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Gene: Tmem53 MGI:1916027

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

transmembrane protein 53

Synonyms:

1700012A05Rik, 1110038M16Rik, 1500001P22Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Tmem53 mutations

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

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

Human diseases associated with Tmem53 (1 diseases)
Human diseases predicted to be associated with Tmem53 (860 diseases)

The table below shows human diseases associated to Tmem53 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Craniotubular Dysplasia, Ikegawa Type		Metaphyseal dysplasia, Thin bony cortex, Epicanthus, Short stature, Hypertelorism, Increased inte...	OMIM:619727

The table below shows human diseases predicted to be associated to Tmem53 by phenotypic similarity.

Disease	Matching phenotypes	Source
Bartter Syndrome	Short stature	ORPHA:112
Intellectual Developmental Disorder, X-Linked 84	Short stature	OMIM:300505
Short Stature, Idiopathic, X-Linked	Short stature	OMIM:300582
Mseleni Joint Disease	Severe short stature	OMIM:613342
Pygmy	Short stature	OMIM:265850
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature	Intrauterine growth retardation, Short stature	OMIM:135950
22q11.2 distal deletion syndrome	Short stature	DECIPHER:72
Hyaluronidase Deficiency	Short stature	ORPHA:67041
Growth Hormone Insensitivity, Partial	Short stature	OMIM:604271
Seckel Syndrome 6	Short stature	OMIM:614728
Microcephaly 11, Primary, Autosomal Recessive	Short stature	OMIM:615414
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Brachyolmia Type 1, Hobaek Type	Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph...	OMIM:271530
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Short stat...	OMIM:609324
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Severe short stature, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, M...	OMIM:609052
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal car...	ORPHA:93351
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Talipes, Abnormality of the vertebr...	ORPHA:1856
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Short stature, Bowing of the legs, Reduced bone mineral density, Platyspon...	OMIM:617974
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Abnormality of the knee, Short stature, Restricted large joint movement, Disproportionate short-t...	ORPHA:163665
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ...	ORPHA:99642
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P...	OMIM:618728
Brachydactyly Type C	Stippling of the epiphysis of the distal phalanx of the thumb, Short stature, Short metatarsal, S...	ORPHA:93384
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Capitate-hamat...	OMIM:271650
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Decreased hip abduction, Lumbar hyperlordosis, Flat capital femoral epiphysis, Disproportionate s...	OMIM:609223
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost...	OMIM:251450
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Severe short stature, Wid...	OMIM:619598
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Severe short stature, Protrusio acetabuli, Abnormal femoral head morphology, Short to...	ORPHA:2619
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome	Intrauterine growth retardation, Short stature	ORPHA:436144
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Narrow...	OMIM:156530
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Tapered finger, Flat capital femoral epiphysis, Moderately short stature, Flexion con...	ORPHA:157965
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Short stature, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Joint stiffness, Vertebr...	OMIM:616583
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde...	ORPHA:1159
Ruvalcaba Syndrome	Short metacarpal, Short stature, Micromelia, Kyphosis, Limited elbow extension, Small hand, Short...	OMIM:180870
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract...	ORPHA:93307
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Short stature, Kyphoscoliosis, Lower limb asymmetry, Osteoart...	ORPHA:85198
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s...	OMIM:600121
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short...	OMIM:271630
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Hyperextensibility at elbow, Pes planus, Sho...	OMIM:610967
Spondyloepiphyseal Dysplasia, Kimberley Type	Proportionate short stature, Flat capital femoral epiphysis, Genu valgum, Platyspondyly, Genu varum	OMIM:608361
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ...	ORPHA:166011
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Severe short stature, ...	OMIM:313420
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific...	ORPHA:1426
Pseudoachondroplasia	Genu recurvatum, Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Os...	OMIM:177170
Osteoarthritis With Mild Chondrodysplasia	Heberden's node, Short stature, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular v...	OMIM:604864
Smith-Mccort Dysplasia 2	Short neck, Short metatarsal, Short phalanx of finger, Short metacarpal, Short stature, Hyperlord...	OMIM:615222
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Short neck, Thoracic kyphosis, Abnormal bone ossification, Abnormal femoral neck/he...	ORPHA:163649
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat...	ORPHA:457395
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2...	OMIM:123150
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Ptosis, Short metacarpal, Short fourth metatarsal, Overlapping toe, Short stature, Cr...	OMIM:616723
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short stature, Short middle phalanx of the 2nd finger, Multiple small vert...	OMIM:156510
Bruck Syndrome 1	Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp...	OMIM:259450
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Chromosome 8Q22.1 Duplication Syndrome	Genu recurvatum, Short metatarsal, Short palm, Short phalanx of finger, Broad metacarpals, Short ...	OMIM:151200
Spondylometaphyseal Dysplasia, A4 Type	Severe short stature, Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Short palm	ORPHA:168555
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Short metacarpal, Short stature, Avascular necrosis of the capital femoral epiphysis,...	OMIM:190351
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Irregular vertebral endplates, Short phalanx of finger, Dislocated radial head, Joint...	OMIM:612350
Pyle Disease	Metaphyseal dysplasia, Metaphyseal widening, Hypoplastic frontal sinuses, Reduced bone mineral de...	OMIM:265900
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Severe short stature, Pes planus, Ovoid vertebral bodies,...	OMIM:132400
Brachydactyly Type E	Short metacarpal, Short stature, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short me...	ORPHA:93387
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met...	OMIM:184260
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard...	ORPHA:168549
Spondyloepiphyseal Dysplasia, Kimberley Type	Proportionate short stature, Micromelia, Osteoarthritis, Platyspondyly, Abnormal epiphysis morpho...	ORPHA:93283
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Abnorm...	ORPHA:94068
Progressive Pseudorheumatoid Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos...	OMIM:208230
Autosomal Dominant Brachyolmia	Short stature, Kyphoscoliosis, Increased vertebral height, Platyspondyly, Abnormal metaphysis mor...	ORPHA:93304
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Rhizomelia, Femoral bowing, Platyspondyly, Short 5th metacarpal, Thoracic kyphosis, W...	OMIM:619638
Bruck Syndrome	Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor...	ORPHA:2771
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O...	OMIM:608728
Saul-Wilson Syndrome	Enlarged epiphyses, Micrognathia, Short metatarsal, Irregular vertebral endplates, Overtubulated ...	OMIM:618150
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me...	OMIM:602875
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Irregularity of vertebral bodies, Short stature, Hypoplasia of the odontoid process, Small hand, ...	ORPHA:85172
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Synophrys, Short met...	ORPHA:1278
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Halberd-shaped pelvi...	OMIM:184252
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Severe short stature, Hyperlordosis, Hypop...	OMIM:184250
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased calvarial ossification, Pla...	OMIM:259440
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,...	OMIM:602557
Spondylometaphyseal Dysplasia, Corner Fracture Type	Short stature, Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Hyperconvex...	OMIM:184255
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Short stature, Abnor...	ORPHA:950
Atelosteogenesis Type I	Joint dislocation, Telecanthus, Short femur, Rhizomelia, Micrognathia, Hypertelorism, Abnormal os...	ORPHA:1190
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Hall-Riggs Syndrome	Metaphyseal dysplasia, Epicanthus, Hypertelorism, Kyphosis, Osteoporosis, Irregular vertebral end...	OMIM:234250
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Pes planus, Short stature, Tapered finger, Short neck, Mult...	OMIM:618395
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Lumbar h...	OMIM:256050
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo...	OMIM:223800
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Short stature, ...	ORPHA:319195
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Hypertelorism, Hypo...	ORPHA:93333
Acromesomelic Dysplasia 4	Thoracic scoliosis, Synophrys, Short metatarsal, Short phalanx of finger, Genu varum, Short metac...	OMIM:619636
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metatarsal heads, Short stature, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Fla...	OMIM:271600
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Highly arched eyebrow, Micrognathia, Postnatal growth retardation, Wide a...	OMIM:619135
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Micrognathia, Hypertelorism, S...	ORPHA:93267
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific...	ORPHA:93360
Bruck Syndrome 2	Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Knee flexion contractu...	OMIM:609220
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati...	OMIM:608940
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Hypertelorism, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal...	OMIM:618961
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Pseudopseudohypoparathyroidism	Short stature, Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short ...	ORPHA:79445
Osseous Heteroplasia, Progressive	Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue	OMIM:166350
Osteogenesis Imperfecta, Type Viii	Osteopenia, Multiple prenatal fractures, Tibial bowing, Femoral bowing, Decreased skull ossificat...	OMIM:610915
Pde4D Haploinsufficiency Syndrome	Micrognathia, Short metatarsal, Hypotelorism, Irregular vertebral endplates, Bilateral coxa valga...	ORPHA:439822
Adams-Oliver Syndrome 3	Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho...	OMIM:614814
Anauxetic Dysplasia 1	Short neck, Thoracic kyphosis, Short palm, Joint laxity, Lumbar hyperlordosis, Rhizomelia, Hypert...	OMIM:607095
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Hypertelorism, Hypo...	ORPHA:93346
Osteogenesis Imperfecta, Type Xxi	Pes planus, Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Platysp...	OMIM:619131
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Short stature, Proximal femoral metaphyseal irregularity, Disproportionate short-trun...	OMIM:602271
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me...	OMIM:602111
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Short stature, Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, ...	OMIM:612847
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Micrognathia, Shor...	OMIM:255800
Metaphyseal Acroscyphodysplasia	Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Sev...	ORPHA:1240
Jackson-Weiss Syndrome	Broad hallux phalanx, Toe syndactyly, Hypertelorism, Short metatarsal, 2-3 toe syndactyly, Sympha...	ORPHA:1540
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga	OMIM:271620
Smith-Mccort Dysplasia 1	Short neck, Short phalanx of finger, Genu varum, Short metacarpal, Iliac crest serration, Short s...	OMIM:607326
Chondrodysplasia With Joint Dislocations, Gpapp Type	Micrognathia, Knee dislocation, Irregular epiphyses of the metacarpals, Short metacarpal, Hitchhi...	OMIM:614078
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Short stature, Hyper...	OMIM:226980
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl...	OMIM:601356
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Metaphyse...	OMIM:300863
Atelosteogenesis, Type I	Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia...	OMIM:108720
Kniest Dysplasia	Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal ...	OMIM:156550
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial...	ORPHA:1427
Pseudopseudohypoparathyroidism	Short metacarpal, Short stature, Short neck, Short metatarsal, Osteoporosis, Brachydactyly	OMIM:612463
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ...	ORPHA:166002
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Lacrimal duct stenosis, Hypertelorism, Short neck, Short metatarsal...	OMIM:613328
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Severe short st...	OMIM:231070
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, Hyperlordosis, Kyphosis, Dispr...	ORPHA:40
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab...	ORPHA:429
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Postnatal growth retardation...	OMIM:313400
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh...	OMIM:112450
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Wide anteri...	ORPHA:1860
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra...	OMIM:611717
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Tracheobronchomalacia, Short phalanx of ...	ORPHA:56304
Eiken Syndrome	Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S...	ORPHA:79106
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Hypertelorism, Dela...	ORPHA:166016
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat...	OMIM:147891
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Short stature, Hypertelorism, Limitation of joint mobility, Upper limb undergrowth, Short foot, T...	ORPHA:166277
Osteoglophonic Dysplasia	Osteopenia, Short neck, Short metatarsal, Short palm, Shallow orbits, Short phalanx of finger, Ps...	OMIM:166250
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Short stature, Premature osteoarthritis, Coxa vara, Genu ...	OMIM:607078
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Telecanthus, Short femur, Fractured radius, Decreased fibular diameter, Micrognathia,...	OMIM:616897
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,...	OMIM:118651
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Spinal canal stenosis,...	OMIM:614613
Pseudodiastrophic Dysplasia	Rhizomelia, Phalangeal dislocation, Elbow dislocation, Platyspondyly, Talipes equinovarus, Scoliosis	ORPHA:85174
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Broad eyebrow, Short metacarpal, Severe short stature, Joint hypermo...	OMIM:618853
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic...	ORPHA:93316
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp...	OMIM:300232
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Abnormal bone ossification, H...	ORPHA:93315
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Wide cranial sutures, Short stature, Recurrent fractures, Hypertel...	OMIM:616294
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Osteopenia, Bowing of the long bones, Microretrognathia, Rhizomelia, Short sta...	OMIM:616229
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polydactyly, Telecanthus, S...	OMIM:617102
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short stature, Short metatarsal, Type E brachydactyly, Short 4th metacarpal	OMIM:113301
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Enlarged joints, Short stature, Lumbar hyperlordosis, Large tarsal bones, M...	OMIM:215150
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology	OMIM:269630
Desbuquois Dysplasia 2	Short neck, Metaphyseal widening, Synophrys, Knee dislocation, Short phalanx of finger, Genu varu...	OMIM:615777
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Absent ossification of calvaria, Mult...	OMIM:166210
Ollier Disease	Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis...	ORPHA:296
Mueller-Weiss Syndrome	Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone...	ORPHA:566943
Odontochondrodysplasia	Bowing of the long bones, Short stature, Micromelia, Coxa valga, Cone-shaped epiphysis, Joint hyp...	ORPHA:166272
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, Short metatarsal, Narrow foot, Tibial bowing, Tarsometatarsal synostosi...	OMIM:600383
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Short stature, Recurrent fract...	OMIM:614856
Monosomy 5P	Microretrognathia, Finger syndactyly, Epicanthus, Short stature, Recurrent fractures, Hypertelori...	ORPHA:281
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Neonatal short-limb short stature, Severe limb shortening, Radial bowing,...	OMIM:151210
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Short stature, Micrognathia, Genu valgum, Joint hyperflexibility, Irregular...	ORPHA:250984
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Brachydactyly, Type E2	Short metacarpal, Short metatarsal, Short stature, Brachydactyly	OMIM:613382
Femoral-Facial Syndrome	Short femur, Short stature, Micrognathia, Abnormal sacrum morphology, Abnormal fibula morphology,...	ORPHA:1988
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Short stature, Micromelia, Short neck, Wide distal femoral metaphysis, Pos...	OMIM:613320
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Pes planus, Short metacarpal, Ivory epiphyses of the distal phalanges of the hand, Sw...	OMIM:190350
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Hyperte...	OMIM:605282
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Cone-shaped epiphysis, Platyspondyly, Osteoporosis, Short stature	ORPHA:71267
Geroderma Osteodysplastica	Beaking of vertebral bodies, Pes planus, Severe short stature, Recurrent fractures, Talipes, Hip ...	ORPHA:2078
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Short stature, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduce...	OMIM:166220
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Short stature, Recurrent fractures, Hy...	ORPHA:1782
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Short stature, Camptodactyly of finger, Sparse eyelashes, Micrognathia, Avascul...	ORPHA:77258
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Short stature, Micro...	OMIM:613848
Pseudodiastrophic Dysplasia	Severe short stature, Rhizomelia, Phalangeal dislocation, Lumbar hyperlordosis, Micrognathia, Elb...	OMIM:264180
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short stature, Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelv...	ORPHA:2370
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa...	OMIM:613330
Satoyoshi Syndrome	Pes planus, Short metacarpal, Short stature, Short metatarsal, Osteolytic defects of the phalange...	OMIM:600705
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Short stature, Flat capit...	OMIM:226900
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Genu valgum	OMIM:184095
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of...	ORPHA:239
Acrocephalopolydactyly	Epicanthus, Genu recurvatum, Hypertelorism, Short neck, Short long bone, Limb undergrowth, Premat...	ORPHA:221054
Acrodysostosis 1 With Or Without Hormone Resistance	Mild postnatal growth retardation, Neonatal epiphyseal stippling, Short metatarsal, Hypoplastic v...	OMIM:101800
Rubinstein-Taybi Syndrome 2	Syndactyly, Epicanthus, Broad hallux, Short stature, Highly arched eyebrow, Micrognathia, Short f...	OMIM:613684
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Thanatophoric Dysplasia	Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibili...	ORPHA:2655
Cantu Syndrome	Epicanthus, Broad hallux, Ovoid vertebral bodies, Short hallux, Coxa valga, Short neck, Curly eye...	OMIM:239850
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,...	OMIM:609945
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Enlarged joints, Short stature, Lumbar hyperlordosis, Bowing of the legs, Disproportionate short-...	ORPHA:156728
Brachyolmia Type 2	Short stature	OMIM:613678
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Severe short stature, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyl...	OMIM:126550
Spondylocamptodactyly Syndrome	Platyspondyly, Camptodactyly of finger, Scoliosis	ORPHA:3180
Langer Mesomelic Dysplasia	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Aplasia/...	ORPHA:2632
Astley-Kendall Dysplasia	Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia	ORPHA:85175
Rhizomelic Chondrodysplasia Punctata	Epicanthus, Rhizomelia, Short stature, Limitation of joint mobility, Growth delay, Epiphyseal sti...	ORPHA:177
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Lumbar int...	OMIM:271510
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate...	OMIM:228520
Polydactyly, Postaxial, Type A7	Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous...	OMIM:617642
Van Maldergem Syndrome 1	Osteopenia, Short fourth metatarsal, Micrognathia, Cutaneous finger syndactyly, Joint laxity, Hyp...	OMIM:601390
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Enlarged joints, Short stature, Hypertelorism, Delayed epiphyseal ossification, Genu valgum, Cuta...	ORPHA:166024
Metatropic Dysplasia	Severe short stature, Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromeli...	ORPHA:2635
Tetrasomy X	Epicanthus, Hypertelorism, Upslanted palpebral fissure, Joint hyperflexibility, Radioulnar synost...	ORPHA:9
Schneckenbecken Dysplasia	Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i...	OMIM:269250
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra...	OMIM:224300
Hall-Riggs Syndrome	Epicanthus, Short stature, Joint stiffness, Hypertelorism, Platyspondyly, Abnormal epiphysis morp...	ORPHA:2107
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Talipes, Micromelia, Joint st...	ORPHA:2249
Terminal Osseous Dysplasia	Syndactyly, Ptosis, Multiple joint contractures, Epicanthus, Camptodactyly of finger, Telecanthus...	OMIM:300244
Marinesco-Sjogren Syndrome	Pes planus, Short metacarpal, Short stature, Coxa valga, Kyphosis, Flexion contracture, Short met...	OMIM:248800
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced ...	ORPHA:970
Cohen Syndrome	Pes planus, Short metacarpal, Thoracic scoliosis, Short stature, Lumbar hyperlordosis, Thick eyeb...	OMIM:216550
Brachydactyly, Type A1	Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi...	OMIM:112500
Achondroplasia	Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great...	OMIM:100800
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Hypertelorism, Short...	OMIM:614813
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Multip...	OMIM:619795
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Short stature, Micromelia, Hy...	ORPHA:63446
Zechi-Ceide Syndrome	Sandal gap, Short metatarsal, Narrow palpebral fissure, Blepharophimosis, Long foot, Short palpeb...	OMIM:612916
Catel-Manzke Syndrome	Short stature, Camptodactyly of finger, Highly arched eyebrow, Metatarsus valgus, Micrognathia, J...	ORPHA:1388
Gm1-Gangliosidosis, Type Iii	Short stature, Kyphosis, Flared iliac wing, Platyspondyly, Anterior beaking of lumbar vertebrae, ...	OMIM:230650
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Epicanthus, Short stature, Hypertelorism, Kyphosis, Small hand, Hip dislocation, Short foot, Tali...	OMIM:300434
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli...	ORPHA:440354
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Enlarged epiphyses, Premature osteoarthritis, Platyspondyly	OMIM:184840
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ...	OMIM:602080
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short stature, Short neck, Short toe, Short metatarsal, Osteoporosis, Subcutane...	OMIM:103580
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Lumbar hyperlordosis, Short stature, Generalized joint laxity, Patellar hyp...	OMIM:609325
Frontometaphyseal Dysplasia	Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Spina bifida occult...	ORPHA:1826
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th...	ORPHA:2502
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Short stature, Highly arched eyebrow, Short toe, Upsla...	OMIM:600430
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ...	ORPHA:85184
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Osteoporosis, Short stature	ORPHA:2786
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph...	OMIM:184100
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Epicanthus, Radial bowing, Postaxial polydactyly, Micromelia, Micrognathia, Missing ribs, Ulnar b...	OMIM:617866
Diastrophic Dysplasia	Joint dislocation, Proximal placement of thumb, Micromelia, Micrognathia, Symphalangism affecting...	ORPHA:628
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Knee dislocation, Shallow orbits, Spina bifida occulta, Hypo...	OMIM:150250
Thoracomelic Dysplasia	Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Joint hype...	ORPHA:1803
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor...	ORPHA:1263
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Short stature, Kyphosco...	OMIM:615349
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal phalanx of finger, Brachydactyly	ORPHA:2787
Lowry-Wood Syndrome	Epiphyseal dysplasia, Short stature, Joint stiffness, Elbow dislocation, Coxa vara, Irregular epi...	ORPHA:1824
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Severe short stature, Bowed humerus, Lumbar hyperlordosis, Kyphoscoliosis,...	OMIM:184253
Van Maldergem Syndrome 2	Osteopenia, Short fourth metatarsal, Micrognathia, Cutaneous syndactyly of toes, Cutaneous finger...	OMIM:615546
Distal Deletion 10Q	Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Hypotelorism, Clinodactyly of the 5...	ORPHA:96148
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Metaphyseal dysplasia, Eosinophilia, Kyphoscoliosis, Coxa valga, Hypertelor...	OMIM:617425
Mucopolysaccharidosis, Type Iva	Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Anterior beaking of lu...	OMIM:253000
Hypophosphatasia, Infantile	Craniosynostosis, Bowing of the legs, Micromelia, Vertebral clefting, Increased susceptibility to...	OMIM:241500
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:113400
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Hypotelorism, Epiphyseal stipplin...	ORPHA:1952
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Andersen Cardiodysrhythmic Periodic Paralysis	Joint laxity, Short metacarpal, Toe syndactyly, Short stature, Short palpebral fissure, Micrognat...	OMIM:170390
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ...	ORPHA:337
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Brachydactyly, Type E1	Short metacarpal, Moderately short stature, Short metatarsal, Short clavicles, Type E brachydacty...	OMIM:113300
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Tibial...	OMIM:304120
Epiphyseal Dysplasia, Multiple, 6	Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth...	OMIM:614135
Brachyolmia, Maroteaux Type	Platyspondyly, Short stature, Abnormal form of the vertebral bodies, Scoliosis	ORPHA:93302
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Mucopolysaccharidosis Type 4	Joint dislocation, Bowing of the long bones, Short stature, Coxa valga, Short neck, Hyperlordosis...	ORPHA:582
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Disproportionate short stature, Flattened epiphysis, Tibi...	ORPHA:93356
Weismann-Netter Syndrome	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h...	ORPHA:3344
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Micrognathia, Short neck, Multiple joint dislocation, Knee dislocation, Shoulder disl...	OMIM:245600
Greenberg Dysplasia	Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ...	OMIM:215140
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Abnormality of t...	ORPHA:3098
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen...	OMIM:300106
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ...	OMIM:259420
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Hypoplasia of...	OMIM:609813
Spondylo-Ocular Syndrome	Pes planus, Abnormal eyebrow morphology, Abnormal intervertebral disk morphology, Short stature, ...	ORPHA:85194
Stickler Syndrome Type 1	Osteoarthritis, Joint hyperflexibility, Platyspondyly, Proptosis, Abnormal epiphysis morphology, ...	ORPHA:90653
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L...	ORPHA:1423
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Achondroplasia	Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat...	ORPHA:15
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Short neck, Triangular shaped distal phalanges of t...	OMIM:271665
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ...	OMIM:187601
Summitt Syndrome	Finger syndactyly, Prominent metopic ridge, Epicanthus, Camptodactyly of finger, Craniosynostosis...	ORPHA:3210
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris...	OMIM:259600
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Toe syndactyly, Short neck, Elbow flexion contracture, 2-3 toe synda...	OMIM:616809
Brachyolmia Type 3	Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Childhood-onset short-trunk shor...	OMIM:113500
Kyphomelic Dysplasia	Bowing of the long bones, Micromelia, Missing ribs, Micrognathia, Joint stiffness, Disproportiona...	ORPHA:1801
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal widening, Irregular epiph...	OMIM:612813
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi...	OMIM:603546
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Short stature, Abnormal limb bone morphology, Limb undergrowth, A...	ORPHA:2204
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly	OMIM:611263
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing,...	OMIM:620076
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t...	OMIM:183900
Leri Pleonosteosis	Severe short stature, Genu recurvatum, Camptodactyly of finger, Joint stiffness, Elbow dislocatio...	ORPHA:2900
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Short stature, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of...	ORPHA:163966
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Joint laxity, Hyperlordosis, Hypop...	OMIM:253010
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Short fourth metatarsal, Epicanthus, Overlapping toe, Short stature, Kyphosis, Bilateral camptoda...	OMIM:619557
Mesomelic Dysplasia, Kantaputra Type	Short stature, Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, A...	ORPHA:1836
Chst3-Related Skeletal Dysplasia	Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis, Hypertelorism, Highly arched eyebr...	ORPHA:263463
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,...	OMIM:271640
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Fibular hypoplasia, Aplasia/Hyp...	OMIM:612447
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ...	ORPHA:93296
Hypertrichosis Cubiti	Severe short stature, Rhizomelia, Abnormal nasolacrimal system morphology, Micromelia, Abnormal e...	ORPHA:2220
Blomstrand Lethal Chondrodysplasia	Short metacarpal, Bowing of the long bones, Increased bone mineral density, Rhizomelia, Aplastic ...	ORPHA:50945
Laron Syndrome	Severe short stature, Abnormal joint morphology, Short long bone, Limb undergrowth, Delayed menarche	OMIM:262500
Weaver Syndrome	Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing, Prominent fingertip pa...	OMIM:277590
Thanatophoric Dysplasia Type 2	Short stature, Micromelia, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platys...	ORPHA:93274
Combined Oxidative Phosphorylation Deficiency 47	Toe syndactyly, Short neck, Platyspondyly, Cone-shaped epiphyses of the distal phalanges of the h...	OMIM:618958
Coxoauricular Syndrome	Short stature, Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral densi...	ORPHA:1508
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Epicanthus, Ovoid vertebral bodies, Short hallux, Coxa v...	ORPHA:1517
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Short stature, Short neck, Short metatarsal, Osteoporosis, Brachydactyly	OMIM:612462
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Ptosis, Brachydactyly, Severe short stature, Abnormality of the wrist, Abnormal thumb morphology,...	ORPHA:2511
Spondylometaphyseal Dysplasia, Sedaghatian Type	Large posterior fontanelle, Short neck, Delayed epiphyseal ossification, Long fibula, Narrow grea...	OMIM:250220
Brachydactyly Type A1	Hypoplasia of the ulna, Short stature, Short hallux, Short thumb, Short foot, Cone-shaped epiphys...	ORPHA:93388
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Short stature, Tarsal synostosis, Abnormal morp...	ORPHA:2639
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Short stature, Micromelia, Hyperteloris...	ORPHA:1597
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Hypertelorism, Short neck, Dacryocystitis, Patellar hypoplasia, Deeply s...	ORPHA:464288
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac...	ORPHA:90650
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d...	ORPHA:968
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Hypoplasia of the femoral head, Short stature, Thoracolumbar kyphoscoliosi...	OMIM:617396
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Mesomelia, Vertebral segmen...	ORPHA:2631
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Tarsal synostosis, Camptodactyly o...	ORPHA:2633
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Short stature, Recurrent fractures, Kyphoscoliosis, Hip dislocation,...	OMIM:616507
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ...	OMIM:187600
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Split h...	ORPHA:2019
Opsismodysplasia	Short neck, Hypoplastic vertebral bodies, Shallow orbits, Short palm, Short phalanx of finger, Sh...	OMIM:258480
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Mesomelic le...	OMIM:249710
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies	Pes planus, Broad eyebrow, Epicanthus, Overlapping toe, Broad hallux, Sandal gap, Micrognathia, S...	OMIM:617755
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Short metacarpal, Pes planus, Epicanthus, Hypertelorism, Metatarsu...	OMIM:123450
Chromosome 16Q22 Deletion Syndrome	Prominent metopic ridge, Epicanthus, Broad hallux, Highly arched eyebrow, Micrognathia, Postnatal...	OMIM:614541
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t...	ORPHA:2496
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Sever...	ORPHA:85167
Melnick-Needles Syndrome	Craniofacial hyperostosis, Bowing of the long bones, Short stature, Coxa valga, Micrognathia, Hyp...	ORPHA:2484
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of...	ORPHA:2790
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Femoral bowing, Inc...	OMIM:166200
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Hypochondroplasia	Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the e...	OMIM:146000
Grant Syndrome	Joint dislocation, Bowing of the long bones, Short stature, Micrognathia, Large fontanelles, Join...	ORPHA:2097
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Hypertelorism, Postnatal growth retardation, ...	ORPHA:93324
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Absent fifth metatarsal, Postaxial hand polydactyly...	OMIM:176240
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Short stature, Protrusio acetabuli, Recurrent fractures, Kyphoscoliosis...	OMIM:610968
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Short stature, Kyphosis, Reduced bone mineral density, Delayed ossification of carpal bones, Shor...	OMIM:618392
Prieto Syndrome	11 pairs of ribs, Epicanthus, Coxa valga, Hypertelorism, Osteoporosis, Patellar subluxation, Pate...	OMIM:309610
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Short stature, Elbow...	ORPHA:85170
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Multiple joint contractures, Micrognathia, Metaphyseal widening, G...	ORPHA:536471
Sponastrime Dysplasia	Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax...	ORPHA:93357
Zechi-Ceide Syndrome	Sandal gap, Short metatarsal, Narrow palpebral fissure, Long foot, Short palpebral fissure, Short...	ORPHA:217017
Acromicric Dysplasia	Short metacarpal, Severe short stature, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot...	OMIM:102370
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Micrognathia, Short neck, Short metatarsal, Clinodactyly of the 5th finger, Short pha...	OMIM:266920
Acromicric Dysplasia	Abnormal eyebrow morphology, Short metacarpal, Severe short stature, Ovoid vertebral bodies, Join...	ORPHA:969
Stickler Syndrome, Type I	Arthropathy, Arachnodactyly, Micrognathia, Joint stiffness, Kyphosis, Irregular femoral epiphysis...	OMIM:108300
Fibrochondrogenesis 2	Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Pl...	OMIM:614524
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Short stature, Craniosynostosis, Micromelia, Elbow...	ORPHA:93329
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Micrognathia, F...	OMIM:617952
Pentasomy X	Short stature, Camptodactyly of finger, Micrognathia, Hypertelorism, Small hand, Short foot, Upsl...	ORPHA:11
Arthrochalasia Ehlers-Danlos Syndrome	Joint dislocation, Epicanthus, Severe short stature, Coxa valga, Avascular necrosis of the capita...	ORPHA:1899
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Microretrognathia, Hip contracture, Pes planus, Short stature, Kyphoscoliosis, Coxa valga, Microg...	OMIM:618363
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm...	ORPHA:1350
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Symphalangi...	ORPHA:2741
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Marshall Syndrome	Epicanthus, Radial bowing, Short stature, Coxa valga, Hypoplastic ilia, Micrognathia, Ulnar bowin...	OMIM:154780
Craniometadiaphyseal Dysplasia	Osteopenia, Broad long bones, Short stature, Coxa valga, Wide anterior fontanel, Flared metaphysi...	OMIM:269300
Ring Chromosome 6 Syndrome	Epicanthus, Short stature, Hypertelorism, Short neck, Short distal phalanx of finger	ORPHA:1448
Morquio Syndrome C	Platyspondyly, Severe short stature	OMIM:252300
Lethal Congenital Contracture Syndrome Type 1	Short stature, Recurrent fractures, Micrognathia, Hypertelorism, Short neck, Abnormality of the e...	ORPHA:1486
Osteogenesis Imperfecta, Type Vii	Osteopenia, Crumpled long bones, Wide cranial sutures, Rhizomelia, Protrusio acetabuli, Femoral r...	OMIM:610682
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Hao-Fountain Syndrome	Clinodactyly of the 5th finger, Hallux valgus, Large fontanelles, Delayed cranial suture closure	OMIM:616863
Nievergelt Syndrome	Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Mesomelic short s...	OMIM:163400
Weill-Marchesani Syndrome 2	Short metacarpal, Thin bony cortex, Short stature, Lumbar hyperlordosis, Proportionate short stat...	OMIM:608328
Osteogenesis Imperfecta, Type Xix	Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple p...	OMIM:301014
Mucolipidosis Type Iii	Craniofacial hyperostosis, Short stature, Joint stiffness, Hyperlordosis, Abnormal form of the ve...	ORPHA:577
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal...	OMIM:140000
Camptodactyly Syndrome, Guadalajara Type 2	Short stature, Camptodactyly of finger, Short 3rd toe, Cuboid-shaped vertebral bodies, Hip disloc...	ORPHA:1326
Cutis Laxa, Autosomal Recessive, Type Iie	Joint laxity, Syndactyly, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Craniosyno...	OMIM:619451
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Epicanthus, Coxa valga, Hypertelorism, Osteoporosis, Finger clinodactyly, Patellar subluxation, B...	ORPHA:2958
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Epicanthus, Short stature, Fifth finger distal phalanx clinodactyly, Postnatal growth retardation...	ORPHA:3369
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Craniosynostosis, Hypertelorism, Preaxial...	OMIM:175700
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Hypertelorism, Short neck, Kyphosis, Synophrys, Large fontanelles, Sm...	ORPHA:238750
Mucopolysaccharidosis, Type Vii	Short neck, Flexion contracture, Narrow greater sciatic notch, Anterior beaking of lumbar vertebr...	OMIM:253220
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Short neck, Coxa vara, Wrist flexion contracture, Increased bone minera...	ORPHA:800
Solitary Bone Cyst	Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Patho...	ORPHA:83468
Cole-Carpenter Syndrome 1	Osteopenia, Short stature, Recurrent fractures, Micrognathia, Vertebral compression fracture, Red...	OMIM:112240
Mesomelic Dysplasia, Savarirayan Type	Short stature, Delayed closure of the anterior fontanelle, Abnormal foot morphology, Talipes equi...	OMIM:605274
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Short third metatarsal, Thoracic scoliosis, Camptodactyly of finger, Peroneal muscle atrophy, Abn...	ORPHA:324442
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Short stature, Recurrent fractures, Micrognathia, ...	ORPHA:2050
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Persistent open anterior fontanelle, Wo...	ORPHA:1798
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Severe short stature, Telecanthus, Micromelia, Increased skul...	ORPHA:1422
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Postnatal growth...	OMIM:612394
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Sacral dimple, Short hallux, Proximal placemen...	ORPHA:2438
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Epicanthus, Short stature, Short neck, Synophrys, Flared metaphysis, Advanced ossif...	OMIM:610442
Trisomy 20P	Micrognathia, Short neck, Abnormal form of the vertebral bodies, Reduced bone mineral density, Ve...	ORPHA:261318
Odontotrichoungual-Digital-Palmar Syndrome	Short first metatarsal, Short distal phalanx of toe, Short 1st metacarpal, Short distal phalanx o...	OMIM:601957
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Toe syndactyly, Severe short stature, Highly arched eyebrow, Hyperte...	ORPHA:2319
Pitt-Hopkins Syndrome	Pes planus, Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Sacral dimple, Tape...	OMIM:610954
Steel Syndrome	Carpal synostosis, Pes planus, Lumbar hyperlordosis, Short stature, Hypertelorism, Hip dislocatio...	OMIM:615155
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo...	ORPHA:536467
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Micrognathia, Short...	OMIM:224400
Osteogenesis Imperfecta, Type Vi	Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Increased susceptib...	OMIM:613982
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Severe short stature, Rhizomelia, Lumbar hyperlordosis, Wide anterior fontanel, Kyphosis, Disprop...	OMIM:616482
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Dee...	ORPHA:508533
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Coxa valga, Thoracolumbar kyphosis, Hypoplastic vertebral bodies, Platyspondyly,...	OMIM:230600
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Pseudohypoparathyroidism Type 1C	Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Short stature, Short ne...	ORPHA:79444
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Epicanthus, Sclerotic vertebral body, Kyphosis, Increased skull ossification, Metaphyseal widenin...	OMIM:618476
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Short stature, Metaphyseal widening, Osteoporosis,...	ORPHA:2788
Roifman Syndrome	Hip contracture, Epiphyseal dysplasia, Biconvex vertebral bodies, Short stature, Eosinophilia, Hy...	ORPHA:353298
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Telecanthus, Craniosynostosis, Hypertelo...	ORPHA:380
Microtriplication 11Q24.1	Joint dislocation, Short stature, Hypertelorism, Metatarsus adductus, Short neck, Synophrys, Limi...	ORPHA:289522
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Bowing of the legs, ...	OMIM:613849
Abnormal Hair, Joint Laxity, And Developmental Delay	Short fourth metatarsal, Short fifth metatarsal, Joint hypermobility, 2-3 toe syndactyly, Increas...	OMIM:261990
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Urban-Rogers-Meyer Syndrome	Epicanthus, Toe syndactyly, Short stature, Camptodactyly of finger, Recurrent fractures, Microgna...	ORPHA:3409
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost...	ORPHA:198
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Scoliosis, Short femur, Foot oligodactyly, Amelia	OMIM:601357
Osteoglosphonic Dysplasia	Severe short stature, Rhizomelia, Craniosynostosis, Micrognathia, Hypertelorism, Abnormal form of...	ORPHA:2645
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Severe short stature, Micromelia, Bowing of the legs, Hypoplastic ilia, Microgn...	ORPHA:1865
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Absent radius, Elbow dislocation, ...	OMIM:171480
Achondrogenesis Type 1B	Severe short stature, Micromelia, Micrognathia, Abnormal enchondral ossification, Short neck, Dis...	ORPHA:93298
Catel-Manzke Syndrome	Joint dislocation, Micrognathia, Short neck, Clinodactyly of the 5th finger, Joint laxity, Short ...	OMIM:616145
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossification, Flexion contracture, Preax...	OMIM:210710
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ...	OMIM:134780
Fibrochondrogenesis	Hypoplastic scapulae, Short stature, Camptodactyly of finger, Micromelia, Hypertelorism, Short ne...	ORPHA:2021
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thin bony cortex, Epicanthus, Short stature, Hypertelorism, Increased inte...	OMIM:619727
Mycetoma	Back pain, Abnormality of the knee, Osteomyelitis, Structural foot deformity, Bone cyst, Osteopor...	ORPHA:2583
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Short stature, Micromelia, Craniosynostosis, Micrognathia, Hypertelorism, Spli...	ORPHA:2145
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Kenny-Caffey Syndrome, Type 1	Delayed closure of the anterior fontanelle, Proportionate short stature, Hypertelorism, Small han...	OMIM:244460
Weismann-Netter Syndrome	Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi...	OMIM:112350
Pseudohypoparathyroidism Type 1A	Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Short stature, Short ne...	ORPHA:79443
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Mesomelia, Micrognathia, Brachydactyly	ORPHA:1277
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Postnatal growth retardation, Hypertelorism, Metaphyseal widening, Large fontanelle...	ORPHA:73230
Achondrogenesis Type 1A	Severe short stature, Recurrent fractures, Micromelia, Micrognathia, Abnormal enchondral ossifica...	ORPHA:93299
Ulna Metaphyseal Dysplasia Syndrome	Short stature, Abnormal morphology of ulna, Abnormal fibula morphology, Abnormal form of the vert...	ORPHA:1837
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Short stature, Genu valgum, Slender long bones with narrow diaphyses, Deeply set eye,...	OMIM:608154
Craniometaphyseal Dysplasia, Autosomal Dominant	Hypertelorism, Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Abnormal pelvic gir...	OMIM:123000
Frontometaphyseal Dysplasia 2	Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Elbow...	OMIM:617137
Hyperparathyroidism, Transient Neonatal	Osteopenia, Wide cranial sutures, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bo...	OMIM:618188
Pycnodysostosis	Persistent open anterior fontanelle, Micrognathia, Generalized osteosclerosis, Hypoplastic iliac ...	ORPHA:763
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Epicanthus, Short femur, Sandal gap, Rhizomelia, Hypoplasia of the radius, Short r...	OMIM:607143
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Hypoplasia of the radius, Patel...	OMIM:617604
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Epicanthus, Telecanthus, Short stature, Delayed closure of the anterior...	OMIM:225410
Osteogenesis Imperfecta, Type Xv	Short stature, Recurrent fractures, Platyspondyly, Bowing of limbs due to multiple fractures, Sco...	OMIM:615220
Infantile Liver Failure Syndrome 3	Abnormal acetabulum morphology, Short stature, Abnormality of the epiphysis of the femoral head, ...	OMIM:618641
Juberg-Hayward Syndrome	Aplasia/Hypoplasia of the thumb, Short stature, Highly arched eyebrow, Hypertelorism, Abnormal to...	OMIM:216100
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Proportionate short stature, Short toe, Cone-shaped epiphyses of the phalanges of the...	OMIM:619269
Bone Dysplasia, Lethal Holmgren Type	Joint dislocation, Metaphyseal dysplasia, Rhizomelia, Talipes, Micromelia, Short neck, Abnormal t...	ORPHA:1842
Cenani-Lenz Syndrome	Micromelia, Abnormal form of the vertebral bodies, Foot oligodactyly, Synostosis of carpal bones,...	ORPHA:3258
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint dislocation, Microretrognathia, Joint laxity, Pes planus, Short stature, Monkey wrench femo...	OMIM:618870
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Epicanthus, Short stature, Hypertelorism, Osteolysis involving bones of the upper lim...	ORPHA:88630
Nicolaides-Baraitser Syndrome	Enlarged joints, Short metatarsal, Prominent interphalangeal joints, Sparse medial eyebrow, Short...	OMIM:601358
Jeune Syndrome	Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly...	ORPHA:474
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty...	OMIM:276820
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, O...	OMIM:259770
Dental Anomalies And Short Stature	Short stature, Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vertebral in...	OMIM:601216
Intellectual Developmental Disorder, Autosomal Dominant 53	Epicanthus, Short femur, Genu valgum, Growth delay, Hypotelorism, Overgrowth, Downslanted palpebr...	OMIM:617798
Lethal Osteosclerotic Bone Dysplasia	Micrognathia, Short neck, Large fontanelles, Proptosis, Mandibular aplasia, Intrauterine growth r...	ORPHA:1832
Muenke Syndrome	Ptosis, Broad hallux, Hypertelorism, Capitate-hamate fusion, Cone-shaped epiphyses of the phalang...	OMIM:602849
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Microretrognathia, Finger syndactyly, Epicanthus, Arachnodactyly, Camptodactyly of finger, Short ...	ORPHA:2994
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv...	OMIM:215045
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Short iliac bones, Me...	OMIM:607944
Kuskokwim Syndrome	Talipes, Joint stiffness, Aplasia/Hypoplasia of the patella, Abnormal form of the vertebral bodie...	ORPHA:1149
Schimke Immunoosseous Dysplasia	Osteopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Disproportionate short-trun...	OMIM:242900
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Epicanthus, Rhizomelia, Hyperlordosis, Coxa vara, Genu valgum, D...	ORPHA:2831
Ruvalcaba Syndrome	Ptosis, Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Abnor...	ORPHA:3121
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Osteoarthritis, Abnormal intervertebral disk morphology, Platyspondyly, Joint stiffness	ORPHA:1345
Spinal Dysplasia, Anhalt Type	Osteoarthritis of the small joints of the hand, Short stature, Thoracolumbar scoliosis, Coxa vara...	OMIM:601344
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Short stature, Fused cervical vertebrae, Short middle phalanx of finger,...	OMIM:309620
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Acrocraniofacial Dysostosis	Micrognathia, Abnormal form of the vertebral bodies, Triphalangeal thumb, Spina bifida occulta, S...	ORPHA:949
Hartsfield Syndrome	Telecanthus, Craniosynostosis, Hypertelorism, Split hand, Aplasia/Hypoplasia of the radius, Intra...	ORPHA:2117
Cousin Syndrome	Micrognathia, Short neck, Prominent protruding coccyx, Deeply set eye, Hypoplastic iliac wing, Cl...	OMIM:260660
Acrofrontofacionasal Dysostosis	Ptosis, Short stature, Camptodactyly of finger, Micromelia, Hypertelorism, Eyelid coloboma, Abnor...	ORPHA:1784
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Recurrent fractures, Micromelia, Hypertelorism, Joint hyperflexibility, Decreased calvarial ossif...	ORPHA:2772
Shox-Related Short Stature	Short stature, Micrognathia, Short neck, Madelung deformity, Tibial bowing, Short foot, Genu valg...	ORPHA:314795
Gm1 Gangliosidosis	Short stature, Camptodactyly of finger, Joint stiffness, Hyperlordosis, Kyphosis, Abnormal form o...	ORPHA:354
3M Syndrome	Hypoplasia of the ulna, Thick eyebrow, Congenital hip dislocation, Short stature, Rocker bottom f...	ORPHA:2616
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto...	OMIM:135100
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Short stature, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic gi...	ORPHA:2928
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:600081
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Short stature, Micrognathia, Hypertelorism, Wide anterior font...	OMIM:201170
Mucopolysaccharidosis, Type X	Hyperlordosis, Disproportionate short-trunk short stature, Genu valgum, Hip dysplasia, Posterior ...	OMIM:619698
Hypocalcemic Vitamin D-Resistant Rickets	Joint dislocation, Short stature, Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteo...	ORPHA:93160
Keipert Syndrome	Broad hallux phalanx, Ptosis, Epicanthus, Short stature, Short hallux, Aplasia/Hypoplasia of the ...	ORPHA:2662
Yunis-Varon Syndrome	Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatar...	OMIM:216340
Richieri Costa-Da Silva Syndrome	Joint dislocation, Short stature, Kyphoscoliosis, Short neck, Metatarsus adductus, Limitation of ...	ORPHA:3101
Myhre Syndrome	Short neck, Deeply set eye, Hypoplastic iliac wing, Vertebral fusion, Short stature, Hyperteloris...	OMIM:139210
Pycnodysostosis	Increased bone mineral density, Persistent open anterior fontanelle, Short stature, Aplastic clav...	OMIM:265800
Cleidocranial Dysplasia	Micrognathia, Coxa vara, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Decreased sku...	ORPHA:1452
C Syndrome	Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Short stature, Epicanthus, ...	OMIM:211750
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Broad long bones, Short stature, Abnormal metatarsal morphology, Short neck, Curly eyelashes, Mul...	ORPHA:163654
Larsen Syndrome	Finger syndactyly, Short stature, Craniosynostosis, Large joint dislocations, Hypertelorism, Acce...	ORPHA:503
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Bowing of the long bones, Congenital hip dislocation, Hypertelorism, Large fontanelle...	OMIM:612940
Frank-Ter Haar Syndrome	Genu recurvatum, Camptodactyly of finger, Joint stiffness, Hypertelorism, Kyphosis, Osteolysis, D...	ORPHA:137834
Pitt-Hopkins Syndrome	Pes planus, Tapered finger, Postnatal growth retardation, Short neck, Broad fingertip, Small hand...	ORPHA:2896
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Short ribs, Absent or minimally ossified vertebral bodies, Neonatal...	OMIM:600972
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Short stature, Arachnodactyly, Micromelia, Genu valgum, Joint hyperflexibility, Downs...	ORPHA:1035
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Ptosis, Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies,...	ORPHA:2064
Peters-Plus Syndrome	Proximal placement of thumb, Limited elbow movement, Micrognathia, Short neck, Short metatarsal, ...	OMIM:261540
Potocki-Shaffer Syndrome	Epicanthus, 2-5 finger cutaneous syndactyly, Brachydactyly, Telecanthus, Wormian bones, Downslant...	OMIM:601224
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Short stature, Recurrent fractures, Increased susceptibility to fractures, Femoral bo...	OMIM:615066
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Short stature, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of ...	ORPHA:2491
Larsen-Like Syndrome	Joint dislocation, Joint laxity, Short stature, Kyphoscoliosis, Hypertelorism, Wide anterior font...	OMIM:608545
Myhre Syndrome	Craniofacial hyperostosis, Brachydactyly, Severe short stature, Ptosis, Joint stiffness, Blepharo...	ORPHA:2588
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal form of t...	ORPHA:3429
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent...	OMIM:119600
Achondrogenesis	Severe short stature, Micromelia, Micrognathia, Abnormal enchondral ossification, Short neck, Abn...	ORPHA:932
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Lateral humeral condyle aplasia, Fibular hypoplasia...	OMIM:164900
Acrofrontofacionasal Dysostosis 2	Syndactyly, Sacral dimple, Broad hallux, Short stature, Hypertelorism, Wide anterior fontanel, Ha...	OMIM:239710
Muenke Syndrome	Tarsal synostosis, Hypertelorism, Cone-shaped epiphysis, Short foot, Proptosis, Short palm, Carpa...	ORPHA:53271
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Craniosynostosis, Joint stiffness, Hypertelorism, Short neck, Highly ar...	ORPHA:309282
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Synophrys, Dislocated radial head, ...	OMIM:102500
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Epicanthus, Lumbar hyperlordosis, Thoracolumbar scoliosi...	ORPHA:3041
Craniosynostosis 6	Delayed cranial suture closure, Craniosynostosis, Hypertelorism, Right unilambdoid synostosis, Sc...	OMIM:616602
Refsum Disease, Classic	Short fourth metatarsal, Pes cavus, Ptosis	OMIM:266500
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness, ...	ORPHA:83
Gillessen-Kaesbach-Nishimura Syndrome	Epicanthus, Ulnar deviation of the hand, Telecanthus, Micrognathia, Hypertelorism, Wide anterior ...	OMIM:263210
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Developmental And Epileptic Encephalopathy 95	Joint laxity, Short digit, Short fourth metatarsal, Multiple joint contractures, Highly arched ey...	OMIM:618143
Trisomy 8P	Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Multiple joint contractures, Cl...	ORPHA:264450
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint dislocation, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusi...	OMIM:225400
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Short stature, Bowing of the legs, Hypoplastic ilia, Kyphosis, Disproporti...	ORPHA:1855
Fountain Syndrome	Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Short sta...	ORPHA:3219
Frank-Ter Haar Syndrome	Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Short palm, Short phalanx of ...	OMIM:249420
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Severe short stature, Epicanthus, Micrognathia, Hyperlordosis, Fa...	ORPHA:2780
1p36 microdeletion syndrome	Deeply set eye, Delayed cranial suture closure	DECIPHER:18
Chilton-Okur-Chung Neurodevelopmental Syndrome	Short fourth metatarsal, Hooded eyelid, Micrognathia, Synophrys, Short stature, Highly arched eye...	OMIM:619841
Stickler Syndrome	Joint dislocation, Micrognathia, Osteoarthritis, Abnormal form of the vertebral bodies, Reduced b...	ORPHA:828
Spondyloocular Syndrome	Long toe, Osteopenia, Pes planus, Overlapping toe, Arachnodactyly, Femur fracture, Short stature,...	OMIM:605822
Potocki-Shaffer syndrome	Delayed cranial suture closure	DECIPHER:34
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Rocker bottom foot, Recurrent fractures, Micrognathia, Talipes equinovalgus, Tibia...	ORPHA:453510
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar...	OMIM:250420
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Ptosis, Short stature, Epicant...	ORPHA:794
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Telecanthus, Duplication of thumb phalanx, Tarsal synostosis, Micro...	ORPHA:2756
Short Stature-Wormian Bones-Dextrocardia Syndrome	Short stature, Camptodactyly of finger, Micrognathia, Long eyelashes, Wormian bones, Downslanted ...	ORPHA:2863
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d...	OMIM:268310
Robinow-Sorauf Syndrome	Hallux valgus, Broad hallux, Craniosynostosis, Hypertelorism, Bilateral ptosis, Pansynostosis, Sh...	OMIM:180750
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h...	ORPHA:93258
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Disproportionate short sta...	ORPHA:93317
17Q23.1Q23.2 Microdeletion Syndrome	Long toe, Pes planus, Sacral dimple, Epicanthus, Sandal gap, Short stature, Highly arched eyebrow...	ORPHA:261279
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Osteoarthritis, Ri...	OMIM:307800
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr...	OMIM:143095
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Short stature, Femoral retroversion, Hypertelorism, Micromelia, Kyphosis, S...	ORPHA:79107
Mandibuloacral Dysplasia With Type A Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Abnormal eyebrow morphology, Short stature, Absent eyelashes...	ORPHA:90153
8Q24.3 Microdeletion Syndrome	Thoracic scoliosis, Congenital hip dislocation, Micromelia, Short neck, Finger clinodactyly, Deep...	ORPHA:508488
Schimke Immuno-Osseous Dysplasia	Wide capital femoral epiphyses, Short stature, Lumbar hyperlordosis, Ovoid vertebral bodies, Shor...	ORPHA:1830
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Short neck, Flexion contracture, Hypotelorism, Deeply set eye, Genu varum, Long toe...	OMIM:264090
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Ptosis, Short metacarpal, Sacral dimple, Short stature, Epicanthus, Hypertelorism, Short neck, Sh...	OMIM:617157
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Wide cranial sutures, Short stature, Osteomalacia, Irregular, rachitic...	ORPHA:289157
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact...	OMIM:602418
Eiken Syndrome	Short stature, Broad femoral neck, Hypertelorism, Delayed epiphyseal ossification, Flat acetabula...	OMIM:600002
Microcephalic Primordial Dwarfism, Dauber Type	Short stature, Abnormal carpal morphology, Madelung deformity, Hypotelorism, Severe postnatal gro...	ORPHA:319675
Occipital Horn Syndrome	Joint laxity, Short humerus, Persistent open anterior fontanelle, Pes planus, Pelvic bone exostos...	OMIM:304150
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:241530
Menkes Disease	Joint laxity, Short stature, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Wormian bones...	OMIM:309400
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Sclerotic cranial sutures, Abnormal hand morphology, Osteolysis involvin...	ORPHA:371428
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Telecanthus, Hypertelorism, Osteopetrosis, Abnormal metaphysis morphology	ORPHA:1522
Campomelic Dysplasia	Micrognathia, Short neck, Tibial bowing, Femoral bowing, Hypoplastic inferior ilia, Poorly ossifi...	ORPHA:140
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Short neck, Metaphyseal widening, Irregular vertebral endplates, Met...	ORPHA:99646
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Severe short stature, Micromelia, Micrognathia, Short long bone, Overgr...	OMIM:224410
Codas Syndrome	Ptosis, Short metacarpal, Congenital hip dislocation, Short stature, Epicanthus, Abnormal form of...	ORPHA:1458
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Epicanthus, ...	OMIM:277440
Marbach-Rustad Progeroid Syndrome	Femur fracture, Short stature, Micrognathia, Reduced bone mineral density, Growth delay, Proptosi...	OMIM:619322
Trigonocephaly 1	Epicanthus, Craniosynostosis, Synophrys, Hypotelorism, Upslanted palpebral fissure, Lumbar hemive...	OMIM:190440
3Mc Syndrome 1	Conjunctival telangiectasia, Synophrys, Epicanthus inversus, Clinodactyly of the 5th finger, Spin...	OMIM:257920
Mohr Syndrome	Syndactyly, Telecanthus, Wormian bones, Short stature, Micrognathia, Hypertelorism, Preaxial hand...	OMIM:252100
Microcephaly-Micromelia Syndrome	Craniosynostosis, Absent thumb, Absent radius, Micromelia, Micrognathia, Humeroradial synostosis,...	OMIM:251230
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Wormian bones, Recurrent fractures	ORPHA:2773
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ...	ORPHA:3312
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Severe short stature, Delayed cranial suture closure, Severe generalized osteopo...	OMIM:210730
Sifrim-Hitz-Weiss Syndrome	Epicanthus, Short stature, Tapered finger, Hypertelorism, Flat acetabular roof, Upslanted palpebr...	OMIM:617159
Gm1 Gangliosidosis Type 1	Hypoplastic vertebral bodies, Flared iliac wing, Short long bone, Platyspondyly, Beaking of verte...	ORPHA:79255
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Arthropathy, Limitation of joint mobility, Osteoporosis, Clubbing, Osteolytic defects...	OMIM:259100
Cutis Laxa, Autosomal Recessive, Type Iiia	Wide cranial sutures, Congenital hip dislocation, Short stature, Hypertelorism, Hip dislocation, ...	OMIM:219150
Fucosidosis	Cervical platyspondyly, Absent/hypoplastic paranasal sinuses, Lumbar hyperlordosis, Short stature...	OMIM:230000
3Mc Syndrome	Ptosis, Telecanthus, Craniosynostosis, Hypertelorism, Postnatal growth retardation, Hyperlordosis...	ORPHA:293843
Six2-Related Frontonasal Dysplasia	Absent/hypoplastic paranasal sinuses, Short stature, Hypertelorism, Wide anterior fontanel, Prema...	ORPHA:488437
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi...	ORPHA:175
Coffin-Siris Syndrome 6	Epicanthus, Short stature, Kyphoscoliosis, Micrognathia, Narrow palpebral fissure, Wormian bones,...	OMIM:617808
Craniosynostosis 2	Craniosynostosis, Unicoronal synostosis, Hypotelorism, Triphalangeal thumb, Metopic synostosis, W...	OMIM:604757
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Tall stature, Short stature, Recurrent fractures, Kyphos...	OMIM:309583
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Epiphyseal dysplasia, Joint laxity, Pes planus, Hypoplasia of the femoral he...	OMIM:610797
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Sacral dimple, Short stature, Kyphoscoliosis, Micrognathia, Hypertelorism, Partial...	OMIM:616331
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Multiple prenatal fractures, Decreased calvarial ossification, Bowing of limbs due to multiple fr...	OMIM:259410
2Q31.1 Microdeletion Syndrome	Micrognathia, Short neck, Abnormal tibia morphology, Synophrys, Vertebral segmentation defect, Sh...	ORPHA:251014
Oculodentodigital Dysplasia, Autosomal Recessive	Wide cranial sutures, Broad long bones, Short stature, Sparse eyelashes, Fifth finger distal phal...	OMIM:257850
Grant Syndrome	Wormian bones, Micrognathia, Down-sloping shoulders, Tibial bowing	OMIM:138930
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Pes planus, Short femur, Short stature, Talipes, Micrognathia, Short neck, Synophrys, Talipes equ...	OMIM:300990
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Rhyns Syndrome	Osteopenia, Ptosis, Radial bowing, Short stature, Osteoporosis, Deeply set eye, Short long bone, ...	OMIM:602152
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Epicanthus, Abs...	OMIM:608022
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypertelorism, Hypoplasia of the ...	OMIM:212780
Premature Aging Syndrome, Penttinen Type	Hyperextensibility of the knee, Micrognathia, Palmoplantar hyperkeratosis, Tibial bowing, Hypotel...	OMIM:601812
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow...	OMIM:200600
Pfeiffer Syndrome	Finger syndactyly, Brachydactyly, Ptosis, Short stature, Hypertelorism, Short neck, Hyperlordosis...	ORPHA:710
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Epicanthus, Sandal gap, Broad hallux, Micromelia, Short stature, Postnatal growth ret...	OMIM:614800
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Prominent metopic ridge, Epicanthus, Micrognathia, Hypertelorism, Shor...	ORPHA:2789
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:264700
Idiopathic Congenital Hypothyroidism	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis ...	ORPHA:95717
Cdags Syndrome	Ectropion, Sparse eyelashes, Sagittal craniosynostosis, Sparse eyebrow, Kyphosis, Large fontanell...	OMIM:603116
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Short stature, Hypertelorism, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar ...	OMIM:119800
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Short stature, Bowi...	OMIM:300554
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Polyarticular arthropathy, Bone cy...	ORPHA:2848
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Short stature, Sparse eyelashes, Micrognathia, Short neck, Abnormal eyelid mor...	ORPHA:1787
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint laxity, Os odontoideum, Postnatal growth retardation, Hip dislocation, Talipes ...	OMIM:616603
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Severe short stature, Joint stiffness, Hypertelorism, Kyphosis, Abnormality of...	ORPHA:1005
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Talipes calcaneovalgu...	OMIM:265000
Phaver Syndrome	Broad hallux phalanx, Epicanthus, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal...	ORPHA:2876
Spondyloepimetaphyseal Dysplasia, Krakow Type	Ulnar deviation of the wrist, Rhizomelia, Elbow contracture, Hypertelorism, 2-3 toe syndactyly, K...	OMIM:618162
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Severe short stature, Micrognathia, Hypert...	OMIM:156400
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Wide cranial sutures, Short stature, Sparse eyelashes, Limited elbow movement,...	OMIM:614008
Focal Dermal Hypoplasia	Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifid...	OMIM:305600
Infantile Systemic Hyalinosis	Osteopenia, Severe short stature, Osteomalacia, Camptodactyly of finger, Micromelia, Recurrent fr...	ORPHA:2176
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ...	OMIM:312150
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Clinodactyly of the ...	ORPHA:235
Image Syndrome	Metaphyseal dysplasia, Micromelia, Intrauterine growth retardation	ORPHA:85173
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Short stature, Micrognathia, Hypertelorism, Mesomelia, Proptosis, Long ...	OMIM:618529
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ...	ORPHA:1512
Lenz-Majewski Hyperostotic Dwarfism	Abnormal finger morphology, Symphalangism affecting the phalanges of the hand, Short palm, Elbow ...	ORPHA:2658
Gomez-Lopez-Hernandez Syndrome	Short stature, Craniosynostosis, Hypertelorism, Wide anterior fontanel, Wormian bones, Downslante...	OMIM:601853
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Cervical platyspondyly, Ptosis, Scoliosis, Hypertelorism	OMIM:618731
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Hypoplastic ischia, Bowing of the legs, Micrognathia, Hypertelorism, Abnormality of t...	ORPHA:313855
Marshall-Smith Syndrome	Bowing of the long bones, Craniosynostosis, Hypertelorism, Increased susceptibility to fractures,...	ORPHA:561
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Short stature, Epicanthus, Postaxial ...	OMIM:614091
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Hypothyroidism, Congenital, Nongoitrous, 6	Wormian bones, Congenital hip dislocation, Growth delay, Hypertelorism	OMIM:614450
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Short stature, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of...	ORPHA:1765
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Down-sloping shoulders, Coxa valga, Micrognathia, Postnatal growth retardation, Joint...	OMIM:248370
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Hypertelorism, Postnatal grow...	OMIM:300963
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Thick eyebrow, Telecanthus, Symblepharon, Short neck, Small hand, Short foot, Spina b...	ORPHA:488434
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Epicanthus, Short stature, Talipes, Micromeli...	ORPHA:1908
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Bifid femur, I...	ORPHA:2769
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Shallow orb...	OMIM:101200
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Pes planus, Hyperlordosis, Kyphosis, Hip ...	OMIM:617821
Momo Syndrome	Epicanthus, Short stature, Hypertelorism, Short neck, Femoral bowing, Large hands, Eyelid colobom...	ORPHA:2563
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Abnorm...	ORPHA:2636
Intellectual Disability, Buenos-Aires Type	Short stature, Hypertelorism, Blepharophimosis, Reduced bone mineral density, Abnormal pelvic gir...	ORPHA:3079
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ...	OMIM:253290
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Joint dislocation, Genu recurvatum, Micrognathia, Flexion contracture, Dislocated rad...	OMIM:130070
Frontometaphyseal Dysplasia 1	Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo...	OMIM:305620
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o...	OMIM:114290
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Tall stature, Arachnodactyly, Joint hypermobility, Hypertelorism, Synophrys, Abnormal...	ORPHA:2463
Stüve-Wiedemann Syndrome	Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Shor...	ORPHA:3206
Bent Bone Dysplasia Syndrome 1	Bent long bone, Micrognathia, Hypertelorism, Hypoplastic pubic bone, Decreased calvarial ossifica...	OMIM:614592
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Synophrys, Hypoplastic vertebral bodies, Deeply set eye, Long toe, Short stature, Hyp...	ORPHA:3455
Pfeiffer Syndrome	Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H...	OMIM:101600
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Synophrys, Decreased skull ossifica...	ORPHA:955
Pallister-Hall-Like Syndrome	Toe syndactyly, Short stature, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislocat...	OMIM:241800
Bartsocas-Papas Syndrome 1	Micrognathia, Short neck, Cicatricial lagophthalmos, Flexion contracture, Ankyloblepharon, Hypopl...	OMIM:263650
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Epicanthus, Short stature, Elbow dislocation, Kyphosis, Postaxial hand polydact...	ORPHA:2916
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Micrognathia, Short neck, Flexion contracture, Hemivertebrae, Tibial bowing, Deeply set eye, Hypo...	ORPHA:96334
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the...	ORPHA:1788
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Palpebral edema, Micromelia, Sh...	ORPHA:3003
45,X/46,Xy Mixed Gonadal Dysgenesis	Hallux valgus, Epicanthus, Short stature, Micrognathia, Short metatarsal, Scoliosis, Delayed pube...	ORPHA:1772
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Mesomelia, Broad thumb, Brachydactyly	ORPHA:171866
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Short stature, Kyphoscoliosis, Hip dislocation, Limb undergrowth, Intrauterine growth...	OMIM:618005
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Short neck, Postnatal growth retardation, Ky...	OMIM:302960
Cardioacrofacial Dysplasia 2	Recurrent patellar dislocation, Hypertelorism, Postaxial hand polydactyly, Clubbing, Genu valgum,...	OMIM:619143
Mandibuloacral Dysplasia With Type B Lipodystrophy	Micrognathia, Flexion contracture, Growth delay, Proptosis, Progressive clavicular acroosteolysis...	OMIM:608612
Baraitser-Winter Cerebrofrontofacial Syndrome	Prominent metopic ridge, Epicanthus, Telecanthus, Duplication of thumb phalanx, Highly arched eye...	ORPHA:2995
Melnick-Needles Syndrome	Short humerus, Pes planus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphos...	OMIM:309350
W Syndrome	Hypoplasia of the ulna, Pes planus, Radial bowing, Telecanthus, Hypertelorism, Metatarsus adductu...	ORPHA:2804
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Severe short stature, Micromelia, Upslanted palpebral fissure, Trapezoidal vert...	OMIM:600092
Enthesitis-Related Juvenile Idiopathic Arthritis	Back pain, Abnormal metatarsal morphology, Knee osteoarthritis, Enthesitis, Abnormal shoulder mor...	ORPHA:85438
Lateral Meningocele Syndrome	Vertebral fusion, Telecanthus, Short stature, Micrognathia, Hypertelorism, Short neck, Kyphosis, ...	OMIM:130720
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Metaphyseal widening, Shallow orbits, Dislocated radia...	OMIM:182212
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ...	ORPHA:2879
X Small Rings	Joint laxity, Epicanthus, Toe syndactyly, Tapered finger, Hypertelorism, Short neck, Osteoporosis...	ORPHA:96201
De Barsy Syndrome	Osteopenia, Epicanthus, Congenital hip dislocation, Short stature, Delayed closure of the anterio...	ORPHA:2962
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Short stature, Blepharophimosis, Metatarsus adductus, Premature osteoarthri...	OMIM:611962
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Epicanthus, Telecanthus, Overlapping toe, Thick eyebrow, Hypertelorism, Flexion contracture, Upsl...	OMIM:619383
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Hip contracture, Ankle flexion contracture, Knee flexion contracture, Reduced bone mineral densit...	OMIM:620232
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Joint stiffness, Microg...	ORPHA:2062
Orofaciodigital Syndrome Iv	Epicanthus, Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Hypertelorism, Ha...	OMIM:258860
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex...	ORPHA:3103
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Disproportionate short stature, Coxa vara, Narrow pelvis bone, Joint hyperflexibility...	ORPHA:2637
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee flexion contracture, C...	OMIM:151050
Autosomal Recessive Cutis Laxa Type 2A	Pes planus, Persistent open anterior fontanelle, Congenital hip dislocation, Joint hypermobility,...	ORPHA:357058
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Short stature	ORPHA:1861
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Large posterior fontanelle, Absent eyebrow, Tarsal synostosis, Aplastic clavicle, Micrognathia, A...	ORPHA:85199
Raine Syndrome	Bowing of the long bones, Increased bone mineral density, Short stature, Micromelia, Micrognathia...	OMIM:259775
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Kinsship Syndrome	Osteopenia, Pes planus, Sacral dimple, Short stature, Coxa valga, Micrognathia, Hypertelorism, Sh...	OMIM:619297
3Mc Syndrome 2	Ptosis, Limited elbow movement, Craniosynostosis, Postnatal growth retardation, Hypertelorism, Hi...	OMIM:265050
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Short stature, Tapered finger, Epiblepharon, Thick eyebrow	OMIM:618367
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Gorlin-Chaudhry-Moss Syndrome	Short stature, Hypertelorism, Abnormal eyelid morphology, Abnormal foot morphology, Upper eyelid ...	ORPHA:2095
Microphthalmia With Limb Anomalies	Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing...	ORPHA:1106
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, Short neck, Hemivertebrae, Coxa vara, Abnormal form of the vertebral bo...	ORPHA:3107
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Short stature, Hyperlordosis, Short neck, Nasolacrimal duct obstruction, Abnormal form of the ver...	ORPHA:3218
Lowe Oculocerebrorenal Syndrome	Short stature, Osteomalacia, Camptodactyly of finger, Wrist swelling, Postnatal growth retardatio...	OMIM:309000
Fontaine Progeroid Syndrome	Syndactyly, Short stature, Craniosynostosis, Micrognathia, Hypertelorism, Wide anterior fontanel,...	OMIM:612289
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Prominent metopic ridge, Epicanthus, Short neck, Synophrys, Osteopor...	ORPHA:488632
Acro-Renal-Ocular Syndrome	Vertebral segmentation defect, Triphalangeal thumb, Hypoplasia of the ulna, Finger syndactyly, Br...	ORPHA:959
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Coxa vara, Microretrognathia, Short stature, Hyperteloris...	OMIM:278250
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Short stature, Hypertelorism, Postnatal growt...	ORPHA:93325
Distal Duplication 5Q	Hypoplasia of the ulna, Epicanthus, Short stature, Craniosynostosis, Absent thumb, Micrognathia, ...	ORPHA:96097
Becker Nevus Syndrome	Micromelia, Lower limb asymmetry, Kyphosis, Abnormal tibia morphology, Scoliosis, Spina bifida oc...	ORPHA:64755
Congenital Varicella Syndrome	Intrauterine growth retardation, Micromelia	ORPHA:291
Shprintzen-Goldberg Syndrome	Osteopenia, Pes planus, Bowing of the long bones, Telecanthus, Arachnodactyly, Camptodactyly of f...	ORPHA:2462
Dpm1-Cdg	Sandal gap, Micrognathia, Hypertelorism, Knee flexion contracture, Camptodactyly, Limb undergrowt...	ORPHA:79322
Neu-Laxova Syndrome	Osteopenia, Abnormal nasolacrimal system morphology, Osteomalacia, Micromelia, Micrognathia, Hype...	ORPHA:2671
Mosaic Trisomy 9	Camptodactyly of finger, Rocker bottom foot, Micrognathia, Elbow dislocation, Micromelia, Hyperte...	ORPHA:99776
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Sacral dimple, Epicanthus, Short stature, Telecanthus, Micrognathia, Hypertelorism, S...	OMIM:616894
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Cardiospondylocarpofacial Syndrome	Severe short stature, Abnormal form of the vertebral bodies, Short palm, Synostosis of carpal bon...	ORPHA:3238
Aymé-Gripp Syndrome	Prominent metopic ridge, Short stature, Rocker bottom foot, Craniosynostosis, Tapered finger, Pos...	ORPHA:1272
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Robinow Syndrome, Autosomal Dominant 1	Micrognathia, Short neck, Short palm, Duplication of the distal phalanx of hand, Dislocated radia...	OMIM:180700
Lessel-Kreienkamp Syndrome	Wide cranial sutures, Epicanthus, Upslanted palpebral fissure, Deeply set eye, Clinodactyly of th...	OMIM:619149
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Osteoarthriti...	ORPHA:666
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Short stature, Limited elbow movement, Limited wrist movement, Short foot, ...	OMIM:617809
3P25.3 Microdeletion Syndrome	Sacral dimple, Epicanthus, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fi...	ORPHA:435638
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Flexion contracture, Growth delay, Polydactyly, Ptosis	ORPHA:17
Lowry-Maclean Syndrome	Osteopenia, Craniosynostosis, Micrognathia, Osteoporosis, Growth delay, Small anterior fontanelle...	ORPHA:2409
Autosomal Recessive Robinow Syndrome	Micrognathia, Short neck, Vertebral segmentation defect, Clinodactyly of the 5th finger, Synostos...	ORPHA:1507
Oculocerebrorenal Syndrome Of Lowe	Short stature, Osteomalacia, Recurrent fractures, Micrognathia, Joint stiffness, Kyphosis, Hip di...	ORPHA:534
Atelosteogenesis Type Iii	Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi...	ORPHA:56305
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synos...	ORPHA:90652
Kagami-Ogata Syndrome	Kyphoscoliosis, Micrognathia, Coxa valga, Long fingers, Blepharophimosis, Flexion contracture, Li...	OMIM:608149
Ogden Syndrome	Microretrognathia, Broad hallux, Postnatal growth retardation, Aplasia/Hypoplasia of the eyebrow,...	ORPHA:276432
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f...	OMIM:272460
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Micrognathia, Shallow orbits, Downslanted palpebral fissures, Delayed cranial sut...	ORPHA:1129
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures	ORPHA:85193
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Increased density of long bones, Hypertelorism, Wide distal femoral meta...	OMIM:269150
Silver-Russell Syndrome 1	Syndactyly, Micrognathia, Abnormal foot morphology, Short distal phalanx of the 5th finger, Clino...	OMIM:180860
Short-Rib Thoracic Dysplasia 12	Epicanthus, Hypoplastic scapulae, Bowing of the legs, Hypertelorism, Short neck, Short toe, Short...	OMIM:269860
Familial Thyroid Dyshormonogenesis	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis ...	ORPHA:95716
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Hypertelorism, Short neck, Kyphosis, Cone-shaped epiphyses o...	ORPHA:420794
Chand Syndrome	Short fifth metatarsal, Ankyloblepharon, Hypertelorism	ORPHA:1401
Slc39A8-Cdg	Osteopenia, Short stature, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture,...	ORPHA:468699
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Hypoplasia of the radius, Propto...	OMIM:617895
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ab...	ORPHA:3472
Marshall-Smith Syndrome	Thoracic scoliosis, Large sternal ossification centers, Synophrys, Distal widening of metacarpals...	OMIM:602535
Acrocephalopolydactylous Dysplasia	Epicanthus, Craniosynostosis, Hypertelorism, Short neck, Micromelia, Postaxial hand polydactyly, ...	OMIM:200995
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Hypertelorism, La...	ORPHA:87
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Highly arched eyebrow, Hypertelorism, Sparse eyebrow, Flexion contracture, Ups...	OMIM:619124
Curry-Jones Syndrome	Bicoronal synostosis, Wormian bones, Duplication of thumb phalanx, Blepharophimosis, Preaxial han...	OMIM:601707
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Micrognathia, Coxa valg...	ORPHA:263508
Trisomy 10P	Thumb contracture, Wide cranial sutures, Epicanthus, Micrognathia, Hypertelorism, Abnormal foot m...	ORPHA:171929
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Short stature, Micrognathia, Elbow dislocation, Irregular femoral epiphy...	OMIM:613805
Townes-Brocks Syndrome 1	2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Talipes, Preaxia...	OMIM:107480
Cohen-Gibson Syndrome	Osteopenia, Joint laxity, Epicanthus, Coxa valga, Hypoplastic iliac wing, Long fingers, Hypertelo...	OMIM:617561
Desmosterolosis	Increased bone mineral density, Severe short stature, Epicanthus, Talipes, Micromelia, Micrognath...	ORPHA:35107
Craniolenticulosutural Dysplasia	Osteopenia, Joint laxity, Pes planus, Short stature, Delayed closure of the anterior fontanelle, ...	OMIM:607812
Pyruvate Dehydrogenase E1-Alpha Deficiency	Talipes, Flexion contracture, Limb undergrowth, Intrauterine growth retardation, Pes cavus	ORPHA:79243
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Sacral dimple, Hypertelorism, Preaxial hand polydactyly,...	ORPHA:2211
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr...	OMIM:218600
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Sacral dimple, Short stature, Hypertelorism, Postnatal ...	ORPHA:261323
Radio-Renal Syndrome	Severe short stature, Micromelia, Micrognathia, Short neck, Hypoplasia of the radius, Abnormality...	ORPHA:3015
Alg9-Cdg	Microretrognathia, Prominent metopic ridge, Ulnar deviation of the hand, Rhizomelia, Telecanthus,...	ORPHA:79328
Campomelia, Cumming Type	Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Clubbing of toes, Brachydactyly	ORPHA:1318
Geleophysic Dysplasia 2	Short stature, Ovoid vertebral bodies, Joint stiffness, Hypertelorism, Limitation of joint mobili...	OMIM:614185
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Sandal gap, Delayed cranial suture closure, Short stature, Decreased fibular diameter...	OMIM:619127
Diamond-Blackfan Anemia 1	11 pairs of ribs, Epicanthus, Short stature, Absent thumb, Hypoplastic ilia, Short thumb, Partial...	OMIM:105650
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Short stature, Kyphosis, Synophrys, Bo...	ORPHA:3042
Silver-Russell Syndrome	Sandal gap, Short stature, Micrognathia, Postnatal growth retardation, Lower limb asymmetry, Abno...	ORPHA:813
Cardioacrofacial Dysplasia 1	Limb undergrowth, Postaxial polydactyly, Genu valgum	OMIM:619142
Cranioectodermal Dysplasia 2	Unilateral ptosis, Micrognathia, Short neck, Joint laxity, Syndactyly, Rhizomelia, Short stature,...	OMIM:613610
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Severe short stature, Abnormal pelvis bone morphology, Camptodactyly of finger, A...	ORPHA:2273
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Osteolysis, Pedal edema, Gr...	ORPHA:77259
White-Sutton Syndrome	Joint laxity, Short stature, Micrognathia, Hypertelorism, Short neck, Hypoplastic cervical verteb...	OMIM:616364
Gapo Syndrome	Epicanthus, Sparse eyelashes, Joint hypermobility, Delayed closure of the anterior fontanelle, Mi...	OMIM:230740
Osteogenesis Imperfecta, Type Xx	Kyphoscoliosis, Highly arched eyebrow, Multiple prenatal fractures, Disproportionate short-limb s...	OMIM:618644
Thanatophoric Dysplasia, Glasgow Variant	Micromelia	OMIM:273680
Wrinkly Skin Syndrome	Osteopenia, Pes planus, Epicanthus, Congenital hip dislocation, Short stature, Delayed closure of...	ORPHA:2834
Chromosome 14Q11-Q22 Deletion Syndrome	Prominent metopic ridge, Epicanthus, Proportionate short stature, Micrognathia, Hypertelorism, Gr...	OMIM:613457
Mandibuloacral Dysplasia	Micrognathia, Postnatal growth retardation, Contractures of the large joints, Osteolytic defects ...	ORPHA:2457
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Micromelia, Micrognathia, Short neck, Synophrys, Clinodactyly of the...	OMIM:122470
Orofaciodigital Syndrome Type 2	Finger syndactyly, Telecanthus, Broad hallux, Short stature, Micrognathia, Short tibia, Adactyly,...	ORPHA:2751
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Postaxial polydactyly, ...	OMIM:612651
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Eosinophilia, Abnormal pelvic girdle bone morphology, Growth arrest lines, Platyspondyly	OMIM:102700
Tenorio Syndrome	Osteopenia, Joint laxity, Telecanthus, Thick eyebrow, Keratoconjunctivitis sicca, Scoliosis, Dela...	OMIM:616260
Hennekam-Beemer Syndrome	Short stature, Camptodactyly of finger, Micrognathia, Lower limb asymmetry, Upslanted palpebral f...	ORPHA:2135
Short Stature, Microcephaly, And Endocrine Dysfunction	Short stature, Hypotelorism, Deeply set eye, Disproportionate short-limb short stature, Limb unde...	OMIM:616541
Craniosynostosis 4	Sagittal craniosynostosis, Hypertelorism, Proptosis, Pansynostosis, Lambdoidal craniosynostosis, ...	OMIM:600775
Hallermann-Streiff Syndrome	Sparse eyelashes, Proportionate short stature, Micrognathia, Tracheomalacia, Hyperlordosis, Metap...	OMIM:234100
Rubinstein-Taybi Syndrome 1	Plantar crease between first and second toes, Micrognathia, Flexion contracture, Deeply set eye, ...	OMIM:180849
Immunodeficiency 49	Eosinophilia, Hypertelorism, Micrognathia, Upslanted palpebral fissure, Wormian bones, Short palp...	OMIM:617237
D-Bifunctional Protein Deficiency	Osteopenia, Epicanthus, Micrognathia, Hypertelorism, Split hand, Large fontanelles, Upslanted pal...	OMIM:261515
Restrictive Dermopathy 1	Micrognathia, Flexion contracture, Overtubulated long bones, Hypertelorism, Absent eyelashes, Wid...	OMIM:275210
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Severe short stature, Short stature, Delayed closure of the anter...	OMIM:127000
Glutamine Deficiency, Congenital	Flexion contracture, Micromelia, Camptodactyly	OMIM:610015
Neu-Laxova Syndrome 1	Finger syndactyly, Ablepharon, Toe syndactyly, Pterygium, Rocker bottom foot, Micromelia, Microgn...	OMIM:256520
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Palpebral edema, Micromelia, Short neck, Adducted thumb	ORPHA:50810
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Short neck, Abnormal form of the vertebral bodies, Tal...	ORPHA:818
Coffin-Siris Syndrome 12	Micrognathia, Synophrys, Hypotelorism, Deeply set eye, Joint laxity, Short stature, Highly arched...	OMIM:619325
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Y-shaped metacarpals, Toe syndactyly, Mesoaxial hand poly...	OMIM:146510
Aspartylglucosaminuria	Joint laxity, Short stature, Kyphosis, Hypoplastic frontal sinuses, Platyspondyly, Spondylolysis,...	OMIM:208400
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Short stature, Kyphoscoliosis, Bifid distal phalanx of the ...	ORPHA:97360
Ayme-Gripp Syndrome	Ptosis, Broad eyebrow, Short stature, Tapered finger, Hypertelorism, Upslanted palpebral fissure,...	OMIM:601088
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ptosis, Short stature, Tracheomalacia, Micrognathia, Highly arched eyebrow, Synophrys, Small hand...	ORPHA:444077
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Epicanthus, Overlapping toe, Highly arched eyebrow, Tapered finger, Hypertelorism, 2-3 toe syndac...	OMIM:618653
Porphyria, Congenital Erythropoietic	Osteopenia, Absent eyebrow, Short stature, Loss of eyelashes, Osteolysis, Conjunctivitis, Patholo...	OMIM:263700
Gaucher Disease, Type I	Pathologic fracture, Vertebral compression fracture, Erlenmeyer flask deformity of the femurs	OMIM:230800
Ogden Syndrome	Large posterior fontanelle, Congenital hip dislocation, Micrognathia, Short neck, Abnormal eyelid...	OMIM:300855
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Micrognathia, Postnatal growth retardation, Short neck, Humerora...	ORPHA:3404
Leukocyte Adhesion Deficiency Type Ii	Overlapping toe, Short stature, Palpebral edema, Hypertelorism, Long eyelashes, Limb undergrowth,...	ORPHA:99843
Schinzel-Giedion Syndrome	Sacrococcygeal teratoma, Overlapping toe, Kyphoscoliosis, Micrognathia, Hypertelorism, Wide anter...	ORPHA:798
Hydrolethalus	Deeply set eye, Postaxial hand polydactyly, Micromelia, Micrognathia	ORPHA:2189
Shwachman-Diamond Syndrome	Osteopenia, Osteomyelitis, Short stature, Metaphyseal chondrodysplasia, Metaphyseal widening, Abn...	ORPHA:811
Orofaciodigital Syndrome Type 4	Joint dislocation, Finger syndactyly, Severe short stature, Camptodactyly of finger, Micromelia, ...	ORPHA:2753
Craniosynostosis And Dental Anomalies	Hallux valgus, Prominent metopic ridge, Broad hallux, Short stature, Sagittal craniosynostosis, H...	OMIM:614188
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Large posterior fontanelle, Pituitary dwarfism, Short neck, Delayed proximal femoral epiphyseal o...	ORPHA:226307
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Severe short stature, Wide anterior fontanel, Dermatochalasis, Hip dislocation, Joi...	ORPHA:90349
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Pes planus, Ptosis, Genu recurvatum, Postnatal growth retardation, Hip ...	ORPHA:90348
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cutaneous syndactyly, Talipes calc...	OMIM:270400
Isolated Thyroid-Stimulating Hormone Deficiency	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Growth delay, Abnor...	ORPHA:90674
Menkes Disease	Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Micrognathia, Os...	ORPHA:565
Cornelia De Lange Syndrome	Proximal placement of thumb, Micromelia, Micrognathia, Short neck, Synophrys, Clinodactyly of the...	ORPHA:199
Ellis Van Creveld Syndrome	Micromelia, Capitate-hamate fusion, Genu valgum, Abnormal pelvic girdle bone morphology, Hand pol...	ORPHA:289
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Micromelia, Short neck, Hypertelorism, Long eyelashes, Palpebral thickening...	ORPHA:1675
Parietal Foramina 1	Wormian bones	OMIM:168500
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Limb joint contracture, Coxa valga, Lagophthalmos, Bilateral ptosis, ...	ORPHA:404454
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Craniosynostosis, Tapered finger, Micrognathia, Small hand, Severe postnatal gr...	OMIM:620005
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Vertebral compression fracture, Osteoporosis, Biconcave vertebral bodies	OMIM:219090
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Severe postnatal growth retardation, Short stature, Deeply set eye, Delayed cranial suture closure	OMIM:613038
C Syndrome	Joint dislocation, Sacral dimple, Toe syndactyly, Short stature, Talipes, Micromelia, Micrognathi...	ORPHA:1308
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Epicanthus, Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bone ossificatio...	ORPHA:93271
1P36 Deletion Syndrome	11 pairs of ribs, Abnormal eyebrow morphology, Epicanthus, Short stature, Camptodactyly of finger...	ORPHA:1606
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint dislocation, Microretrognathia, Joint laxity, Telecanthus, Arachnodactyly, Hypertelorism, G...	OMIM:601776
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Short stature, Multiple joint contractures, Struct...	ORPHA:464306
Peters Plus Syndrome	Sacral dimple, Toe syndactyly, Rhizomelia, Short stature, Micromelia, Micrognathia, Postnatal gro...	ORPHA:709
Schisis Association	Micromelia	ORPHA:63862
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Pes planus, Epicanthus, Elbow dislocation, Abnormal foot morphology, Osteoarth...	ORPHA:285
Pmm2-Cdg	Osteopenia, Joint laxity, Pes planus, Multiple joint contractures, Epicanthus, Kyphoscoliosis, Hy...	ORPHA:79318
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Micromelia, Short neck, Preaxial polydactyly, Short ribs	OMIM:616546
Multiple Myeloma	Osteopenia, Pathologic fracture, Vertebral compression fracture, Tall stature	ORPHA:29073
Pallister-Killian Syndrome	Congenital hip dislocation, Edema of the dorsum of feet, Micrognathia, Short neck, Flexion contra...	OMIM:601803
Medulloblastoma	Back pain, Delayed cranial suture closure	ORPHA:616
Cushing Disease	Decreased eosinophil count, Vertebral compression fracture, Osteoporosis, Pedal edema	ORPHA:96253
Cushing Syndrome Due To Ectopic Acth Secretion	Decreased eosinophil count, Vertebral compression fracture, Osteoporosis, Pedal edema	ORPHA:99889

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tmem53

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tmem53.

No publications found that use IMPC mice or data for Tmem53.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Tmem53^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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