Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
inositol polyphosphate-4-phosphatase, type II
Synonyms:
E130107I17Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Inpp4b 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.

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

The table below shows human diseases predicted to be associated to Inpp4b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis OMIM:608805
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Abnormal foot morphology, Upper limb undergrowth, Aplasia/hy... ORPHA:75508
Acroosteolysis
Osteolytic defects of the phalanges of the hand, Osteolytic defects of the phalanges of the toes OMIM:102400
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal fingertip morphology, Epiphyseal dysplasia, Limited elb... ORPHA:79106
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Winchester Syndrome
Generalized osteoporosis, Broad metacarpals, Osteolysis involving tarsal bones, Carpal osteolysis OMIM:277950
Extensor Tendons Of Finger Anomalies
Osteoporosis, Limitation of joint mobility, Camptodactyly of finger ORPHA:3294
Ulnar Hypoplasia
Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio... OMIM:191440
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Osteolysis ORPHA:2776
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m... ORPHA:970
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Short distal phalanx of finger, Brachydactyly, Joint hypermobility ORPHA:2787
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Medial Condensing Osteitis Of The Clavicle
Limited shoulder movement, Patchy reduction of bone mineral density ORPHA:57196
Familial Expansile Osteolysis
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex OMIM:174810
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... ORPHA:2141
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Sandal gap, Short thumb, Radial club hand, Bila... ORPHA:1972
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Aplasia/hypoplasia involving bones of the extremities, Arthralgia of the hip, Broad hallux, Irreg... ORPHA:1856
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short humerus, Hypoplas... OMIM:619598
Juvenile Hyaline Fibromatosis
Joint stiffness, Progressive flexion contractures, Osteolysis, Abnormal diaphysis morphology ORPHA:2028
Van Bogaert-Hozay Syndrome
Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hypoplasia OMIM:277150
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... ORPHA:93323
Hyaline Fibromatosis Syndrome
Osteopenia, Progressive flexion contractures, Osteoporosis, Flexion contracture, Osteolysis OMIM:228600
Osteosarcoma
Abnormal femoral metaphysis morphology, Pathologic fracture, Abnormal tibial metaphysis morpholog... ORPHA:668
Osteoporosis
Osteoporosis OMIM:166710
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone mineral density, Genu varum, Delay... OMIM:617974
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Limitation of joint mobility, Abnormal epiphysis morphology, Micromel... ORPHA:93351
Syndactyly Type 4
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... ORPHA:93405
Gnathodiaphyseal Dysplasia
Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, R... ORPHA:53697
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal epiphysis morphology, Abnormal metaphysis morphology, Bowing of the long bones, Metaphys... ORPHA:2501
Leri-Weill Dyschondrosteosis
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe... OMIM:127300
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Gorham-Stout Disease
Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Abnormal femur morphology,... ORPHA:73
Premature Ovarian Failure 2B
Osteoporosis OMIM:300604
Osebold-Remondini Syndrome
Mesomelia, Short toe, Short tibia, Carpal synostosis, Type A brachydactyly, Radial deviation of f... OMIM:112910
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Anemia, Osteoporosis, Osteolysis ORPHA:100024
Brachydactyly Type A1
Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal... ORPHA:93388
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome
Craniosynostosis, Forearm undergrowth, Lower limb undergrowth OMIM:218650
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn... ORPHA:1802
Prieto Syndrome
Clinodactyly, Radial deviation of finger, 11 pairs of ribs, Talipes equinovarus, Patellar subluxa... OMIM:309610
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Ollier Disease
Micromelia, Joint stiffness, Anemia, Abnormal metaphysis morphology, Osteolysis ORPHA:296
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Osteopenia And Sparse Hair
Osteopenia, Joint hypermobility OMIM:259690
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Limitation of joint mobility, Carpal osteolysis, Slender long bone, Camptodactyly of finger, Meta... ORPHA:2774
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi... ORPHA:2878
Ulnar Hypoplasia With Impaired Intellectual Development
Talipes equinovarus, Limitation of knee mobility, Bilateral ulnar hypoplasia, Limited elbow movement OMIM:276821
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Finger clinodactyly, Patellar subluxation, Bilateral talipes equinovarus, Osteoporosis, Coxa valga ORPHA:2958
Mietens-Weber Syndrome
Elbow flexion contracture, Pes planus, Dislocated radial head, Forearm undergrowth, Absent proxim... OMIM:249600
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Dislocated radial head, Micrognathia, Scapul... OMIM:602471
Chondroectodermal Dysplasia With Night Blindness
Epiphyseal dysplasia, Osteopenia, Fractures of the long bones, Equinovarus deformity, Talipes cal... ORPHA:319195
Rosaï-Dorfman Disease
Anemia, Osteolysis ORPHA:158014
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Short femoral neck, Knee dislocation, Joint hypermobility, Carpal bone hypoplasia, Pes planus, Hy... OMIM:618395
Langer Mesomelic Dysplasia
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... OMIM:249700
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Metaphyseal irregularity, Arthralgia of the hip, Broad femoral neck, Hypopl... OMIM:607078
Hip Dysplasia, Beukes Type
Abnormal epiphysis morphology, Broad femoral neck, Abnormality of the epiphysis of the femoral he... ORPHA:2114
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Abnormal hip bone morphology, Recurrent fract... ORPHA:93160
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Short 4th metaca... ORPHA:50809
Ulna Hypoplasia-Intellectual Disability Syndrome
Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Joint stiffness... ORPHA:2249
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Increased susceptibility to... OMIM:602080
Dermatoosteolysis, Kirghizian Type
Abnormal diaphysis morphology, Abnormal foot morphology, Abnormality of the wrist, Abnormality of... ORPHA:1657
Forsythe-Wakeling Syndrome
Osteoporosis, Thrombocytopenia OMIM:613606
Keratoderma Hereditarium Mutilans
Autoamputation of digits, Osteolysis, Honeycomb palmoplantar hyperkeratosis ORPHA:494
Progressive Pseudorheumatoid Dysplasia
Joint contracture of the hand, Camptodactyly of finger, Abnormal foot morphology, Joint stiffness... OMIM:208230
Tenosynovial Giant Cell Tumor
Abnormality of the ankle, Limitation of joint mobility, Abnormal shoulder morphology, Localized o... ORPHA:66627
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Osteoarthritis of the elbow, Limitation... ORPHA:2619
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh... OMIM:601438
Acrodysostosis
Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Short toe, Micromelia, Abnormal diaphysi... ORPHA:950
Ritscher-Schinzel Syndrome 3
Short 1st metacarpal, Short first metatarsal, Micrognathia, Epiphyseal stippling, Ulnar bowing, P... OMIM:619135
Epiphyseal Dysplasia, Multiple, 1
Delayed epiphyseal ossification, Hip osteoarthritis, Epiphyseal dysplasia, Broad femoral neck, Ir... OMIM:132400
Congenital Disorder Of Glycosylation, Type Iik
Epiphyseal dysplasia, Joint hypermobility, Diaphyseal dysplasia, Metaphyseal dysplasia, Thrombocy... OMIM:614727
Ovarian Dysgenesis 1
Osteoporosis OMIM:233300
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal cupping, Contractures of the large joints, Short femoral neck, Pes cavus, Short humer... OMIM:616716
Mueller-Weiss Syndrome
Tibiofibular diastasis, Equinovarus deformity, Sclerosis of foot bone, Tibial torsion, Positional... ORPHA:566943
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short toe, Micromelia, Short tibia, Aplasia of the middle phalanges o... ORPHA:2098
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ad... OMIM:617719
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... ORPHA:2634
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Stippled calcification proximal h... OMIM:222765
Boomerang Dysplasia
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Poorly ossif... ORPHA:1263
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Cone-shaped epiphysis ORPHA:71267
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteoporosis, Osteopenia, Genu valgum OMIM:614880
Pseudopseudohypoparathyroidism
Osteoporosis, Short metatarsal, Short metacarpal, Brachydactyly OMIM:612463
Hutchinson-Gilford Progeria Syndrome
Generalized osteoporosis, Micrognathia, Osteolysis OMIM:176670
Osteogenesis Imperfecta, Type Xxi
Bowing of the arm, Joint hypermobility, Pes valgus, Pes planus, Coxa vara, Osteoporosis, Recurren... OMIM:619131
Hypophosphatemic Bone Disease
Bowing of the legs, Rickets, Osteomalacia OMIM:146350
Familial Hyperprolactinemia
Osteoporosis, Osteopenia ORPHA:397685
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Short femoral neck, Reduced bone mineral density, Brachydactyly, Delayed ossification of carpal b... OMIM:618392
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Isolated Glycerol Kinase Deficiency
Osteoporosis ORPHA:408
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Enlargement of the wrists, Fibular b... OMIM:600081
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Osteopenia, Femoral bowing, Recurrent fractures OMIM:126550
Juvenile Paget Disease
Coarse metaphyseal trabecularization, Cranial hyperostosis, Bowing of the long bones, Osteoporosi... ORPHA:2801
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Osteoarthritis of the elbow, Wrist swelling, Short femoral neck, Camptodactyly of finger, Camptod... ORPHA:2848
Acheiropody
Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... OMIM:200500
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... ORPHA:3329
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Flat acetabular roof, Short distal phalanx of the 5t... OMIM:271700
Spondyloepiphyseal Dysplasia Congenita
Aplasia/hypoplasia involving bones of the extremities, Short femoral neck, Abnormal foot morpholo... ORPHA:94068
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis OMIM:204730
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Shallow acetabular fossae, Recurrent fractures, Genu valgum, Broad femoral head, Redu... OMIM:620639
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, ... OMIM:166260
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Coarse metaphyseal trabecularization, Epiphyseal stippling, Bowing of the long bones, Abnormal bo... ORPHA:1952
Arms, Malformation Of
Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna OMIM:107900
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... OMIM:166740
Frank-Ter Haar Syndrome
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Abnormal metacarpal morphology, Brachy... ORPHA:137834
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Short humerus, Lateral femoral bowing, Bowing of the ... OMIM:239000
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615267
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Pes planus, Medi... OMIM:251450
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Osteogenesis Imperfecta, Type Xii
Hypermobility of interphalangeal joints, Bowing of the legs, Micrognathia, Bowing of the arm, Bow... OMIM:613849
Cranioectodermal Dysplasia
Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abnormal diaphysis morphology, Cli... ORPHA:1515
Pyle Disease
Absent paranasal sinuses, Genu valgum, Limited elbow extension, Cubitus valgus, Thin bony cortex,... OMIM:265900
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri... OMIM:300554
Bruck Syndrome 1
Ankle flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures, Knee... OMIM:259450
Odontochondrodysplasia 1
Mesomelia, Genu recurvatum, Metaphyseal cupping, Micromelia, Irregular epiphyses, Cone-shaped epi... OMIM:184260
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Craniofacial osteosclerosis, Abnormal epiphysis morphology, Osteomyelitis, Hyperostosis, Abnormal... ORPHA:324964
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Reduced bone mineral density, Recurrent fractures ORPHA:2410
Mycetoma
Structural foot deformity, Painless fractures due to injury, Pathologic fracture, Osteomyelitis, ... ORPHA:2583
Ophthalmomandibulomelic Dysplasia
Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ... ORPHA:2741
Thalidomide Embryopathy
Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi... ORPHA:3312
Bruck Syndrome
Joint stiffness, Bowing of the long bones, Talipes equinovarus, Osteoporosis, Arthrogryposis mult... ORPHA:2771
Multiple Epiphyseal Dysplasia, Lowry Type
Delayed epiphyseal ossification, Epiphyseal dysplasia, Rhizomelia, Small epiphyses, Micrognathia,... ORPHA:166016
Diamond-Blackfan Anemia 11
Finger aplasia, Absent thumb, Unilateral radial aplasia, Anemia of inadequate production, Radioul... OMIM:614900
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Abnormal lower limb bone morphology, Increased susceptibility to fractures, Joint hyp... ORPHA:2788
Spondylometaphyseal Dysplasia, Type A4
Irregular patellae, Hypoplasia of the capital femoral epiphysis, Metaphyseal sclerosis, Sclerotic... OMIM:609052
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Single transverse palm... OMIM:227270
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
Short Stature, Dauber-Argente Type
Osteopenia, Decreased fibular diameter, Arachnodactyly, Long toe, Long fingers, Reduced bone mine... OMIM:619489
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... OMIM:612447
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno... ORPHA:166277
Infantile Myofibromatosis
Abnormal metaphysis morphology, Limitation of joint mobility, Osteolysis, Bone cyst ORPHA:2591
Bent Bone Dysplasia Syndrome 2
Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fe... OMIM:620076
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi... ORPHA:3409
Spondyloepiphyseal Dysplasia, Maroteaux Type
Genu valgum, Pes planus, Generalized osteoporosis, Small joint hypermobilty, Short femoral neck, ... OMIM:184095
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Ramon Syndrome
Osteolysis ORPHA:3019
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg... ORPHA:1159
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Short humerus, Brachydactyl... ORPHA:2831
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis ORPHA:2786
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Abnormal metacarpal morph... ORPHA:2370
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Abnormal hand morphology, Osteolysis involving tarsal bones, Incre... ORPHA:371428
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Micromelia, Abnormal femur morphology, Reduced bone miner... ORPHA:1508
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Flared metaphysis, Short 5th metacarpal, Short middle phalanx of the 2nd finger, Metaphyseal dysp... OMIM:156510
Mietens Syndrome
Elbow dislocation, Joint stiffness, Avascular necrosis of the capital femoral epiphysis, Talipes,... ORPHA:2557
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Epiphyseal Chondrodysplasia, Miura Type
Epiphyseal dysplasia, Osteopenia, Fifth finger distal phalanx clinodactyly, Broad hallux, Long ha... OMIM:615923
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ... ORPHA:2491
Idiopathic Hypercalciuria
Osteoporosis, Osteopenia ORPHA:2197
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Genu varum, Femoral bowing, Short long bone, Metaphyseal irregul... ORPHA:174
Multiple Synostoses Syndrome 1
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... OMIM:186500
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ... ORPHA:52056
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob... OMIM:114000
Ulnar Hypoplasia-Split Foot Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna, Split foot ORPHA:1122
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Enlargement of the wrists, Hypophosp... OMIM:241530
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Osteoporosis, Clinodactyly OMIM:614838
Perrault Syndrome 1
Osteoporosis, Talipes equinovarus, Pes cavus OMIM:233400
Metaphyseal Anadysplasia
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho... ORPHA:1040
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Flared metaphysis, Decreased fibular diameter, Micrognathia, Decreased skull ossifica... OMIM:616897
Solitary Bone Cyst
Abnormal ilium morphology, Pathologic fracture, Lytic defects of the radius, Abnormal tibia morph... ORPHA:83468
Fibrous Dysplasia Of Bone
Rickets, Lower limb asymmetry, Osteomalacia, Cortical irregularity, Pathologic fracture, Abnormal... ORPHA:249
Hall-Riggs Syndrome
Osteoporosis, Brachydactyly, Metaphyseal dysplasia OMIM:234250
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Broad femoral neck, Thenar muscle atrophy, Abnormal metaphysis morphology, Flat capit... ORPHA:157965
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Osteoporosis, Joint hypermobility OMIM:616033
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender long bones with narrow diaphyses, Osteopenia, Dense metaphyseal bands ORPHA:50811
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Osteoporosis OMIM:619971
Aggressive Systemic Mastocytosis
Pathologic fracture, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased pro... ORPHA:98850
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Trap... OMIM:307800
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Rothmund-Thomson Syndrome, Type 1
Osteoporosis OMIM:618625
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Hypoplasia of the odontoid process, Limitation of joint mobility, Finger swe... ORPHA:93284
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Metaphyseal cupping, Flared metaphysis, Genu varum, Bowing of the legs OMIM:619073
Osteogenesis Imperfecta, Type Xviii
Micrognathia, Femoral bowing, Joint hypermobility, Bowing of the long bones, Thin bony cortex, Ge... OMIM:617952
Rhyns Syndrome
Osteopenia, Radial bowing, Brachydactyly, Short long bone, Osteoporosis, Short femoral neck OMIM:602152
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Knee dislocation, Short tubular b... ORPHA:56305
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Pathologic fracture, Abnormal long bone morphology, Increased susceptibility to fractures, Calvar... ORPHA:52430
Osteopetrosis, Autosomal Recessive 6
Cortical sclerosis of the iliac wing, Erlenmeyer flask deformity of the femurs, Osteopetrosis, De... OMIM:611497
Osteogenesis Imperfecta, Type X
Osteopenia, Rhizomelia, Micromelia, Micrognathia, Genu valgum, Fibular bowing, Tibial bowing, Joi... OMIM:613848
Pseudopseudohypoparathyroidism
Short 5th finger, Ectopic ossification, Short distal phalanx of the thumb, Short 5th metacarpal, ... ORPHA:79445
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Limitation of joint mobility, Abnormal epiphysis morphology, Premature epimetaphyseal... ORPHA:85435
Desmoid Tumor
Limitation of joint mobility, Osteolysis ORPHA:873
Omodysplasia 2
Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shortening, Micro... OMIM:164745
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Ap... OMIM:108720
Osteogenesis Imperfecta, Type Xiii
Wide distal femoral metaphysis, Recurrent fractures, Femoral bowing, Wide pubic symphysis, Joint ... OMIM:614856
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Camptodactyly of ... ORPHA:356961
Atelosteogenesis Type I
Rhizomelia, Absent or minimally ossified vertebral bodies, Micrognathia, Talipes equinovarus, Lim... ORPHA:1190
Congenital Disorder Of Glycosylation, Type Iiy
Hip subluxation, Reduced bone mineral density OMIM:620200
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi... OMIM:251230
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Lower limb asymmetry, Osteomalacia, Ricket... ORPHA:289176
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures OMIM:615066
Kyphomelic Dysplasia
Limitation of joint mobility, Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humer... OMIM:211350
Pachydermoperiostosis
Small hand, Clubbing of toes, Limitation of joint mobility, Palmoplantar keratoderma, Abnormal ep... ORPHA:2796
Autosomal Recessive Omodysplasia
Rhizomelia, Micromelia, Elbow dislocation, Micrognathia, Abnormal femur morphology, Abnormal morp... ORPHA:93329
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Epiphyseal dysplasia, Hip dislocation, Hypoplasia of the odontoid process, Shortening of all midd... OMIM:226980
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... OMIM:259600
Classic Hodgkin Lymphoma
Splenomegaly, Osteolysis ORPHA:391
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri... OMIM:300009
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Warburg Micro Syndrome 1
Osteoporosis, Overlapping toe, Micrognathia, Joint hypermobility OMIM:600118
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Enlar... OMIM:264700
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Camptodactyly, Osteoporosis, Syndactyly OMIM:616006
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Osteomyelitis, Abscess, Splenomegaly, Neutrophilia, Osteolysis, Fused ce... OMIM:612852
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Osteopenia, Aplasia/Hypoplasia of the radius, Aplastic anemi... ORPHA:2909
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Osteopenia OMIM:615266
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Enlar... OMIM:277440
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Micrognathia, Osteoporosis, Finger joint contracture, Flexion contracture of toe ORPHA:48431
Congenital Bile Acid Synthesis Defect Type 1
Osteoporosis, Splenomegaly ORPHA:79301
Pseudohypoparathyroidism, Type Ia
Short toe, Short finger, Subcutaneous ossification, Brachydactyly, Osteoporosis, Short metatarsal... OMIM:103580
Hypophosphatasia, Adult
Rickets, Osteomalacia, Pathologic fracture, Abnormal foot morphology, Increased susceptibility to... OMIM:146300
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Osteoporosis, Abnormal mast... ORPHA:98848
Hypophosphatemic Rickets, Autosomal Dominant
Abnormality of the lower limb, Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Rickets, Osteomalacia, Joint stiffness, Micrognathia, Avascular necrosis of the capit... ORPHA:1901
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared iliac bones, Anterior tib... OMIM:112350
Idiopathic Juvenile Osteoporosis
Osteoporosis, Recurrent fractures ORPHA:85193
Upper Limb Mesomelic Dysplasia
Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna ORPHA:2497
Cenani-Lenz Syndactyly Syndrome
Broad hallux, Micrognathia, Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ul... OMIM:212780
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ... ORPHA:100026
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Osteopenia, Ankle clonus, Hypoplasia of the ulna, Osteoporosis OMIM:615398
Diabetes Insipidus, Neurohypophyseal
Osteopenia OMIM:125700
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... ORPHA:83451
Osteogenesis Imperfecta, Type Xxii
Slender long bone, Bowing of the long bones, Pseudoarthrosis, Thin bony cortex, Multiple prenatal... OMIM:619795
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Micrognathia, Genu valg... ORPHA:56304
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Ankle swelling, Carpal osteolysis, Wrist swelling, Metacarpal osteolysis, Metatarsal ... OMIM:166300
Acro-Renal-Ocular Syndrome
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Aplasia/Hypoplasia of the r... ORPHA:959
Autosomal Dominant Omodysplasia
Rhizomelia, Short 1st metacarpal, Elbow dislocation, Micrognathia, Short humerus, Patellar disloc... ORPHA:93328
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb,... ORPHA:3258
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Tooth abscess, Iron deficiency anemia, Bowing of the legs ORPHA:89937
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... OMIM:246570
Osteogenesis Imperfecta, Type Xvii
Thin metacarpal cortices, Recurrent fractures, Joint hypermobility, Bowed humerus, Osteoporosis, ... OMIM:616507
Spondylometaphyseal Dysplasia, Pagnamenta Type
Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Pes planus, ... OMIM:619638
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia, Hypoplasia of the... ORPHA:2256
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Osteoporosis, Eosinophilia OMIM:620532
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Micrognathia, Apl... ORPHA:3320
Brachyolmia Type 1, Hobaek Type
Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Flat acetabu... OMIM:271530
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Micrognathi... OMIM:274000
Mucolipidosis Type Iii
Craniofacial hyperostosis, Joint stiffness, Abnormal hip bone morphology, Hypoplastic inferior il... ORPHA:577
Sialidosis Type 2
Osteoporosis, Flexion contracture, Splenomegaly, Pedal edema ORPHA:87876
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal fingertip morphology, Short distal phalanx of finger, Micrognathia, Aplasia/Hypoplasia o... ORPHA:90154
Occipital Horn Syndrome
Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Pes planus, Abnormal fibula morph... ORPHA:198
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis OMIM:618234
Tyrosinemia Type 1
Rickets of the lower limbs, Splenomegaly ORPHA:882
Maffucci Syndrome
Recurrent fractures, Osteolysis ORPHA:163634
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Limitation of joint mobility, Aplasia/Hypoplasia of the clavicles... ORPHA:90153
Cantu Syndrome
Erlenmeyer flask deformity of the femurs, Broad hallux, Broad first metatarsal, Hypoplastic ischi... OMIM:239850
Osteogenesis Imperfecta, Type Xix
Osteopenia, Rhizomelia, Bowing of the arm, Joint hypermobility, Multiple prenatal fractures, Recu... OMIM:301014
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... ORPHA:1988
Distal Duplication 5Q
Absent thumb, Micrognathia, Brachydactyly, Hypoplasia of the radius, Hypoplasia of the ulna, Cran... ORPHA:96097
Gaucher Disease Type 1
Splenic infarction, Osteopenia, Erlenmeyer flask deformity of the femurs, Pathologic fracture, He... ORPHA:77259
Hypercholanemia, Familial, 2
Osteopenia OMIM:619256
Cranio-Osteoarthropathy
Clubbing of toes, Deviation of finger, Abnormal tibia morphology, Joint stiffness, Abnormal corti... ORPHA:1525
Osteogenesis Imperfecta, Type V
Osteopenia, Abnormal pelvic girdle bone morphology, Anterior radial head dislocation, Joint hyper... OMIM:610967
Schwartz-Jampel Syndrome, Type 1
Abnormal femoral epiphysis morphology, Congenital hip dislocation, Joint contracture of the hand,... OMIM:255800
Stuve-Wiedemann Syndrome 1
Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti... OMIM:601559
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Deep longitudinal plantar crease, Elbow flexion contracture, Micro... OMIM:214150
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteoporosis, Osteopenia, Increased susceptibility to fractures OMIM:612287
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia, Single transverse palmar crease OMIM:218550
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Talipes equinovarus, ... OMIM:143095
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Pathologic fracture, Joint stiffness, Mandibular osteolysis, Micrognathia, Lim... OMIM:614008
Menkes Disease
Osteoporosis, Metaphyseal spurs, Metaphyseal widening, Joint hypermobility OMIM:309400
Fanconi Renotubular Syndrome 3
Rickets, Bowing of the legs OMIM:615605
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Ankylosis, Palmoplantar hyperhidrosis, Palmoplantar keratoderma, Osteolysis ORPHA:659
Multiple Epiphyseal Dysplasia Type 4
Limitation of joint mobility, Radial bowing, Hypoplastic cervical vertebrae, Premature osteoarthr... ORPHA:93307
Hyperparathyroidism, Transient Neonatal
Osteopenia, Fractured rib, Metaphyseal spurs, Femoral bowing, Splenic cyst, Short ribs, Subperios... OMIM:618188
Pelviscapular Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac... ORPHA:93333
Felty Syndrome
Limitation of joint mobility, Abnormal lymphocyte morphology, Splenomegaly, Synovitis, Neutropeni... ORPHA:47612
Rhyns Syndrome
Osteopenia, Hypoplastic ilia, Small epiphyses, Abnormal acetabulum morphology, Abnormal long bone... ORPHA:140976
Analbuminemia
Osteoporosis OMIM:616000
Al-Gazali Syndrome
Osteopenia, Broad distal phalanx of finger, Proximal radio-ulnar synostosis, Micrognathia, Wrist ... OMIM:609465
Hjv Or Hamp-Related Hemochromatosis
Osteoporosis ORPHA:79230
Acrofacial Dysostosis Syndrome Of Rodriguez
Absent forearm, Clinodactyly, Short tibia, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs ... OMIM:201170
Kaposiform Lymphangiomatosis
Fractures of the long bones, Hepatosplenomegaly, Abnormal femur morphology, Splenomegaly, Abnorma... ORPHA:464329
Osteogenesis Imperfecta, Type Iii
Slender long bone, Micrognathia, Protrusio acetabuli, Bowing of limbs due to multiple fractures, ... OMIM:259420
Infantile Systemic Hyalinosis
Osteopenia, Micromelia, Camptodactyly of finger, Osteomalacia, Joint stiffness, Increased suscept... ORPHA:2176
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteoporosis, Osteopenia ORPHA:369
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Erlenmeyer flask deformity of the femurs, Hypersplenism, Splenomegaly, Thrombocytopen... OMIM:610539
Geroderma Osteodysplastica
Hip dislocation, Abnormal epiphysis morphology, Joint hypermobility, Talipes, Pes planus, Abnorma... ORPHA:2078
Van Den Ende-Gupta Syndrome
Joint contracture of the hand, Hypoplastic scapulae, Long metacarpals, Long hallux, Micrognathia,... OMIM:600920
W Syndrome
Radial bowing, Clinodactyly, Elbow dislocation, Pes cavus, Cubitus valgus, Pes planus, Hypoplasia... ORPHA:2804
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Hypochromic anemia, Rickets, Oste... ORPHA:289157
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ... ORPHA:440354
Diffuse Cutaneous Systemic Sclerosis
Flexion contracture, Narrow foramen obturatorium, Osteolysis, Arthritis ORPHA:220393
Codas Syndrome
Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Genu valgum, Sh... OMIM:600373
Postaxial Acrofacial Dysostosis
Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the ulna, Hypoplasia of t... ORPHA:246
Ruijs-Aalfs Syndrome
Clinodactyly, Elbow flexion contracture, Micrognathia, Single transverse palmar crease, Down-slop... OMIM:616200
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteoporosis, Osteopenia, Increased susceptibility to fractures OMIM:612286
Thrombocytopenia 6
Osteoporosis, Myelofibrosis, Thrombocytopenia OMIM:616937
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of capital fe... OMIM:208500
Hypochondroplasia
Flared metaphysis, Limited elbow extension, Trident hand, Aplasia/hypoplasia of the extremities, ... OMIM:146000
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Short metatarsal, Brachydactyly, Short metacarpal OMIM:612462
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Pathologic fracture, Hypophosphatemic rickets, Reduced bone mineral density, Bowing... ORPHA:157215
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Congenital knee ... OMIM:130060
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Osteopenia, Avascular necrosis of the capital femoral epiphysis OMIM:611555
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteoporosis, Osteopenia ORPHA:529665
Melnick-Needles Syndrome
Short distal phalanx of finger, Hypoplastic scapulae, Flared metaphysis, Cone-shaped epiphyses of... OMIM:309350
Diamond-Blackfan Anemia 7
Osteopenia, Small hypothenar eminence, Increased mean corpuscular volume, Short thumb, Macrocytic... OMIM:612562
Duane-Radial Ray Syndrome
Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi... OMIM:607323
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Nasu-Hakola Disease
Acute leukemia, Abnormal epiphysis morphology, Limitation of joint mobility, Bone cyst, Reduced b... ORPHA:2770
Achondroplasia
Rhizomelia, Radial bowing, Flared metaphysis, Femoral bowing, Limited elbow extension, Trident ha... OMIM:100800
Mucolipidosis Type Iii Alpha/Beta
Generalized osteoporosis, Joint stiffness, Flexion contracture, Osteolysis ORPHA:423461
Multiple Osteochondromas
Limitation of joint mobility, Abnormal tibia morphology, Limited hip movement, Abnormal hand morp... ORPHA:321
Immunodeficiency 43
Reduced natural killer cell count, Radial bowing, Hypoplasia of the ulna, Lung abscess, B lymphoc... OMIM:241600
Immunodeficiency 12
Osteoporosis, Abnormal lymphocyte count, Clubbing OMIM:615468
Nail-Patella Syndrome
Equinovarus deformity, Talipes calcaneovalgus, Abnormal tibia morphology, Contracture of the dist... ORPHA:2614
Hypercholanemia, Familial 1
Rickets OMIM:607748
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Micrognathia, Clinodactyly ORPHA:357175
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Splenomegaly, Lipogranulomatosis, Osteolytic defects of t... OMIM:228000
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Limitation of joint mobility, Osteolytic defects of the phalanges of the hand, Palmop... OMIM:259100
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Micrognathia, Splenomegaly, Tibial bowing, Abnormality of the lower limb, Bowing o... ORPHA:3035
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis OMIM:610628
3M Syndrome
Congenital hip dislocation, Rocker bottom foot, Slender long bone, Micromelia, Hypoplastic pelvis... ORPHA:2616
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Squared iliac bones, Knee dislocation, Micrognathia, Joint hypermobility, Cervical C2... OMIM:618000
Hyperzincemia With Functional Zinc Depletion
Osteoporosis OMIM:601979
Chromomycosis
Abnormal foot morphology, Abnormality of the lower limb, Abnormality of the upper limb, Ankylosis... ORPHA:182
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Cranioectodermal Dysplasia 1
Short distal phalanx of finger, Rhizomelia, Clinodactyly, Short toe, Radial deviation of finger, ... OMIM:218330
X Small Rings
Toe syndactyly, Upper limb undergrowth, Clinodactyly of the 5th finger, Lower limb undergrowth, J... ORPHA:96201
X-Linked Hypophosphatemia
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Tooth abscess, Genu varum, V... ORPHA:89936
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Osteopenia, Abnormality of carpal bone ossification, Genu valgum, Cubitus valgus, Metaphyseal str... OMIM:608154
Premature Aging Syndrome, Okamoto Type
Osteoporosis OMIM:601811
Papillon-Lefèvre Syndrome
Palmoplantar keratoderma, Osteolysis, Arachnodactyly, Palmoplantar hyperkeratosis, Recurrent cuta... ORPHA:678
Brachyolmia Type 1, Toledo Type
Broad tibial metaphyses, Precocious costochondral ossification, Short femoral neck OMIM:271630
Occipital Horn Syndrome
Genu valgum, Limited elbow extension, Short humerus, Joint hypermobility, Short clavicles, Limite... OMIM:304150
Intellectual Developmental Disorder, Autosomal Recessive 35
Hypoplasia of the ulna, Micrognathia, Clinodactyly OMIM:615162
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Micromelia, Joint stiffness, Femoral bowing, Bowing of the long bones, Abnormal... ORPHA:1860
Bruck Syndrome 2
Osteopenia, Elbow flexion contracture, Femoral bowing, Increased susceptibility to fractures, Kne... OMIM:609220
Mucopolysaccharidosis, Type Ivb
Constricted iliac wing, Hypoplasia of the odontoid process, Hypoplasia of the capital femoral epi... OMIM:253010
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,... ORPHA:1350
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short toe, Short tibia, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Sandal gap, Short humerus, Short ribs, Talipes equinovarus, Hypoplasia o... OMIM:607143
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Joint hypermobility, Epi... OMIM:253000
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa... ORPHA:85170
Ovarian Dysgenesis 8
Osteoporosis OMIM:618187
Shox-Related Short Stature
Micrognathia, Genu valgum, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, ... ORPHA:314795
Geroderma Osteodysplasticum
Osteopenia, Femoral bowing, Increased susceptibility to fractures, Tibial bowing, Camptodactyly, ... OMIM:231070
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Microcytic anemia, Splenomegaly, Osteoporosis, Bone-marrow foam cells OMIM:257200
Sapho Syndrome
Craniofacial osteosclerosis, Osteomyelitis, Recurrent fractures, Hyperostosis, Synovitis, Abnorma... ORPHA:793
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Single transverse palmar crease, Joint hypermobility, 2-3 toe syndactyly, Recurrent f... ORPHA:2324
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Cone-shaped epiphyses of the middle phalanges of the hand, Short finger, Avascular ne... OMIM:190351
Amish Lethal Microcephaly
Osteoporosis, Micrognathia, Limitation of joint mobility, Decreased skull ossification ORPHA:99742
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Joint stiffness,... ORPHA:1275
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Clinodactyly, Pancytopenia, Macrocytic anemia, Neutropenia, Os... ORPHA:2169
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Micrognathia, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Pes p... OMIM:245600
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Cleidocranial Dysplasia
Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Micr... ORPHA:1452
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Joint contracture of the hand, Broad femoral neck, Flared metaphysis, Camptodactyly o... OMIM:612350
Omodysplasia 1
Rhizomelia, Short tibia, Limited knee flexion/extension, Limited elbow flexion, Limited hip movem... OMIM:258315
Renal Tubular Acidosis, Proximal
Rickets, Osteomalacia OMIM:179830
19P13.3 Microduplication Syndrome
Clinodactyly, Micrognathia, Pes cavus, Long fingers, Hip dysplasia, Osteoporosis, Hip subluxation... ORPHA:447980
Laurin-Sandrow Syndrome
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Preaxi... ORPHA:2378
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal foot morphology, Short tubular... ORPHA:85184
Spondyloepimetaphyseal Dysplasia, Irapa Type
Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Genu valgum, Limited elbow extens... OMIM:271650
Cantú Syndrome
Short distal phalanx of finger, Finger syndactyly, Deep plantar creases, Coxa valga, Short hallux... ORPHA:1517
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Osteopenia, Osteoporosis ORPHA:785
Cleidocranial Dysplasia 2
Osteopenia, Short distal phalanx of finger, Broad thumb, Aplastic clavicle, Delayed ossification ... OMIM:620099
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hypoplasia of the r... OMIM:602418
Congenital Myopathy 15
Camptodactyly, Osteopenia, Joint hypermobility OMIM:620161
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Osteoporosis, Micrognathia, Joint contracture OMIM:615381
H Syndrome
Osteolysis, Microcytic anemia, Hepatosplenomegaly, Pes planus, Hallux valgus, Camptodactyly, Hist... ORPHA:168569
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... ORPHA:93356
Microphthalmia With Limb Anomalies
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Postaxial foot polydactyly, Sho... ORPHA:1106
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Clinodactyly, Micrognathia, Clinodactyly of the 5th finger, Single transverse palmar crease, Oste... ORPHA:73272
Fibular Aplasia-Complex Brachydactyly Syndrome
Synostosis of carpal bones, Abnormal epiphysis morphology, Limitation of joint mobility, Micromel... ORPHA:2639
Linear Verrucous Nevus Syndrome
Genu recurvatum, Toe syndactyly, Talipes, Reduced bone mineral density, Short metacarpal ORPHA:2611
Morgagni-Stewart-Morel Syndrome
Osteoporosis, Hyperostosis frontalis interna, Osteoarthritis ORPHA:77296
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Leukopenia, Diaphyseal dysplasia, Thrombocytopenia, Myelofibrosis... OMIM:231095
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Small thenar eminence, Mesomelic ar... OMIM:268305
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Clinodactyly, Osteolysis involving bones of the upper limbs, Brachydactyly, Camptodactyly, Flexio... ORPHA:88630
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Microretrognathia, Aplasia/Hypoplasia of ... ORPHA:1788
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Micrognathia, Genu valgum, Talipes equino... OMIM:271640
Progressive Familial Intrahepatic Cholestasis
Reduced bone mineral density, Splenomegaly ORPHA:172
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Erdheim-Chester Disease
Abnormal epiphysis morphology, Osteomyelitis, Anemia, Increased bone mineral density, Abnormal me... ORPHA:35687
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Metaphyseal chondrodysplasia, Enlargement of the wrists, Reduced bone mineral density, Large knee ORPHA:83629
Camurati-Engelmann Disease, Type 2
Osteopenia, Hyperostosis, Hip contracture, Knee flexion contracture OMIM:606631
Ulnar-Mammary Syndrome
Short 5th finger, Hypoplastic scapulae, Aplasia of the 3rd finger, Short 5th toe, Short 4th toe, ... OMIM:181450
Rothmund-Thomson Syndrome Type 2
Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Patellar hypoplasia, Pathologic... ORPHA:221016
Retinal Dystrophy And Microvillus Inclusion Disease
Osteopenia OMIM:619446
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t... OMIM:119100
Ophthalmomandibulomelic Dysplasia
Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Decrea... OMIM:164900
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Patellar hypoplasia, Plantar hy... ORPHA:221008
Spondylo-Ocular Syndrome
Osteoporosis, Pes planus, Joint hypermobility ORPHA:85194
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Rhizomelic arm shortening, Lymphopenia, Leukopenia, Short humerus, Reticulocytopenia, B lymphocyt... ORPHA:508542
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent ... ORPHA:958
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Osteolysis involving bones of the upper limbs, Thrombocytopenia, Osteolysis, Ost... ORPHA:464321
Stüve-Wiedemann Syndrome
Osteopenia, Absent patellar reflexes, Limitation of joint mobility, Micromelia, Camptodactyly of ... ORPHA:3206
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Femur fracture, Osteopetrosis, Anemia OMIM:612301
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe... OMIM:200600
Chime Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Acute leukemia, Hip dislocation, Clubbing of toe... ORPHA:3474
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteoporosis, Osteopenia OMIM:615830
Hajdu-Cheney Syndrome
Osteopenia, Short distal phalanx of finger, Coarse metaphyseal trabecularization, Short toe, Oste... ORPHA:955
Microcephaly, Short Stature, And Limb Abnormalities
Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy... OMIM:617604
Axial Spondylometaphyseal Dysplasia
Flattened femoral head, Osteopenia, Abnormal ilium morphology, Aplasia/Hypoplasia of the vertebra... ORPHA:168549
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Carpal synostosis, Micrognathia, Patellar aplasia, Limited elbow mov... OMIM:218600
Peroxisome Biogenesis Disorder 3B
Osteoporosis, Single transverse palmar crease OMIM:266510
Xp21 Deletion Syndrome
Finger clinodactyly, Joint hypermobility, Calf muscle hypertrophy, Osteoporosis, Reduced bone min... ORPHA:261476
Orofaciodigital Syndrome Ix
Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia OMIM:258865
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Microretrognathia, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hypoplas... OMIM:616300
Seizures-Scoliosis-Macrocephaly Syndrome
Overlapping toe, Reduced bone mineral density ORPHA:466926
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Generalized osteoporosis, Osteoporosis, Limitation of joint mobility, Arachnodactyly OMIM:236200
Arthrogryposis, Distal, Type 4
Osteopenia, Camptodactyly of 2nd-5th fingers, Equinovarus deformity, Deviation of the 2nd toe, Fi... OMIM:609128
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Osteoporosis, Deep palmar crease, Short metacarpal OMIM:617190
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Hip contra... OMIM:210710
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short 4th toe, Short humerus, Brachydactyly, Short lower limbs, Cone-shaped... ORPHA:420794
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Micromelia, Ca... ORPHA:2633
Dent Disease
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri... ORPHA:1652
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic anemia OMIM:611590
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Rhizomelia, Microretrognathia, Joint hypermobility, Bowing of the long bones, Decreas... OMIM:616229
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... OMIM:258860
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Osteopenia, Craniosynostosis, Metaphyseal dysplasia OMIM:614732
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Dyskeratosis Congenita, Autosomal Dominant 3
Osteopenia, Aplastic anemia, Pancytopenia, Leukopenia, Avascular necrosis of the capital femoral ... OMIM:613990
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythr... ORPHA:231222
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat... OMIM:142900
Osteogenesis Imperfecta, Type Viii
Osteopenia, Radial bowing, Slender long bone, Femoral bowing, Tibial bowing, Decreased calvarial ... OMIM:610915
Perrault Syndrome 4
Osteoporosis, Cubitus valgus OMIM:615300
Pontocerebellar Hypoplasia, Type 2E
Osteoporosis, Flexion contracture, Micrognathia OMIM:615851
Mixed Connective Tissue Disease
Leukopenia, Joint stiffness, Splenomegaly, Arthritis, Hemolytic anemia, Osteolysis ORPHA:809
Alpha-Mannosidosis, Infantile Form
Osteopenia, Cranial hyperostosis, Talipes valgus, Joint stiffness, Hepatosplenomegaly, Pancytopen... ORPHA:309282
Familial Isolated Hyperparathyroidism
Generalized osteoporosis, Osteopenia ORPHA:99879
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,... OMIM:600002
Acromesomelic Dysplasia 1
Acromesomelia, Radial bowing, Short toe, Flared metaphysis, Long hallux, Cone-shaped epiphyses of... OMIM:602875
Classic Galactosemia
Osteoporosis, Abnormal erythrocyte enzyme concentration or activity, Reduced bone mineral density ORPHA:79239
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Short thumb, Abnormal foot morphology, Micrognathia, Radioulnar synos... OMIM:263750
Senior-Loken Syndrome 9
Polydactyly, Osteopenia, Hypoplasia of the femoral head OMIM:616629
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... ORPHA:2632
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Limitation of joint mobility, Dumbbell-shaped femur, Sandal gap, Flared fem... ORPHA:1427
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Decreased calvarial ossifica... OMIM:617925
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Pathologic fracture, Metaphyseal sclerosis, Genu valgum, Increased susceptibility to ... OMIM:612199
Richieri Costa-Da Silva Syndrome
Decreased anterioposterior diameter of lumbar vertebral bodies, Genu valgum, Distal lower limb mu... ORPHA:3101
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Leukopenia, Palmoplantar hyperkeratosis, Neutropenia, Thrombocytop... OMIM:613989
Propionic Acidemia
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Osteoporosis OMIM:606054
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Micrognathia, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Clinodactyl... ORPHA:1352
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Congenital hip dislocation, Arachnodactyly, Multiple prenatal fractures, Flexion cont... OMIM:271225
Porphyria, Congenital Erythropoietic
Osteopenia, Joint contracture of the hand, Pathologic fracture, Splenomegaly, Thrombocytopenia, R... OMIM:263700
Ivic Syndrome
Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Joint stif... ORPHA:2307
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Amelia, Short femur OMIM:601357
Roifman-Chitayat Syndrome
Osteopenia, Cone-shaped epiphysis, Arthritis, Short metatarsal, Short metacarpal OMIM:613328
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Ankle flexion contracture, Reduced bone mineral density, Knee flexion contracture, Hip contracture OMIM:620232
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Elbow flexion contracture, Micrognathia... OMIM:200980
Brittle Cornea Syndrome
Abnormal epiphysis morphology, Increased susceptibility to fractures, Joint hypermobility, Arachn... ORPHA:90354
Acth-Independent Macronodular Adrenal Hyperplasia 2
Osteoporosis OMIM:615954
Premature Aging Syndrome, Penttinen Type
Short distal phalanx of finger, Slender long bone, Micrognathia, Tibial bowing, Flexion contractu... OMIM:601812
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Localized osteoporosis ORPHA:199354
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Joint stiffness, Leukopenia, Splenomegaly, Joint hypermobility, Reduced bone mineral... OMIM:620210
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Fibular overgrowth, Micromelia, Short femoral neck, Flared metap... OMIM:602557
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... OMIM:602111
Acth-Independent Macronodular Adrenal Hyperplasia
Osteoporosis, Osteopenia OMIM:219080
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Elbow flexion contracture, Pes planus, Osteoporosis, Flexion contracture, Hip disloca... OMIM:614438
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Micrognathia, Pes planus, Hip d... ORPHA:84
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Osteoporosis, Reduced bone mineral density, Recurrent fractures ORPHA:2235
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Micrognathia, ... OMIM:268310
Incontinentia Pigmenti
Deviation of finger, Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Absent... ORPHA:464
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... OMIM:112250
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteoporosis, Osteopenia OMIM:610475
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Increased susceptibility to fra... ORPHA:98849
Fgfr2-Related Bent Bone Dysplasia
Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Extramedullary hematopoie... ORPHA:313855
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hand polydactyly, Proximal placement of thumb, Short humerus, Absent radius OMIM:314390
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Splenomegaly OMIM:211600
Refractory Celiac Disease
Normocytic anemia, Microcytic anemia, Abnormal spleen physiology, Macrocytic anemia, Increased pr... ORPHA:398063
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar synostosis, Abnormal metacarpal... ORPHA:2319
Congenital Myopathy 22A, Classic
Micrognathia, Knee contracture, Hip contracture, Talipes, Pes valgus, Scapular winging, Achilles ... OMIM:620351
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Recurrent fractures, Osteomalacia OMIM:613388
Osteogenesis Imperfecta, Type Iv
Femoral bowing present at birth, straightening with time, Increased susceptibility to fractures, ... OMIM:166220
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Fibular overgrowth, Abnormal epiphysis morphology, Flared metaph... ORPHA:93352
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Short distal phalanx of finger, Elbow flexion contracture, Joint stiffness, Micrognat... OMIM:248370
Kniest Dysplasia
Delayed epiphyseal ossification, Rhizomelia, Limitation of joint mobility, Tracheomalacia, Dumbbe... OMIM:156550
Difference Of Sex Development-Intellectual Disability Syndrome
Spina bifida occulta, Genu valgum, Reduced bone mineral density ORPHA:2983
Panner Disease
Limited elbow extension, Abnormality of upper limb joint, Limited elbow movement, Stiff elbow, Ir... ORPHA:97336
Farber Disease
Short toe, Abnormal foot morphology, Short finger, Hepatosplenomegaly, Abnormality of the wrist, ... ORPHA:333
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Symphalangism of the thumb, Short toe, Clinodactyly, Broad hallux, Joint stiffness, Pes planus, B... OMIM:620494
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Osteopenia, Aplastic anemia, Pancytopenia, Myeloid leukemia, Anemia, Clubbing of fingers OMIM:614742
Catel-Manzke Syndrome
Hyperphalangy of the 2nd finger, Short toe, Ulnar deviation of the 2nd finger, Micrognathia, Genu... OMIM:616145
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Proximal femoral epiphysiolysis, Short fourth metatarsal, Overlapping toe, Small epip... OMIM:616723
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Intellectual Developmental Disorder, X-Linked, Syndromic 35
2-3 toe cutaneous syndactyly, Microretrognathia, Cutaneous syndactyly of toes, Contracture of the... OMIM:300998
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Radioulnar synosto... OMIM:134780
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Lower limb asymmetry, Talipes, Reduced bone mineral density, Recurrent fractures, Upper limb asym... ORPHA:137608
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Elbow flexion contracture, 11 pairs of ribs, Micrognathia, 10 pairs o... OMIM:117650
Gaucher Disease Type 3
Pancytopenia, Increased susceptibility to fractures, Splenomegaly, Thrombocytopenia, Anemia, Incr... ORPHA:77261
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... ORPHA:1836
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Joint hypermob... OMIM:610797
Spinocerebellar Ataxia-Dysmorphism Syndrome