Not currently registered for phenotyping at IMPC

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

Gene Summary

cartilage associated protein
CASP,  5730529N23Rik,  Leprel3,  P3h5

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Crtap mutations

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

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

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

Disease Similarity of
Matching phenotypes Source
Osteogenesis Imperfecta, Type Vii
Scoliosis, Protrusio acetabuli, Wide anterior fontanel, Rhizomelia, Decreased calvarial ossificat... OMIM:610682

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

Disease Similarity of
Matching phenotypes Source
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Enlarged epiphyses, Camptodactyly, Joint contracture of the hand, Short stature, Os... OMIM:264010
Avascular Necrosis Of Femoral Head, Primary, 1
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis OMIM:608805
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia, Delayed puberty OMIM:615270
Brachyolmia Type 1, Hobaek Type
Scoliosis, Squared-off platyspondyly, Short iliac bones, Flattened proximal radial epiphyses, Kyp... OMIM:271530
Immunodeficiency 12
Osteoporosis, Growth delay OMIM:615468
Eiken Syndrome
Short toe, Abnormal bone ossification, Short phalanx of finger, Abnormal trabecular bone morpholo... ORPHA:79106
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Osteoporosis, Hip dislocation, Hip subluxation, Recurrent fractures OMIM:256720
Brachyolmia Type 1, Toledo Type
Squared-off platyspondyly, Broad tibial metaphyses, Childhood-onset short-trunk short stature, Ba... OMIM:271630
Diastrophic Dysplasia
Costal cartilage calcification, Disproportionate short-limb short stature, Hypoplastic cervical v... OMIM:222600
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Scoliosis, Hyperlordosis, Disproportionate short stature, Metaphyseal chondrodyspl... ORPHA:2501
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Multiple Epiphyseal Dysplasia, Lowry Type
Scoliosis, Genu valgum, Abnormal bone ossification, Rhizomelia, Flattened epiphysis, Epiphyseal d... ORPHA:166016
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Osteoporosis, Scoliosis, Delayed thelarche, Joint laxity, Delayed puberty, Short stature, Short neck OMIM:616033
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Osteoporosis, Contractures of the large joints, Short stature, Postnatal growth retardation OMIM:608278
Extensor Tendons Of Finger Anomalies
Osteoporosis, Camptodactyly of finger, Limitation of joint mobility ORPHA:3294
Hip Dysplasia, Beukes Type
Hip dysplasia, Scoliosis, Abnormal bone ossification, Abnormal ossification involving the femoral... ORPHA:2114
Winchester Syndrome
Osteolysis involving bones of the upper limbs, Generalized osteoporosis, Osteolysis involving bon... OMIM:277950
Gnathodiaphyseal Dysplasia
Scoliosis, Bowing of the long bones, Recurrent fractures, Osteopenia, Mandibular osteomyelitis, T... ORPHA:53697
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Limited wrist movement, Localized osteoporosis, Thoracic kyphosis, Flattened femoral h... ORPHA:93284
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Beaking of vertebral bodies, Hypoplastic ilia, Joint stiffness, Kyphoscoliosis, St... OMIM:616583
Progressive Pseudorheumatoid Dysplasia
Osteoporosis, Camptodactyly of finger, Metaphyseal widening, Platyspondyly, Enlarged interphalang... OMIM:208230
Bruck Syndrome 1
Osteoporosis, Platyspondyly, Scoliosis, Protrusio acetabuli, Joint laxity, Kyphosis, Coxa vara, I... OMIM:259450
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Joint laxity, Growth delay, Metaphyseal dysplasia, Short stature, Kyphoscoliosis, D... OMIM:614727
Isolated Glycerol Kinase Deficiency
Osteoporosis, Scoliosis, Hyperlordosis, Short stature ORPHA:408
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Joint hyperflexibility, Brachydactyly, Short distal phalanx of finger ORPHA:2787
Osteoporosis OMIM:166710
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Genu valgum, Hyperlordosis, Disproportionate short stature, Coronal cleft vertebrae, A... OMIM:618363
Scoliosis, Genu valgum, Platyspondyly, Metaphyseal enchondromatosis, Anisospondyly, Generalized j... ORPHA:85198
Premature Ovarian Failure 2B
Osteoporosis, Delayed puberty OMIM:300604
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Platyspondyly, Cone-shaped epiphysis, Short stature ORPHA:71267
Insulin-Like Growth Factor I Deficiency
Radial deviation of finger, Clinodactyly, Short stature, Intrauterine growth retardation, Osteopenia OMIM:608747
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Osteoporosis, Joint laxity, Recurrent fractures, Short stature, Epiphyseal dysplasia OMIM:248010
Scoliosis, Irregular carpal bones, Joint laxity, Metaphyseal irregularity, Short phalanx of finge... ORPHA:750
Parastremmatic Dwarfism
Scoliosis, Genu valgum, Kyphosis, Flexion contracture, Severe short stature, Short neck OMIM:168400
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Platyspondyly, Kyphosis, Short stature ORPHA:2786
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Short stature, Kyphoscoliosis, Abnormality of the meta... ORPHA:93304
Scoliosis, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Kyphosis, Abnormal co... ORPHA:2777
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Genu valgum, Platyspondyly, Upper limb undergrowth, Short metatarsal, Synostosis of... ORPHA:93351
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Disproportionate short stature, Ovoid vertebral bodies, Short long bone, Co... OMIM:611702
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Scoliosis, Irregularity of vertebral bodies, Abnormal hip joint morpho... ORPHA:1159
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Scoliosis, Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Postnatal gro... OMIM:618728
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Forsythe-Wakeling Syndrome
Osteoporosis, Growth delay, Short stature OMIM:613606
Flynn-Aird Syndrome
Osteoporosis, Increased bone density with cystic changes, Increased bone mineral density, Joint s... OMIM:136300
Bruck Syndrome
Osteoporosis, Platyspondyly, Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Bowing of t... ORPHA:2771
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Scoliosis, Abnormal form of the vertebral bodies, Abnormality of the metacarpal bo... ORPHA:2370
Hall-Riggs Mental Retardation Syndrome
Osteoporosis, Scoliosis, Platyspondyly, Kyphosis, Irregular vertebral endplates, Metaphyseal dysp... OMIM:234250
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Massively thickened long bone cortices, Brachydactyly, Short stature, Kyphoscoliosis OMIM:122900
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Fibular bowing, Genu valgum, Generalized bone demineralization, Metaphyseal ir... OMIM:600785
Multiple Epiphyseal Dysplasia Type 1
Hip dysplasia, Genu valgum, Disproportionate short stature, Finger joint hypermobility, Abnormal ... ORPHA:93308
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Platyspondyly, Scoliosis, Recurrent fractures, Severe short stature, Osteopenia, Fe... OMIM:126550
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis, Severe short stature OMIM:204730
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Dislocated radial head, Scoliosis, Platyspondyly, Increased bo... OMIM:614856
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Platyspondyly, Carpal bone hypoplasia, Severe carpal ossification dela... OMIM:184252
Epiphyseal Chondrodysplasia, Miura Type
Scoliosis, Finger clinodactyly, Broad hallux, Long hallux, Osteopenia, Arachnodactyly, Epiphyseal... OMIM:615923
Hyaline Fibromatosis Syndrome
Osteoporosis, Osteopenia, Osteolysis, Progressive flexion contractures OMIM:228600
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis, Scoliosis, Kyphosis OMIM:618234
Odontochondrodysplasia 1
Scoliosis, Joint hypermobility, Short phalanx of finger, Flared iliac wing, Flat acetabular roof,... OMIM:184260
Limited elbow extension, Childhood onset short-limb short stature, Lumbar hyperlordosis, Short lo... OMIM:146000
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Disproportionate short-limb short s... ORPHA:174
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Scoliosis, Hip subluxation, Joint laxity, Metaphyseal irregularity, Neonatal short-trunk short st... ORPHA:93360
Rhizomelic Chondrodysplasia Punctata, Type 1
Epiphyseal stippling, Coronal cleft vertebrae, Calcific stippling of infantile cartilaginous skel... OMIM:215100
Osteogenesis Imperfecta, Type Xi
Scoliosis, Protrusio acetabuli, Joint laxity, Biconcave vertebral bodies, Coxa vara, Increased su... OMIM:610968
Chondroectodermal Dysplasia With Night Blindness
Osteoporosis, Platyspondyly, Metaphyseal irregularity, Metaphyseal dysplasia, Fractures of the lo... ORPHA:319195
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Moderately short stature, Camptodactyly of finger, Dislocated radial head, Platyspondyly, Joint l... OMIM:612350
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Broad thumb, Hypermobility of interphalangeal joints, Atlantoaxial abnormality, Short stature, Ky... ORPHA:3433
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal irregularity, Abnormality of the vertebral column, Metaphyseal cupping ... OMIM:250460
Spondylometaphyseal Dysplasia, Schmidt Type
Genu valgum, Platyspondyly, Hypoplastic pelvis, Short long bone, Metaphyseal dysplasia, Short sta... ORPHA:93316
Richieri Costa-Da Silva Syndrome
Genu valgum, Generalized bone demineralization, Beaking of vertebral bodies, Decreased anteriopos... ORPHA:3101
Osteogenesis Imperfecta, Type Xxi
Osteoporosis, Joint hypermobility, Scoliosis, Platyspondyly, Recurrent fractures, Coxa vara, Bowi... OMIM:619131
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Hip dysplasia, Limited elbow extension, Dislocated radial head, Scoliosis, Platyspondyly, Joint l... ORPHA:93359
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Hip dislocation, Arthrogryposis multiplex congenita, Kyphoscoliosis OMIM:212540
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Syndactyly, Duplication of metatarsal bon... OMIM:600384
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Platyspondyly, Short middle phalanx of the 2nd finger, Short ... OMIM:156510
Osteogenesis Imperfecta, Type Xii
Osteoporosis, Scoliosis, Generalized osteoporosis, Short stature OMIM:613849
Metatropic Dysplasia
Scoliosis, Arthrogryposis multiplex congenita, Dumbbell-shaped metaphyses, Absent primary metaphy... OMIM:156530
Desbuquois Dysplasia 1
Scoliosis, Short metatarsal, Joint laxity, Phalangeal dislocation, Broad first metatarsal, Sandal... OMIM:251450
Menkes Disease
Osteoporosis, Metaphyseal widening, Joint laxity, Short stature, Intrauterine growth retardation,... OMIM:309400
Maternal Uniparental Disomy Of Chromosome 9
Abnormal vertebral morphology, Elbow ankylosis, Kyphoscoliosis, Intrauterine growth retardation, ... ORPHA:96183
Joubert Syndrome 18
Joint laxity, Polydactyly, Camptodactyly, Kyphoscoliosis, Intrauterine growth retardation OMIM:614815
Cerebrooculofacioskeletal Syndrome 1
Osteoporosis, Rocker bottom foot, Arthrogryposis multiplex congenita, Camptodactyly, Second metat... OMIM:214150
Osteogenesis Imperfecta, Type Xvii
Osteoporosis, Platyspondyly, Scoliosis, Thin metacarpal cortices, Short stature, Vertebral compre... OMIM:616507
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Recurrent fractures, Reduced bone mineral density, Delayed puberty, Short stature ORPHA:2410
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Osteoarthritis of the elbow, Protrusio acetabuli, Stiff shoulders, Hip osteoarthri... ORPHA:2619
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Osteoporosis, Camptodactyly of finger, Scoliosis, Kyphosis, Short stature, Abnormality of the cer... ORPHA:48431
Osteoporosis, Short metatarsal, Short stature, Short metacarpal, Short neck, Brachydactyly OMIM:612463
Urban-Rogers-Meyer Syndrome
Osteoporosis, Camptodactyly of finger, Toe syndactyly, Short neck, Abnormality of epiphysis morph... ORPHA:3409
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs, Short stature OMIM:146350
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Flat acetabular roof, Small epiphyses, Short femoral neck, Short neck, Osteoporosis, G... ORPHA:94068
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Lumbar scoliosis, Irregular vertebral endplates, Bowing of the legs, Lower limb un... OMIM:612847
Scoliosis, Irregular carpal bones, Joint laxity, Childhood onset short-limb short stature, Metaph... OMIM:177170
Geroderma Osteodysplastica
Osteoporosis, Scoliosis, Platyspondyly, Abnormal bone ossification, Abnormality of epiphysis morp... ORPHA:2078
Dyssegmental Dysplasia With Glaucoma
Platyspondyly, Wide anterior fontanel, Broad long bones, Short long bone, Flared metaphysis, Shor... OMIM:601561
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Slender finger, Short stature,... OMIM:609813
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender long bones with narrow diaphyses, Dense metaphyseal bands, Short stature, Intrauterine gr... ORPHA:50811
Idiopathic Juvenile Osteoporosis
Osteoporosis, Kyphosis, Recurrent fractures, Vertebral compression fracture ORPHA:85193
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Joint laxity, Kyphoscoliosis OMIM:236660
Shashi-Pena Syndrome
Osteoporosis, Scoliosis, Kyphosis OMIM:617190
Geroderma Osteodysplasticum
Osteoporosis, Platyspondyly, Biconcave vertebral bodies, Beaking of vertebral bodies, Camptodacty... OMIM:231070
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Severe short stature, Hemivertebrae, Vertebral fusion, Disproportionate short-trunk sh... OMIM:277300
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular carpal bones, Hip subluxation, Carpal bone hypoplasia, Ivory epiphyses of the phalanges... OMIM:226980
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Disproportionate short stature, Abnormal form of the vertebral bodies, ... ORPHA:40
Mucolipidosis Type Iii
Hyperlordosis, Large iliac wing, Abnormal form of the vertebral bodies, Craniofacial hyperostosis... ORPHA:577
Pyle Disease
Scoliosis, Genu valgum, Limited elbow extension, Platyspondyly, Reduced bone mineral density, Met... OMIM:265900
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Distal ulnar epiphyseal stippling, Scoliosis, Platyspondyly, Disproportionate short stature, Broa... OMIM:609616
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Osteopenia, Joint hypermobility, Kyphoscoliosis ORPHA:300179
Juvenile Paget Disease
Osteoporosis, Bowing of the long bones, Recurrent fractures, Coarse metaphyseal trabecularization... ORPHA:2801
Ovarian Dysgenesis 1
Osteoporosis OMIM:233300
Osteogenesis Imperfecta, Type Xix
Scoliosis, Biconcave vertebral bodies, Rhizomelia, Recurrent fractures, Severe short stature, Ost... OMIM:301014
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Hyperlordosis, Osteolysis, Abnormality of epiphysis morphology, Abnormal cor... ORPHA:970
Familial Hyperprolactinemia
Osteoporosis, Osteopenia ORPHA:397685
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Flattened femoral head, Thoracic platyspondyly, Toe cli... ORPHA:457395
Warburg Micro Syndrome 1
Osteoporosis, Joint hypermobility, Overlapping toe, Short stature, Kyphoscoliosis OMIM:600118
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Abnormality of tibia morphology, Abnormal form of the vertebral b... ORPHA:3344
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Kyphosis, Severe short stature, Fibular bowing, Horizontal sacrum... OMIM:112350
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Childhood-onset short-trunk short stature, Irregular vertebral endplates, Lumbar h... OMIM:184100
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal enchondral ossificat... ORPHA:2635
Perrault Syndrome 1
Osteoporosis, Scoliosis, Short stature OMIM:233400
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis, Coxa valga, Finger clinodactyly ORPHA:2958
Prieto X-Linked Mental Retardation Syndrome
Osteoporosis, Clinodactyly, Coxa valga, Radial deviation of finger OMIM:309610
Hypocalcemic Vitamin D-Resistant Rickets
Scoliosis, Genu valgum, Osteolysis, Abnormal form of the vertebral bodies, Bone cyst, Recurrent f... ORPHA:93160
Osteoporosis-Pseudoglioma Syndrome
Osteoporosis, Abnormal femoral neck/head morphology, Joint laxity, Crumpled long bones, Increased... ORPHA:2788
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Camptodactyly, Kyphosis, Short stature, Short thumb, Clinodactyly of the 5th finger OMIM:618453
Joint Laxity, Short Stature, And Myopia
Osteopenia, Short neck, Short stature, Kyphoscoliosis OMIM:617662
Osteogenesis Imperfecta, Type Xiv
Scoliosis, Recurrent fractures, Increased susceptibility to fractures, Short stature, Osteopenia,... OMIM:615066
Osteogenesis Imperfecta, Type Iii
Scoliosis, Disproportionate short-limb short stature, Protrusio acetabuli, Wide anterior fontanel... OMIM:259420
Duchenne And Becker Muscular Dystrophy
Hyperlordosis, Scoliosis, Slender long bone, Reduced bone mineral density, Joint stiffness ORPHA:262
Osteoporosis, Abnormal form of the vertebral bodies, Bone cyst, Back pain, Painless fractures due... ORPHA:2583
Idiopathic Hypercalciuria
Osteoporosis, Osteopenia ORPHA:2197
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Platyspondyly, Irregular epiphyses, Ovoid vertebral bodies, Narrow iliac... OMIM:608728
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Fibular bowing, Metaphyseal irregularity, Rickets, Growth delay, Recurrent fra... OMIM:600081
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Epiphyseal stippling, Abnormal bone ossification, Coronal cleft vertebrae, Bowing of the long bon... ORPHA:1952
Osteogenesis Imperfecta, Type V
Joint hypermobility, Platyspondyly, Biconcave vertebral bodies, Recurrent fractures, Anterior rad... OMIM:610967
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Moderate generalized osteoporosis, Biconcave flattened vertebrae OMIM:166230
Cranioectodermal Dysplasia
Osteoporosis, Craniosynostosis, Finger syndactyly, Rhizomelia, Joint hyperflexibility, Short dist... ORPHA:1515
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Spastic Paraplegia 20, Autosomal Recessive
Hyperextensible hand joints, Camptodactyly, Flexion contracture, Clinodactyly, Short stature, Sho... OMIM:275900
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Coronal cleft vertebrae, Short ... OMIM:118651
Mucopolysaccharidosis, Type Iva
Osteoporosis, Genu valgum, Scoliosis, Hyperlordosis, Platyspondyly, Joint laxity, Constricted ili... OMIM:253000
Rothmund-Thomson Syndrome, Type 1
Osteoporosis, Short stature OMIM:618625
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Kyphosis, Brachydactyly, Short stature OMIM:618392
Chst3-Related Skeletal Dysplasia
Scoliosis, Genu valgum, Abnormal form of the vertebral bodies, Rhizomelia, Irregular epiphyses, F... ORPHA:263463
Hyperekplexia 4
Camptodactyly, Flexion contracture, Distal arthrogryposis, Kyphoscoliosis, Adducted thumb OMIM:618011
Mucopolysaccharidosis, Type Ivb
Osteoporosis, Genu valgum, Scoliosis, Hyperlordosis, Platyspondyly, Joint laxity, Constricted ili... OMIM:253010
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615267
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Diaphyseal cortical sclerosis, Increased susceptibility to fractures, O... OMIM:166260
Cerebrooculofacioskeletal Syndrome 4
Camptodactyly of finger, Rocker bottom foot, Arthrogryposis multiplex congenita, Dislocated radia... OMIM:610758
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Moderately short stature, Platyspondyly, Flexion contracture, Flattened epiphysis, Abnormality of... ORPHA:157965
Schwartz-Jampel Syndrome, Type 1
Osteoporosis, Metaphyseal widening, Platyspondyly, Congenital hip dislocation, Coronal cleft vert... OMIM:255800
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Ankle flexion contracture, Kyphoscoliosis OMIM:616668
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Genu valgum, Hyperlordosis, Mild short stature, Metaphyseal irregularity, Kyphosis, Ov... ORPHA:93315
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Flexion contracture, Kyphoscoliosis OMIM:617977
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Platyspondyly, Joint laxity, Flared metaphysis, Hip dislocation, Carpal synostosis, Kyphoscoliosi... OMIM:615349
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormality of limb bone morphology, Abnormality of epiphysis morphology, Synovitis, Reduced bone... ORPHA:85435
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Fibular bowing, Metaphyseal irregularity, Rickets, Hypophosphatemic rickets, R... OMIM:300554
Hypophosphatemic Rickets, X-Linked Dominant
Femoral bowing, Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic rickets,... OMIM:307800
Short 4th metacarpal, Short metatarsal, Short 5th metacarpal, Ectopic ossification, Short distal ... ORPHA:79445
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Joint laxity, Mild short stature, Kyphosis, Increased susceptibility to fractures, Con... OMIM:130060
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Generalized bone demineralization, Joint laxity, Metaphyseal irregularity, Bowing of t... ORPHA:93352
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Erlenmeyer flask deformity of the femurs OMIM:610539
Coxoauricular Syndrome
Reduced bone mineral density, Short stature, Abnormality of femur morphology, Hip dislocation, Ab... ORPHA:1508
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteoporosis, Squared iliac bones, Thoracic scoliosis, Shoulder dislocation, Hip dislocation, Sho... OMIM:618000
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Osteoporosis, Growth delay, Syndactyly, Camptodactyly OMIM:616006
Nestor-Guillermo Progeria Syndrome
Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Scoliosis, Osteolysis, Flex... OMIM:614008
Leukodystrophy, Hypomyelinating, 17
Flexion contracture, Short stature, Kyphoscoliosis OMIM:618006
Multicentric Osteolysis, Nodulosis, And Arthropathy
Metatarsal osteolysis, Split hand, Interphalangeal joint contracture of finger, Wrist flexion con... OMIM:259600
Proteus Syndrome
Mandibular hyperostosis, Thin bony cortex, Kyphoscoliosis, Spinal canal stenosis, Facial hyperost... OMIM:176920
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Joint hypermobility, Hyperlordosis, Congenital finger flexion contractures, Kyphosis, ... ORPHA:536516
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Delayed puberty, Flexion contracture, Kyphoscoliosis OMIM:612079
Spondylometaphyseal Dysplasia, Algerian Type
Genu valgum, Platyspondyly, Hypoplastic pelvis, Carpal bone hypoplasia, Flared femoral metaphysis... OMIM:184253
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Short finger, Kyphosis, Severe short stature, Tapered finger, Thoracolumbar scolio... OMIM:313420
Lichtenstein Syndrome
Osteoporosis, Increased susceptibility to fractures, Metacarpophalangeal joint contracture, Ulnar... OMIM:246550
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Ankylosis, Kyphosis, Bowing of the long bones, Recurrent fractures, Increased bone ... OMIM:239000
Vitamin D-Dependent Rickets, Type 3
Growth delay, Metaphyseal cupping, Bowing of the legs, Flared metaphysis, Genu varum, Osteopenia OMIM:619073
Sialidosis Type 2
Osteoporosis, Kyphosis, Flexion contracture, Short stature ORPHA:87876
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis ORPHA:100024
Fanconi Renotubular Syndrome 3
Rickets, Growth delay, Bowing of the legs, Short stature OMIM:615605
Dermatosparaxis Ehlers-Danlos Syndrome
Osteoporosis, Hip dysplasia, Scoliosis, Rickets, Joint hyperflexibility, Severe short stature, Av... ORPHA:1901
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Osteoporosis, Clinodactyly OMIM:614838
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Joint hyperflexibility, Growth delay, Flexion contracture, Long toe, Short stature, Kyphoscoliosi... ORPHA:75496
Arthrogryposis, Distal, Type 3
Camptodactyly of finger, Arthrogryposis multiplex congenita, Decreased hip abduction, Congenital ... OMIM:114300
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemic rickets, Short stature, Osteomalacia OMIM:193100
Carpenter Syndrome
Genu valgum, Postaxial hand polydactyly, Craniosynostosis, Broad thumb, Toe syndactyly, Finger sy... ORPHA:65759
Achondrogenesis Type 2
Delayed pubic bone ossification, Abnormal bone ossification, Delayed proximal femoral epiphyseal ... ORPHA:93296
Spondylo-Ocular Syndrome
Osteoporosis, Platyspondyly, Joint hyperflexibility, Thoracic kyphosis, Disproportionate short-tr... ORPHA:85194
Smith-Mccort Dysplasia 1
Scoliosis, Genu valgum, Atlantoaxial instability, Multicentric femoral head ossification, Platysp... OMIM:607326
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteoporosis, Growth delay, Delayed puberty, Short stature, Osteopenia ORPHA:369
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Dislocated radial head, Platyspondyly, Disproportionate short stature, Delayed ossification of ca... OMIM:617425
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Generalized osteoporosis OMIM:601220
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Growth delay, Hypophosphatemic rickets, Sc... ORPHA:289176
Osteogenesis Imperfecta, Type Xviii
Joint hypermobility, Joint laxity, Biconcave vertebral bodies, Bowing of the long bones, Recurren... OMIM:617952
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Fibular bowing, Metaphyseal irregularity, Rickets, Growth delay, Hypophosphate... OMIM:241530
Ck Syndrome
Joint hypermobility, Lumbar hyperlordosis, Long toe, Kyphoscoliosis, Long fingers ORPHA:251383
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Severe intrauterine growth retardation, Postnatal growth retardation, Clinodactyly,... ORPHA:73272
Whistling Face Syndrome, Recessive Form
Shoulder flexion contracture, Short neck, Camptodactyly, Knee flexion contracture, Ulnar deviatio... OMIM:277720
Myotonia With Skeletal Abnormalities And Mental Retardation
Genu valgum, Short stature, Kyphoscoliosis, Vertebral wedging, Irregular femoral epiphysis OMIM:255710
Anauxetic Dysplasia 2
Hyperlordosis, Hypoplasia of the femoral head, Ovoid vertebral bodies, Flexion contracture, Cervi... OMIM:617396
Glycosylphosphatidylinositol Biosynthesis Defect 15
Osteoporosis, Osteopenia OMIM:617810
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Scoliosis, Osteopenia, Avascular necrosis of the capital femoral epiphysis, Short stature OMIM:611555
Cantu Syndrome
Osteoporosis, Short hallux, Platyspondyly, Erlenmeyer flask deformity of the femurs, Hypoplastic ... OMIM:239850
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Knee flexion contracture, Kyphoscoliosis ORPHA:496689
Developmental And Epileptic Encephalopathy 41
Flexion contracture, Kyphoscoliosis OMIM:617105
Contractural Arachnodactyly, Congenital
Scoliosis, Limited elbow extension, Short neck, Congenital finger flexion contractures, Limited k... OMIM:121050
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Decreased cranial base ossification, Hypoplastic ilia, Metaphyseal cu... OMIM:151210
Hypercholanemia, Familial, 2
Osteopenia OMIM:619256
Congenital Bile Acid Synthesis Defect Type 2
Osteoporosis ORPHA:79303
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Limited elbow extension, Genu valgum, Platyspondyly, Metaphyseal irregularity, Biconcave vertebra... OMIM:271510
19P13.3 Microduplication Syndrome
Hip dysplasia, Osteoporosis, Hip subluxation, Growth delay, Clinodactyly, Kyphoscoliosis, Intraut... ORPHA:447980
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Hypoplasia of the odontoid process, Kyphoscoliosis OMIM:612913
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Decreased calvarial ossification, Kyphosis, Recurrent fractures, Multip... OMIM:259440
Pigmented Villonodular Synovitis
Localized osteoporosis, Abnormal hip joint morphology, Osteolysis, Joint stiffness, Abnormal shou... ORPHA:66627
Stuve-Wiedemann Syndrome
Scoliosis, Short phalanx of finger, Pathologic fracture, Elbow flexion contracture, Femoral bowin... OMIM:601559
Kniest Dysplasia
Platyspondyly, Short neck, Coronal cleft vertebrae, Hypoplastic pelvis, Flattened, squared-off ep... OMIM:156550
Glycerol Kinase Deficiency
Osteoporosis, Growth delay, Pathologic fracture, Short stature OMIM:307030
Nemaline Myopathy 4
Flexion contracture, Kyphoscoliosis OMIM:609285
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Osteoporosis, Recurrent fractures, Long fingers, Short stature, Kyphoscoliosis, Long hallux, Hype... OMIM:309583
Rhyns Syndrome
Abnormality of long bone morphology, Hypoplastic ilia, Small epiphyses, Osteopenia, Abnormal acet... ORPHA:140976
Rhizomelic Chondrodysplasia Punctata, Type 2
Scoliosis, Disproportionate short stature, Rhizomelia, Stippled calcification proximal humeral ep... OMIM:222765
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Rhizomelia, Hypoplastic inferior ilia, Short ... OMIM:608940
Leukodystrophy, Hypomyelinating, 3
Progressive flexion contractures, Arthrogryposis multiplex congenita, Kyphoscoliosis OMIM:260600
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Fibular bowing, Subperiosteal bone resorption, Metaphyseal irregularity, Ricke... OMIM:264700
Lethal Recessive Chondrodysplasia
Short long bone, Flared elbow metaphyses, Generalized osteosclerosis ORPHA:1423
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteoporosis, Osteopenia, Increased susceptibility to fractures OMIM:612287
Intellectual Developmental Disorder, X-Linked 19
Scoliosis, Kyphoscoliosis OMIM:300844
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of finger, Growth delay, Hypophosphatemic rickets, Recurrent fractures, Short stature... OMIM:163200
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Flexion contracture, Kyphoscoliosis OMIM:607855
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Platyspondyly, Abnormal vertebral morphology, Aplasia/hypoplasia involving bones of the extremiti... ORPHA:93346
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Fibular bowing, Subperiosteal bone resorption, Metaphyseal irregularity, Ricke... OMIM:277440
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Cone-shaped epiphyses of the phalanges of the hand, Severe generalized osteoporosis, Severe short... OMIM:210730
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Short metatarsal, Short stature, Short metacarpal, Short neck, Brachydactyly OMIM:612462
Infantile Systemic Hyalinosis
Osteoporosis, Camptodactyly of finger, Growth delay, Recurrent fractures, Severe short stature, O... ORPHA:2176
Rahman Syndrome
Camptodactyly, Kyphoscoliosis OMIM:617537
Dent Disease 1
Bulging epiphyses, Fibular bowing, Metaphyseal irregularity, Rickets, Recurrent fractures, Tibial... OMIM:300009
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Short toe, Short metatarsal, Short finger, Short stature, Short metacarpal, Short n... OMIM:103580
Camptodactyly Syndrome, Guadalajara, Type Ii
Camptodactyly of finger, Short 3rd toe, Short middle phalanx of finger, Cuboid-shaped vertebral b... OMIM:211920
Mental Retardation, Autosomal Recessive 39
Short stature, Kyphoscoliosis OMIM:615541
Osteoporosis-Pseudoglioma Syndrome
Osteoporosis, Joint hypermobility, Platyspondyly, Pathologic fracture, Increased susceptibility t... OMIM:259770
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Large iliac wing, Hip subluxation, Joint laxity, Flared iliac wing, Ovoid vertebral bodies, Metat... OMIM:271640
Trichorhinophalangeal Syndrome, Type Iii
Coxa magna, Scoliosis, Short metatarsal, Short phalanx of finger, Short finger, Short foot, Short... OMIM:190351
X-Linked Hypophosphatemia
Craniosynostosis, Flared iliac wing, Generalized osteosclerosis, Bowing of the legs, Vertebral hy... ORPHA:89936
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Osteoporosis, Scoliosis, Biconcave vertebral bodies, Generalized osteoporosis, Kyphoscoliosis, Ar... OMIM:236200
Diastrophic Dwarfism
Hip dysplasia, Camptodactyly of finger, Scoliosis, Hypoplastic cervical vertebrae, Abnormality of... ORPHA:628
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Growth delay, Hypophosphatemic rickets, Reduced bone mineral density, Osteomalacia, Pathologic fr... ORPHA:157215
Congenital Bile Acid Synthesis Defect Type 1
Osteoporosis ORPHA:79301
Myopathy, Congenital, Bailey-Bloch
Flexion contracture, Short stature, Kyphoscoliosis OMIM:255995
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteoporosis, Osteopenia, Increased susceptibility to fractures OMIM:612286
Scholte Syndrome
Acromicria, Short foot, Small hand, Patellar hypoplasia, Kyphoscoliosis OMIM:300977
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Scoliosis, Joint laxity, Proportionate short stature, Down-sloping shoulders, Delayed puberty, Sl... ORPHA:391408
Cleidocranial Dysplasia
Osteoporosis, Genu valgum, Scoliosis, Abnormal thumb morphology, Abnormality of epiphysis morphol... ORPHA:1452
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteoporosis, Genu valgum, Metaphyseal sclerosis, Scoliosis, Bowing of the long bones, Postnatal ... OMIM:612199
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture, Postnatal growth retardation OMIM:179800
Hypocalcemic Vitamin D-Dependent Rickets
Subperiosteal bone resorption, Rickets, Postnatal growth retardation, Tibial bowing, Osteomalacia... ORPHA:289157
Hypophosphatasia, Adult
Rickets, Recurrent fractures, Osteomalacia, Pathologic fracture, Increased susceptibility to frac... OMIM:146300
Osteogenesis Imperfecta, Type Iv
Scoliosis, Kyphosis, Recurrent fractures, Reduced bone mineral density, Increased susceptibility ... OMIM:166220
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Growth delay, Bowing of the legs, Osteomalacia ORPHA:89937
Fanconi Renotubular Syndrome 2
Rickets, Osteopenia, Short stature OMIM:613388
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Flexion contracture, Short stature, Kyphoscoliosis, Intrauterine growth retardation, Osteopenia, ... OMIM:618005
Cerebrooculofacioskeletal Syndrome 2
Camptodactyly of finger, Rocker bottom foot, Growth delay, Kyphoscoliosis, Intrauterine growth re... OMIM:610756
Campomelic Dysplasia
Disproportionate short-limb short stature, Hypoplastic cervical vertebrae, Poorly ossified cervic... OMIM:114290
Camurati-Engelmann Disease, Type 2
Hyperostosis, Delayed puberty, Thoracolumbar scoliosis, Hip contracture, Knee flexion contracture... OMIM:606631
Acromicric Dysplasia
Short phalanx of finger, Ovoid vertebral bodies, Cone-shaped epiphysis, Severe short stature, Sho... OMIM:102370
Larsen-Like Syndrome
Joint laxity, Wide anterior fontanel, Radial deviation of the 4th finger, Short stature, Kyphosco... OMIM:608545
Roussy-Lévy Syndrome
Scoliosis, Genu valgum, Kyphoscoliosis ORPHA:3115
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Squared iliac bones, Lumbar platyspondyly, Beaking of vertebral bodies, Coarse metaphyseal trabec... OMIM:618961
Central Core Disease
Congenital hip dislocation, Multiple joint contractures, Joint laxity, Kyphoscoliosis ORPHA:597
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Platyspondyly, Hip osteoarthritis, Irregular epiphyses, Kyphosis, Hypoplastic iliac wi... OMIM:313400
Methylcobalamin Deficiency Type Cble
Osteoporosis, Scoliosis, Postnatal growth retardation, Clinodactyly, Syndactyly, Intrauterine gro... ORPHA:2169
Ichthyosis--Cheek--Eyebrow Syndrome
Kyphoscoliosis OMIM:146720
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Joint hyperflexibility, 2-3 toe syndactyly, Recurrent fractures, Postnatal growth retardation, Os... ORPHA:2324
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
4-5 toe syndactyly, Thoracic kyphosis, 2-3 toe syndactyly, Lumbar kyphosis in infancy, Lumbar hyp... ORPHA:3041
Bruck Syndrome 2
Platyspondyly, Flexion contracture, Increased susceptibility to fractures, Knee flexion contractu... OMIM:609220
Autosomal Recessive Kenny-Caffey Syndrome
Growth delay, Cortical thickening of long bone diaphyses, Postnatal growth retardation, Short foo... ORPHA:93324
Osteoporosis OMIM:616000
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis OMIM:610628
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis OMIM:271200
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Scoliosis, Generalized bone demineralization, Short phalanx of finger, Short distal phalanx of fi... OMIM:143095
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Wide anterior fontanel, Short middle phalanx of finger, Camptoda... OMIM:113000
Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome
Osteopenia, Down-sloping shoulders, Recurrent fractures ORPHA:91133
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Postaxial hand polydactyly, Tarsal synostosis, Toe syndactyly, Broad toe, Short middle phalanx of... OMIM:263540
Hemochromatosis Type 2
Osteoporosis ORPHA:79230
Stüve-Wiedemann Syndrome
Osteoporosis, Camptodactyly of finger, Genu valgum, Metaphyseal widening, Flexion contracture of ... ORPHA:3206
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hyperlordosis, Increased vertebral height, Abnormal vertebral morphology, Down-sloping shoulders,... OMIM:616817
Diamond-Blackfan Anemia 7
Osteoporosis, Scoliosis, Growth delay, Short thumb, Intrauterine growth retardation, Osteopenia, ... OMIM:612562
Primary Pigmented Nodular Adrenocortical Disease
Osteoporosis, Increased susceptibility to fractures, Short stature ORPHA:189439
Achondrogenesis, Type Ii
Broad long bones, Absent vertebral body mineralization, Hypoplastic iliac wing, Short long bone, ... OMIM:200610
Congenital Muscular Dystrophy Without Intellectual Disability
Kyphoscoliosis, Achilles tendon contracture ORPHA:370980
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Sacral dimple, Short distal phalanx of finger, Partial duplication of the phalanx of... OMIM:616331
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Genu valgum, Slender long bones with narrow diaphyses, Disharmonious carpal bone, Short stature, ... OMIM:608154
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Broad long bone diaphyses, ... OMIM:300106
Arthrogryposis, Distal, Type 2A
Scoliosis, Rocker bottom foot, Restricted neck movement due to contractures, Flexion contracture ... OMIM:193700
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Split hand, Kyphoscoliosis OMIM:607831
Sponastrime Dysplasia
Scoliosis, Hip subluxation, Joint laxity, Metaphyseal irregularity, Flattened humeral epiphyses, ... ORPHA:93357
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Carpal bone hypoplasia, Postnatal growth retardation, Anterior scallopin... OMIM:611717
Widow'S Peak Syndrome
Mild short stature, Hip osteoarthritis, Kyphosis, Narrow iliac wing, Short stature, Arthralgia/ar... OMIM:314570
Roussy-Levy Hereditary Areflexic Dystasia
Hammertoe, Kyphoscoliosis OMIM:180800
Ullrich Congenital Muscular Dystrophy 2
Joint hypermobility, Flexion contracture, Kyphoscoliosis OMIM:616470
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Osteoporosis, Scoliosis, Kyphosis, Flexion contracture OMIM:615381
Spondyloenchondrodysplasia With Immune Dysregulation
Scoliosis, Platyspondyly, Metaphyseal sclerosis, Short iliac bones, Metaphyseal irregularity, Rhe... OMIM:607944
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Thoracic kyphosis, Postnatal ... OMIM:223800
Hutchinson-Gilford Progeria Syndrome
Growth delay, Osteolysis, Generalized osteoporosis OMIM:176670
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Phalangeal dislocation, Slender long bones with... ORPHA:536467
Pseudoleprechaunism Syndrome, Patterson Type
Delayed pubic bone ossification, Metaphyseal sclerosis, Genu valgum, Flat acetabular roof, Abnorm... ORPHA:2976
Hajdu-Cheney Syndrome
Foot acroosteolysis, Osteoporosis, Genu valgum, Dislocated radial head, Joint laxity, Biconcave v... OMIM:102500
Werner Syndrome
Osteoporosis, Short stature OMIM:277700
Feingold Syndrome 2
3-4 toe syndactyly, Short middle phalanx of the 2nd finger, 2-3 toe syndactyly, Postnatal growth ... OMIM:614326
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Short neck, Atlantoaxial instability, Limited elbow extension, Genu valgum... ORPHA:239
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Platyspondyly, Craniosynostosis, Overlapping toe, Short metacarpal, Thoracolumbar scoliosis, Smal... OMIM:616723
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis OMIM:619099
Osteogenesis Imperfecta, Type Viii
Radial bowing, Scoliosis, Platyspondyly, Joint laxity, Wide anterior fontanel, Kyphosis, Recurren... OMIM:610915
Frank-Ter Haar Syndrome
Osteoporosis, Hip dysplasia, Short phalanx of finger, Wide anterior fontanel, Growth delay, Campt... OMIM:249420
You-Hoover-Fong Syndrome
Kyphoscoliosis OMIM:616954
13Q12.3 Microdeletion Syndrome
Hip dysplasia, Camptodactyly, Short stature, Kyphoscoliosis, Intrauterine growth retardation ORPHA:412035
Macs Syndrome
Osteoporosis, Joint hypermobility, Scoliosis, Short stature, Brachydactyly OMIM:613075
Mucopolysaccharidosis Type 4
Scoliosis, Genu valgum, Hyperlordosis, Platyspondyly, Abnormality of epiphysis morphology, Joint ... ORPHA:582
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Hypertrichotic Osteochondrodysplasia, Cantu Type
Osteoporosis, Short hallux, Platyspondyly, Finger syndactyly, Broad hallux phalanx, Ovoid vertebr... ORPHA:1517
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Kyphoscoliosis OMIM:117850
Ovarian Dysgenesis 8
Osteoporosis OMIM:618187
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Kyphoscoliosis OMIM:300886
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Split hand, Hammertoe, Kyphoscoliosis OMIM:118220
Arthrogryposis, Distal, Type 4
Scoliosis, Camptodactyly, Deviation of the 2nd toe, Fibular deviation of toes, Tibial deviation o... OMIM:609128
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteoporosis, Osteopenia ORPHA:529665
Thrombocytopenia 6
Osteoporosis, Myelofibrosis OMIM:616937
Congenital Disorder Of Glycosylation, Type Iin
Joint hypermobility, Osteopenia, Craniosynostosis, Short stature OMIM:616721
Patterson Pseudoleprechaunism Syndrome
Irregular acetabular roof, Genu valgum, Small cervical vertebral bodies, Cervical platyspondyly, ... OMIM:169170
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteoporosis, Osteopenia, Kyphosis OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteoporosis, Osteopenia, Kyphosis OMIM:610489
Spondyloperipheral Dysplasia
Short metatarsal, Broad thumb, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Hyperzincemia With Functional Zinc Depletion
Osteoporosis OMIM:601979
Seckel Syndrome 8
Short stature, Kyphoscoliosis OMIM:615807
Kniest Dysplasia
Joint stiffness, Delayed epiphyseal ossification, Abnormal cartilage collagen, Short neck, Verteb... ORPHA:485
Fibrous Dysplasia Of Bone
Scoliosis, Abnormality of tibia morphology, Pathologic fracture, Abnormal lumbar spine morphology... ORPHA:249
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Platyspondyly, Aplasia/Hypoplasia of the capital femoral epiphysis, Large tarsal bones, Short pha... OMIM:215150
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteoporosis, Osteolysis, Abnormal form of the vertebral bodies, Osteolysis involving bones of th... ORPHA:371428
Microphthalmia, Syndromic 13
Short stature, Kyphoscoliosis OMIM:300915
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Osteoporosis, Recurrent fractures, Reduced bone mineral density, Delayed puberty, Short stature ORPHA:2235
Ruvalcaba Syndrome
Scoliosis, Limited elbow extension, Short metatarsal, Short phalanx of finger, Kyphosis, Short me... OMIM:180870
Charcot-Marie-Tooth Disease, Type 4B2
Split hand, Hammertoe, Kyphoscoliosis OMIM:604563
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Growth delay OMIM:602722
Desbuquois Dysplasia 2
Broad thumb, Joint laxity, Short phalanx of finger, Cutaneous syndactyly, Postnatal growth retard... OMIM:615777
Hypertrophic Neuropathy Of Dejerine-Sottas
Split hand, Hammertoe, Kyphoscoliosis OMIM:145900
X Small Rings
Osteoporosis, Upper limb undergrowth, Toe syndactyly, Joint laxity, Short neck, Growth delay, 2-3... ORPHA:96201
Gorham-Stout Disease
Osteolysis, Abnormal bone ossification, Patchy reduction of bone mineral density, Abnormality of ... ORPHA:73
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Premature Aging Syndrome, Okamoto Type
Osteoporosis OMIM:601811
Foxg1 Syndrome
Scoliosis, Severe postnatal growth retardation, Short stature, Kyphoscoliosis ORPHA:561854
Cutis Laxa, Autosomal Recessive, Type Iib
Scoliosis, Joint hypermobility, Congenital hip dislocation, Bowing of the long bones, Intrauterin... OMIM:612940
Rhizomelic Syndrome, Urbach Type
Preaxial hand polydactyly, Short neck, Wide anterior fontanel, Abnormality of epiphysis morpholog... ORPHA:3098
Nail-Patella Syndrome
Scoliosis, Abnormality of tibia morphology, Iliac horns, Abnormal digit morphology, Elbow flexion... ORPHA:2614
Brown-Vialetto-Van Laere Syndrome 2
Scoliosis, Split hand, Kyphoscoliosis OMIM:614707
Diabetes Insipidus, Neurohypophyseal
Osteopenia OMIM:125700
Charcot-Marie-Tooth Disease Type 4D
Split hand, Hammertoe, Kyphoscoliosis ORPHA:99950
Osteoporosis, Scoliosis, Osteolysis, Abnormality of epiphysis morphology, Abnormal cortical bone ... ORPHA:2796
Thoracolumbar kyphosis, Limited elbow extension, Short proximal phalanx of finger, Disproportiona... ORPHA:15
Progressive Familial Intrahepatic Cholestasis
Reduced bone mineral density, Short stature ORPHA:172
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Scoliosis, Joint laxity, Metaphyseal irregularity, Carpal bone hypoplasia, Disproportionate short... OMIM:250420
Indolent Systemic Mastocytosis
Osteoporosis ORPHA:98848
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Hypercholanemia, Familial 1
Rickets OMIM:607748
Spondylometaphyseal Dysplasia, Kozlowski Type
Scoliosis, Genu valgum, Platyspondyly, Abnormality of epiphysis morphology, Kyphosis, Coxa vara, ... ORPHA:93314
Infantile-Onset X-Linked Spinal Muscular Atrophy
Arthrogryposis multiplex congenita, Interphalangeal joint contracture of finger, Knee flexion con... ORPHA:1145
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wide anterior fontanel, Increased bone mineral density, Vertebral arch anomaly, Abnormal diaphysi... ORPHA:85184
Amish Lethal Microcephaly
Osteoporosis, Limitation of joint mobility, Decreased skull ossification ORPHA:99742
Microcephalic Primordial Dwarfism, Montreal Type
Scoliosis, Kyphosis, Severe short stature, Reduced bone mineral density, Vertebral segmentation d... ORPHA:2617
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Kyphoscoliosis OMIM:605588
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Osteoporosis ORPHA:189427
Roifman Syndrome
Biconvex vertebral bodies, Delayed proximal femoral epiphyseal ossification, Broad femoral head, ... ORPHA:353298
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Scoliosis, Joint hypermobility, Craniosynostosis, Sandal gap, Shoulder dislocation, Metatarsus ad... OMIM:245600
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Split hand, Hammertoe, Kyphoscoliosis OMIM:118200
Acth-Independent Macronodular Adrenal Hyperplasia
Osteoporosis, Osteopenia, Kyphosis OMIM:219080
Mucopolysaccharidosis, Type Iiic
Ovoid thoracolumbar vertebrae, Joint stiffness, Dense calvaria, Kyphoscoliosis OMIM:252930
Pontocerebellar Hypoplasia, Type 2E
Osteoporosis, Scoliosis, Flexion contracture, Short stature OMIM:615851
Charcot-Marie-Tooth Disease Type 1A
Kyphoscoliosis ORPHA:101081
Nasu-Hakola Disease
Reduced bone mineral density, Bone cyst, Limitation of joint mobility, Abnormality of epiphysis m... ORPHA:2770
Cooper-Jabs Syndrome
Scoliosis, Camptodactyly of finger, Joint hyperflexibility, Reduced bone mineral density, Abnorma... ORPHA:1488
Estrogen Resistance Syndrome
Osteoporosis, Osteopenia, Delayed epiphyseal ossification ORPHA:785
Occipital Horn Syndrome
Scoliosis, Large iliac wing, Abnormality of fibula morphology, Aplastic clavicle, Osteoporosis, H... ORPHA:198
Brittle Cornea Syndrome
Osteoporosis, Hip dysplasia, Scoliosis, Abnormality of epiphysis morphology, Joint hyperflexibili... ORPHA:90354
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia, Short stature OMIM:134600
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Scoliosis, Joint hypermobility, Postnatal growth retardation, Clinodactyly, Small hand, Short foo... ORPHA:254531
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Kyphoscoliosis, Brachydactyly, Sandal gap OMIM:600991
Irregularity of vertebral bodies, Rhizomelia, Postnatal growth retardation, Short long bone, Flat... ORPHA:263508
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteoporosis, Osteolytic defects of the phalanges of the hand, Osteopenia, Clubbing, Limitation o... OMIM:259100
Seizures-Scoliosis-Macrocephaly Syndrome
Scoliosis, Reduced bone mineral density, Overlapping toe ORPHA:466926
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Clubbing of fingers, Generalized bone demineralization, Abnormal bone ossification, Abnormal form... ORPHA:73230
Xp21 Deletion Syndrome
Osteoporosis, Joint laxity, Finger clinodactyly, Growth delay, Reduced bone mineral density ORPHA:261476
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Scoliosis, Joint hypermobility, Recurrent fractures, Reduced bone mineral density, Short stature OMIM:619115
Mucolipidosis Iii Gamma
Scoliosis, Genu valgum, Hyperlordosis, Flared iliac wing, Kyphosis, Joint stiffness, Short statur... OMIM:252605
Craniometadiaphyseal Dysplasia
Scoliosis, Genu valgum, Wide anterior fontanel, Broad long bones, Flared metaphysis, Short statur... OMIM:269300
Immunodeficiency 31C
Osteopenia, Growth delay, Short stature, Delayed puberty OMIM:614162
Paternal Uniparental Disomy Of Chromosome 5
Kyphoscoliosis, Abnormality of fibular epiphyses, Rhizomelic arm shortening, Short lower limbs ORPHA:96190
Cole-Carpenter Syndrome 1
Orbital craniosynostosis, Scoliosis, Recurrent fractures, Short stature, Coronal craniosynostosis... OMIM:112240
Cole-Carpenter Syndrome 2
Platyspondyly, Lambdoidal craniosynostosis, Kyphosis, Narrow iliac wing, Postnatal growth retarda... OMIM:616294
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteoporosis, Osteopenia, Hypoplasia of the ulna, Scoliosis OMIM:615398
Hyperlordosis, Osteolysis, Abnormality of the vertebral column, Abnormal vertebral morphology, Ab... ORPHA:763
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Crisponi/Cold-Induced Sweating Syndrome 1
Limited elbow extension, Short neck, Camptodactyly, Adducted thumb, Radial deviation of finger, K... OMIM:272430
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Rhizomelia, Camptodactyly, Postnatal growth retardation, Small hand, Short foot, Intra... OMIM:611209
Peroxisome Biogenesis Disorder 3B
Osteoporosis OMIM:266510
Congenital Contractural Arachnodactyly
Scoliosis, Camptodactyly of finger, Arthrogryposis multiplex congenita, Flexion contracture, Cong... ORPHA:115
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Short phalanx of finger, Finger syndactyly, Short metacarpal, Sandal gap, Short stature, Short fo... OMIM:264475
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Delayed pubic bone ossification, Atlantoaxial instability, Platyspondyly, Ovoid verteb... OMIM:183900
Anauxetic Dysplasia 3
Genu valgum, Joint hypermobility, Hip subluxation, Squared iliac bones, Platyspondyly, Wide anter... OMIM:618853
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Autosomal Recessive Spastic Paraplegia Type 23
Hip dislocation, Short stature, Kyphoscoliosis ORPHA:101003
Spinocerebellar Ataxia-Dysmorphism Syndrome
Joint hyperflexibility, Slender long bone, Reduced bone mineral density, Short stature, Spina bif... ORPHA:1185
Mcdonough Syndrome
Kyphoscoliosis, Clinodactyly, Short stature, Radial deviation of finger OMIM:248950
Classical-Like Ehlers-Danlos Syndrome Type 2
Joint hypermobility, Phalangeal dislocation, Thoracic scoliosis, Kyphosis, Sacral dimple, Sandal ... ORPHA:536532
Warburg Micro Syndrome 3
Clinodactyly of the 5th finger, Flexion contracture, Postnatal growth retardation, Kyphoscoliosis OMIM:614222
Cutis Laxa, Autosomal Dominant 3
Postnatal growth retardation, Intrauterine growth retardation, Osteopenia, Hip dislocation, Adduc... OMIM:616603
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Congenital foot contractures, Kyphosis, Clinodactyly of the 5th finger, Limitation of ... ORPHA:3454
Ataxia-Oculomotor Apraxia Type 4
Abnormality of toe, Kyphoscoliosis ORPHA:459033
Cardiofaciocutaneous Syndrome 3
Scoliosis, Reduced bone mineral density, Short neck, Short stature OMIM:615279
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteoporosis, Osteopenia OMIM:615830
Classic Galactosemia
Osteoporosis, Reduced bone mineral density, Delayed puberty ORPHA:79239
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Short stature OMIM:611590
Coffin-Siris Syndrome 6
Clinodactyly, Brachydactyly, Short stature, Kyphoscoliosis OMIM:617808
Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Joint hypermobility, Slender long bones with narrow diaphyses, Partial duplication of ... ORPHA:536471
Three M Syndrome 1
Hyperlordosis, Joint hypermobility, Increased vertebral height, Short neck, Hypoplastic pelvis, G... OMIM:273750
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Scoliosis, 2-3 toe syndactyly, Short stature, Kyphoscoliosis ORPHA:391307
Disorder Of Sex Development-Intellectual Disability Syndrome
Genu valgum, Kyphosis, Reduced bone mineral density, Spina bifida occulta, Short neck ORPHA:2983
Osteogenesis Imperfecta, Type Xvi
Rhizomelia, Osteopenia, Vertebral compression fracture, Joint hypermobility OMIM:616229
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Split hand, Short stature, Kyphoscoliosis OMIM:604168
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Epiphyseal stippling, Wide anterior fontanel, ... OMIM:619135
Linear Verrucous Nevus Syndrome
Scoliosis, Reduced bone mineral density, Toe syndactyly, Short metacarpal ORPHA:2611
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Large iliac wing, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Aplastic cl... ORPHA:2636
Platyspondyly, Disproportionate short stature, Sclerosis of hand bone, Progressive bowing of long... OMIM:224300
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal widening, Joint laxity, Broad tibial metaphyses, Aplasia/Hypoplasia of metatarsal bon... ORPHA:2502
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Scoliosis, Severe short stature, Metaphyseal dysplasia, Clinodactyly, Intrauterine growth retarda... OMIM:618336
46,Xx Gonadal Dysgenesis
Reduced bone mineral density, Osteoporosis of vertebrae, Delayed puberty, Short stature, Osteopen... ORPHA:243
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Rocker bottom foot, 4-5 toe syndactyly, Joint laxity, Overlapping toe, Short foot, Brachydactyly,... ORPHA:488642
Cardiac-Valvular Ehlers-Danlos Syndrome
Joint hypermobility, Genu valgum, Recurrent shoulder dislocation, Absent phalangeal crease, Sanda... ORPHA:230851
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Abnormality of epiphysis morphology, Recurrent fractures, Osteopetrosis, Reduced bon... ORPHA:2785
Charcot-Marie-Tooth Disease, Type 4A
Split hand, Hammertoe, Kyphoscoliosis OMIM:214400
Metaphyseal Chondrodysplasia, Jansen Type
Clubbing of fingers, Metaphyseal chondrodysplasia, Bowing of the long bones, Metaphyseal cupping,... OMIM:156400
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Short neck, Camptodactyly, Broad long bones, Bowing of the long bones, Severe short stature, Shor... OMIM:224400
Mitochondrial Complex I Deficiency, Nuclear Type 8
Kyphoscoliosis OMIM:618230
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Scoliosis, Genu valgum, Hyperlordosis, Congenital hip dislocation, Metaphyseal irregularity, Abno... OMIM:616007
Combined Oxidative Phosphorylation Deficiency 32
Flexion contracture, Kyphoscoliosis OMIM:617664
Acrorenal-Mandibular Syndrome
Hypoplasia of the radius, Rudimentary fibula, Hand polydactyly, Toe syndactyly, Split hand, Hypop... OMIM:200980
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Mucolipidosis Iii Alpha/Beta
Scoliosis, Irregular carpal bones, Craniosynostosis, Split hand, Carpal bone hypoplasia, Short lo... OMIM:252600
Prader-Willi Syndrome
Osteoporosis, Hip dysplasia, Genu valgum, Scoliosis, Acromicria, Kyphosis, Radial deviation of fi... OMIM:176270
Arthrogryposis Multiplex Congenita 5
Scoliosis, Rocker bottom foot, Arthrogryposis multiplex congenita, Short neck, Growth delay, Camp... OMIM:618947
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Scoliosis, Platyspondyly, Postnatal growth retardation, Pathologic fracture, Intrauterine growth ... OMIM:612394
Familial Isolated Hyperparathyroidism
Osteopenia, Generalized osteoporosis ORPHA:99879
Dyskeratosis Congenita, Autosomal Dominant 2
Osteoporosis, Short stature OMIM:613989
Lowry-Maclean Syndrome
Osteoporosis, Craniosynostosis, Growth delay, Intrauterine growth retardation, Osteopenia ORPHA:2409
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemic rickets, Short stature OMIM:612089
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Osteopenia, Down-sloping shoulders, Short clavicles OMIM:212112
Laron Syndrome
Short long bone, Severe short stature, Delayed menarche OMIM:262500
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Intrauterine growth retardation, Osteopenia, Growth delay OMIM:617341
Monosomy 18P
Short neck, Brachydactyly, Short stature, Kyphoscoliosis ORPHA:1598
De Barsy Syndrome
Congenital hip dislocation, Generalized joint laxity, Postnatal growth retardation, Coxa vara, Sh... ORPHA:2962
Saul-Wilson Syndrome
Platyspondyly, Short metatarsal, Wide anterior fontanel, Postnatal growth retardation, Short dist... OMIM:618150
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteoporosis, Joint hypermobility, Scoliosis, Atlantoaxial instability, Congenital hip dislocatio... ORPHA:536545
Atelosteogenesis Type I
Scoliosis, Platyspondyly, Short femur, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Acrootoocular Syndrome
Prominent calcaneus, Short toe, Short finger, Abnormal finger flexion creases, Sandal gap, Short ... ORPHA:2980
Schwartz-Jampel Syndrome
Scoliosis, Arthrogryposis multiplex congenita, Increased bone mineral density, Joint stiffness, W... ORPHA:800
Occipital Horn Syndrome
Osteoporosis, Limited elbow extension, Genu valgum, Platyspondyly, Joint laxity, Limited knee ext... OMIM:304150
Progeria-Short Stature-Pigmented Nevi Syndrome
Short distal phalanx of finger, Delayed puberty, Generalized osteoporosis, Multiple joint contrac... ORPHA:2959
Campomelic Dysplasia
Scoliosis, Poorly ossified cervical vertebrae, Hypoplastic inferior ilia, Kyphosis, Bowing of the... ORPHA:140
Dyskeratosis Congenita, Autosomal Dominant 3
Intrauterine growth retardation, Osteoporosis, Growth delay, Short stature OMIM:613990
Rothmund-Thomson Syndrome Type 2
Metaphyseal sclerosis, Short phalanx of finger, Abnormal trabecular bone morphology, Synostosis i... ORPHA:221016
Basal Cell Nevus Syndrome
Irregular ossification of hand bones, Short 4th metacarpal, Scoliosis, Polydactyly, Down-sloping ... OMIM:109400
Kallmann Syndrome-Heart Disease Syndrome
Osteoporosis, Growth delay, Delayed puberty, Short stature, Osteopenia ORPHA:2326
Lipodystrophy, Congenital Generalized, Type 4
Osteoporosis, Hyperlordosis, Scoliosis, Flexion contracture, Spinal rigidity, Osteopenia OMIM:613327
Osteogenesis Imperfecta
Scoliosis, Joint hypermobility, Abnormality of long bone morphology, Abnormality of tibia morphol... ORPHA:666
Acth-Independent Macronodular Adrenal Hyperplasia 2
Osteoporosis OMIM:615954
Pontocerebellar Hypoplasia, Type 10
Growth delay, Kyphoscoliosis OMIM:615803
Aromatase Deficiency
Osteoporosis, Genu valgum, Growth delay, Delayed epiphyseal ossification, Osteopenia ORPHA:91
Charcot-Marie-Tooth Disease, Type 4K
Kyphoscoliosis OMIM:616684
Dysostosis, Stanescu Type
Scoliosis, Hyperlordosis, Massively thickened long bone cortices, Abnormality of epiphysis morpho... ORPHA:1798
Chondrodysplasia Punctata, Autosomal Dominant
Scoliosis, Epiphyseal stippling, Moderate postnatal growth retardation, Knee flexion contracture,... OMIM:118650
Chromosome 2P16.1-P15 Deletion Syndrome
Camptodactyly, Metatarsus adductus, Calcaneovalgus deformity, Joint contracture of the hand, Shor... OMIM:612513
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteoporosis, Growth delay, Kyphosis, Lumbar hyperlordosis, Delayed puberty, Contracture of the p... ORPHA:2232
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Short stature, Kyphoscoliosis ORPHA:3077
9Q21.13 Microdeletion Syndrome
Scoliosis, Hip dysplasia, Craniosynostosis, Polydactyly, Postnatal growth retardation, Vertebral ... ORPHA:531151
Rothmund-Thomson Syndrome Type 1
Metaphyseal sclerosis, Short phalanx of finger, Abnormal trabecular bone morphology, Growth delay... ORPHA:221008
Dent Disease
Bulging epiphyses, Metaphyseal irregularity, Enlarged epiphyses, Rickets, Recurrent fractures, Os... ORPHA:1652
Dystonia, Juvenile-Onset
Hypoplastic scapulae, Kyphoscoliosis OMIM:607371
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling, Proportionate short stature, Short distal phalanx of toe, Postnatal growth ... ORPHA:79345
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Atlantoaxial instability, Osteopenia, Kyphoscoliosis OMIM:614557
Neu-Laxova Syndrome
Osteoporosis, Scoliosis, Arthrogryposis multiplex congenita, Rickets, Flexion contracture, Osteom... ORPHA:2671
Hajdu-Cheney Syndrome
Osteoporosis, Scoliosis, Short toe, Osteolysis, Hypoplastic 5th lumbar vertebrae, Biconcave verte... ORPHA:955
Premature Aging Syndrome, Penttinen Type
Scoliosis, Slender long bone, Osteopenia, Brachydactyly, Osteolytic defects of the phalanges of t... OMIM:601812
Galloway-Mowat Syndrome 7
Partial duplication of thumb phalanx, Clinodactyly, Short stature, Kyphoscoliosis, Arachnodactyly... OMIM:618348
Roifman-Chitayat Syndrome
Short metatarsal, Cone-shaped epiphysis, Short metacarpal, Osteopenia, Short neck, Arthritis OMIM:613328
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Short stature OMIM:616026
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Iliac crest serration, Flat... OMIM:250220
Marshall-Smith Syndrome
Scoliosis, Craniosynostosis, Joint hyperflexibility, Bowing of the long bones, Slender long bone,... ORPHA:561
Emanuel Syndrome
Scoliosis, Congenital hip dislocation, Growth delay, Sacral dimple, Multiple joint contractures, ... ORPHA:96170
Cole-Carpenter Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Joint hyperflexibility, Kyphosis, Bowing of the... ORPHA:2050
Magel2-Related Prader-Willi-Like Syndrome
Osteoporosis, Hip dysplasia, Scoliosis, Kyphosis, Flexion contracture, Small hand, Short stature,... ORPHA:398069
Pituitary Adenoma 4, Acth-Secreting
Osteoporosis, Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies OMIM:219090
Thanatophoric Dysplasia, Type I
Lethal short-limbed short stature, Metaphyseal irregularity, Hypoplastic ilia, Short greater scia... OMIM:187600
Osteogenesis Imperfecta, Type Xx
Multiple prenatal fractures, Kyphoscoliosis, Intrauterine growth retardation, Vertebral compressi... OMIM:618644
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Re... ORPHA:2909
Niemann-Pick Disease, Type A
Osteoporosis, Short stature OMIM:257200
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteoporosis, Generalized joint laxity, Camptodactyly, Delayed puberty, Osteopenia ORPHA:432
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Short long bone, Vertebral segmentation defect, Sacral dimple OMIM:618845
Melnick-Needles Syndrome
Limited elbow extension, Genu valgum, Hypoplastic scapulae, Short humerus, Short distal phalanx o... OMIM:309350
Propionic Acidemia
Osteoporosis, Short stature OMIM:606054
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Genu valgum, Joint laxity, Postnatal growth retardation, Metatarsus adductus, Small hand, Short f... ORPHA:300570
Tatton-Brown-Rahman Syndrome
Joint hypermobility, Widely spaced toes, Proportionate short stature, Short toe, Kyphoscoliosis ORPHA:404443
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Osteoporosis, Distal joint laxity, Hip subluxation, Thoracic kyphoscoliosis, Generalized joint la... ORPHA:1900
Hyperparathyroidism, Transient Neonatal
Osteopenia, Femoral bowing OMIM:618188
Allan-Herndon-Dudley Syndrome
Flexion contracture, Short stature, Kyphoscoliosis ORPHA:59
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia