Gene Summary

Name:
solute carrier family 26 (sulfate transporter), member 2
Synonyms:
ST-OB,  Dtd

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
impaired glucose tolerance Slc26a2em1(IMPC)Bay HET Early adult 5.22×10-07
abnormal tail morphology Slc26a2em1(IMPC)Bay HOM E18.5 0.00
abnormal facial morphology Slc26a2em1(IMPC)Bay HOM E18.5 0.00
protruding tongue Slc26a2em1(IMPC)Bay HOM E18.5 0.00
preweaning lethality, complete penetrance Slc26a2em1(IMPC)Bay HOM   Early adult 0.00
abnormal limb morphology Slc26a2em1(IMPC)Bay HOM E18.5 0.00

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Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Eye Morphology

VIP of left fundus

17 Images

Eye Morphology

VIP of left eye

17 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Eye Morphology

VIP of right fundus

16 Images

Eye Morphology

VIP of right eye

17 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Human diseases caused by Slc26a2 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 predicted to be associated to Slc26a2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus OMIM:167755
Spondyloepimetaphyseal Dysplasia, Missouri Type
Disproportionate short stature, Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flatt... ORPHA:93356
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Kyphosis, Severe short stature, Delayed eruption of permanent tee... OMIM:112350
Multiple Epiphyseal Dysplasia, Lowry Type
Scoliosis, Genu valgum, Abnormal bone ossification, Elbow dislocation, Rhizomelia, Flattened epip... ORPHA:166016
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Abnormality of tibia morphology, Abnormal form of the vertebral b... ORPHA:3344
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Scoliosis, Carious teeth, Metaphyseal chondrodysplasia, Disproportionate short sta... ORPHA:2501
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Generalized bone demineralization, Metaphyseal irregularity, Spar... OMIM:600785
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Short finger, Rhiz... OMIM:608940
Brachyolmia Type 1, Hobaek Type
Scoliosis, Squared-off platyspondyly, Short iliac bones, Flattened proximal radial epiphyses, Kyp... OMIM:271530
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Enlarged epiphyses, Camptodactyly, Short stature, Joint contracture of the hand, Os... OMIM:264010
Shox-Related Short Stature
Scoliosis, Cubitus valgus, Genu valgum, Short neck, Ulnar radial head dislocation, Madelung defor... ORPHA:314795
Parastremmatic Dwarfism
Scoliosis, Genu valgum, Kyphosis, Flexion contracture, Severe short stature, Short neck OMIM:168400
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Tibial bowing, Abnormality... ORPHA:2768
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Femoral bowing, Platyspondyly, Flared iliac wing, Rhizome... OMIM:602111
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Disproportionate short stature, Ovoid vertebral bodies, Short long bone, Co... OMIM:611702
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Platyspondyly, Metaphyseal chondrodysplasia, Mild short stature, Short... OMIM:156500
Osteogenesis Imperfecta, Type Iii
Scoliosis, Wormian bones, Protrusio acetabuli, Neonatal short-limb short stature, Wide anterior f... OMIM:259420
Atelosteogenesis, Type Iii
Widened distal phalanges, Radial bowing, Scoliosis, Cervical segmentation defect, Short neck, Elb... OMIM:108721
Leri-Weill Dyschondrosteosis
Scoliosis, Limited wrist movement, Dorsal subluxation of ulna, Abnormality of the metacarpal bone... OMIM:127300
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Scoliosis, Craniosynostosis, Short phalanx of finger, Cone-shaped epiphyses ... OMIM:250215
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Scoliosis, Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Severe short ... OMIM:618728
Otospondylomegaepiphyseal Dysplasia
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Short neck, Micrognathi... ORPHA:1427
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Scoliosis, Irregularity of vertebral bodies, Abnormal hip joint morpho... ORPHA:1159
Geographic And Fissured Tongue
Furrowed tongue, Geographic tongue OMIM:137400
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Mandibular prognathia, Thorac... OMIM:223800
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic rickets, Tibial bowing, ... OMIM:307800
Hip Dysplasia, Beukes Type
Hip dysplasia, Scoliosis, Abnormal bone ossification, Abnormal ossification involving the femoral... ORPHA:2114
Hypochondroplasia
Limited elbow extension, Childhood onset short-limb short stature, Malar flattening, Lumbar hyper... OMIM:146000
Geroderma Osteodysplasticum
Osteoporosis, Wormian bones, Platyspondyly, Biconcave vertebral bodies, Hypoplasia of the maxilla... OMIM:231070
Progressive Pseudorheumatoid Dysplasia
Metaphyseal widening, Camptodactyly of finger, Platyspondyly, Osteoporosis, Enlarged interphalang... OMIM:208230
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Elbow dislocation, Dorsal subluxation of... ORPHA:240
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... ORPHA:750
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, R... OMIM:600081
Gnathodiaphyseal Dysplasia
Scoliosis, Bowing of the long bones, Recurrent fractures, Broad jaw, Osteopenia, Mandibular osteo... ORPHA:53697
Tibial Torsion, Bilateral Medial
Scoliosis, Abnormality of tibia morphology, Bowing of the legs, Tibial torsion OMIM:188800
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Genu valgum, Platyspondyly, Upper limb undergrowth, Short metatarsal, Disproportion... ORPHA:93351
Fibular Hemimelia
Craniosynostosis, Hip subluxation, Joint laxity, Structural foot deformity, Bowing of the legs, J... ORPHA:93323
Caffey Disease
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs, Cortical irregula... OMIM:114000
Blount Disease, Adolescent
Bowing of the legs, Osteochondritis Dissecans, Genu varum OMIM:259200
Avascular Necrosis Of Femoral Head, Primary, 1
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis OMIM:608805
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density, ... OMIM:166740
Winchester Syndrome
Osteolysis involving bones of the upper limbs, Generalized osteoporosis, Osteolysis involving bon... OMIM:277950
Mueller-Weiss Syndrome
Fragmented, irregular epiphyses, Chondritis, Limitation of movement at ankles, Abnormality of the... ORPHA:566943
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Limited wrist movement, Localized osteoporosis, Joint swelling, Thoracic kyphosis, Fla... ORPHA:93284
Osteogenesis Imperfecta, Type Ii
Wormian bones, Platyspondyly, Broad long bones, Absent ossification of calvaria, Recurrent fractu... OMIM:166210
Epiphyseal Dysplasia, Multiple, 2
Mild short stature, Irregular epiphyses, Epiphyseal dysplasia, Genu varum, Flattened epiphysis, K... OMIM:600204
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Osteoporosis, Hip dislocation, Hip subluxation, Recurrent fractures OMIM:256720
Metaphyseal Dysplasia, Spahr Type
Genu valgum, Metaphyseal sclerosis, Metaphyseal chondrodysplasia, Disproportionate short stature,... OMIM:250400
Desbuquois Dysplasia 1
Scoliosis, Short metatarsal, Joint laxity, Phalangeal dislocation, Broad first metatarsal, Pes pl... OMIM:251450
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Vitamin D-Dependent Rickets, Type 2A
Enlargement of the ankles, Bulging epiphyses, Enamel hypoplasia, Subperiosteal bone resorption, C... OMIM:277440
Poirier-Bienvenu Neurodevelopmental Syndrome
Protruding tongue, Downturned corners of mouth, Smooth philtrum, Open mouth OMIM:618732
Bruck Syndrome 1
Scoliosis, Platyspondyly, Osteoporosis, Protrusio acetabuli, Joint laxity, Kyphosis, Coxa vara, P... OMIM:259450
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enlargement of the ankles, Bulging epiphyses, Enamel hypoplasia, Subperiosteal bone resorption, D... OMIM:264700
Stuve-Wiedemann Syndrome
Scoliosis, Abnormal dental enamel morphology, Short phalanx of finger, Pathologic fracture, Elbow... OMIM:601559
Metaphyseal Dysplasia Without Hypotrichosis
Abnormality of the vertebral column, Metaphyseal irregularity, Joint laxity, Metaphyseal cupping ... OMIM:250460
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Hypophosphatemic Rickets, X-Linked Recessive
Enlargement of the ankles, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, R... OMIM:300554
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Genu valgum, Hyperlordosis, Mild short stature, Metaphyseal irregularity, Pes planus, ... ORPHA:93315
Odontochondrodysplasia 1
Scoliosis, Joint hypermobility, Short phalanx of finger, Flared iliac wing, Flat acetabular roof,... OMIM:184260
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
Osteogenesis Imperfecta, Type Viii
Radial bowing, Wormian bones, Scoliosis, Platyspondyly, Wide anterior fontanel, Joint laxity, Ext... OMIM:610915
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Mild short stature, Flat acetabular roof, Monkey wrench femoral neck, Genu varum, ... OMIM:617719
Spondylometaphyseal Dysplasia, Corner Fracture Type
Scoliosis, Metaphyseal irregularity, Ovoid vertebral bodies, Coxa vara, Hyperconvex vertebral bod... OMIM:184255
Pyle Disease
Scoliosis, Limited elbow extension, Delayed eruption of teeth, Genu valgum, Carious teeth, Platys... OMIM:265900
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Platyspondyly, Flexion contracture, Absent ossification of capital femoral epiphysis, Tibial bowi... OMIM:245160
Grant Syndrome
Wormian bones, Down-sloping shoulders, Micrognathia, Tibial bowing OMIM:138930
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Amelogenesis imperfecta, Joint laxity, Growth delay, Metaphyseal dysplasia, Short s... OMIM:614727
Chondroectodermal Dysplasia With Night Blindness
Abnormality of the knee, Platyspondyly, Osteoporosis, Metaphyseal irregularity, Micrognathia, Met... ORPHA:319195
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the ankles, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, R... OMIM:241530
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Short phalanx of finger, Mild short stature, Generalized joint laxity, Hip osteoarth... OMIM:132400
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Carious teeth, Pes planus, Small epiphyses, Short femoral neck, Advanced ossification ... OMIM:618363
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Disproportionate short-limb short s... ORPHA:174
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Disproportionate short stature, Abnormal form of the vertebral bodies, ... ORPHA:40
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Genu valgum, Platyspondyly, Decreased hip abduction, Thoracic kyphosis, Irregular vert... OMIM:609223
Hydrocephalus With Associated Malformations
Tibial bowing, Lower limb undergrowth, Short lower limbs, Intrauterine growth retardation, Microg... OMIM:236640
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Metaphyseal Anadysplasia 2
Metaphyseal widening, Short femoral neck, Bowing of the legs, Metaphyseal irregularity OMIM:613073
Metatropic Dysplasia
Scoliosis, Arthrogryposis multiplex congenita, Dumbbell-shaped metaphyses, Absent primary metaphy... OMIM:156530
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Tibial bowing, Abnormally ossified vertebrae, Lower limb... ORPHA:3035
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Increased bone mineral density, Rickets of the lower limbs, Pseudo-fractures, P... ORPHA:289176
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Delayed eruption of teeth, Platyspondyly, Cone-shaped epiphysis, Short stature, Den... ORPHA:71267
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Pierre-Robin sequence, Short distal phalanx o... OMIM:311895
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flat distal femoral epiphysis, Genu valgum, Proximal femoral metaphyseal irregularity, Platyspond... OMIM:609324
Multiple Epiphyseal Dysplasia Type 1
Hip dysplasia, Genu valgum, Disproportionate short stature, Finger joint hypermobility, Short lon... ORPHA:93308
Bruck Syndrome
Scoliosis, Wormian bones, Platyspondyly, Osteoporosis, Arthrogryposis multiplex congenita, Kyphos... ORPHA:2771
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Wormian bones, Joint hyperflexibility, Short distal phalanx of finger, Brachydactyly ORPHA:2787
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Enamel hypoplasia, Delayed eruption of teeth, Subperiosteal bone resor... ORPHA:289157
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Fused fourth and fifth metacarpals, Toe syndactyly, Growth delay, Foo... OMIM:206920
Dysspondyloenchondromatosis
Scoliosis, Genu valgum, Platyspondyly, Enlarged joints, Metaphyseal enchondromatosis, Anisospondy... ORPHA:85198
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Osteoarthritis of the elbow, Protrusio acetabuli, Short toe, Stiff shoulders, Hip ... ORPHA:2619
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Childhood o... OMIM:177170
Atelosteogenesis, Type I
Short metatarsal, Elbow dislocation, Thoracic platyspondyly, Multinucleated giant chondrocytes in... OMIM:108720
Spondylometaphyseal Dysplasia, Schmidt Type
Genu valgum, Platyspondyly, Hypoplastic pelvis, Short long bone, Metaphyseal dysplasia, Joint dis... ORPHA:93316
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Generalized joint laxity, Lumbar hyperlordosis, Irregular patellae, Patellar hypoplasia, Genu var... OMIM:609325
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Postnatal growth retardation, Short distal phalanx of finger, Ulnar bowing, Na... OMIM:210720
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Hypoplasia of the capital femoral epiphysis, Metaphyseal irregularity, Delayed ossif... OMIM:607078
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Abnormality of the metacarpal bones, Cleft palate, Hand oligodactyl... ORPHA:3104
Osteogenesis Imperfecta, Type Xxi
Scoliosis, Wormian bones, Platyspondyly, Joint hypermobility, Osteoporosis, Pes planus, Recurrent... OMIM:619131
Achondroplasia
Limited elbow extension, Limited hip extension, Generalized joint laxity, Trident hand, Rhizomeli... OMIM:100800
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Scoliosis, Platyspondyly, Osteoporosis, Hypoplasia of the primary teeth, Kypho... OMIM:234250
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Osteoporosis, Enlarged joints, Joint laxity, Recurrent fractures, Short stature, Epiphyseal dyspl... OMIM:248010
Otopalatodigital Syndrome, Type Ii
Wormian bones, Delayed closure of the anterior fontanelle, Nonossified fifth metatarsal, Short me... OMIM:304120
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Flat acetabular roof, Small epiphyses, Short femoral neck, Short neck, Micrognathia, O... ORPHA:94068
Campomelic Dysplasia
Scoliosis, Short neck, Poorly ossified cervical vertebrae, Hypoplastic inferior ilia, Kyphosis, B... ORPHA:140
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613375
Extensor Tendons Of Finger Anomalies
Osteoporosis, Camptodactyly of finger, Limitation of joint mobility ORPHA:3294
Dent Disease 1
Enlargement of the ankles, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, R... OMIM:300009
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Abnormal form of the vertebral bodies, Craniofacial hyperostosis... ORPHA:1802
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Beaking of vertebral bodies, Hypoplastic ilia, Trismus, Joint stiffness, Kyphoscol... OMIM:616583
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Platyspondyly, Irregular epiphyses, Ovoid vertebral bodies, Narrow iliac... OMIM:608728
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Protruding tongue, Macroglossia OMIM:227250
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Diabetes mellitus, Hyperinsulinemic hypoglycemia, Glucose intolerance OMIM:147630
Prieto X-Linked Mental Retardation Syndrome
Osteoporosis, Patellar subluxation, Radial deviation of finger, Clinodactyly, Talipes equinovarus... OMIM:309610
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Scoliosis, Generalized bone demineralization, Short phalanx of finger, Elbow dislocation, Pes pla... OMIM:143095
Mucopolysaccharidosis, Type Iva
Scoliosis, Carious teeth, Constricted iliac wing, Joint laxity, Mandibular prognathia, Large elbo... OMIM:253000
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Platyspondyly, Delayed ossification of carpal bones, Metaphyseal dyspl... OMIM:617974
Calvarial Doughnut Lesions With Bone Fragility
Scoliosis, Platyspondyly, Carious teeth, Osteoporosis, Recurrent fractures, Severe short stature,... OMIM:126550
Osteogenesis Imperfecta, Type Xii
Scoliosis, Wormian bones, Delayed eruption of teeth, Osteoporosis, Generalized osteoporosis, Shor... OMIM:613849
Urban-Rogers-Meyer Syndrome
Osteoporosis, Camptodactyly of finger, Toe syndactyly, Short neck, Abnormality of epiphysis morph... ORPHA:3409
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Scoliosis, Osteoporosis, Delayed thelarche, Joint laxity, Delayed puberty, Short stature, Short neck OMIM:616033
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
Diastrophic Dysplasia
Costal cartilage calcification, Talipes equinovarus, Neonatal short-limb short stature, Hypoplast... OMIM:222600
Geroderma Osteodysplastica
Scoliosis, Platyspondyly, Osteoporosis, Abnormal bone ossification, Abnormality of epiphysis morp... ORPHA:2078
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Retrognathia, Micrognathia... OMIM:249710
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia, Delayed puberty OMIM:615270
Hypochondroplasia
Scoliosis, Hyperlordosis, Short toe, Childhood onset short-limb short stature, Abnormal form of t... ORPHA:429
Insulin-Like Growth Factor I Deficiency
Radial deviation of finger, Clinodactyly, Short stature, Intrauterine growth retardation, Osteope... OMIM:608747
Cerebrooculofacioskeletal Syndrome 1
Osteoporosis, Rocker bottom foot, Arthrogryposis multiplex congenita, Micrognathia, Camptodactyly... OMIM:214150
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis, Patellar subluxation, Finger clinodactyly, Bilateral talipes equinovarus, Retrognat... ORPHA:2958
Pigmented Villonodular Synovitis
Abnormality of the knee, Localized osteoporosis, Abnormal hip joint morphology, Joint swelling, O... ORPHA:66627
Mucopolysaccharidosis, Type Ivb
Scoliosis, Genu valgum, Carious teeth, Hyperlordosis, Platyspondyly, Constricted iliac wing, Join... OMIM:253010
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Kyphomelic Dysplasia
Radial bowing, Platyspondyly, Short femur, Disproportionate short stature, Micrognathia, Dumbbell... OMIM:211350
Dyssegmental Dysplasia With Glaucoma
Platyspondyly, Wide anterior fontanel, Broad long bones, Short long bone, Flared metaphysis, Shor... OMIM:601561
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Platyspondyly, Short middle phalanx of the 2nd finger, Short ... OMIM:156510
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Decreased hip abduction, Flared iliac wing, Rhizomelia... OMIM:183849
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Pes planus, Flat acetabular roof, Narrow greater sciatic notch, Cone-shaped epiphyses ... OMIM:609616
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Platyspondyly, Metaphyseal irregularity, Proportionate short stature, Joint contract... OMIM:601668
Eiken Syndrome
Short phalanx of finger, Metaphyseal irregularity, Thin bony cortex, Delayed epiphyseal ossificat... ORPHA:79106
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Scoliosis, Congenital hip dislocation, Metaphyseal irregularity, Posterior scalloping of vertebra... OMIM:603546
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
Smith-Mccort Dysplasia 1
Scoliosis, Genu valgum, Atlantoaxial instability, Multicentric femoral head ossification, Platysp... OMIM:607326
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Coronal cleft vertebrae, Limb u... OMIM:118651
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular carpal bones, Hip subluxation, Carpal bone hypoplasia, Ivory epiphyses of the phalanges... OMIM:226980
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hip joint morphology, Flattened femoral head, Thoracic platyspondy... ORPHA:166011
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limited elbow extension, Enlarged joints, Limb undergrowth, Lumbar hyperlordosis, Bowing of the l... ORPHA:156728
Campomelic Dysplasia
Disproportionate short-limb short stature, Neonatal short-limb short stature, Wide anterior fonta... OMIM:114290
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Scoliosis, Camptodactyly of finger, Osteoporosis, Kyphosis, Short stature, Abnormality of the cer... ORPHA:48431
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth, Osteoporosis, Short metatarsal, Short stature, Shor... OMIM:612463
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Mild short stature, Joint laxity, Kyphosis, Malar flattening, Increased susceptibility... OMIM:130060
Brachyolmia Type 1, Toledo Type
Squared-off platyspondyly, Broad tibial metaphyses, Childhood-onset short-trunk short stature, Ba... OMIM:271630
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Wormian bones, Foot acroosteolysis, Hyperlordosis, Osteolysis, Abnormali... ORPHA:970
Congenital Insensitivity To Pain With Severe Intellectual Disability
Rocker bottom foot, Recurrent fractures, Talipes equinovalgus, Limb undergrowth, Tibial bowing, C... ORPHA:453510
Spondyloepiphyseal Dysplasia, Kimberley Type
Genu valgum, Platyspondyly, Proportionate short stature, Genu varum, Flat capital femoral epiphysis OMIM:608361
Immunodeficiency 12
Osteoporosis, Growth delay OMIM:615468
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Scoliosis, Abnormal form of the vertebral bodies, Abnormality of the metacarpal bo... ORPHA:2370
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormality of limb bone morphology, Joint swelling, Abnormality of epiphysis morphology, Synovit... ORPHA:85435
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Osteogenesis Imperfecta, Type Xiii
Scoliosis, Wormian bones, Dislocated radial head, Platyspondyly, Joint hypermobility, Osteoporosi... OMIM:614856
Isolated Glycerol Kinase Deficiency
Scoliosis, Osteoporosis, Hyperlordosis, Short stature ORPHA:408
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Scoliosis, Multiple joint dislocation, Hip subluxation, Joint laxity, Metaphyseal irregularity, D... ORPHA:93360
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed closure of the anterior fontanelle, Metatarsal osteolysis, Split hand, Pes planus, Interp... OMIM:259600
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Genu valgum, Abnormality of epiphysis morphology, Abnormality of the epi... ORPHA:166002
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Tarsal synostosis, Broad thumb, Elbow dislocation, Abnormality of t... ORPHA:1106
Flynn-Aird Syndrome
Osteoporosis, Carious teeth, Increased bone density with cystic changes, Increased bone mineral d... OMIM:136300
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Cranioectodermal Dysplasia
Osteoporosis, Abnormal dental enamel morphology, Craniosynostosis, Taurodontia, Finger syndactyly... ORPHA:1515
Epiphyseal Dysplasia, Multiple, 4
Hip dysplasia, Scoliosis, Limited elbow flexion, Epiphyseal dysplasia, Double-layered patella, Sh... OMIM:226900
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal enchondral ossificat... ORPHA:2635
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Preaxial hand polydactyly, Short neck, Wide anterior fontanel, Abnormali... ORPHA:3098
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Enlarged joints, Short finger, Kyphosis, Sclerosis of skull base, Severe short sta... OMIM:313420
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of the knee, Prominent calcaneus, Broad thumb, Short neck, Generalized joint laxity, ... ORPHA:251028
Osteogenesis Imperfecta, Type V
Wormian bones, Platyspondyly, Joint hypermobility, Biconcave vertebral bodies, Pes planus, Recurr... OMIM:610967
Bethlem Myopathy 2
Hip dislocation, Flexion contracture, Joint laxity, Kyphosis OMIM:616471
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteoporosis, Squared iliac bones, Short neck, Pes planus, Thoracic scoliosis, Shoulder dislocati... OMIM:618000
Acrocapitofemoral Dysplasia
Scoliosis, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finger, Cone-shaped... OMIM:607778
Dermatosparaxis Ehlers-Danlos Syndrome
Hip dysplasia, Scoliosis, Osteoporosis, Rickets, Joint hyperflexibility, Severe short stature, Ab... ORPHA:1901
Menkes Disease
Osteoporosis, Wormian bones, Joint laxity, Intrauterine growth retardation, Short stature, Metaph... OMIM:309400
Epiphyseal Chondrodysplasia, Miura Type
Scoliosis, Finger clinodactyly, Broad hallux, Long hallux, Osteopenia, Arachnodactyly, Epiphyseal... OMIM:615923
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Joint laxity, Abnormality of the elbow, Increased susceptibility to fractures, Abnorma... ORPHA:93359
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Pes planus, Wrist flexion contracture, Short neck, Micrognathia, Oste... OMIM:255800
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Platyspondyly, Kyphosis, Short stature ORPHA:2786
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Kyphosis, Abnormal co... ORPHA:2777
Oncogenic Osteomalacia
Abnormality of the tarsal bones, Abnormal vertebral morphology, Abnormal pelvis bone morphology, ... ORPHA:352540
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Slender finger, Short stature,... OMIM:609813
Nestor-Guillermo Progeria Syndrome
Osteolytic defects of the distal phalanges of the hand, Scoliosis, Delayed closure of the anterio... OMIM:614008
Shashi-Pena Syndrome
Scoliosis, Osteoporosis, Retrognathia, Kyphosis OMIM:617190
Cleidocranial Dysplasia
Scoliosis, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Mandibular prognathia... ORPHA:1452
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Generalized bone demineralization, Joint laxity, Metaphyseal irregularity, Bowing of t... ORPHA:93352
Diastrophic Dwarfism
Scoliosis, Elbow dislocation, Abnormality of the metacarpal bones, Increased bone mineral density... ORPHA:628
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Osteoporosis-Pseudoglioma Syndrome
Abnormal femoral neck/head morphology, Wormian bones, Osteoporosis, Joint laxity, Crumpled long b... ORPHA:2788
Cartilage-Hair Hypoplasia
Scoliosis, Abnormality of the metaphysis, Short neck, Disproportionate short-limb short stature, ... ORPHA:175
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Epiphyseal stippling, Abnormal bone ossification, Coronal cleft vertebrae, Bowing of the long bon... ORPHA:1952
Osteogenesis Imperfecta, Type Ix
Scoliosis, Wormian bones, Platyspondyly, Kyphosis, Decreased calvarial ossification, Recurrent fr... OMIM:259440
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Arthrogryposis multiplex congenita, Short neck, Camptodactyly, Kyphosis, Flex... OMIM:618393
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Kyphosis, Brachydactyly, Short stature OMIM:618392
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Wide anterior fontanel, Short middle phalanx of finger, Aplasia/... OMIM:113000
Lichtenstein Syndrome
Enamel hypoplasia, Osteoporosis, Carious teeth, Pes cavus, Metacarpophalangeal joint contracture,... OMIM:246550
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Platyspondyly, Hip osteoarthritis, Irregular epiphyses, Kyphosis, Hypoplastic iliac wi... OMIM:313400
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lumbar platyspondyly, Lytic defects of humeral diaphysis, ... OMIM:601376
Metaphyseal Acroscyphodysplasia
Scoliosis, Abnormality of femur morphology, Bowing of the long bones, Cone-shaped epiphysis, Seve... ORPHA:1240
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Hip dysplasia, Scoliosis, Mandibular prognathia, Kyphosis, Hypoplastic iliac wing, Short distal p... ORPHA:1858
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Short stature, Kyphoscoliosis, Abnormality of the meta... ORPHA:93304
Ritscher-Schinzel Syndrome 2
Short philtrum, Overlapping toe, Camptodactyly, Short distal phalanx of finger, Protruding tongue... OMIM:300963
Chst3-Related Skeletal Dysplasia
Scoliosis, Cubitus valgus, Genu valgum, Enlarged joints, Delayed eruption of teeth, Abnormal form... ORPHA:263463
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Overlapping fingers, Scoliosis, Arthrogryposis multiplex congenita, Congenital hip dislocation, K... OMIM:618291
Osteogenesis Imperfecta, Type Xviii
Wormian bones, Joint hypermobility, Joint laxity, Biconcave vertebral bodies, Bowing of the long ... OMIM:617952
Nail-Patella Syndrome
Enamel hypoplasia, Scoliosis, Abnormality of tibia morphology, Pes planus, Abnormality of the elb... ORPHA:2614
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis, Osteoporosis OMIM:618234
Mycetoma
Abnormality of the knee, Osteoporosis, Osteomyelitis, Abnormal form of the vertebral bodies, Bone... ORPHA:2583
Spondyloperipheral Dysplasia
Short metatarsal, Broad thumb, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Platyspondyly, Aplasia/Hypoplasia of the capital femoral epiphysis, Enlarged joints, Large tarsal... OMIM:215150
Spondylometaphyseal Dysplasia, Kozlowski Type
Scoliosis, Genu valgum, Platyspondyly, Enlarged joints, Abnormality of epiphysis morphology, Kyph... ORPHA:93314
Familial Anetoderma
Lumbar hyperlordosis, Abnormality of tibia morphology, Generalized joint laxity ORPHA:228277
Czech Dysplasia
Scoliosis, Platyspondyly, Short toe, Short metatarsal, Thoracic kyphosis, Flexion contracture, Na... OMIM:609162
Multiple Epiphyseal Dysplasia With Robin Phenotype
Scoliosis, Metatarsus adductus, Prominent proximal interphalangeal joints, Short femoral neck, Mi... OMIM:601560
Melnick-Needles Syndrome
Limited elbow extension, Genu valgum, Delayed eruption of teeth, Talipes equinovarus, Pes planus,... OMIM:309350
Widow'S Peak Syndrome
Mild short stature, Hip osteoarthritis, Kyphosis, Narrow iliac wing, Recurrent patellar dislocati... OMIM:314570
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Limited elbow extension, Genu valgum, Upper limb undergrowth, Short metatarsa... OMIM:271650
Mucolipidosis Type Iii
Hyperlordosis, Large iliac wing, Abnormal form of the vertebral bodies, Craniofacial hyperostosis... ORPHA:577
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Lumbar scoliosis, Irregular vertebral endplates, Bowing of the legs, Lower limb un... OMIM:612847
Multiple Metaphyseal Dysplasia
Hyperlordosis, Broad distal phalanx of finger, Abnormality of tibia morphology, Abnormality of ep... ORPHA:93430
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Platyspondyly, Enlarged joints, Carpal bone hypoplasia, Severe carpal ... OMIM:184252
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Proximal lower limb amyotrophy, Pes... OMIM:600175
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Dysplasia Epiphysealis Hemimelica
Genu valgum, Tarsal synostosis, Abnormality of epiphysis morphology, Pes planus, Irregular epiphy... ORPHA:1822
Down Syndrome
Macroglossia, Narrow palate, Narrow mouth, Open mouth, Downturned corners of mouth, Thick lower l... ORPHA:870
Mucopolysaccharidosis Type 4
Scoliosis, Genu valgum, Carious teeth, Abnormal dental enamel morphology, Hyperlordosis, Platyspo... ORPHA:582
Acrocapitofemoral Dysplasia
Scoliosis, Hyperlordosis, Flared iliac wing, Short palm, Ovoid vertebral bodies, Cone-shaped epip... ORPHA:63446
Vitamin D-Dependent Rickets, Type 3
Growth delay, Metaphyseal cupping, Bowing of the legs, Flared metaphysis, Genu varum, Osteopenia OMIM:619073
Warburg Micro Syndrome 1
Osteoporosis, Joint hypermobility, Overlapping toe, Short stature, Kyphoscoliosis, Micrognathia OMIM:600118
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis, Small hand, Short stature, Short foot, Talipes equinovarus, Hip dislocation OMIM:300434
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Genu valgum, Delayed pubic bone ossification, Metaphyseal irregularity, Enlarged epiphyses, Hypop... OMIM:613330
Forsythe-Wakeling Syndrome
Osteoporosis, Growth delay, Short stature OMIM:613606
Mesomelic Dysplasia, Nievergelt Type
Scoliosis, Genu valgum, Camptodactyly of finger, Abnormality of tibia morphology, Tarsal synostos... ORPHA:2633
Laron Syndrome
Limb undergrowth, Severe short stature, Abnormal joint morphology, Short long bone, Delayed menarche OMIM:262500
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Short long bone, Micrognat... ORPHA:1423
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Pes planus, Flattened femoral head, Thoracic platyspond... ORPHA:457395
Multiple Epiphyseal Dysplasia Type 4
Scoliosis, Short metatarsal, Acetabular dysplasia, Joint stiffness, Double-layered patella, Short... ORPHA:93307
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Genu valgum, Delayed pubic bone ossification, Club-shaped proximal femur, Hyperlordosi... OMIM:184250
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Ruvalcaba Syndrome
Scoliosis, Limited elbow extension, Short metatarsal, Short phalanx of finger, Kyphosis, Short fo... OMIM:180870
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelic short stature, Madelung de... OMIM:249700
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Fibular bowing, Aplasia/Hypoplasia o... ORPHA:85165
Osteochondritis Dissecans
Abnormality of the knee, Limited elbow extension, Abnormality of tibia morphology, Decreased hip ... ORPHA:2764
Thoracomelic Dysplasia
Hyperlordosis, Genu valgum, Disproportionate short-limb short stature, Elbow dislocation, Joint h... ORPHA:1803
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... ORPHA:2639
Craniometadiaphyseal Dysplasia
Scoliosis, Cubitus valgus, Wormian bones, Genu valgum, Carious teeth, Wide anterior fontanel, Bro... OMIM:269300
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Osteoporosis
Osteoporosis OMIM:166710
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Platyspondyly, Carious teeth, Abnormal vertebral morphology, Aplasia/hypoplasia involving bones o... ORPHA:93346
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Short neck, Atlantoaxial instability, Limited elbow extension, Genu valgum... ORPHA:239
X-Linked Intellectual Disability, Stocco Dos Santos Type
Talipes equinovarus, Kyphosis, Congenital bilateral hip dislocation, Short stature ORPHA:85288
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Acromicric Dysplasia
Short phalanx of finger, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot, Severe short ... OMIM:102370
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Wormian bones, Moderate generalized osteoporosis, Biconcave flattened vertebrae, Abnormal joint m... OMIM:166230
Maternal Uniparental Disomy Of Chromosome 9
Short neck, Abnormal vertebral morphology, Elbow ankylosis, Kyphoscoliosis, Intrauterine growth r... ORPHA:96183
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Broad long bone diaphyses, ... OMIM:300106
Juvenile Paget Disease
Osteoporosis, Bowing of the long bones, Recurrent fractures, Coarse metaphyseal trabecularization... ORPHA:2801
Osteogenesis Imperfecta, Type Xvii
Scoliosis, Platyspondyly, Osteoporosis, Thin metacarpal cortices, Short stature, Vertebral compre... OMIM:616507
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip subluxation, Large iliac wing, Joint laxity, Flared iliac wing, Pes planus, Ovoid vertebral b... OMIM:271640
Solitary Bone Cyst
Abnormal ilium morphology, Prominent calcaneus, Abnormality of tibia morphology, Abnormal form of... ORPHA:83468
Premature Ovarian Failure 2B
Osteoporosis, Delayed puberty OMIM:300604
Developmental And Epileptic Encephalopathy 80
Long philtrum, High palate, Wide mouth, Smooth philtrum, Short distal phalanx of finger, Tented u... OMIM:618580
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Macroglossia, Protruding tongue, Cleft palate, Bifid uvula, Brachydactyly OMIM:612938
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short phalanx of finger, Joint laxity, Pes planus, Short femoral neck, Flat capital femoral epiph... OMIM:612350
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Disproportionate short stature, Joint laxity, Metaphyseal ir... OMIM:602557
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Metacarpal osteolysis, Carpal osteolysis, Ankle swelling, Osteolysis invol... OMIM:166300
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Hypoplastic ilia, Decreased cranial base ossification, Metaphyseal cu... OMIM:151210
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis, Pes cavus OMIM:617087
Boomerang Dysplasia
Abnormality of tibia morphology, Abnormality of femur morphology, Severe short-limb dwarfism, Poo... ORPHA:1263
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Moderately short stature, Platyspondyly, Flexion contracture, Flattened epiphysis, Abnormality of... ORPHA:157965
Multiple Epiphyseal Dysplasia Type 5
Hip dysplasia, Genu valgum, Intervertebral disc degeneration, Abnormality of upper limb epiphysis... ORPHA:93311
Osteogenesis Imperfecta, Type Iv
Scoliosis, Wormian bones, Kyphosis, Recurrent fractures, Reduced bone mineral density, Increased ... OMIM:166220
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Postaxial hand polydactyly, Short femur, Short phalanx of finger, Dispr... OMIM:200700
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Syndactyly, Short stature, Duplication of... OMIM:600384
X-Linked Dominant Chondrodysplasia Punctata
Hip dysplasia, Abnormal vertebral morphology, Abnormality of epiphysis morphology, Rhizomelia, Ky... ORPHA:35173
Congenital Muscular Dystrophy, Ullrich Type
Scoliosis, Short neck, Micrognathia, Kyphosis, Flexion contracture, Hyperextensibility at wrists,... ORPHA:75840
Cantu Syndrome
Short hallux, Platyspondyly, Osteoporosis, Erlenmeyer flask deformity of the femurs, Hypoplastic ... OMIM:239850
Osteogenesis Imperfecta, Type Xiv
Scoliosis, Recurrent fractures, Increased susceptibility to fractures, Short stature, Osteopenia,... OMIM:615066
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Joint laxity, Short palm, Bowing of the legs, Antecubital pterygium, Short femoral neck, Equinova... ORPHA:2502
Camptodactyly Syndrome, Guadalajara, Type Ii
Camptodactyly of finger, Short 3rd toe, Talipes equinovarus, Short neck, Short middle phalanx of ... OMIM:211920
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Childhood-onset short-trunk short stature, Irregular vertebral endplates, Cervical... OMIM:184100
Congenital Disorder Of Glycosylation, Type Iia
Thin vermilion border, Open mouth, Everted lower lip vermilion, Diastema, Wide mouth, Abnormality... OMIM:212066
Cole-Carpenter Syndrome
Scoliosis, Wormian bones, Abnormal dental enamel morphology, Delayed eruption of teeth, Abnormal ... ORPHA:2050
Spondylometaphyseal Dysplasia, Algerian Type
Genu valgum, Platyspondyly, Hypoplastic pelvis, Carpal bone hypoplasia, Flared femoral metaphysis... OMIM:184253
Achondroplasia
Flat acetabular roof, Bowing of the legs, Narrow greater sciatic notch, Limited elbow extension, ... ORPHA:15
Gm1-Gangliosidosis, Type Iii
Scoliosis, Platyspondyly, Flared iliac wing, Kyphosis, Anterior beaking of lumbar vertebrae, Shor... OMIM:230650
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Wide anterior fontanel, Osteopenia, Obtuse angle of mandible, Abnormal foot morpho... ORPHA:85184
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender long bones with narrow diaphyses, Dense metaphyseal bands, Short stature, Intrauterine gr... ORPHA:50811
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Severe short-limb dwarfism, Elbow dislocation, Abnormall... OMIM:201250
Kleefstra Syndrome 1
Macroglossia, Everted lower lip vermilion, Natal tooth, Persistence of primary teeth, Protruding ... OMIM:610253
Mucolipidosis Iii Gamma
Scoliosis, Genu valgum, Hyperlordosis, Flared iliac wing, Kyphosis, Joint stiffness, Short statur... OMIM:252605
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Joint hypermobility, Pes planus, Micrognathia, Elbow flexion contracture, Hyperlordosi... ORPHA:536516
Autosomal Recessive Stickler Syndrome
Genu valgum, Platyspondyly, Abnormality of epiphysis morphology, Joint hyperflexibility, Irregula... ORPHA:250984
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Wormian bones, Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Mandibular p... ORPHA:96334
Hyaline Fibromatosis Syndrome
Osteoporosis, Progressive flexion contractures, Osteolysis, Osteopenia OMIM:228600
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hip dysplasia, Rocker bottom foot, Scoliosis, Areflexia of lower limbs, Short neck, Arthrogryposi... OMIM:611890
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Genu valgum, Finger syndactyly, Abnormality of epiphysis morphology, Malar flattening, Clinodacty... ORPHA:166024
Perrault Syndrome 1
Scoliosis, Osteoporosis, Pes cavus, Short stature, Talipes equinovarus OMIM:233400
Dysostosis, Stanescu Type
Scoliosis, Wormian bones, Carious teeth, Massively thickened long bone cortices, Abnormal dental ... ORPHA:1798
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Long philtrum, Macroglossia, Dental crowding, High palate, Radial deviation of finger, Protruding... OMIM:141750
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Delayed eruption of teeth, Micrognathia, Postnatal growth retardation, Severe intra... ORPHA:73272
Coxoauricular Syndrome
Reduced bone mineral density, Short stature, Abnormality of femur morphology, Hip dislocation, Ab... ORPHA:1508
Ck Syndrome
Scoliosis, Hyperlordosis, Joint hypermobility, Kyphosis, Abnormal cortical bone morphology, Abnor... OMIM:300831
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Wormian bones, Postaxial hand polydactyly, Sacrococcygeal terato... OMIM:269150
Ring Chromosome 22 Syndrome
Protruding tongue, 2-3 toe syndactyly, Large hands, Thick vermilion border ORPHA:1446
Bruck Syndrome 2
Wormian bones, Platyspondyly, Flexion contracture, Osteopenia, Pterygium, Increased susceptibilit... OMIM:609220
Borjeson-Forssman-Lehmann Syndrome
Shortening of all distal phalanges of the fingers, Scoliosis, Cervical spinal canal stenosis, Wid... OMIM:301900
Frank-Ter Haar Syndrome
Wormian bones, Short phalanx of finger, Camptodactyly, Metatarsus adductus, Cortical irregularity... OMIM:249420
Smith-Mccort Dysplasia 2
Genu valgum, Platyspondyly, Short metatarsal, Short phalanx of finger, Metaphyseal irregularity, ... OMIM:615222
Down Syndrome
Macroglossia, Aganglionic megacolon, Protruding tongue, Anal atresia, Short middle phalanx of the... OMIM:190685
X-Linked Hypophosphatemia
Craniosynostosis, Flared iliac wing, Generalized osteosclerosis, Bowing of the legs, Vertebral hy... ORPHA:89936
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Atelosteogenesis, Type Ii
Scoliosis, Hitchhiker thumb, Short greater sciatic notch, Sandal gap, Flat acetabular roof, Short... OMIM:256050
Duchenne And Becker Muscular Dystrophy
Scoliosis, Hyperlordosis, Slender long bone, Reduced bone mineral density, Joint stiffness ORPHA:262
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue, Drooling OMIM:614325
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Scoliosis, Joint laxity, Metaphyseal irregularity, Carpal bone hypoplasia, Broad foot, Disproport... OMIM:250420
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Widely spaced teeth, Protruding tongue, Wide mouth ORPHA:98795
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Recurrent fractures, Reduced bone mineral density, Delayed puberty, Short stature ORPHA:2410
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Joint hypermobility, Kyphosis, Flexion contracture, Spinal rigidity OMIM:618323
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth, Short toe, Osteoporosis, Short metatarsal, Short fi... OMIM:103580
Marshall-Smith Syndrome
Protruding tongue, Bowing of the long bones, Open mouth, Gingival overgrowth ORPHA:561
Autosomal Recessive Kenny-Caffey Syndrome
Carious teeth, Growth delay, Cortical thickening of long bone diaphyses, Postnatal growth retarda... ORPHA:93324
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Ankylosis, Kyphosis, Bowing of the long bones, Recurrent fractures, Increased bone ... OMIM:239000
Osteogenesis Imperfecta, Type Xi
Scoliosis, Protrusio acetabuli, Joint laxity, Biconcave vertebral bodies, Coxa vara, Increased su... OMIM:610968
Atkin-Flaitz Syndrome
Scoliosis, Genu valgum, Joint laxity, Genu recurvatum, Kyphosis, Maxillary lateral incisor microd... OMIM:300431
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Protruding tongue, Everted lower lip vermilion, Abnormal thumb morphology, Smooth philtrum ORPHA:324410
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Carpal bone hypoplasia, Postnatal growth retardation, Anterior scallopin... OMIM:611717
Heart Defects-Limb Shortening Syndrome
Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb ... ORPHA:1354
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Cubitus valgus, Genu valgum, Hypoplasia of the maxilla, Slender long bones with narrow diaphyses,... OMIM:608154
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis, Severe short stature OMIM:204730
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Feingold Syndrome 2
3-4 toe syndactyly, Short middle phalanx of the 2nd finger, 2-3 toe syndactyly, Postnatal growth ... OMIM:614326
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Scoliosis, Joint hypermobility, Multiple joint dislocation, Craniosynostosis, Pes planus, Sandal ... OMIM:245600
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Kyphosis, Pes cavus OMIM:611225
Desbuquois Dysplasia 2
Broad thumb, Short phalanx of finger, Cutaneous syndactyly, Joint laxity, Pes planus, Postnatal g... OMIM:615777
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth, Osteoporosis, Short metatarsal, Short stature, Shor... OMIM:612462
Angelman Syndrome Due To A Point Mutation
Widely spaced teeth, Protruding tongue, Drooling, Wide mouth ORPHA:411511
Angelman Syndrome
Macroglossia, Drooling, Wide mouth, Protruding tongue, Widely spaced teeth OMIM:105830
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Protruding tongue, Macroglossia, Malabsorption OMIM:242860
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Platyspondyly, Craniosynostosis, Overlapping toe, Osteopenia, Short metacarpal, Malar flattening,... OMIM:616723
Pycnodysostosis
Hyperlordosis, Wormian bones, Delayed eruption of teeth, Osteolysis, Abnormality of the vertebral... ORPHA:763
Dyggve-Melchior-Clausen Syndrome, X-Linked
Distal ulnar hypoplasia, Genu valgum, Scoliosis, Hypoplastic sacrum, Platyspondyly, Hypoplastic p... OMIM:304950
Stüve-Wiedemann Syndrome
Scoliosis, Abnormality of the metaphysis, Elbow flexion contracture, Thickened cortex of long bon... ORPHA:3206
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Joint hypermobility, Multiple joint dislocation, Craniosynostosis, Carious teeth, Phal... ORPHA:536467
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Diaphyseal cortical sclerosis, Increased susceptibility to fractures, O... OMIM:166260
Raine Syndrome
Enamel hypoplasia, Narrow mouth, Bowing of the long bones, Natal tooth, Wide mouth, Protruding to... OMIM:259775
Hypophosphatasia, Childhood
Carious teeth, Craniosynostosis, Bowing of the legs, Short stature OMIM:241510
19P13.3 Microduplication Syndrome
Hip dysplasia, Osteoporosis, Hip subluxation, Growth delay, Clinodactyly, Pes cavus, Kyphoscolios... ORPHA:447980
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Elbow dislocation, Bowing of the long bones, Narrow iliac wing, Mesomeli... ORPHA:85170
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Kyphosis, Lumbar hyperlordosis, Short stature, Talipes equinovarus, Hip dislocation OMIM:616756
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Micrognathia, Short foot, Short metacarpal, Short stature, Short toe, Brachydactyly,... OMIM:614078
Three M Syndrome 1
Hyperlordosis, Joint hypermobility, Increased vertebral height, Short neck, Hypoplastic pelvis, P... OMIM:273750
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Delayed pubic bone ossification, Atlantoaxial instability, Platyspondyly, Neonatal sho... OMIM:183900
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Disproportionate short stature, Synostosis of carpal bones, Elbo... ORPHA:2634
Masa Syndrome
Hyperlordosis, Kyphosis, Pes cavus, Short stature, Talipes equinovarus, Adducted thumb OMIM:303350
Rhizomelic Chondrodysplasia Punctata, Type 2
Scoliosis, Disproportionate short stature, Stippled calcification proximal humeral epiphyses, Rhi... OMIM:222765
Clark-Baraitser syndrome
Scoliosis, Genu valgum, Joint laxity, Genu recurvatum, Kyphosis, Maxillary lateral incisor microd... OMIM:300602
Achondrogenesis Type 2
Delayed pubic bone ossification, Abnormal bone ossification, Delayed proximal femoral epiphyseal ... ORPHA:93296
Dyssegmental Dysplasia, Silverman-Handmaker Type
Anisospondyly, Bowing of the long bones, Short long bone, Talipes equinovarus, Micrognathia, Mala... OMIM:224410
Burning Mouth Syndrome
Tongue pain, Parageusia, Xerostomia, Abnormality of the gingiva, Abnormality of taste sensation, ... ORPHA:353253
Trichorhinophalangeal Syndrome, Type Iii
Coxa magna, Scoliosis, Short metatarsal, Short phalanx of finger, Short finger, Short metacarpal,... OMIM:190351
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Mesomelic short stature, Pseudoarthrosis, Short tibia, Neonatal short-l... OMIM:156230
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Osteoporosis, Camptodactyly, Syndactyly, Growth delay OMIM:616006
3M Syndrome
Scoliosis, Abnormal dental enamel morphology, Congenital hip dislocation, Abnormality of the elbo... ORPHA:2616
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Spinal rigidity, Short neck OMIM:300718
Anauxetic Dysplasia 3
Genu valgum, Squared iliac bones, Hip subluxation, Platyspondyly, Wide anterior fontanel, Joint h... OMIM:618853
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Protruding tongue, Wide mouth, Gingival overgrowth OMIM:618797
Sialidosis Type 2
Osteoporosis, Kyphosis, Pedal edema, Flexion contracture, Short stature ORPHA:87876
Rhizomelic Dysplasia, Patterson-Lowry Type
Hyperlordosis, Genu valgum, Deformed humeral heads, Abnormal form of the vertebral bodies, Rhizom... ORPHA:2831
Icf Syndrome
Protruding tongue, Macroglossia, Malabsorption ORPHA:2268
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Macroglossia, Widely-spaced maxillary central incisors, Radial deviation of finger, Protruding to... OMIM:301040
Spondylo-Ocular Syndrome
Osteoporosis, Platyspondyly, Thoracic kyphosis, Pes planus, Joint hyperflexibility, Disproportion... ORPHA:85194
Mesomelia-Synostoses Syndrome
Abnormality of tibia morphology, Abnormality of the metacarpal bones, Joint stiffness, Micrognath... ORPHA:2496
Arthrogryposis, Distal, Type 4
Scoliosis, Camptodactyly, Deviation of the 2nd toe, Fibular deviation of toes, Tibial deviation o... OMIM:609128
Patterson Pseudoleprechaunism Syndrome
Irregular acetabular roof, Genu valgum, Small cervical vertebral bodies, Joint swelling, Cervical... OMIM:169170
Kniest Dysplasia
Joint stiffness, Delayed epiphyseal ossification, Abnormal cartilage collagen, Short neck, Verteb... ORPHA:485
Hajdu-Cheney Syndrome
Foot acroosteolysis, Wormian bones, Dislocated radial head, Genu valgum, Short neck, Absent front... OMIM:102500
Richieri Costa-Da Silva Syndrome
Genu valgum, Generalized bone demineralization, Beaking of vertebral bodies, Decreased anteriopos... ORPHA:3101
Rhyns Syndrome
Abnormality of long bone morphology, Hypoplastic ilia, Small epiphyses, Osteopenia, Abnormal acet... ORPHA:140976
Catel-Manzke Syndrome
Camptodactyly of finger, Cleft palate, Glossoptosis, Oral synechia, Metatarsus valgus, Clinodacty... ORPHA:1388
Gorham-Stout Disease
Mandibular pain, Osteolysis, Abnormality of finger, Abnormal bone ossification, Patchy reduction ... ORPHA:73
Multiple Osteochondromas
Radial bowing, Genu valgum, Scoliosis, Abnormality of tibia morphology, Osteolysis, Synostosis of... ORPHA:321
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Osteoporosis, Mandibular prognathia, Recurrent fractures, Hyperextensibility of the finger joints... OMIM:309583
Albers-Schönberg Osteopetrosis
Genu valgum, Carious teeth, Abnormality of epiphysis morphology, Mandibular osteomyelitis, Genera... ORPHA:53
Alpha-Mannosidosis
Hip dysplasia, Scoliosis, Synostosis of joints, Craniofacial hyperostosis, Hypoplastic inferior i... ORPHA:61
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Massively thickened long bone cortices, Limb undergrowth, Short stature, Kyphoscoliosis, Brachyda... OMIM:122900
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Squared iliac bones, Lumbar platyspondyly, Beaking of vertebral bodies, Limb undergrowth, Coarse ... OMIM:618961
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteoporosis, Sclerotic cranial sutures, Broad metacarpals, Osteolysis, Abnormal form of the vert... ORPHA:371428
Dysosteosclerosis
Delayed closure of the anterior fontanelle, Natal tooth, Increased susceptibility to fractures, M... OMIM:224300
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs, Short stature OMIM:146350
Fatco Syndrome
Absent hand, Abnormality of tibia morphology, Tarsal synostosis, Finger syndactyly, Split hand, S... ORPHA:2492
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... ORPHA:1972
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Idiopathic Juvenile Osteoporosis
Osteoporosis, Kyphosis, Recurrent fractures, Vertebral compression fracture ORPHA:85193
Cranio-Osteoarthropathy
Abnormality of the knee, Abnormality of tibia morphology, Joint swelling, Abnormal cortical bone ... ORPHA:1525
Osteogenesis Imperfecta, Type Xix
Scoliosis, Biconcave vertebral bodies, Rhizomelia, Recurrent fractures, Severe short stature, Ost... OMIM:301014
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Cole-Carpenter Syndrome 2
Wormian bones, Platyspondyly, Lambdoidal craniosynostosis, Microretrognathia, Kyphosis, Narrow il... OMIM:616294
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis, Large hands, Short stature, Tapered finger ORPHA:276630
Frank-Ter Haar Syndrome
Scoliosis, Camptodactyly of finger, Delayed eruption of teeth, Osteolysis, Genu recurvatum, Beaki... ORPHA:137834
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Mandibular prognathia, Kyphosis, Long foot, Arachnodactyly, Hypoplasia of the maxilla OMIM:300676
Microcephaly 26, Primary, Autosomal Dominant
Protruding tongue, Long philtrum, Gingival overgrowth OMIM:619179
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Widely spaced teeth, Protruding tongue, Drooling, Wide mouth ORPHA:98794
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Scoliosis, Genu valgum, Metaphyseal sclerosis, Osteoporosis, Bowing of the long bones, Postnatal ... OMIM:612199
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Auriculocondylar Syndrome 2
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, Glossoptosis, Mandibular... OMIM:614669
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Mandibular prognathia, Arachnodactyly, Joint laxity, Kyphosis OMIM:248760
Myofibrillar Myopathy 10
Flexion contracture of finger, Mandibular prognathia, Kyphosis, Sandal gap, Knee flexion contract... OMIM:619040
Hypophosphatemic Rickets, Autosomal Recessive, 2
Genu valgum, Carious teeth, Hypoplasia of teeth, Hypophosphatemic rickets, Short stature, Genu va... OMIM:613312
Hypocalcemic Vitamin D-Resistant Rickets
Scoliosis, Genu valgum, Osteolysis, Abnormal form of the vertebral bodies, Bone cyst, Recurrent f... ORPHA:93160
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Scoliosis, Delayed closure of the anterior fontanelle, ... OMIM:311300
Infantile Systemic Hyalinosis
Osteoporosis, Camptodactyly of finger, Growth delay, Recurrent fractures, Severe short stature, O... ORPHA:2176
Acrocephalopolydactyly
Genu recurvatum, Limb undergrowth, Short long bone, Short neck, Brachydactyly ORPHA:221054
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Carious teeth, Abnormality of epiphysis morphology, Mandibular prognathia, Recurrent... ORPHA:2785
Uruguay Faciocardiomusculoskeletal Syndrome
Scoliosis, Congenital hip dislocation, Dislocation of toes, Camptodactyly of toe, Progressive pes... OMIM:300280
Familial Hyperprolactinemia
Osteoporosis, Osteopenia ORPHA:397685
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis, 2-3 toe syndactyly, Brachydactyly, Clinodactyly, Micrognathia, Tapered finger OMIM:617061
Zimmermann-Laband Syndrome 3
Absent distal phalanx of the 2nd toe, Kyphosis, Flexion contracture, Aplasia of the distal phalan... OMIM:618658
Joubert Syndrome 1
Macroglossia, Postaxial hand polydactyly, Protruding tongue, Clinodactyly, Postaxial foot polydac... OMIM:213300
Nievergelt Syndrome
Genu valgum, Tarsal synostosis, Radioulnar synostosis, Mesomelic short stature, Radial head sublu... OMIM:163400
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Short neck, Kyphosis, Abnormal hip bone morphology, Short stature, Malar prominenc... ORPHA:2522
Saul-Wilson Syndrome
Platyspondyly, Talipes equinovarus, Short metatarsal, Wide anterior fontanel, Postnatal growth re... OMIM:618150
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Equinovarus deformity, Short neck, Micrognathia, Camptodactyly, Broad long bones, Bowing of the l... OMIM:224400
Epiphyseal Dysplasia, Baumann Type
Genu valgum, Hypoplasia of the femoral head, Joint laxity, Metaphyseal irregularity, Pes planus, ... OMIM:610797
Brachyolmia Type 3
Scoliosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Childhood-onset short-trunk ... OMIM:113500
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Scoliosis, Camptodactyly of finger, Carious teeth, Kyphosis, Joint contracture of the 5th finger,... ORPHA:1883
Cerebrooculofacioskeletal Syndrome 4
Dislocated radial head, Camptodactyly of finger, Rocker bottom foot, Arthrogryposis multiplex con... OMIM:610758
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Congenital foot contractures, Kyphosis, Clinodactyly of the 5th finger, Limitation of ... ORPHA:3454
Occipital Horn Syndrome
Scoliosis, Large iliac wing, Pes planus, Abnormality of fibula morphology, Aplastic clavicle, Hip... ORPHA:198
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Talipes, Micrognathia, Hypoplastic pubic bone, Severe short stature, Severe generalized osteoporo... OMIM:210730
Acromesomelic Dysplasia, Maroteaux Type
Short metatarsal, Short phalanx of finger, Joint laxity, Ovoid vertebral bodies, Cone-shaped epip... OMIM:602875
Epilepsy, Progressive Myoclonic, 9
Microglossia, Short thumb OMIM:616540
Congenital Disorder Of Glycosylation, Type Iie
Overlapping fingers, Narrow mouth, Smooth philtrum, Thick vermilion border, Protruding tongue, Ad... OMIM:608779
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Postaxial hand polydactyly, Toe syndactyly, Short neck, Abnormalit... ORPHA:3082
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormal dental enamel morphology, Postaxial hand polydactyly, Elbow dislocation, Abno... ORPHA:2916
Atelosteogenesis Type I
Scoliosis, Platyspondyly, Short femur, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Juvenile Sialidosis Type 2
Protruding tongue, Gingival overgrowth ORPHA:93399
Congenital Sialidosis Type 2
Polydactyly, Protruding tongue, Gingival overgrowth ORPHA:93400
Schwartz-Jampel Syndrome
Scoliosis, Wormian bones, Arthrogryposis multiplex congenita, Elbow dislocation, Pes planus, Incr... ORPHA:800
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Abnormal dental enamel morphology, Synostosis of carpal bones, Finger syndactyly, Shor... ORPHA:1005
Orofaciodigital Syndrome V
Postaxial hand polydactyly, Aganglionic megacolon, Postaxial foot polydactyly, Lobulated tongue, ... OMIM:174300
Rothmund-Thomson Syndrome, Type 1
Osteoporosis, Short stature OMIM:618625