banner
Genes Phenotypes Help, News, Blog

Gene: Pth MGI:97799

Log in to follow

Gene Summary

Name:
parathyroid hormone
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased bone mineral density Pthtm1a(EUCOMM)Wtsi HOM   Early adult 9.83×10-05
abnormal retina morphology Pthtm1a(EUCOMM)Wtsi HOM   Early adult 7.97×10-05
decreased circulating calcium level Pthtm1a(EUCOMM)Wtsi HOM Early adult 5.72×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
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 Lateral Orientation

14 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

14 Images

View images
Download thumbnail Download
Anti-nuclear antibody assay

Images

6 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

14 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

View images
X-ray

XRay Images Forepaw

14 Images

View images
Legacy Phenotype Associated Images
Pthtm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Pthtm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Pthtm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Pthtm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Pthtm1a(EUCOMM)Wtsi
HOM, Female, WTSI

View all 70 images

Pthtm1a(EUCOMM)Wtsi
abnormal retinal pigmentation, HOM, Male, WTSI
Pthtm1a(EUCOMM)Wtsi
right eye, HOM, Female, WTSI
Pthtm1a(EUCOMM)Wtsi
abnormal retinal pigmentation, HOM, Male, WTSI
Pthtm1a(EUCOMM)Wtsi
abnormal retinal pigmentation, HOM, Female, WTSI

Human diseases caused by Pth mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Epiphyseal Dysplasia, Multiple, 1
Irregular vertebral endplates, Joint stiffness, Delayed epiphyseal ossification, Epiphyseal dyspl... OMIM:132400
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Abnormality of the third metatarsal bone, Sclerosis of foot bone, Thickened cort... ORPHA:564003
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Short metacarpal, Osteoarthritis, Platyspondyly, Micromelia, Synostosis of carpal bone... ORPHA:93351
Eiken Syndrome
Abnormal fingertip morphology, Thin bony cortex, Epiphyseal dysplasia, Metaphyseal irregularity, ... ORPHA:79106
Pseudopseudohypoparathyroidism
Short distal phalanx of the thumb, Ectopic ossification, Brachydactyly, Short 5th finger, Short 4... ORPHA:79445
Brachydactyly Type C
Clinodactyly of the 5th finger, Stippling of the epiphysis of the distal phalanx of the thumb, Ps... ORPHA:93384
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... ORPHA:1856
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Premature osteoarthritis, Limb joint contr... ORPHA:93314
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed ossification of carpal bones, ... OMIM:607078
Brachydactyly, Type A1
Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle ... OMIM:112500
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... OMIM:250460
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Epiphyseal Dysplasia, Multiple, 3
Delayed epiphyseal ossification, Epiphyseal dysplasia, Osteoarthritis, Irregular epiphyses, Abnor... OMIM:600969
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Craniofacial hyperostosis, Splenomegaly, Anemia, Abnormal form o... ORPHA:1802
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... OMIM:271650
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Clinodactyly of the 5th finger, Delayed ossification of carpal b... OMIM:182255
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric... OMIM:241520
Multiple Epiphyseal Dysplasia Type 4
Short metacarpal, Arthralgia of the hip, Abnormal hand morphology, Upper limb undergrowth, Genu v... ORPHA:93307
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... OMIM:271530
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Short neck,... OMIM:251450
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Pseudopseudohypoparathyroidism
Short neck, Brachydactyly, Osteoporosis, Pseudohypoparathyroidism, Short metatarsal, Short metaca... OMIM:612463
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of scaphoids, Synov... OMIM:609655
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of scaphoids, Synov... ORPHA:50809
Brachydactyly, Combined B And E Types
Short fifth metatarsal, Short fourth metatarsal, Broad distal phalanx of finger, Brachydactyly, S... OMIM:112440
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Elevated circulating parathyroid hormone level, Osteopenia, Metacarpal periosteal thickening, Ach... OMIM:617994
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Talipes equinovarus, Flat capital femoral epiphysis, Hip dysplasia, Brachyd... OMIM:226900
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Avascular necrosis of the ... OMIM:190351
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Van Buchem Disease
Optic atrophy from cranial nerve compression, Thickened cortex of long bones, Cranial hyperostosi... OMIM:239100
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Micrognathia, Brachydactyly, Broad thumb, Short metatarsal, Short metacarpal, P... ORPHA:1278
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Wahab Syndrome
Adducted thumb, Syndactyly, Ankylosis, Camptodactyly, Short foot, Clinodactyly, Short palm, Short... OMIM:615170
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Flared metaphysis, Platyspondyly, Short middle phalanx of the 2nd finger, ... OMIM:156510
Spondyloperipheral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Shortening of all proximal pha... OMIM:271700
Ruvalcaba Syndrome
Kyphosis, Cryptorchidism, Small hand, Micromelia, Short phalanx of finger, Limited elbow extensio... OMIM:180870
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal form of the vertebral bodies, Generaliz... ORPHA:2790
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Platyspo... OMIM:617719
Adamantinoma
Hypercalcemia, Pathologic fracture ORPHA:55881
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... OMIM:617974
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Osteopenia, Cone-sha... ORPHA:457395
Osteomesopyknosis
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... ORPHA:2777
Brachydactyly Type E
Short distal phalanx of finger, Short metacarpal, Upper limb asymmetry, Type E brachydactyly, Apl... ORPHA:93387
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromelia, Small epiphyses, S... OMIM:184260
Metaphyseal Chondrodysplasia, Kaitila Type
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short toe, Metaphys... OMIM:250230
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Platyspondyly, Rhizomelia, Short... OMIM:601438
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Broad ischia, Narrow greater sciatic notc... OMIM:609052
Jackson-Weiss Syndrome
2-3 toe syndactyly, Craniosynostosis, Broad hallux, Broad metatarsal, Hallux varus, Short metatar... OMIM:123150
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Short neck, Platyspondyly, Rh... OMIM:223800
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... OMIM:600785
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Micromelia, ... OMIM:250215
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Kyphosis, Abnormality of the thyroid gland, Abnor... ORPHA:3344
Pseudohypoparathyroidism, Type Ia
Short toe, Elevated circulating parathyroid hormone level, Short neck, Brachydactyly, Osteoporosi... OMIM:103580
Acrodysostosis
Spinal canal stenosis, Short toe, Abnormal morphology of ulna, Hypoplasia of the radius, Cone-sha... ORPHA:950
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... OMIM:113100
Saul-Wilson Syndrome
Short distal phalanx of finger, Wide anterior fontanel, Cone-shaped epiphyses of the phalanges of... OMIM:618150
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... ORPHA:174
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short distal phalanx of finger, Short hallux, Hallux varus, Hitchhiker thumb, Short metatarsal, S... OMIM:112450
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala... ORPHA:93409
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal hip bone morphology, Reduced bone mineral density, Foot acroosteolysis, Abnormality of t... ORPHA:970
Gnathodiaphyseal Dysplasia
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Scoliosis, Bowing of the long bones, T... ORPHA:53697
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Spondylometaphyseal Dysplasia, Pagnamenta Type
Femoral bowing, Platyspondyly, Thin bony cortex, Thoracic kyphosis, Pes planus, Broad thumb, Rhiz... OMIM:619638
Brachydactylous Dwarfism, Mseleni Type
Short toe, Osteoarthritis of the elbow, Osteopenia, Platyspondyly, Abnormality of the ankles, Abn... ORPHA:2619
Acromesomelic Dysplasia 1
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Thoracolumbar interpediculate ... OMIM:602875
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Irregular vertebral endplates, Dislocated radial head, Kyphoscoliosis, Flat capital femoral epiph... OMIM:612350
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
Acromicric Dysplasia
Fifth metacarpal with ulnar notch, Short metacarpal, Cone-shaped epiphysis, Short phalanx of fing... OMIM:102370
Smith-Mccort Dysplasia 2
Metaphyseal irregularity, Broad phalanx, Flattened femoral head, Platyspondyly, Broad femoral nec... OMIM:615222
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Elevated circulating parathyroid hormone level, Hyperparathyroidism, Pa... OMIM:612089
Smith-Mccort Dysplasia 1
Multicentric femoral head ossification, Metaphyseal irregularity, Hypoplastic acetabulae, Kyphosi... OMIM:607326
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Short neck, Brachydactyly, Osteoporosis, Hypothyr... OMIM:612462
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypophosphatemia, Hypocalcemia OMIM:619073
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Curved distal p... ORPHA:3152
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Metatropic Dysplasia
Joint stiffness, Kyphosis, Halberd-shaped pelvis, Coarse metaphyseal trabecularization, Clinodact... ORPHA:2635
Brachydactyly Type A2
Type A2 brachydactyly, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx o... ORPHA:93396
Angioosteohypotrophic Syndrome
Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upper limb undergrowth, Abnorma... ORPHA:75508
Hypophosphatemic Rickets
Joint stiffness, Precocious puberty, Fibrous dysplasia of the bones, Hyperthyroidism, Periapical ... ORPHA:437
Acromicric Dysplasia
Joint stiffness, Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Small hand, ... ORPHA:969
Brachydactyly, Type A1, B
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Broad distal ... OMIM:607004
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Coronal craniosynostosis, Micrognathia, Brachydactyly, Genu valgum, Short foot, Patell... OMIM:614078
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration, Flexion contracture OMIM:615883
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Metatropic Dysplasia
Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the femoral trochante... OMIM:156530
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Joint stiffness, Broad metacarpals, Short metatarsal, Genu recur... OMIM:151200
Roifman-Chitayat Syndrome
Osteopenia, Cone-shaped epiphysis, Short neck, Arthritis, Short metatarsal, Short metacarpal OMIM:613328
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Brachydactyly, Broad palm, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short foot, Short m... OMIM:611263
Progressive Osseous Heteroplasia
Osteoarthritis, Abnormality of the parathyroid gland, Brachydactyly, Ectopic ossification in musc... ORPHA:2762
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Short neck, Platyspondyly, Flared femoral metaphysis, Sandal gap, ... ORPHA:1427
Acromesomelic Dysplasia, Hunter-Thompson Type
Joint stiffness, Brachydactyly, Abnormality of the ankles, Scoliosis, Bilateral single transverse... ORPHA:968
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Rod-cone dystrophy, Osteoporosis, Increased bone... OMIM:136300
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Increased bone mineral density, Craniosynostosis ORPHA:178377
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Joint stiffness, Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow ... OMIM:608940
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... OMIM:304120
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Platyspondyly, Short neck, Biconcave vertebral bodies, Arthralgia ... ORPHA:93284
Multiple Epiphyseal Dysplasia Type 1
Joint stiffness, Delayed epiphyseal ossification, Coxa vara, Short long bone, Finger joint hyperm... ORPHA:93308
Czech Dysplasia
Irregular vertebral endplates, Coxa vara, Short toe, Flat capital femoral epiphysis, Short metaca... OMIM:609162
Diastrophic Dysplasia
Cervical kyphosis, Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Talipes equinovarus, Co... OMIM:222600
Ritscher-Schinzel Syndrome 3
Wide anterior fontanel, Shortening of all distal phalanges of the fingers, Short 1st metacarpal, ... OMIM:619135
Pyle Disease
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios... OMIM:265900
Adams-Oliver Syndrome 3
Short distal phalanx of finger, 2-3 toe syndactyly, Absent toe, Short palm, Short metatarsal, Sho... OMIM:614814
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
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
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Talipes equinovarus, Flat capital femoral epiphysis, Flexion c... OMIM:601560
Brachydactyly, Mononen Type
Absent distal phalanx of the 2nd toe, Short 1st metacarpal, Aplasia of the distal phalanx of the ... OMIM:301940
Satoyoshi Syndrome
Brachydactyly, Osteolytic defects of the phalanges of the hand, Pes planus, Genu valgum, Short me... OMIM:600705
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Irregular acetabular roof, Genu valgum, Generalized osteoporosis, Vertebral wedgin... ORPHA:1159
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Hypokalemia, Osteomalacia, Pathologic fracture, Elevated circulating creatinine con... OMIM:179800
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Rhizo-meso-acromelic limb shortening, Short neck, Platyspondyly, Small epiphyses, Short long bone... OMIM:611717
Dyssegmental Dysplasia With Glaucoma
Hip contracture, Delayed epiphyseal ossification, Wide anterior fontanel, Flared metaphysis, Plat... OMIM:601561
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... OMIM:611702
Heart-Hand Syndrome Type 2
Joint stiffness, Abnormal morphology of ulna, Abnormality of the humerus, Micromelia, Brachydacty... ORPHA:1350
Pde4D Haploinsufficiency Syndrome
Broad phalanx, Elevated circulating parathyroid hormone level, Cone-shaped epiphysis, Upper limb ... ORPHA:439822
Greenberg Dysplasia
Abnormal leukocyte morphology, Abnormal bone ossification, Anterior rib punctate calcifications, ... ORPHA:1426
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Abnormality of the hand, Platyspo... OMIM:609324
Cohen Syndrome
Lumbar hyperlordosis, Thoracic scoliosis, Neutropenia, Decreased response to growth hormone stimu... OMIM:216550
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Reduced bone mineral density ORPHA:172
Brachydactyly Type B
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... ORPHA:93383
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Overlapping toe, Craniosynostosis, Osteopenia, Femoral bowing, Short neck, Platyspondyly, Short f... OMIM:616723
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Acrodysostosis 1 With Or Without Hormone Resistance
Cone-shaped epiphyses of the phalanges of the hand, Calvarial hyperostosis, Elevated circulating ... OMIM:101800
Acromesomelic Dysplasia 2A
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... OMIM:200700
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphosis, Abnormal bone ossification... ORPHA:2114
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Platyspondyly, Arthralgia of the hip, Hip subluxation, Dysplasia of the femoral head, Abnormality... ORPHA:99642
Isolated Osteopoikilosis
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... ORPHA:166119
Progressive Pseudorheumatoid Dysplasia
Joint stiffness, Coxa vara, Kyphoscoliosis, Joint contracture of the hand, Enlarged metacarpophal... OMIM:208230
Acromesomelic Dysplasia 4
Broad phalanx, Platyspondyly, Broad finger, Genu valgum, Rhizomelia, Sandal gap, Prominent deltoi... OMIM:619636
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Osteogenesis Imperfecta, Type Viii
Recurrent fractures, Wide anterior fontanel, Type 1 collagen overmodification, Tibial bowing, Rad... OMIM:610915
Trichorhinophalangeal Syndrome, Type I
Flat capital femoral epiphysis, Cone-shaped epiphyses of the middle phalanges of the hand, Osteop... OMIM:190350
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleate... OMIM:108720
Ollier Disease
Joint stiffness, Precocious puberty, Anemia, Platyspondyly, Micromelia, Osteolysis, Abnormal cart... ORPHA:296
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... OMIM:300106
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Irregular vertebral endplates, Kyphoscoliosis, Squared-off... OMIM:271630
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Upper limb undergrowth, Pathologic fracture, Short foot, Abnormal cortical bone... ORPHA:166277
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Abnormal bone ossification, Genu varum, Patent ductus arteriosus, Bowing of the long bones, Coron... ORPHA:1952
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora... OMIM:609223
Acrodysostosis 2 With Or Without Hormone Resistance
Spinal canal stenosis, Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Congenital ... OMIM:614613
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Medullary thyroid carcinoma, Pes cavus, Pheochromocytoma, Scoliosis, Hyperlordosis, Pro... OMIM:162300
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Calvarial osteoscl... ORPHA:93324
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Irregular vertebral endplates, Hip contracture, Advanced ossification of carpal bones, Kyphoscoli... OMIM:618363
Maffucci Syndrome
Recurrent fractures, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Goiter, Neoplasm o... ORPHA:163634
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Short distal phalanx of finger, Hypoplastic sacrum, Small hand, Osteopenia, Cone-shaped epiphysis... OMIM:614813
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Osteoglophonic Dysplasia
Broad metacarpals, Broad phalanx, Short metatarsal, Cryptorchidism, Craniosynostosis, Short neck,... OMIM:166250
Exostoses, Multiple, Type Ii
Coxa vara, Madelung-like forearm deformities, Genu valgum, Protuberances at ends of long bones, P... OMIM:133701
Exostoses, Multiple, Type I
Coxa vara, Madelung-like forearm deformities, Genu valgum, Protuberances at ends of long bones, P... OMIM:133700
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Reduced bone mineral density, Slender long bone, Thin bony cortex, Decreased... OMIM:619795
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flat capital femoral epiphysis, Flexion contracture, Osteopenia, Platyspondyly, Broad femoral nec... ORPHA:157965
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Short metacarpal OMIM:112410
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short metatarsal, Type E brachydactyly, Short 4th metacarpal OMIM:113301
Leri-Weill Dyschondrosteosis
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... OMIM:127300
Brachydactyly-Nystagmus-Cerebellar Ataxia
Short metatarsal, Brachydactyly, Short metacarpal OMIM:113400
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Craniosynostosis, Limitation of knee mobility, Single transvers... ORPHA:1826
Split-Hand/Foot Malformation 4
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... OMIM:605289
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis OMIM:607634
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Beaking of vertebral bodies, Lumbar hyperlordosis, Short metacarpal, Flexio... OMIM:215150
Liberfarb Syndrome
Delayed epiphyseal ossification, Retinal degeneration, Retinal pigment epithelial mottling, Optic... OMIM:618889
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Postaxial pol... OMIM:617102
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Metaphyseal irregularity, Coxa vara, Lumbar hyperlordosis, Narro... OMIM:602557
Linear Verrucous Nevus Syndrome
Genu recurvatum, Reduced bone mineral density, Scoliosis, Talipes, Short metacarpal, Toe syndactyly ORPHA:2611
Albers-Schönberg Osteopetrosis
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Osteoarthritis, Arthr... ORPHA:53
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... ORPHA:370010
Brachydactyly, Type E2
Short metatarsal, Brachydactyly, Short metacarpal OMIM:613382
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Short long bone, Enlarged metaphyses, Platyspondyly, Irregular femoral epiphysis, Genu... OMIM:618728
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Splenomegaly, Abnormality of limb bone morphology, Limb undergrow... ORPHA:2204
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Bone cyst, Abnormal hip bone morphology, Osteomalacia, Genu varum, Scoliosis... ORPHA:93160
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... OMIM:600081
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Increased intervertebral space, Short ribs, Metaphyseal widening, Br... OMIM:618961
Jackson-Weiss Syndrome
2-3 toe syndactyly, Short metatarsal, Split foot, Broad hallux phalanx, Symphalangism affecting t... ORPHA:1540
Desbuquois Dysplasia 2
Cutaneous syndactyly, Monkey wrench femoral neck, Short neck, Platyspondyly, Single transverse pa... OMIM:615777
Multiple Epiphyseal Dysplasia, Beighton Type
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Pedal edema, Intervertebral space... ORPHA:166011
Marinesco-Sjogren Syndrome
Kyphosis, Flexion contracture, Hypergonadotropic hypogonadism, Scoliosis, Pes planus, Cubitus val... OMIM:248800
Summitt Syndrome
Clinodactyly of the 5th finger, Craniosynostosis, Camptodactyly of finger, Brachydactyly, Genu va... ORPHA:3210
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Diaphyseal sclerosis, Papilledema, Optic atrophy, Craniofacial osteosclerosis... OMIM:122860
Pseudohypoparathyroidism Type 1C
Short fifth metatarsal, Increased bone mineral density, Reduced circulating prolactin concentrati... ORPHA:79444
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... OMIM:601376
Osteogenesis Imperfecta, Type V
Recurrent fractures, Limited pronation/supination of forearm, Anterior radial head dislocation, H... OMIM:610967
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormality of the ankles, Abnormal ilium morphology, Abnormal vertebral morpholog... ORPHA:163665
Dysspondyloenchondromatosis
Vertebral segmentation defect, Kyphoscoliosis, Generalized joint laxity, Osteoarthritis, Platyspo... ORPHA:85198
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Micro... ORPHA:93346
Heyn-Sproul-Jackson Syndrome
Broad metacarpals, Broad phalanx, 11 pairs of ribs, Short phalanx of finger, Short metacarpal OMIM:618724
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Acrocraniofacial Dysostosis
Craniosynostosis, Short 1st metacarpal, Micrognathia, Abnormality of the vertebral column, Metata... OMIM:201050
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Hypoplasia of the radius, Short neck, Hypoplasia of the ulna, Talipes equinovar... OMIM:609945
Acromegaloid Facial Appearance Syndrome
Joint hypermobility, Micrognathia, Tapered finger, Large hands, Short 5th metacarpal OMIM:102150
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Wide anterior fontanel, Metaphyseal cupping, Femoral bowing, Trident... OMIM:618853
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Familial Expansile Osteolysis
Osteolysis, Thin bony cortex, Bowing of the long bones, Pathologic fracture OMIM:174810
Hypochondroplasia
Lumbar hyperlordosis, Aplasia/hypoplasia of the extremities, Flared metaphysis, Brachydactyly, Ge... OMIM:146000
Larsen Syndrome
Talipes equinovalgus, Elbow dislocation, Talipes equinovarus, Accessory carpal bones, Knee disloc... OMIM:150250
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Paternal Uniparental Disomy Of Chromosome X
Short neck, Cubitus valgus, Short metacarpal, Decreased testicular size ORPHA:261524
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Pituitary growth hormone cell adenoma, Thymoma, Intestinal carcinoid, ... ORPHA:652
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Osteomalacia, Rickets, Hypocalcemia ORPHA:89937
Spondylometaphyseal Dysplasia, Kozlowski Type
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Delayed oss... OMIM:184252
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Sclerosis of skull base, Kyphosis, Hyperextensibility of the finger joints, Plat... OMIM:313420
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal hip bone morphology, Micrognathia, Short neck, Abnormal form of the... ORPHA:1486
Chondroectodermal Dysplasia With Night Blindness
Talipes calcaneovarus, Epiphyseal dysplasia, Metaphyseal irregularity, Metaphyseal dysplasia, Ost... ORPHA:319195
Spondyloepiphyseal Dysplasia, Stanescu Type
Joint stiffness, Kyphoscoliosis, Beaking of vertebral bodies, Hypoplastic ilia, Platyspondyly, St... OMIM:616583
Cranio-Osteoarthropathy
Joint stiffness, Osteoarthritis, Abnormality of tibia morphology, Arthritis, Deviation of finger,... ORPHA:1525
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hallux, Spinal rigidit... ORPHA:337
Hand-Foot-Genital Syndrome
Clinodactyly of the 5th finger, Delayed ossification of carpal bones, Delayed tarsal ossification... OMIM:140000
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short distal phalanx of finger, Talipes equinovarus, Abnormal cartilage matrix, Abnormal bone str... ORPHA:86822
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Abnormal form of the vertebral b... ORPHA:2831
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Multiple Osteochondromas
Abnormality of femur morphology, Limitation of knee mobility, Abnormal bone structure, Abnormal h... ORPHA:321
Greenberg Dysplasia
Anterior rib punctate calcifications, Horizontal sacrum, Platyspondyly, 11 pairs of ribs, Microme... OMIM:215140
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Trichorhinophalangeal Syndrome Type 1 And 3
Short distal phalanx of finger, Clinodactyly of the 5th finger, Micrognathia, Camptodactyly of fi... ORPHA:77258
Bruck Syndrome 1
Hip contracture, Coxa vara, Kyphosis, Talipes equinovarus, Platyspondyly, Scoliosis, Osteoporosis... OMIM:259450
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Brachydactyly, Syndactyly, Radioulnar synostosis, Clinodactyly, Tarsal synosto... OMIM:605282
Melorheostosis
Joint stiffness, Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in... ORPHA:2485
Split-Hand/Foot Malformation 2
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly OMIM:313350
Ck Syndrome
Kyphosis, Micrognathia, Scoliosis, Hyperlordosis, Abnormal digit morphology, Joint hypermobility,... OMIM:300831
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... OMIM:184250
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Secondary hyperparathyroidism, Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal os... OMIM:264700
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short neck, Brachydactyly, Pseudohypoparathyroidism, Short metatarsal, Short metacarpal OMIM:617157
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Clinodactyly of the 5th finger, Brachydactyly, Patent ductus arteriosus, Short 5th met... OMIM:604381
Brachydactyly-Arterial Hypertension Syndrome
Brachydactyly, Short phalanx of finger, Short metacarpal ORPHA:1276
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... ORPHA:276152
Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly
Split hand, Short metatarsal, Type B brachydactyly, Aplasia/Hypoplasia of the distal phalanges of... OMIM:106990
Dyggve-Melchior-Clausen Syndrome, X-Linked
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Lumbar hyperlordosis, Hypoplastic ... OMIM:304950
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Short neck, Abnormal epiphysis morphology, Generalized bone demineralization, Prem... ORPHA:93352
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Roifman Syndrome
Irregular vertebral endplates, Hip contracture, Short toe, Clinodactyly of the 5th finger, Spleno... OMIM:616651
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Mesomelic arm shortening, Short humer... OMIM:171480
Brachymetatarsus Iv
Short 4th toe, Short fourth metatarsal OMIM:113475
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Hypocalcemic tetany, Hyperpho... ORPHA:94089
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... OMIM:156500
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Elevated circulating parathyroid hormone level, Short neck, Short... ORPHA:79443
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Caffey Disease
Cortical thickening of long bone diaphyses, Periosteal thickening of long tubular bones, Calvaria... ORPHA:1310
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Short metacarpal, Short thumb ORPHA:2489
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Kyphoscoliosi... ORPHA:93316
Intermediate Osteopetrosis
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... ORPHA:210110
Chst3-Related Skeletal Dysplasia
Kyphoscoliosis, Flexion contracture, Irregular epiphyses, Brachydactyly, Scoliosis, Abnormal form... ORPHA:263463
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wide anterior fontanel, Increased bone mineral density, Osteopenia, Micrognathia, Broad femoral n... ORPHA:85184
Van Maldergem Syndrome 2
Wide anterior fontanel, Short clavicles, Talipes equinovarus, Short fourth metatarsal, Tracheomal... OMIM:615546
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:300554
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Mueller-Weiss Syndrome
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... ORPHA:566943
Osteopetrosis, Autosomal Recessive 1
Osteomyelitis, Hypocalcemia, Increased bone mineral density, Craniosynostosis, Osteopetrosis, Pat... OMIM:259700
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Fragmented epiphyses, Slender finger, Platyspondyly, Genu valgum, Abnormality of the curvature of... ORPHA:93360
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Decreas... ORPHA:1263
Autoimmune Hypoparathyroidism
Hypocalcemia, Increased bone mineral density, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemi... ORPHA:36913
Hypophosphatemic Rickets, X-Linked Dominant
Spinal canal stenosis, Metaphyseal irregularity, Hypophosphatemic rickets, Tibial bowing, Bowing ... OMIM:307800
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Lumbar hyperlordosis, Talipes equinovarus, Coronal cleft verte... OMIM:256050
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... OMIM:176240
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Irregular vertebral endplates, Metaphyseal irregularity, Slender finger, Flared metaphysis, Platy... OMIM:601668
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Platyspondyly, Hyposegmentation of neutrophil nuclei, Broad hallux, Genu valgum, ... OMIM:618019
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Small cervical vertebral b... OMIM:135100
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped epiphyses of the phalanges of the hand, Short neck, 11 pairs of ribs, Platyspondyly, ... OMIM:250220
Atelosteogenesis Type Ii
Broad phalanx, Short neck, Micromelia, Rhizomelic arm shortening, Upper limb undergrowth, Dumbbel... ORPHA:56304
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, Short neck, 11 pairs of ribs, Platyspondyly, Ge... OMIM:271640
C Syndrome
Dislocated radial head, Micrognathia, Micromelia, Scoliosis, Fused sternal ossification centers, ... OMIM:211750
Weill-Marchesani Syndrome 2
Broad metacarpals, Joint stiffness, Spinal canal stenosis, Lumbar hyperlordosis, Broad phalanges ... OMIM:608328
Distal Monosomy 10Q
2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Lumbar hyperlordosis, Prominent fin... ORPHA:96148
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... OMIM:166600
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular tarsal ossification, Cone-shaped epiphyses of the phalanges of the hand, Irregular carp... OMIM:226980
Brachydactyly, Type A1, With Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, And Mental Retardation
Brachydactyly, Scoliosis, Aplasia/Hypoplasia of toe, Short proximal phalanx of finger, Short midd... OMIM:613627
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:241530
Andersen Cardiodysrhythmic Periodic Paralysis
Clinodactyly of the 5th finger, Hyperthyroidism, Short mandibular rami, Small hand, Micrognathia,... OMIM:170390
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Joint hypermobili... OMIM:114000
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Vitamin D-Dependent Rickets, Type 2A
Secondary hyperparathyroidism, Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal os... OMIM:277440
Ruvalcaba Syndrome
Kyphosis, Clinodactyly of the 5th finger, Small hand, Cone-shaped epiphysis, Synostosis of carpal... ORPHA:3121
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormal hand morphology, Patent ductus arteriosus, Short 5th met... ORPHA:228190
Grant Syndrome
Abnormality of the glenoid fossa, Micrognathia, Decreased skull ossification, Bowing of the long ... ORPHA:2097
Van Maldergem Syndrome 1
Wide anterior fontanel, Short clavicles, Talipes equinovarus, Short fourth metatarsal, Tracheomal... OMIM:601390
Brachydactyly, Type E1
Short clavicles, Brachydactyly, Type E brachydactyly, Short metatarsal, Short metacarpal OMIM:113300
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Wide anterior fontanel, Abnormal bone ossification, Abnormal femoral neck/head morphology, Slende... ORPHA:163649
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Broad phalanx, Platyspondyly, Micromelia, C1-C2 subluxation, Hip subluxation, Short long bone, Ep... OMIM:271665
Brachydactyly-Distal Symphalangism Syndrome
Distal symphalangism of hands, Short 1st metacarpal, Camptodactyly of finger, Chess-pawn distal p... OMIM:113450
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Short neck, Platyspondyly, Upper limb undergrowth, Genu valgum, Sm... ORPHA:94068
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Increased bone mineral density, Papilledema, Retinal calcification, Hyperphosphatem... OMIM:127000
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Tibial bowing, Coxa vara,... ORPHA:289176
Lethal Recessive Chondrodysplasia
Micrognathia, Micromelia, Limb undergrowth, Generalized osteosclerosis, Flared elbow metaphyses, ... ORPHA:1423
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Otopalatodigital Syndrome, Type I
Short 3rd metacarpal, Broad hallux, Sandal gap, Broad distal phalanx of the thumb, Absent frontal... OMIM:311300
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Bilateral talipes equinovarus, Shortening of all metacarpals, Platyspondy... OMIM:601356
Achondrogenesis Type 2
Abnormal bone ossification, Unossified sacrum, Delayed proximal femoral epiphyseal ossification, ... ORPHA:93296
Gorham-Stout Disease
Abnormality of femur morphology, Osteomyelitis, Abnormal bone ossification, Abnormality of finger... ORPHA:73
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Platyspondyly, Ulnar deviation of finger, Abnormal epiphysis morphology, Abnormal metaphysis morp... ORPHA:93359
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Joint stiffness, Beaking of vertebral bodies, Platyspondyly, Hip o... OMIM:604864
Axial Spondylometaphyseal Dysplasia
Osteopenia, Platyspondyly, Upper limb undergrowth, Narrow greater sciatic notch, Short ribs, Scol... ORPHA:168549
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... OMIM:619598
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal cupping, Severe limb shortening, Short ribs, Decreased cranial base ossification, Hyp... OMIM:151210
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies, Upper limb ... ORPHA:93315
Weaver Syndrome
Hydrocele testis, Prominent fingertip pads, Short fourth metatarsal, Flared humeral metaphysis, S... OMIM:277590
Zechi-Ceide Syndrome
Short distal phalanx of finger, Short metatarsal, Sandal gap, Long foot OMIM:612916
Chondrodysplasia-Disorder Of Sex Development Syndrome
Increased skull ossification, Micromelia, Short phalanx of finger, Abnormal shoulder morphology, ... ORPHA:1422
Acromesomelic Dysplasia, Grebe Type
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Synostosis ... ORPHA:2098
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Intrinsic hand muscle atrophy, Thoracic scoliosis, Flexion contracture, Pes cavus, Camptodactyly ... ORPHA:324442
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of finger, Short distal phalanx of toe, Short 1st metacarpal, Brachydactyly,... OMIM:601957
Melnick-Needles Syndrome
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... ORPHA:2484
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Thin bony cortex, Thin metacarpal cortices, C1-C2 subluxation, Osteolysis involving t... OMIM:259600
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short neck, Hypoplasia of the capital femoral epiphysis, Hypoplasia of the ulna, Genu valgum, Rhi... OMIM:143095
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Craniosynostosis, Severe platyspondyly, Sacral dimple, Narrow greater sciatic notch, Increased in... ORPHA:508533
Verloove Vanhorick-Brubakk Syndrome
Abnormality of femur morphology, Micrognathia, Abnormality of the parathyroid gland, Abnormal for... ORPHA:3429
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Kniest Dysplasia
Hip contracture, Delayed epiphyseal ossification, Tibial bowing, Coxa vara, Coronal cleft vertebr... OMIM:156550
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Spina bifida occulta at S1, Short 4th metacarpal, Abnormal vertebral morphology, Cutan... OMIM:601829
Chromosome 2Q37 Deletion Syndrome
Short toe, Short metatarsal, Short phalanx of finger, Short metacarpal OMIM:600430
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Pseudohypoparathyroidism, Cryptorchidism, Short fourth metat... ORPHA:464288
Hypervitaminosis A, Susceptibility To
Papilledema, Hypercalcemia OMIM:240150
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Increased bone mineral density, Retinal degeneration, Osteopenia, Retinopath... OMIM:239000
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Metaphyseal widening, Flared metaphysis... ORPHA:2502
Sillence Syndrome
Platyspondyly, Abnormal vertebral morphology, Large tarsal bones, Back pain, Pes cavus, Chess-paw... ORPHA:3168
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, Kyphosis, Metaphyseal dysplasia, Platyspondyly, Brachydactyly, Ost... OMIM:234250
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Cone-shaped epiphysis, Platyspondyly, Osteoporosis ORPHA:71267
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Ovarian cyst, Abnormality of the humerus, Thin bony cortex, Abno... ORPHA:249
Anauxetic Dysplasia 1
Hip contracture, Short toe, Lumbar hyperlordosis, Delayed ossification of carpal bones, Atlantoax... OMIM:607095
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Coxa vara, Bowing of the legs, Bowing of the arm, Platyspondyly, Osteoporosi... OMIM:619131
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Kyphosis, Decreased calvarial ossification, Platyspondyly, Scoliosis, Short ... OMIM:259440
Hand-Foot-Genital Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Short 1st metacarpal, Synostosis ... ORPHA:2438
Cri-Du-Chat Syndrome
Microretrognathia, Short neck, Syndactyly, Scoliosis, Single transverse palmar crease, Pes planus... OMIM:123450
Multiple Endocrine Neoplasia Type 2
Kyphoscoliosis, Medullary thyroid carcinoma, Parathyroid adenoma, Elevated circulating parathyroi... ORPHA:653
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Platy... OMIM:300863
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment OMIM:614224
Second Metatarsal-Metacarpal Syndrome
Abnormal metacarpal morphology, Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Osteopenia, Generalized osteoporosis, Hypercalcemia, Infantile hypercalcemia ORPHA:99879
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Lumbar hyperlordosis, Metaphyseal spurs, Dysplastic iliac wing, Narrow greate... OMIM:608728
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Pelger-Huet Anomaly
Kyphosis, Neutropenia, Pes cavus, Polydactyly, Upper limb undergrowth, Short 3rd metacarpal, Hypo... OMIM:169400
Bruck Syndrome
Recurrent fractures, Joint stiffness, Kyphosis, Talipes equinovarus, Platyspondyly, Scoliosis, Os... ORPHA:2771
Zollinger-Ellison Syndrome
Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary adenoma, Elevated c... ORPHA:913
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... ORPHA:85167
Brachydactyly, Type B1
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Syndact... OMIM:113000
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Optic atrophy, Hypocalcemia OMIM:618476
Codas Syndrome
Coronal cleft vertebrae, Short metacarpal, Congenital hip dislocation, Brachydactyly, Scoliosis, ... ORPHA:1458
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Sea-blue histiocytosi... OMIM:230600
Kenny-Caffey Syndrome, Type 1
Calvarial osteosclerosis, Hypomagnesemia, Hypocalcemia, Decreased skull ossification OMIM:244460
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Short neck, Platyspondyly, Rhizomelia, Abnormal epiphysis morphology, Bowing of the... ORPHA:93267
Hypophosphatemic Bone Disease
Bowing of the legs, Osteomalacia, Rickets OMIM:146350
Hypocalcemic Vitamin D-Dependent Rickets
Secondary hyperparathyroidism, Delayed epiphyseal ossification, Sparse bone trabeculae, Subperios... ORPHA:289157
Kniest Dysplasia
Flexion contracture of finger, Short neck, Platyspondyly, Abnormal bone structure, Dumbbell-shape... ORPHA:485
Proteus Syndrome
Spinal canal stenosis, Kyphoscoliosis, Hypertrophy of skin of soles, Calvarial hyperostosis, Sple... OMIM:176920
Cantu Syndrome
Broad first metatarsal, Metaphyseal widening, Short neck, Platyspondyly, Osteoporosis, Short hall... OMIM:239850
Geroderma Osteodysplastica
Recurrent fractures, Beaking of vertebral bodies, Abnormal bone ossification, Platyspondyly, Bico... ORPHA:2078
Brachydactyly Type A1
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... ORPHA:93388
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Platyspondyly, Micromelia, Short palm, Limitation of joint mobility ORPHA:168555
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elbow ankylosis, Decreased circulating androgen concentration, Craniosynostosis, Decreased circul... ORPHA:95699
Spondyloepiphyseal Dysplasia, Kimberley Type
Genu valgum, Platyspondyly, Flat capital femoral epiphysis, Genu varum OMIM:608361
Dent Disease 1
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregul... OMIM:300009
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Synostoses, Tarsal, Carpal, And Digital
Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Met... OMIM:186400
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metacarpal heads, Osteoarthritis, Flattened metatarsal heads, Platyspondyly, Hip osteoa... OMIM:271600
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Upper limb phocomelia, Radial club hand, Short humerus, Hypoplasia of the ulna, Abn... ORPHA:2878
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Short greater sciatic notch, Anterior beaking of lumbar vertebrae, Platyspondyly, Coxa valga OMIM:271620
Osteogenesis Imperfecta, Type Xviii
Recurrent fractures, Femoral bowing, Micrognathia, Biconcave vertebral bodies, Thin bony cortex, ... OMIM:617952
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Hypercalcemia ORPHA:2668
Retinitis Pigmentosa 50
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... OMIM:613194
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Osteopenia, Short neck, Hyp... OMIM:266920
Nephropathy, Deafness, And Hyperparathyroidism
Hyperparathyroidism, Parathyroid hyperplasia OMIM:256120
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Martsolf Syndrome 1
Finger joint hypermobility, Broad fingertip, Talipes equinovarus, Slender ulna, Tracheomalacia, M... OMIM:212720
Osteogenesis Imperfecta, Type Xiii
Dislocated radial head, Kyphoscoliosis, Increased bone mineral density, Arachnodactyly, Platyspon... OMIM:614856
Acrodysostosis With Multiple Hormone Resistance
Spinal canal stenosis, Elevated calcitonin, Short toe, Hypoplastic vertebral bodies, Cryptorchidi... ORPHA:280651
Autosomal Dominant Brachyolmia
Abnormal metaphysis morphology, Kyphoscoliosis, Platyspondyly, Increased vertebral height ORPHA:93304
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Zechi-Ceide Syndrome
Short distal phalanx of finger, Short metatarsal, Sandal gap, Long foot ORPHA:217017
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Bowing of the legs, Kyphoscoliosis, Platyspondyly, Brachydactyly, ... OMIM:612847
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Micromelia, Short neck, Platyspondyly, Anterior bowing of long bones,... OMIM:255800
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Calvarial Doughnut Lesions With Bone Fragility
Recurrent fractures, Osteopenia, Femoral bowing, Platyspondyly, Scoliosis, Osteoporosis OMIM:126550
Blomstrand Lethal Chondrodysplasia
Distal shortening of limbs, Metaphyseal cupping, Increased bone mineral density, Short ribs, Micr... ORPHA:50945
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Reduced bone mineral density, Peripheral ... ORPHA:891
Odontochondrodysplasia
Cone-shaped epiphysis, Platyspondyly, Micromelia, Scoliosis, Square pelvis bone, Patent ductus ar... ORPHA:166272
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Metaphyseal irregularity, Clinodactyly of the 5th finger, Carpal bone aplas... OMIM:610797
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cone-shaped epiphyses of the phalanges of the hand, Talipes equinovarus, Small hand, Platyspondyl... ORPHA:85172
Codas Syndrome
Metaphyseal dysplasia, Coronal cleft vertebrae, Delayed ossification of carpal bones, Generalized... OMIM:600373
Pitt-Hopkins Syndrome
Short fifth metatarsal, Overlapping toe, Cryptorchidism, Prominent fingertip pads, Short fourth m... OMIM:610954
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis ORPHA:2786
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Short toe, Short phalanx of finger, Hypoplastic nipples, Short metatarsal, Short metacarpal OMIM:211370
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypoalbuminemia ORPHA:398063
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Osteopenia, Falc... OMIM:601813
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Dysosteosclerosis
Irregular vertebral endplates, Recurrent fractures, Hypoplastic vertebral bodies, Increased bone ... ORPHA:1782
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... OMIM:618395
Bruck Syndrome 2
Talipes equinovarus, Flexion contracture, Osteopenia, Femoral bowing, Platyspondyly, Elbow flexio... OMIM:609220
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... OMIM:617604
Urban-Rogers-Meyer Syndrome
Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Micrognathia, Camptodactyly of fin... ORPHA:3409
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Kyphosis, Large elbow, Constricted iliac wing,... OMIM:253000
Symphalangism, Proximal, 1A
Carpal synostosis, Proximal symphalangism of hands, Aplasia/Hypoplasia of the middle phalanges of... OMIM:185800
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Short neck, Abnormality of the ankles, Hypoplasia of the capital femoral epip... ORPHA:239
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Kyphosis, Constricted iliac wing, Metaphyseal ... OMIM:253010
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Decreased calvarial ossification, Hemi... OMIM:276820
X-Linked Hypophosphatemia
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, En... ORPHA:89936
Rothmund-Thomson Syndrome Type 1
Cryptorchidism, Metaphyseal sclerosis, Anemia, Osteopenia, Plantar hyperkeratosis, Metaphyseal st... ORPHA:221008
Angel-Shaped Phalango-Epiphyseal Dysplasia
Short 1st metacarpal, Hip osteoarthritis, Short middle phalanx of finger, Abnormal epiphysis morp... ORPHA:63442
Exudative Vitreoretinopathy 1
Recurrent fractures, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachm... OMIM:133780
Osteogenesis Imperfecta, Type Xvi
Recurrent fractures, Microretrognathia, Osteopenia, Decreased calvarial ossification, Platyspondy... OMIM:616229
Geleophysic Dysplasia 1
Joint stiffness, Coxa valga, Joint contracture of the hand, Osteopenia, Camptodactyly of finger, ... OMIM:231050
Acrootoocular Syndrome
Short toe, Kyphoscoliosis, Decreased palmar creases, Abnormal finger flexion creases, Palmar hype... ORPHA:2980
Coffin-Lowry Syndrome
Short distal phalanx of finger, Kyphosis, Short metacarpal, Broad finger, Brachydactyly, Tapered ... ORPHA:192
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Joint stiffness, Tibial bowing, Flexion contracture, Absent ossification of capital femoral epiph... OMIM:245160
Florid Cemento-Osseous Dysplasia
Abnormal bone structure, Multiple bony cystic lesions, Mandibular osteomyelitis, Abnormal trabecu... ORPHA:83451
Spondylometaphyseal Dysplasia, Axial
Coxa vara, Narrow greater sciatic notch, Splenomegaly, Platyspondyly, Scoliosis, Short femoral ne... OMIM:602271
Rothmund-Thomson Syndrome Type 2
Metaphyseal sclerosis, Osteopenia, Aplastic anemia, Leukemia, Abnormality of the radial head, Pla... ORPHA:221016
Osteogenesis Imperfecta, Type Xvii
Platyspondyly, Scoliosis, Osteoporosis, Thin metacarpal cortices, Vertebral compression fracture OMIM:616507
Schneckenbecken Dysplasia
Metaphyseal irregularity, Advanced ossification of carpal bones, Narrow vertebral interpedicular ... OMIM:269250
Femoral-Facial Syndrome
Short fourth metatarsal, Hemivertebrae, Radioulnar synostosis, Short fifth metatarsal, Talipes eq... OMIM:134780
Opsismodysplasia
Metaphyseal cupping, Hypoplastic vertebral bodies, Short metacarpal, Short neck, Hypoplastic pubi... OMIM:258480
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Short neck, Cubit... ORPHA:2183
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Short metacarpal, Short femur, Femoral bowing,... OMIM:211350
Dysosteosclerosis
Short sternum, Osteopenia, Platyspondyly, Sclerotic scapulae, Progressive bowing of long bones, S... OMIM:224300
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Osteoarthritis, Abnormal epiphysis morphology, Micromelia ORPHA:93283
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Coxa vara, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound of bone in central and posterior por... OMIM:313400
Infantile Systemic Hyalinosis
Recurrent fractures, Joint stiffness, Osteopenia, Camptodactyly of finger, Short neck, Osteomalac... ORPHA:2176
Dermatosparaxis Ehlers-Danlos Syndrome
Joint stiffness, Coxa vara, Coxa valga, Osteopenia, Micrognathia, Osteomalacia, Osteoporosis, Ava... ORPHA:1901
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of the endocrine system, Craniosynostosis, Micrognathia, Brachydactyly, Pes planus, H... ORPHA:166035
Camptodactyly Syndrome, Guadalajara, Type I
Horizontal sacrum, Twelfth rib hypoplasia, Absent frontal sinuses, Sacral dimple, Hallux valgus, ... OMIM:211910
Spondylocamptodactyly Syndrome
Camptodactyly of finger, Platyspondyly, Scoliosis ORPHA:3180
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Carpal synostosis, Advanced ossification of carpal bones, Epiphyseal dysplasia, Talipes equinovar... OMIM:615349
Bardet-Biedl Syndrome 17
Mesoaxial hand polydactyly, Short fourth metatarsal, Brachydactyly, Polydactyly, Postaxial hand p... OMIM:615994
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Kyphoscoliosis, Decreased response to growth hormone stimulation test, Micrognathia, Short phalan... OMIM:264475
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short distal phalanx of finger, Short toe, Camptodactyly of finger, Tapered finger, Short foot, S... ORPHA:3201
Pachydermoperiostosis
Osteomyelitis, Elevated circulating growth hormone concentration, Splenomegaly, Small hand, Anemi... ORPHA:2796
2Q37 Microdeletion Syndrome
Clinodactyly of the 5th finger, Short metacarpal, Supernumerary nipple, Tracheomalacia, Small han... ORPHA:1001
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Decreased circulating parathyroid hormone level, Bowing of the legs, Hypophosphatemic rickets, Re... ORPHA:157215
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density OMIM:231095
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Enlarged epiphyses, Epiphyseal dysplasia, Platyspondyly, Premature osteoarthritis OMIM:184840
Atelosteogenesis Type I
Talipes equinovarus, Abnormal ossification involving the femoral head and neck, Short femur, Micr... ORPHA:1190
Tibial Hemimelia
Radial club hand, Hemivertebrae, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallu... ORPHA:93322
Developmental And Epileptic Encephalopathy 95
Short distal phalanx of finger, Multiple joint contractures, Clinodactyly of the 5th finger, Shor... OMIM:618143
Rare Circulatory System Disease
Abnormality of finger, Spinal rigidity, Abnormal metatarsal morphology, Decreased finger mobility... ORPHA:98028
Cantú Syndrome
Short distal phalanx of finger, Deep plantar creases, Broad hallux phalanx, Short neck, Platyspon... ORPHA:1517
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Reduced bone mineral density, Short neck, Platyspondyly, Scolios... ORPHA:582
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Pathologic fracture, Abnormal foot morphology, Increased susce... OMIM:146300
Frontometaphyseal Dysplasia 2
Hip contracture, Dislocated radial head, Ulnar deviation of the hand, Talipes equinovarus, Congen... OMIM:617137
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Dislocated radial head, Epiphyseal dysplasia, Metaphyseal dysplasia, Delayed ossification of carp... OMIM:617425
Abnormal Hair, Joint Laxity, And Developmental Delay
Short fifth metatarsal, 2-3 toe syndactyly, Clinodactyly of the 5th toe, Short fourth metatarsal,... OMIM:261990
Moebius Syndrome
Talipes equinovarus, Micrognathia, Hypogonadotropic hypogonadism, Short neck, Brachydactyly, Shor... OMIM:157900
Spondyloepiphyseal Dysplasia Congenita
Coxa vara, Kyphosis, Lumbar hyperlordosis, Talipes equinovarus, Atlantoaxial instability, Delayed... OMIM:183900
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Laryngotracheomalacia, Metaphyseal irregularity, Coxa vara, Lumbar hyperlordosis, Delayed ossific... OMIM:271510
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Autosomal Recessive Stickler Syndrome
Irregular vertebral endplates, Epiphyseal dysplasia, Micrognathia, Platyspondyly, Genu valgum, Ab... ORPHA:250984
Paget Disease Of Bone 3