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Gene: Hoxd11 MGI:96203

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
homeobox D11
Synonyms:
Hox-5.4,  Hox-4.6,  E230017H14Rik,  Hox-5.5

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 Hoxd11 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Hoxd11 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cervical Rib
Cervical ribs OMIM:117900
Symbrachydactyly Of Hands And Feet
Scoliosis, Abnormality of the humerus, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia o... ORPHA:1570
Acropectorovertebral Dysplasia
Short thumb, Capitate-hamate fusion, Finger syndactyly, Synostosis of carpal bones, Toe syndactyl... OMIM:102510
Distal Symphalangism
Camptodactyly of finger, Synostosis of carpal bones, Joint stiffness, Symphalangism affecting the... ORPHA:3248
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Abnormality of the vertebral column, Metaphyseal striations, Short metacarpal, Abnorm... OMIM:250460
Ulnar Hemimelia
Scoliosis, Abnormal calcification of the carpal bones, Aplasia of metacarpal bones, Abnormality o... ORPHA:93320
Epiphyseal Dysplasia, Multiple, 4
Scoliosis, Hip dysplasia, Short metacarpal, Limited elbow flexion, Double-layered patella, Hypopl... OMIM:226900
Multiple Synostoses Syndrome 2
Vertebral fusion, Proximal symphalangism, Finger symphalangism, Carpal synostosis, Humeroradial s... OMIM:610017
Congenital Radioulnar Synostosis
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... ORPHA:3269
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Toe syndactyly, Carpal synostosis, Metacarpal synostosis, Tar... OMIM:608180
Syndactyly, Type V
Short distal phalanx of finger, Camptodactyly of finger, Absent distal interphalangeal creases, 4... OMIM:186300
Brachydactyly, Type A1
Broad metacarpal epiphyses, Short distal phalanx of finger, Radial deviation of the 4th finger, R... OMIM:112500
Radioulnar Synostosis, Nonsyndromic, Susceptibility To
Radioulnar synostosis, Limited pronation/supination of forearm OMIM:179300
Banki Syndrome
Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal morphology, Clinodactyly of the 5t... ORPHA:1228
Pseudoachondroplasia
Scoliosis, Generalized joint laxity, Wind-swept deformity of the knees, Increased laxity of ankle... ORPHA:750
Osebold-Remondini Syndrome
Type A brachydactyly, Abnormality of the vertebral column, Decreased finger mobility, Hypoplasia ... OMIM:112910
Symphalangism, C. S. Lewis Type
Synostosis involving the 1st metacarpal OMIM:185650
Humeroradial Synostosis
Humeroradial synostosis OMIM:143050
Liebenberg Syndrome
2-3 finger syndactyly, Metaphyseal widening, Joint contracture of the 5th finger, Abnormal carpal... OMIM:186550
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Dumbbell-shaped humerus, Abnormality of the humerus, Abnormality of fibu... ORPHA:1836
Radial Hemimelia
Abnormality of the trapezium, Abnormality of the scaphoid, Aplasia of the 1st metacarpal, Abnorma... ORPHA:93321
Robin Sequence-Oligodactyly Syndrome
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Micrognathia, Abnormal morphology... ORPHA:3104
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal joint morphology, Abnormal metaphysis morphology, Short metatarsal, Osteoporosis, Short ... ORPHA:93351
Acromesomelic Dysplasia, Hunter-Thompson Type
Scoliosis, Hip dislocation, Bilateral single transverse palmar creases, Short thumb, Joint stiffn... ORPHA:968
Tarsal-Carpal Coalition Syndrome
Short finger, Proximal symphalangism of hands, Distal symphalangism of hands, Carpal synostosis, ... OMIM:186570
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Ankle pain, Generalized joint laxity, Joint stiffness, Ovoid vertebral bodi... OMIM:132400
Epiphyseal Dysplasia, Multiple, 7
Genu varum, Flat acetabular roof, Advanced ossification of carpal bones, Vertebral wedging, Monke... OMIM:617719
Syndactyly Type 5
Short distal phalanx of finger, Camptodactyly of finger, 3-4 finger syndactyly, Ulnar deviation o... ORPHA:93406
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Lumbar hyperlordosis, Short metatarsal, Capitate-hamate fusion, Short me... OMIM:271650
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... OMIM:118005
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed ossification of carpal bones, Delayed epiphyseal ossification, Short middle phalanx of fi... OMIM:182255
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Abnormal distal phalanx morphology of finger, Abnormality of the humerus, Joint stiffness, Aplasi... ORPHA:1275
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Symphalangism, Proximal, 1B
Abnormal finger flexion crease, Proximal/middle symphalangism of 5th finger, Clinodactyly of the ... OMIM:615298
Brachydactyly Type B
Short distal phalanx of finger, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Syno... ORPHA:93383
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Reduced bone mineral density, Genu varum, Delayed ossification of carpal bones, Platyspondyly, Ir... OMIM:617974
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Aplasia/Hypoplasia of the fibula, Abnormal thumb morp... ORPHA:2639
Proximal Symphalangism
Elbow ankylosis, Camptodactyly of finger, Proximal symphalangism, Abnormality of the wrist, Synos... ORPHA:3250
Metaphyseal Anadysplasia
Abnormal metaphysis morphology, Joint stiffness, Bowing of the long bones, Abnormal epiphysis mor... ORPHA:1040
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of fibula morphology, Abnormal metaphysis morphology, Abnormal form of the vertebral ... ORPHA:1837
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Delayed ossification of carpal bones, Short metacarpal, Broad femoral neck,... OMIM:607078
Wahab Syndrome
Camptodactyly, Short thumb, Short metacarpal, Syndactyly, Ankylosis, Adducted thumb, Short palm, ... OMIM:615170
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Short thumb, Finger syndactyly, Synostosis of carpal bones, Aplasia/Hypoplasia of the hallux, Toe... ORPHA:157801
Brachydactyly, Type C
Ulnar deviation of the 3rd finger, Enlarged epiphysis of the proximal phalanx of the 2nd finger, ... OMIM:113100
Brachydactyly, Type A1, D
Short distal phalanx of the 2nd finger, Short distal phalanx of the thumb, Aplasia/Hypoplasia of ... OMIM:616849
Symphalangism, Proximal, 1A
Proximal symphalangism of hands, Distal symphalangism of hands, Carpal synostosis, Metacarpophala... OMIM:185800
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Dwarfism With Tall Vertebrae
Increased vertebral height OMIM:126950
Pseudoachondroplasia
Short distal phalanx of finger, Scoliosis, Radial metaphyseal irregularity, Osteoarthritis, Irreg... OMIM:177170
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metatarsal, Rhizomelia, Short metacarpal, Deformed humeral heads, Platyspond... OMIM:601438
Craniosynostosis, Adelaide Type
Craniosynostosis, Hallux valgus, Carpal bone malsegmentation, Shortening of all distal phalanges ... OMIM:600593
Brachydactyly, Type A1, B
Short distal phalanx of finger, Type A brachydactyly, Broad distal hallux, Short middle phalanx o... OMIM:607004
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Steel Syndrome
Limited elbow extension, Scoliosis, Hip dislocation, Lumbar hyperlordosis, Dislocated radial head... OMIM:615155
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Coronal craniosynostosis, Hip dysplasia, Limb undergrowth, Capitate-hama... OMIM:614078
Brachydactyly, Type B2
Short distal phalanx of finger, Absent phalangeal crease, Aplasia/Hypoplasia of the distal phalan... OMIM:611377
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Short distal phalanx of finger, Short thumb, Proximal placement o... ORPHA:90650
Leri-Weill Dyschondrosteosis
Abnormality of the humerus, Scoliosis, Increased carrying angle, Short tibia, Dorsal subluxation ... OMIM:127300
Brachydactyly Type A2
Type A2 brachydactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short middle p... ORPHA:93396
Metacarpal 4-5 Fusion
4-5 metacarpal synostosis, Short 5th metacarpal, 2-3 toe cutaneous syndactyly, Clinodactyly of th... OMIM:309630
Brachydactyly Type B2
Short distal phalanx of finger, Finger syndactyly, Synostosis of carpal bones, Short toe, Short d... ORPHA:140908
Synostoses, Tarsal, Carpal, And Digital
Short metacarpal, Metacarpophalangeal synostosis, Carpal synostosis, Radial head subluxation, Apl... OMIM:186400
Multiple Synostoses Syndrome 3
Metatarsal synostosis, Hallux varus, Broad thumb, Humeroradial synostosis, Cubitus valgus, Limite... OMIM:612961
Acromicric Dysplasia
Ovoid vertebral bodies, Short phalanx of finger, Short metacarpal, Short long bone, Short palm, F... OMIM:102370
Talo-Patello-Scaphoid Osteolysis
Osteolysis of patellae, Osteolysis of scaphoids, Osteolysis of talus, Short 4th metacarpal, Enlar... ORPHA:50809
Symphalangism With Multiple Anomalies Of Hands And Feet
Short distal phalanx of hallux, Small thenar eminence, Aplasia/Hypoplasia of the distal phalanx o... ORPHA:3246
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Aplasia/Hypoplasia of the fibula, Abnormal carpal morphology, Mesomeli... ORPHA:2632
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Abnormal metacarpal morphology, Synostosis of carpals/tarsals OMIM:269630
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of patellae, Osteolysis of scaphoids, Short 4th metacarpal, Osteolysis of talus, Synov... OMIM:609655
Weismann-Netter Syndrome
Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, Sc... ORPHA:3344
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Short middle phalanx of the 5th finger, Multiple small vertebral fractures, Short ... OMIM:156510
Brachydactyly Type A1
Scoliosis, Short thumb, Broad metacarpals, Distal symphalangism of hands, Short middle phalanx of... ORPHA:93388
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Short metacarpal, Mesomelia, Postaxial hand polydactyly, Broad palm, Short foot, Brac... OMIM:611263
Paternal Uniparental Disomy Of Chromosome X
Infertility, Short metacarpal, Cubitus valgus, Short neck ORPHA:261524
Acromesomelic Dysplasia 2C
Single transverse palmar crease, Distal femoral bowing, Hip dislocation, Short thumb, Hypoplasia ... OMIM:201250
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Limb undergrowth, Coronal cleft vertebrae, Short tibia, Short 4th metacarpal, Short 3rd metacarpa... OMIM:118651
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Tarsal synostosis, Radial bowing OMIM:156232
Acromesomelic Dysplasia, Grebe Type
Joint stiffness, Short tibia, Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Aplasi... ORPHA:2098
Ophthalmomandibulomelic Dysplasia
Elbow dislocation, Camptodactyly of finger, Abnormality of bone mineral density, Synostosis of ca... ORPHA:2741
Mesomelic Dysplasia, Nievergelt Type
Camptodactyly of finger, Scoliosis, Abnormality of fibula morphology, Bilateral single transverse... ORPHA:2633
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short finger, Scoliosis, Joint stiffness, Hypoplastic inferior ilia, Metaphyseal cupping, Metaphy... OMIM:608940
Acromicric Dysplasia
Joint stiffness, Ovoid vertebral bodies, Short metacarpal, Abnormal epiphysis morphology, Short p... ORPHA:969
Brachydactyly Type A7
Medially deviated second toe, Broad distal phalanx of the thumb, Hallux valgus, Short middle phal... ORPHA:93397
Winchester Syndrome
Generalized osteoporosis, Arthropathy, Broad metacarpals, Kyphosis, Carpal osteolysis, Osteolysis... OMIM:277950
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Abnormal morphology of ulna, Synostosis of carpal bones, Micromelia, R... ORPHA:2634
Metaphyseal Chondrodysplasia, Schmid Type
Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr... ORPHA:174
Dysspondyloenchondromatosis
Scoliosis, Abnormality of fibula morphology, Generalized joint laxity, Joint dislocation, Anisosp... ORPHA:85198
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Scoliosis, Lumbar hyperlordosis, Irregular vertebral endplates, Fla... OMIM:609616
Spondyloperipheral Dysplasia
Short distal phalanx of finger, Short distal phalanx of the 2nd finger, Short thumb, Rhizomelic l... OMIM:271700
Postaxial Oligodactyly, Tetramelic
Postaxial oligodactyly, Single transverse palmar crease, Postaxial foot polydactyly, Absent fifth... OMIM:176240
Epiphyseal Dysplasia, Multiple, 3
Epiphyseal dysplasia, Limited elbow extension, Abnormal hip joint morphology, Short metacarpal, O... OMIM:600969
Heart-Hand Syndrome Type 2
Abnormality of the humerus, Hand polydactyly, Joint stiffness, Hemiatrophy, Aplasia/Hypoplasia of... ORPHA:1350
Hypertension And Brachydactyly Syndrome
Type E brachydactyly, Short phalanx of finger, Short metacarpal, Cone-shaped epiphysis OMIM:112410
Otopalatodigital Syndrome, Type I
Short distal phalanx of finger, Scoliosis, Hip dislocation, Abnormality of the fifth metatarsal b... OMIM:311300
Ring Chromosome 4 Syndrome
Abnormal morphology of ulna, Abnormality of the upper limb, Split hand, Aplasia/Hypoplasia of the... ORPHA:1447
Chromosome 2Q35 Duplication Syndrome
3-4 finger syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 2-3 toe syndactyly, S... OMIM:185900
Multiple Epiphyseal Dysplasia Type 4
Scoliosis, Hip dysplasia, Short thumb, Metatarsal synostosis, Flattened epiphysis, Short metatars... ORPHA:93307
Acromesomelic Dysplasia 3
Short finger, Aplasia of the proximal phalanx of the 2nd finger, Bilateral talipes equinovarus, L... OMIM:609441
Tibial Torsion, Bilateral Medial
Scoliosis, Bowing of the legs, Tibial torsion OMIM:188800
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormality of the elbow, Micromelia, Humeroradial synostosis, ... ORPHA:2019
Boomerang Dysplasia
Abnormality of the humerus, Aplasia/Hypoplasia of the fibula, Poorly ossified vertebrae, Finger s... ORPHA:1263
Spondylometaphyseal Dysplasia, Corner Fracture Type
Scoliosis, Hyperconvex vertebral body endplates, Genu varum, Ovoid vertebral bodies, Corner fract... OMIM:184255
Léri-Weill Dyschondrosteosis
Abnormality of the humerus, Short tibia, Micromelia, Dorsal subluxation of ulna, Madelung deformi... ORPHA:240
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot OMIM:313350
Rhizomelic Dysplasia, Patterson-Lowry Type
Deviation of finger, Short humerus, Abnormal form of the vertebral bodies, Rhizomelia, Short meta... ORPHA:2831
Acromesomelic Dysplasia 1
Thoracolumbar interpediculate narrowness, Short metatarsal, Acromesomelia, Broad finger, Short to... OMIM:602875
Sugarman Brachydactyly
Double first metacarpals, Proximal placement of hallux, Symphalangism affecting the proximal phal... OMIM:272150
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Hallux valgus, Toe syndactyly, Short middle phalanx of the 5th finger, Sh... ORPHA:93409
Primary Basilar Invagination
Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck ORPHA:2285
Odontochondrodysplasia 1
Scoliosis, Metaphyseal cupping, Irregular epiphyses, Micromelia, Flared iliac wing, Biconvex vert... OMIM:184260
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flared femoral metaphysis, Flat distal femoral epiphysis, Abnormality of the hand, Broad femoral ... OMIM:609324
Spondylometaphyseal Dysplasia, Kozlowski Type
Scoliosis, Irregular acetabular roof, Flared iliac wing, Halberd-shaped pelvis, Enlarged joints, ... OMIM:184252
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Bilateral coxa valga, Abnormality of the knee, Abnormal ilium morphology, Platyspondyly, Restrict... ORPHA:163665
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormal metaphysis morphology, Abnormal diaphysis morphology, Coarse metaph... ORPHA:2779
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short distal phalanx of finger, Short thumb, Hallux varus, Short metatarsal, Short metacarpal, Sh... OMIM:112450
Cardiospondylocarpofacial Syndrome
Abnormal form of the vertebral bodies, Synostosis of carpal bones, Short palm, Brachydactyly ORPHA:3238
Spondylocostal Dysostosis 6, Autosomal Recessive
Scoliosis, Butterfly vertebrae, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis OMIM:616566
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abn... ORPHA:2064
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Camptodactyly of finger, Finger syndactyly, Synostosis of carpal ... ORPHA:957
Epiphyseal Dysplasia, Multiple, 6
Irregular vertebral endplates, Flat distal femoral epiphysis, Abnormality of the knee, Schmorl's ... OMIM:614135
Smith-Mccort Dysplasia 1
Scoliosis, Genu varum, Short neck, Multicentric femoral head ossification, Hypoplastic scapulae, ... OMIM:607326
Ivic Syndrome
Short 1st metacarpal, Scoliosis, Small thenar eminence, Absent thumb, Short thumb, Preaxial polyd... OMIM:147750
Ruvalcaba Syndrome
Limited elbow extension, Scoliosis, Short metatarsal, Short phalanx of finger, Short metacarpal, ... OMIM:180870
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Short neck, Abnormal metacarpal morphology, Decreased fertility, Abnormal morpholog... ORPHA:2233
Smith-Mccort Dysplasia 2
Broad metatarsal, Limited elbow extension, Short neck, Flattened epiphysis, Short metatarsal, Fla... OMIM:615222
Syndactyly Type 2
Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly... ORPHA:93403
Holt-Oram Syndrome
Aplasia of the ulna, Short humerus, Limited elbow extension, Aplasia of the pectoralis major musc... OMIM:142900
Langer Mesomelic Dysplasia
Lumbar hyperlordosis, Hypoplasia of the radius, Short tibia, Mesomelia, Micrognathia, Short femor... OMIM:249700
Exostoses, Multiple, Type Ii
Madelung-like forearm deformities, Pelvic bone exostoses, Short metacarpal, Protuberances at ends... OMIM:133701
Exostoses, Multiple, Type I
Madelung-like forearm deformities, Pelvic bone exostoses, Short metacarpal, Protuberances at ends... OMIM:133700
Acrocapitofemoral Dysplasia
Short distal phalanx of finger, Scoliosis, Short tibia, Small finger, Micromelia, Flared iliac wi... OMIM:607778
Humero-Radio-Ulnar Synostosis
Elbow ankylosis, Aplasia/Hypoplasia of the thumb, Abnormal metacarpal morphology, Radioulnar syno... ORPHA:3266
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger ORPHA:71289
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Genu varum, Metaphyseal cupping, Flattened epiphysis, Pear-shaped verteb... OMIM:602111
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Camptodactyly of finger, Scoliosis, Joint stiffness, Finger syndactyly, Synostosis of carpal bone... ORPHA:1323
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Osseous finger syndactyly, Short distal phalanx of t... ORPHA:370010
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia
Radioulnar synostosis, Dislocated radial head OMIM:266255
Spondylometaphyseal Dysplasia, Kozlowski Type
Short distal phalanx of finger, Scoliosis, Short greater sciatic notch, Absent epiphyses of the p... ORPHA:93314
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Abnormality of fibula morphology, Synostosis of carpal bones, Aplasia/Hypoplasi... ORPHA:988
Multiple Synostoses Syndrome 1
Lower limb undergrowth, Absent distal phalanges, Carpal synostosis, Short hallux, Single transver... OMIM:186500
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Scoliosis, Large joint dislocations, Flattened epiphysis, Irregular epiphyses, Posterior scallopi... OMIM:603546
Brachydactyly, Type A1, C
Short middle phalanx of the 4th finger, Short distal phalanx of finger, Bilateral talipes equinov... OMIM:615072
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Joint stiffness, Short thumb, Short metatarsal, Short metacarpal, Broad metacarpal... OMIM:151200
Fibular Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna, Split hand ORPHA:1118
Brachyolmia Type 1, Hobaek Type
Scoliosis, Short neck, Flat acetabular roof, Sclerotic foci of metaphyses of the elbow, Short ili... OMIM:271530
Synpolydactyly 1
Postaxial foot polydactyly, 2nd-5th toe middle phalangeal hypoplasia, 3-4 finger syndactyly, Y-sh... OMIM:186000
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Scoliosis, Hip dislocation, Generalized joint laxity, Metaphyseal irregularity, Radial head sublu... ORPHA:93360
Chst3-Related Skeletal Dysplasia
Scoliosis, Abnormal form of the vertebral bodies, Rhizomelia, Abnormality of the elbow, Short met... ORPHA:263463
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Finger syndactyly, Abnormality of the elbow, Radioulnar synostosis, Delayed skeletal m... ORPHA:3268
Hypochondroplasia
Scoliosis, Abnormal metaphysis morphology, Genu varum, Abnormal form of the vertebral bodies, Bow... ORPHA:429
Seckel Syndrome 7
Hip dysplasia, Primary amenorrhea, Lumbar scoliosis, Short middle phalanx of the 5th finger, Made... OMIM:614851
Ruvalcaba Syndrome
Scoliosis, Proximal placement of thumb, Abnormality of the elbow, Short metacarpal, Synostosis of... ORPHA:3121
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Genu varum, Metaphyseal cupping, Hypoplastic scapulae, Platyspond... ORPHA:85166
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Heyn-Sproul-Jackson Syndrome
Short metacarpal, Broad metacarpals, 11 pairs of ribs, Broad phalanx, Short phalanx of finger OMIM:618724
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Hip dislocation, Short neck, Irregular vertebral endplates, Delayed ossification of ca... OMIM:618395
Brachydactyly Type E
Type E brachydactyly, Short distal phalanx of finger, Short metatarsal, Short metacarpal, Joint h... ORPHA:93387
Czech Dysplasia
Scoliosis, Thoracic kyphosis, Irregular vertebral endplates, Short metatarsal, Short metacarpal, ... OMIM:609162
Eiken Syndrome
Epiphyseal dysplasia, Abnormal bone ossification, Abnormal fingertip morphology, Delayed epiphyse... ORPHA:79106
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Abnormal form of the vertebral bodies, Abnormal pelvic girdle bon... ORPHA:1802
Trichorhinophalangeal Syndrome, Type Iii
Short finger, Scoliosis, Accelerated bone age after puberty, Avascular necrosis of the capital fe... OMIM:190351
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Camptodactyly, Finger syndactyly, Syndactyly, Short digit, Short phalanx of finger,... OMIM:610713
Familial Digital Arthropathy-Brachydactyly
Short distal phalanx of finger, Short middle phalanx of finger, Osteoarthritis of the small joint... ORPHA:85169
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Carpal synostosis, Abnormality of the wrist, Tarsal synostosis, Abnormality of the ankle ORPHA:2010
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal chondrodysplasia, Short lower limbs, Scoliosis, Abnormal metaphysis morphology, Hip d... ORPHA:2501
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Platyspondyly, Coxa valga, Short greater sciatic notch, Anterior beaking of lumbar vertebrae OMIM:271620
Temtamy Preaxial Brachydactyly Syndrome
Short metatarsal, Syndactyly, Short metacarpal, Carpal synostosis, Radioulnar synostosis, Clinoda... OMIM:605282
Mesomelia-Synostoses Syndrome
Abnormality of the humerus, Ulnar deviation of finger, Joint stiffness, Abnormality of the knee, ... ORPHA:2496
Pfeiffer Syndrome
Hip dysplasia, Short neck, Finger syndactyly, Synostosis of carpal bones, Clinodactyly of the 5th... ORPHA:710
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thoracic kyphosis, Rhizomelia, Short 4th metacarpal, Wormian bones, Platyspondyly, Broad thumb, S... OMIM:619638
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad long bones, Flared iliac wing, Metaphyseal irregularity, Cone-shaped epiphyses of the phala... OMIM:300106
Digital Arthropathy-Brachydactyly, Familial
Short distal phalanx of finger, Short middle phalanx of finger, Brachytelomesophalangy, Short dis... OMIM:606835
Cenani-Lenz Syndrome
Oligodactyly, Foot oligodactyly, Scoliosis, Hip dislocation, Short thumb, Finger syndactyly, Syno... ORPHA:3258
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short finger, Short toe, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology OMIM:259270
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Bilateral talipes equinovarus, Limb undergrowth, Mesomelia, Wormian bones, Platyspondyly, Shorten... OMIM:601356
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Hypoplastic ilia, Hip dislocation, Hip dysplasia, Cervical spine instability, Advanced ossificati... OMIM:615349
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Joint stiffness, Ovoid vertebral bodies, Abnormal form of the vertebral bodies, Bowing... ORPHA:40
Symphalangism, Distal
Craniosynostosis, Distal foot symphalangism, Absent dorsal skin creases over affected joints, Dis... OMIM:185700
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Camptodactyly of finger, Irregular vertebral endplates, Flattened epiphysis, Short phalanx of fin... OMIM:612350
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Iliac crest serration, Multicentric ossification of proximal humeral... OMIM:223800
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Ivic Syndrome
Scoliosis, Joint stiffness, Short thumb, Synostosis of carpal bones, Aplastic clavicle, Radioulna... ORPHA:2307
Acromesomelic Dysplasia 2B
Deviation of finger, Absent toe, Short metatarsal, Rhizomelia, Short metacarpal, Patellar disloca... OMIM:228900
Talonavicular Coalition
Proximal/middle symphalangism of 5th finger, Foot pain, Short hallux, Coalescence of tarsal bones... OMIM:186750
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Scoliosis, Hip dislocation, Hip dysplasia, Knee dislocation, Hammertoe ORPHA:370943
Parastremmatic Dwarfism
Scoliosis, Short neck, Kyphosis, Flexion contracture, Genu valgum, Bowing of the long bones OMIM:168400
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Metaphyseal sclerosis, Ovoid vertebral bodies, Metaphyseal widening... OMIM:609052
Tetrasomy X
Premature ovarian insufficiency, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synost... ORPHA:9
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip dysplasia, Abnormality of the hand, Flattened femoral head, Hump-shaped mound of bone in cent... ORPHA:99642
Frontometaphyseal Dysplasia 1
Cervical C2/C3 vertebral fusion, Camptodactyly of finger, Scoliosis, Carpal synostosis, Interphal... OMIM:305620
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Ectrodactyly, Syndactyly, Aplasia/Hypoplasia of the phala... OMIM:605289
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Short metatarsal, Short metacarpal, Micrognathia, Broad thumb, Preaxial hand po... ORPHA:1278
Otospondylomegaepiphyseal Dysplasia
Abnormal joint morphology, Abnormal long bone morphology, Osteoarthritis, Enlarged joints, Short ... ORPHA:1427
Hand-Foot-Genital Syndrome
Short distal phalanx of finger, Short thumb, Proximal placement of thumb, Hallux varus, Synostosi... ORPHA:2438
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Craniosynostosis, Camptodactyly, Scoliosis, Vertebral fusion, Arthrogryposis multiplex congenita,... OMIM:178110
Acrorenal Syndrome
Micrognathia, Abnormal morphology of ulna, Abnormality of tibia morphology, Split hand, Aplasia/H... ORPHA:971
Spondylocarpotarsal Synostosis Syndrome
Scoliosis, Carpal synostosis, Bowed humerus, Delayed skeletal maturation, Brachydactyly, Coxa var... OMIM:272460
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Spondylometaphyseal Dysplasia, Algerian Type
Lumbar hyperlordosis, Short greater sciatic notch, Hypoplasia of proximal radius, Flared femoral ... OMIM:184253
Metaphyseal Dysplasia, Braun-Tinschert Type
Scoliosis, Broad long bones, Broad femoral head, Broad radial metaphysis, Sclerosis of middle fin... ORPHA:85188
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Aplasia of metacarpal bones... OMIM:610797
Angel-Shaped Phalangoepiphyseal Dysplasia
Hyperextensibility of the finger joints, Delayed ossification of carpal bones, Pseudoepiphyses of... OMIM:105835
Acromesomelic Dysplasia 4
Prominent deltoid tuberosities, Short metatarsal, Rhizomelia, Broad finger, Short toe, Metaphysea... OMIM:619636
Obsolete: Congenital Bowing Of Long Bones-Short Stature-Dolichomacrocephaly-Ocular Hypertelorism Syndrome
Hyperlordosis, Bowing of the long bones ORPHA:2292
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short toe, Cuboid-shaped vertebral bodies, Anterior scalloping of vertebral bodies, Small epiphys... OMIM:611717
Vertebral Hypoplasia With Lumbar Kyphosis
Lumbar kyphosis, Vertebral hypoplasia OMIM:192900
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Type E brachydactyly, Limited elbow extension, Hip dysplasia, Abnormal hip joint morphology, Ovoi... ORPHA:1856
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Delayed ossification of carpal bones, Kyphosis, Short femoral neck,... OMIM:618392
Acrodysostosis
Abnormal morphology of ulna, Abnormal form of the vertebral bodies, Hypogonadism, Short metatarsa... ORPHA:950
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Hip dislocation, Joint stiffness, Finger syndactyly, Synostosis of carpal bones, Kypho... ORPHA:1005
Anauxetic Dysplasia 3
Metaphyseal cupping, Short metacarpal, Short middle phalanx of finger, Thoracolumbar kyphoscolios... OMIM:618853
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... OMIM:228930
Sheldon-Hall Syndrome
Ulnar deviation of the wrist, Scoliosis, Ulnar deviation of finger, Bilateral single transverse p... ORPHA:1147
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Epiphyseal dysplasia, Hip dislocation, Ivory epiphyses of the toes, Irregular vertebral endplates... OMIM:226980
Osteoarthritis With Mild Chondrodysplasia
Knee osteoarthritis, Joint stiffness, Irregular vertebral endplates, Schmorl's node, Platyspondyl... OMIM:604864
Brachydactylous Dwarfism, Mseleni Type
Osteoarthritis of the elbow, Knee osteoarthritis, Joint subluxation, Stiff shoulders, Abnormality... ORPHA:2619
Mesomelia-Synostoses Syndrome
Distal femoral bowing, Ulnar deviation of the hand, Short metatarsal, Carpometacarpal synostosis,... OMIM:600383
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip dislocation, Pathologic fracture, Advanced ossification of carpal bones, Delayed proximal fem... OMIM:271640
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Reduced bone mineral density, Scoliosis, Hip dysplasia, Abnormal metaphysis morphology, Abnormal ... ORPHA:2370
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Short humerus, Asymmetric radial dysplasia, Elbow dislocation, Absent radius, Genu varum, Phocome... OMIM:171480
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Supernumerary vertebrae, Short thumb, Syndactyly, Radioulnar synostos... OMIM:263750
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Proximal femoral epiphysiolysis, Flattened femoral head, Tibial metaphyseal i... ORPHA:457395
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Abnormal metaphysis morphology, Platyspondyly ORPHA:93304
Muenke Syndrome
Clinodactyly, Coronal craniosynostosis, Thimble-shaped middle phalanges of hand, Capitate-hamate ... OMIM:602849
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Lumbar hyperlordosis, Thoracic kyphosis, Genu varum, Irregular vertebral endplates, Br... OMIM:609223
Peripheral Dysostosis
Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger OMIM:170700
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short neck, Short 4th metacarpal, Hypergonadotropic hypogonadism, Azoospermia, Cubitus valgus ORPHA:2183
Brachydactyly-Nystagmus-Cerebellar Ataxia
Short metatarsal, Short metacarpal, Brachydactyly OMIM:113400
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Delayed skeletal maturation, Short metacarpal, Short thumb ORPHA:2489
Juberg-Hayward Syndrome
Limited elbow extension, Abnormal toe morphology, Aplasia/Hypoplasia of the thumb, Abnormality of... OMIM:216100
Microphthalmia With Limb Anomalies
Single transverse palmar crease, Foot oligodactyly, Postaxial foot polydactyly, Hip dislocation, ... OMIM:206920
Acromegaloid Facial Appearance Syndrome
Tapered finger, Joint hypermobility, Short 5th metacarpal, Micrognathia, Large hands OMIM:102150
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Abnormal metaphysis morphology, Abnormal hip bone morphology, Mesomelia,... ORPHA:2631
Dyggve-Melchior-Clausen Disease
Rhizomelia, Atlantoaxial instability, Iliac crest serration, Limited knee extension, Abnormal fem... ORPHA:239
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Cervical instability, Laryngotracheomalacia, Delayed ossification of carpal bones, Platyspondyly,... ORPHA:93346
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Craniosynostosis, Limited elbow extension, Scoliosis, Narrow pelvis bone, Short neck, Overlapping... OMIM:616723
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Short distal phalanx of finger, Absent trapezoid bone, Distal foot symphalangism, Absent trapeziu... OMIM:606895
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Large tarsal bones, Aplasia/Hypoplasia of the capital femoral epiphysis, Lumbar hyperlordosis, Co... OMIM:215150
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Brachydactyly ORPHA:35099
Aase-Smith Syndrome
Camptodactyly of finger, Scoliosis, Joint stiffness, Abnormal hip bone morphology, Slender finger... ORPHA:916
Spondyloepiphyseal Dysplasia, Stanescu Type
Stiff neck, Hypoplastic ilia, Joint stiffness, Vertebral wedging, Coxa valga, Internal tibial tor... OMIM:616583
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Hip dysplasia, Rhizomelia, Wide distal femoral metaphysis, Short femur, Short femo... OMIM:619598
Hip Dysplasia, Beukes Type
Scoliosis, Hip dysplasia, Abnormality of bone mineral density, Kyphosis, Broad femoral neck, Abno... ORPHA:2114
Acrodysostosis 2 With Or Without Hormone Resistance
Short metatarsal, Advanced ossification of carpal bones, Short phalanx of finger, Short metacarpa... OMIM:614613
Brachydactyly, Type E2
Short metatarsal, Short metacarpal, Brachydactyly OMIM:613382
49,Xyyyy Syndrome
Scoliosis, Generalized joint laxity, Abnormality of the epiphyses of the elbow, Finger clinodacty... ORPHA:99330
Acrodysplasia Scoliosis
Scoliosis, Spina bifida occulta, Vertebral segmentation defect, Brachydactyly ORPHA:2956
Acromesomelic Dysplasia 2A
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Acromesomelia, A... OMIM:200700
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal metacarpophalangeal joint morphology, Hip dysplasia, Osteoarthritis, Flattened femoral h... ORPHA:166011
Osteogenesis Imperfecta, Type V
Limited pronation/supination of forearm, Hyperextensibility at elbow, Vertebral wedging, Wormian ... OMIM:610967
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal chondrodysplasia, Short distal phalanx of finger, Scoliosis, Irregular acetabular roo... OMIM:156500
Solitary Bone Cyst
Lytic defects of the radius, Pathologic fracture, Bone pain, Abnormal ilium morphology, Abnormal ... ORPHA:83468
Brachyolmia Type 2
Platyspondyly OMIM:613678
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Postaxial oligodactyly, Aplasia/Hypoplasia of the fibula, Short 5th finger, Aplasia/Hypoplasia of... ORPHA:52056
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Desbuquois Dysplasia 2
Hip dislocation, Advanced ossification of carpal bones, Broad thumb, Knee dislocation, Radial hea... OMIM:615777
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short finger, Clinodactyly of the 5th finger, Short toe, Short 5th metacarpal, Brachydactyly OMIM:604381
Prenatal Bowing
Bowing of the long bones OMIM:264050
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Ectrodactyly, Bifid femur, Hand monodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Metaphyseal cupping, Rhizomelia, Joint dislocation, Bowed humerus, Metaphyseal irregularity, Shor... OMIM:618019
Subaortic Stenosis-Short Stature Syndrome
Scoliosis, Short neck, Synostosis of carpal bones, Kyphosis, Micrognathia, Bilateral single trans... ORPHA:3191
Cenani-Lenz Syndactyly Syndrome
Scoliosis, Syndactyly, Micrognathia, Hemivertebrae, Radioulnar synostosis, Broad hallux, Hypoplas... OMIM:212780
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Metaphyseal spurs, Hypoplastic ilia, Scoliosis, Ivory epiphyses, Ovoid vertebral bodies, Femoral ... ORPHA:85167
Multiple Metaphyseal Dysplasia
Short distal phalanx of finger, Abnormal metaphysis morphology, Abnormal hip bone morphology, Apl... ORPHA:93430
Atelosteogenesis, Type Iii
Elbow dislocation, Tombstone-shaped proximal phalanges, Scoliosis, Widened distal phalanges, Shor... OMIM:108721
Pseudopseudohypoparathyroidism
Short neck, Osteoporosis, Short metatarsal, Short metacarpal, Brachydactyly OMIM:612463
Brachydactyly Type C
Ulnar deviation of finger, Short metatarsal, Aplasia/Hypoplasia of the 1st metacarpal, Type C bra... ORPHA:93384
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Abnormal hand morphology, Short digit, Short 5th metacarpal, Clinodactyly of the 5th finger ORPHA:228190
Atelosteogenesis, Type Ii
Scoliosis, Lumbar hyperlordosis, Dumbbell-shaped femur, Short greater sciatic notch, Short neck, ... OMIM:256050
Progressive Pseudorheumatoid Arthropathy Of Childhood
Scoliosis, Vertebral wedging, Irregular acetabular roof, Abnormal shoulder morphology, Irregulari... ORPHA:1159
Microcephaly, Short Stature, And Limb Abnormalities
Patellar aplasia, Dislocated radial head, Short metacarpal, Patellar hypoplasia, Mesomelia, Clino... OMIM:617604
Microphthalmia With Limb Anomalies
Hip dislocation, Short tibia, Abnormality of the upper limb, Toe syndactyly, Broad thumb, Bilater... ORPHA:1106
Codas Syndrome
Scoliosis, Congenital hip dislocation, Abnormal form of the vertebral bodies, Coronal cleft verte... ORPHA:1458
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Scoliosis, Lumbar hyperlordosis, Joint stiffness, Short thumb, Ov... OMIM:618167
Waardenburg Syndrome, Type 3
Camptodactyly of finger, Scapular winging, Carpal synostosis, Clinodactyly, Cutaneous finger synd... OMIM:148820
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormal patella morphology, Bilateral coxa valga, Genu varum, Limb undergrowth, Abnormality of t... ORPHA:166002
Roifman Syndrome
Irregular vertebral endplates, Short digit, Short metacarpal, Irregular femoral epiphysis, Brachy... OMIM:616651
Distal Arthrogryposis Type 1
Camptodactyly of finger, Ulnar deviation of finger, Joint stiffness, Abnormal hip bone morphology... ORPHA:1146
Fibular Hemimelia
Oligodactyly, Short tibia, Increased laxity of ankles, Toe syndactyly, Short toe, Fibular aplasia... ORPHA:93323
Muenke Syndrome
Coronal craniosynostosis, Carpal synostosis, Cone-shaped epiphysis, Short palm, Tarsal synostosis... ORPHA:53271
Summitt Syndrome
Craniosynostosis, Camptodactyly of finger, Prominent metopic ridge, Finger syndactyly, Short 4th ... ORPHA:3210
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Irregular vertebral endplates, Coronal cleft vertebrae, Flattened epiphysis, Advanced ... OMIM:618363
Obsolete: Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Hip dislocation, Hip dysplasia, Increased susceptibility to fractures, Kyphoscoliosis,... ORPHA:93359
Syndactyly, Type Iv
Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac... OMIM:186200
Atelosteogenesis Type Ii
Increased femoral anteversion, Rhizomelia, Micromelia, Hypoplastic cervical vertebrae, Short phal... ORPHA:56304
Microcephalic Primordial Dwarfism, Dauber Type
Hip dysplasia, Primary amenorrhea, Limb undergrowth, Lumbar scoliosis, Short middle phalanx of th... ORPHA:319675
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral
Duplication of the distal phalanx of the 5th finger, Short metacarpal, Abnormal metacarpal morpho... ORPHA:973
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Scoliosis, Lumbar scoliosis, Advanced ossification of carpal bones, Coxa valga, Knee dislocation,... OMIM:620269
Anauxetic Dysplasia 1
Short finger, Limited elbow extension, Hypoplastic ilia, Lumbar hyperlordosis, Thoracic kyphosis,... OMIM:607095
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Type E brachydactyly, Short metatarsal, Short 4th metacarpal OMIM:113301
Saul-Wilson Syndrome
Enlarged epiphyses, Hypoplasia of proximal fibula, Short distal phalanx of finger, Irregular vert... OMIM:618150
Kyphomelic Dysplasia
Short humerus, Dumbbell-shaped humerus, Flat acetabular roof, Short metacarpal, Ulnar bowing, Mic... OMIM:211350
Larsen Syndrome
Craniosynostosis, Short distal phalanx of finger, Scoliosis, Laryngotracheomalacia, Large joint d... ORPHA:503
Desbuquois Dysplasia 1
Scoliosis, Partial duplication of the distal phalanx of the hallux, Flattened epiphysis, Short me... OMIM:251450
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Short lower limbs, Genu varum, Flattened epiphysis, Pear-shaped vertebrae, M... ORPHA:93356
Metatropic Dysplasia
Scoliosis, Relatively short spine, Anisospondyly, Flared iliac wing, Halberd-shaped pelvis, Metap... OMIM:156530
Waardenburg Syndrome Type 3
Camptodactyly of finger, Tracheomalacia, Joint stiffness, Abnormal finger morphology, Synostosis ... ORPHA:896
Leri Pleonosteosis
Camptodactyly of finger, Scoliosis, Abnormal metaphysis morphology, Joint stiffness, Abnormal for... ORPHA:2900
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Camptodactyly of finger, Scoliosis, Short thumb, Preaxial polydac... ORPHA:90652
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
3-4 finger syndactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypopl... OMIM:609432
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Absent phalangeal crease, Scoliosis, Short neck, Talipes equinovarus, F... OMIM:618469
Anonychia-Ectrodactyly
Aplasia of metacarpal bones, Split hand OMIM:106900
Spondylosis, Cervical
Spondylolysis, Spondylolisthesis, Spina bifida occulta, Cervical spondylosis OMIM:184300
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metacarpal heads, Osteoarthritis, Platyspondyly, Flattened metatarsal heads, Hip osteoa... OMIM:271600
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip dysplasia, Abnormal epiphysis morphology, Short middle phalanx of finger, Short middle phalan... ORPHA:63442
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Short thumb, Patellar dislocation, Carpal synostosis, Fibular aplasia, Broad thu... OMIM:274000
Trichorhinophalangeal Syndrome Type 1
Short distal phalanx of finger, Camptodactyly of finger, Scoliosis, Avascular necrosis of the cap... ORPHA:77258
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormality of femur morphology, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormality... ORPHA:2141
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Scoliosis, Metaphyseal cupping, Metaphyseal irregularity, Coxa vara, Brachydactyly, Metaphyseal w... OMIM:250420
Multiple Epiphyseal Dysplasia Type 5
Ankle pain, Hip dysplasia, Genu varum, Abnormal hip joint morphology, Avascular necrosis of the c... ORPHA:93311
Thoracomelic Dysplasia
Abnormality of fibula morphology, Abnormal metaphysis morphology, Short neck, Limb undergrowth, S... ORPHA:1803
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Slender finger, Contracture of... OMIM:609813
Marinesco-Sjogren Syndrome
Scoliosis, Short metatarsal, Coxa valga, Short metacarpal, Kyphosis, Hypergonadotropic hypogonadi... OMIM:248800
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Postaxial polydactyly, Limb undergrowth, Fl... OMIM:617102
Sillence Syndrome
Scoliosis, Broad thumb, Brachydactyly, Broad metatarsal, Camptodactyly, Flat acetabular roof, Lar... ORPHA:3168
Tukel Syndrome
Postaxial oligodactyly, Carpal synostosis, Syndactyly, Carpal bone aplasia OMIM:609428
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short distal phalanx of finger, Camptodactyly of finger, Scoliosis, Flattened epiphysis, Rhizomel... OMIM:143095
Brachyolmia, Maroteaux Type
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Axial Spondylometaphyseal Dysplasia
Scoliosis, Acromesomelia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Thoracic s... ORPHA:168549
Atelosteogenesis, Type I
Clubbing, Short metatarsal, Rhizomelia, Multinucleated giant chondrocytes in epiphyseal cartilage... OMIM:108720
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Oligodactyly, Camptodactyly, 3-4 finger syndactyly, Absent tibia, Absent toe, Short tibia, Short ... OMIM:612576
Spondylometaphyseal Dysplasia, Sedaghatian Type
Metaphyseal cupping, Rhizomelia, Short toe, Metaphyseal irregularity, Flared iliac wing, Iliac cr... OMIM:250220
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Abnormality of the ankle ORPHA:1412
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Aplasia/Hypoplasia of the fibula, Brachydactyly, Fibular aplasia, Short phalanx of finger, Split ... OMIM:113310
Osteogenesis Imperfecta, Type Viii
Scoliosis, Short metacarpal, Kyphosis, Slender long bone, Vertebral compression fracture, Platysp... OMIM:610915
Kuskokwim Syndrome
Scoliosis, Joint stiffness, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the patella, ... ORPHA:1149
Desbuquois Syndrome
Camptodactyly of finger, Scoliosis, Abnormal metaphysis morphology, Short neck, Coxa valga, Genu ... ORPHA:1425
Dysplasia Epiphysealis Hemimelica
Joint stiffness, Genu varum, Bone pain, Osteoarthritis, Abnormal epiphysis morphology, Irregular ... ORPHA:1822
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Metaphyseal spurs, Limited elbow extension, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphy... OMIM:608728
Acheiropody
Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m... OMIM:200500
Vertebral Hypersegmentation And Orofacial Anomalies
Six lumbar vertebrae, Scapular winging, Supernumerary ribs, Micrognathia, Joint hypermobility OMIM:619122
Multiple Osteochondromas
Femoroacetabular impingement, Deformed forearm bones, Abnormal morphology of ulna, Neuropathic sp... ORPHA:321
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex of long bones, ... OMIM:144750
Syndactyly Type 4
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Li... ORPHA:93405
Tarsal Coalition
Tarsal synostosis OMIM:186850
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormality of the vertebral column, Palmoplantar keratoderma, Abnormal pelvis bone morphology, O... ORPHA:2206
Pde4D Haploinsufficiency Syndrome
Broad metatarsal, Bilateral coxa valga, Irregular vertebral endplates, Short metatarsal, Short ph... ORPHA:439822
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Lumbar scoliosis, Lower limb undergrowth, Platyspondyly, Secondary... OMIM:612847
Brachydactyly, Type E1
Type E brachydactyly, Short metatarsal, Short metacarpal, Short clavicles, Brachydactyly OMIM:113300
Linear Verrucous Nevus Syndrome
Reduced bone mineral density, Scoliosis, Short metacarpal, Genu recurvatum, Toe syndactyly ORPHA:2611
Acrofacial Dysostosis, Rodríguez Type
Abnormal form of the vertebral bodies, Finger syndactyly, Abnormal pelvic girdle bone morphology,... ORPHA:1788
Juberg-Hayward Syndrome
Scoliosis, Short thumb, Abnormal finger morphology, Abnormality of the elbow, Abnormality of the ... ORPHA:2319
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Hip dislocation, Absent radius, Genu varum, Phocomelia, Coxa valga, Finger syndactyly,... ORPHA:3320
Spondylometaphyseal Dysplasia, Schmidt Type
Scoliosis, Hip dysplasia, Abnormal metaphysis morphology, Irregular iliac crest, Abnormality of t... ORPHA:93316
Osteogenesis Imperfecta, Type Vi
Vertebral compression fracture, Protrusio acetabuli, Beaking of vertebral bodies, Joint laxity, I... OMIM:613982
Frontometaphyseal Dysplasia
Short distal phalanx of finger, Camptodactyly of finger, Scoliosis, Short metatarsal, Metacarpoph... ORPHA:1826
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Short humerus, Asymmetric radial dysplasia, Radial club hand, Ectrodactyly, Abnormality of the wr... ORPHA:2878
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender long bones with narrow diaphyses, Metaphyseal striations, Osteopenia, Short femoral neck,... OMIM:608154
Pseudopseudohypoparathyroidism
Short metatarsal, Short distal phalanx of the thumb, Short 4th metacarpal, Ectopic ossification, ... ORPHA:79445
Roberts Syndrome
Proximal placement of thumb, Abnormality of the upper limb, Hypoplasia of the radius, Bilateral s... ORPHA:3103
Coxopodopatellar Syndrome
Hip dysplasia, Abnormality of the knee, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ... ORPHA:1509
Verloove Vanhorick-Brubakk Syndrome
Abnormal form of the vertebral bodies, Limb undergrowth, Finger syndactyly, Abnormal metacarpal m... ORPHA:3429
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral clefting, Vertebral segmentation defect, Short neck OMIM:608681
Arthrogryposis, Distal, Type 2B2
Ulnar deviation of the wrist, Camptodactyly, Hip dislocation, Tapered finger, Brachydactyly, Shor... OMIM:618435
Mucolipidosis Iii Alpha/Beta
Craniosynostosis, Scoliosis, Short ribs, Short long bone, Shallow acetabular fossae, Carpal bone ... OMIM:252600
Shox-Related Short Stature
Forearm undergrowth, Scoliosis, Short neck, Lower limb undergrowth, Madelung deformity, Genu valg... ORPHA:314795
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Madelung deformity, Limited pronation/supination of forearm, Radial bowing DECIPHER:58
Satoyoshi Syndrome
Short metatarsal, Short metacarpal, Osteolytic defects of the phalanges of the hand, Amenorrhea, ... OMIM:600705
Prader-Willi Syndrome Due To Imprinting Mutation
Narrow palm, Small hand, Abnormal ulnar metaphysis morphology, Short foot, Hypogonadotropic hypog... ORPHA:177910
Robin Sequence With Cleft Mandible And Limb Anomalies
Hip dislocation, Short thumb, Proximal placement of thumb, Short tibia, Short 5th finger, Short h... OMIM:268305
Nivelon-Nivelon-Mabille Syndrome
Trapezoidal vertebral body, Short metacarpal, Micromelia, Short phalanx of finger, Brachydactyly OMIM:600092
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Abnormality of the first metatarsal bone, Synostosis of joints, Spinal rigidity, A... ORPHA:337
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Ectrodactyly, Finger syndactyly, Abnormal metacarpal morphology, Postaxi... ORPHA:1892
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Short thumb, Joint contracture of the 5th finger, Ulnar deviat... OMIM:194350
Spinal Dysplasia, Anhalt Type
Narrow anterio-posterior vertebral body diameter, Thoracic hemivertebrae, Thoracolumbar scoliosis... OMIM:601344
Opsismodysplasia
Scoliosis, Short neck, Metaphyseal cupping, Flat acetabular roof, Short phalanx of finger, Severe... OMIM:258480
Schneckenbecken Dysplasia
Bilateral talipes equinovarus, Short neck, Ovoid vertebral bodies, Flat acetabular roof, Advanced... OMIM:269250
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae, Short middle phalanx of finger, Fu... ORPHA:1436
Trichorhinophalangeal Syndrome, Type I
Scoliosis, Accelerated bone age after puberty, Avascular necrosis of the capital femoral epiphysi... OMIM:190350
Roifman-Chitayat Syndrome
Short neck, Short metatarsal, Short metacarpal, Osteopenia, Arthritis, Cone-shaped epiphysis OMIM:613328
Isolated Osteopoikilosis
Ankle pain, Sclerosis of foot bone, Increased bone mineral density, Abnormal long bone morphology... ORPHA:166119
Nievergelt Syndrome
Metatarsal synostosis, Mesomelia, Radioulnar synostosis, Radial head subluxation, Talipes equinov... OMIM:163400
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Short neck, Finger syndactyly, Short 4th metacarpal, Spina bifida occulta, Small hand,... ORPHA:1787
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Single transverse palmar crease, Preaxial polydactyly, Postaxial polydactyly, Short ribs, Missing... OMIM:617866
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hip dislocation, Proximal placement of thumb, Short metatarsal, Preaxial foot polydactyly, Toe sy... OMIM:609945
Moebius Syndrome
Camptodactyly, Short neck, Hand clenching, Syndactyly, Lower limb undergrowth, Micrognathia, Apla... OMIM:157900
Martsolf Syndrome 1
Osteopathia striata, Slender ulna, Tracheomalacia, Finger joint hypermobility, Lumbar hyperlordos... OMIM:212720
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Abnormality of the wrist, Abnormality of the elbow, Micromelia, Postaxial hand pol... ORPHA:2491
Holzgreve Syndrome
Hand polydactyly, Joint stiffness, Abnormal metacarpal morphology, Abnormal morphology of ulna, A... ORPHA:2167
Pseudohypoparathyroidism, Type Ia
Short finger, Hypogonadism, Short neck, Short metatarsal, Osteoporosis, Short metacarpal, Subcuta... OMIM:103580
Ulnar Hypoplasia
Radial dysplasia, Ulnar deviation of the hand, Mesomelic arm shortening, Hypoplasia of the ulna, ... OMIM:191440
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short distal phalanx of finger, Camptodactyly of finger, Short 4th metacarpal, Joint dislocation,... ORPHA:3201
Codas Syndrome
Short humerus, Scoliosis, Congenital hip dislocation, Generalized joint laxity, Proximal placemen... OMIM:600373
Distal Limb Deficiencies-Micrognathia Syndrome
Oligodactyly, Split foot, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Abnormal met... ORPHA:1307
Larsen Syndrome
Spondylolysis, Scoliosis, Hip dislocation, Short metatarsal, Knee dislocation, Tapered humerus, H... OMIM:150250
Arthrogryposis, Distal, Type 3
Down-sloping shoulders, Camptodactyly of toe, Camptodactyly of finger, Congenital hip dislocation... OMIM:114300
Achondroplasia
Generalized joint laxity, Rhizomelia, Radial bowing, Bowing of the legs, Brachydactyly, Severe pl... OMIM:100800
Tibial Hemimelia
Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Increased laxity of ankle... ORPHA:93322
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Abnormality of the humerus, Hip dislocation, Short neck, Abnormal... ORPHA:3098
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Aplasia/Hypoplasia of metatarsal bones, Genu varum, Metaphyseal widening, Broad femoral metaphyse... ORPHA:2502
Acrodysostosis 1 With Or Without Hormone Resistance
Neonatal epiphyseal stippling, Scoliosis, Hypogonadism, Short metatarsal, Dislocated radial head,... OMIM:101800
Acrootoocular Syndrome
Short finger, Small thenar eminence, Decreased palmar creases, Short metacarpal, Small hypothenar... ORPHA:2980
Greenberg Dysplasia
Rhizomelia, Platyspondyly, Brachydactyly, Micromelia, Anterior rib punctate calcifications, Decre... ORPHA:1426
Bruck Syndrome 1
Scoliosis, Osteoporosis, Vertebral wedging, Knee flexion contracture, Kyphosis, Platyspondyly, Pr... OMIM:259450
Ulnar Hypoplasia With Mental Retardation
Limitation of knee mobility, Bilateral ulnar hypoplasia, Limited elbow movement, Talipes equinovarus OMIM:276821
Fatco Syndrome
Absent hand, Abnormality of fibula morphology, Finger syndactyly, Abnormality of tibia morphology... ORPHA:2492
Spondylometaphyseal Dysplasia, Sedaghatian Type
Metaphyseal chondrodysplasia, Short metacarpal, Platyspondyly, Accelerated skeletal maturation, S... ORPHA:93317
C Syndrome
Postaxial foot polydactyly, Scoliosis, Hip dislocation, Ulnar deviation of finger, Limb undergrow... OMIM:211750
Cohen Syndrome
Lumbar hyperlordosis, Narrow palm, Short metatarsal, Short metacarpal, Micrognathia, Tapered fing... OMIM:216550
Tibial Aplasia-Ectrodactyly Syndrome
Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Short femur,... ORPHA:3329
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Osteolysis, Abnormality of the knee, Abnormal hip bone morphology, ... ORPHA:970
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Pelger-Huet Anomaly
Polydactyly, Short 4th metacarpal, Kyphosis, Short 3rd metacarpal, Short 5th metacarpal, Upper li... OMIM:169400
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Club-shaped proximal femur, Scoliosis, Hypoplasia of the odontoid process, Hyperlordosis, Platysp... OMIM:184250
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Scoliosis, Abnormal calcification of the carpal bones, Broad long bones, Atlantoaxial instability... OMIM:271665
Bent Bone Dysplasia Syndrome 2
Short 1st metacarpal, Short lower limbs, Butterfly vertebrae, Arthrogryposis multiplex congenita,... OMIM:620076
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Preaxial hand polydactyly, Delayed skeletal maturation, Short phalanx of finger, Brachydactyly, P... ORPHA:508533
Dermatoosteolysis, Kirghizian Type
Scoliosis, Osteolysis, Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormality... ORPHA:1657
Brachydactyly, Type B1
Camptodactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Vertebral fusion, Type B b... OMIM:113000
Fibrodysplasia Ossificans Progressiva
Scoliosis, Hallux valgus, Abnormality of the first metatarsal bone, Metaphyseal widening, Broad f... OMIM:135100
Osteoglophonic Dysplasia
Camptodactyly of finger, Short thumb, Short metatarsal, Rhizomelia, Broad thumb, Increased suscep... OMIM:166250
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Localized osteoporosis, Abnormality of the tibial plateaux, Flattened femoral head, Hu... ORPHA:93284
Weismann-Netter Syndrome
Scoliosis, Lateral femoral bowing, Kyphosis, Horizontal sacrum, Anterior tibial bowing, Fibular b... OMIM:112350
Multicentric Osteolysis, Nodulosis, And Arthropathy
Interphalangeal joint contracture of finger, C1-C2 subluxation, Wide cranial sutures, Kyphoscolio... OMIM:259600
Mesomelic Dysplasia, Savarirayan Type
Elbow dislocation, Hip dislocation, Hypoplasia of proximal radius, Mesomelia, Fibular aplasia, Gl... ORPHA:85170
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Abnormal distal phalanx morphology of finger, Bowing of the long bones, Abnormal hip bone morphol... ORPHA:2725
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal cupping, Rhizomelia, Wafer-thin platyspondyly, Micromelia, Metaphyseal irregularity, ... OMIM:151210
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the humerus, Abnormal joint morphology, Abnormal metaphys... ORPHA:3130
Spermatogenic Failure 72
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618153
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Short distal phalanx of finger, Short metatarsal, Rhizomelia, Short metacarpal, Osteopenia, Short... OMIM:614813
Multicentric Carpotarsal Osteolysis Syndrome
Ankle pain, Metatarsal osteolysis, Metacarpal osteolysis, Ulnar deviation of the hand, Bilateral ... OMIM:166300
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Brachydactyly OMIM:603233
Greenberg Dysplasia
Absent or minimally ossified vertebral bodies, Metaphyseal cupping, Rhizomelia, Multiple prenatal... OMIM:215140
Apert Syndrome
Craniosynostosis, Coronal craniosynostosis, Broad distal phalanx of the thumb, Sagittal craniosyn... OMIM:101200
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Cervical instability, Delayed ossification of carpal bones, Coxa valga, Dislocated radial head, K... OMIM:617425
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618341
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Vertebral fusion, Supernumerary vertebrae, Short neck, Short ribs, Missing ribs, Hemiv... OMIM:271520
Orofaciodigital Syndrome Type 10
Oligodactyly, Preaxial polydactyly, Metatarsal synostosis, Polysyndactyly of hallux, Hypoplasia o... ORPHA:2756
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Scoliosis, Prominent metopic ridge, Toe syndactyly, Abnormal morphology ... ORPHA:251014
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Short ribs, Advanced ossification of carpal bones, Micromelia, Accele... OMIM:215045
Pseudoaminopterin Syndrome
Patchy reduction of bone mineral density, Clinodactyly of the 5th toe, Short thumb, Postaxial pol... ORPHA:221120
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Increased skull ossification, Micromelia, Abnormal shoulder m... ORPHA:1422
Andersen Cardiodysrhythmic Periodic Paralysis
Clinodactyly of the 5th toe, Scoliosis, Short metatarsal, Short metacarpal, Small finger, Slender... OMIM:170390
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Camptodactyly, Short neck, Metaphyseal widening, Short ribs, Advanced ossification of carpal bone... OMIM:224400
Spermatogenic Failure 65
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619712
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Hip dislocation, Limited pronation/supination of forearm, Syndac... OMIM:605432
Pseudohypoparathyroidism, Type Ic
Hypogonadism, Short neck, Short metatarsal, Osteoporosis, Short metacarpal, Brachydactyly OMIM:612462
3Q29 Microdeletion Syndrome
Six lumbar vertebrae, Clinodactyly of the 5th finger, Joint hyperflexibility, Tapered finger ORPHA:65286
Tricho-Retino-Dento-Digital Syndrome
Short 5th metacarpal, Abnormality of the hand, Brachydactyly ORPHA:1264
Jackson-Weiss Syndrome
Broad metatarsal, Craniosynostosis, Coronal craniosynostosis, Calcaneonavicular fusion, Broad dis... OMIM:123150
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal radial head dislocation, Proximal placement of thumb, Mesomelia, Micrognathia, Aplasia/H... OMIM:602418
Temtamy Preaxial Brachydactyly Syndrome
Complete duplication of the middle phalanx of the 3rd finger, Short hallux, Synostosis of carpals... ORPHA:363417
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Patellar aplasia, Wide capital femoral epiphyses, Patellar hypoplasia, Patellar dislocation, Shor... OMIM:147891
Arms, Malformation Of
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna OMIM:107900
Acheiropodia
Aplasia of the ulna, Short humerus, Absent hand, Abnormal metaphysis morphology, Absent radius, A... ORPHA:931
Spermatogenic Failure 33
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:617965
Autosomal Recessive Robinow Syndrome
Short distal phalanx of finger, Camptodactyly of finger, Scoliosis, Toe syndactyly, Broad thumb, ... ORPHA:1507
Ellis-Van Creveld Syndrome
Postaxial foot polydactyly, Cone-shaped epiphyses of phalanges 2 to 5, Short ribs, Short long bon... OMIM:225500
Ulna Hypoplasia-Intellectual Disability Syndrome
Ulnar deviation of finger, Joint stiffness, Mesomelia, Delayed cranial suture closure, Micromelia... ORPHA:2249
Spermatogenic Failure 56
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619515
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella OMIM:617593
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Metaphyseal irregularity, Squared-off platyspondyly, Bowing of the legs, Generalized b... ORPHA:93352
Holt-Oram Syndrome
Down-sloping shoulders, Abnormality of the humerus, Scoliosis, Absent thumb, Joint stiffness, Pho... ORPHA:392
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elbow ankylosis, Scoliosis, Abnormal metacarpophalangeal joint morphology, Primary amenorrhea, Me... ORPHA:95699
Ulnar Hypoplasia-Split Foot Syndrome
Split foot, Split hand, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius ORPHA:1122
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Metaphyseal cupping, Short ribs, Rhizomelia, Short metacarpal, Me... ORPHA:50945
Thoracolaryngopelvic Dysplasia
Scoliosis, Irregular vertebral endplates, Metaphyseal widening, Short ribs, Hypoplastic iliac win... OMIM:187760
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Lumbar interpedicular narrowing, Rhizomelia, Metaphyseal irregularity, Delayed skeletal maturatio... OMIM:271510
Humero-Radial Synostosis
Elbow ankylosis, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Limitation of joint m... ORPHA:3265
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Lumbar hyperlordosis, Genu varum, Central vertebral hypoplasia, Short neck, Short ribs... OMIM:602557
Baller-Gerold Syndrome
Oligodactyly, Bicoronal synostosis, Scoliosis, Aplasia of metacarpal bones, Aphalangy of the hand... OMIM:218600
Auriculoosteodysplasia
Hip dysplasia, Abnormality of the wrist, Abnormal metacarpal morphology, Elbow dislocation, Aplas... ORPHA:114
Ritscher-Schinzel Syndrome 3
Poorly ossified vertebrae, Ulnar bowing, Shortening of all distal phalanges of the fingers, Micro... OMIM:619135
Becker Nevus Syndrome
Hemivertebrae, Scoliosis, Cervical ribs OMIM:604919
Osteopetrosis, Autosomal Dominant 2
Generalized osteosclerosis, Osteopetrosis, Recurrent fractures, Abnormality of the vertebral endp... OMIM:166600
Paget Disease Of Bone 2, Early-Onset
Osteolysis, Sandwich appearance of vertebral bodies, Bone pain, Vertebral compression fracture, S... OMIM:602080
Pentasomy X
Camptodactyly of finger, Hip dysplasia, Radioulnar synostosis, Small hand, Micrognathia, Short fo... ORPHA:11
Ophthalmomandibulomelic Dysplasia
Elbow dislocation, Coxa valga, Mesomelia, Ulnar deviated club hands, Radioulnar dislocation, Radi... OMIM:164900
Poland Syndrome
Absent hand, Abnormality of the humerus, Scoliosis, Finger symphalangism, Abnormality of the hand... ORPHA:2911
Upper Limb Mesomelic Dysplasia
Ulnar deviation of finger, Hypoplasia of the ulna, Radial bowing ORPHA:2497
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:617592
Spermatogenic Failure 49
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619094
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Osteolysis, Metacarpal osteolysis, Abnormality of the wrist, Slender lon... ORPHA:2774
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... OMIM:301059
Postaxial Tetramelic Oligodactyly
Oligodactyly, Abnormal finger morphology, Ectrodactyly, Abnormal metacarpal morphology ORPHA:2730
Nevus Comedonicus Syndrome
Scoliosis, Preaxial polydactyly, Finger syndactyly, Toe syndactyly, Spina bifida occulta, Abnorma... ORPHA:64754
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Short femur, Supernumerary ribs, Hypoplasia of the ulna, Fibular hypoplasia, Absent ... OMIM:612447
Baller-Gerold Syndrome
Scoliosis, Bowing of the long bones, Aplasia/Hypoplasia of the thumb, Abnormal metacarpal morphol... ORPHA:1225
Atelosteogenesis Type Iii
Abnormality of the humerus, Hip dislocation, Short tibia, Patellar dislocation, Knee dislocation,... ORPHA:56305
Spermatogenic Failure 17
Male infertility OMIM:617214
2Q37 Microdeletion Syndrome
Tracheomalacia, Short neck, Finger syndactyly, Short metacarpal, Clinodactyly of the 5th finger, ... ORPHA:1001
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Aplasia of the 3rd finger, Absent tibia, Hand monodactyly, Short hallux, Absent... OMIM:119100
Lethal Faciocardiomelic Dysplasia
Radial club hand, Short thumb, Hypoplasia of the radius, Short tibia, Microretrognathia, Short 5t... ORPHA:1972
Craniometaphyseal Dysplasia, Autosomal Dominant
Metaphyseal widening, Abnormality of the vertebral column, Calvarial osteosclerosis, Erlenmeyer f... OMIM:123000
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Coxa valga, Genu valgum, Epiphyseal dysplasia, Short phalanx of finger, Brachydactyly OMIM:132450
Camurati-Engelmann Disease
Craniofacial osteosclerosis, Abnormality of the humerus, Scoliosis, Hypogonadism, Abnormal diaphy... ORPHA:1328
Spermatogenic Failure 54
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... OMIM:619379
Coffin-Lowry Syndrome
Short distal phalanx of finger, Scoliosis, Abnormal diaphysis morphology, Abnormal form of the ve... ORPHA:192
Rare Circulatory System Disease
Abnormal metatarsal morphology, Thoracic kyphosis, Abnormality of the knee, Decreased finger mobi... ORPHA:98028
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Proximal/middle symphalangism of 5th finger, Toe syndactyly, Broa... OMIM:184460
Chromosome 2Q37 Deletion Syndrome
Type E brachydactyly, Short fourth metatarsal, Short metacarpal, Short toe, Short phalanx of finger OMIM:600430
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormality of the vertebral column, Calvarial osteosclerosis, Thicke... OMIM:607634
Occipital Horn Syndrome
Short humerus, Limited elbow extension, Persistent open anterior fontanelle, Osteoporosis, Pelvic... OMIM:304150
Femoral-Facial Syndrome
Abnormal sacrum morphology, Scoliosis, Abnormality of fibula morphology, Hip dysplasia, Micrognat... ORPHA:1988
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... OMIM:619585
Shashi-Pena Syndrome
Scoliosis, Osteoporosis, Short metacarpal, Kyphosis, Deep palmar crease, Accelerated skeletal mat... OMIM:617190
3M Syndrome
Scoliosis, Congenital hip dislocation, Abnormal metaphysis morphology, Short neck, Increased vert... ORPHA:2616
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:620222
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... OMIM:618664
Spermatogenic Failure 76
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... OMIM:620084
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Spondylolisthesis, Short toe, Spina bifida occulta, Short 5th metacarpal, 11 pairs of... OMIM:617877
Laurin-Sandrow Syndrome
Limb duplication, Absent radius, Absent tibia, Finger syndactyly, Abnormality of the wrist, Aplas... ORPHA:2378
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities