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Gene: Ppib MGI:97750

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

peptidylprolyl isomerase B

Synonyms:

Cphn-2, Cphn2, CyP-20b, cyclophilin B

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 Ppib 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 Ppib (1 diseases)
Human diseases predicted to be associated with Ppib (1448 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Osteogenesis Imperfecta, Type Ix		Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Decreased calvarial ossi...	OMIM:259440

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

Disease	Matching phenotypes	Source
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T...	ORPHA:53697
Avascular Necrosis Of Femoral Head, Primary, 1	Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis	OMIM:608805
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s...	OMIM:600121
Osseous Heteroplasia, Progressive	Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue	OMIM:166350
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,...	OMIM:118651
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim...	ORPHA:174
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Severe short stature, Wid...	OMIM:619598
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse...	ORPHA:2501
Mazabraud Syndrome	Fibrous dysplasia of the bones, Bone pain, Recurrent fractures	ORPHA:57782
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Short stature, Recurrent fractures, Femoral bowing, Increased susceptibility to fract...	OMIM:615066
Brachyolmia Type 1, Hobaek Type	Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph...	OMIM:271530
Monosomy 5P	Microretrognathia, Finger syndactyly, Short stature, Recurrent fractures, Short neck, Small hand,...	ORPHA:281
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica...	ORPHA:750
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporo...	ORPHA:93351
Winchester Syndrome	Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Generalized os...	OMIM:277950
Bruck Syndrome 1	Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp...	OMIM:259450
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Osteogenesis Imperfecta, Type Xix	Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple p...	OMIM:301014
Eiken Syndrome	Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph...	ORPHA:79106
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Extensor Tendons Of Finger Anomalies	Limitation of joint mobility, Osteoporosis, Camptodactyly of finger	ORPHA:3294
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Short stature, Bowing of the legs, Delayed skeletal maturation, Reduced bo...	OMIM:617974
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus...	OMIM:166260
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Joint hyperflexibility, Brachydactyly, Osteoporosis, Short distal phalanx of finger	ORPHA:2787
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Enlargemen...	OMIM:600081
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Abnorm...	ORPHA:94068
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Decreased calvarial ossi...	OMIM:259440
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Abnormality of the knee, Epiphyseal dysplasia, Metaphyseal dysplasia, Short stature, ...	ORPHA:319195
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Short stature, Kyphoscoliosis, Osteopo...	OMIM:614727
Parastremmatic Dwarfism	Bowing of the long bones, Severe short stature, Short neck, Kyphosis, Flexion contracture, Genu v...	OMIM:168400
Solitary Bone Cyst	Back pain, Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Unicameral bone ...	ORPHA:83468
Osebold-Remondini Syndrome	Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,...	OMIM:112910
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Small for gestational age, Short stature, Kyphosis, Reduced bone mineral density, Delayed ossific...	OMIM:618392
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Multip...	OMIM:619795
Hall-Riggs Syndrome	Metaphyseal dysplasia, Kyphosis, Delayed skeletal maturation, Osteoporosis, Irregular vertebral e...	OMIM:234250
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Pes planus, Short stature, Recurrent fractur...	OMIM:610967
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Severe short stature, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyl...	OMIM:126550
Bruck Syndrome	Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor...	ORPHA:2771
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ...	OMIM:156530
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ...	OMIM:259420
Forsythe-Wakeling Syndrome	Short stature, Delayed skeletal maturation, Osteoporosis, Growth delay, Decreased body weight	OMIM:613606
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615269
Progressive Pseudorheumatoid Dysplasia	Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi...	OMIM:208230
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, Hyperlordosis, Kyphosis, Dispr...	ORPHA:40
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Small for gestational age, Bea...	OMIM:616897
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay	Osteopenia, Recurrent fractures	OMIM:619884
Osteogenesis Imperfecta, Type Xxi	Pes planus, Recurrent fractures, Bowing of the legs, Coxa valga, Osteoporosis, Coxa vara, Platysp...	OMIM:619131
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyseal widening, Short ...	OMIM:251450
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Short stature, Camptodactyly of finger, Recurrent fractures, Micrognathia, Short ...	ORPHA:3409
Epiphyseal Dysplasia, Multiple, 1	Delayed epiphyseal ossification, Generalized joint laxity, Irregular vertebral endplates, Short p...	OMIM:132400
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly...	ORPHA:166277
Bruck Syndrome 2	Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Knee flexion contractu...	OMIM:609220
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Short stature, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduce...	OMIM:166220
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux...	ORPHA:93284
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met...	OMIM:184260
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Irregularity of vertebral bodies, Coxa vara, Abnormal shoulder morphology, Ir...	ORPHA:1159
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ...	OMIM:602080
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Multiple rib fractures, Microretrognathia, Angulated humerus, Small for gestational a...	OMIM:616229
Prieto Syndrome	11 pairs of ribs, Coxa valga, Osteoporosis, Patellar subluxation, Patellar dislocation, Talipes e...	OMIM:309610
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Coxa valga, Osteoporosis, Finger clinodactyly, Patellar subluxation, Bilateral talipes equinovaru...	ORPHA:2958
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Enlargemen...	OMIM:241530
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Micromeli...	ORPHA:2635
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Isolated Glycerol Kinase Deficiency	Short stature, Osteoporosis, Scoliosis, Hyperlordosis	ORPHA:408
Familial Expansile Osteolysis	Bowing of the long bones, Bone pain, Osteolysis, Pathologic fracture, Thin bony cortex	OMIM:174810
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ...	ORPHA:210110
Osteogenesis Imperfecta, Type X	Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing...	OMIM:613848
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Short stature, Osteomalacia, Irregular, rachitic-like metaphyses, Subp...	ORPHA:289157
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Beaded rib...	OMIM:166210
Dysplasia Epiphysealis Hemimelica	Pes planus, Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiff...	ORPHA:1822
Premature Ovarian Failure 2B	Osteoporosis, Delayed puberty	OMIM:300604
Bent Bone Dysplasia Syndrome 2	Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Ulnar bowing, Corona...	OMIM:620076
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteopenia, Osteoporosis, Delayed puberty	OMIM:615271
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Micrognathia, Bowing...	OMIM:613849
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Short stature, Recurrent fractures, Protrusio acetabuli, Kyphoscoliosis...	OMIM:610968
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Short stature, Metaphyseal widening, Osteoporosis,...	ORPHA:2788
Femoral-Facial Syndrome	Short femur, Short stature, Micrognathia, Abnormal sacrum morphology, Abnormal rib morphology, Ri...	ORPHA:1988
Hypergonadotropic Hypogonadism-Cataract Syndrome	Short stature, Recurrent fractures, Delayed skeletal maturation, Osteoporosis, Reduced bone miner...	ORPHA:2410
Juvenile Paget Disease	Bowing of the long bones, Short stature, Recurrent fractures, Cranial hyperostosis, Osteoporosis,...	ORPHA:2801
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol...	OMIM:614856
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the knee, Abnormality of the epiphyses of the elbow, Abnormal patella morphology, ...	ORPHA:166002
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific...	ORPHA:1426
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Thin...	OMIM:617952
Achondrogenesis Type 1A	Multiple rib fractures, Severe short stature, Recurrent fractures, Micromelia, Micrognathia, Abno...	ORPHA:93299
Lethal Congenital Contracture Syndrome Type 1	Short stature, Recurrent fractures, Micrognathia, Short neck, Limitation of joint mobility, Abnor...	ORPHA:1486
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Reduced bone mineral density, Tibial bowing, Hypoplastic iliac wing, Abnor...	ORPHA:93315
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Osteopenia, Recurrent fractures, Postnatal growth retardation, Delayed skeletal maturation, 2-3 t...	ORPHA:2324
Osteosarcoma	Abnormal femoral metaphysis morphology, Osteolysis, Weight loss, Abnormal tibial metaphysis morph...	ORPHA:668
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Short stature, Short neck, Osteoporosis, Delayed thelarche, Scoliosis, Delayed puberty	OMIM:616033
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost...	OMIM:264700
Pseudopseudohypoparathyroidism	Short metacarpal, Short stature, Short neck, Short metatarsal, Osteoporosis, Obesity, Brachydactyly	OMIM:612463
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab...	ORPHA:429
Hypophosphatasia, Infantile	Craniosynostosis, Bowing of the legs, Micromelia, Vertebral clefting, Increased susceptibility to...	OMIM:241500
Mueller-Weiss Syndrome	Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone...	ORPHA:566943
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Severe short st...	OMIM:231070
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra...	OMIM:224300
Boomerang Dysplasia	Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor...	ORPHA:1263
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios...	OMIM:222600
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Osteoart...	OMIM:177170
Mycetoma	Back pain, Abnormality of the knee, Osteomyelitis, Structural foot deformity, Bone cyst, Osteopor...	ORPHA:2583
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Osteoporosis, Short stature	ORPHA:2786
Neonatal Severe Primary Hyperparathyroidism	Abnormal metaphysis morphology, Short stature, Recurrent fractures	ORPHA:417
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa...	OMIM:613330
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short...	OMIM:271630
Osteoporosis	Osteoporosis	OMIM:166710
Flynn-Aird Syndrome	Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased bone den...	OMIM:136300
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short stature, Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelv...	ORPHA:2370
Spondylometaphyseal Dysplasia, A4 Type	Severe short stature, Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared,...	ORPHA:168555
Osteogenesis Imperfecta, Type Vi	Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Increased susceptib...	OMIM:613982
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Short stature, Recurrent fractures, Osteomalacia, B...	OMIM:300554
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Osteopenia, Dense metaphyseal bands, Small for gestational age, Short stature, Slender long bones...	ORPHA:50811
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost...	OMIM:277440
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat...	OMIM:147891
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Increased spinal bone density, Bone pain, Recurrent fractures	ORPHA:329475
Astley-Kendall Dysplasia	Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia	ORPHA:85175
Hypophosphatasia	Bowing of the long bones, Failure to thrive in infancy, Recurrent fractures, Craniosynostosis, Sh...	ORPHA:436
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Joint stiffness, Microg...	ORPHA:1801
Hypocalcemic Vitamin D-Resistant Rickets	Short stature, Recurrent fractures, Osteomalacia, Bone cyst, Genu varum, Osteolysis, Abnormal for...	ORPHA:93160
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Short stature, Abnormal limb bone morphology, Limb undergrowth, A...	ORPHA:2204
Geroderma Osteodysplastica	Beaking of vertebral bodies, Pes planus, Severe short stature, Recurrent fractures, Talipes, Oste...	ORPHA:2078
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Joint laxity, Epiphyseal dysplasia, Bowing of the long bones, Short stature, Kyphosco...	OMIM:615349
Osteoporosis, Juvenile	Osteoporosis	OMIM:259750
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Fail...	OMIM:228600
Weismann-Netter Syndrome	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h...	ORPHA:3344
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,...	OMIM:602557
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva...	ORPHA:2772
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Short stature, Premature osteoarthritis, Coxa vara, Genu ...	OMIM:607078
Albers-Schönberg Osteopetrosis	Osteomyelitis, Short stature, Recurrent fractures, Mandibular osteomyelitis, Generalized osteoscl...	ORPHA:53
Achondroplasia	Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great...	OMIM:100800
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ...	ORPHA:99642
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Cone-shaped epiphysis, Platyspondyly, Osteoporosis, Short stature	ORPHA:71267
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation...	ORPHA:3329
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Micromelia, Micrognathia, Bowing of the legs, Shor...	OMIM:255800
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp...	ORPHA:73
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Short phalanx of finger, Hypoplastic cer...	ORPHA:56304
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Short stature, Camptodactyly of finger, Micrognathia, Kyphosis, Osteoporosis, Scoliosis, Intraute...	ORPHA:48431
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Short long...	ORPHA:1423
Hemidystonia-Hemiatrophy Syndrome	Rhizomelic leg shortening, Dense calvaria, Hemiatrophy	ORPHA:306741
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa...	ORPHA:1860
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Abnormal foot morphology, Rickets, Increased susceptibility to...	OMIM:146300
Thoracomelic Dysplasia	Short neck, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Joint hyperflexibility, Abnor...	ORPHA:1803
Pyle Disease	Metaphyseal dysplasia, Metaphyseal widening, Hypoplastic frontal sinuses, Reduced bone mineral de...	OMIM:265900
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Delayed epiphyseal ...	ORPHA:166016
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Hypoplasia of...	OMIM:609813
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Osteoporosis, Joint hyperflexibil...	ORPHA:1515
Spondylometaphyseal Dysplasia, Corner Fracture Type	Short stature, Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Hyperconvex...	OMIM:184255
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Overlapping toe, Short stature, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger	OMIM:618453
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard...	ORPHA:168549
Idiopathic Juvenile Osteoporosis	Recurrent fractures, Kyphosis, Osteoporosis, Bone pain, Vertebral compression fracture	ORPHA:85193
Warburg Micro Syndrome 1	Overlapping toe, Short stature, Kyphoscoliosis, Micrognathia, Osteoporosis, Failure to thrive, Jo...	OMIM:600118
Slc35A2-Cdg	Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Failure to thrive ...	ORPHA:356961
Infantile Systemic Hyalinosis	Osteopenia, Severe short stature, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joi...	ORPHA:2176
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Short stature, Limitation of joint mobility, Growth delay, Epiphyseal stippling, Abno...	ORPHA:177
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Short stature, Recurrent fractures, Hy...	ORPHA:1782
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Decreased hip abduction, Lumbar hyperlordosis, Flat capital femoral epiphysis, Disproportionate s...	OMIM:609223
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati...	OMIM:608940
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short stature, Short middle phalanx of the 2nd finger, Multiple small vert...	OMIM:156510
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Severe short stature, Protrusio acetabuli, Abnormal femoral head morphology, Short to...	ORPHA:2619
Diastrophic Dysplasia	Micromelia, Micrognathia, Proximal placement of thumb, Symphalangism affecting the phalanges of t...	ORPHA:628
Osteopenia And Sparse Hair	Osteopenia, Joint laxity	OMIM:259690
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Micromelia, Mi...	OMIM:211350
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Osteopenia, Pathologic fracture, Bone cyst	OMIM:618193
Atelosteogenesis, Type I	Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vert...	OMIM:108720
Perrault Syndrome 1	Short stature, Osteoporosis, Talipes equinovarus, Scoliosis, Pes cavus	OMIM:233400
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Delayed skeletal maturation, Fi...	OMIM:612447
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Tapered finger, Flat capital femoral epiphysis, Moderately short stature, Flexion con...	ORPHA:157965
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Short stature, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Joint stiffness, Vertebr...	OMIM:616583
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Thin ribs...	OMIM:300863
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Lumbar hyperlordosis, Short stature, Bowing of the legs, Disproportionate short-limb short statur...	ORPHA:156728
Marshall-Smith Syndrome	Bowing of the long bones, Craniosynostosis, Accelerated skeletal maturation, Increased susceptibi...	ORPHA:561
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Short neck, Hypopla...	ORPHA:93333
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptib...	OMIM:166200
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Hitchhiker thumb, Intervertebral space narrowing, Short stature, Micrognathia, ...	OMIM:614078
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Short stature, Osteomalacia, Bowing of the legs, Bone pain, Reduced bone mineral density, Growth ...	ORPHA:157215
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O...	OMIM:608728
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Short statur...	OMIM:239000
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ...	ORPHA:93296
Stuve-Wiedemann Syndrome 1	Micrognathia, Short neck, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, S...	OMIM:601559
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Neonatal short-limb short stature, Severe limb shortening, Radial bowing,...	OMIM:151210
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Short stature, Osteoporosis, Hi...	OMIM:616507
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Short stature, Hyper...	OMIM:226980
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Weismann-Netter Syndrome	Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi...	OMIM:112350
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Failure to thrive, Osteoporosis, Scoliosis	OMIM:618234
Mucopolysaccharidosis, Type Iva	Joint laxity, Ovoid vertebral bodies, Coxa valga, Epiphyseal deformities of tubular bones, Hypopl...	OMIM:253000
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Short stature, Flat capit...	OMIM:226900
Cantu Syndrome	Broad hallux, Ovoid vertebral bodies, Short hallux, Large for gestational age, Coxa valga, Short ...	OMIM:239850
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Craniosynostosis, Missing ribs, Absent thumb, Humeroradial synostosis, ...	OMIM:251230
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Squared il...	OMIM:215045
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout	OMIM:610947
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor...	ORPHA:2790
Short Stature, Dauber-Argente Type	Osteopenia, Long toe, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth...	OMIM:619489
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific...	ORPHA:93360
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Osteoarthritis, Pedal edema, Coxa vara, Double-layered patella, Abnormal hip ...	ORPHA:166011
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Multiple prenatal fractures, Decreased calvarial ossification, Stillbirth, Disproportionate short...	OMIM:259410
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Severe short stature, Thoracolumbar sco...	OMIM:313420
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Toe syndactyly, Short neck, Elbow flexion contracture, 2-3 toe synda...	OMIM:616809
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Severe short stature, Osteoporosis	OMIM:204730
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Short stature, Recurrent fractures, Osteomalacia, B...	OMIM:300009
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Osteoarthritis, Ri...	OMIM:307800
Coxoauricular Syndrome	Short stature, Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral densi...	ORPHA:1508
Rothmund-Thomson Syndrome, Type 1	Delayed skeletal maturation, Osteoporosis, Short stature	OMIM:618625
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Lumbar hyperlordosis, Short stature, Generalized joint laxity, Genu varum, ...	OMIM:609325
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,...	OMIM:253010
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Limitation of joint mobility, Lateral humeral condyle aplasi...	ORPHA:2741
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Disproportionate short stature, Flattened epiphysis, Tibi...	ORPHA:93356
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P...	OMIM:618728
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor...	ORPHA:2756
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared me...	OMIM:602111
Pycnodysostosis	Micrognathia, Generalized osteosclerosis, Hypoplastic iliac wing, Joint laxity, Increased bone mi...	ORPHA:763
Hyperparathyroidism, Transient Neonatal	Osteopenia, Short femur, Recurrent fractures, Metaphyseal spurs, Undulate ribs, Thin ribs, Femora...	OMIM:618188
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Lumbar hyperlordosis, Camptodactyly of finger, Bone cyst, Knee osteoarthritis, Osteoporosis, Coxa...	ORPHA:2848
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small for gestational age, Short stature, Micrognathia, Postnatal growth retardation, Delayed ske...	ORPHA:73272
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Familial Hyperprolactinemia	Osteopenia, Osteoporosis	ORPHA:397685
Mucolipidosis Type Iii	Craniofacial hyperostosis, Short stature, Joint stiffness, Hyperlordosis, Abnormal form of the ve...	ORPHA:577
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ...	OMIM:271640
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced ...	ORPHA:970
Mesomelic Dysplasia, Kantaputra Type	Short stature, Talipes, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, A...	ORPHA:1836
Campomelic Dysplasia	Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Short stature, Re...	ORPHA:140
Greenberg Dysplasia	Micromelia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Patchy variation in bone mine...	OMIM:215140
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Short stature, Hyperlordosis, Osteolysis, Increased susceptibility to fractures, Abnormal long bo...	ORPHA:52430
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo...	OMIM:223800
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa...	OMIM:618961
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Small for gestational age, Rocker bottom foot, Kyphoscoliosis, Micrognathia, C...	OMIM:214150
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris...	OMIM:259600
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Short stature, Recurrent fractures, Postnatal growth retardation, ...	OMIM:616294
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Micrognathia, Accelerated skeletal maturation, Knee dislocation, Irregular vertebral endplates, M...	OMIM:618363
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Thin bony cortex, Rhizomelia, Delayed skeletal maturation, Femoral bowing, Platyspond...	OMIM:619638
Ovarian Dysgenesis 1	Osteoporosis	OMIM:233300
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Osteoporosis, Genu valgum	OMIM:614880
Congenital Disorder Of Glycosylation, Type Iiy	Delayed skeletal maturation, Hip subluxation, Scoliosis, Reduced bone mineral density	OMIM:620200
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Short stature, Recurrent fractures, Micrognathia, ...	ORPHA:2050
Ruijs-Aalfs Syndrome	Pes planus, Thoracic kyphoscoliosis, Short stature, Down-sloping shoulders, Micrognathia, Delayed...	OMIM:616200
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Bifid fe...	ORPHA:2769
Achondroplasia	Bowing of the legs, Hip joint hypermobility, Abnormal iliac wing morphology, Narrow greater sciat...	ORPHA:15
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Cachexia, Flexion contracture, Bone pain, Synoviti...	ORPHA:77297
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Small for gestational age, Recurrent fractures, Rocker bottom foot, Micrognathia, ...	ORPHA:453510
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino...	OMIM:615923
Sialidosis Type 2	Short stature, Kyphosis, Flexion contracture, Osteoporosis, Pedal edema	ORPHA:87876
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short stature, Short neck, Short toe, Short metatarsal, Osteoporosis, Obesity, ...	OMIM:103580
Spastic Paraplegia 18B, Autosomal Recessive	Kyphosis, Ankle clonus, Scoliosis, Joint contracture, Pes cavus	OMIM:611225
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Pes planus, Short stature, Tapered finger, Short neck, Hip ...	OMIM:618395
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Mesomelic le...	OMIM:249710
Dysspondyloenchondromatosis	Short stature, Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, Generalized joint laxity, De...	ORPHA:85198
Ck Syndrome	Micrognathia, Hyperlordosis, Kyphosis, Abnormal digit morphology, Scoliosis, Abnormal cortical bo...	OMIM:300831
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Femur fra...	OMIM:259700
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Short stature, Osteoporosis, Growth delay, Delayed puberty, Failure to thrive	ORPHA:369
Ruvalcaba Syndrome	Short metacarpal, Short stature, Micromelia, Kyphosis, Limited elbow extension, Short metatarsal,...	OMIM:180870
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Osteoporosis, Delayed puberty	OMIM:615270
Mu-Heavy Chain Disease	Osteoporosis, Osteolysis, Weight loss	ORPHA:100024
Smith-Mccort Dysplasia 1	Short neck, Short phalanx of finger, Genu varum, Short metacarpal, Iliac crest serration, Short s...	OMIM:607326
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Lumbar h...	OMIM:256050
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Hypoplasia of the radius, Mesomelic short stature, Short tibia, Neonatal short-limb short stature...	OMIM:156230
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, O...	OMIM:259770
Aldh18A1-Related De Barsy Syndrome	Joint hyperflexibility, Hyperextensible skin	ORPHA:35664
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Short stat...	OMIM:609324
Grange Syndrome	Short palm, Syndactyly, Increased susceptibility to fractures	ORPHA:79094
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Sacral dimple, Camptodactyly of finger, Tarsal synostosis, Micromelia, Abnorma...	ORPHA:2633
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Osteoporosis	OMIM:619971
Achondrogenesis Type 1B	Severe short stature, Micromelia, Micrognathia, Abnormal enchondral ossification, Short neck, Dis...	ORPHA:93298
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ...	OMIM:618019
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Severe short stature, Osteomalacia, Joint stiffness, Micrognathia, Coxa valga, Avascu...	ORPHA:1901
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro...	ORPHA:63446
Cleidocranial Dysplasia	Micrognathia, Coxa vara, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Spina bifida ...	ORPHA:1452
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa...	OMIM:112250
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ...	ORPHA:1517
Multiple Enchondromatosis, Maffucci Type	Pathologic fracture	OMIM:614569
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Severe short stature, Micrognathia, Metaph...	OMIM:156400
Otospondylomegaepiphyseal Dysplasia	Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal...	ORPHA:1427
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Small for gestational age, Short stature, Delayed skeletal maturation, Genu valgum, S...	OMIM:608154
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent fractures, Craniosynostosis, Scoliosis, Joint hypermobility	OMIM:147060
Rhyns Syndrome	Osteopenia, Radial bowing, Short stature, Delayed skeletal maturation, Osteoporosis, Short long b...	OMIM:602152
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Abnormality of t...	ORPHA:3098
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Recurrent fractures	ORPHA:2773
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Short stature, Tarsal synostosis, Micromelia, A...	ORPHA:2639
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Li...	OMIM:147750
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Small for gestational age, Iliac crest serration, Micromelia, Short neck, Wide distal femoral met...	OMIM:613320
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Growth delay, Syndactyly, Osteoporosis, Camptodactyly	OMIM:616006
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Short stature, Micrognathia, Wide anterior fontanel, Fibular h...	OMIM:201170
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Short neck, Ovoid vertebra...	OMIM:269250
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Crumpled long bones, Rhizomelia, Recurrent fractures, Microme...	OMIM:610682
Osteoglophonic Dysplasia	Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, B...	OMIM:166250
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Micrognathia, Bi...	OMIM:609465
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Severe short stature, ...	ORPHA:1240
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Coxa vara, Patchy reduction of b...	ORPHA:249
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Thin ribs, Incr...	OMIM:312150
Mesomelic Dysplasia, Savarirayan Type	Short stature, Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short ...	OMIM:605274
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Limitation o...	OMIM:313400
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Short stature, Metaphyseal sclerosis, Postnatal growth reta...	OMIM:612199
Menkes Disease	Joint laxity, Short stature, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Intrauterine ...	OMIM:309400
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615267
Spondylometaphyseal Dysplasia, Kozlowski Type	Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Halberd-shaped pelvis, Narrow greater...	OMIM:184252
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Accelerated skeletal maturation, Abnormal hand morphology, Metap...	ORPHA:93307
Elastoderma	Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa	ORPHA:228240
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly, Short stature	OMIM:300484
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Rocker bottom foot, Micrognathia, Short neck, Kyphosis, Camptodactyly, Neonatal...	OMIM:618393
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb...	OMIM:617396
Rhizomelic Chondrodysplasia Punctata, Type 1	Calcific stippling of infantile cartilaginous skeleton, Severe short stature, Rhizomelia, Kyphosc...	OMIM:215100
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in...	ORPHA:75508
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Accelerated skeletal maturation, Kyphosis, Disproportionate...	ORPHA:1354
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Multiple prenatal fra...	OMIM:271225
Osteogenesis Imperfecta, Type Xv	Short stature, Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fra...	OMIM:615220
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Hip contracture, Pes planus, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion con...	OMIM:600175
Nail-Patella Syndrome	Back pain, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Talipes cal...	ORPHA:2614
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Vertebral segmentation defect, Abnormal epiphy...	ORPHA:2631
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Short stature, Recurrent fractures, Reduced bone mineral density, Scoliosis, Joint hypermobility	OMIM:619115
Cole-Carpenter Syndrome 1	Osteopenia, Short stature, Recurrent fractures, Micrognathia, Vertebral compression fracture, Red...	OMIM:112240
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Micrognathia, Short neck, Accelerated skeletal maturation, Knee dislocation, Shoulder...	OMIM:245600
Congenital Bile Acid Synthesis Defect Type 1	Failure to thrive, Osteoporosis	ORPHA:79301
Spondyloepiphyseal Dysplasia, Kimberley Type	Proportionate short stature, Micromelia, Osteoarthritis, Platyspondyly, Abnormal epiphysis morpho...	ORPHA:93283
Cleidocranial Dysplasia 1	Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finger, Coxa vara, Hypoplas...	OMIM:119600
X-Linked Hypophosphatemia	Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora...	ORPHA:89936
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Delayed skeleta...	ORPHA:93324
Stüve-Wiedemann Syndrome	Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Shor...	ORPHA:3206
Spondylo-Ocular Syndrome	Pes planus, Abnormal intervertebral disk morphology, Short stature, Short neck, Osteoporosis, Dis...	ORPHA:85194
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Short t...	ORPHA:968
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Increased number of skin folds, Redundant skin, Cutis laxa	ORPHA:436274
Atelosteogenesis Type Iii	Absent humerus, Abnormal cervical curvature, Epiphyseal stippling of the humerus, Micrognathia, S...	ORPHA:56305
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Short stature, Bowing of the legs	OMIM:146350
Osteopetrosis, Autosomal Recessive 4	Increased bone mineral density, Recurrent fractures, Growth delay, Osteopetrosis, Sclerotic verte...	OMIM:611490
Bethlem Myopathy 2	Distal joint laxity, Kyphosis, Flexion contracture, Hip dislocation, Scoliosis	OMIM:616471
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Thin ribs, Incr...	OMIM:253290
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Abnormal hand morphology, Osteolysis involving bones of the upper limbs, Osteoporosis...	ORPHA:371428
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification...	OMIM:300244
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Short metacarpal, Short stature, Avascular necrosis of the capital femoral epiphysis,...	OMIM:190351
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Growth delay, Metaphyseal cupping, Genu varum	OMIM:619073
Ollier Disease	Micromelia, Joint stiffness, Bone pain, Osteolysis, Platyspondyly, Abnormal metaphysis morphology	ORPHA:296
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Short stature, Short neck, Short metatarsal, Osteoporosis, Obesity, Brachydactyly	OMIM:612462
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612287
Mucopolysaccharidosis Type 4	Bowing of the long bones, Short stature, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Delayed...	ORPHA:582
Cutis Laxa, Autosomal Recessive, Type Iie	Joint laxity, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosynostosis, Cutis laxa, Scoliosis	OMIM:619451
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Clinodactyly, Osteoporosis	OMIM:614838
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Stillbirth, Short ribs, Absent or minimally ossified vertebral bodi...	OMIM:600972
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Osteopenia, Short stature, Avascular necrosis of the capital femoral epiphysis, Delayed skeletal ...	OMIM:611555
Odontochondrodysplasia	Bowing of the long bones, Short stature, Micromelia, Coxa valga, Cone-shaped epiphysis, Joint hyp...	ORPHA:166272
Microphthalmia With Limb Anomalies	Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing...	ORPHA:1106
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Abnormal limb bone morphology,...	ORPHA:85435
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Postnatal growth retardation, Osteopetrosis, ...	OMIM:620366
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm...	ORPHA:1350
Variant Abeta2M Amyloidosis	Multiple bony cystic lesions, Wrist pain, Pathologic fracture, Knee pain, Arthralgia of the hip	ORPHA:314652
Cutis Laxa, Autosomal Dominant 2	Premature skin wrinkling, Scoliosis, Cutis laxa	OMIM:614434
Achondrogenesis	Severe short stature, Micromelia, Short neck, Micrognathia, Abnormal enchondral ossification, Abn...	ORPHA:932
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Hypochondroplasia	Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the e...	OMIM:146000
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fing...	OMIM:612394
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Arthrogryposis, Distal, Type 4	Osteopenia, 2-5 finger cutaneous syndactyly, Equinovarus deformity, Kyphosis, Camptodactyly of 2n...	OMIM:609128
Idiopathic Hypercalciuria	Osteopenia, Osteoporosis	ORPHA:2197
Tenosynovial Giant Cell Tumor	Abnormal hip joint morphology, Abnormality of the knee, Joint stiffness, Limitation of joint mobi...	ORPHA:66627
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Hallux valgus, Pes planus, Thoracic scoliosis, Micrognathia, Short neck, Osteoarthrit...	OMIM:618000
Zimmermann-Laband Syndrome 3	Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Absent distal phalan...	OMIM:618658
Osteopetrosis, Autosomal Recessive 2	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc...	OMIM:259710
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Abnormality of the knee, Lumbar hyperlordosis, Broad hallux, Micrognathia, Short neck...	ORPHA:251028
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Osteopenia, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Hyperextensible s...	ORPHA:300179
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Rhizomelia, Talipes, Micromelia, Short neck, Abnormal thumb morphology, Ab...	ORPHA:1842
Maffucci Syndrome	Short stature, Recurrent fractures, Bone pain, Osteolysis, Growth delay, Scoliosis	ORPHA:163634
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Joint laxity, Short metacarpal, Pes planus, Short stature, Camptodactyly of finger, K...	OMIM:612350
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Arachnodactyly, Kyphoscoliosis, Limitation of joint mobility, Osteoporosis, Scoliosis, Biconcave ...	OMIM:236200
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Genu recurvatum, Micrognathia, Accelerated skeletal maturation, Flexion contracture, ...	OMIM:130070
Immunodeficiency 12	Short stature, Delayed skeletal maturation, Clubbing, Osteoporosis, Growth delay, Decreased body ...	OMIM:615468
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612286
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ...	ORPHA:83
19P13.3 Microduplication Syndrome	Kyphoscoliosis, Micrognathia, Long fingers, Osteoporosis, Hip dislocation, Growth delay, Hip dysp...	ORPHA:447980
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Abnormal toe morphology, Abnormal...	OMIM:163200
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Humeror...	ORPHA:2019
Premature Aging Syndrome, Penttinen Type	Failure to thrive, Brachydactyly, Recurrent fractures, Micrognathia, Hyperextensibility of the kn...	OMIM:601812
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Short stature, Tapered finger, Kyphosis, Short...	OMIM:301900
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Talipes, Micromelia, Joint st...	ORPHA:2249
Methylcobalamin Deficiency Type Cble	Syndactyly, Postnatal growth retardation, Osteoporosis, Scoliosis, Intrauterine growth retardatio...	ORPHA:2169
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Small for gestational age, Sandal gap, Hypoplasia of the ...	OMIM:607143
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Abnormality...	ORPHA:3035
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Broad femoral neck, Micrognathia, Short tubular bones...	ORPHA:85184
Orofaciodigital Syndrome Ix	Toe syndactyly, Short stature, Hand polydactyly, Camptodactyly, Short tibia	OMIM:258865
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Short stature, Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis	OMIM:300434
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Kyphoscoliosis, Flexion contracture, Cutis laxa, Joint hyperflexibility, Hyperextensi...	ORPHA:75496
Langer Mesomelic Dysplasia	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Aplasia/...	ORPHA:2632
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Recurrent fractures	OMIM:618107
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me...	OMIM:602875
Elastosis Perforans Serpiginosa	Crusting erythematous dermatitis, Cutis laxa	ORPHA:79148
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Talipes, Recurrent fractures, Lower limb asymmetry, Reduced bone mineral density	ORPHA:137608
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Short metacarpal, Overlapping toe, Thoracolumbar scoliosis, ...	OMIM:616723
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Scoliosis, Short femur, Foot oligodactyly, Amelia	OMIM:601357
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Short stature, Recurrent fractures, Delayed skeletal maturation, Osteoporosis, Obesity, Reduced b...	ORPHA:2235
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Lumbar int...	OMIM:271510
X-Linked Intellectual Disability, Stocco Dos Santos Type	Short stature, Small for gestational age, Kyphosis, Congenital bilateral hip dislocation, Talipes...	ORPHA:85288
Satb2-Associated Syndrome Due To A Pathogenic Variant	Osteopenia, Lower limb asymmetry, Micrognathia, Postnatal growth retardation, Short foot, Growth ...	ORPHA:576283
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Generalized joint laxity, Flexion contract...	ORPHA:536471
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Anterior atlanto-occ...	ORPHA:536467
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Osteomalacia,...	ORPHA:289176
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat...	ORPHA:457395
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Small for gestational age, Postnatal growth retardation, Congenital knee dislocation, Bilateral t...	ORPHA:319332
Arthrogryposis, Distal, Type 2A	Short neck, Knee flexion contracture, Spina bifida occulta, Wrist flexion contracture, Ulnar devi...	OMIM:193700
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Short stature, Limited elbow movement, Joint stiffness, Micrognathia, Flexion ...	OMIM:614008
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Osteoarthritis, Flexion contracture, Abn...	ORPHA:666
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Short neck, Wide anterior fontanel, Preaxial polydactyly, Hy...	OMIM:617925
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly	OMIM:611263
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Micrognathia, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Elbow flexion...	ORPHA:75840
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Arachnodactyly, Joint stiffness, Kyphosis, Delayed skeletal maturation, Scoliosis	ORPHA:1548
Brittle Cornea Syndrome	Hallux valgus, Pes planus, Arachnodactyly, Osteoporosis, Increased susceptibility to fractures, J...	ORPHA:90354
Rhyns Syndrome	Osteopenia, Abnormal acetabulum morphology, Hypoplastic ilia, Delayed skeletal maturation, Abnorm...	ORPHA:140976
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones,...	OMIM:616300
Shashi-Pena Syndrome	Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2...	OMIM:617190
Ehlers-Danlos Syndrome, Classic Type, 2	Soft skin, Generalized joint laxity, Hyperextensible skin, Soft, doughy skin, Joint hypermobility	OMIM:130010
Mucolipidosis Iii Gamma	Short stature, Short neck, Flat capital femoral epiphysis, Joint stiffness, Hyperlordosis, Kyphos...	OMIM:252605
Hall-Riggs Syndrome	Short stature, Joint stiffness, Delayed skeletal maturation, Platyspondyly, Abnormal epiphysis mo...	ORPHA:2107
Rafiq Syndrome	Joint laxity, Short neck, Flexion contracture, Obesity, Cutis laxa, Truncal obesity, Joint hyperm...	OMIM:614202
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Intrauterine growth retardation, Recurrent fractures	OMIM:620368
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Micrognathia, Equin...	OMIM:224400
X Small Rings	Joint laxity, Toe syndactyly, Tapered finger, Short neck, Osteoporosis, 2-3 toe syndactyly, Upper...	ORPHA:96201
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Large for gestational age, Micrognathia, Short neck, Flexion contracture, Hemivertebrae, Tibial b...	ORPHA:96334
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Pathologic fracture, Bone cyst, Abnormal foot morphology	OMIM:221770
Myopathic Ehlers-Danlos Syndrome	Multiple joint contractures, Micrognathia, Flexion contracture, Knee flexion contracture, Congeni...	ORPHA:536516
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Micrognathia, Short neck, Kyphosis, Areflexia of lower limbs, Hip dysplasia, ...	OMIM:611890
Hypophosphatemic Rickets, Autosomal Dominant	Short stature, Osteomalacia, Abnormality of the lower limb, Rickets, Bone pain, Hypophosphatemic ...	OMIM:193100
Pontocerebellar Hypoplasia, Type 2E	Short stature, Micrognathia, Flexion contracture, Osteoporosis, Scoliosis, Failure to thrive	OMIM:615851
Periodontal Ehlers-Danlos Syndrome	Joint hyperflexibility, Hyperextensible skin	ORPHA:75392
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Short stature, Kyphoscoliosis, Micrognathia, Absent frontal sinuses, Sh...	OMIM:102500
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Back pain, Kyphoscoliosis, Cervical spondylosis, Localized osteoporosis, Lower limb pain	ORPHA:199354
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Kyphoscoliosis, Shor...	OMIM:309583
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Micrognathia, Postnatal growth retardation, Small hand, Obesity, Short foot, Scoliosis, Intrauter...	ORPHA:254531
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Pes planus, Hyperlordosis, Kyphosis, Achilles tendon contracture, Decreased pate...	OMIM:615290
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Delayed skeletal maturation...	ORPHA:77259
Pachydermoperiostosis	Osteomyelitis, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, Clubbing of to...	ORPHA:2796
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Coxa valga, Thoracolumbar kyphosis, Hypoplastic vertebral bodies, Platyspondyly,...	OMIM:230600
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen...	OMIM:300106
Insulin-Like Growth Factor I Deficiency	Osteopenia, Short stature, Micrognathia, Postnatal growth retardation, Delayed skeletal maturatio...	OMIM:608747
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis, Postnatal growth retar...	OMIM:614732
Mesomelia-Synostoses Syndrome	Abnormality of the knee, Brachydactyly, Short stature, Micromelia, Joint stiffness, Micrognathia,...	ORPHA:2496
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Micrognathia, Kyphosis, Osteoporosis, Scoliosis, Joint contracture	OMIM:615381
Fanconi Renotubular Syndrome 3	Growth delay, Rickets, Short stature, Bowing of the legs	OMIM:615605
Progressive Familial Intrahepatic Cholestasis	Delayed skeletal maturation, Failure to thrive, Short stature, Reduced bone mineral density	ORPHA:172
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han...	OMIM:200600
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho...	OMIM:300718
Kniest Dysplasia	Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Short neck, Delayed epiphyseal ossificati...	OMIM:156550
Microcephalic Primordial Dwarfism, Montreal Type	Severe short stature, Micrognathia, Kyphosis, Reduced bone mineral density, Vertebral segmentatio...	ORPHA:2617
Rin2 Syndrome	Pes planus, Increased susceptibility to fractures, Scoliosis, Joint hypermobility, Brachydactyly	ORPHA:217335
Hjv Or Hamp-Related Hemochromatosis	Osteoporosis	ORPHA:79230
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossification, Flexion contracture, Preax...	OMIM:210710
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Short stature, Abnor...	ORPHA:950
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Clinodactyly of t...	ORPHA:2616
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Macs Syndrome	Joint laxity, Redundant skin, Osteoporosis, Cutis laxa, Hyperextensible skin, Scoliosis, Decrease...	OMIM:613075
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Short metacarpal, Severe short stature, Joint hypermobility, Thoraco...	OMIM:618853
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Osteoporosis, Obesity	OMIM:610628
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Plantar hyperkeratosis, ...	ORPHA:2909
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Dispr...	ORPHA:2634
C Syndrome	Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Short stature, Micromelia, ...	OMIM:211750
Analbuminemia	Osteoporosis	OMIM:616000
Fanconi Renotubular Syndrome 2	Osteopenia, Short stature, Recurrent fractures, Osteomalacia, Rickets, Bone pain	OMIM:613388
Caffey Disease	Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo...	OMIM:114000
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Short stature, Craniosynostosis, Micrognathia, Mic...	ORPHA:93329
Eiken Syndrome	Short stature, Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular r...	OMIM:600002
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Short ...	OMIM:258315
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Bowing of the legs, Bone pain, Rickets, Growth delay	ORPHA:89937
Congenital Myopathy 22A, Classic	Hip contracture, Thoracic scoliosis, Talipes, Micrognathia, Spinal rigidity, Kyphosis, Achilles t...	OMIM:620351
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Ovoid vertebral bodies, Micrognathia, Coxa valga, Short neck, Wid...	ORPHA:163649
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency	Redundant skin, Cutis laxa	ORPHA:91135
Craniometadiaphyseal Dysplasia	Osteopenia, Broad long bones, Short stature, Coxa valga, Wide anterior fontanel, Flared metaphysi...	OMIM:269300
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Absent radius, Ulnar bowing, Split...	OMIM:171480
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Delayed skeletal maturation, Hy...	OMIM:617604
Diamond-Blackfan Anemia 7	Osteopenia, Short thumb, Osteoporosis, Growth delay, Scoliosis, Triphalangeal thumb, Intrauterine...	OMIM:612562
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Short stature, Craniosynostosis, Micrognathia, Micromelia, Split hand, Abnorma...	ORPHA:2145
Clark-Baraitser syndrome	Joint laxity, Genu recurvatum, Tapered finger, Kyphosis, Obesity, Genu valgum, Scoliosis, Short palm	OMIM:300602
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Short neck, Coxa vara, Wrist flexion contracture, Increased bone minera...	ORPHA:800
Frank-Ter Haar Syndrome	Genu recurvatum, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Abnor...	ORPHA:137834
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Limitation of joint mobility, Congenital foot contractures, Scoliosis, Clinodactyly of ...	ORPHA:3454
Dysostosis, Stanescu Type	Increased bone mineral density, Bowing of the long bones, Short stature, Micromelia, Short neck, ...	ORPHA:1798
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Frank-Ter Haar Syndrome	Osteopenia, Short palm, Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kypho...	OMIM:249420
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Ulnar deviated club hands, Lateral humeral condyle aplasia, Fibular hy...	OMIM:164900
Cooper-Jabs Syndrome	Short stature, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib m...	ORPHA:1488
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility	OMIM:618323
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Osteoporosis	ORPHA:529665
Alpha-Mannosidosis	Craniofacial hyperostosis, Bowing of the long bones, Short neck, Kyphosis, Delayed skeletal matur...	ORPHA:61
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Kyphosis, Flexion contracture, Bilateral talipes equin...	OMIM:618484
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Anauxetic Dysplasia 1	Short neck, Thoracic kyphosis, Short palm, Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short ...	OMIM:607095
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ulnar deviation of the hand, Ankle swelling, Micrognathia, Osteolysis involving tarsa...	OMIM:166300
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Micromelia, Short stature, Obesity, Genu valgum, Joint hyperflexibility	ORPHA:1035
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Short stature, Coxa...	OMIM:616716
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,...	OMIM:609945
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal widening, Irregular epiph...	OMIM:612813
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Osteopenia	OMIM:615266
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint laxity, Microretrognathia, Pes planus, Short stature, Monkey wrench femoral neck, Micromeli...	OMIM:618870
Acromesomelic Dysplasia 4	Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G...	OMIM:619636
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Large for gestational age, Delayed skeletal maturation, Osteo...	OMIM:615398
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Short stature, Patellar aplasia, Abnormal fibula morphology, Apl...	ORPHA:988
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic...	ORPHA:198
Hutchinson-Gilford Progeria Syndrome	Growth delay, Osteolysis, Generalized osteoporosis, Micrognathia	OMIM:176670
Granulomatous Slack Skin	Erythema, Redundant skin, Cutis laxa	ORPHA:33111
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Redundant skin, Seborrheic dermatitis, Erythema, Osteoporosis, Limitation of joint mo...	OMIM:259100
Sponastrime Dysplasia	Delayed epiphyseal ossification, Generalized joint laxity, Metaphyseal widening, Osteopathia stri...	ORPHA:93357
Hypertrichosis Cubiti	Severe short stature, Rhizomelia, Micromelia, Delayed skeletal maturation, Joint hyperflexibility	ORPHA:2220
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Short stature, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Truncal obesity, A...	ORPHA:2928
Orofaciodigital Syndrome Iv	Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polyda...	OMIM:258860
Difference Of Sex Development-Intellectual Disability Syndrome	Short neck, Kyphosis, Genu valgum, Reduced bone mineral density, Spina bifida occulta	ORPHA:2983
Progeroid Syndrome, Petty Type	Failure to thrive, Decreased skull ossification, Redundant skin, Cutis laxa	ORPHA:2963
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Postnatal growth retardation, Metaphyseal widening, Abnormal form of the vertebral ...	ORPHA:73230
Ovarian Dysgenesis 8	Eunuchoid habitus, Osteoporosis	OMIM:618187
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Micrognathia, Missing ribs, Postaxial polydactyly, Ulnar bowing, Preax...	OMIM:617866
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the o...	OMIM:252500
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalac...	ORPHA:1652
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal f...	ORPHA:175
Laron Syndrome	Severe short stature, Delayed skeletal maturation, Short long bone, Limb undergrowth, Delayed men...	OMIM:262500
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Cutis Laxa, Autosomal Dominant 3	Os odontoideum, Osteopenia, Joint laxity, Cutis laxa, Premature skin wrinkling, Dermal translucency	OMIM:616603
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Mesomelic short stature, Talipes equinovar...	OMIM:163400
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Bone pain, Decreased skull ossifica...	ORPHA:955
Autosomal Dominant Brachyolmia	Short stature, Kyphoscoliosis, Increased vertebral height, Platyspondyly, Abnormal metaphysis mor...	ORPHA:93304
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Morgagni-Stewart-Morel Syndrome	Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis, Obesity	ORPHA:77296
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Short stature, Tapered finger, Kyphosis, Obesity, Large hands, Scoliosis	ORPHA:276630
Richieri Costa-Da Silva Syndrome	Short stature, Kyphoscoliosis, Short neck, Metatarsus adductus, Limitation of joint mobility, Ver...	ORPHA:3101
Autosomal Recessive Cutis Laxa Type 2A	Pes planus, Congenital hip dislocation, Postnatal growth retardation, Wide anterior fontanel, Inc...	ORPHA:357058
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Truncal obesity, Osteoporosis, Kyphosis	OMIM:219080
Three M Syndrome 1	Pes planus, Small for gestational age, Short stature, Short neck, Hyperlordosis, Increased verteb...	OMIM:273750
Desbuquois Dysplasia 2	Short neck, Metaphyseal widening, Knee dislocation, Short phalanx of finger, Genu varum, Joint la...	OMIM:615777
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Thanatophoric Dysplasia	Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibili...	ORPHA:2655
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Failure to thrive, Osteoporosis, Rickets	OMIM:560000
Cleidocranial Dysplasia 2	Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Wide anterior font...	OMIM:620099
Catel-Manzke Syndrome	Joint laxity, Short humerus, Short metacarpal, Short femur, Micrognathia, Short neck, Postnatal g...	OMIM:616145
Camurati-Engelmann Disease, Type 2	Osteopenia, Hip contracture, Thoracolumbar scoliosis, Knee flexion contracture, Hyperostosis, Del...	OMIM:606631
Linear Verrucous Nevus Syndrome	Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Reduced bone mineral density, Scoliosis	ORPHA:2611
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Truncal obesity, Osteoporosis, Kyphosis	OMIM:610475
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Small ...	ORPHA:221016
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, Scoliosis, Failure ...	OMIM:612940
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Rhizomelia, Micrognathia, Flexion contracture, Disproportionate short ...	OMIM:222765
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp...	OMIM:300232
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short...	OMIM:611717
Renal Hypodysplasia/Aplasia 2	Redundant skin	OMIM:615721
Aromatase Deficiency	Osteopenia, Eunuchoid habitus, Delayed epiphyseal ossification, Delayed skeletal maturation, Oste...	ORPHA:91
Hypercholanemia, Familial, 2	Osteopenia	OMIM:619256
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Osteoporosis, Obesity, Facial erythema, Abdominal obesity, Biconcave vertebral bodies, ...	OMIM:219090
Osteootohepatoenteric Syndrome	Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Weight loss, Reduced bo...	OMIM:619377
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Severe short stature, Micromelia, Micrognathia, Bowing of the legs, Hypoplastic...	ORPHA:1865
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t...	OMIM:183900
Prader-Willi Syndrome	Osteopenia, Syndactyly, Failure to thrive in infancy, Short stature, Kyphosis, Acromicria, Osteop...	OMIM:176270
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Short stature, Kyphoscoliosis, Hip dislocation, Limb undergrowth, Intrauterine growth...	OMIM:618005
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Short sta...	OMIM:300998
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Abnorm...	ORPHA:2636
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Disproportio...	ORPHA:583
Acrocephalopolydactyly	Genu recurvatum, Short neck, Short long bone, Limb undergrowth, Brachydactyly	ORPHA:221054
Seizures-Scoliosis-Macrocephaly Syndrome	Overlapping toe, Scoliosis, Reduced bone mineral density	ORPHA:466926
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Short stature, Kyphosis, Hip dislocation, Obesity, Talipes equinovarus, Sco...	OMIM:616756
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
Xp21 Deletion Syndrome	Joint laxity, Osteoporosis, Reduced bone mineral density, Finger clinodactyly, Calf muscle hypert...	ORPHA:261476
Indolent Systemic Mastocytosis	Pruritus, Osteoporosis, Maculopapular exanthema, Skin rash	ORPHA:98848
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Short stature, Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, ...	OMIM:612847
Weaver Syndrome	Camptodactyly of finger, Redundant skin, Joint stiffness, Joint hyperflexibility, Scoliosis	ORPHA:3447
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Micrognathia, Postnatal growth retardation, Wide anterior fontanel, Ulnar...	OMIM:619135
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wide...	OMIM:613091
Mitochondrial Complex I Deficiency, Nuclear Type 30	Redundant skin	OMIM:301021
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Joint stiffness, Abnormality of the humerus, Absent th...	ORPHA:392
Nasu-Hakola Disease	Bone cyst, Bone pain, Limitation of joint mobility, Reduced bone mineral density, Abnormal epiphy...	ORPHA:2770
Ehlers-Danlos Syndrome, Hypermobility Type	Joint laxity, Striae distensae, Osteoarthritis, Hyperextensible skin, Soft skin, Joint hypermobility	OMIM:130020
Peroxisome Biogenesis Disorder 3B	Failure to thrive, Osteoporosis	OMIM:266510
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Severe short stature, Micromelia, Increased skull ossificatio...	ORPHA:1422
Schaaf-Yang Syndrome	Failure to thrive in infancy, Rocker bottom foot, Short stature, Tapered finger, Kyphosis, Flexio...	OMIM:615547
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Micromelia, Dumbbell-shaped long bone, Hypoplas...	ORPHA:3144
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Jeune Syndrome	Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Abnormal rib morphology, P...	ORPHA:474
Hypercholanemia, Familial 1	Failure to thrive, Rickets	OMIM:607748
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v...	OMIM:228520
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Scoliosis, Talipes equinovarus, Joint hypermobility, Increased susceptibility to fractures	OMIM:619752
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Mohr-Tranebjaerg Syndrome	Increased susceptibility to fractures	OMIM:304700
Intellectual Developmental Disorder, Autosomal Dominant 53	Growth delay, Short femur, Joint hypermobility, Genu valgum	OMIM:617798
Aggressive Systemic Mastocytosis	Bone pain, Osteoporosis, Osteolysis, Weight loss, Pathologic fracture	ORPHA:98850
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Joint hypermobility, Kyphosis, Osteoporosis, Scoliosis, Delayed puberty, Bicoronal sy...	OMIM:619718
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Severe short stature, Talipes, Severe generalized osteoporosis, Micrognathia, Ky...	OMIM:210730
Niemann-Pick Disease, Type A	Failure to thrive, Osteoporosis, Short stature	OMIM:257200
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Flexion contracture, Neonatal death, Intrauterine growth retardation, Failure to thrive	OMIM:618237
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Osteoporosis, Increased body weight	OMIM:615830
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Mesomelia, Brachydactyly, Micrognathia	ORPHA:1277
Adamantinoma	Pathologic fracture, Bone pain	ORPHA:55881
Prader-Willi Syndrome	Osteopenia, Short stature, Osteoporosis, Small hand, Increased susceptibility to fractures, Short...	ORPHA:739
Occipital Horn Syndrome	Joint laxity, Pes planus, Short humerus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusio...	OMIM:304150
Cerebrooculofacioskeletal Syndrome 4	Failure to thrive in infancy, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Kyphosco...	OMIM:610758
Premature Aging Syndrome, Okamoto Type	Osteoporosis	OMIM:601811
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bones, Aplastic ...	ORPHA:50945
Grange Syndrome	Syndactyly, Recurrent fractures, Increased susceptibility to fractures, Finger clinodactyly, Decr...	OMIM:602531
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly,...	OMIM:206920
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Masa Syndrome	Short stature, Hyperlordosis, Kyphosis, Talipes equinovarus, Pes cavus, Adducted thumb	OMIM:303350
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures, Short stature	OMIM:268315
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morphology, Cor...	ORPHA:1328
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Micrognathia, Bowing of the legs, Short neck, Knee flexion contracture, Abnormal calc...	OMIM:271665
Epiphyseal Dysplasia, Baumann Type	Joint laxity, Pes planus, Epiphyseal dysplasia, Hypoplasia of the femoral head, Marked delay in b...	OMIM:610797
Amish Lethal Microcephaly	Decreased skull ossification, Osteoporosis, Limitation of joint mobility, Micrognathia	ORPHA:99742
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Small hand, C...	ORPHA:3121
Congenital Disorder Of Glycosylation, Type Ir	Osteopenia, Failure to thrive, Accelerated skeletal maturation	OMIM:614507
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Short stature, Micrognathia, Postnatal growth retardation, Wide anterio...	OMIM:225410
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Kyphoscoliosis, Postaxial hand p...	ORPHA:65759
Marinesco-Sjogren Syndrome	Pes planus, Short metacarpal, Short stature, Coxa valga, Kyphosis, Flexion contracture, Short met...	OMIM:248800
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Clinoda...	ORPHA:178148
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Brachydactyly, Multiple joint contractures, Small for gestational age, Thoracic scoli...	ORPHA:2959
Intellectual Developmental Disorder, Autosomal Dominant 26	Small for gestational age, Short stature, Micrognathia, Kyphosis, Scoliosis, Clinodactyly of the ...	OMIM:615834
Classic Homocystinuria	Arachnodactyly, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Genu valgum, Scoliosis	ORPHA:394
Classic Galactosemia	Osteoporosis, Delayed puberty, Reduced bone mineral density	ORPHA:79239
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Hip dysplasia, Failure to thrive, Short stature	OMIM:620007
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph...	OMIM:184100
Shox-Related Short Stature	Short stature, Micrognathia, Short neck, Obesity, Genu valgum, Short foot, Tibial bowing, Forearm...	ORPHA:314795
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal form of t...	ORPHA:3429
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Pes cavus, Talipes equinovarus, Scoliosis	OMIM:617087
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl...	OMIM:601356
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Flexion contracture, Osteoporosis, Elbow flexion contracture, Cutis laxa, Excessive w...	OMIM:614438
Cutis Laxa-Marfanoid Syndrome	Limitation of joint mobility, Flexion contracture, Redundant skin	ORPHA:171719
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Short neck, Delayed skeletal maturation, Small hand, Abnormal rib morphology, Short f...	ORPHA:488434
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Eunuchoid habitus, Generalized joint laxity, Delayed skeletal maturation, Osteoporosi...	ORPHA:432
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Osteoporosis, Obesity, Small hand, Short foot, Abdominal obesity, Hip dysplasia, Scol...	ORPHA:398079
Thanatophoric Dysplasia Type 2	Short stature, Micromelia, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platys...	ORPHA:93274
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Hyperextensible skin	OMIM:619764
Roifman Syndrome	Hip contracture, Epiphyseal dysplasia, Biconvex vertebral bodies, Short stature, Postnatal growth...	ORPHA:353298
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Short stature, Micrognathia, Postnatal growth retardation, Small hand,...	ORPHA:96184
15Q24 Microdeletion Syndrome	Joint laxity, Small for gestational age, Short stature, Proximal placement of thumb, Abnormal thu...	ORPHA:94065
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Growth delay, Failure to thrive, Rickets	OMIM:602722
Cutis Laxa, Autosomal Recessive, Type Iiia	Cutis laxa, Hyperextensible skin, Scoliosis, Failure to thrive, Joint hypermobility	OMIM:219150
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Congenital hip dislocation, Multiple joint contractures, Overlapping fingers, Femu...	OMIM:618291
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Avas...	ORPHA:83451
Tyrosinemia Type 1	Rickets of the lower limbs	ORPHA:882
Cutis Laxa, Autosomal Recessive, Type Iia	Redundant skin, Cutis laxa, Excessive wrinkled skin, Scoliosis, Failure to thrive, Joint hypermob...	OMIM:219200
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Short stature, Hip d...	ORPHA:85170
Acth-Independent Macronodular Adrenal Hyperplasia 2	Abdominal obesity, Osteoporosis, Increased body weight	OMIM:615954
Rahman Syndrome	Redundant skin, Kyphoscoliosis, Camptodactyly	OMIM:617537
Contractural Arachnodactyly, Congenital	Osteopenia, Micrognathia, Short neck, Knee flexion contracture, Wrist flexion contracture, Arachn...	OMIM:121050
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Arachnodactyly, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Scoliosis, Adducted thumb	ORPHA:2181
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Genu recurvatum, Short neck, Flexion contracture, Tibial bowing, Knee disl...	OMIM:143095
Severe Congenital Nemaline Myopathy	Multiple prenatal fractures, Flexion contracture, Thin ribs, Arthrogryposis multiplex congenita, ...	ORPHA:171430
Craniofaciofrontodigital Syndrome	Osteopenia, Joint laxity, Large for gestational age, Osteoporosis, Cutis laxa, Scoliosis, Finger ...	ORPHA:363705
Congenital Disorder Of Glycosylation, Type Iq	Failure to thrive, Dry skin, Eczema, Cutis laxa	OMIM:612379
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Joint hyperflexibility, Scoliosis	ORPHA:2314
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Vertebral segmentation defect, Rhizomel...	OMIM:611209
Intermediate Nemaline Myopathy	Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture	ORPHA:171433
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Short stature, Kyphosis, Flexion contracture, Osteoporosis, Increased body weight, Sm...	ORPHA:398069
Autism Spectrum Disorder Due To Auts2 Deficiency	Small for gestational age, Short stature, Micrognathia, Abnormal foot morphology, Kyphosis, Conge...	ORPHA:352490
Propionic Acidemia	Failure to thrive, Osteoporosis, Short stature	OMIM:606054
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Joint laxity, Pes planus, Sandal gap, Short stature, Kyphosis, Small hand, Short foot, Abdominal ...	OMIM:300354
Campomelia, Cumming Type	Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Abnormal rib morphology, Clu...	ORPHA:1318
Dysmorphism-Cleft Palate-Loose Skin Syndrome	Redundant skin	ORPHA:1779
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Short thumb, Hypoplasia of...	ORPHA:3258
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Small for gestational age, Short stature, Osteoporosis, Obesity, Pedal edema, Small h...	ORPHA:98754
Cdkl5-Deficiency Disorder	Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Growth delay, Scoliosis	ORPHA:505652
Hyperzincemia With Functional Zinc Depletion	Osteoporosis	OMIM:601979
Paget Disease Of Bone 6	Osteoarthritis, Bone pain, Recurrent fractures	OMIM:616833
Flynn-Aird Syndrome	Cachexia, Joint stiffness, Kyphosis, Bone cyst, Scoliosis	ORPHA:2047
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Truncal obesity, Osteoporosis, Kyphosis	OMIM:610489
Fibrochondrogenesis	Hypoplastic scapulae, Short stature, Camptodactyly of finger, Micromelia, Short neck, Wide anteri...	ORPHA:2021
Estrogen Resistance Syndrome	Osteopenia, Delayed epiphyseal ossification, Osteoporosis, Marked delay in bone age	ORPHA:785
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Limb joint contracture, Small for gestational age, Coxa valga, Achill...	ORPHA:404454
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Osteoporosis, Rickets, L...	ORPHA:2671
Fibrinolytic Defect	Hyperextensible skin	OMIM:134900
Arthrogryposis, Distal, Type 3	Decreased hip abduction, Congenital hip dislocation, Camptodactyly of finger, Overlapping toe, Mi...	OMIM:114300
Gaucher Disease, Type I	Bone pain, Pathologic fracture, Vertebral compression fracture, Avascular necrosis, Erlenmeyer fl...	OMIM:230800
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Short stature, Joint stiffness, Postnatal growth retardation, Reduced bone mineral density, Joint...	OMIM:620210
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Short stature, Small for gestational age, Fifth finger distal phalanx clinodactyly, Postnatal gro...	ORPHA:3369
Chst3-Related Skeletal Dysplasia	Short metacarpal, Rhizomelia, Kyphoscoliosis, Flexion contracture, Disproportionate short-trunk s...	ORPHA:263463
Thrombocytopenia 6	Myelofibrosis, Osteoporosis	OMIM:616937
Man1B1-Cdg	Truncal obesity, Joint hypermobility, Cutis laxa, Short neck	ORPHA:397941
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscol...	ORPHA:3041
Dyskeratosis Congenita, Autosomal Dominant 3	Short stature, Avascular necrosis of the capital femoral epiphysis, Osteoporosis, Growth delay, I...	OMIM:613990
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Mesomelia, Broad thumb, Brachydactyly	ORPHA:171866
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia	OMIM:218550
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Pes planus, Short metacarpal, Ivory epiphyses of the distal phalanges of the hand, Sw...	OMIM:190350
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Small for gestational age, Short stature, Osteoporosis, Obesity, Pedal edema, Small h...	ORPHA:98793
Cardiofaciocutaneous Syndrome 3	Short stature, Short neck, Reduced bone mineral density, Scoliosis, Failure to thrive	OMIM:615279
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat...	OMIM:108721
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th...	ORPHA:2502
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Brachydactyly, Short stature, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short d...	ORPHA:1858
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Small for gestational age, Short stature, Osteoporosis, Obesity, Pedal edema, Small h...	ORPHA:177904
Mccune-Albright Syndrome	Recurrent fractures, Osteomalacia, Accelerated skeletal maturation, Fibrous dysplasia of the bone...	ORPHA:562
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Nar...	ORPHA:508533
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Small for gestational age, Short stature, Osteoporosis, Obesity, Pedal edema, Small h...	ORPHA:177901
Myofibrillar Myopathy 10	Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract...	OMIM:619040
Werner Syndrome	Low back pain, Osteoporosis, Short stature, Reduced bone mineral density	OMIM:277700
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler...	ORPHA:793
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti...	ORPHA:79345
Werner Syndrome	Increased bone mineral density, Short stature, Rocker bottom foot, Joint stiffness, Small hand, O...	ORPHA:902
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Gm1 Gangliosidosis	Short stature, Camptodactyly of finger, Joint stiffness, Hyperlordosis, Kyphosis, Abnormal form o...	ORPHA:354
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Abnormal vertebral ...	ORPHA:280
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Osteopenia, Metaphyseal dysplasia, Severe short stature, Micrognathia, Short neck, Scoliosis, Dec...	OMIM:618336
Lowry-Maclean Syndrome	Osteopenia, Craniosynostosis, Micrognathia, Osteoporosis, Growth delay, Intrauterine growth retar...	ORPHA:2409
Cardiac Valvular Dysplasia, X-Linked	Joint laxity, Joint stiffness, Cutis laxa	OMIM:314400
Beta-Thalassemia Intermedia	Osteopenia, Increased susceptibility to fractures, Osteoporosis, Reduced bone mineral density	ORPHA:231222
Amyloidosis, Finnish Type	Cutis laxa	OMIM:105120
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormal metacarpophalangeal joint morphology, Joint stiffness, Osteoporosis, Weight loss, Arthri...	ORPHA:465508
Pde4D Haploinsufficiency Syndrome	Micrognathia, Accelerated skeletal maturation, Short metatarsal, Irregular vertebral endplates, B...	ORPHA:439822
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short stature, Short neck, Micrognathia, Hyperlordosis, Kyphosis, Abnormal rib morphology, Fused ...	ORPHA:2522
Autosomal Recessive Spastic Paraplegia Type 53	Joint hyperflexibility, Failure to thrive, Kyphosis	ORPHA:319199
Ullrich Congenital Muscular Dystrophy 1	Joint laxity, Spinal rigidity, Distal joint laxity, Kyphosis, Flexion contracture, Hip dislocatio...	OMIM:254090
Fountain Syndrome	Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Brachydactyly, Metaphyseal dyspl...	ORPHA:3219
46,Xx Gonadal Dysgenesis	Osteopenia, Arachnodactyly, Short stature, Delayed skeletal maturation, Reduced bone mineral dens...	ORPHA:243
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Bone pa...	ORPHA:667
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Congenital Disorder Of Glycosylation, Type Iir	Cutis laxa	OMIM:301045
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hyperlordosis, Spinal rigidity, Accelerated skeletal maturation, Flexion contracture,...	OMIM:613327
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Short stature, Camptodactyly of finger, Osteomalacia, Postnatal growth retarda...	OMIM:309000
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Pes planus, Short femur, Short stature, Talipes, Micrognathia, Short neck, Talipes equinovarus, B...	OMIM:300990
Omodysplasia 2	Short humerus, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Limited elbow flexion/e...	OMIM:164745
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Short stature, Tapered finger, Micrognathia, Kyphosis, Joint hyperflexibility, Scolio...	ORPHA:2479
Hamamy Syndrome	Osteopenia, Syndactyly, Long toe, Recurrent fractures, Craniosynostosis, Micrognathia, Tapered fi...	OMIM:611174
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Pes planus, Thoracic scoliosis, Thoracic kyphoscoliosis, Distal joint laxity, General...	ORPHA:1900
Senior-Loken Syndrome 9	Osteopenia, Polydactyly, Hypoplasia of the femoral head, Obesity	OMIM:616629
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o...	OMIM:114290
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hyperextensible skin	OMIM:615937
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Failure to thrive, Rickets, Short stature	OMIM:211600
Perrault Syndrome 4	Osteoporosis, Obesity	OMIM:615300
Celiac Disease, Susceptibility To, 1	Short stature, Postnatal growth retardation, Osteoporosis, Rickets, Weight loss, Delayed puberty,...	OMIM:212750
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture	OMIM:616867
Farber Disease	Abnormality of the knee, Short stature, Abnormal foot morphology, Short toe, Flexion contracture,...	ORPHA:333
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn...	OMIM:227270
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Lumbar hyperlordosis, Kyphosis, Osteoporosis, Growth delay, Triphalangeal thumb, Dela...	ORPHA:2232
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Pes planus, Congenital hip dislocation, Arachnodactyly, Protrusio aceta...	OMIM:225400
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polydactyly, Short metatars...	OMIM:617102
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Abnormal odontoid process mor...	OMIM:277300
Mccune-Albright Syndrome	Craniofacial hyperostosis, Polyostotic fibrous dysplasia, Pathologic fracture	OMIM:174800
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the...	ORPHA:1788
Arthrogryposis, Distal, Type 5	Arachnodactyly, Short stature, Limited wrist extension, Kyphosis, Absent phalangeal crease, Dista...	OMIM:108145
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Severe short stature, Joint stiffness, Kyphosis, Hip dislocation, Moderate pos...	ORPHA:1005
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Toe syndactyly, Short stature, Micrognathia, Metatarsus valgus, Aplasia/Hyp...	ORPHA:3082
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic...	ORPHA:93316
Ehlers-Danlos Syndrome, Periodontal Type, 2	Hyperextensible skin, Joint hypermobility, Scoliosis	OMIM:617174
Joubert Syndrome 18	Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphoscoliosis, Ta...	OMIM:614815
6P22 Microdeletion Syndrome	Redundant skin, Short neck	ORPHA:251046
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ...	ORPHA:3312
Seckel Syndrome 1	11 pairs of ribs, Pes planus, Ivory epiphyses, Sandal gap, Abnormal finger flexion crease, Talipe...	OMIM:210600
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Short neck, Short metatarsal, Cone-shaped epiphysis, Arthritis	OMIM:613328
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Osteopenia, Hallux valgus, Small for gestational age, Micrognathia, Broad thumb, Clinodactyly, Fa...	OMIM:620194
Dyskeratosis Congenita, Autosomal Dominant 2	Failure to thrive, Short stature, Osteoporosis, Palmoplantar hyperkeratosis, Avascular necrosis	OMIM:613989
Marshall-Smith Syndrome	Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal maturation, Distal w...	OMIM:602535
Becker Nevus Syndrome	Micromelia, Lower limb asymmetry, Kyphosis, Abnormal tibia morphology, Rib fusion, Supernumerary ...	ORPHA:64755
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu...	OMIM:187600
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sco...	OMIM:617404
Adrenomyodystrophy	Delayed skeletal maturation, Failure to thrive, Short stature, Reduced bone mineral density	ORPHA:977
Spinocerebellar Ataxia-Dysmorphism Syndrome	Genu recurvatum, Short stature, Reduced bone mineral density, Joint hyperflexibility, Slender lon...	ORPHA:1185
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Hip contracture, Ankle flexion contracture, Reduced bone mineral density, Knee flexion contractur...	OMIM:620232
Xylt1-Cdg	Joint laxity, Pes planus, Short stature, Coxa valga, Accelerated skeletal maturation, Flared meta...	ORPHA:370930
Distal Renal Tubular Acidosis	Short stature, Osteomalacia, Rickets, Bone pain, Increased susceptibility to fractures, Reduced b...	ORPHA:18
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Narrow greater ...	OMIM:253220
Dominant Beta-Thalassemia	Bowing of the long bones, Failure to thrive in infancy, Osteoporosis, Genu valgum, Growth delay, ...	ORPHA:231226
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Short neck, Delayed skeletal maturation, Osteoporosis, 2-3 toe synda...	ORPHA:488632
Cranioectodermal Dysplasia 1	Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Sagittal craniosynostosis, Bro...	OMIM:218330
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, 11 pairs of ribs, Sandal gap, Short stature, Short toe, Delayed skeletal maturation, ...	OMIM:617877
Glass Syndrome	Arachnodactyly, Anterior tibial bowing, Short stature, Micrognathia, Talipes equinovarus, Camptod...	OMIM:612313
Myopathy, Centronuclear, 2	Hyperlordosis, Kyphosis, Flexion contracture, Talipes equinovarus, Scoliosis, Intrauterine growth...	OMIM:255200
Trichothiodystrophy 8, Nonphotosensitive	Eczema, Cutis laxa	OMIM:619691
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Short stature, Hyperlordosis, Kyphosis, Short toe, Delayed skeletal maturation, Obesity, Broad fo...	ORPHA:3085
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Failure to thrive, Rickets, Short stature	OMIM:611590
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Congenital hip dislocation, Kyphosis, Scoliosis, Disloca...	OMIM:619797
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Short neck, Kyphos...	ORPHA:958
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Small for gestational age, Short stature, Kyphoscoliosis, Micrognathi...	OMIM:268400
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Short metacarpal, Brachydactyly, Small for gestational age, Rhizomelia, Hypoplastic s...	OMIM:614813
Hallermann-Streiff Syndrome	Recurrent fractures, Proportionate short stature, Micrognathia, Small hand, Reduced bone mineral ...	ORPHA:2108
Blount Disease	Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the...	ORPHA:2768
Familial Isolated Hyperparathyroidism	Osteopenia, Generalized osteoporosis	ORPHA:99879
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Short stature, Kyphosis, Split hand, Obesity, Areflexia of lower limbs, Scoliosis, Pes cavus	OMIM:618124
8Q24.3 Microdeletion Syndrome	Thoracic scoliosis, Congenital hip dislocation, Micromelia, Short neck, Finger clinodactyly, Clin...	ORPHA:508488
Paget Disease Of Bone 3	Fractures of the long bones, Bone pain, Osteolysis, Patchy osteosclerosis	OMIM:167250
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Me...	OMIM:618476
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Short stature, Micromelia, Abnormal thumb morphology, Small hand...	ORPHA:1597
Momo Syndrome	Short stature, Large for gestational age, Short neck, Obesity, Femoral bowing, Large hands, Short...	ORPHA:2563
Congenital Disorder Of Glycosylation, Type Iib	Hand clenching, Overlapping fingers, Thoracic scoliosis, Recurrent fractures	OMIM:606056
Alg8-Cdg	Small for gestational age, Cutis laxa, Camptodactyly, Premature skin wrinkling, Failure to thrive	ORPHA:79325
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification, Flexion co...	OMIM:616007
Sickle Cell Anemia	Avascular necrosis, Osteomyelitis, Osteoporosis	ORPHA:232
Kallmann Syndrome	Pes planus, Recurrent fractures, Delayed skeletal maturation, Obesity, Reduced bone mineral densi...	ORPHA:478
Lathosterolosis	Toe syndactyly, Micrognathia, Lumbosacral meningocele, Postaxial hand polydactyly, Osteoporosis, ...	OMIM:607330
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Kinsship Syndrome	Osteopenia, Pes planus, Sacral dimple, Short stature, Micrognathia, Coxa valga, Short neck, Hip d...	OMIM:619297
Cartilage-Hair Hypoplasia	Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Absent pubertal growth spurt, Flaring ...	OMIM:250250
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Short neck, Kyphosis, Small hand, Short foot, Growth delay, Scoliosis...	ORPHA:238750
Brachyolmia Type 3	Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Childhood-onset short-trunk shor...	OMIM:113500
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Short stature, Delayed skeletal maturation, Osteoporosis, Growth delay, Delayed puberty	ORPHA:2326
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Pes planus, Cachexia, Joint stiffness, Micrognathia, Abnormality of the lower limb, Flexion contr...	ORPHA:1979
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Increased susceptibility to fractures	ORPHA:216866
Stickler Syndrome, Type I	Arachnodactyly, Micrognathia, Joint stiffness, Kyphosis, Osteoarthritis, Irregular femoral epiphy...	OMIM:108300
Hemochromatosis, Type 1	Osteoporosis	OMIM:235200
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Postnatal growth retardation, Hemi...	OMIM:302960
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Sti...	OMIM:119800
Gaucher Disease Type 3	Increased bone mineral density, Delayed skeletal maturation, Bone pain, Osteolysis, Increased sus...	ORPHA:77261
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Joint hyperflexibility, Kyphosis	ORPHA:1875
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Cutis laxa	OMIM:614100
Gm1-Gangliosidosis, Type Iii	Short stature, Kyphosis, Flared iliac wing, Platyspondyly, Anterior beaking of lumbar vertebrae, ...	OMIM:230650
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Short stature, Microgna...	OMIM:618150
Scarf Syndrome	Craniosynostosis, Short neck, Abnormal form of the vertebral bodies, Cutis laxa, Joint hyperflexi...	ORPHA:3134
Crisponi Syndrome	Camptodactyly of finger, Micrognathia, Kyphosis, Flexion contracture, Limitation of joint mobilit...	ORPHA:1545
Cranioectodermal Dysplasia 4	Joint hypermobility, Sagittal craniosynostosis, Cutis laxa	OMIM:614378
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Small ...	ORPHA:221008
Camurati-Engelmann Disease	Increased bone mineral density, Diaphyseal sclerosis, Genu valgum, Cortical thickening of long bo...	OMIM:131300
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Metaphyseal chondrodysplasia, Large knee, Reduced bone mineral density	ORPHA:83629
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Abdominal obesity, Osteoporosis, Increased body weight, Increased susceptibility to fractures	ORPHA:189427
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Micrognathia, Missi...	OMIM:200980
Fanconi-Bickel Syndrome	Osteopenia, Bowing of the long bones, Rickets, Growth delay, Failure to thrive	ORPHA:2088
Singleton-Merten Syndrome 2	Osteopenia, Short stature, Scoliosis, Osteolytic defects of the phalanges of the hand	OMIM:616298
X-Linked Intellectual Disability, Cabezas Type	Toe syndactyly, Sandal gap, Camptodactyly of finger, Cachexia, Down-sloping shoulders, Short neck...	ORPHA:85293
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha...	OMIM:250220
Menkes Disease	Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Micrognathia, Os...	ORPHA:565
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Short...	ORPHA:2311
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Multiple rib fractures, Femur fracture, Growth delay, Osteop...	OMIM:612301
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Metaphyseal dysplasia, Kyphoscoliosis, Coxa valga, Disproportionate short s...	OMIM:617425
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Pes planus, Congenital hip dislocation, Arachnodactyly, Congenital kyphoscoliosis, Ky...	ORPHA:536545
Familial Papillary Or Follicular Thyroid Carcinoma	Bone pain, Recurrent fractures	ORPHA:319487
Cousin Syndrome	Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th...	OMIM:260660
Lysinuric Protein Intolerance	Recurrent fractures, Increased circulating ferritin concentration, Osteoporosis, Intraalveolar ph...	OMIM:222700
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Hip contracture, Radial deviation of the hand, Short stature, Rocker bottom fo...	OMIM:301041
Silver-Russell Syndrome 3	Syndactyly, Small for gestational age, Elbow contracture, Short stature, Postnatal growth retarda...	OMIM:616489
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Failure to thrive, Bowing of the long bones, Camptodactyly of fin...	ORPHA:90652
Glycerol Kinase Deficiency	Small for gestational age, Short stature, Osteoporosis, Growth delay, Pathologic fracture	OMIM:307030
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty...	OMIM:276820
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Sacral dimple, Short stature, Kyphoscoliosis, Micrognathia, Partial duplication of...	OMIM:616331
Refractory Celiac Disease	Inflammatory abnormality of the skin, Osteoporosis, Weight loss, Hypoalbuminemia, Hypoproteinemia	ORPHA:398063
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Redundant neck skin, Redundant skin, Generalized joint laxity, Cutis laxa, Excessive wrinkled ski...	ORPHA:357074
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Joint stiffness, Avascular necrosis of the capital femoral epiphysis, ...	ORPHA:581
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Elbow contracture, 2-3 toe syndactyly, Knee flexion contracture, Irregular epiphyses,...	OMIM:618162
Wilson Disease	Back pain, Bone pain, Increased body weight, Weight loss, Arthritis, Pathologic fracture, Failure...	ORPHA:905
Cerebrotendinous Xanthomatosis	Osteopenia, Abnormality of the vertebral spinous processes, Abnormal tibia morphology, Osteoporos...	ORPHA:909
Slc39A8-Cdg	Osteopenia, Failure to thrive in infancy, Short stature, Craniosynostosis, Elbow flexion contract...	ORPHA:468699
Beta-Thalassemia Major	Bowing of the long bones, Failure to thrive in infancy, Osteoporosis, Genu valgum, Growth delay, ...	ORPHA:231214
X-Linked Intellectual Disability, Snyder Type	Long toe, Arachnodactyly, Recurrent fractures, Kyphoscoliosis, Short stature, Kyphosis, Osteoporo...	ORPHA:3063
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d...	OMIM:268310
Functioning Gonadotropic Adenoma	Osteopenia, Delayed skeletal maturation, Osteoporosis, Delayed puberty	ORPHA:91348
De Barsy Syndrome	Osteopenia, Kyphoscoliosis, Generalized joint laxity, Cutis laxa, Excessive wrinkled skin, Failur...	ORPHA:2962
Harrod Syndrome	Arachnodactyly, Kyphosis, Abnormal shoulder morphology, Joint hyperflexibility, Abnormal pelvic g...	ORPHA:2115
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Arachnodactyly, Camptodactyly of finger, Short stature, Kyphosis, Joint contracture of the 5th fi...	ORPHA:1883
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Flexion contracture, Growth delay, Polydactyly, Failure to thrive	ORPHA:17
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Proportionate short stature, Short toe, Obesity, Cone-shaped epiphyses of the phalang...	OMIM:619269
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Micrognathia, Coxa valg...	ORPHA:263508
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Congenital hip dislocation, Limited elbow movement, Kyphoscoliosis, Kyphosis, Tali...	OMIM:300280
Systemic Mastocytosis With Associated Hematologic Neoplasm	Bone pain, Weight loss, Osteoporosis, Increased susceptibility to fractures	ORPHA:98849
Post-Traumatic Pituitary Deficiency	Osteopenia, Delayed skeletal maturation, Growth delay, Delayed puberty, Osteoporosis of vertebrae	ORPHA:95619
Pseudoleprechaunism Syndrome, Patterson Type	Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyphoscoliosis, Metaphy...	ORPHA:2976
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Talipes, Flexion contracture, Limb undergrowth, Intrauterine growth re...	ORPHA:79243
Microcephalic Primordial Dwarfism, Dauber Type	Short stature, Delayed skeletal maturation, Abnormal carpal morphology, Obesity, Severe postnatal...	ORPHA:319675
Hypophosphatemic Rickets And Hyperparathyroidism	Short stature, Bone pain, Rickets, Hypophosphatemic rickets, Rachitic rosary	OMIM:612089
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Joint laxity, Multiple joint contractures, Spinal rigidity, Overweight, Abnormal elasticity of sk...	ORPHA:486815
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Short stature, Recurrent fractures, Joint hypermobility	OMIM:619120
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Reduced bone mineral density, Vertebr...	ORPHA:2911
Neuropathy, Hereditary Sensory And Autonomic, Type V	Low back pain, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to inju...	OMIM:608654
Dyskeratosis Congenita	Short stature, Recurrent fractures, Osteoporosis, Palmoplantar keratoderma, Scoliosis, Intrauteri...	ORPHA:1775
Subaortic Stenosis-Short Stature Syndrome	Short stature, Micrognathia, Short neck, Kyphosis, Obesity, Scoliosis, Synostosis of carpal bones	ORPHA:3191
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora...	OMIM:304120
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Sandal gap, Postaxial polydactyly, Lower limb asymmetry, Micrognathia, Hyperlordos...	OMIM:615761
Short Stature With Microcephaly And Distinctive Facies	Osteopenia, Microretrognathia, Syndactyly, Brachydactyly, Small for gestational age, Severe short...	OMIM:615789
9Q21.13 Microdeletion Syndrome	Talipes, Craniosynostosis, Postnatal growth retardation, Hip dysplasia, Vertebral segmentation de...	ORPHA:531151
Musculocontractural Ehlers-Danlos Syndrome	Recurrent skin infections, Cervical kyphosis, Kyphoscoliosis, Redundant skin, Craniosynostosis, G...	ORPHA:2953
Paternal Uniparental Disomy Of Chromosome 1	Short stature, Recurrent fractures, Craniosynostosis, Obesity, Delayed puberty	ORPHA:251004
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Dry skin, Scaling skin, Cutis laxa	ORPHA:2269
Kagami-Ogata Syndrome	Kyphoscoliosis, Micrognathia, Coxa valga, Long fingers, Flexion contracture, Thin ribs, Limb unde...	OMIM:608149
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Tapered finger	OMIM:618512
Typical Nemaline Myopathy	Micrognathia, Short neck, Hyperlordosis, Kyphosis, Flexion contracture, Hip dislocation, Spinal r...	ORPHA:171436
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Short stature, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnormal fo...	ORPHA:2916
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Recurrent fractures	ORPHA:97290
Multiple Myeloma	Osteopenia, Bone pain, Weight loss, Pathologic fracture, Vertebral compression fracture	ORPHA:29073
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Free Sialic Acid Storage Disease	Abnormal foot morphology, Failure to thrive in infancy, Reduced bone mineral density	ORPHA:834
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Short stature, Micrognathia, Short tibia, Adactyly, Broad first ...	ORPHA:2751
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Aicardi-Goutieres Syndrome 9	Osteoporosis, Weight loss, Scoliosis, Intrauterine growth retardation, Failure to thrive	OMIM:619487
19P13.12 Microdeletion Syndrome	Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Short neck, Kyphosis, Obesity,...	ORPHA:254346
Familial Dysautonomia	Recurrent fractures, Osteolysis, Growth delay, Scoliosis, Avascular necrosis	ORPHA:1764
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Pes planus, Hyperlordosis, Kyphosis, Hip ...	OMIM:617821
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Weight loss, Growth delay	ORPHA:309031
Hyperparathyroidism, Neonatal Severe	Failure to thrive, Recurrent fractures, Metaphyseal irregularity	OMIM:239200
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Short stature, Coxa valga, Osteoporosis, Hip dis...	OMIM:182250
Wieacker-Wolff Syndrome	Short stature, Proximal placement of thumb, Micrognathia, Short neck, Hyperlordosis, Kyphosis, Hi...	OMIM:314580
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Eunuchoid habitus, Arachnodactyly, Delayed skeletal maturation, Thin metacarpal corti...	ORPHA:2463
H Syndrome	Hallux valgus, Pes planus, Short stature, Recurrent fractures, Delayed skeletal maturation, Osteo...	ORPHA:168569
Marden-Walker Syndrome	Arachnodactyly, Micrognathia, Short neck, Kyphosis, Postnatal growth retardation, Wide anterior f...	OMIM:248700
Hypomelanosis Of Ito	Syndactyly, Kyphosis, Hand polydactyly, Scoliosis, Radial deviation of finger, Clinodactyly	OMIM:300337
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Kyphoscoliosis, Atlantoaxial instability, Cutis laxa, Hyperextensible skin, Soft skin	OMIM:614557
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Postnatal growth retardation, Osteoporosis, Increased body weight, Short stature	ORPHA:79240
Weaver Syndrome	Short fourth metatarsal, Accelerated skeletal maturation, Calcaneovalgus deformity, Hypoplastic i...	OMIM:277590
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Wide anterior fontanel, Disprop...	OMIM:616482
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Talipes calcaneovalgu...	OMIM:265000
Hurler Syndrome	Hypoplasia of the femoral head, Short stature, Joint stiffness, Coxa valga, Hypoplasia of the odo...	OMIM:607014
Image Syndrome	Metaphyseal dysplasia, Micromelia, Intrauterine growth retardation	ORPHA:85173
Macrocephaly/Autism Syndrome	Joint laxity, Large for gestational age, Obesity, Cutis laxa	OMIM:605309
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Osteopenia, Short stature, Ectrodactyly, Delayed puberty, Clinodactyly	OMIM:147950
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Sandal gap, Camptodactyly of finger, Joint hypermobility, Micrognathia, Rocker bot...	OMIM:619951
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Delayed skeletal maturation, Disproportionate short stature, Coxa vara, Joint hyperfl...	ORPHA:2637
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
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Short stature, Osteoporosis, Increased body weight, Growth delay, Delayed puberty, Failure to thrive	ORPHA:264580
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ...	ORPHA:2879
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Short stature, Bowing of the legs, Hypoplastic ilia, Kyphosis, Disproporti...	ORPHA:1855
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Joint hypermobility, Joint stiffness, Postnatal growth retardation, Short long ...	OMIM:619184
Hereditary Sensory And Autonomic Neuropathy Type 1	Limb pain, Pathologic fracture, Osteomyelitis	ORPHA:36386
Pelger-Huet Anomaly	Kyphosis, Upper limb undergrowth, Short 4th metacarpal, Polydactyly, Short 3rd metacarpal, Mild s...	OMIM:169400
Lopes-Maciel-Rodan Syndrome	Kyphosis, Small hand, Ankle clonus, Short foot, Scoliosis	OMIM:617435
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Micrognathia, Short neck, Reduced bone mineral density, Short 5th metacarpal, Hypermo...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Micrognathia, Short neck, Reduced bone mineral density, Short 5th metacarpal, Hypermo...	ORPHA:99228
Monosomy X	Osteopenia, Micrognathia, Short neck, Reduced bone mineral density, Short 5th metacarpal, Hypermo...	ORPHA:99226
Turner Syndrome	Osteopenia, Micrognathia, Short neck, Reduced bone mineral density, Short 5th metacarpal, Hypermo...	ORPHA:881
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Sandhoff Disease	Kyphosis, Failure to thrive	ORPHA:796
Sanjad-Sakati Syndrome	Short stature, Patchy osteosclerosis, Micrognathia, Postnatal growth retardation, Delayed skeleta...	ORPHA:2323
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Increased bone mineral density, Severe short stature, Aplastic clavicle, Abnor...	ORPHA:2658
Richards-Rundle Syndrome	Reduced bone mineral density, Joint stiffness	ORPHA:1399
Scarf Syndrome	Short neck, Abnormal form of the vertebral bodies, Cutis laxa, Lambdoidal craniosynostosis, Coron...	OMIM:312830
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Short metacarpal, Pes planus, Pseudoepiphyses of the metacarpals, Brac...	ORPHA:192
Marfan Syndrome	Osteopenia, Pes planus, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow ...	ORPHA:558
Cockayne Syndrome B	Severe short stature, Small for gestational age, Postnatal growth retardation, Kyphosis, Limitati...	OMIM:133540
Intellectual Disability, Buenos-Aires Type	Short stature, Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Clinodactyly...	ORPHA:3079
Cystinosis	Failure to thrive, Rickets, Short stature, Delayed puberty	ORPHA:213
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Short stature, Micromelia, Postaxial hand polydactyly, Split hand, Aplasia/Hypopla...	ORPHA:2491
Sjögren-Larsson Syndrome	Kyphosis, Short stature, Scoliosis, Joint stiffness	ORPHA:816
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Hypoplastic ischia, Micrognathia, Bowing of the legs, Abnormality of the lower limb, ...	ORPHA:313855
Porphyria, Congenital Erythropoietic	Osteopenia, Short stature, Osteolysis, Pathologic fracture, Vertebral compression fracture, Joint...	OMIM:263700
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Redundant neck skin, Redundant skin, Abnormal curvature of the vertebra...	ORPHA:90348
Blepharonasofacial Malformation Syndrome	Joint hyperflexibility, Redundant skin	ORPHA:1252
Primary Fanconi Renotubular Syndrome	Osteomalacia, Bone pain, Weight loss, Growth delay, Increased susceptibility to fractures, Hypoph...	ORPHA:3337
Phakomatosis Pigmentovascularis	Reduced bone mineral density	ORPHA:2875
Arterial Tortuosity Syndrome	Joint laxity, Soft, doughy skin, Flexion contracture, Cutis laxa, Hyperextensible skin, Scoliosis...	OMIM:208050
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Micrognathia, Postnatal growth retardation, Delayed skeletal maturation, S...	OMIM:241410
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Micrognathia, Joint sti...	ORPHA:2062
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Hypoplastic vertebral bodies, Long toe, Short stature, 2-3 toe syndactyly, Atlantoaxi...	ORPHA:3455
2Q31.1 Microdeletion Syndrome	Micrognathia, Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, C...	ORPHA:251014
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis...	OMIM:207410
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Stiff neck, Overlapping fingers, Micrognathia, Short neck, Femoral bowing, Sh...	OMIM:617022
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Short stature, Femoral retroversion, Micromelia, Kyphosis, Scoliosis	ORPHA:79107
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Small for gestational age, Short stature, Long foot, Microg...	OMIM:264090
Dietary Iron Overload Disease	Osteoporosis	ORPHA:139507
Macular Degeneration, Age-Related, 3	Hyperextensible skin, Joint hypermobility	OMIM:608895
Baralle-Macken Syndrome	Pes planus, Kyphosis, Obesity, Tapered finger	OMIM:619255
Focal Facial Dermal Dysplasia Type Iii	Abnormal sacroiliac joint morphology, Redundant skin	ORPHA:1807
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Costello Syndrome	Failure to thrive in infancy, Redundant skin, Short neck, Lack of skin elasticity, Joint hyperfle...	ORPHA:3071
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Severe short stature, Micromelia, Micrognathia, Short long bone, Talipe...	OMIM:224410
Desmosterolosis	Increased bone mineral density, Severe short stature, Talipes, Micromelia, Micrognathia, Metatars...	ORPHA:35107
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex...	ORPHA:3103
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Short stature, Early ossification of capital femoral epiphyses, Cone-shap...	OMIM:208500
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Short stature, Limited elbow movement, Limited wrist movement, Delayed skel...	OMIM:617809
Glycogen Storage Disease Ia	Short stature, Osteoporosis, Gout, Growth delay, Delayed puberty	OMIM:232200
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Failure to thrive in infancy, Periostitis, Osteolysis, Fused cervical ...	OMIM:612852
Dyskeratosis Congenita, Autosomal Recessive 1	Osteoporosis, Palmoplantar hyperkeratosis	OMIM:224230
Glutamine Deficiency, Congenital	Neonatal death, Flexion contracture, Micromelia, Camptodactyly	OMIM:610015
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, Knee flexion c...	OMIM:600920
Osteogenesis Imperfecta, Type Xx	Kyphoscoliosis, Multiple prenatal fractures, Disproportionate short-limb short stature, Intrauter...	OMIM:618644
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Micromelia	OMIM:273680
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Generalized bone demineralization, Small for gestational age, Short stature	OMIM:215250
Cerebrotendinous Xanthomatosis	Ankle clonus, Osteoporosis	OMIM:213700
Marbach-Rustad Progeroid Syndrome	Femur fracture, Short stature, Micrognathia, Reduced bone mineral density, Growth delay, Short cl...	OMIM:619322
Specific Granule Deficiency 2	Osteopenia, Failure to thrive, Hyperextensible skin	OMIM:617475
Congenital Varicella Syndrome	Intrauterine growth retardation, Micromelia	ORPHA:291
Acromelic Frontonasal Dysostosis	Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta...	OMIM:603671
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Short fourth metatarsal, Overlapping toe, Short stature, Kyphosis, Bilateral camptodactyly, Growt...	OMIM:619557
Congenital Bile Acid Synthesis Defect Type 2	Postnatal growth retardation, Failure to thrive, Rickets	ORPHA:79303
Pallister-Hall-Like Syndrome	Toe syndactyly, Short stature, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislocat...	OMIM:241800
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges...	ORPHA:420794
Cohen Syndrome	Finger syndactyly, Failure to thrive in infancy, Arachnodactyly, Sandal gap, Micrognathia, Tapere...	ORPHA:193
Lenz-Majewski Hyperostotic Dwarfism	Joint laxity, Hyperextensibility of the finger joints, Failure to thrive, Humeroradial synostosis...	OMIM:151050
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Talipes, Micrognathia, Short neck, Abnormal foot morp...	ORPHA:261318
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Cutis laxa	OMIM:610842
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia, Short stature	OMIM:134600
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Thoracic scoliosis, Sacral dimple, Redundant skin, Kyphoscoliosis, Kyphosis, Hyperext...	ORPHA:536532
Bile Acid Synthesis Defect, Congenital, 1	Failure to thrive, Rickets	OMIM:607765
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Short stature, Osteoporosis, Gout, Increased susceptibility to fractures, Growth dela...	ORPHA:79259
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Calf m...	OMIM:606612
Bohring-Opitz Syndrome	Sacral dimple, Flexion contracture, Cutis laxa, Camptodactyly, Failure to thrive	OMIM:605039
Geleophysic Dysplasia 1	Osteopenia, Short stature, Camptodactyly of finger, Joint stiffness, Coxa valga, Hypoplasia of th...	OMIM:231050
X-Linked Creatine Transporter Deficiency	Joint hyperflexibility, Redundant skin, Cachexia	ORPHA:52503
Acrofrontofacionasal Dysostosis	Short stature, Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, Short distal p...	ORPHA:1784
Dermatitis Herpetiformis	Bone pain, Recurrent fractures	ORPHA:1656
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ...	OMIM:134780
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact...	OMIM:602418
Hurler-Scheie Syndrome	Short stature, Camptodactyly of finger, Micrognathia, Joint stiffness, Contracture of the distal ...	OMIM:607015
Spastic Paraplegia 53, Autosomal Recessive	Joint hyperflexibility, Kyphosis	OMIM:614898
Dpm1-Cdg	Sandal gap, Micrognathia, Knee flexion contracture, Camptodactyly, Limb undergrowth, Failure to t...	ORPHA:79322
Osteopathia Striata With Cranial Sclerosis	Failure to thrive, Paranasal sinus hypoplasia, Arachnodactyly, Short stature, Micrognathia, Thora...	OMIM:300373
Raine Syndrome	Increased bone mineral density, Bowing of the long bones, Short stature, Micromelia, Micrognathia...	OMIM:259775
Ogden Syndrome	Scoliosis, Cutis laxa	ORPHA:276432
Keppen-Lubinsky Syndrome	Micrognathia, Postnatal growth retardation, Flexion contracture, Increased susceptibility to frac...	ORPHA:435628
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Multiple prenatal fractures, Arthrogryposis multiplex congenita, Microretrognathia, Flexion contr...	OMIM:616866
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Camptodactyly of finger, Overlapping toe, Postnatal growth retardation,...	OMIM:300963
Hyperparathyroidism 4	Osteopenia	OMIM:617343
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Abnormality of the musculature of the lower limbs, Short stature, Absent pubertal growth spurt, S...	ORPHA:464282
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Autoamputation of digits, Short stature, Osteomyelitis leading to amputation due to slow healing ...	OMIM:256810
Spondyloocular Syndrome	Osteopenia, Long toe, Pes planus, Arachnodactyly, Femur fracture, Overlapping toe, Short stature,...	OMIM:605822
Melnick-Needles Syndrome	Pes planus, Short humerus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphos...	OMIM:309350
Congenital Disorder Of Deglycosylation 1	Small hand, Osteoporosis, Short foot, Scoliosis, Decreased body weight	OMIM:615273
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Microretrognathia, Sacral dimple, Toe syndactyly, Tapered finger, Osteoporosis, Growth delay, Low...	ORPHA:459070
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Truncal obesity, Scoliosis	ORPHA:2429
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets, Short stature, Large for gestational age	OMIM:616026
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Severe short stature, Arachnodactyly, Camptodactyly of finger, Tapered finger,...	ORPHA:2215
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Achilles tendon calcification, Calvarial osteosclerosis, Metacarpal periosteal thicke...	OMIM:617994
Intellectual Developmental Disorder, Autosomal Dominant 57	Pes planus, Short stature, Craniosynostosis, Kyphosis, Contracture of the proximal interphalangea...	OMIM:618050
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Short stature, Thoracolumbar scoliosis, Micrognathia, Hyperlordosis, Kyphosis, Small hand, Obesit...	OMIM:618443
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Atypical Werner Syndrome	Sclerosis of hand bone, Pes planus, Increased bone mineral density, Short palm, Short stature, Ro...	ORPHA:79474
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Down-sloping shoulders, Joint stiffness, Micrognathia, Coxa valga, Postnatal growth r...	OMIM:248370
Scapuloperoneal Spinal Muscular Atrophy	Peroneal muscle weakness, Peroneal muscle atrophy, Metatarsus adductus, Hyperlordosis, Kyphosis, ...	OMIM:181405
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density, Bone pain	OMIM:259900
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Long fibula, Reduced bone mineral density	ORPHA:935
Marfanoid Habitus With Situs Inversus	Hyperextensibility of the finger joints, Genu recurvatum, Arachnodactyly, Kyphosis, Scoliosis	OMIM:609008
Oculocerebrorenal Syndrome Of Lowe	Short stature, Recurrent fractures, Osteomalacia, Joint stiffness, Micrognathia, Kyphosis, Abnorm...	ORPHA:534
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short stature, Microme...	OMIM:614091
Gm1-Gangliosidosis, Type I	Thickened ribs, Severe short stature, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebra...	OMIM:230500
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Short stature, Kyphosis, Elbow flexion contracture, Obesity, Genu valgum, Finger...	OMIM:618493
Primary Hyperoxaluria	Generalized osteosclerosis, Failure to thrive, Bone pain, Recurrent fractures	ORPHA:416
Arthrochalasia Ehlers-Danlos Syndrome	Joint hyperflexibility, Hyperextensible skin, Scoliosis, Joint stiffness	ORPHA:1899
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Joint laxity, Hyperextensible skin, Petechiae, Striae distensae	OMIM:225310
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Delayed puberty, Scoliosis, Micrognathia	ORPHA:2598
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Microretrognathia, Sacral dimple, Short neck, Postnatal growth retardation, Kyphosis,...	OMIM:300966
Fibular Dimelia-Diplopodia Syndrome	Absent tibia, Sacrococcygeal teratoma	ORPHA:1757
Atypical Rett Syndrome	Kyphosis, Small hand, Short foot, Growth delay, Scoliosis	ORPHA:3095
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Short stature, Recurrent fractures, Jo...	ORPHA:355
Congenital Heart Defects And Skeletal Malformations Syndrome	Pes planus, Arachnodactyly, Sandal gap, Short stature, Kyphosis, Scoliosis, Camptodactyly, Clinod...	OMIM:617602
Distal Triplication 15Q	Arachnodactyly, Craniosynostosis, Micrognathia, Large for gestational age, Kyphosis, Flexion cont...	ORPHA:314588
Mcdonough Syndrome	Short stature, Cachexia, Micrognathia, Kyphosis, Scoliosis	ORPHA:2471
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Short stature, Postnatal growth retardation, ...	ORPHA:93325
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Overweight, Kyphosis, Flexion contracture, Small hand, Short foot, Hip dysplasia, ...	ORPHA:500055
3P25.3 Microdeletion Syndrome	Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Microg...	ORPHA:435638
3Mc Syndrome	Craniosynostosis, Hyperlordosis, Postnatal growth retardation, Hip dislocation, Limited pronation...	ORPHA:293843
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Joint laxity, Short 5th finger, Scoliosis, Acromesomelia, Tracheobronchomalacia	ORPHA:500159
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Short stature, Micrognathia, Mesomelia, Camptodactyly, Prominent finger...	OMIM:618529
Glycogen Storage Disease Ib	Short stature, Osteoporosis, Gout, Delayed puberty	OMIM:232220
Prolactinoma	Osteopenia, Osteoporosis, Delayed puberty	ORPHA:2965
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spinal rigidity...	ORPHA:98855
X-Linked Charcot-Marie-Tooth Disease Type 1	Kyphosis, Scoliosis	ORPHA:101075
Cutis Laxa, Autosomal Recessive, Type Ia	Joint laxity, Redundant skin, Cutis laxa	OMIM:219100
Craniopharyngioma	Proportionate short stature, Postnatal growth retardation, Obesity, Increased susceptibility to f...	ORPHA:54595
Acro-Renal-Ocular Syndrome	Vertebral fusion, Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Toe syndactyly...	ORPHA:959
Oculocerebral Hypopigmentation Syndrome, Preus Type	Short stature, Arachnodactyly, Abnormal hip bone morphology, Reduced bone mineral density	ORPHA:2720
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Toe syndactyly, Micrognathia, Abnormality of the lower limb, Reduced bone mine...	ORPHA:1556
Primrose Syndrome	Hip contracture, Short stature, Joint hypermobility, Metatarsus adductus, Kyphosis, Flexion contr...	OMIM:259050
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Dpagt1-Cdg	Arachnodactyly, Flexion contracture, Osteoporosis, Scoliosis, Camptodactyly, Clinodactyly, Failur...	ORPHA:86309
Immunodeficiency 49	Psoriasiform dermatitis, Cutis laxa	OMIM:617237
Alg12-Cdg	Redundant skin, Hypoalbuminemia, Scoliosis, Abnormal bone ossification, Failure to thrive, Campto...	ORPHA:79324
Faciocardiomelic Syndrome	Osteopenia, Dysharmonic bone age, Micrognathia, Large for gestational age, Cuboid-shaped vertebra...	OMIM:612731
Prolidase Deficiency	Arachnodactyly, Micrognathia, Genu valgum, Reduced bone mineral density, Palmoplantar keratoderma...	ORPHA:742
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Bowing of the legs, Short neck, Short toe, Short foot, Intrauterine growth ...	OMIM:269860
Mosaic Trisomy 9	Camptodactyly of finger, Micromelia, Micrognathia, Rocker bottom foot, Short neck, Limitation of ...	ORPHA:99776
Osteopetrosis With Renal Tubular Acidosis	Short stature, Recurrent fractures, Micrognathia, Osteopetrosis, Failure to thrive, Prominent flo...	ORPHA:2785
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Pes planus, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptod...	ORPHA:284984
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Short ...	OMIM:617895
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Sandal gap, Broad hallux, Micromelia, Short neck, Short stature, Postnatal growth ret...	OMIM:614800
Cranioectodermal Dysplasia 3	Joint laxity, Dry skin, Sagittal craniosynostosis, Cutis laxa	OMIM:614099
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Jaberi-Elahi Syndrome	Joint stiffness, Kyphosis, Talipes equinovarus, Scoliosis, Hand clenching, Failure to thrive, Joi...	OMIM:617988
17Q11 Microdeletion Syndrome	Osteopenia, Short stature, Bowing of the legs, Kyphosis, Osteoporosis, Osteolysis, Diaphyseal dys...	ORPHA:97685
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Short stature, Cachexia, Joint stiffness, Kyphosis, Scoliosis	ORPHA:702
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Short stature	ORPHA:1861
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Joint stiffness, Short neck, Hyperlordosis, Achilles tendon contracture, Kyphosis, Elb...	ORPHA:98863
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Joint laxity, Redundant skin, Cutis laxa, Tracheomalacia	OMIM:613177
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Micrognathia, Short neck, Postnatal growth retardation, Humerora...	ORPHA:3404
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Short neck, Micrognathia, Hyperlordosis, Kyphosis, Abnormal form of th...	ORPHA:2789
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Osteopenia, Pathologic fracture, Obesity	OMIM:614231
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Short stature, Tapered finger	OMIM:618367
X-Linked Ehlers-Danlos Syndrome	Joint hyperflexibility, Hyperextensible skin	ORPHA:75497
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Calf muscle hypertrophy, Elbow flexion contracture, Kyphosis	OMIM:618138
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Flexion contracture, Talipes equinovarus, Scoliosis, Neonatal death, Limb unde...	OMIM:619124
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Increased density of long bones, Short neck, Wide distal femoral metaphy...	OMIM:269150
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Short stature, Delayed skeletal maturation, Osteoporosis, Reduced bone mineral density, Delayed p...	ORPHA:90796
Cholestasis-Lymphedema Syndrome	Bone pain, Reduced bone mineral density	ORPHA:1414
Lateral Meningocele Syndrome	Vertebral fusion, Short stature, Short neck, Micrognathia, Kyphosis, Sclerosis of skull base, Sco...	OMIM:130720
Leri Pleonosteosis	Camptodactyly of finger, Joint stiffness, Abnormally straight spine, Abnormal form of the vertebr...	ORPHA:2900
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Femoral bowing, Elbow ankylosis, Abnormal vertebral morphology, Short metaca...	ORPHA:95699
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Short stature, Kyphosis, Flexion contracture, Bone cyst, Osteolysis, Abnormal fo...	ORPHA:3042
Wolf-Hirschhorn Syndrome	Micrognathia, Abnormal form of the vertebral bodies, Intrauterine growth retardation, Vertebral f...	OMIM:194190
Noonan Syndrome 8	Eczema, Large for gestational age, Short neck, Hyperextensible skin, Palmoplantar cutis laxa, Fai...	OMIM:615355
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Delayed skeletal maturation, Osteoporosis, Reduced bone mineral density, Delayed puberty, Failure...	ORPHA:168558
Loeys-Dietz Syndrome 2	Joint laxity, Syndactyly, Pes planus, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Micr...	OMIM:610168
3Mc Syndrome 1	Sacral dimple, Single interphalangeal crease of fifth finger, Postnatal growth retardation, Wide ...	OMIM:257920
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture	OMIM:603387
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Scoliosis	ORPHA:101078
Brittle Cornea Syndrome 2	Recurrent fractures, Joint hypermobility	OMIM:614170
Cdags Syndrome	Sagittal craniosynostosis, Kyphosis, Short ribs, Lambdoidal craniosynostosis, Short clavicles, Co...	OMIM:603116
Cutis Laxa, Autosomal Recessive, Type Iid	Redundant skin, Kyphoscoliosis, Cutis laxa, Camptodactyly, Joint contracture, Failure to thrive	OMIM:617403
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Delayed skeletal maturation, Osteoporosis, Reduced bone mineral density, Delayed puberty, Failure...	ORPHA:289548
Alg1-Cdg	Kyphosis, Limitation of joint mobility, Scoliosis	ORPHA:79327
Cardioacrofacial Dysplasia 2	Recurrent patellar dislocation, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot...	OMIM:619143
Emery-Dreifuss Muscular Dystrophy	Back pain, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spinal rigidity...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spinal rigidity...	ORPHA:98853
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Sacral dimple, Failure to thrive in infancy, Short stat...	ORPHA:261323
Pseudohypoparathyroidism Type 1A	Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Short stature, Short ne...	ORPHA:79443
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Severe short stature, Micromelia, Trapezoidal vertebral body, Short phalanx of ...	OMIM:600092
Exudative Vitreoretinopathy 1	Recurrent fractures	OMIM:133780
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Kyphosis, Flexion contracture, Absent Achilles reflex, Ankle clonus, Scoliosis, Pes cavus	OMIM:609541
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Short stature, Micromelia, Ulnar bowing, Aplasia/Hypoplasia of the radius, Mesomel...	ORPHA:1765
Stickler Syndrome	Arachnodactyly, Protrusio acetabuli, Cachexia, Micrognathia, Short stature, Kyphosis, Osteoarthri...	ORPHA:828
Trichorhinophalangeal Syndrome Type 2	Joint hyperflexibility, Redundant skin	ORPHA:502
Combined Oxidative Phosphorylation Deficiency 2	Redundant neck skin, Small for gestational age	OMIM:610498
Neurofibromatosis Type 1	Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Genu valgum, Slender long bone, Ab...	ORPHA:636
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Calf muscle hypertrophy, ...	OMIM:607155
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Tracheomalacia, Failure to thrive, Osteoporosis, Scoliosis	OMIM:203700
Cardiofaciocutaneous Syndrome	Failure to thrive in infancy, Redundant skin, Short neck, Excessive wrinkled skin, Hyperextensibl...	ORPHA:1340
Dyskeratosis Congenita, Autosomal Dominant 1	Osteoporosis	OMIM:127550
Fanconi-Bickel Syndrome	Postnatal growth retardation, Failure to thrive, Rickets, Osteomalacia	OMIM:227810
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Micromelia, Short neck, Failure to thrive, Adducted thumb	ORPHA:50810
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Sacral dimple, Micrognathia, Large for gestational age, Kyphosis, Wide anterior fontanel	OMIM:618272
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Small for gestational age, Short stature, Delayed skeletal maturation, ...	OMIM:613658
Mucolipidosis Type Ii	Hip contracture, Short stature, Craniosynostosis, Limited wrist movement, Postnatal growth retard...	ORPHA:576
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Small for gestational age, Short stature, Kyphosis, Positional f...	OMIM:610443
Wrinkly Skin Syndrome	Osteopenia, Kyphoscoliosis, Excessive skin wrinkling on dorsum of hands and fingers, Generalized ...	ORPHA:2834
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Pes planus, Genu recurvatum, Short stature, Kyphosis, Scoliosis, Slender build	ORPHA:364028
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Short stature, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short lon...	OMIM:615503
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger	ORPHA:88628
Mgat2-Cdg	Osteopenia, Kyphosis, Scoliosis, Failure to thrive, Brachydactyly	ORPHA:79329
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hyperlordosis, Flexion contracture, Osteoporosis, Scoliosis, Failure to thrive	ORPHA:365
Wrinkly Skin Syndrome	Osteopenia, Microretrognathia, Pes planus, Congenital hip dislocation, Short stature, Kyphosis, W...	OMIM:278250
Agel Amyloidosis	Pruritus, Dry skin, Cutis laxa	ORPHA:85448
3C Syndrome	Finger syndactyly, Short stature, Micrognathia, Missing ribs, Short neck, Kyphosis, Postnatal gro...	ORPHA:7
3Mc Syndrome 2	Craniosynostosis, Limited elbow movement, Postnatal growth retardation, Hip dislocation, Radiouln...	OMIM:265050
Cardioacrofacial Dysplasia 1	Limb undergrowth, Postaxial polydactyly, Genu valgum	OMIM:619142
Radio-Renal Syndrome	Severe short stature, Micromelia, Micrognathia, Short neck, Hypoplasia of the radius, Abnormal ri...	ORPHA:3015
Beta-Thalassemia	Reduced bone mineral density	ORPHA:848
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Short stature, Delayed skeletal maturation, Osteoporosis, Delayed puberty, Pathologic...	ORPHA:77293
Emanuel Syndrome	Sacral dimple, Congenital hip dislocation, Micrognathia, Kyphosis, Scoliosis, Intrauterine growth...	OMIM:609029
Congenital Disorder Of Glycosylation, Type Il	Short neck, Kyphosis, Delayed skeletal maturation, Hip dislocation, Failure to thrive	OMIM:608776
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Failure to thrive in infancy, Hyperlordosis, Kyphosis, Scoliosis, Pes cavus, Proxim...	OMIM:162300
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Sacral dimple, Short stature, Micrognathia, Short neck, Kyphosis, Mesomelia, Scoliosi...	OMIM:616894
Autosomal Dominant Progressive External Ophthalmoplegia	Failure to thrive, Osteoporosis, Absent Achilles reflex	ORPHA:254892
Primary Biliary Cholangitis	Osteoporosis	ORPHA:186
Boomerang Dysplasia	Severe short stature, Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia	OMIM:112310
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Craniosynostosis, Short neck, Cutis laxa, Failure to thrive	OMIM:266920
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Sandal gap, Short stature, Joint stiffness, Micrognathia, Decreased fibular diameter,...	OMIM:619127
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis, Cervical ribs, Micrognathia	ORPHA:77300
Wilson Disease	Osteomalacia, Osteoarthritis, Osteoporosis, Pedal edema, Joint hypermobility	OMIM:277900
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Edema of the dorsum of feet, Rocker bottom foot, Microgn...	ORPHA:521426
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Small for gestational age, Short stature, Ky...	ORPHA:97360
Cushing Disease	Acne, Osteoporosis, Increased body weight, Skin ulcer, Recurrent cutaneous fungal infections, Tru...	ORPHA:96253
Rett Syndrome	Short stature, Cachexia, Kyphosis, Short foot, Scoliosis	OMIM:312750
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Proximal placement of thumb	OMIM:615433
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Postnatal growth re...	OMIM:263750
Autosomal Recessive Robinow Syndrome	Micrognathia, Short neck, Vertebral segmentation defect, Clinodactyly of the 5th finger, Synostos...	ORPHA:1507
Marfanoid-Progeroid-Lipodystrophy Syndrome	Pes planus, Hyperextensibility of the finger joints, Arachnodactyly, Craniosynostosis, Long finge...	OMIM:616914
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Soft skin, Hyperextensible skin, Joint laxity	OMIM:225320
Koolen-De Vries Syndrome	Vertebral fusion, Arachnodactyly, Short stature, Kyphosis, Hip dislocation, Joint hyperflexibilit...	ORPHA:96169
Microphthalmia, Lenz Type	Finger syndactyly, Short stature, Camptodactyly of finger, Hyperlordosis, Kyphosis, Abnormal shou...	ORPHA:568
Trisomy 13	Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho...	ORPHA:3378
Mucopolysaccharidosis, Type Ii	Severe short stature, Short stature, Short neck, Kyphosis, Split hand, Flexion contracture, Mild ...	OMIM:309900
Arterial Tortuosity Syndrome	Redundant skin, Craniosynostosis, Joint hyperflexibility, Hyperextensible skin, Scoliosis	ORPHA:3342
Cystic Fibrosis	Osteopenia, Failure to thrive, Osteoporosis, Decreased body mass index	ORPHA:586
Aspartylglucosaminuria	Joint laxity, Short stature, Kyphosis, Delayed skeletal maturation, Hypoplastic frontal sinuses, ...	OMIM:208400
Bone Marrow Failure Syndrome 3	Metaphyseal dysplasia, Congenital hip dislocation, Short stature, Micrognathia, Reduced bone mine...	OMIM:617052
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Scoliosis	ORPHA:85317
B4Galt1-Cdg	Inflammatory abnormality of the skin, Redundant neck skin, Small for gestational age, Elevated ci...	ORPHA:79332
Classical-Like Ehlers-Danlos Syndrome Type 1	Joint hyperflexibility, Spina bifida occulta, Hyperextensible skin, Joint hypermobility	ORPHA:230839
Tibial Hemimelia	Absent tibia	OMIM:275220
Pseudoxanthoma Elasticum	Acne, Skin rash, Pruritus, Lack of skin elasticity, Excessive wrinkled skin, Joint hyperflexibili...	ORPHA:758
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Micrognathia, Absent thumb, Short thumb, Ulna...	OMIM:263650
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Aarskog-Scott Syndrome	Camptodactyly of finger, Short neck, Joint hyperflexibility, Hyperextensible skin, Abnormal verte...	ORPHA:915
Barber-Say Syndrome	Failure to thrive, Hyperextensible skin, Redundant skin	ORPHA:1231
Lysinuric Protein Intolerance	Osteopenia, Delayed skeletal maturation, Osteoporosis, Pathologic fracture, Failure to thrive	ORPHA:470
Cerebrocostomandibular Syndrome	Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyseal sti...	OMIM:117650
2P15P16.1 Microdeletion Syndrome	Pes planus, Sandal gap, Camptodactyly of finger, Tapered finger, Metatarsus adductus, Kyphosis, G...	ORPHA:261349
Monosomy 9Q22.3	Large for gestational age, Short neck, Kyphosis, Accelerated skeletal maturation, Plantar pits, A...	ORPHA:77301
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Slender build, Scoliosis	OMIM:300676
Parathyroid Carcinoma	Bone pain, Osteoporosis, Weight loss	ORPHA:143
Kleefstra Syndrome 2	Growth delay, Kyphosis, Scoliosis	OMIM:617768
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Severe short stature, Wide anterior fontanel, Hip dislocation, Pathologic fracture,...	ORPHA:90349
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Spinal canal stenosis, Fused ce...	ORPHA:1724
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Osteoporosis, Growth delay, Mitten deformity, Failure to thrive	ORPHA:79404
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Pes planus, Micrognathia, Unilateral radial aplasia, Tapered finger, Partial absence of thumb, Ky...	ORPHA:476126
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fingers, Kyphosis, Contractures of ...	OMIM:617527
Hepatoerythropoietic Porphyria	Osteopenia, Osteoporosis, Osteolysis	ORPHA:95159
Marden-Walker Syndrome	Severe short stature, Arachnodactyly, Camptodactyly of finger, Talipes, Joint stiffness, Microgna...	ORPHA:2461
Cystinosis, Nephropathic	Failure to thrive in infancy, Short stature, Metaphyseal widening, Delayed skeletal maturation, R...	OMIM:219800
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Tarsal synostosis, Aplastic clavicle, Micrognathia, Kyphosis, Wide anterior fontanel, Delayed ske...	ORPHA:85199
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Short stature...	OMIM:146510
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Foot joint contracture, Flexion contracture, Osteoporosis, Growth delay, Palmoplantar...	ORPHA:79408
Congenital Disorder Of Glycosylation, Type Iiw	Pes planus, Micrognathia, Osteoporosis, Scoliosis, Failure to thrive	OMIM:619525
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Hemifacial Atrophy, Progressive	Short mandibular rami, Kyphosis	OMIM:141300
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Short stature, Delayed skeletal maturation, Growth delay, Delayed puberty, Generalize...	ORPHA:391487
Ellis Van Creveld Syndrome	Micromelia, Capitate-hamate fusion, Delayed skeletal maturation, Genu valgum, Abnormal pelvic gir...	ORPHA:289
Immunodeficiency 47	Failure to thrive, Joint hypermobility, Cutis laxa	OMIM:300972
Trisomy 9P	Sacral dimple, Short neck, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:236
Noonan Syndrome 14	Pes planus, Short stature, Short neck, Kyphosis, Pes valgus, Clinodactyly, Limited elbow extension	OMIM:619745
Alstrom Syndrome	Pes planus, Short stature, Accelerated skeletal maturation, Kyphosis, Truncal obesity, Hyperostos...	OMIM:203800
Williams Syndrome	Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, C...	ORPHA:904
Cornelia De Lange Syndrome 1	Short stature, Micromelia, Micrognathia, Proximal placement of thumb, Short neck, Delayed skeleta...	OMIM:122470
Hydrolethalus Syndrome 1	Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha...	OMIM:236680
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Talipes, Micromelia, Micrognat...	ORPHA:1908
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Arachnodactyly, Obesity	ORPHA:261222
Zttk Syndrome	Short stature, Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Small hand, Hemiverte...	OMIM:617140
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, Lower limb asymmetry, Micrognathia, Kyphosis, 2-3 toe syndactyly, Postaxia...	ORPHA:404440
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve...	ORPHA:87
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Kyphosis, Elevated circulating creatine kinase concentration, Spi...	OMIM:615084
Recombinant 8 Syndrome	Camptodactyly of finger, Redundant skin, Scoliosis	ORPHA:96167
Micro Syndrome	Short stature, Micrognathia, Joint stiffness, Kyphosis, Scoliosis, Delayed puberty, Intrauterine ...	ORPHA:2510
Hypocalciuric Hypercalcemia, Familial, Type Iii	Bone pain, Osteomalacia	OMIM:600740
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Cutis laxa	OMIM:270420
Tsh-Secreting Pituitary Adenoma	Osteopenia, Osteoporosis, Delayed puberty, Weight loss	ORPHA:91347
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Multiple joint contractures, Small for gestational age, Arachnodactyly, Toe syndac...	ORPHA:464306
Dystonia 1, Torsion, Autosomal Dominant	Multiple joint contractures, Hyperlordosis, Kyphosis, Absent Achilles reflex, Scoliosis	OMIM:128100
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Pes cavus, Scoliosis	OMIM:610743
Spastic Paraplegia 46, Autosomal Recessive	Ankle clonus, Kyphosis, Pes cavus, Scoliosis	OMIM:614409
Neonatal Marfan Syndrome	Flexion contracture, Small for gestational age, Joint hypermobility, Cutis laxa	ORPHA:284979
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Joint laxity, Pes planus, Arachnodactyly, Large for gestational age, Hyperlordosis, Kyphosis, Lar...	OMIM:617011
Primary Sclerosing Cholangitis	Osteopenia, Osteoporosis, Weight loss	ORPHA:171
Robinow Syndrome, Autosomal Dominant 1	Micrognathia, Short neck, Short palm, Duplication of the distal phalanx of hand, Dislocated radia...	OMIM:180700
Acrocephalopolydactylous Dysplasia	Postaxial hand polydactyly, Short neck, Craniosynostosis, Micromelia	OMIM:200995
Alexander Disease	Osteopenia, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Failure to thrive	ORPHA:58
Cutis Laxa, Autosomal Recessive, Type Iic	Joint laxity, Kyphoscoliosis, Knee flexion contracture, Cutis laxa, Camptodactyly, Decreased body...	OMIM:617402
Multiple Endocrine Neoplasia Type 1	Increased susceptibility to fractures, Weight loss, Osteolysis, Reduced bone mineral density	ORPHA:652
Myasthenic Syndrome, Congenital, 20, Presynaptic	Pes planus, Arthrogryposis multiplex congenita, Kyphosis, Scoliosis	OMIM:617143
Acral Self-Healing Collodion Baby	Palmoplantar scaling skin, Erythema, Lack of skin elasticity	ORPHA:281127
Cardiofacioneurodevelopmental Syndrome	Micrognathia, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly	OMIM:619123
Hyperparathyroidism-Jaw Tumor Syndrome	Bone pain, Osteoporosis	ORPHA:99880
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Sandal gap, Tapered finger, Micrognathia, Kyphosis, 2-3 toe syndactyly, Scoliosis, Clinodactyly o...	OMIM:617061
Cutis Laxa, Autosomal Dominant 1	Hyperextensible skin, Redundant skin, Cutis laxa	OMIM:123700
X-Linked Charcot-Marie-Tooth Disease Type 5	Kyphosis, Scoliosis	ORPHA:99014
Hardikar Syndrome	Short stature, Thoracolumbar scoliosis, Osteoporosis, Growth delay, Failure to thrive	OMIM:301068
Blue Rubber Bleb Nevus	Pathologic fracture	OMIM:112200
Ogden Syndrome	Redundant neck skin, Redundant skin, Facial wrinkling, Short neck, Eczema, Cutis laxa, Scoliosis	OMIM:300855
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Redundant neck skin, Small for gestational age, Elevated circulating creatine kinase concentratio...	OMIM:301056
Cerebrocostomandibular Syndrome	Short stature, Micrognathia, Kyphosis, Posterior rib gap, Clinodactyly of the 5th finger, Tracheo...	ORPHA:1393
Orofaciodigital Syndrome Type 4	Finger syndactyly, Severe short stature, Camptodactyly of finger, Micromelia, Micrognathia, Preax...	ORPHA:2753
Williams-Beuren Syndrome	Osteopenia, Joint laxity, Hallux valgus, Failure to thrive in infancy, Down-sloping shoulders, Ky...	OMIM:194050
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Flexion contracture of finger, Small for gestational age, Ankle flexion contracture, Tapered fing...	ORPHA:464311
Infantile Nephropathic Cystinosis	Growth delay, Failure to thrive, Rickets	ORPHA:411629
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial...	ORPHA:93271
Trichorhinophalangeal Syndrome, Type Ii	Osteopenia, Thoracolumbar scoliosis, Redundant skin in infancy, Cutis laxa, Lumbar scoliosis, Sco...	OMIM:150230
Axenfeld-Rieger Syndrome	Redundant skin	ORPHA:782
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Short stature, Cachexia, Kyphosis, Scoliosis, Genu varum	ORPHA:1969
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Scoliosis	OMIM:300861
Alkaptonuria	Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thickened Achill...	OMIM:203500
Ehlers-Danlos Syndrome, Periodontal Type, 1	Joint laxity, Generalized joint laxity, Hyperextensible skin, Scoliosis, Palmoplantar cutis laxa,...	OMIM:130080
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Kyphosis, Cutis laxa, Lumbar kyphosis, Scoliosis, Decrea...	OMIM:303600
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Coxa valga, Absent frontal sinuses, Tapered finger, Kyphosis, Postnatal growth re...	OMIM:301040
Zimmermann-Laband Syndrome 2	Kyphosis, Short stature, Short neck	OMIM:616455
Shprintzen-Goldberg Syndrome	Osteopenia, Camptodactyly of finger, Craniosynostosis, Joint stiffness, Abnormal form of the vert...	ORPHA:2462
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Sacral dimple, Severe short stature, Short stature, Camptodactyly of finger, M...	ORPHA:3107
Cranioectodermal Dysplasia 2	Joint laxity, Syndactyly, Rhizomelia, Short stature, Craniosynostosis, Micrognathia, Short neck, ...	OMIM:613610
Gapo Syndrome	Joint hypermobility, Redundant skin, Scoliosis	OMIM:230740
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Genu valgum, Knee flexion contr...	OMIM:619194
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Joint laxity, Hyperextensibility of the finger joints, Sacral dimple, Hip contracture, Failure to...	OMIM:619503
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Overlapping toe, Kyphosis, Deviation of the 2nd finger, 2-3 toe syndactyly, Sc...	ORPHA:464738
Orofaciodigital Syndrome Iii	Postaxial foot polydactyly, Kyphosis, Postaxial hand polydactyly, Short sternum	OMIM:258850
Schisis Association	Small for gestational age, Micromelia	ORPHA:63862
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint laxity, Short stature, Osteoporosis, Hip dysplasia, Scoliosis	ORPHA:438213
Genitopalatocardiac Syndrome	Micrognathia, Kyphosis, Postaxial hand polydactyly, Scoliosis, Intrauterine growth retardation, B...	ORPHA:2075
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Micromelia, Micrognathi...	OMIM:612651
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Short neck, Long...	OMIM:256520
Pseudoxanthoma Elasticum	Cutis laxa	OMIM:264800
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis	OMIM:106300
Yunis-Varon Syndrome	Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatar...	OMIM:216340
8Q22.1 Microdeletion Syndrome	Camptodactyly of finger, Craniosynostosis, Short neck, Limitation of joint mobility, Lack of skin...	ORPHA:178303
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Kyphosis, Elevated circulating creatine kinase concentration, Spi...	ORPHA:352447
Cardiofaciocutaneous Syndrome 4	Joint laxity, Hyperextensible skin, Scoliosis	OMIM:615280
Short Stature, Microcephaly, And Endocrine Dysfunction	Short stature, Truncal obesity, Disproportionate short-limb short stature, Limb undergrowth, Intr...	OMIM:616541
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Lack of skin elasticity, Joint stiffness	ORPHA:1366
Alkaptonuria	Joint stiffness, Osteoarthritis, Reduced bone mineral density, Arthritis, Thickened Achilles tend...	ORPHA:56
Mitochondrial Complex I Deficiency, Nuclear Type 35	Redundant neck skin	OMIM:619003
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Kyphosis, Failure to thrive, Flexion contracture	OMIM:212065
46,Xy Partial Gonadal Dysgenesis	Delayed skeletal maturation, Osteoporosis, Delayed puberty	ORPHA:251510
Congenital Erythropoietic Porphyria	Osteopenia, Osteoporosis, Osteolysis	ORPHA:79277
Congenital Tracheomalacia	Tracheomalacia, Tracheobronchomalacia, Failure to thrive, Cutis laxa	ORPHA:95430
Ehlers-Danlos Syndrome, Classic-Like	Soft skin, Hyperextensible skin, Joint hypermobility, Striae distensae	OMIM:606408
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Cockayne Syndrome Type 2	Kyphosis, Flexion contracture, Scoliosis, Intrauterine growth retardation	ORPHA:90322
Koolen-De Vries Syndrome Due To A Point Mutation	Joint laxity, Pes planus, Prominent fingertip pads, Anomaly of lower limb diaphyses, Small for ge...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint laxity, Pes planus, Prominent fingertip pads, Anomaly of lower limb diaphyses, Small for ge...	ORPHA:363958
Fontaine Progeroid Syndrome	Small for gestational age, Redundant skin, Craniosynostosis, Coronal craniosynostosis, Platyspond...	OMIM:612289
Dyskeratosis Congenita, X-Linked	Intrauterine growth retardation, Osteoporosis, Short stature	OMIM:305000
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ...	ORPHA:85165
Huriez Syndrome	Dry skin, Lack of skin elasticity	ORPHA:384
Cutis Laxa, Autosomal Recessive, Type Ib	Soft skin, Joint hypermobility, Cutis laxa, Dermal translucency	OMIM:614437
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Joint laxity, Pes planus, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Large for gestati...	ORPHA:457359
Mend Syndrome	Sacral dimple, Broad hallux, Overlapping toe, Short stature, Micrognathia, Long fingers, Kyphosis...	ORPHA:401973
Ehlers-Danlos Syndrome, Classic Type, 1	Hyperextensibility of the finger joints, Hyperextensibility at elbow, Osteoarthritis, Hyperextens...	OMIM:130000
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Arthrogryposis multiplex congenita, Redundant neck skin, Short neck	OMIM:236500
Sialidosis Type 1	Short stature, Kyphosis, Delayed skeletal maturation, Abnormal form of the vertebral bodies, Scol...	ORPHA:812
Cornelia De Lange Syndrome	Micromelia, Micrognathia, Proximal placement of thumb, Short neck, Clinodactyly of the 5th finger...	ORPHA:199
Carpenter Syndrome 2	Craniosynostosis, Short neck, Obesity, Knee flexion contracture, Cutis laxa, Camptodactyly	OMIM:614976
Emanuel Syndrome	Sacral dimple, Multiple joint contractures, Redundant neck skin, Kyphoscoliosis, Scoliosis, Failu...	ORPHA:96170
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Joint laxity, Craniosynostosis, Hyperextensible skin, C1-C2 vertebral abnormality, Sc...	OMIM:182212
Lamellar Ichthyosis	Pruritus, Dry skin, Lack of skin elasticity, Erythroderma	ORPHA:313
Smith-Lemli-Opitz Syndrome	Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Talipes calc...	OMIM:270400
Cardiac-Valvular Ehlers-Danlos Syndrome	Thoracolumbar scoliosis, Kyphoscoliosis, Hypermobility of distal interphalangeal joints, Hyperext...	ORPHA:230851
C Syndrome	Sacral dimple, Toe syndactyly, Failure to thrive in infancy, Talipes, Micromelia, Micrognathia, S...	ORPHA:1308
Cockayne Syndrome A	Hip contracture, Short stature, Kyphosis, Limitation of joint mobility, Ivory epiphyses of the ph...	OMIM:216400
Loeys-Dietz Syndrome 4	Joint laxity, Joint hyperflexibility, Hyperextensible skin, Scoliosis, Striae distensae, Spondylo...	OMIM:614816
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Short neck, Talipes calcaneovalgus, Abnormal form of t...	ORPHA:818
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Postnatal growth retardation, Hypoplasia of the radius, P...	OMIM:192350
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Pes planus, Overlapping toe, Reduced bone mineral density, Scoliosis, Clinodactyly of the 5th finger	OMIM:616682
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Micrognathia, Kyphosis, Knee flexion contracture, Bilateral talipes equinovarus, Overlapping fingers	OMIM:619708
Cushing Syndrome Due To Ectopic Acth Secretion	Acne, Osteoporosis, Increased body weight, Skin ulcer, Weight loss, Recurrent cutaneous fungal in...	ORPHA:99889
Gapo Syndrome	Decreased skull ossification, Joint hyperflexibility, Hyperextensible skin, Abnormal form of the ...	ORPHA:2067
Cowden Syndrome	Short stature, Kyphosis, Bone cyst, Palmoplantar keratoderma, Scoliosis, Failure to thrive, Brach...	ORPHA:201
Viss Syndrome	Joint laxity, Joint hypermobility, Eczema, Kyphosis, Generalized joint laxity, Atopic dermatitis,...	OMIM:619472
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Pituitary dwarfism, Delayed skeletal maturation, Growth delay, Polydactyly, Delayed p...	ORPHA:95494
1P36 Deletion Syndrome	11 pairs of ribs, Short stature, Camptodactyly of finger, Joint stiffness, Lower limb asymmetry, ...	ORPHA:1606
Mend Syndrome	Microretrognathia, Sacral dimple, Broad hallux, Overlapping toe, Short stature, Micrognathia, Lon...	OMIM:300960
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Micrognathia, Kyphosis, Increased femoral anteversion, Scoliosis, Decreased body weight, Intraute...	OMIM:619005
Kleefstra Syndrome Due To A Point Mutation	Tracheomalacia, Failure to thrive, Hyperextensible skin, Large for gestational age	ORPHA:261652
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Redundant neck skin, Scoliosis, Camptodactyly, Spina bifida occulta, Joint hypermobility	OMIM:617360
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Myelofibrosis, Joint laxity, Eczema, Large for gestational age, Short neck, Hyperextensible skin,...	OMIM:607721
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short stature, Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal j...	OMIM:618223
Hydrocephalus, Congenital, 3, With Brain Anomalies	Redundant neck skin	OMIM:617967
Non-Acquired Panhypopituitarism	Osteopenia, Pituitary dwarfism, Short stature, Delayed skeletal maturation, Growth delay, Delayed...	ORPHA:90695
15Q14 Microdeletion Syndrome	Kyphosis, Acne, Scoliosis	ORPHA:261190
Charge Syndrome	Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Postnat...	OMIM:214800
Barber-Say Syndrome	Premature skin wrinkling, Dry skin, Redundant skin, Dermal translucency	OMIM:209885
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Joint laxity, Pes planus, Hallux valgus, Kyphoscoliosis, Kyphosis, Scoliosis, Synostosis of the p...	OMIM:300967
Coffin-Siris Syndrome 1	Joint laxity, Sacral dimple, Sandal gap, Short stature, Aplasia/Hypoplasia of the patella, Aplasi...	OMIM:135900
Ablepharon Macrostomia Syndrome	Excessive wrinkled skin, Dry skin, Camptodactyly of finger, Redundant skin	ORPHA:920
Hydrolethalus	Postaxial hand polydactyly, Micromelia, Micrognathia	ORPHA:2189
Chromosome 14Q11-Q22 Deletion Syndrome	Proportionate short stature, Micrognathia, Delayed skeletal maturation, Growth delay, Mesomelia, ...	OMIM:613457
Zaki Syndrome	Sacral dimple, Hyperextensible skin, Scoliosis	OMIM:619648
Antisynthetase Syndrome	Pruritus, Skin rash, Elevated circulating creatine kinase concentration, Lack of skin elasticity	ORPHA:81
Leukocyte Adhesion Deficiency Type Ii	Overlapping toe, Small for gestational age, Short stature, Limb undergrowth, Intrauterine growth ...	ORPHA:99843
Mandibuloacral Dysplasia With Type A Lipodystrophy	Flexion contracture, Limitation of joint mobility, Osteolysis, Lack of skin elasticity, Osteolyti...	ORPHA:90153
Fibromuscular Dysplasia, Multifocal	Striae distensae, Joint hypermobility, Hyperextensible skin, Scoliosis, Soft, doughy skin, Soft s...	OMIM:619329
Proteus Syndrome	Hallux valgus, Finger syndactyly, Macrodactyly, Cachexia, Craniosynostosis, Joint stiffness, Lowe...	ORPHA:744
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Short stature, Micrognathia, Small hand, Obesity, Fibular hypoplasia, Hypoplasia of proximal radi...	ORPHA:444077
Basel-Vanagaite-Smirin-Yosef Syndrome	Kyphosis, 2-3 toe syndactyly, Scoliosis	OMIM:616449
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Kyphosis, Intrauterine growth retardation	OMIM:619909
16Q24.3 Microdeletion Syndrome	Proximal placement of thumb, Micrognathia, Kyphosis, Hip dysplasia, Scoliosis	ORPHA:261250
Srd5A3-Cdg	Kyphosis, Abnormal sacrum morphology, Palmoplantar keratoderma	ORPHA:324737
Combined Oxidative Phosphorylation Deficiency 5	Redundant neck skin	OMIM:611719
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Hyperextensible skin, Joint hypermobility, Scoliosis	ORPHA:555877
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Micromelia, Short neck, Preaxial polydactyly, Short ribs	OMIM:616546
Acrofrontofacionasal Dysostosis 2	Sacral dimple, Redundant neck skin	OMIM:239710
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis	ORPHA:500180
Familial Hypocalciuric Hypercalcemia	Osteomalacia	ORPHA:405
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis, Clinodactyly, Radial deviation of finger, Micrognathia	OMIM:609944
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Soft, doughy skin, Hyperextensible skin, Joint laxity, Dermal translucency	ORPHA:541423
Proximal Renal Tubular Acidosis	Mild postnatal growth retardation, Short stature, Reduced bone mineral density, Growth delay, Fai...	ORPHA:47159
Chromosome 18P Deletion Syndrome	Redundant neck skin, Small for gestational age, Short neck	OMIM:146390
Weill-Marchesani Syndrome 2	Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Elbow flexion contracture, Spinal canal ...	OMIM:608328
Tetrasomy 5P	Failure to thrive, Redundant neck skin, Short neck	ORPHA:3309
Neurooculocardiogenitourinary Syndrome	Redundant neck skin	OMIM:618652
Pmm2-Cdg	Osteopenia, Joint laxity, Pes planus, Multiple joint contractures, Kyphoscoliosis, Long fingers, ...	ORPHA:79318
Kosaki Overgrowth Syndrome	Hyperextensible skin, Thoracolumbar scoliosis, Scoliosis	OMIM:616592
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Small cervical vertebral bodies, Redundant neck skin, Early ossification of capital femoral epiph...	ORPHA:397715
Mowat-Wilson Syndrome	Hallux valgus, Syndactyly, Pes planus, Ulnar deviation of the hand, Broad hallux, Recurrent fract...	ORPHA:2152
Papillorenal Syndrome	Soft skin, Joint laxity, Hyperextensible skin, Scoliosis	OMIM:120330
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Sacral dimple, Small for gestational age, Failure to thrive in infancy, Short stat...	ORPHA:268261
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Failure to thrive in infancy, Osteomalacia, Stippled calcification of th...	ORPHA:51608
Foxg1 Syndrome Due To 14Q12 Microdeletion	Growth delay, Kyphosis, Scoliosis	ORPHA:261144
Acromegaly	Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Deep plantar creas...	ORPHA:963
Peroxisome Biogenesis Disorder 1A (Zellweger)	Epiphyseal stippling, Failure to thrive, Redundant neck skin	OMIM:214100
Somatomammotropinoma	Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Deep plantar creas...	ORPHA:314769
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Joint laxity, Back pain, Osteomyelitis, Overweight, Kyphosis, Delayed puberty, Obesity, Genu valg...	OMIM:619475
Fucosidosis	Kyphosis, Failure to thrive, Anterior beaking of lumbar vertebrae	ORPHA:349
Autosomal Recessive Ataxia, Beauce Type	Ankle clonus, Kyphosis, Pes cavus, Scoliosis	ORPHA:88644
Ablepharon-Macrostomia Syndrome	Premature skin wrinkling, Dry skin, Redundant skin, Camptodactyly	OMIM:200110
Immunodeficiency 82 With Systemic Inflammation	Arthritis, Osteomyelitis, Osteomalacia, Weight loss	OMIM:619381
Ramon Syndrome	Short stature, Kyphosis, Scoliosis, Decreased body weight, Juvenile rheumatoid arthritis	OMIM:266270
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Redundant neck skin, Hypoproteinemia, Short neck	OMIM:235255
Beare-Stevenson Cutis Gyrata Syndrome	Palmoplantar cutis laxa, Redundant neck skin, Limited elbow extension, Craniosynostosis	OMIM:123790
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Joint laxity, Redundant neck skin, Flexion contracture, Camptodactyly, Flexion contracture of fin...	ORPHA:254528
Atelis Syndrome 2	Pes planus, Sacral dimple, Micrognathia, Kyphosis, Clinodactyly	OMIM:620185
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis, Dry skin	OMIM:619244
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Tracheomalacia, Redundant neck skin, Short neck	OMIM:217980
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal pelvis bone morphology, Severe short stature, Camptodactyly of finger, Kyphosis, Delayed...	ORPHA:2273
Rett Syndrome, Congenital Variant	Pes planus, Kyphosis, Talipes equinovarus, Scoliosis	OMIM:613454
Beckwith-Wiedemann Syndrome	Obesity, Redundant skin, Elevated circulating alpha-fetoprotein concentration, Large for gestatio...	ORPHA:116
Brown-Vialetto-Van Laere Syndrome 1	Ankle clonus, Kyphosis, Scoliosis	OMIM:211530
Cowden Syndrome 5	Kyphosis, Scoliosis, Palmoplantar hyperkeratosis, Micrognathia	OMIM:615108
Cockayne Syndrome	Severe short stature, Cachexia, Postnatal growth retardation, Kyphosis, Growth delay, Contracture...	ORPHA:191
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Cervical hemivertebrae, Short neck, Generalized joint laxity, Fused cervical ...	ORPHA:508498
Cowden Syndrome 6	Kyphosis, Scoliosis, Palmoplantar hyperkeratosis, Micrognathia	OMIM:615109
Noonan Syndrome 10	Palmoplantar cutis laxa, Hyperextensible skin, Scoliosis, Short neck	OMIM:616564
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Micromelia, Short neck	ORPHA:1675
Peters Plus Syndrome	Sacral dimple, Toe syndactyly, Rhizomelia, Short stature, Micromelia, Micrognathia, Short neck, P...	ORPHA:709
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Redundant neck skin, Hypoproteinemia, Short neck	ORPHA:1655
Noonan Syndrome 2	Palmoplantar cutis laxa, Arthrogryposis multiplex congenita, Hyperextensible skin, Short neck	OMIM:605275
Noonan Syndrome With Multiple Lentigines	Excessive wrinkled skin, Spina bifida occulta, Hyperextensible skin, Scoliosis	ORPHA:500
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Sacral dimple, Short neck, Hyperlordosis, Excessive wrinkled skin, Hyperextensible skin, Scoliosi...	OMIM:619950
Postencephalitic Parkinsonism	Kyphosis, Camptocormia	ORPHA:97349
Cowden Syndrome 1	Kyphosis, Scoliosis, Palmoplantar hyperkeratosis, Micrognathia	OMIM:158350
Classical Ehlers-Danlos Syndrome	Osteopenia, Osteoarthritis, Generalized joint laxity, Hyperextensible skin, Scoliosis, Soft, doug...	ORPHA:287
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Redundant neck skin, Small for gestational age	OMIM:604314
Chromosome Xq26.3 Duplication Syndrome	Kyphosis, Accelerated skeletal maturation	OMIM:300942
Branchiooculofacial Syndrome	Proximal placement of thumb, Micrognathia, Short neck, Short thumb, Preaxial hand polydactyly, Hy...	OMIM:113620
Vascular Ehlers-Danlos Syndrome	Redundant skin, Osteoarthritis, Osteolysis, Excessive wrinkled skin, Joint hyperflexibility, Derm...	ORPHA:286
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint laxity, Recurrent skin infections, Generalized joint laxity, Hyperextensible skin, Distal a...	OMIM:601776
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Sacral dimple, Redundant neck skin, Eczema, Short neck, Obesity, Soft skin, Failure to thrive	OMIM:617157
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis	OMIM:177850
Cockayne Syndrome Type 3	Kyphosis, Flexion contracture, Mild postnatal growth retardation, Scoliosis	ORPHA:90324
Multiple Benign Circumferential Skin Creases On Limbs	Increased number of skin folds	ORPHA:2505
Sotos Syndrome	Joint laxity, Hip contracture, Pes planus, Sacrococcygeal teratoma, Ankle flexion contracture, Cr...	ORPHA:821
Hypermobile Ehlers-Danlos Syndrome	Osteoarthritis, Limitation of joint mobility, Osteolysis, Joint hyperflexibility, Hyperextensible...	ORPHA:285
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Redundant neck skin	ORPHA:2519
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Scoliosis, Decreased body weight	OMIM:182210
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cachexia, Skin ulcer, Hyperextensible skin, Scoliosis, Thoracolumbar kyphosis, Ecchymosis	ORPHA:2072
Triosephosphate Isomerase Deficiency	Kyphosis, Failure to thrive	OMIM:615512
Gabriele-De Vries Syndrome	Small for gestational age, Craniosynostosis, Hyperextensible skin, Distal arthrogryposis, Finger ...	ORPHA:506358
Costello Syndrome	Hyperextensibility of the finger joints, Redundant neck skin, Limited elbow movement, Short neck,...	OMIM:218040
Autosomal Recessive Faciodigitogenital Syndrome	Joint hyperflexibility, Hyperextensible skin	ORPHA:1974
Lymphedema-Distichiasis Syndrome	Kyphosis, Micrognathia	OMIM:153400
Leprechaunism	Failure to thrive, Hyperextensible skin, Increased circulating renin level, Decreased body weight	ORPHA:508
Yunis-Varon Syndrome	Decreased skull ossification, Absent sternal ossification, Severe failure to thrive, Redundant ne...	ORPHA:3472
Ehlers-Danlos Syndrome, Vascular Type	Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, Hypermobility of distal int...	OMIM:130050
Down Syndrome	Redundant neck skin, Atlantoaxial instability, Joint laxity	OMIM:190685
Autosomal Recessive Spastic Paraplegia Type 35	Ankle clonus, Kyphosis, Positional foot deformity	ORPHA:171629
Okamoto Syndrome	Redundant neck skin, Joint hypermobility, Scoliosis	ORPHA:2729
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Redundant neck skin	OMIM:618164
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Scoliosis	OMIM:619482
Alström Syndrome	Pes planus, Thoracic scoliosis, Short stature, Accelerated skeletal maturation, Kyphosis, Short t...	ORPHA:64
Lacrimoauriculodentodigital Syndrome 1	Hyperextensible skin	OMIM:149730

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 Ppib

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 Ppib.

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

Order Mouse and ES Cells

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

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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