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Gene: Ifitm5 MGI:1934923

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

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 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.

Human diseases associated with Ifitm5 (1 diseases)
Human diseases predicted to be associated with Ifitm5 (1106 diseases)

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, Hyperextensibility of the finger joints, Pes planus, Recurrent fractures, Abnormal pe...	OMIM:610967

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

Disease	Matching phenotypes	Source
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Hyperostosis Corticalis Generalisata	Mandibular prognathia, Abnormal clavicle morphology, Generalized osteosclerosis, Cranial hyperost...	ORPHA:3416
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:600081
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal rib morpho...	ORPHA:2790
Osteosclerotic Metaphyseal Dysplasia	Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Elevated circulat...	OMIM:615198
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive	OMIM:600121
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars...	ORPHA:93307
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Pyle Disease	Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t...	OMIM:265900
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Elbow disl...	OMIM:171480
Cleidocranial Dysplasia 2	Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the ...	OMIM:620099
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Splenomegal...	ORPHA:3035
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow...	OMIM:602111
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurr...	OMIM:264700
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:241530
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity...	OMIM:249700
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurr...	OMIM:277440
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Micro...	ORPHA:2484
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le...	OMIM:249710
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han...	OMIM:200600
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Temporomandibular joint ankylosis, Lateral humeral ...	OMIM:164900
Eiken Syndrome	Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S...	ORPHA:79106
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long...	OMIM:151210
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Atelosteogenesis, Type Iii	Radial bowing, Sandal gap, Rhizomelia, Micrognathia, Tombstone-shaped proximal phalanges, Hypopla...	OMIM:108721
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty...	ORPHA:3152
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacia...	OMIM:122860
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Missing ribs, Postaxial polydactyly, ...	OMIM:617866
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Gnathodiaphyseal Dysplasia	Osteopenia, Broad jaw, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, T...	ORPHA:53697
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera...	OMIM:307800
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Thin bony cortex, Enlargement of the ankles, Elevated alkaline phospha...	ORPHA:289157
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Death in infancy, Micrognathia, Wide anterior fontanel, Ulnar bowing, Sho...	OMIM:619135
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Osteogenesis Imperfecta, Type X	Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing...	OMIM:613848
Osseous Heteroplasia, Progressive	Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue	OMIM:166350
Grant Syndrome	Bowing of the long bones, Micrognathia, Abnormal cortical bone morphology, Abnormal rib morpholog...	ORPHA:2097
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Abnormal ...	ORPHA:2635
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinat...	OMIM:223800
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Osteopenia, Short metacarpal, Radial bowing, Joint laxity, Recurrent fractur...	OMIM:610915
Bent Bone Dysplasia Syndrome 1	Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Hepatosplenomegaly, Bell-shape...	OMIM:614592
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Absent ossification of c...	OMIM:166210
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup...	OMIM:112350
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ili...	ORPHA:1452
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Grant Syndrome	Micrognathia, Down-sloping shoulders, Tibial bowing	OMIM:138930
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ...	OMIM:259420
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Micromelia, Bo...	OMIM:211350
Shox-Related Short Stature	Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lo...	ORPHA:314795
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl...	OMIM:210720
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Joint stiffness, Cupped ribs, Metaphyseal widening, Dental malocclu...	OMIM:608940
Metaphyseal Dysplasia, Spahr Type	Progressive leg bowing, Metaphyseal dysplasia, Bowing of the legs, Metaphyseal sclerosis, Metaphy...	OMIM:250400
Van Buchem Disease	Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Cranial ...	OMIM:239100
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the lower limb, Aplasia/Hyp...	ORPHA:1040
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Mi...	ORPHA:313855
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Br...	OMIM:300106
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonatal death, Ve...	OMIM:108720
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, 2-3 toe...	OMIM:600920
Kniest Dysplasia	Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Pectus excavatum, Abnormal cartilage coll...	OMIM:156550
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures...	OMIM:300554
Paget Disease Of Bone 4	Elevated circulating alkaline phosphatase concentration, Osteolysis	OMIM:606263
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, ...	OMIM:620076
Hypophosphatasia, Childhood	Craniosynostosis, Bowing of the legs, Carious teeth, Low alkaline phosphatase, Rachitic rosary	OMIM:241510
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Osteopenia, Recurrent shoulder dislocation, Down-sloping shoulders, Short clavicles, Retrognathia...	OMIM:212112
Achondroplasia	Death in infancy, Brachydactyly, Radial bowing, Rhizomelia, Short femur, Limited hip extension, B...	OMIM:100800
Osteosarcoma	Abnormal femoral metaphysis morphology, Abnormal lactate dehydrogenase level, Osteolysis, Weight ...	ORPHA:668
Familial Expansile Osteolysis	Bowing of the long bones, Osteolysis, Elevated circulating alkaline phosphatase concentration, Pa...	OMIM:174810
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,...	OMIM:619636
Blount Disease, Adolescent	Genu varum, Bowing of the legs	OMIM:259200
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de...	ORPHA:970
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Radial bowing, Madelung deformity, Limited pronation/supination of forearm	DECIPHER:58
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis...	OMIM:207410
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr...	ORPHA:166277
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb undergrowth, Ab...	ORPHA:2204
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in...	ORPHA:75508
Metaphyseal Chondrodysplasia, Schmid Type	Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met...	OMIM:156500
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Pectus excavatum, Multiple prena...	OMIM:301014
Desbuquois Dysplasia 2	Single transverse palmar crease, Metaphyseal widening, Pectus carinatum, Knee dislocation, Narrow...	OMIM:615777
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Coxa valg...	ORPHA:85184
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Carious teeth, Metaphyse...	ORPHA:2501
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Narrow chest, Flared elbow...	ORPHA:1423
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b...	ORPHA:2878
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor...	ORPHA:1263
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Short met...	ORPHA:93351
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormally o...	ORPHA:1427
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Malar flattening, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb u...	OMIM:118651
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Micrognathia, Abnormality of the elbow, Abnormal rib morphology, Limitation ...	ORPHA:1486
Tibial Torsion, Bilateral Medial	Bowing of the legs, Tibial torsion	OMIM:188800
Greenberg Dysplasia	Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathi...	ORPHA:1426
Gorham-Stout Disease	Osteopenia, Abnormality of the temporomandibular joint, Abnormal pelvis bone morphology, Elevated...	ORPHA:73
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening	ORPHA:1513
Craniometadiaphyseal Dysplasia	Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Coxa valga, Carious teeth, Wide...	OMIM:269300
Dent Disease 1	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures...	OMIM:300009
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Elevated circulating alkaline phosphatase conc...	OMIM:619073
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta...	OMIM:609052
Cleidocranial Dysplasia 1	Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, Coxa vara, Narrow c...	OMIM:119600
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Delayed ossification of ...	OMIM:617974
Rhyns Syndrome	Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly	OMIM:602152
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con...	OMIM:271640
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv...	OMIM:215045
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ...	OMIM:619795
Ck Syndrome	Micrognathia, Retrognathia, Malar flattening, Abnormal cortical bone morphology, Abnormal digit m...	OMIM:300831
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should...	OMIM:274000
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Marshall Syndrome	Radial bowing, Coxa valga, Hypoplastic ilia, Micrognathia, Ulnar bowing, Irregular femoral epiphy...	OMIM:154780
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of j...	ORPHA:2741
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ...	OMIM:618019
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna...	ORPHA:3268
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ...	OMIM:156530
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, E...	ORPHA:289176
Van Maldergem Syndrome 1	Osteopenia, Joint laxity, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Wide ...	OMIM:601390
Pacman Dysplasia	Epiphyseal stippling, Bowing of the long bones	OMIM:167220
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal metacarpal morphology, Cli...	ORPHA:3104
Mueller-Weiss Syndrome	Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone...	ORPHA:566943
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Genu recurvatum, Single transverse palmar crease, Micrognathia, Flexion contracture, ...	OMIM:130070
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Straight clavicles, Short clavicles, Multiple impacted teeth,...	OMIM:113300
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Enlarged Parietal Foramina	Broad thumb, Short clavicles, Craniosynostosis	ORPHA:60015
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Genu recurvatum, Flexion contracture, Tibial bowing, Knee dislocation, Sho...	OMIM:143095
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta...	OMIM:250460
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Thoracic kyphosis, Short 4th metacarpal...	OMIM:619638
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ...	ORPHA:166002
Cranio-Osteoarthropathy	Abnormality of the knee, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of ...	ORPHA:1525
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Holt-Oram Syndrome	Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Pectu...	OMIM:142900
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Single transverse palmar crease, Unilateral cryptorchidism, Capitate-...	OMIM:206920
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Microretrognathia, Short 4th metacarpal, Short clavicles, Joint laxity	OMIM:606220
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Death in infancy, Toe syndactyly, Elbow flexion contracture, 2-3 toe...	OMIM:616809
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral densi...	ORPHA:50945
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contra...	OMIM:601559
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna...	OMIM:613849
Acromesomelic Dysplasia 1	Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the rad...	OMIM:602875
X-Linked Hypophosphatemia	Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,...	ORPHA:89936
Van Maldergem Syndrome 2	Osteopenia, Joint laxity, Short fourth metatarsal, Ulnar deviation of the hand, Micrognathia, Hyp...	OMIM:615546
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Micrognathia, Flexion contracture, Hypoplasia of teeth, Progressive cla...	OMIM:608612
Marbach-Rustad Progeroid Syndrome	Femur fracture, Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Er...	OMIM:619322
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius	ORPHA:1765
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti...	OMIM:304120
W Syndrome	Hypoplasia of the ulna, Pes planus, Radial bowing, Metatarsus adductus, Elbow dislocation, Agenes...	ORPHA:2804
Xylt1-Cdg	Joint laxity, Pes planus, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Sho...	ORPHA:370930
Melnick-Needles Syndrome	Delayed eruption of teeth, Short humerus, Obtuse angle of mandible, Hypoplastic scapulae, Pes pla...	OMIM:309350
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Rocker bottom foot, Recurrent fractures, Micrognathia, Talipes equinovalgus, Tibia...	ORPHA:453510
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ...	ORPHA:93267
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Epiphyseal dysplasia, Arachnodactyly, Elevated alkaline phosphatase of bone origin, B...	OMIM:615923
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Aplasia/Hypopla...	ORPHA:971
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Osteogenesis Imperfecta, Type Xxi	Barrel-shaped chest, Pes planus, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa ...	OMIM:619131
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi...	OMIM:308050
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope...	ORPHA:210110
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Pectus carinatum, Tibial bowing, Narrow chest, Short pa...	ORPHA:175
Hemidystonia-Hemiatrophy Syndrome	Rhizomelic leg shortening, Abnormal paranasal sinus morphology, Hemiatrophy, Advanced pneumatizat...	ORPHA:306741
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Hypoplasia of the maxilla, Genu valgum, Slender long bones with narrow diaphyses, Abn...	OMIM:608154
Heart-Hand Syndrome Type 2	Abnormal clavicle morphology, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micro...	ORPHA:1350
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Deviation of f...	ORPHA:2412
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Recurrent fractures, ...	OMIM:231070
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Caffey Disease	Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios...	ORPHA:1310
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav...	ORPHA:2769
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx ...	OMIM:184260
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Brachydactyly, Recurrent fractures, Micrognathia, Hypoplasia of the ma...	OMIM:601812
Diastrophic Dysplasia	Abnormal clavicle morphology, Bowing of the long bones, Increased bone mineral density, Camptodac...	ORPHA:628
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Coxa vara, Tibial bowing, Pectus carinatum, Reduced bone mineral density, Iron deficiency anemia,...	ORPHA:93315
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Delayed tarsal ossification, ...	OMIM:600002
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Down-sloping shoulders, Coxa valga, Micrognathia, Joint stiffness, Flexion contractur...	OMIM:248370
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Flared ...	OMIM:156510
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal ...	OMIM:144750
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Radial bowing	OMIM:617993
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe...	OMIM:614078
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa...	ORPHA:249
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ...	ORPHA:85165
Pycnodysostosis	Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Persiste...	OMIM:265800
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir...	OMIM:618728
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili...	ORPHA:93296
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Thoracomelic Dysplasia	Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Joint hyperflexib...	ORPHA:1803
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto...	OMIM:135100
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Elevated circulating alkaline phosphatase concentration, Increased spinal bone density	ORPHA:329475
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ...	ORPHA:2879
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing, Elevated circulatin...	OMIM:126550
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol...	ORPHA:1106
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Femoral bowing, E...	OMIM:602080
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Join...	OMIM:268310
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplas...	OMIM:276820
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital...	ORPHA:93308
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ...	ORPHA:1512
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patell...	OMIM:114290
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Metaphyseal widening, Squared iliac bones, Short long bone,...	OMIM:618961
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Hypophosphatemic Rickets, Autosomal Recessive, 2	Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Elevated circulating alkaline phosph...	OMIM:613312
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Osteolysis, Short distal phalanx of finger	ORPHA:2776
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Cdags Syndrome	Sagittal craniosynostosis, Short ribs, Lambdoidal craniosynostosis, Short clavicles, Malar flatte...	OMIM:603116
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Single trans...	ORPHA:536471
Mandibuloacral Dysplasia	Micrognathia, Hypoplasia of teeth, Contractures of the large joints, Osteolytic defects of the di...	ORPHA:2457
Occipital Horn Syndrome	Joint laxity, Short humerus, Pes planus, Pelvic bone exostoses, Broad clavicles, Pectus excavatum...	OMIM:304150
Achondrogenesis Type 1B	Micromelia, Micrognathia, Abnormal enchondral ossification, Short thorax, Abnormal rib morphology...	ORPHA:93298
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Coxa valga, Osteoporosis, Finger clinodactyly, Patellar subluxation, Bilateral talipes equinovaru...	ORPHA:2958
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Lateral clavicle hook, Sna...	OMIM:269250
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl...	ORPHA:2141
Hypophosphatasia, Infantile	Death in infancy, Micromelia, Bowing of the legs, Craniosynostosis, Low alkaline phosphatase, Inc...	OMIM:241500
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap...	OMIM:619598
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar...	ORPHA:2639
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ulnar deviation of the hand, Ankle swelling, Micrognathia, Wrist swelling, Hypoplasia...	OMIM:166300
Paget Disease Of Bone 3	Fractures of the long bones, Elevated circulating alkaline phosphatase concentration, Osteolysis,...	OMIM:167250
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Abnormality of the hand, Proximal femoral me...	OMIM:609324
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Pes planus, Joint stiffness, Avascular necrosis of the ca...	OMIM:132400
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Restrictive Dermopathy 2	Microretrognathia, Overtubulated long bones, Hypoplastic facial bones, Short clavicles	OMIM:619793
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Stillbirth, Narrow chest, Absent or minimally ossified vertebral bo...	OMIM:600972
Achondrogenesis Type 1A	Multiple rib fractures, Recurrent fractures, Micromelia, Micrognathia, Abnormal enchondral ossifi...	ORPHA:93299
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Advanced eruption...	OMIM:614753
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Hurler Syndrome	Hypoplasia of the femoral head, Coxa valga, Joint stiffness, Hypoplasia of the odontoid process, ...	OMIM:607014
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Rhizomeli...	OMIM:616229
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia...	OMIM:156400
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia, Elevated circulating alkaline ...	ORPHA:89937
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Small hand, Th...	ORPHA:93324
Craniofrontonasal Dysplasia	Abnormal clavicle morphology, Finger syndactyly, Broad hallux phalanx, Sandal gap, Down-sloping s...	ORPHA:1520
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bo...	ORPHA:1952
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Long thorax, Mesomelia, Brachydactyly	ORPHA:1277
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Pes planus, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phal...	OMIM:609616
Ulna Metaphyseal Dysplasia Syndrome	Abnormal morphology of ulna, Abnormal fibula morphology, Aplasia/Hypoplasia of the radius, Abnorm...	ORPHA:1837
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Abnormality of the knee, Broad hallux, Micrognathia, Generalized joint laxity, Small ...	ORPHA:251028
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Small for gestational age, Reduced bone mineral density, Delayed ossification of carpal bones, Sh...	OMIM:618392
Focal Dermal Hypoplasia	Acute hepatic failure, Finger syndactyly, Toe syndactyly, Abnormal palmar dermatoglyphics, Campto...	ORPHA:2092
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, ...	ORPHA:96334
Greenberg Dysplasia	Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Patchy variation in bone minera...	OMIM:215140
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c...	OMIM:300863
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphys...	OMIM:177170
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Mesomelia, Abnormal epiphys...	ORPHA:2631
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fractures, Dentinogenesis i...	OMIM:259440
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles, Primary amenorrhea, Ulnar radial head dislo...	OMIM:264270
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met...	ORPHA:1540
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Femur fracture, Pancytopenia, Craniosynostosis, Ca...	OMIM:259700
Camurati-Engelmann Disease, Type 2	Osteopenia, Hip contracture, Knee flexion contracture, Hyperostosis, Elevated circulating alkalin...	OMIM:606631
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap...	OMIM:608728
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat...	OMIM:147891
Atelosteogenesis, Type Ii	Death in infancy, Sandal gap, Micromelia, Micrognathia, Bifid humerus, Lacunar halos around chond...	OMIM:256050
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Bowing of the legs, Pectus excavatum, Limb undergrowth, Limited elbow extension, Thoracic hypoplasia	ORPHA:156728
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification...	OMIM:300244
Odontochondrodysplasia	Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Micromelia, Coxa valga, Co...	ORPHA:166272
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Hypoplasia of th...	OMIM:218600
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short...	OMIM:169550
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Micromelia, Splenomegaly, Delayed epiphyseal ossification, Flared metaphysis, Verte...	OMIM:602557
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,...	OMIM:259600
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi...	ORPHA:2019
Restrictive Dermopathy 1	Natal tooth, Limb joint contracture, Rocker bottom foot, Micrognathia, Thin clavicles, Ankylosis,...	OMIM:275210
9Q31.1Q31.3 Microdeletion Syndrome	Mandibular prognathia, Small hand, Short clavicles, Tapered finger	ORPHA:401923
Acrodysostosis	Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu...	ORPHA:950
Ollier Disease	Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis...	ORPHA:296
Brachyolmia Type 1, Hobaek Type	Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short iliac bones...	OMIM:271530
Hypophosphatemic Rickets, Autosomal Dominant	Osteomalacia, Abnormality of the lower limb, Rickets, Elevated circulating alkaline phosphatase c...	OMIM:193100
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Limitation of joint mobility, Epiphyseal stippling, Abnormal epiphysis morphology, Li...	ORPHA:177
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Malar flattening, Maxillozygomatic hypoplasia, Genu valgum	ORPHA:2972
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Narrow chest, M...	OMIM:611263
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Delayed vertebral ossification, Thoracic kyphoscoliosis, Enlarged epiphyses, Metaphyseal dysplasi...	OMIM:613330
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Pectus excavatum,...	ORPHA:63446
Hypophosphatasia	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Narrow ...	ORPHA:436
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Micrognathia, Asplenia, Long fingers, Wid...	OMIM:617746
Schinzel-Giedion Midface Retraction Syndrome	Long clavicles, Increased density of long bones, Single transverse palmar crease, Malar flattenin...	OMIM:269150
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Abnorma...	ORPHA:1275
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Rhizomelia, Wide anterior fontanel, Tibial bowing, Femoral bowing, Narrow chest, N...	OMIM:616482
Parietal Foramina With Cleidocranial Dysplasia	Short clavicles	OMIM:168550
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor...	ORPHA:1836
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated hepatic transaminase, Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Tr...	ORPHA:73230
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe...	ORPHA:1508
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Limitation of joint mobility, Coxa vara, Flared, irregular rib ends, Short palm	ORPHA:168555
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Osteopetrosi...	OMIM:607634
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing, Lung abscess, B lymphocytopenia, Reduced natural killer ce...	OMIM:241600
Occipital Horn Syndrome	Osteopenia, Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short palm, Large iliac win...	ORPHA:198
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Enlargement of the costochondral jun...	OMIM:271650
Endocrine-Cerebroosteodysplasia	Barrel-shaped chest, Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Si...	OMIM:612651
Proteus Syndrome	Splenomegaly, Mandibular hyperostosis, Hypertrophy of skin of soles, Calvarial hyperostosis, Faci...	OMIM:176920
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Micrognathia, Primary amenorrhea, Deformed humerus, Mandibular cond...	ORPHA:2975
Achondrogenesis, Type Ii	Barrel-shaped chest, Microretrognathia, Absent vertebral body mineralization, Broad long bones, S...	OMIM:200610
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus deformity, Meta...	OMIM:224400
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln...	OMIM:263650
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Hypoplasia of the max...	ORPHA:397973
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Decreased fibular diameter, Be...	OMIM:616897
Kenny-Caffey Syndrome, Type 1	Long clavicles, Carious teeth, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bo...	OMIM:244460
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b...	OMIM:224300
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hypoplasia of the od...	OMIM:184250
Mucopolysaccharidosis Type 4	Bowing of the long bones, Abnormal dental enamel morphology, Coxa valga, Grayish enamel, Carious ...	ORPHA:582
Keipert Syndrome	Broad hallux phalanx, Short hallux, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypop...	ORPHA:2662
Solitary Bone Cyst	Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Pathologic fract...	ORPHA:83468
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Single transverse palmar crease, M...	OMIM:227270
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Elevated alkaline phosphatase of bone origin, Osteomalacia, Bowing of the legs, Reduced bone mine...	ORPHA:157215
Hypocalcemic Vitamin D-Resistant Rickets	Osteomalacia, Recurrent fractures, Abnormal thorax morphology, Bone cyst, Genu varum, Osteolysis,...	ORPHA:93160
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Carious teeth, Abnormal foot morphology, Rickets, Low alkaline...	OMIM:146300
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Delayed epip...	OMIM:613320
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Craniosynostosis, Split hand, Abnormal rib morpholog...	ORPHA:2145
Hypochondroplasia	Brachydactyly, Flared metaphysis, Short long bone, Short femoral neck, Malar flattening, Limited ...	OMIM:146000
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p...	OMIM:609813
Glass Syndrome	Arachnodactyly, Anterior tibial bowing, Micrognathia, Talipes equinovarus, Camptodactyly, Malar f...	OMIM:612313
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ...	OMIM:617405
Heart Defects-Limb Shortening Syndrome	Death in infancy, Mesomelic/rhizomelic limb shortening, Abnormal rib morphology, Narrow chest, Ab...	ORPHA:1354
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared m...	ORPHA:93352
Achondrogenesis	Micromelia, Micrognathia, Abnormal enchondral ossification, Short thorax, Abnormality of bone min...	ORPHA:932
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Rocker bottom foot, Micrognathia, Prenatal death, Camptodactyly, Neonatal death...	OMIM:618393
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Osteoar...	ORPHA:429
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Micromelia, Micrognathia, Elbow dislocation, Crani...	ORPHA:93329
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Hip contracture, Pes planus, Microretrognathia, Coxa valga, Micrognathia, ...	OMIM:618363
Momo Syndrome	Delayed eruption of teeth, Dental malocclusion, Femoral bowing, Large hands, Taurodontia, Short s...	ORPHA:2563
Hyperparathyroidism, Transient Neonatal	Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Undulate ribs, Thin ribs, Femora...	OMIM:618188
Cooper-Jabs Syndrome	Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Redu...	ORPHA:1488
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Tracheobronchomalacia, Narrow chest, Short phalanx of finger, Broad met...	ORPHA:56304
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Short femur, Micrognathia, Abnormal foot morphology, Osteoporosis,...	ORPHA:94068
Familial Median Cleft Of The Upper And Lower Lips	Abnormal maxilla morphology, Abnormal mandible morphology	ORPHA:401942
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs	ORPHA:66630
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Abnormal dental enamel morphology, Micr...	ORPHA:1798
Gm1-Gangliosidosis, Type Ii	Coxa valga, Joint stiffness, Splenomegaly, Hypoplastic vertebral bodies, Decreased beta-galactosi...	OMIM:230600
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Joint stiffness, Joint hyperflexibility, Acromesomelia, Sprengel anomal...	ORPHA:40
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Thin ribs, Slender long bone, Decreased calvarial ossification, A...	OMIM:618265
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys...	ORPHA:93316
Stüve-Wiedemann Syndrome	Osteopenia, Bowing of the long bones, Camptodactyly of finger, Micromelia, Recurrent fractures, T...	ORPHA:3206
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Protrusio acetabuli, Recurrent fractures, Coxa vara, Increased suscepti...	OMIM:610968
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di...	OMIM:603546
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Cryptorchidism, Talipes equin...	ORPHA:85279
Ivic Syndrome	Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad...	ORPHA:2307
Paget Disease Of Bone 5, Juvenile-Onset	Barrel-shaped chest, Short humerus, Bowing of the long bones, Osteopenia, Increased bone mineral ...	OMIM:239000
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Finger syndactyly, Increased bone mineral density, Abnormal dental enamel ...	ORPHA:2658
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Rhizomelia, Talipes, Micromelia, Abnormality of the hand, Abnormal thumb m...	ORPHA:1842
Sifrim-Hitz-Weiss Syndrome	Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short femoral neck, Short clavicles	OMIM:617159
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Long clavicles, Syndactyly, ...	ORPHA:2839
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Epiphyseal stippling, Decreased liver function	OMIM:614870
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Osteopetrosis, Autosomal Recessive 9	Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Osteopet...	OMIM:620366
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Ulnar deviation of the wrist, Elbow contracture, Pectus excavatum, 2-3 toe syndactyly...	OMIM:618162
Acrocephalopolydactyly	Genu recurvatum, Hepatosplenomegaly, Short long bone, Limb undergrowth, Thoracic hypoplasia, Brac...	ORPHA:221054
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa...	ORPHA:2098
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Pectus carinatum, Abnormal calcification of the car...	OMIM:271665
Pachydermoperiostosis	Osteomyelitis, Splenomegaly, Limitation of joint mobility, Small hand, Osteoporosis, Clubbing of ...	ORPHA:2796
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hyp...	OMIM:228520
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Split hand, Camptodactyly	OMIM:246560
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Microcephaly-Micromelia Syndrome	Micromelia, Missing ribs, Absent thumb, Absent radius, Micrognathia, Humeroradial synostosis, Cra...	OMIM:251230
Intellectual Developmental Disorder, Autosomal Recessive 69	Hyperplasia of the maxilla	OMIM:618383
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul...	OMIM:184253
Ventriculomegaly With Defects Of The Radius And Kidney	Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb	OMIM:602200
Pycnodysostosis	Abnormal clavicle morphology, Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, ...	ORPHA:763
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis, Short thorax, Abnormal epiphysis morphology, Micromelia	ORPHA:93283
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Elevated circulating alkaline phosphatase concentration, Paget disease of bone	OMIM:615422
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t...	ORPHA:2496
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi...	ORPHA:1307
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Hip dislocation, Thin ribs, Kne...	OMIM:618395
Achondroplasia	Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Wide a...	ORPHA:15
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal morphology of ulna, Decreased fertility, Hypogonadism, Abnormal metacarpal morphology, A...	ORPHA:2233
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Tarsal synostosis, Aplastic clavicle, Micrognathia, Abnormal dental...	ORPHA:85199
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flattened epiphysis, Short femoral ne...	ORPHA:157965
Fibrochondrogenesis 2	Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti...	OMIM:614524
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Joint laxity, Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformi...	OMIM:253010
Holt-Oram Syndrome	Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc...	ORPHA:392
Coxopodopatellar Syndrome	Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog...	ORPHA:1509
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Crumpled long bones, Death in infancy, Rhizomelia, Protrusio ...	OMIM:610682
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Scapular winging, Elevated alkaline phosphatase of bone origin, Abnormal pelvic girdle bone morph...	OMIM:167320
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C...	ORPHA:2636
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Campomelia, Cumming Type	Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Abnormal t...	ORPHA:1318
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga...	ORPHA:1240
Oculodentodigital Dysplasia	Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Clinodactyly of the 5th finger...	ORPHA:2710
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Micromelia, Bowing of the legs, Micrognathia, Metaphyseal widening, C...	OMIM:255800
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Short long bone, Stillbirth, Camptodactyly, Neonatal death	OMIM:619751
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Fle...	ORPHA:666
Osteoglophonic Dysplasia	Osteopenia, Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,...	OMIM:166250
Boudin-Mortier Syndrome	Long toe, Mallet finger, Joint laxity, Pes planus, Arachnodactyly, Elevated alkaline phosphatase ...	OMIM:619543
Raine Syndrome	Mandibular prognathia, Natal tooth, Bowing of the long bones, Increased bone mineral density, Dea...	OMIM:259775
Femoral-Facial Syndrome	Short femur, Micrognathia, Rib fusion, Abnormal rib morphology, Coxa vara, Abnormal fibula morpho...	ORPHA:1988
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Abnormal vertebral epiphysis morphology, Abnormal epiphysis morphology	ORPHA:90653
Ulnar-Mammary Syndrome	Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ...	OMIM:181450
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva...	ORPHA:2772
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Low alkaline phosphatase, Brachydactyly	OMIM:618879
Recon Progeroid Syndrome	Prominence of the premaxilla, Arachnodactyly, Proximal placement of thumb, Delayed eruption of pe...	OMIM:620370
Osteoporosis-Pseudoglioma Syndrome	Barrel-shaped chest, Osteopenia, Recurrent fractures, Metaphyseal widening, Osteoporosis, Tibial ...	OMIM:259770
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Reduced bone mineral density, Neutropenia, Hypoplasia of the ulna, A...	ORPHA:2909
3Mc Syndrome 2	Prominence of the premaxilla, Limited elbow movement, Cryptorchidism, Hip dislocation, Radioulnar...	OMIM:265050
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f...	ORPHA:363417
Acromicric Dysplasia	Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Short palm, Fifth metacarpa...	OMIM:102370
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Increased iduronate sulfat...	OMIM:252600
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Aplastic clavicle, Micrognathia, Elbow dislocation, Craniosynostosis, Hy...	ORPHA:2554
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Osteolysis, Increased susceptibility to fractures, Abnormal long bone morphology, Elevated circul...	ORPHA:52430
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Joint stiffness, Metatarsus ad...	ORPHA:2249
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Micrognathia, Abnormality of alkaline phosphatase level, Delayed eruption of permanent teeth, Sho...	OMIM:619356
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Bilateral coxa ...	ORPHA:439822
Diastrophic Dysplasia	Hip contracture, Flattened epiphysis, Genu valgum, Ulnar deviation of finger, Irregular epiphyses...	OMIM:222600
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Ulnar deviation...	ORPHA:1529
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Bi...	OMIM:609465
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
20P12.3 Microdeletion Syndrome	Hypoplasia of the maxilla, Broad hallux phalanx, Malar flattening, Broad thumb	ORPHA:261295
Floating-Harbor Syndrome	11 pairs of ribs, Joint laxity, Brachydactyly, Ivory epiphyses of the distal phalanges of the han...	OMIM:136140
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Fl...	ORPHA:1865
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,...	OMIM:602196
Spondylometaphyseal Dysplasia, Kozlowski Type	Irregular, rachitic-like metaphyses, Hypoplasia of the odontoid process, Abnormal foot morphology...	OMIM:184252
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol...	ORPHA:2167
Weill-Marchesani Syndrome 1	Thin bony cortex, Joint stiffness, Hypoplasia of the maxilla, Broad palm, Broad phalanges of the ...	OMIM:277600
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Supernumerary tooth, Aplasia of ...	OMIM:617088
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Joint laxity, Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformi...	OMIM:253000
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus...	OMIM:166260
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness, ...	ORPHA:83
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Multiple rib fractures, Death in infancy, Femur fracture, Sp...	OMIM:612301
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Cupped...	OMIM:250420
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia...	OMIM:113000
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Prominence of the premaxilla, Wide anterior fontanel, Hepatic fail...	OMIM:614886
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Carious teeth, Generalized ost...	ORPHA:53
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology, Abnormal epiphysis morphology, Neutropenia, Enamel hypoplasia, Brachydac...	ORPHA:2643
Frank-Ter Haar Syndrome	Osteopenia, Bowing of the long bones, Cortical irregularity, Micrognathia, Pectus excavatum, Meta...	OMIM:249420
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Meta...	OMIM:182212
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Abnormal clavicle morphology, Overlapping fingers, Overlapping toe, Mi...	ORPHA:798
Rothmund-Thomson Syndrome Type 2	Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Short phalanx of finger, Genu varu...	ORPHA:221016
Maxillonasal Dysplasia	Mandibular prognathia, Hypoplasia of the maxilla, Short distal phalanx of finger, Aplasia/Hypopla...	ORPHA:1248
Faciocardiomelic Syndrome	Osteopenia, Micrognathia, Dental malocclusion, Slender long bone, Polydactyly, Narrow chest, Hypo...	OMIM:612731
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla	OMIM:137550
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Delayed eruption of teeth, Apl...	ORPHA:221008
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Short distal phalanx of finger	OMIM:300266
Juvenile Paget Disease	Abnormal clavicle morphology, Bowing of the long bones, Recurrent fractures, Cranial hyperostosis...	ORPHA:2801
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serration, Rhizome...	ORPHA:239
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Small hand, Abnormal rib morphology, Spina bifida occulta, Short foot, Retrognathia, ...	ORPHA:488434
3M Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, ...	ORPHA:2616
Frontometaphyseal Dysplasia 1	Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo...	OMIM:305620
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Micromelia, Dumbbell-shaped long bone, Lateral ...	ORPHA:3144
Dysspondyloenchondromatosis	Lower limb asymmetry, Osteoarthritis, Generalized joint laxity, Abnormal fibula morphology, Genu ...	ORPHA:85198
Chime Syndrome	Aplastic clavicle, Supernumerary tooth, Aplasia/Hypoplasia of the phalanges of the hand, Hip disl...	ORPHA:3474
Smith-Mccort Dysplasia 1	Barrel-shaped chest, Short metacarpal, Hypoplastic scapulae, Iliac crest serration, Multicentric ...	OMIM:607326
Pseudoleprechaunism Syndrome, Patterson Type	Abnormal limb epiphysis morphology, Metaphyseal sclerosis, Flat acetabular roof, Genu valgum, Abn...	ORPHA:2976
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79303
Cardioacrofacial Dysplasia 1	Limb undergrowth, Hypoplasia of the maxilla, Postaxial polydactyly, Genu valgum	OMIM:619142
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol...	ORPHA:85166
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Crypto...	ORPHA:2256
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Anterior rib cupping, Splenomegaly, Proximal femoral metaphyseal irregularity, Coxa v...	OMIM:602271
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short thorax, ...	OMIM:617102
Diaphanospondylodysostosis	Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax, Absent or minimally ossified ver...	ORPHA:66637
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Abnormality of the lowe...	ORPHA:245
Progressive Pseudorheumatoid Dysplasia	Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, En...	OMIM:208230
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Dentinogenesis imperfecta, Hip dislocation, Ost...	OMIM:616507
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Osteomalacia, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Microg...	ORPHA:1901
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl...	OMIM:615633
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Increased susceptibility to fractures, Recurrent fractures, Femoral bowing	OMIM:615066
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m...	ORPHA:1422
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Mandibular prognathia, Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Met...	OMIM:271510
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp...	OMIM:614856
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Femoral bowing, Pectus carinatum, Inc...	OMIM:609220
Laron Syndrome	Limb undergrowth, Short long bone, Delayed menarche	OMIM:262500
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Barrel-shaped chest, Mandibular prognathia, Joint laxity, Rhizomelia, Metaphyseal widening, Irreg...	OMIM:612813
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocation, Short lon...	OMIM:620269
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic notch, Short p...	OMIM:250220
Mandibuloacral Dysplasia With Type B Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Abnormal fingertip morphology, Micrognathia, Osteolysis, Ost...	ORPHA:90154
Hutchinson-Gilford Progeria Syndrome	Delayed eruption of teeth, Limitation of movement at ankles, Coxa valga, Limited wrist movement, ...	ORPHA:740
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia,...	ORPHA:1652
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Anterior rib cupping, Hypoplasia of the odontoid process, Metaphyseal widening, Flexion contractu...	OMIM:300232
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flat glenoid fos...	OMIM:224690
Fanconi-Bickel Syndrome	Osteopenia, Bowing of the long bones, Elevated circulating aspartate aminotransferase concentrati...	ORPHA:2088
Anauxetic Dysplasia 3	Short metacarpal, Thoracolumbar kyphoscoliosis, Joint hypermobility, Pectus excavatum, Hip sublux...	OMIM:618853
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Limited elbow extension, Short metatarsal, Small hand, Short foot, ...	OMIM:180870
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick...	ORPHA:1328
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Clino...	OMIM:201000
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasi...	ORPHA:3082
Mosaic Trisomy 14	Camptodactyly of finger, Micrognathia, Lower limb asymmetry, Abnormal rib morphology, Narrow ches...	ORPHA:1703
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Congenital hip dislocation, Limited elbow movement, Broad palm, Joint contracture ...	OMIM:300280
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Elevated circulating alkaline phosphatase concentration, Osteoporosis	ORPHA:529665
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic...	ORPHA:3258
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph...	ORPHA:2502
Aarskog-Scott Syndrome	Delayed eruption of teeth, Finger syndactyly, Pes planus, Genu recurvatum, Camptodactyly of finge...	ORPHA:915
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O...	ORPHA:98850
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger...	ORPHA:435638
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Abnormal rib m...	ORPHA:2021
Frontonasal Dysplasia 1	Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic frontal sinuses, Pectoral musc...	OMIM:136760
Marshall-Smith Syndrome	Hallux valgus, Microretrognathia, Prominence of the premaxilla, Bullet-shaped middle phalanges of...	OMIM:602535
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d...	ORPHA:968
C Syndrome	Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, P...	OMIM:211750
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Micrognathia, Pectus excavatum, Malar prominence, Abnormal rib morp...	ORPHA:2522
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Long palm, Single transverse palm...	OMIM:309583
Osteoglosphonic Dysplasia	Abnormal clavicle morphology, Rhizomelia, Craniosynostosis, Micrognathia, Multiple unerupted teet...	ORPHA:2645
Andersen Cardiodysrhythmic Periodic Paralysis	Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Short...	OMIM:170390
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Sclerotic scapulae, Broad clavicles, Malar flattening, 2-3 fin...	OMIM:269500
Shwachman-Diamond Syndrome 1	Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Anterior rib cupping, Metaph...	OMIM:260400
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Macroorchidism,...	ORPHA:776
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Immunoerythromyeloid Hypoplasia	Absent leukocyte alkaline phosphatase	OMIM:242880
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Pectus carinatum, Barrel-shaped chest, ...	OMIM:271700
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fract...	OMIM:259710
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e...	ORPHA:93284
Shprintzen-Goldberg Syndrome	Osteopenia, Pes planus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Cranio...	ORPHA:2462
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Pes planus, Short fourth metatarsal, Short fifth metatarsal, Single transv...	OMIM:619841
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Secondary amenorrhea, Brachydactyly, Lower limb undergrowth, Bowing of the legs	OMIM:612847
Gracile Bone Dysplasia	Death in infancy, Asplenia, Flared metaphysis, Thin ribs, Slender long bone, Hypoplastic spleen, ...	OMIM:602361
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m...	ORPHA:2319
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Limitation of joint mobility, Abnormal rib morphology, Pectus carinatu...	ORPHA:3068
Kagami-Ogata Syndrome	Long clavicles, Coxa valga, Micrognathia, Long fingers, Hypoplasia of the maxilla, Flexion contra...	OMIM:608149
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora...	ORPHA:457395
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm...	OMIM:216340
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Cohen Syndrome	Pes planus, Short metacarpal, Thoracic scoliosis, Single transverse palmar crease, Tapered finger...	OMIM:216550
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Hallux valgus, Micrognathia, Long hallux, Clinodactyly, Broad thumb, Hyperplasia of the maxilla	OMIM:620194
Neutrophilia, Hereditary	Elevated leukocyte alkaline phosphatase	OMIM:162830
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook, Jaundice, Early ossification of ...	OMIM:208500
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Pectus carinatum, Reduce...	ORPHA:2911
Focal Dermal Hypoplasia	Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifid...	OMIM:305600
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short hallux, Campto...	ORPHA:90652
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Malar flattening, Brachydactyly, Abnormal metacarpal morphology	ORPHA:93262
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Thenar muscle atrophy...	ORPHA:2463
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal...	OMIM:163400
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ...	ORPHA:2050
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi...	ORPHA:1788
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Recurrent fractures, Pectus excavatum, Thin ribs, Lambdoidal crani...	OMIM:616294
Weill-Marchesani Syndrome 2	Short metacarpal, Thin bony cortex, Joint stiffness, Hypoplasia of the maxilla, Short metatarsal,...	OMIM:608328
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact...	OMIM:602418
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Smith-Mccort Dysplasia 2	Mandibular prognathia, Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femor...	OMIM:615222
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Short-Rib Thoracic Dysplasia 12	Natal tooth, Hypoplastic scapulae, Bowing of the legs, Splenomegaly, Short toe, Short thorax, Bro...	OMIM:269860
White Forelock With Malformations	Finger syndactyly, Abnormal rib morphology, Joint hyperflexibility, Clinodactyly of the 5th finge...	ORPHA:2475
Mohr Syndrome	Syndactyly, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Postaxial hand po...	OMIM:252100
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Epiphyseal dysplasia, Pes planus, Hypoplasia of the femoral head, Long finge...	OMIM:610797
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Decreased...	OMIM:616829
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Wide anterior fontanel, Abno...	ORPHA:1860
Meier-Gorlin Syndrome 4	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Patellar aplasia, Slend...	OMIM:613804
Martsolf Syndrome 1	Pes planus, Short metacarpal, Hypogonadotropic hypogonadism, Micrognathia, Metatarsus adductus, S...	OMIM:212720
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Aplasia/Hypoplasia of the patella, Micrognathia, ...	OMIM:613803
Becker Nevus Syndrome	Micromelia, Lower limb asymmetry, Pectus excavatum, Abnormal tibia morphology, Rib fusion, Upper ...	ORPHA:64755
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Micrognathia, Carious teeth, Hypoplastic pubic bone, Flared metaphysis, Short long bone, Small ep...	ORPHA:93346
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal pelvic gi...	ORPHA:3429
Floating-Harbor Syndrome	11 pairs of ribs, Short metacarpal, Brachydactyly, Persistence of primary teeth, Avascular necros...	ORPHA:2044
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Abnormal thorax morphology, Talipes equinovalgus, Hip dislocation, Meso...	OMIM:605274
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Chronic neutropenia, Long foot, Abnormal thumb morphology, Metatarsus addu...	ORPHA:500095
Meier-Gorlin Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Irregular femoral epiphysis, Patellar...	OMIM:613805
Prader-Willi Syndrome Due To Imprinting Mutation	Hypogonadotropic hypogonadism, Narrow palm, Small hand, Short foot, Abnormal ulnar metaphysis mor...	ORPHA:177910
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Recurrent patellar dislocation, Postaxial hand polydactyly, Clubbing, Genu...	OMIM:619143
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Craniosynostosis, Ulnar bowing, Humeroradi...	OMIM:201750
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bo...	OMIM:112250
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Postaxial polydactyly, Micrognathia, Lateral clavicle hook, Wide anterior fontanel, ...	OMIM:617925
Mandibuloacral Dysplasia With Type A Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Flexion contracture, Limitation of joint mobility, Osteolysi...	ORPHA:90153
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Squared...	OMIM:616300
Renpenning Syndrome	Mandibular prognathia, Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abnormal rib...	ORPHA:3242
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Craniosynostosis, Femoral...	OMIM:616723
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia,...	ORPHA:163966
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Joint laxity, Scapular winging, Pes planus, Single transverse palmar crease, M...	OMIM:618870
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Micrognathia, Wide anterior fontanel, Short toe, Recurrent mandibular s...	OMIM:225410
Pallister-Hall-Like Syndrome	Death in infancy, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislo...	OMIM:241800
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str...	ORPHA:93357
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Hypoplasia of the maxilla, Femoral bowing, Flared lower limb metaphysis, Acetabular...	OMIM:616462
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thin bony cortex, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull b...	OMIM:619727
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi...	OMIM:601356
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Lateral clavicle hook, Hypopl...	OMIM:617895
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Malar flattening, Hip dislocation, Coxa valga	OMIM:109120
Craniofrontonasal Syndrome	Joint laxity, Toe syndactyly, Broad hallux, Down-sloping shoulders, Pectus excavatum, Coronal cra...	OMIM:304110
Bile Acid Conjugation Defect 1	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	OMIM:619232
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Broad long bones, Fifth finger distal phalanx clinodactyly, Micrognath...	OMIM:257850
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Abnormal epiphysis...	ORPHA:2107
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormal distal phalanx morphology of finger, Hypoplasia of the premaxilla...	ORPHA:2673
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Small for gestational age, Sandal gap, Hypoplasia of the ...	OMIM:607143
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Rhizomelia, Single transverse palmar crease, Micrognathia, Thromb...	OMIM:611209
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Barrel-shaped chest, Mandibular prognathia, Joint laxity, Rhizomelia, Mesomelia, Broad thumb, Bra...	ORPHA:171866
Mulibrey Nanism	Single transverse palmar crease, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malo...	OMIM:253250
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Micrognathia, Cryptorchidism, Short long bone, Talipes equi...	OMIM:224410
Brachytelephalangic Chondrodysplasia Punctata	Abnormal circulating enzyme concentration or activity, Calcaneal epiphyseal stippling, Hypoplasia...	ORPHA:79345
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy	Elevated circulating alkaline phosphatase concentration	OMIM:616917
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Short metacarpal, Brachydactyly, Hypoplasia of ...	OMIM:101800
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Low neutrophil al...	OMIM:245480
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepip...	ORPHA:192
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Rickets, ...	OMIM:616026
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costoch...	OMIM:187600
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Capitate-hamate fusion, Postaxial hand polydactyly, Pectu...	OMIM:225500
Spondyloocular Syndrome	Long toe, Osteopenia, Pes planus, Femur fracture, Arachnodactyly, Overlapping toe, Long fingers, ...	OMIM:605822
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Hyperplasia of the maxilla	OMIM:618587
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb morphology, Short thorax, Small hand,...	ORPHA:1597
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Wide anterior f...	OMIM:201170
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Pes planus, Recurrent fractures, Abnormal pe...	OMIM:610967
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Coxa vara, Pectus carinatum, Wrist flexion contracture, Death in infanc...	ORPHA:800
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Tapered finger, Short toe, Elevated circulating alkaline phosphatase conce...	OMIM:239300
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Micrognathia, Missing ribs, Abnormal rib morphology, Aplasia/Hypop...	ORPHA:3301
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Thoracolumbar kyphosis, T lymphocytopenia, Narrow greater s...	ORPHA:508533
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Death in infancy, Pancytopenia, Postaxial polydactyly, Splenomegal...	OMIM:614576
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus	Hyperplasia of the maxilla	OMIM:613671
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Hip dislocation, Neutropenia, Limb undergrowth, Joint contracture, Retrognathia	OMIM:618005
Atelosteogenesis Type Iii	Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi...	ORPHA:56305
Thanatophoric Dysplasia	Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Short thorax, Joint hyperflexi...	ORPHA:2655
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph...	ORPHA:2928
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology	ORPHA:1506
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger...	OMIM:260660
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Peroxisome Biogenesis Disorder 5A (Zellweger)	Death in infancy, Increased circulating lactate dehydrogenase concentration, Single transverse pa...	OMIM:614866
Infantile Systemic Hyalinosis	Osteopenia, Camptodactyly of finger, Micromelia, Osteomalacia, Recurrent fractures, Joint stiffne...	ORPHA:2176
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Abnormality of the elbo...	ORPHA:3121
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Micromelia, Genu valgum, Joint hyperflexibility	ORPHA:1035
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulating alkaline phosphatas...	OMIM:619484
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Recurrent fractures, Femoral bowing, Increased susceptibility to fractu...	OMIM:166200
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Recurrent fractures, Increased susceptibility to fractures, Reduced bone mineral de...	OMIM:166220
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Developmental And Speech Delay Due To Sox5 Deficiency	2-3 toe syndactyly, Hyperplasia of the maxilla	ORPHA:313892
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Osteoporosis, Deep plantar cre...	ORPHA:1517
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Foot oligodactyly, Amelia	OMIM:601357
Juvenile Polyposis Of Infancy	Refractory anemia, Clubbing of fingers, Midclavicular hypoplasia, Broad thumb, Anemia, Broad phal...	ORPHA:79076
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Hypoplasia of the maxil...	ORPHA:178303
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Pallister-Hall Syndrome	Microretrognathia, Mesoaxial polydactyly, Radial bowing, Rib fusion, Polydactyly affecting the 4t...	ORPHA:672
Vascular Malformation, Primary Intraosseous	Elevated circulating alkaline phosphatase concentration, Ectopic tooth eruption, Supraumbilical r...	OMIM:606893
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated circulating alanine a...	OMIM:619658
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Decreased testicular size	ORPHA:93950
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Large tarsal bones, Micrognathia, Flared metaphysis, Prominent interphalang...	OMIM:215150
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Short ribs, Sprengel a...	OMIM:173800
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Pes planus, Single transverse palmar crease,...	OMIM:305400
Cartilage-Hair Hypoplasia	Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Neutropenia, Short palm, Joint lax...	OMIM:250250
Aspartylglucosaminuria	Mandibular prognathia, Pes planus, Abnormal morphology of ulna, Joint stiffness, Carious teeth, S...	ORPHA:93
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ...	OMIM:614091
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, Ma...	ORPHA:2180
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia	OMIM:112310
Acheiropody	Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab...	OMIM:200500
Fanconi Renotubular Syndrome 1	Elevated circulating alkaline phosphatase concentration, Rickets, Osteomalacia	OMIM:134600
Aicardi Syndrome	Prominence of the premaxilla, Hip dysplasia, Small hand	ORPHA:50
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Pectus exc...	ORPHA:2215
Phaver Syndrome	Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol...	ORPHA:2876
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Bowi...	ORPHA:1855
Nail-Patella Syndrome	Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, R...	ORPHA:2614
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, Long foot, Long palm	OMIM:300676
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Lathosterolosis	Elevated hepatic transaminase, Toe syndactyly, Increased mean platelet volume, Micrognathia, Acan...	OMIM:607330
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, Long fingers, 2-3 toe syndactyly, Tapered finger	OMIM:218000
Kinsship Syndrome	Osteopenia, Mandibular prognathia, Death in infancy, Pes planus, Single transverse palmar crease,...	OMIM:619297
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Sinusitis, Joint stiffness, Splenomegaly, Genu valgum, Broad ribs, Abnormal...	ORPHA:583
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Splen...	ORPHA:667
Cystic Echinococcosis	Elevated hepatic transaminase, Jaundice, Bone cyst, Weight loss, Elevated circulating alkaline ph...	ORPHA:400
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline ...	OMIM:235555
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, El...	ORPHA:2538
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Micromelia, Hepatosplenomegaly	OMIM:273680
Estrogen Resistance Syndrome	Osteopenia, Delayed epiphyseal ossification, Osteoporosis, Elevated tissue non-specific alkaline ...	ORPHA:785
Gm1 Gangliosidosis	Mandibular prognathia, Camptodactyly of finger, Joint stiffness, Splenomegaly, Hepatosplenomegaly...	ORPHA:354
Isolated Klippel-Feil Syndrome	Abnormal rib morphology, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Sprengel ...	ORPHA:2345
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Microretrognathia	ORPHA:228396
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Craniosynostosis, Micrognathia, Pectus excavatum, Upper limb undergrowth, Low alkalin...	ORPHA:369837
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl...	OMIM:613091
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Gorlin-Chaudhry-Moss Syndrome	Hypoplasia of the maxilla, Abnormal foot morphology, Abnormal metacarpal morphology, Coronal cran...	ORPHA:2095
Thanatophoric Dysplasia Type 2	Micromelia, Short thorax, Limitation of joint mobility, Joint hyperflexibility, Narrow chest, Abn...	ORPHA:93274
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Pes planus	OMIM:618302
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Carious teeth, Abnormal maxilla mor...	ORPHA:2791
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Elevated hepatic transaminase, Accessory spleen, Severe B lymphocytopenia, Cran...	OMIM:620005
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Micrognathia, Hypoplasia of the ma...	ORPHA:193
Three M Syndrome 2	Delayed eruption of teeth, Scapular winging, Short thorax, Dental malocclusion, Thin ribs, Pectus...	OMIM:612921
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi...	OMIM:210710
Developmental And Epileptic Encephalopathy 95	Joint laxity, Short fourth metatarsal, Brachydactyly, Multiple joint contractures, Single transve...	OMIM:618143
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Hypoplasia of t...	ORPHA:2588
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Left unicoronal synostosis, Elevated circulating alkaline phosphatase concentration, Broad hallux...	OMIM:614749
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Arachnodactyly, Long palm, Missing ribs, Abnormal rib morphology, Joint hyperflexibility, Clinoda...	ORPHA:2759
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Pes planus, Hypoplasia of the maxilla, Carious teeth, High iliac wing,...	ORPHA:50814
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Micrognathia, Wide anterior fontanel, Metaphyseal widening, Short lo...	OMIM:263210
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Mi...	ORPHA:958
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Overlapping fingers, Stiff neck, Micrognathia, Femoral bowing, Short long bon...	OMIM:617022
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Micromelia, Postaxial polydactyly, Preaxial polydactyly, Short ribs, Narrow chest	OMIM:616546
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short metacarpal, Single interphalangeal crease of fifth finger, Malar flattening, Hypoplastic il...	OMIM:611717
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Decreased testicular size, Micrognathia, Hypoplasia of the maxilla, Crypto...	OMIM:300534
Microcephaly-Capillary Malformation Syndrome	Hypoplasia of the maxilla, Clinodactyly, Brachydactyly, Short distal phalanx of finger	OMIM:614261
Myeloproliferative Disease, Autosomal Recessive	Reduced leukocyte alkaline phosphatase	OMIM:254700
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Limited elbow movement, Micrognathia, Joint stiffness, Flexion contracture, Os...	OMIM:614008
Mandibulofacial Dysostosis-Microcephaly Syndrome	Hypoplasia of the maxilla, Preaxial hand polydactyly, Malar flattening, Micrognathia	ORPHA:79113
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Thoracic kyphoscoliosis, Broad hallux, Arachnodactyly, Hypoplasia of the maxilla, Flexion contrac...	ORPHA:481152
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the maxilla	OMIM:167730
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Femoral bowing, Narrow chest, Abnormality of the wrist, Elbow ankylosis, Sho...	ORPHA:95699
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Failure t...	OMIM:613489
Fanconi-Bickel Syndrome	Elevated circulating aspartate aminotransferase concentration, Osteomalacia, Intrahepatic cholest...	OMIM:227810
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Elevated circulating alkaline phosphatase concentration, Shortening of all distal phalanges of th...	OMIM:615716
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Large for gestational age, Increased body weight, Elevated circula...	ORPHA:263455
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Neutrophilia, Abscess, Splenomegaly, Periostitis, Osteolysis, Fused ce...	OMIM:612852
Cat-Eye Syndrome	Hip dysplasia, Abnormal rib morphology	ORPHA:195
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Bowed humerus, Tarsa...	OMIM:272460
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Short thorax, Micrognathia	OMIM:601809
Hypertrichosis Cubiti	Joint hyperflexibility, Abnormality of the elbow, Rhizomelia, Micromelia	ORPHA:2220
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Elevated circulating alkaline phosphatase concentration	OMIM:174050
Alpha-Mannosidosis, Infantile Form	Osteopenia, Abnormal circulating enzyme concentration or activity, Mandibular prognathia, Thicken...	ORPHA:309282
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Micrognathia, Partial duplication of thumb phalanx, Dental malocclusion, Partial d...	OMIM:616331
Image Syndrome	Metaphyseal dysplasia, Micromelia	ORPHA:85173
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Cupped r...	ORPHA:1145
Short Stature-Micrognathia Syndrome	Rhizomelia, Coxa valga, Bowing of the legs, Micrognathia, Metaphyseal widening, Cryptorchidism, 2...	OMIM:617164
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Elevated hepatic transaminase, Sandal gap, Elevated hemoglobin A1c, Decreased fibular...	OMIM:619127
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Short distal phalanx of the thumb, Vertebral fusion, Down-sloping shoulder...	OMIM:109400
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Malar flattening, Coronal craniosynostosis, Micrognathia	OMIM:241310
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Developmental And Epileptic Encephalopathy 80	Death in infancy, Micrognathia, Tapered finger, Elevated circulating alkaline phosphatase concent...	OMIM:618580
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Micrognathia, Flexion contracture, Talipes calcaneovalgus, Knee flex...	OMIM:265000
Lowry-Maclean Syndrome	Osteopenia, Single transverse palmar crease, Craniosynostosis, Micrognathia, Hypoplasia of the ma...	ORPHA:2409
Aspergillosis	Sinusitis, Osteomyelitis, Eosinophilia, Abnormal rib morphology, Hepatitis, Abnormal long bone mo...	ORPHA:1163
Dpm1-Cdg	Elevated hepatic transaminase, Sandal gap, Micrognathia, Knee flexion contracture, Hepatosplenome...	ORPHA:79322
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Syndactyly, Hyperextensibility of the finger joints, Joint laxity, Broad c...	OMIM:151050
Paget Disease Of Bone 6	Elevated circulating alkaline phosphatase concentration, Osteoarthritis, Recurrent fractures	OMIM:616833
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Mccune-Albright Syndrome	Pancytopenia, Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Dental malocclus...	ORPHA:562
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Craniosynostosi...	ORPHA:794
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Arachnodactyly, Micrognathia	OMIM:614437
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia...	ORPHA:40366
Cerebrocostomandibular Syndrome	Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ...	OMIM:117650
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta	OMIM:601216
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Death in infancy, Abnormal mor...	ORPHA:570
Cerebrofacioarticular Syndrome	Osteopenia, Syndactyly, Micrognathia, Hypoplasia of the maxilla, Talipes equinovarus, Camptodacty...	ORPHA:314679
Xq12-Q13.3 Duplication Syndrome	Pectus excavatum, Low alkaline phosphatase, Cutaneous finger syndactyly, 2-3 toe syndactyly	ORPHA:314389
Cholesteryl Ester Storage Disease	Acute hepatic failure, Death in infancy, Elevated circulating aspartate aminotransferase concentr...	OMIM:278000
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Micrognathia, Flexion contracture, Thin ribs, Increased susceptibility to fract...	OMIM:312150
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,...	ORPHA:251014
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Narrow chest	ORPHA:1861
Skraban-Deardorff Syndrome	Hyperplasia of the maxilla, Pes cavus, Micrognathia	OMIM:617616
Aicardi Syndrome	Prominence of the premaxilla, Proximal placement of thumb	OMIM:304050
Glycosylphosphatidylinositol Biosynthesis Defect 25	Low alkaline phosphatase, Ankle flexion contracture, Death in childhood	OMIM:619985
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Mandibular prognathia, Pectus excavatum, Osteoporosis, 2-3 toe synda...	ORPHA:488632
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration	OMIM:214900
Graft Versus Host Disease	Elevated hepatic transaminase, Dupuytren contracture, Limited elbow movement, Trismus, Jaundice, ...	ORPHA:39812
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Broad long bones, Abnormal metatarsal morphology, Cryptorchidism, Rhizo-meso-acromelic limb short...	ORPHA:163654
Ehlers-Danlos Syndrome, Classic Type, 1	Pes planus, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Recurrent si...	OMIM:130000
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Elevated circulating alkaline phos...	ORPHA:263501
Osteopathia Striata With Cranial Sclerosis	Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, Clinodactyly of the 5th finger, B...	OMIM:300373
Trichohepatoneurodevelopmental Syndrome	Joint laxity, Overlapping toe, Pectus excavatum, Splenomegaly, Hip dislocation, Absent Achilles r...	OMIM:618268
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial h...	ORPHA:1120
Marshall Syndrome	Micrognathia, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Genu valgum, Hypoplasia of ...	ORPHA:560
Distal Xq28 Microduplication Syndrome	Metatarsus adductus, Hypoplasia of the maxilla, Clinodactyly	ORPHA:293939
Split Lower Lip	Narrow maxilla	OMIM:183400
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperextensibility of the finger joints, Arachnodactyly, Micrognathia, Hypoplasia of the maxilla,...	OMIM:309520
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Epiphyseal dysplasia, Reduced leukocyte arylsulfatase B activity, Cari...	OMIM:253200
Congenital Heart Defects And Skeletal Malformations Syndrome	Pes planus, Arachnodactyly, Sandal gap, Carious teeth, Cryptorchidism, Camptodactyly, Clinodactyl...	OMIM:617602
Amyotrophic Lateral Sclerosis 20	Elevated circulating alkaline phosphatase concentration	OMIM:615426
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:93945
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Micrognathia, Flexion contracture, Thin ribs, Increased susceptibility to fract...	OMIM:253290
Radio-Renal Syndrome	Micromelia, Micrognathia, Hypoplasia of the radius, Abnormal rib morphology, Abnormality of the e...	ORPHA:3015
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Rickets	OMIM:211600
Autosomal Dominant Spondylocostal Dysostosis	Missing ribs, Short thorax, Abnormal rib morphology, Posterior rib fusion, Spina bifida occulta	ORPHA:1797
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Jaundice, Splenome...	OMIM:607765
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Pectus excavatum, Reduced bone mineral density, Long fibula, Abnormal metaphysis morphology, Lymp...	ORPHA:935
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Death in childhood, Death in adolescence, Osteoporosis, Rickets	OMIM:560000
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla	OMIM:618737
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Malar flattening, Retrognathia	OMIM:620157
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi...	ORPHA:93317
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Micromelia, Micrognathia, Trismus, Flexion contracture, Osteoporosis, R...	ORPHA:2671
Hypercholanemia, Familial 1	Rickets	OMIM:607748
Mosaic Trisomy 8	Camptodactyly of finger, Micrognathia, Patellar aplasia, Abnormal rib morphology, Limitation of j...	ORPHA:96061
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Metatarsus adductus, Short toe, 4-5 toe syndactyly, 2-3 ...	ORPHA:3041
Desmosterolosis	Increased bone mineral density, Talipes, Micromelia, Micrognathia, Metatarsus adductus, Splenomeg...	ORPHA:35107
Hyperphosphatasia-Intellectual Disability Syndrome	Mandibular prognathia, Micrognathia, Pectus excavatum, Shortening of all distal phalanges of the ...	ORPHA:247262
Restrictive Dermopathy	Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Natal tooth, Multiple j...	ORPHA:1662
Bile Acid Synthesis Defect, Congenital, 3	Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice...	OMIM:613812
Cog1-Cdg	Osteopenia, Rhizomelia, Coxa valga, Micrognathia, Rib fusion, Posterior rib gap, Flat acetabular ...	ORPHA:263508
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Joint laxity, Overlapping toe, Single transverse palmar crease, Pectus excavatum, Flexi...	ORPHA:254528
Glutamine Deficiency, Congenital	Neonatal death, Flexion contracture, Micromelia, Camptodactyly	OMIM:610015
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Short long bone, Talipes equinovarus	OMIM:618845
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Camptodactyly of finger, Short thorax, Rib fus...	ORPHA:2311
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S...	OMIM:615503
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Pes planus, Elevated circulating aspartate aminotransferase concen...	OMIM:619525
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Missing ribs, Micrognathia, Split h...	OMIM:200980
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Vertebral fusion, Pes planus, Overlapping toe, Craniosyn...	OMIM:213980
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Distal clavicular thinning, Micromelia, Bell-shaped thorax, Narrow chest, Short...	OMIM:600092
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulder flexion contracture,...	OMIM:620369
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Failure to thr...	OMIM:601847
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume	OMIM:611590
Trisomy 1Q	Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydac...	ORPHA:261344
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Intrahe...	OMIM:617093
Estrogen Resistance	Osteopenia, Elevated alkaline phosphatase of bone origin	OMIM:615363
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Thickened cortex of long bones, Anemia, Abnormality of the medull...	OMIM:127000
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Coxa vara, Narrow pelvis bone, Joint hyperflexibility, Abnormal epiphysis morphology,...	ORPHA:2637
Hallermann-Streiff Syndrome	Natal tooth, Abnormality of the hand, Micrognathia, Pectus excavatum, Metaphyseal widening, Super...	OMIM:234100
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, Short distal phalanx of finge...	ORPHA:1784
Slc39A8-Cdg	Osteopenia, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Cutaneous synd...	ORPHA:468699
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia	ORPHA:79107
Opsismodysplasia	Short metacarpal, Rhizomelia, Anterior rib cupping, Hypoplasia of the odontoid process, Squared i...	OMIM:258480
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Joint stiffness, Split hand, Abnormal rib morpho...	ORPHA:1300
Trisomy 13	Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morphology, Ectr...	ORPHA:3378
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of the premaxilla, Talipes, Micrognathia, Cryptorchidism, Postaxial hand polydactyly	ORPHA:2166
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Thickened ribs, Dense calvaria, Joint stiffness	OMIM:252920
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets, Rachitic rosary	OMIM:612089
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Elevated circulating alkaline phosphatase concentration	OMIM:615424
Hurler Syndrome	Abnormal clavicle morphology, Death in infancy, Camptodactyly of finger, Splenomegaly, Abnormalit...	ORPHA:93473
Singleton-Merten Syndrome 1	Osteopenia, Pes cavus, Hypoplastic distal radial epiphyses, Coxa valga, Hypoplasia of the maxilla...	OMIM:182250
Proximal 16P11.2 Microdeletion Syndrome	Hand polydactyly, Rib fusion, Craniosynostosis, Micrognathia	ORPHA:261197
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Micrognathia, Mesomelia, Camptodactyly, Prominent fingertip pads, Clino...	OMIM:618529
Holoprosencephaly 9	Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Cryptorchidism, Postaxial hand polydacty...	OMIM:610829
Severe Congenital Nemaline Myopathy	Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Arthrogr...	ORPHA:171430
Frontorhiny	Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Finger clinodact...	ORPHA:391474
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye...	ORPHA:87
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Refractory Celiac Disease	Elevated hepatic transaminase, Osteoporosis, Elevated alkaline phosphatase of bone origin, Weight...	ORPHA:398063
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Genu valgum, Shor...	OMIM:615630
Dominant Beta-Thalassemia	Hyperplasia of the maxilla, Bowing of the long bones, Malar prominence, Genu valgum	ORPHA:231226
Andersen-Tawil Syndrome	Abnormality of dental color, Micrognathia, Hypoplasia of the maxilla, Persistence of primary teet...	ORPHA:37553
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Short humer...	ORPHA:17
Crouzon Syndrome	Hypoplasia of the maxilla, Multiple suture craniosynostosis	ORPHA:207
Mandibulofacial Dysostosis With Alopecia	Hypoplasia of the maxilla, Trismus, Delayed eruption of primary teeth, Micrognathia	OMIM:616367
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Pes planus, Congenital hip dislocation, Tapered finger, Micrognathia, Dela...	OMIM:616007
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D...	OMIM:263520
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Thickened ribs, Dense calvaria, Joint stiffness	OMIM:252900
Pyruvate Dehydrogenase E1-Alpha Deficiency	Talipes, Single transverse palmar crease, Flexion contracture, Limb undergrowth, Pes cavus	ORPHA:79243
Microphthalmia, Syndromic 1	Syndactyly, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Pectus excavatum, Agenesis o...	OMIM:309800
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the distal phalange...	ORPHA:1647
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Flexion contracture, Talipes equinovarus, Narrow chest, Death in childhood, Li...	OMIM:619124
Glycosylphosphatidylinositol Biosynthesis Defect 11	Elevated circulating alkaline phosphatase concentration	OMIM:616025
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, Short tibia, Finger sy...	ORPHA:2751
Cleft Lip/Palate	Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta...	ORPHA:199306
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Micrognathia, Missing ribs, Abnormality of the spleen, Abnormal rib morp...	ORPHA:1834
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Micrognathia, Humeroradial synostosis, Abnormal rib morphology, ...	ORPHA:3404
Dyskeratosis Congenita	Recurrent fractures, Abnormality of neutrophils, Hypoplasia of the maxilla, Carious teeth, Thromb...	ORPHA:1775
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Primary Biliary Cholangitis	Portal hypertension, Jaundice, Osteoporosis, Hepatitis, Elevated circulating alkaline phosphatase...	ORPHA:186
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly, Spina bifida occulta, Shoulder muscle hypoplasia	OMIM:184400
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Decreased methionine synthase activity, Micrognathia, Thrombocytopenia, Bell-shaped thorax, Normo...	OMIM:614857
Nablus Mask-Like Facial Syndrome	Sandal gap, Single transverse palmar crease, Short hallux, Tapered finger, Craniosynostosis, Hypo...	OMIM:608156
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Small hand, Short foot, Short palm	ORPHA:238750
Stickler Syndrome	Arachnodactyly, Protrusio acetabuli, Abnormal dental enamel morphology, Micrognathia, Hypoplasia ...	ORPHA:828
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Narrow chest,...	OMIM:619479
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Micromelia, Capitate-hamate fusion, Short thorax, Genu valgum, Acute l...	ORPHA:289
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Rickets, Osteomalacia	OMIM:613388
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Elevated hepatic transaminase, Joint laxity, Pancytopenia, Portal hypertension, Pectu...	OMIM:613658
Myotubular Myopathy With Abnormal Genital Development	Death in infancy, Thin ribs, Neonatal death, Retrognathia, Joint hypermobility	OMIM:300219
Lymphangiectasia, Intestinal	Lymphopenia, Stillbirth, Prominent floating ribs, Pedal edema	OMIM:152800
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Syndactyly, Joint laxity, Rhizomelia, Craniosynostosis, Micrognath...	OMIM:613610
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Alagille Syndrome	Hypoplasia of the ulna, Micrognathia, Abnormal rib morphology, Clinodactyly of the 5th finger, Sp...	ORPHA:52
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypoplasia of the maxilla, Palmoplantar keratoderma, 2-3 toe syndactyly	OMIM:106260
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Hyposegmentati...	OMIM:614800
Beta-Thalassemia Major	Hyperplasia of the maxilla, Bowing of the long bones, Malar prominence, Genu valgum	ORPHA:231214
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Micrognathia, Absent frontal sinuses, Osteoporosis, Dental malocclusion...	OMIM:102500
Rapp-Hodgkin Syndrome	Syndactyly, Hypoplasia of the maxilla, Carious teeth, 2-3 toe cutaneous syndactyly, Palmoplantar ...	OMIM:129400
Cholestasis, Benign Recurrent Intrahepatic, 2	Elevated circulating alkaline phosphatase concentration, Intrahepatic cholestasis, Jaundice	OMIM:605479
Mosaic Trisomy 9	Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Micrognathia, Aspleni...	ORPHA:99776
Robinow Syndrome, Autosomal Dominant 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Rhiz...	OMIM:180700
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short foot, Limb undergrowt...	OMIM:617809
Myhre Syndrome	Mandibular prognathia, Overlapping toe, Hypoplasia of the maxilla, Cryptorchidism, Short toe, 2-3...	OMIM:139210
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Elevated circulating aspartate aminotransferase concentration, Long fo...	OMIM:280000
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Spatulate ribs, Broad clavicles, Genu valgum, Hip dysplasia, Broad ribs	OMIM:619698
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Genu valgum	OMIM:617798
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Talipes, Micromelia, M...	ORPHA:1908
Spondylocostal Dysostosis 1, Autosomal Recessive	Vertebral fusion, Block vertebrae, Rib fusion, Death in infancy	OMIM:277300
Catel-Manzke Syndrome	Short humerus, Short metacarpal, Short femur, Micrognathia, Short toe, Genu valgum, Hyperphalangy...	OMIM:616145
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the maxilla	ORPHA:2399
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Single transverse palmar crease, Micromelia, Proximal placement of thu...	OMIM:122470
Mucopolysaccharidosis, Type Iiic	Splenomegaly, Thickened ribs, Dense calvaria, Joint stiffness	OMIM:252930
7Q31 Microdeletion Syndrome	Prominent fingertip pads, Hypoplasia of the maxilla, Clinodactyly of the 2nd finger	ORPHA:251061
Isolated Biliary Atresia	Elevated hepatic transaminase, Small for gestational age, Jaundice, Elevated circulating alkaline...	ORPHA:30391
Autosomal Recessive Robinow Syndrome	Micrognathia, Pectus carinatum, Clinodactyly of the 5th finger, Bilateral single transverse palma...	ORPHA:1507
Distal Deletion 19P	Long toe, Hypoplasia of the maxilla, Arachnodactyly	ORPHA:96129
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, ...	OMIM:212750
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Osteomalacia, Wrist swelling, Hip dislocation, Rickets, Genu valgum, Fin...	OMIM:309000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Micrognathia, Pectus excavatum, Wide anterior fontanel, Deep plantar creases, Elevated circulatin...	OMIM:618548
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Craniofacial hyperostosis, Joint stiffness, Avascular necrosis of t...	ORPHA:581
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro...	ORPHA:2519
Cholestasis, Progressive Familial Intrahepatic, 8	Elevated circulating aspartate aminotransferase concentration, Portal hypertension, Jaundice, Ele...	OMIM:619662
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the maxilla, Cryptorchidism, Ulnar ...	ORPHA:1101
Pallister-Hall Syndrome	Syndactyly, Natal tooth, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, ...	OMIM:146510
Crouzon Syndrome	Mandibular prognathia, Sagittal craniosynostosis, Hypoplasia of the maxilla, Lambdoidal craniosyn...	OMIM:123500
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Avascular necrosis of the capital femoral epiphysis, Elevated circulating alka...	ORPHA:247691
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Triphalangeal ...	ORPHA:84
Prune Belly Syndrome	Pectus excavatum, Congenital hip dislocation, Abnormal rib morphology, Talipes equinovarus	ORPHA:2970
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatic failure, Elevated alkaline phosphatase of bone origin, Pro...	OMIM:616828
Goldberg-Shprintzen Syndrome	Tapered finger, Hypoplasia of the maxilla, Increased femoral anteversion, Small hand, Clinodactyl...	OMIM:609460
Shwachman-Diamond Syndrome 2	Normocytic anemia, Death in infancy, Anterior rib cupping, Thrombocytopenia, Metaphyseal widening...	OMIM:617941
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Short tho...	ORPHA:93271
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Adducted thumb, Micromelia, Bilateral single transverse palmar creases	ORPHA:50810
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Retrognathia, Joint hypermobility, Thin ribs	ORPHA:456328
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Delayed eruption of teeth, Death in infancy, Osteomalacia, Abnormal dental...	ORPHA:534
Omodysplasia 1	Short humerus, Increased fibular diameter, Rhizomelia, Malar flattening, Micrognathia, Limited kn...	OMIM:258315
Wild Type Attr Amyloidosis	Elevated circulating alkaline phosphatase concentration, Pedal edema, Weight loss	ORPHA:330001
Cystinosis	Rickets, Portal hypertension	ORPHA:213
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion contracture, H...	OMIM:268300
Osteogenesis Imperfecta, Type Xv	Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility, Thin ribs	OMIM:615220
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormal rib morphology, Micrognathia	OMIM:601076
8Q24.3 Microdeletion Syndrome	Microretrognathia, Pes planus, Long toe, Congenital hip dislocation, Small for gestational age, S...	ORPHA:508488
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Hypoplasia of the maxilla, Finger clinodactyly, Pectoral muscle hypoplas...	ORPHA:306542
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Pes planus, Malar flattening, Tapered finger, Hip dislocation, Genu valgum, Hepatosplenomegaly, H...	OMIM:301066
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Block vertebrae, Missing ribs, Pectus excavatum, Short thorax, Rib fusion, Bell...	OMIM:613686
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Pectus excavatum, Abnormal foot morphol...	ORPHA:2990
Fetal Akinesia Deformation Sequence 1	Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Microg...	OMIM:208150
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Pes planus, Congenital hip dislocation, Arachnodactyly, Protrusio aceta...	OMIM:225400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Death in infancy, Micrognathia, Flexion contracture, Elbow flexion contracture, ...	OMIM:300868
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Crypto...	OMIM:209885
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies	OMIM:307500
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Malar flattening, Ulnar deviation of the hand	OMIM:122880
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Bilateral cryptorchi...	OMIM:211380
Cleft Velum	Hypoplasia of the maxilla	ORPHA:99772
Rubinstein-Taybi Syndrome 1	Plantar crease between first and second toes, Single transverse palmar crease, Micrognathia, Hypo...	OMIM:180849
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Severe B lymphocytopenia, Anterior rib cupping, Aplasia o...	OMIM:102700
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Trismus, Abnormal rib morphology, Palmoplantar hyperk...	ORPHA:2907
Gm1-Gangliosidosis, Type I	Death in infancy, Thickened ribs, Joint stiffness, Splenomegaly, Vacuolated lymphocytes, Hypoplas...	OMIM:230500
Meier-Gorlin Syndrome 7	2-4 finger syndactyly, Joint laxity, Sagittal craniosynostosis, Bowing of the legs, Aplasia/Hypop...	OMIM:617063
Branchioskeletogenital Syndrome	Amelia involving the lower limbs, Mandibular prognathia, Thoracolumbar kyphoscoliosis, Craniosyno...	ORPHA:1299
Craniosynostosis And Dental Anomalies	Hallux valgus, Mandibular prognathia, Delayed eruption of teeth, Broad hallux, Sagittal craniosyn...	OMIM:614188
Osteopetrosis With Renal Tubular Acidosis	Abnormal circulating enzyme concentration or activity, Pancytopenia, Recurrent fractures, Microgn...	ORPHA:2785
Cowden Syndrome 5	Hypoplasia of the maxilla, Hydrocele testis, Palmoplantar hyperkeratosis, Micrognathia	OMIM:615108
Hydrolethalus	Postaxial hand polydactyly, Retrognathia, Micromelia, Micrognathia	ORPHA:2189
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Elevated circulating alkaline phosphatase concentration, Shortening of all distal phalanges of th...	OMIM:614207
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Small for...	ORPHA:69665
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Missing ribs, Bifid distal phalanx of the th...	ORPHA:97360
Monosomy 9Q22.3	Delayed eruption of teeth, Pectus excavatum, Palmar pits, Plantar pits, Abnormal rib morphology, ...	ORPHA:77301
Treacher-Collins Syndrome	Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Multiple enchondromat...	ORPHA:861
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Hypoplastic pubic ramus, Arachnodactyly, Short hallux, Micrognath...	ORPHA:280
Kagami-Ogata Syndrome	Micrognathia, Coxa valga, Limitation of joint mobility, Bell-shaped thorax, Coat hanger sign of r...	ORPHA:254519
Tetrasomy 9P	Aplasia/Hypoplasia of the clavicles, Hypoplastic scapulae, Abnormal dental enamel morphology, Mis...	ORPHA:3310
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Hypoplasia of the maxilla, Cryptorchidism	OMIM:601499
Citrullinemia, Type Ii, Neonatal-Onset	Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated...	OMIM:605814
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Pes planus, Short femur, Talipes, Micrognathia, Talipes equinovarus, Broad distal phalanx of fing...	OMIM:300990
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Small for gestational age, Portal hypertension, Jaundice, Elevated...	ORPHA:567983
Primrose Syndrome	Hip contracture, Calcification of the auricular cartilage, Joint hypermobility, Pectus excavatum,...	OMIM:259050
Coccidioidomycosis	Osteomyelitis, Abscess, Eosinophilia, Abnormality of the spleen, Osteolysis, Abnormal long bone m...	ORPHA:228123
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Finger syndactyly, Vertebral fusion, Congenital hip dislocation, Toe synda...	ORPHA:373
Cowden Syndrome 6	Hypoplasia of the maxilla, Hydrocele testis, Palmoplantar hyperkeratosis, Micrognathia	OMIM:615109
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Long toe, Short humerus, Short femur, Camptodactyly of finger, Hypoplastic ilia, Long...	ORPHA:3455
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Joint stiffness, Splenomegaly, Achilles...	OMIM:252940
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ...	ORPHA:485
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Congenital hip dislocation, Limb joint contracture, Coxa valga, Sp...	ORPHA:404454
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, Clinodactyly of ...	ORPHA:319675
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Vertebral fusion, Accessory spleen, Pseudoepiphyses of the metaca...	OMIM:194190
Acrocephalopolydactylous Dysplasia	Craniosynostosis, Postaxial hand polydactyly, Polysplenia, Micromelia	OMIM:200995
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab...	OMIM:118100
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Carious teeth, Fle...	ORPHA:2908
Cutis Marmorata Telangiectatica Congenita	Short lower limbs, Bowing of the legs	OMIM:219250
Cardiofaciocutaneous Syndrome	Abnormal morphology of ulna, Cryptorchidism, Genu valgum, Deep palmar crease, Palmoplantar kerato...	ORPHA:1340
Zttk Syndrome	Craniosynostosis, Hypoplasia of the maxilla, Flexion contracture, Rib fusion, Small hand, Short f...	OMIM:617140
Septopreoptic Holoprosencephaly	Abnormal rib morphology	ORPHA:280195
Trisomy 18	Microretrognathia, Camptodactyly of finger, Abnormality of the lower limb, Postaxial hand polydac...	ORPHA:3380
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Small for gestational age, Long foot, Micrognathia, Hypopla...	OMIM:264090
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Brachydactyly, Enamel hypoplasia, Short long bone, Short palm	OMIM:619184
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Pes planus, Overlapping toe, Hypoplasia of the maxilla, Bilateral cryptorc...	OMIM:617402
Kbg Syndrome	Syndactyly, Vertebral fusion, Single transverse palmar crease, Rib fusion, Cutaneous syndactyly, ...	OMIM:148050
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Micrognathia, Metatarsus adductus, Osteopathia striata, Hip dysplasia, Pes cavus, Hyperplasia of ...	ORPHA:513456
Peters-Plus Syndrome	Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Micrognathi...	OMIM:261540
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal rib morphology, Abnormality of the humeroulnar joint	ORPHA:2234
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Wilson Disease	Acute hepatic failure, Hemolytic anemia, Elevated circulating aspartate aminotransferase concentr...	OMIM:277900
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Long clavicles, Overlapping toe, Arachnodactyly, Single transverse palmar crease, Micrognathia, S...	ORPHA:83617
Caroli Disease	Portal hypertension, Intrahepatic cholestasis, Jaundice, Elevated circulating alanine aminotransf...	ORPHA:53035
Cystinosis, Nephropathic	Splenomegaly, Metaphyseal widening, Rickets, Genu valgum, Hypophosphatemic rickets, Rachitic rosary	OMIM:219800
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Micrognathia, Dental malocclusion, Mesomelia, Camptodactyly, Clinodactyly, Short phal...	OMIM:616894
Lethal Congenital Contracture Syndrome 5	Death in infancy, Congenital contracture, Flexion contracture, Thin ribs	OMIM:615368
Cowden Syndrome 1	Hypoplasia of the maxilla, Hydrocele testis, Palmoplantar hyperkeratosis, Micrognathia	OMIM:158350
Angelman Syndrome	Mandibular prognathia, Hypoplasia of the maxilla	OMIM:105830
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Abnormal rib morphology	ORPHA:2578
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltransferase level...	OMIM:613095
Vacterl/Vater Association	Preaxial hand polydactyly, Finger syndactyly, Aplasia/Hypoplasia of the radius, Abnormal rib morp...	ORPHA:887
Mucolipidosis Ii Alpha/Beta	Hypoplastic scapulae, Coxa valga, Micrognathia, Metaphyseal widening, Split hand, Hip dislocation...	OMIM:252500
Gallbladder Disease 1	Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration	OMIM:600803
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Camptodactyly of finger, Micromelia, Coxa valga, Pectus excavatum, Elbow dislo...	ORPHA:3107
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Decreased testicular size	ORPHA:3044
Monosomy 9P	Proximal placement of thumb, Micrognathia, Abnormality of the tarsal bones, Postaxial hand polyda...	ORPHA:261112
Geleophysic Dysplasia 1	Short palm, Camptodactyly of finger, Coxa valga, Short foot, Short long bone, Irregular capital f...	OMIM:231050
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Long fingers, Ca...	OMIM:256520
Gm1 Gangliosidosis Type 1	Flared iliac wing, Short long bone, Flattened femoral head, Acetabular dysplasia, Broad long bone...	ORPHA:79255
Mucopolysaccharidosis Type 2, Severe Form	Abnormal circulating enzyme concentration or activity, Otosclerosis, Thickened ribs, Camptodactyl...	ORPHA:217085
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla	ORPHA:782
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Low alkaline phosphatase	OMIM:201100
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Miscarriage, Abnormality of the foot musculature, Thin r...	ORPHA:169189
Short Stature, Microcephaly, And Endocrine Dysfunction	Limb undergrowth, Clinodactyly, Lymphopenia, Pes cavus, Anemia	OMIM:616541
Smith-Lemli-Opitz Syndrome	Finger syndactyly, Rhizomelia, Abnormal dental enamel morphology, Proximal placement of thumb, Mi...	ORPHA:818
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Syndactyly, Short metacarpal, Scapular winging, Single transverse palmar c...	OMIM:150230
Fryns Syndrome	Microretrognathia, Single transverse palmar crease, Proximal placement of thumb, Rocker bottom fo...	OMIM:229850
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal circulating enzyme concentration or activity, Otosclerosis, Thickened ribs, Camptodactyl...	ORPHA:217093
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Weight loss	ORPHA:67
Charge Syndrome	Delayed eruption of teeth, Talipes, Abnormal tibia morphology, Abnormal rib morphology, Bifid fem...	ORPHA:138
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Tapered finger	OMIM:618367
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Neutrophilia, Overlapping toe, Microcytic anemia, Leukocytosis, Broad palm...	ORPHA:99843
Cerebrocostomandibular Syndrome	Death in infancy, Tracheomalacia, Micrognathia, Posterior rib gap, Bell-shaped thorax, Clinodacty...	ORPHA:1393
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Tapered toe, Tapered finger, Rib fusion, Clinodactyly of the 5th finger, Retrognathia	ORPHA:544488
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Syndactyly, Elevated circulating aspartate aminotransferase concentration, Postaxial ...	OMIM:619534
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Cachexia, Jaundice, Weight loss, E...	ORPHA:275761
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Flexion contracture, Thin ribs	OMIM:614833
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Micromelia, Deep palmar crease, Retrognathia, Re...	ORPHA:1675
Cornelia De Lange Syndrome	Delayed eruption of teeth, Toe syndactyly, Abnormal morphology of ulna, Micromelia, Proximal plac...	ORPHA:199
Primary Sclerosing Cholangitis	Osteopenia, Acute hepatic failure, Elevated hepatic transaminase, Abnormal eosinophil morphology,...	ORPHA:171
Spondylocostal Dysostosis 2, Autosomal Recessive	Rib fusion	OMIM:608681
Smith-Lemli-Opitz Syndrome	Microretrognathia, Death in infancy, Overlapping toe, Micromelia, Proximal placement of thumb, Me...	OMIM:270400
C Syndrome	Death in infancy, Toe syndactyly, Talipes, Micromelia, Micrognathia, Pectus excavatum, Limitation...	ORPHA:1308
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,...	OMIM:617156
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Toe syndactyly, Hypogonadotropic hypogonadism, Hypoplasia of the maxilla, Carious teeth, Cryptorc...	OMIM:604292
Ablepharon Macrostomia Syndrome	Hypoplasia of the maxilla, Toe syndactyly, Hypoplasia of the zygomatic bone, Camptodactyly of finger	ORPHA:920
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets	ORPHA:309031
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Agenesis of molar, Aplasia of the maxilla	OMIM:313500
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Toe syndactyly, Hypogonadotropic hypogonadism, Hypoplasia of the maxilla, Carious teeth, Cryptorc...	OMIM:129900
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal rib morphology	ORPHA:93941
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ...	OMIM:192350
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Dextrocardia	Abnormality of the spleen, Congenital hip dislocation, Abnormal rib morphology, Abnormal foot mor...	ORPHA:1666
Hartsfield Syndrome	Syndactyly, Ectrodactyly, Hypoplasia of the frontal bone, Cryptorchidism	OMIM:615465
Distal Renal Tubular Acidosis	Hemolytic anemia, Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mine...	ORPHA:18
Schisis Association	Micromelia	ORPHA:63862
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia	OMIM:600740
Al Amyloidosis	Elevated circulating alkaline phosphatase concentration, Weight loss	ORPHA:85443
Witteveen-Kolk Syndrome	Microretrognathia, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placement of thumb, ...	OMIM:613406
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Calcification of the auricular cartilage, Elevated alkaline phosphatase ...	ORPHA:51608
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Arachnodactyly, Sagittal craniosynostosis, Absent thumb, Hypoplasia of the maxilla, Rib fusion, H...	ORPHA:500150
17Q11 Microdeletion Syndrome	Osteopenia, Bowing of the legs, Osteoporosis, Osteolysis, Diaphyseal dysplasia, Large hands, Abno...	ORPHA:97685
Holoprosencephaly 7	Hypoplasia of the premaxilla	OMIM:610828
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Intermittent jaun...	ORPHA:100085
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated hepatic transaminase, Failure to thrive in infancy, Jaundice, Elevated circulating alkal...	ORPHA:247598
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Thrombocytopenia, Thin ribs	OMIM:617397
Caroli Syndrome	Elevated hepatic transaminase, Liver abscess, Portal hypertension, Hypersplenism, Intrahepatic ch...	ORPHA:480520
Hypohidrotic Ectodermal Dysplasia	Hypoplasia of the maxilla, Sinusitis	ORPHA:238468
Chromosome 14Q11-Q22 Deletion Syndrome	Micrognathia, Hip subluxation, Mesomelia	OMIM:613457
Cardiospondylocarpofacial Syndrome	Joint laxity, Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Short foot, Pseudoepiphyses, ...	OMIM:157800
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Thrombocytosis, Leukocytosis, Elevated circulating alkaline phosph...	ORPHA:94093
Mirizzi Syndrome	Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration	ORPHA:521219
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Missing ribs, Rib fusion, Thin ribs, Short ribs	OMIM:271520
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Interface hepatitis, Elevated circulating alkaline phosphatase con...	ORPHA:562639
Alagille Syndrome 1	Elevated hepatic transaminase, Hypoplasia of the ulna, Abnormal rib morphology, Prolonged neonata...	OMIM:118450
Renal Cysts And Diabetes Syndrome	Abnormality of alkaline phosphatase level, Gout, Elevated hepatic transaminase	OMIM:137920
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Elevated ...	OMIM:124000
Gallbladder Neuroendocrine Tumor	Elevated alkaline phosphatase of hepatic origin, Intermittent jaundice, Elevated gamma-glutamyltr...	ORPHA:100086
Infantile Nephropathic Cystinosis	Rickets	ORPHA:411629
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Splenomegaly, Hepatitis, Arth...	OMIM:619381
Senior-Boichis Syndrome	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Portal hy...	ORPHA:84081
Holoprosencephaly 2	Malar flattening, Aplasia of the premaxilla	OMIM:157170
Cerebrofaciothoracic Dysplasia	Sprengel anomaly, Rib fusion, Narrow chest, Bifid ribs	ORPHA:1394
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Camptodactyly of finger, Metatarsus adductus, Wide anterior fontanel, Rib fusio...	OMIM:607872
Charge Syndrome	Hypoplasia of the ulna, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Micrognathia, Ab...	OMIM:214800
1P36 Deletion Syndrome	11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Lower limb asymmetry, Abnormality of ...	ORPHA:1606
Leukemia, Chronic Myeloid	Reduced leukocyte alkaline phosphatase	OMIM:608232
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Coat hanger sign of ribs, Thoracic hypoplasia	ORPHA:254534
Branchiooculofacial Syndrome	Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short thumb, Preaxial...	OMIM:113620
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Hypoplasia of the maxilla, Taurodontia	OMIM:305100
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures	ORPHA:3337
Microphthalmia, Syndromic 3	Vertebral fusion, Missing ribs, Rib fusion, Supernumerary ribs, Vertebral hypoplasia	OMIM:206900
Townes-Brocks Syndrome	Broad hallux phalanx, Pes planus, Toe syndactyly, Lower limb asymmetry, Preaxial hand polydactyly...	ORPHA:857
Reynolds Syndrome	Elevated hepatic transaminase, Splenomegaly, Jaundice, Elevated circulating alkaline phosphatase ...	OMIM:613471
Isolated Exencephaly	Abnormal facial skeleton morphology, Hypoplasia of the frontal bone	ORPHA:563612
Craniofacial Microsomia 1	Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Partial duplication of thumb phalanx, G...	OMIM:164210
Familial Hypocalciuric Hypercalcemia	Osteomalacia	ORPHA:405
Pontine Tegmental Cap Dysplasia	Ankle clonus, Rib fusion	OMIM:614688
Juvenile Nephropathic Cystinosis	Abnormal long bone morphology, Elevated alkaline phosphatase of bone origin	ORPHA:411634
Pagod Syndrome	Abnormal clavicle morphology, Abnormality of the spleen, Abnormal rib morphology, Death in infancy	ORPHA:991
Peters Plus Syndrome	Toe syndactyly, Rhizomelia, Micromelia, Micrognathia, Short toe, Short foot, Clinodactyly of the ...	ORPHA:709
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Abnormal paranasal sinus morphology, Abnormal facial skeleton ...	ORPHA:141099
Frontofacionasal Dysplasia	Malar flattening, Hypoplasia of the frontal bone	OMIM:229400
Axenfeld-Rieger Syndrome, Type 1	Hypoplasia of the maxilla	OMIM:180500

Histopathology

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

There is no histopathology data for Ifitm5

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ifitm5.

No publications found that use IMPC mice or data for Ifitm5.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ifitm5^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Ifitm5^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ifitm5^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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