA:73230
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Micromelia, Ca... ORPHA:2633
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... ORPHA:1836
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Micromelia, Abnormal femur morphology, Reduced bone miner... ORPHA:1508
Occipital Horn Syndrome
Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Pes planus, Abnormal fibula morph... ORPHA:198
Spondylometaphyseal Dysplasia, A4 Type
Limitation of joint mobility, Micromelia, Flared, irregular rib ends, Coxa vara, Short palm ORPHA:168555
Endocrine-Cerebroosteodysplasia
Narrow chest, Natal tooth, Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Microgna... OMIM:612651
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Genu valgum, Li... OMIM:271650
Mucopolysaccharidosis Type 4
Pectus carinatum, Carious teeth, Abnormal epiphysis morphology, Short thorax, Abnormal dental ena... ORPHA:582
Congenital Syphilis
Periostitis, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Hepatosplenomegaly, Tibial... ORPHA:499009
Achondrogenesis, Type Ii
Microretrognathia, Abnormal foot morphology, Short tubular bones of the hand, Hypoplastic iliac w... OMIM:200610
Osteopetrosis, Autosomal Dominant 1
Abnormal pelvic girdle bone morphology, Mandibular pain, Thickened cortex of long bones, Generali... OMIM:607634
Immunodeficiency 43
Reduced natural killer cell count, Radial bowing, Hypoplasia of the ulna, Lung abscess, B lymphoc... OMIM:241600
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Hypoplasia of the maxilla, Absent thumb, Short thumb, Oligodactyly, Hypopla... OMIM:263650
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Pectus carinatum, Hypoplasia of the odontoid process, Clinodactyly, Genu valgum, Delayed pubic bo... OMIM:184250
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Short thumb, Retrognathia, Micrognathia, Single t... OMIM:227270
Proteus Syndrome
Mandibular hyperostosis, Hypertrophy of skin of soles, Facial hyperostosis, Splenomegaly, Thin bo... OMIM:176920
Kenny-Caffey Syndrome, Type 1
Thin ribs, Small hand, Carious teeth, Slender long bone, Decreased skull ossification, Calvarial ... OMIM:244460
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Rachitic rosary, Osteomalacia, Pathologic fracture, Hypophosphatemic rickets, Elevated alkaline p... ORPHA:157215
Solitary Bone Cyst
Abnormal ilium morphology, Abnormal tibia morphology, Lytic defects of the radius, Pathologic fra... ORPHA:83468
Keipert Syndrome
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Hypoplasia of the ma... ORPHA:2662
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Osteolysis, Abnormal hip bone morphology, Gen... ORPHA:93160
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Heart Defects-Limb Shortening Syndrome
Narrow chest, Mesomelic/rhizomelic limb shortening, Death in infancy, Abnormal rib morphology, Ab... ORPHA:1354
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Fibular overgrowth, Abnormal epiphysis morphology, Thoracic hypo... ORPHA:93352
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Hallux valgus, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiph... ORPHA:397973
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Multiple Osteochondromas
Rib exostoses, Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology,... ORPHA:321
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Metaphyseal cupping, Narrow chest, Micromelia, Wide distal femor... OMIM:613320
Dysosteosclerosis
Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Absent frontal sinus... OMIM:224300
Glass Syndrome
Micrognathia, Malar flattening, Arachnodactyly, Talipes equinovarus, Camptodactyly, Generalized o... OMIM:612313
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Death in infancy, Sh... OMIM:617405
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Thoracic hypoplasia, Flared metaphysis, Decreased fibular diameter, Micrognathia, Dec... OMIM:616897
Hypophosphatasia, Adult
Carious teeth, Rickets, Osteomalacia, Pathologic fracture, Abnormal foot morphology, Increased su... OMIM:146300
Craniosynostosis, Herrmann-Opitz Type
Micromelia, Finger syndactyly, Micrognathia, Malar flattening, Brachydactyly, Split hand, Abnorma... ORPHA:2145
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long foot, Femoral bowing, Taurodontia, Short ste... ORPHA:2563
Fetal Akinesia Deformation Sequence 4
Retrognathia, 11 pairs of ribs, Micrognathia, Prenatal death, Neonatal death, Camptodactyly, Rock... OMIM:618393
Spondyloepiphyseal Dysplasia Congenita
Aplasia/hypoplasia involving bones of the extremities, Abnormal foot morphology, Upper limb under... ORPHA:94068
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Genu valgum, Micrognath... ORPHA:56304
Achondrogenesis
Narrow chest, Abnormal enchondral ossification, Micromelia, Micrognathia, Short thorax, Abnormali... ORPHA:932
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Irregular iliac crest, Short iliac bones, Abnormality of the epiphysis... ORPHA:93316
Autosomal Recessive Omodysplasia
Rhizomelia, Micromelia, Elbow dislocation, Abnormal femur morphology, Micrognathia, Abnormal morp... ORPHA:93329
Osteogenesis Imperfecta, Type Vi
Dentinogenesis imperfecta, Bowing of the arm, Increased susceptibility to fractures, Elevated cir... OMIM:613982
Dysostosis, Stanescu Type
Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morphology, Micromelia, Massively th... ORPHA:1798
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Carious teeth, Microretrognathia, Knee dislocation, Small epiphyses, Genu ... OMIM:618363
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal femur morphology, Joint h... ORPHA:429
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs ORPHA:66630
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Cooper-Jabs Syndrome
Camptodactyly of finger, Abnormal hip bone morphology, Malar flattening, Joint hypermobility, Mis... ORPHA:1488
Hypochondroplasia
Flared metaphysis, Trident hand, Limited elbow extension, Aplasia/hypoplasia of the extremities, ... OMIM:146000
Hyperparathyroidism, Transient Neonatal
Thin ribs, Osteopenia, Fractured rib, Narrow chest, Metaphyseal spurs, Femoral bowing, Undulate r... OMIM:618188
Stüve-Wiedemann Syndrome
Osteopenia, Absent patellar reflexes, Limitation of joint mobility, Micromelia, Camptodactyly of ... ORPHA:3206
Gm1-Gangliosidosis, Type Ii
Thoracolumbar kyphosis, Sea-blue histiocytosis, Joint stiffness, Splenomegaly, Decreased beta-gal... OMIM:230600
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Slender long bone, Retrognathia, Micrognathia, Decreased calvarial ossification, Brach... OMIM:618265
Acromesomelic Dysplasia, Maroteaux Type
Joint stiffness, Joint hypermobility, Bowing of the long bones, Sprengel anomaly, Brachydactyly, ... ORPHA:40
Familial Median Cleft Of The Upper And Lower Lips
Abnormal maxilla morphology, Abnormal mandible morphology ORPHA:401942
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Low alkaline phosphatase, Brachydactyly, Elevated circulating alkaline phosphatase concentration OMIM:618879
Ivic Syndrome
Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Joint stif... ORPHA:2307
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Camptodactyly of finger, Micrognathia, Mesomelic/rhizom... ORPHA:2839
Lenz-Majewski Hyperostotic Dwarfism
Aplastic clavicle, Mandibular prognathia, Limitation of joint mobility, Finger syndactyly, Crania... ORPHA:2658
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Tapered finger, Flat acetabular roof, Short femoral neck, Fused cervical vertebrae OMIM:617159
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ... OMIM:603546
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Clinodactyly of the 2nd finger, Micrognathia, Pes planus, Diaphyseal undertubulation, Patellar di... OMIM:620663
Osteogenesis Imperfecta, Type Xi
Osteopenia, Dentinogenesis imperfecta, Increased susceptibility to fractures, Elevated circulatin... OMIM:610968
Peroxisome Biogenesis Disorder 6A (Zellweger)
Epiphyseal stippling, Decreased liver function, Neonatal death OMIM:614870
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morpholog... ORPHA:1842
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Broad pha... OMIM:271665
Hypophosphatemic Bone Disease
Osteomalacia, Rickets, Bowing of the legs OMIM:146350
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Preaxial foo... OMIM:277170
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Recurrent fractures, Short humerus, Elevated circulating alkaline phosphatase concent... OMIM:239000
Acrocephalopolydactyly
Genu recurvatum, Thoracic hypoplasia, Hepatosplenomegaly, Limb undergrowth, Brachydactyly, Short ... ORPHA:221054
Fibrochondrogenesis 2
Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Micrognathia, Bell-shaped thorax, Mal... OMIM:614524
Atelosteogenesis Type I
Rhizomelia, Narrow chest, Thoracic hypoplasia, Absent or minimally ossified vertebral bodies, Mic... ORPHA:1190
Mucopolysaccharidosis, Type Ivb
Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Hypoplasia of the capi... OMIM:253010
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Elbow contracture, Irregular epiphyses, Sclerosis of skull base, Delayed pubic bone o... OMIM:618162
Pycnodysostosis
Small hand, Carious teeth, Acromelia, Hypoplastic iliac wing, Hepatosplenomegaly, Micrognathia, D... ORPHA:763
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Bro... OMIM:228520
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Bila... ORPHA:1972
Achondroplasia
Thoracolumbar kyphosis, Rhizomelia, Hip joint hypermobility, Thoracic hypoplasia, Trident hand, L... ORPHA:15
Pachydermoperiostosis
Small hand, Clubbing of toes, Abnormal epiphysis morphology, Palmoplantar keratoderma, Limitation... ORPHA:2796
Split-Hand/Foot Malformation 3
Camptodactyly, Hypoplasia of the maxilla, Microretrognathia, Split hand OMIM:246560
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla OMIM:618383
Microcephaly-Micromelia Syndrome
Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial syn... OMIM:251230
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Osteopetrosis, Elevated circulating alkaline phosphatase concentr... OMIM:620366
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... ORPHA:2634
Spondylometaphyseal Dysplasia, Algerian Type
Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v... OMIM:184253
Al-Gazali Syndrome
Osteopenia, Broad distal phalanx of finger, Micrognathia, Recurrent fractures, Bowed humerus, Wri... OMIM:609465
Ventriculomegaly With Defects Of The Radius And Kidney
Bowed forearm bones, Forearm undergrowth, Absent thumb, Absent radius OMIM:602200
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Aplastic clavicle, Coronal craniosynostosis, Abnormal clavicle morphology, Abnormal dental enamel... ORPHA:85199
Stuve-Wiedemann Syndrome 2
Neonatal death, Bowing of the long bones, Short long bone, Stillbirth, Camptodactyly OMIM:619751
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Broad femoral neck, Failure to thrive, Abnormal metaphysis morphology, Flat capital f... ORPHA:157965
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Short femoral neck, Knee dislocation, Joint hypermobility, Carpal bone hypoplasia, Pes... OMIM:618395
Holt-Oram Syndrome
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Abnormal clavicle... ORPHA:392
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Broad foot, Bowing of the long bones, Broad phalanx, Short foo... OMIM:166250
Spondyloepiphyseal Dysplasia, Kimberley Type
Abnormal epiphysis morphology, Micromelia, Osteoarthritis, Short thorax ORPHA:93283
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Paget disease of bone, Elevated circulating alkaline phosphatase concentration OMIM:615422
Mesomelia-Synostoses Syndrome
Synostosis of joints, Synostosis of carpal bones, Abnormal tibia morphology, Genu valgum, Microgn... ORPHA:2496
Campomelia, Cumming Type
Clubbing of toes, Micromelia, Abnormal thorax morphology, Death in infancy, Bowing of the long bo... ORPHA:1318
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa... ORPHA:85170
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Pectus carinatum, Hypoplasia of the odontoid process, Carious teeth, Genu... OMIM:253000
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteomalacia, Micrognathia, Bilateral single transverse palmar creases, Abnormal metacarpal morph... ORPHA:2636
Coxopodopatellar Syndrome
Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ... ORPHA:1509
Oculodentodigital Dysplasia
Carious teeth, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Short hallux, Mandi... ORPHA:2710
Osteogenesis Imperfecta, Type Vii
Osteopenia, Rhizomelia, Narrow chest, Dentinogenesis imperfecta, Micromelia, Crumpled long bones,... OMIM:610682
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Abnormal metacarpal morphology, Decreased fertility, Abnormal morphology of ulna ORPHA:2233
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal rib morphology,... ORPHA:1988
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Micromelia, Flared metaphysis, ... OMIM:187601
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Micrognathia, Hip contracture, Bowing of the long bones, Talipes e... OMIM:255800
Ulnar-Mammary Syndrome
Short 5th finger, Hypoplastic scapulae, Aplasia of the 3rd finger, Short 5th toe, Short 4th toe, ... OMIM:181450
Boudin-Mortier Syndrome
Clinodactyly, Pseudoepiphysis of the 1st metacarpal, Long hallux, Mallet finger, Pseudoepiphyses ... OMIM:619543
Osteogenesis Imperfecta
Thin ribs, Carious teeth, Abnormal tibia morphology, Genu valgum, Micrognathia, Decreased skull o... ORPHA:666
Raine Syndrome
Mandibular prognathia, Arthrogryposis multiplex congenita, Micromelia, Thoracic hypoplasia, Natal... OMIM:259775
Acromicric Dysplasia
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Short long bone, Short foot, Short phal... OMIM:102370
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Micromelia, Joint hypermobility, Decreased calvarial ossification, Abnormal rib morphology, Recur... ORPHA:2772
Stickler Syndrome Type 1
Abnormal vertebral epiphysis morphology, Hypoplasia of the maxilla, Abnormal epiphysis morphology ORPHA:90653
Recon Progeroid Syndrome
Long thumb, Prominence of the premaxilla, Arachnodactyly, Delayed eruption of permanent teeth, Pr... OMIM:620370
Ear-Patella-Short Stature Syndrome
Aplastic clavicle, Hypoplasia of the maxilla, Abnormal epiphysis morphology, Slender long bone, E... ORPHA:2554
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Abnormal pelvic girdle bone morphology, Shoulder girdle muscle weakness, Scapular winging, Paget ... OMIM:167320
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Pathologic fracture, Increased susceptibility to fractures, Barrel-shaped chest, Tibi... OMIM:259770
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Complete duplication o... ORPHA:363417
Ulna Hypoplasia-Intellectual Disability Syndrome
Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Joint stiffness... ORPHA:2249
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Clinodactyly, Camptodactyly of finger, Talipes equinovarus, Short palm... ORPHA:85279
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hypoplastic ilia, Narrow chest, Limitation of joint mobility, Micromelia, Broad long bones, Clubb... ORPHA:1865
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Ulnar deviation of finger, Camptodactyly of finger, Abnormality of the... ORPHA:1529
Floating-Harbor Syndrome
Broad thumb, Short 1st metacarpal, Carious teeth, Ivory epiphyses of the distal phalanges of the ... OMIM:136140
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Micrognathia, Joint hypermobility, Abnormal rib morphology, Pectus excavatum, Hypoplastic distal ... OMIM:602196
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Broad thumb, Malar flattening, Broad hallux phalanx ORPHA:261295
Holzgreve Syndrome
Joint stiffness, Abnormal morphology of ulna, Hand polydactyly, Abnormal metacarpal morphology, A... ORPHA:2167
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal rib cage morphology, Pectus carinatum, Hypoplasia of the odontoid process, Dumbbell-shap... OMIM:184252
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu valgum, Broad foot, Carpal bone hypoplasia, Metaphyseal dysplasia, Broad phalanx, Short foot... OMIM:250420
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ... ORPHA:440354
Rothmund-Thomson Syndrome
Carious teeth, Aplastic anemia, Aplasia/Hypoplasia of the patella, Neutropenia, Leukemia, Osteope... ORPHA:2909
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Pathologic fracture, Increased susceptibility to fractures, Abnormal long bone morphology, Elevat... ORPHA:52430
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Cone-shaped epiphysis, Horizontal ribs, Splenomegaly, Short ribs, Postaxial polydac... OMIM:617088
Maxillonasal Dysplasia
Hypoplasia of the maxilla, Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phala... ORPHA:1248
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral triphalangeal thumbs, Short distal phalanx of finger, Abnormality of alkaline phosphata... OMIM:619356
Weill-Marchesani Syndrome 1
Hypoplasia of the maxilla, Broad phalanges of the hand, Broad ribs, Joint stiffness, Brachydactyl... OMIM:277600
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, ... OMIM:166260
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Abnormality of the ankle, Microretro... ORPHA:1307
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Death in childhood, Death in infancy, Multiple... OMIM:612301
Antley-Bixler Syndrome
Narrow chest, Hypoplasia of the zygomatic bone, Camptodactyly of finger, Joint stiffness, Femoral... ORPHA:83
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Abnormal cortical bone ... OMIM:614886
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... OMIM:612447
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Sh... OMIM:113000
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Hypoplasia of the maxilla, Genu valgum, Limb undergrowth OMIM:619142
Frank-Ter Haar Syndrome
Osteopenia, Broad clavicles, Dental malocclusion, Flared metaphysis, Cortical irregularity, Micro... OMIM:249420
Pseudoleprechaunism Syndrome, Patterson Type
Hyperplasia of the maxilla, Long foot, Metaphyseal sclerosis, Genu valgum, Delayed pubic bone oss... ORPHA:2976
Pde4D Haploinsufficiency Syndrome
Hypoplasia of the maxilla, Cone-shaped epiphysis, Short toe, Broad hallux, Upper limb undergrowth... ORPHA:439822
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal epiphysis morphology, Enamel hypoplasia, Brachydactyly, Neutropenia, Abnormal rib morpho... ORPHA:2643
Shprintzen-Goldberg Craniosynostosis Syndrome
Thin ribs, Joint contracture of the hand, Genu valgum, Micrognathia, Arachnodactyly, Talipes equi... OMIM:182212
3M Syndrome
Thin ribs, Congenital hip dislocation, Rocker bottom foot, Slender long bone, Micromelia, Short t... ORPHA:2616
Schinzel-Giedion Syndrome
Short distal phalanx of finger, Short 1st metacarpal, Abnormal clavicle morphology, Retrognathia,... ORPHA:798
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla OMIM:137550
Faciocardiomelic Syndrome
Osteopenia, Narrow chest, Dental malocclusion, Slender long bone, Hyperplasia of the maxilla, Hyp... OMIM:612731
ERI1-related disease
Osteopenia, Pectus carinatum, Narrow chest, Slender metacarpals, Oligodactyly, Clinodactyly of th... OMIM:608739
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Narrow chest, Carious teeth, Sandal gap, Co... OMIM:617102
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Finger swelling, Hypoplasia of the odontoid process, Limitation of joint mob... ORPHA:93284
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Narrow chest, Thoracic hypoplasia, Proximal femoral metaphyseal irregularity, Splenom... OMIM:602271
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Malar flattening, Barrel-shaped chest... OMIM:612813
Juvenile Paget Disease
Pectus carinatum, Coarse metaphyseal trabecularization, Abnormal clavicle morphology, Cranial hyp... ORPHA:2801
Spastic Paraplegia 16, X-Linked
Short distal phalanx of finger, Hypoplasia of the maxilla OMIM:300266
3Mc Syndrome 2
Caudal appendage, Limited elbow movement, Prominence of the premaxilla, Radioulnar synostosis, Hi... OMIM:265050
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Small hand, Broad femoral neck, Retrognathia, Distal shortening of limbs, Thickened c... ORPHA:488434
Chime Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle, Abnormal ep... ORPHA:3474
Dysspondyloenchondromatosis
Lower limb asymmetry, Genu valgum, Metaphyseal enchondromatosis, Generalized joint hypermobility,... ORPHA:85198
Rothmund-Thomson Syndrome Type 2
Carious teeth, Aplastic anemia, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper... ORPHA:221016
Smith-Mccort Dysplasia 1
Hypoplastic facial bones, Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplasia of the odontoi... OMIM:607326
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Micromelia, Malar flattening, Fibular hypop... ORPHA:3144
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Rickets, Retrognathia, Osteomalacia, Avascular necrosis of the capital femoral epiphy... ORPHA:1901
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Narrow chest, Micromel... ORPHA:85166
Laron Syndrome
Delayed menarche, Limb undergrowth, Short long bone OMIM:262500
Nager Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hypoplasia of the zygomatic bone, Mi... ORPHA:245
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Osteopenia, Carious teeth, Aplastic anemia, Delayed eruption... ORPHA:221008
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Horizontal inferior border... ORPHA:239
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Missing ribs, Abnormal vertebral segmentation and ... ORPHA:66637
Progressive Pseudorheumatoid Dysplasia
Joint contracture of the hand, Abnormal foot morphology, Camptodactyly of finger, Joint stiffness... OMIM:208230
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mesomelia, Osteopenia, Rhizomelia, Mandibular prognathia, Small epiphyses, Genu valgum, Limited e... OMIM:271510
Osteogenesis Imperfecta, Type Xvii
Dentinogenesis imperfecta, Thin metacarpal cortices, Recurrent fractures, Joint hypermobility, Bo... OMIM:616507
Bruck Syndrome 2
Osteopenia, Pectus carinatum, Elbow flexion contracture, Femoral bowing, Increased susceptibility... OMIM:609220
Diastrophic Dysplasia
Ulnar deviation of finger, Short finger, Irregular epiphyses, Genu valgum, Hip contracture, Talip... OMIM:222600
Anauxetic Dysplasia 3
Broad middle phalanx of finger, Metaphyseal cupping, Narrow chest, Retrognathia, Short middle pha... OMIM:618853
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Metaphyseal cupping of metacarpals, Hypoplasia of the odontoid process, Cone-shaped ca... OMIM:300232
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures OMIM:615066
Dent Disease
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri... ORPHA:1652
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Retrognathia, Elbow dislocation, Knee dislocation, Small epiphyses, Adducted thumb, Short long bo... OMIM:620269
Osteogenesis Imperfecta, Type Xiii
Pectus carinatum, Dentinogenesis imperfecta, Wide distal femoral metaphysis, Femoral bowing, Wide... OMIM:614856
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal pelvic girdle bone morphology, Narrow chest, Micromelia, Increased skull ossification, B... ORPHA:1422
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra... OMIM:615633
Hutchinson-Gilford Progeria Syndrome
Limitation of joint mobility, Retrognathia, Delayed eruption of teeth, Limited wrist movement, Im... ORPHA:740
Glycosylphosphatidylinositol Biosynthesis Defect 16
Elevated circulating alkaline phosphatase concentration OMIM:617816
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Horizontal i... OMIM:250220
Nievergelt Syndrome
Genu valgum, Pes cavus, Talipes equinovarus, Radioulnar synostosis, Metatarsus adductus, Tarsal s... OMIM:163400
Lathosterolosis
2-3 toe cutaneous syndactyly, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis,... OMIM:607330
Meier-Gorlin Syndrome 1
Thin ribs, Small hand, Joint contracture of the hand, Elbow dislocation, Cutaneous finger syndact... OMIM:224690
Mosaic Trisomy 14
Narrow chest, Lower limb asymmetry, Camptodactyly of finger, Micrognathia, Bilateral single trans... ORPHA:1703
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... OMIM:201000
Camurati-Engelmann Disease
Carious teeth, Limitation of joint mobility, Abnormal tibia morphology, Genu valgum, Pes planus, ... ORPHA:1328
Uruguay Faciocardiomusculoskeletal Syndrome