Gene Summary

Name:
collagen, type I, alpha 2
Synonyms:
Col1a-2,  Cola2,  Cola-2

IMPC Data Collections

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
decreased total body fat amount Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 8.95×10-05
increased neutrophil cell number Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 1.36×10-06
increased bone mineral density Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 2.49×10-06
increased heart weight Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 2.38×10-07
dilated heart left ventricle Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 9.24×10-08
decreased lymphocyte cell number Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 4.04×10-05
abnormal radius morphology Col1a2tm1b(EUCOMM)Wtsi HOM   Early adult 9.95×10-05
decreased circulating amylase level Col1a2tm1b(EUCOMM)Wtsi HOM   Early adult 6.97×10-05
enlarged heart Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal femur morphology Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 6.09×10-07
increased leukocyte cell number Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 4.34×10-05
increased bone mineral content Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 3.04×10-07
decreased blood urea nitrogen level Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 1.55×10-05
enlarged spleen Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal optic disk morphology Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 9.22×10-05
abnormal tibia morphology Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 3.52×10-05
abnormal ulna morphology Col1a2tm1b(EUCOMM)Wtsi HOM   Early adult 9.95×10-05
decreased grip strength Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 1.35×10-10
decreased mean platelet volume Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 8.77×10-05
increased circulating alkaline phosphatase level Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 8.96×10-17
increased large unstained cell number Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 1.03×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Aorta  Wholemount images heterozygote 100% (4 of 4)
Bone  Wholemount images heterozygote 100% (4 of 4)
Brain  Wholemount images heterozygote 100% (4 of 4)
Brainstem  Wholemount images heterozygote 100% (4 of 4)
Cartilage tissue  Wholemount images heterozygote 100% (4 of 4)
Cerebellum  Wholemount images heterozygote 100% (4 of 4)
Esophagus  Wholemount images heterozygote 75% (3 of 4)
Gall bladder  Wholemount images heterozygote 100% (4 of 4)
Hippocampus  Wholemount images heterozygote 50% (2 of 4)
Hypothalamus  Wholemount images heterozygote 100% (4 of 4)
Kidney  Wholemount images heterozygote 50% (2 of 4)
Large intestine  Wholemount images heterozygote 25% (1 of 4)
Lower urinary tract  Wholemount images heterozygote 100% (4 of 4)
Lung  Wholemount images heterozygote 50% (2 of 4)
Olfactory lobe  Wholemount images heterozygote 50% (2 of 4)
Oral epithelium  Wholemount images heterozygote 50% (2 of 4)
Ovary  Wholemount images heterozygote 50% (2 of 4)
Oviduct  Wholemount images heterozygote 50% (2 of 4)
Peripheral nervous system  Wholemount images heterozygote 0.0% (0 of 4)
Pituitary gland  Wholemount images heterozygote 25% (1 of 4)
Prostate gland  Wholemount images heterozygote 25% (1 of 4)
Skin  Wholemount images heterozygote 75% (3 of 4)
Small intestine  Wholemount images heterozygote 50% (2 of 4)
Spinal cord  Wholemount images heterozygote 50% (2 of 4)
Stomach  Wholemount images heterozygote 50% (2 of 4)
Testis  Wholemount images heterozygote 50% (2 of 4)
Thyroid gland  Wholemount images heterozygote 25% (1 of 4)
Trachea  Wholemount images heterozygote 50% (2 of 4)
Uterus  Wholemount images heterozygote 50% (2 of 4)
Vas deferens  Wholemount images heterozygote Not available
Vascular system  Wholemount images heterozygote 50% (2 of 4)
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote 0.0% (0 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote 25% (1 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Striatum N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 4)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote Ambiguous
Brain N/A homozygote Ambiguous
Ear N/A heterozygote Ambiguous
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote Ambiguous
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote Ambiguous
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote Ambiguous
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote Ambiguous
Forelimb N/A homozygote Ambiguous
Handplate N/A heterozygote Ambiguous
Handplate N/A homozygote Ambiguous
Head N/A heterozygote Ambiguous
Head N/A homozygote Ambiguous
Heart N/A heterozygote Ambiguous
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote Ambiguous
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote Ambiguous
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Midbrain N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote Ambiguous
Skin N/A homozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote Ambiguous
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
uterus 0.33% (2 of 598)
vas deferens 4.56% (18 of 395)
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.31% (6 of 457)
ear 0.22% (1 of 445)
embryo 0.44% (2 of 457)
eye 0.22% (1 of 461)
footplate 0.22% (1 of 462)
forebrain 0.22% (1 of 452)
forelimb 0.22% (1 of 459)
handplate 0.21% (1 of 468)
head 1.09% (5 of 460)
heart 0.22% (1 of 462)
hindbrain 0.87% (4 of 459)
hindlimb 0.22% (1 of 452)
liver 0.22% (1 of 449)
lung 0.22% (1 of 451)
mandibular process 0.22% (1 of 459)
maxillary process 0.22% (1 of 452)
midbrain 0.22% (1 of 464)
oral cavity 0.22% (1 of 465)
skin 0.22% (1 of 454)
tail 0.22% (1 of 460)
tail somite group 0.22% (1 of 455)

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 Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Adult LacZ

LacZ Images Wholemount

33 Images

X-ray

XRay Images Forepaw

11 Images

Eye Morphology

VIP of right eye

14 Images

Eye Morphology

VIP of left eye

14 Images

Eye Morphology

VIP of left fundus

14 Images

Eye Morphology

VIP of right fundus

13 Images

Histopathology

Images

6 Images

Embryo LacZ

LacZ images wholemount

8 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Col1a2 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 Col1a2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Osteomesopyknosis
Increased bone mineral density OMIM:166450
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Scoliosis, Genu varum, Short lower limbs, Hy... ORPHA:2501
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Gnathodiaphyseal Dysplasia
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Scoliosis, Bowing of the long bones, T... ORPHA:53697
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Osteochondrosis Of The Metatarsal Bone
Avascular necrosis, Abnormality of the third metatarsal bone, Joint stiffness, Progressive joint ... ORPHA:564003
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... OMIM:617974
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Craniofacial hyperostosis, Abnormal form of the vertebral bodies... ORPHA:1802
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... OMIM:271530
Parastremmatic Dwarfism
Kyphosis, Flexion contracture, Short neck, Scoliosis, Genu valgum, Bowing of the long bones OMIM:168400
Melorheostosis
Joint stiffness, Failure to thrive, Increased bone mineral density, Arthritis, Hyperostosis, Ecto... ORPHA:2485
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal form of the vertebral bodies, Generaliz... ORPHA:2790
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphosis, Abnormal bone ossification... ORPHA:2114
Dysplasia Of Head Of Femur, Meyer Type
Multicentric femoral head ossification, Flattened femoral head, Enlarged tonsils, Leukocytosis, C... ORPHA:168621
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Abnormal hip bone morphology, Foot acroosteolysis, Abnormality of t... ORPHA:970
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density OMIM:618406
Bruck Syndrome 1
Hip contracture, Coxa vara, Kyphosis, Talipes equinovarus, Platyspondyly, Scoliosis, Osteoporosis... OMIM:259450
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Abnormal bone ossification, Genu varum, Bowing of the long bones, Coronal cleft vertebrae, Coarse... ORPHA:1952
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Joint subluxation, Osteopenia, Scoliosis, Congenital bilateral hip dislocation, Joint l... OMIM:130060
Sclerosteosis
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis ORPHA:3152
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis OMIM:607634
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Metatropic Dysplasia
Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of the 5th... ORPHA:2635
Acromesomelic Dysplasia, Maroteaux Type
Joint stiffness, Kyphosis, Beaking of vertebral bodies, Brachydactyly, Scoliosis, Abnormal form o... ORPHA:40
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Kyphosis, Abnormal morphology of ulna, Abnormal h... ORPHA:3344
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... ORPHA:174
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Recurrent fractures, Hip dislocation, Hip subluxation, Osteoporosis OMIM:256720
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Reduced bone mineral density, Wormian bones, Slender long bone, Thin bony co... OMIM:619795
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... ORPHA:2779
Solitary Bone Cyst
Lytic defects of the radius, Abnormal humeral diaphysis morphology, Back pain, Abnormality of the... ORPHA:83468
Winchester Syndrome
Broad metacarpals, Kyphosis, Generalized osteoporosis, Carpal osteolysis, Arthropathy, Osteolysis... OMIM:277950
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Metaphyseal Dysplasia, Spahr Type
Metaphyseal dysplasia, Metaphyseal sclerosis, Metaphyseal widening, Short lower limbs, Genu valgu... OMIM:250400
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Dislocated radial head, Beaking of vertebral bodies, Kyphoscoliosis, Talipes equinovarus, Hypopla... ORPHA:93359
Monosomy 5P
Recurrent fractures, Small hand, Short neck, Scoliosis, Abnormality of bone mineral density, Join... ORPHA:281
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Epiphyseal Dysplasia, Multiple, 1
Irregular vertebral endplates, Epiphyseal dysplasia, Delayed epiphyseal ossification, Joint stiff... OMIM:132400
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Mazabraud Syndrome
Recurrent fractures, Bone pain, Fibrous dysplasia of the bones ORPHA:57782
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Osteogenesis Imperfecta, Type Xiv
Recurrent fractures, Femoral bowing, Osteopenia, Scoliosis, Increased susceptibility to fractures OMIM:615066
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... OMIM:600081
Osteogenesis Imperfecta, Type V
Recurrent fractures, Limited pronation/supination of forearm, Anterior radial head dislocation, H... OMIM:610967
Osteogenesis Imperfecta, Type Xix
Recurrent fractures, Osteopenia, Scoliosis, Biconcave vertebral bodies, Rhizomelia, Vertebral wed... OMIM:301014
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Coxa vara, Joint stiffness, Limitation of joint mobility, Finger... ORPHA:93308
Metaphyseal Anadysplasia
Joint stiffness, Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypop... ORPHA:1040
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Difficulty walking, Premature osteoarthrit... ORPHA:93314
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... OMIM:156530
Flynn-Aird Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... OMIM:136300
Isolated Osteopoikilosis
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... ORPHA:166119
Hypochondroplasia
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Osteoarthritis, Micromelia, Br... ORPHA:429
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay
Broad-based gait, Recurrent fractures, Osteopenia, Inability to walk OMIM:619884
Hypocalcemic Vitamin D-Resistant Rickets
Bone pain, Recurrent fractures, Bone cyst, Joint dislocation, Abnormal hip bone morphology, Osteo... ORPHA:93160
Progressive Pseudorheumatoid Dysplasia
Enlarged metacarpophalangeal joints, Platyspondyly, Difficulty walking, Sclerotic vertebral endpl... OMIM:208230
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Recurrent fractures, Cortical sclerosis, Osteomyelitis, ... ORPHA:210110
Bruck Syndrome
Recurrent fractures, Joint stiffness, Kyphosis, Talipes equinovarus, Platyspondyly, Scoliosis, Os... ORPHA:2771
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Kyphosis, Decreased calvarial ossification, Platyspondyly, Scoliosis, Wormia... OMIM:259440
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Gnathodiaphyseal Dysplasia
Osteomyelitis, Diaphyseal cortical sclerosis, Osteopenia, Increased susceptibility to fractures, ... OMIM:166260
Mueller-Weiss Syndrome
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... ORPHA:566943
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized ost... ORPHA:1159
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Joint contracture of the hand, Osteopenia, Osteoporosis, Camptodactyly, Obesity OMIM:264010
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... OMIM:166600
Spondylometaphyseal Dysplasia, Corner Fracture Type
Coxa vara, Metaphyseal irregularity, Scoliosis, Short femoral neck, Genu varum, Hyperconvex verte... OMIM:184255
Scheuermann Disease
Morbus Scheuermann, Osteochondrosis, Kyphosis OMIM:181440
Bruck Syndrome 2
Talipes equinovarus, Flexion contracture, Femoral bowing, Osteopenia, Platyspondyly, Wormian bone... OMIM:609220
Spondylometaphyseal Dysplasia, Pagnamenta Type
Femoral bowing, Platyspondyly, Wormian bones, Thin bony cortex, Thoracic kyphosis, Rhizomelia, Br... OMIM:619638
Familial Expansile Osteolysis
Thin bony cortex, Pathologic fracture, Osteolysis, Bowing of the long bones, Bone pain OMIM:174810
Osteogenesis Imperfecta, Type Xxi
Coxa vara, Bowing of the legs, Recurrent fractures, Bowing of the arm, Platyspondyly, Osteoporosi... OMIM:619131
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Platyspo... OMIM:617719
Osteogenesis Imperfecta, Type Xi
Coxa vara, Kyphoscoliosis, Osteopenia, Scoliosis, Biconcave vertebral bodies, Protrusio acetabuli... OMIM:610968
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Tibial bowing, Kyphosis, Decreased calvarial ossification, Biconcave vertebr... OMIM:259420
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Osteoporosis-Pseudoglioma Syndrome
Abnormal femoral neck/head morphology, Loss of ambulation, Osteopenia, Metaphyseal widening, Oste... ORPHA:2788
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal hip bone morphology, Short neck, Abnormal form of the vertebral bod... ORPHA:1486
Osteopetrosis, Autosomal Recessive 1
Coxa vara, Hypocalcemia, Hepatomegaly, Increased bone mineral density, Osteomyelitis, Splenomegal... OMIM:259700
Tibial Torsion, Bilateral Medial
Bowing of the legs, Scoliosis, Tibial torsion OMIM:188800
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Wormian bones, Upper limb undergrowth, Pathologic fracture, Short foot, Abnorma... ORPHA:166277
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Recurrent fractures, Increased spinal bone density, Gait disturbance, Spastic gait, Bone pain ORPHA:329475
Diastrophic Dysplasia
Joint stiffness, Kyphosis, Hypoplastic cervical vertebrae, Joint dislocation, Increased bone mine... ORPHA:628
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... OMIM:241530
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Short distal phalanx of finger, Mandibular osteomyelitis, Hypocalc... ORPHA:53
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies, Upper limb ... ORPHA:93315
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Amegakaryocytic thrombocytopenia, Radioulnar synostosis, Hip dysp... ORPHA:71289
Fibular Hemimelia
Craniosynostosis, Arthralgia of the hip, Thrombocytopenia, Abnormality of fibula morphology, Genu... ORPHA:93323
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Joint dislocation, ... ORPHA:1240
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Kyphosis, Reduced bone mineral density, Femoral bowing present at birth, str... OMIM:166220
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Brachydactyly, Kyphosis, Delayed ossification of carpal bones, Waddling gait OMIM:618392
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis, Abnormal digit morphology, Joint hypermobility, Abnormal cort... OMIM:300831
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteosclerosis OMIM:122860
Mycetoma
Osteomyelitis, Bone cyst, Back pain, Osteoporosis, Abnormal form of the vertebral bodies, Patholo... ORPHA:2583
Dysplasia Epiphysealis Hemimelica
Flattened femoral head, Abnormality of femur morphology, Joint stiffness, Abnormal femoral neck m... ORPHA:1822
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Kyphosis, Osteoporosis, Gait disturbance, Vertebral compression fracture, Bo... ORPHA:85193
Blount Disease, Adolescent
Bowing of the legs, Osteochondritis dissecans, Genu varum OMIM:259200
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Diastrophic Dysplasia
Cervical kyphosis, Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Talipes equinovarus, Hy... OMIM:222600
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Lymphadenopathy OMIM:617718
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... OMIM:264700
Cranio-Osteoarthropathy
Joint stiffness, Joint swelling, Osteoarthritis, Deviation of finger, Abnormality of tibia morpho... ORPHA:1525
Urban-Rogers-Meyer Syndrome
Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Camptodactyly of finger, Short nec... ORPHA:3409
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Irregular vertebral endplates, Kyphoscoliosis, Squared-off... OMIM:271630
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora... OMIM:609223
Epiphyseal Dysplasia, Multiple, 2
Broad-based gait, Epiphyseal dysplasia, Foot pain, Irregular epiphyses, Flattened epiphysis, Genu... OMIM:600204
Osteogenesis Imperfecta, Type Xviii
Recurrent fractures, Femoral bowing, Biconcave vertebral bodies, Wormian bones, Thin bony cortex,... OMIM:617952
Osteogenesis Imperfecta, Type Vi
Beaking of vertebral bodies, Coxa vara, Biconcave vertebral bodies, Protrusio acetabuli, Joint la... OMIM:613982
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Kyphosis, Clinodactyly of the 5th finger, Arrhythmia, Camptodactyly, Short thumb OMIM:618453
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Enlarged joints, Recurrent fractures, Epiphyseal dysplasia, Osteoporosis, Joint laxity OMIM:248010
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... ORPHA:90650
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Upper limb undergrowth, Short 3rd metacarpal, Ventricular ... OMIM:169400
Hypophosphatemic Rickets, X-Linked Recessive
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... OMIM:300554
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Abnorma... ORPHA:1263
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... OMIM:250460
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Calvarial Doughnut Lesions With Bone Fragility
Recurrent fractures, Femoral bowing, Osteopenia, Platyspondyly, Scoliosis, Osteoporosis OMIM:126550
Brachydactylous Dwarfism, Mseleni Type
Short toe, Joint subluxation, Osteoarthritis of the elbow, Osteopenia, Platyspondyly, Abnormality... ORPHA:2619
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Delayed epiphyseal ossification, Proximal humeral metaphyseal irregularity, Coxa vara, Decreased ... OMIM:183849
Spondylometaphyseal Dysplasia, X-Linked
Enlarged joints, Hip contracture, Sclerosis of skull base, Kyphosis, Hyperextensibility of the fi... OMIM:313420
Hypophosphatasia, Adult
Recurrent fractures, Chondrocalcinosis, Osteomalacia, Pathologic fracture, Arthropathy, Increased... OMIM:146300
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Platyspondyly, Short neck, Biconcave vertebral bodies, Arthralgia ... ORPHA:93284
Multiple Epiphyseal Dysplasia, Beighton Type
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Knee pain, Intervertebral space n... ORPHA:166011
Gorham-Stout Disease
Abnormality of femur morphology, Abnormality of finger, Osteomyelitis, Abnormal bone ossification... ORPHA:73
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platy... OMIM:184252
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Vertebral segmentation defect, Abnormal hip bone morphology, Camptodactyly of finger, Mesomelia, ... ORPHA:2631
Caffey Disease
Cortical thickening of long bone diaphyses, Periosteal thickening of long tubular bones, Calvaria... ORPHA:1310
Grant Syndrome
Joint dislocation, Abnormality of the glenoid fossa, Wormian bones, Decreased skull ossification,... ORPHA:2097
Smith-Mccort Dysplasia 1
Metaphyseal irregularity, Multicentric femoral head ossification, Kyphosis, Beaking of vertebral ... OMIM:607326
Geroderma Osteodysplasticum
Irregular vertebral endplates, Recurrent fractures, Tibial bowing, Beaking of vertebral bodies, K... OMIM:231070
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Sclerosis of skull base, Short femur, Femoral bowing, Fr... OMIM:602080
Achondroplasia
Limited hip extension, Bowing of the legs, Lumbar hyperlordosis, Lumbar kyphosis in infancy, Gene... OMIM:100800
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Coxa vara, Metaphyseal dysplasia, Metaphyseal irregularity, Flexion contracture, Abnormally ossif... OMIM:613330
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Tibial bowing, Pulmonary insufficiency, Platyspondyly, Wormian bones, Limb u... OMIM:166210
Osteoporosis
Osteoporosis OMIM:166710
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Joint dislocation, Reduced bone mineral density, Short neck, Pla... ORPHA:582
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... OMIM:603546
Dysspondyloenchondromatosis
Enlarged joints, Vertebral segmentation defect, Kyphoscoliosis, Joint dislocation, Generalized jo... ORPHA:85198
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Fragmented epiphyses, Slender finger, Platyspondyly, Genu valgum, Abnormality of the curvature of... ORPHA:93360
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Calvarial hyperostosis, Abnormality of the vertebral column, Pathologic fracture, Abnormal long b... ORPHA:52430
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Limitation of joint mobility, Abnormal joint morphology, Osteoarthritis, Platyspondyly... ORPHA:93351
Osteogenesis Imperfecta, Type Viii
Recurrent fractures, Tibial bowing, Radial bowing, Type 1 collagen overmodification, Kyphosis, Fe... OMIM:610915
Symbrachydactyly Of Hands And Feet
Abnormality of the humeroulnar joint, Abnormal morphology of ulna, Abnormality of the humerus, Ap... ORPHA:1570
Caffey Disease
Joint hypermobility, Periosteal thickening of long tubular bones, Calvarial hyperostosis, Cortica... OMIM:114000
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Vitamin D-Dependent Rickets, Type 2A
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... OMIM:277440
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Multiple Epiphyseal Dysplasia Type 5
Delayed proximal femoral epiphyseal ossification, Arthralgia of the hip, Genu valgum, Knee pain, ... ORPHA:93311
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone resorption, Sparse bone trabec... ORPHA:289157
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Leukopenia, Bone m... OMIM:231095
Dysosteosclerosis
Irregular vertebral endplates, Sclerosis of skull base, Abnormal metaphyseal trabeculation, Short... OMIM:224300
Pyle Disease
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios... OMIM:265900
Geroderma Osteodysplastica
Recurrent fractures, Beaking of vertebral bodies, Abnormal bone ossification, Platyspondyly, Bico... ORPHA:2078
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Short neck,... OMIM:251450
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Epiphyseal streaking, Clinodactyly of the 4th toe, Wormian bones, Limited elbow extension, Hypero... OMIM:604922
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Irregular vertebral endplates, Hip contracture, Advanced ossification of carpal bones, Kyphoscoli... OMIM:618363
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Cranial nerve... OMIM:259710
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Arthritis, Anemia, Lymp... ORPHA:37748
Heart-Hand Syndrome Type 2
Joint stiffness, Abnormal morphology of ulna, Abnormality of the humerus, Micromelia, Brachydacty... ORPHA:1350
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the... OMIM:609813
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Failure to thrive OMIM:615085
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Oncogenic Osteomalacia
Abnormality of femur morphology, Tibial bowing, Fibrous dysplasia of the bones, Pathologic fractu... ORPHA:352540
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Lumbar hyperlordosis, Metaphyseal spurs, Dysplastic iliac wing, Narrow greate... OMIM:608728
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Enlarged joints, Bowing of the legs, Lumbar hyperlordosis, Limited elbow extension, Limb undergro... ORPHA:156728
Melnick-Needles Syndrome
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... ORPHA:2484
Osteogenesis Imperfecta, Type Xiii
Decreased body weight, Osteoporosis, Increased bone mineral density, Joint hypermobility OMIM:614856
Epiphyseal Chondrodysplasia, Miura Type
Epiphyseal dysplasia, Long hallux, Arachnodactyly, Osteopenia, Finger clinodactyly, Scoliosis, Br... OMIM:615923
Infantile Sialic Acid Storage Disease
Metaphyseal irregularity, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Osteopenia, Conjuga... OMIM:269920
Weismann-Netter Syndrome
Kyphosis, Calvarial hyperostosis, Horizontal sacrum, Scoliosis, Fibular bowing, Lateral femoral b... OMIM:112350
Hypophosphatemic Rickets, X-Linked Dominant
Spinal canal stenosis, Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal d... OMIM:307800
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Micromelia, Short neck, Platyspondyly, Anterior bowing of long bones,... OMIM:255800
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopetrosis, Hepatosplenomegaly, Reticulocytos... OMIM:611490
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... OMIM:607078
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Vacuolated lymphocytes, Rod-cone dystrophy OMIM:609055
Osteosarcoma
Abnormal femoral metaphysis morphology, Joint swelling, Abnormal tibial metaphysis morphology, Pa... ORPHA:668
Buschke-Ollendorff Syndrome
Joint stiffness, Recurrent fractures, Abnormal metaphysis morphology, Craniosynostosis, Flexion c... ORPHA:1306
Marshall-Smith Syndrome
Accelerated skeletal maturation, Craniosynostosis, Reduced bone mineral density, Scoliosis, Slend... ORPHA:561
Osteogenesis Imperfecta, Type Xvi
Recurrent fractures, Osteopenia, Decreased calvarial ossification, Platyspondyly, Angulated humer... OMIM:616229
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... OMIM:156500
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Short neck, Abnormal epiphysis morphology, Generalized bone demineralization, Prem... ORPHA:93352
Dysosteosclerosis
Irregular vertebral endplates, Recurrent fractures, Hypoplastic vertebral bodies, Increased bone ... ORPHA:1782
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Radioulnar synostos... ORPHA:2725
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Gait disturbance, Osteopenia, Bone cyst, Pathologic fracture OMIM:618193
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Chondroectodermal Dysplasia With Night Blindness
Epiphyseal dysplasia, Metaphyseal dysplasia, Metaphyseal irregularity, Fractures of the long bone... ORPHA:319195
Spondyloepiphyseal Dysplasia, Stanescu Type
Joint stiffness, Kyphoscoliosis, Beaking of vertebral bodies, Hypoplastic ilia, Platyspondyly, St... OMIM:616583
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Broad-based gait, Hip contracture, Kyphosis, Talipes equinovarus, Tip-toe gait, Scoliosis, Hyperl... OMIM:615290
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Radially deviated wrists, Coxa vara, Osteoarthritis, Abnormality of the epiphyses of the feet, Ab... ORPHA:166002
Hypophosphatasia, Infantile
Bowing of the legs, Metaphyseal cupping, Widely patent fontanelles and sutures, Craniosynostosis,... OMIM:241500
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Scoliosis, Osteoporosis, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:618234
Kyphomelic Dysplasia
Joint stiffness, Micromelia, Abnormal form of the vertebral bodies, Large hands, Bowing of the lo... ORPHA:1801
Metachondromatosis
Abnormal joint morphology, Bowing of the long bones OMIM:156250
Thoracomelic Dysplasia
Short neck, Hyperlordosis, Abnormality of fibula morphology, Limb undergrowth, Genu valgum, Elbow... ORPHA:1803
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Short neck, Platyspondyly, Upper limb undergrowth, Genu valgum, Kn... ORPHA:94068
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Broad metacarpals, Osteolysis involving bones of the lower limbs, Osteopenia, Osteoporosis, Abnor... ORPHA:371428
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the ... ORPHA:1275
Robin Sequence-Oligodactyly Syndrome
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand... ORPHA:3104
Dent Disease 1
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... OMIM:300009
Juvenile Paget Disease
Recurrent fractures, Osteoporosis, Bowing of the long bones, Hypertension, Coarse metaphyseal tra... ORPHA:2801
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Optic atrophy, Optic disc pallor, Hip subluxation, Pancytopenia, Cranial hyperostos... OMIM:259720
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, Osteopenia, Broad femoral neck, Wormian bones, Short tubular bone... ORPHA:85184
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Thin metacarpal cortices, Thin bony cortex, C1-C2 subluxation, Delayed closure of the... OMIM:259600
Langer Mesomelic Dysplasia
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... ORPHA:2632
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Recurrent fractures, Reduced bone mineral density, Recurrent joint dislocation, Scoliosis, Arteri... OMIM:619115
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Difficulty walking, Scoliosis OMIM:617087
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Scoliosis, Abnormal form of the ve... ORPHA:2769
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Immunodeficiency 8
Lymphopenia OMIM:615401
Immunodeficiency 40
Lymphopenia OMIM:616433
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Erlenmeyer flask deformity of the femurs, Osteopenia, Hypocholesterol... OMIM:610539
Camurati-Engelmann Disease
Abnormality of femur morphology, Hepatomegaly, Abnormality of the humerus, Optic atrophy, Genu va... ORPHA:1328
Neuronopathy, Distal Hereditary Motor, Type Viii
Hip contracture, Kyphosis, Talipes equinovarus, Scoliosis, Hyperlordosis, Elbow flexion contractu... OMIM:600175
Alpha-Mannosidosis
Avascular necrosis, Kyphosis, Short neck, Scoliosis, Arthritis, Synostosis of joints, Hypoplastic... ORPHA:61
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Short long bone, Enlarged metaphyses, Platyspondyly, Irregular femoral epiphysis, Genu... OMIM:618728
Storage Pool Platelet Disease
Acute leukemia, Decreased mean platelet volume OMIM:185050
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short neck, Platyspondyly, Rhizomelia, Abnormal epiphysis morphology, Bowing of the long bones, P... ORPHA:93267
Ring Chromosome 4 Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormality of the upp... ORPHA:1447
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Abnormal... ORPHA:2019
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, Kyphosis, Metaphyseal dysplasia, Platyspondyly, Brachydactyly, Ost... OMIM:234250
Majeed Syndrome
Metaphyseal irregularity, Osteomyelitis, Hepatomegaly, Increased bone mineral density, Leukocytos... ORPHA:77297
Bethlem Myopathy 2
Kyphosis, Flexion contracture, Scoliosis, Hip dislocation, Distal joint laxity OMIM:616471
Duchenne And Becker Muscular Dystrophy
Joint stiffness, Reduced bone mineral density, Scoliosis, Slender long bone, Hyperlordosis, Gait ... ORPHA:262
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Intestinal bleeding, Metaphyseal sclerosis, Osteopenia, Retinal telangiectasia, Scoliosis... OMIM:612199
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Lumbar hyperlordosis, Generalized joint laxity, Broad femoral neck, Short f... OMIM:609325
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent fractures, Craniosynostosis, Osteopenia, Scoliosis, Joint hypermobility OMIM:147060
Stuve-Wiedemann Syndrome 2
Scoliosis, Camptodactyly, Bowing of the long bones, Pulmonary arterial hypertension, Short long b... OMIM:619751
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Recurrent fractures, Wormian bones ORPHA:2773
Achondrogenesis Type 1A
Recurrent fractures, Short neck, Micromelia, Short foot, Abnormal enchondral ossification, Short ... ORPHA:93299
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Kyphosis, Ataxia, Lumbar hyperlordosis, Talipes equinovarus, Inability to walk,... OMIM:616756
Contractural Arachnodactyly, Congenital
Osteopenia, Short neck, Ulnar deviation of finger, Bowing of the long bones, Patellar dislocation... OMIM:121050
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Recurrent fractures, 2-3 toe syndactyly, Osteopenia, Delayed skeletal maturation, Joint hyperflex... ORPHA:2324
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Camptodactyly of finger, Micromelia,... ORPHA:2633
Congenital Bowing Of Long Bones
Bowing of the long bones, Hyperlordosis ORPHA:2292
Ethanolaminosis
Cardiomegaly OMIM:227150
Spastic Paraplegia 18, Autosomal Recessive
Gait disturbance, Kyphosis, Scoliosis OMIM:611225
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Richieri Costa-Da Silva Syndrome
Beaking of vertebral bodies, Kyphoscoliosis, Inability to walk, Falls, Genu valgum, Generalized b... ORPHA:3101
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Abnormality of the humerus, Thin bony cortex, Abnormal bone stru... ORPHA:249
Angioosteohypotrophic Syndrome
Telangiectasia of the skin, Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Thin... ORPHA:75508
Multiple Epiphyseal Dysplasia Type 4
Short metacarpal, Accelerated skeletal maturation, Upper limb undergrowth, Arthralgia of the hip,... ORPHA:93307
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia ORPHA:46532
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... ORPHA:2639
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Joint swelling, Progressive joint destruction, Limitation of joint mobility, Reduced bone mineral... ORPHA:85435
Infantile Systemic Hyalinosis
Joint stiffness, Recurrent fractures, Telangiectasia of the skin, Osteopenia, Camptodactyly of fi... ORPHA:2176
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Liberfarb Syndrome
Delayed epiphyseal ossification, Retinal degeneration, Retinal pigment epithelial mottling, Metap... OMIM:618889
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Metaphyseal dysplasia, Cranial nerve compression, Macular atrophy OMIM:250450
Wiskott-Aldrich Syndrome
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... OMIM:301000
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Short neck, Platyspondyly, Rh... OMIM:223800
Wiskott-Aldrich Syndrome, Autosomal Dominant
Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... OMIM:600903
Proteus Syndrome
Spinal canal stenosis, Kyphoscoliosis, Calvarial hyperostosis, Thin bony cortex, Mandibular hyper... OMIM:176920
Thrombocytopenia 1
Joint hemorrhage, Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean plat... OMIM:313900
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... OMIM:609616
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia OMIM:200900
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Anterior beaking of lumbar vertebrae, Short ne... OMIM:253000
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Talipes equinovarus, Flexion contracture, Overlapping fingers, Congenital hip dislocati... OMIM:618291
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Kyphoscoliosi... ORPHA:93316
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Kyphosis, Pulmonic stenosis, Short neck, Abnormality of the humer... ORPHA:3098
Osteogenesis Imperfecta, Type I
Recurrent fractures, Biconcave flattened vertebrae, Femoral bowing, Osteopenia, Wormian bones, In... OMIM:166200
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Coxa vara, Tibial bowing, Distal femoral bowing, Hypophosphatemic ric... ORPHA:289176
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Arthrogryposis, Distal, Type 4
Kyphosis, Talipes equinovarus, 2-5 finger cutaneous syndactyly, Osteopenia, Deviation of the 2nd ... OMIM:609128
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... OMIM:271650
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Abnormality of fibula morphology, Abno... ORPHA:1837
Odontochondrodysplasia
Cone-shaped epiphysis, Platyspondyly, Micromelia, Scoliosis, Square pelvis bone, Bowing of the lo... ORPHA:166272
Pachydermoperiostosis
Avascular necrosis, Joint swelling, Osteomyelitis, Small hand, Scoliosis, Genu varum, Osteoporosi... ORPHA:2796
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Joint hypermobility OMIM:618323
Leri Pleonosteosis
Joint stiffness, Abnormality of finger, Genu recurvatum, Abnormally straight spine, Camptodactyly... ORPHA:2900
Spondylometaphyseal Dysplasia, Axial
Coxa vara, Retinal degeneration, Narrow greater sciatic notch, Splenomegaly, Rod-cone dystrophy, ... OMIM:602271
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromelia, Small epiphyses, S... OMIM:184260
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... OMIM:155100
Pycnodysostosis
Rhizomelia, Spondylolisthesis, Increased bone mineral density, Scoliosis, Hyperlordosis, Joint la... ORPHA:763
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Lumbar hyperlordosis, Narro... OMIM:602557
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Ataxia, Platyspondyly... OMIM:230600
Dysostosis, Stanescu Type
Kyphosis, Increased bone mineral density, Massively thickened long bone cortices, Short neck, Mic... ORPHA:1798
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Recurrent fractures, Small abnormally formed scapulae, Tibial... ORPHA:140
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Gait disturbance, Kyphosis, Cubitus valgus, Joint hyperflexibility ORPHA:1875
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Tricuspid stenosis, Short neck, Hypoplasia of the capital femoral epiphysis, Hypoplasia of the ul... OMIM:143095
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna ORPHA:1118
Hypergonadotropic Hypogonadism-Cataract Syndrome
Recurrent fractures, Delayed skeletal maturation, Osteoporosis, Reduced bone mineral density ORPHA:2410
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Adducted thumb, Arachnodactyly, Shoulder dislocation, Scoliosis, Gait disturbance, Aort... ORPHA:2181
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... OMIM:184250
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Inguinal hernia, Splenomegaly, Cherry red spot of the macul... OMIM:256550
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Ataxia, Dysmetria, Camptodactyly of finger, Scoliosis, Osteoporosis, Abnormality of the... ORPHA:48431
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Bowing of the legs, Hypophosphatemic rickets, Reduced bone mineral density, Osteomalacia, Patholo... ORPHA:157215
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Kyphosis, Aortic valve stenosis, Constricted i... OMIM:253010
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, Short neck, Platyspondyly, Genu valgum, Hip sub... OMIM:271640
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Mesomelic leg shortening, Camptodactyly of finger, Bowing of the arm, Mesomel... OMIM:249710
Dermatosparaxis Ehlers-Danlos Syndrome
Coxa vara, Joint stiffness, Joint dislocation, Osteopenia, Hip dysplasia, Avascular necrosis of t... ORPHA:1901
Gaucher Disease Type 1
Hepatomegaly, Increased bone mineral density, Splenomegaly, Cirrhosis, Leukopenia, Osteopenia, Os... ORPHA:77259
X-Linked Hypophosphatemia
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, Bo... ORPHA:89936
Vitamin D-Dependent Rickets, Type 3
Bowing of the legs, Metaphyseal cupping, Osteopenia, Flared metaphysis, Genu varum OMIM:619073
Congenital Disorder Of Glycosylation, Type Iik
Epiphyseal dysplasia, Metaphyseal dysplasia, Kyphoscoliosis, Osteoporosis, Joint laxity, Diaphyse... OMIM:614727
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Decreased calvarial ossification, Bowing of limbs due to multiple fractures, Wormian bones, Multi... OMIM:259410
Chst3-Related Skeletal Dysplasia
Enlarged joints, Kyphoscoliosis, Flexion contracture, Brachydactyly, Irregular epiphyses, Scolios... ORPHA:263463
Acrorenal Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormal morphology of ulna, Abnormality of tibia m... ORPHA:971
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Tapered finger, Foot joint contracture, Talipes equinovarus, Flexion... ORPHA:536516
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... OMIM:615897
Brittle Cornea Syndrome
Arachnodactyly, Pulmonic stenosis, Scoliosis, Osteoporosis, Camptodactyly, Gait disturbance, Abno... ORPHA:90354
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Osteopenia, Cone-sha... ORPHA:457395
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Flexion contracture, Adducted thumb, Short femur, Osteopenia, Flared ... OMIM:616897
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Slender long bones with narrow diaphyses, Osteopenia, Platyspondyly,... ORPHA:536471
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Irregular vertebral endplates, Dislocated radial head, Kyphoscoliosis, Flat capital femoral epiph... OMIM:612350
Neonatal Severe Primary Hyperparathyroidism
Recurrent fractures, Abnormal metaphysis morphology ORPHA:417
Mucolipidosis Iii Gamma
Joint stiffness, Kyphosis, Flat capital femoral epiphysis, Aortic valve stenosis, Flared iliac wi... OMIM:252605
Grange Syndrome
Syndactyly, Aortic regurgitation, Increased susceptibility to fractures, Hypertension, Short palm ORPHA:79094
Immunodeficiency 69
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... OMIM:618963
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Abnormally ossified vertebrae, Short neck, Platyspondyly, Flared femoral metaphy... ORPHA:1427
Multiple Pterygium Syndrome, Lethal Type
Akinesia, Multiple pterygia, Joint dislocation, Flexion contracture, Abnormal cervical curvature,... OMIM:253290
Shashi-Pena Syndrome
Kyphosis, Osteoporosis, Accelerated skeletal maturation, Scoliosis OMIM:617190
Dermatoosteolysis, Kirghizian Type
Osteoarthritis, Brachydactyly, Scoliosis, Abnormality of the wrist, Osteolysis, Tarsal synostosis... ORPHA:1657
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the ulna, Atrial septal defect, Talipes equinovarus, Aplasia/Hypoplasia of ... ORPHA:52056
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Accelerated skeletal maturation, Craniosynost... OMIM:250215
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Stuve-Wiedemann Syndrome 1
Enlarged joints, Femoral bowing, Short neck, Ulnar deviation of finger, Contracture of the proxim... OMIM:601559
Cole-Carpenter Syndrome 1
Recurrent fractures, Coronal craniosynostosis, Osteopenia, Orbital craniosynostosis, Scoliosis, V... OMIM:112240
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Kyphosis, Increased bone mineral density, Osteopenia, Short humerus, Ankylos... OMIM:239000
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Arthritis, Impaired platelet aggregatio... OMIM:210250
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hy... OMIM:209950
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis ORPHA:2786
Cole-Carpenter Syndrome
Recurrent fractures, Kyphosis, Crumpled long bones, Wormian bones, Scoliosis, Abnormal form of th... ORPHA:2050
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Talipes equinovarus, Small hand, Scoliosis, Short foot, Hip dislocation OMIM:300434
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Bowing of the legs, Osteomyelitis leading to amputation due to slow healing fractures, Stenosis o... OMIM:112250
Fetal Akinesia Deformation Sequence 4
Kyphosis, Flexion contracture, Short neck, Camptodactyly, Arthrogryposis multiplex congenita, Roc... OMIM:618393
Metaphyseal Chondrodysplasia, Jansen Type
Hip contracture, Clinodactyly of the 5th finger, Metaphyseal cupping, Osteopenia, Pathologic frac... OMIM:156400
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Coxa vara, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound of bone in central and posterior por... OMIM:313400