banner
Genes Phenotypes Help, News, Blog

Gene: Hoxd11 MGI:96203

Log in to follow
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
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... ORPHA:1570
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Distal Symphalangism
Joint stiffness, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Syno... ORPHA:3248
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... OMIM:250460
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... OMIM:226900
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... OMIM:610017
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Brachydactyly, Type A1
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... OMIM:112500
Radioulnar Synostosis, Nonsyndromic, Susceptibility To
Radioulnar synostosis, Limited pronation/supination of forearm OMIM:179300
Banki Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... ORPHA:1228
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... OMIM:112910
Symphalangism, C. S. Lewis Type
Synostosis involving the 1st metacarpal OMIM:185650
Humeroradial Synostosis
Humeroradial synostosis OMIM:143050
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog... ORPHA:1836
Radial Hemimelia
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... ORPHA:93321
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal form of the vertebral bodi... ORPHA:3104
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph... ORPHA:93351
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C... ORPHA:968
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... OMIM:186570
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Avascular necros... OMIM:132400
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... ORPHA:93406
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... OMIM:271650
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... OMIM:182255
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... ORPHA:1275
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Symphalangism, Proximal, 1B
Clinodactyly of the 5th finger, Short 2nd finger, Abnormal finger flexion crease, Proximal/middle... OMIM:615298
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Bowing of the legs, Delayed skeletal maturation, Reduced bone mineral dens... OMIM:617974
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar... ORPHA:2639
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Delayed skeletal maturation, Abnormal fibula morphology, Abnormal fo... ORPHA:1837
Metaphyseal Anadysplasia
Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Aplasia/Hypoplasia of the... ORPHA:1040
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... OMIM:607078
Craniosynostosis, Adelaide Type
Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... OMIM:600593
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Ankylosis, Short foot, Short palm, Clinodactyly, Campt... OMIM:615170
Brachydactyly Type A7
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... ORPHA:93397
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Brachydactyly, Type A1, D
Short proximal phalanx of thumb, Short proximal phalanx of finger, Short middle phalanx of the 5t... OMIM:616849
Symphalangism, Proximal, 1A
Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy... OMIM:185800
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Brachydactyly, Type A1, B
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... OMIM:607004
Dwarfism With Tall Vertebrae
Increased vertebral height OMIM:126950
Pseudoachondroplasia
Genu recurvatum, Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Os... OMIM:177170
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Steel Syndrome
Carpal synostosis, Lumbar hyperlordosis, Hip dislocation, Coxa vara, Scoliosis, Clinodactyly of t... OMIM:615155
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Recurrent patellar dislocation, Micrognathia, Capitate-hamate fusion, Short toe... OMIM:614078
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... ORPHA:90650
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Metatarsal... OMIM:612961
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... ORPHA:93396
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Metacarpal 4-5 Fusion
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... OMIM:309630
Synostoses, Tarsal, Carpal, And Digital
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... OMIM:186400
Acromicric Dysplasia
Short metacarpal, Ovoid vertebral bodies, Delayed skeletal maturation, Cone-shaped epiphysis, Sho... OMIM:102370
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... ORPHA:50809
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, 2-5 finger cutaneous syndactyly, Toe syndactyly, Small hypothenar eminence, Ab... ORPHA:3246
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Paternal Uniparental Disomy Of Chromosome X
Short metacarpal, Short neck, Infertility, Cubitus valgus, Decreased testicular size ORPHA:261524
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology OMIM:269630
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... OMIM:609655
Brachydactyly Type A1
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... ORPHA:93388
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures... OMIM:156510
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... OMIM:611263
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,... OMIM:118651
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... ORPHA:1350
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Abnormal morphology... ORPHA:2633
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Metaphyseal widening, Coxa... OMIM:608940
Acromicric Dysplasia
Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Delayed skeletal maturation, Small han... ORPHA:969
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Lateral hum... ORPHA:2741
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Winchester Syndrome
Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, G... OMIM:277950
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del... ORPHA:85198
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... OMIM:271700
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... OMIM:609616
Epiphyseal Dysplasia, Multiple, 3
Epiphyseal dysplasia, Short metacarpal, Knee pain, Delayed epiphyseal ossification, Limited elbow... OMIM:600969
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... ORPHA:1263
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly OMIM:112410
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... OMIM:311300
Ring Chromosome 4 Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... ORPHA:1447
Sugarman Brachydactyly
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... OMIM:272150
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Accelerated skeletal maturation, Micrognathia, Abnormal hand morphology, Metap... ORPHA:93307
Chromosome 2Q35 Duplication Syndrome
Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista... OMIM:185900
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... ORPHA:93409
Tibial Torsion, Bilateral Medial
Bowing of the legs, Scoliosis, Tibial torsion OMIM:188800
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal ... OMIM:609441
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Ruvalcaba Syndrome
Short metacarpal, Micromelia, Kyphosis, Cryptorchidism, Limited elbow extension, Short metatarsal... OMIM:180870
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... OMIM:602875
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Spondylometaphyseal Dysplasia, Corner Fracture Type
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Hyperconvex vertebral body... OMIM:184255
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Genu valgum, Deviation of ... ORPHA:2831
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... OMIM:112450
Primary Basilar Invagination
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck ORPHA:2285
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Abnormalit... OMIM:609324
Odontochondrodysplasia 1
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met... OMIM:184260
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal morphology of ulna, Short neck, Decreased fertility, Hypogonadism, Abnormal metacarpal m... ORPHA:2233
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Halberd-shaped pelvi... OMIM:184252
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... ORPHA:163665
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... ORPHA:2779
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Cardiospondylocarpofacial Syndrome
Brachydactyly, Synostosis of carpal bones, Abnormal form of the vertebral bodies, Short palm ORPHA:3238
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of... ORPHA:957
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... OMIM:614135
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Smith-Mccort Dysplasia 1
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... OMIM:607326
Smith-Mccort Dysplasia 2
Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Short neck, Broad metatars... OMIM:615222
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol... OMIM:142900
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... OMIM:249700
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha... ORPHA:370010
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia ORPHA:71289
Exostoses, Multiple, Type Ii
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... OMIM:133701
Exostoses, Multiple, Type I
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... OMIM:133700
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Humero-Radio-Ulnar Synostosis
Aplasia/Hypoplasia of the thumb, Abnormal thumb morphology, Upper limb asymmetry, Radioulnar syno... ORPHA:3266
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... OMIM:602111
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Joint stiffness, Hyperlordosis, Micrognathia, Vertebr... ORPHA:1323
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia
Radioulnar synostosis, Dislocated radial head OMIM:266255
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Cryptorchidis... ORPHA:3121
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... OMIM:151200
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... OMIM:603546
Brachydactyly, Type A1, C
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... OMIM:615072
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... ORPHA:93360
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula ORPHA:1118
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... ORPHA:429
Brachyolmia Type 1, Hobaek Type
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... OMIM:271530
Chst3-Related Skeletal Dysplasia
Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis, Flexion contracture, Abnormality o... ORPHA:263463
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Delayed skeletal maturation, Abnormality of the elbow, Radioulnar synostosis, ... ORPHA:3268
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology OMIM:259270
Seckel Syndrome 7
Delayed skeletal maturation, Abnormal carpal morphology, Madelung deformity, Primary amenorrhea, ... OMIM:614851
Brachydactyly Type E
Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper... ORPHA:93387
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals OMIM:618724
Eiken Syndrome
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... ORPHA:85166
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Tapered finger, Short neck, Multiple joint dislocation, Hip... OMIM:618395
Czech Dysplasia
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... OMIM:609162
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ... OMIM:606835
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal form of ... ORPHA:1802
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... ORPHA:85169
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Delayed skelet... OMIM:190351
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Carpal synostosis, Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis ORPHA:2010
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga OMIM:271620
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... OMIM:605282
Pfeiffer Syndrome
Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Symphalangism affecting the phalange... ORPHA:710
Mesomelia-Synostoses Syndrome
Abnormality of the knee, Brachydactyly, Micromelia, Abnormality of the wrist, Abnormality of the ... ORPHA:2496
Spondylometaphyseal Dysplasia, Pagnamenta Type
Rhizomelia, Delayed skeletal maturation, Femoral bowing, Platyspondyly, Thoracic kyphosis, Wormia... OMIM:619638
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... ORPHA:2501
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... OMIM:300106
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... ORPHA:3258
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Hypopla... OMIM:615349
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Shortening of all metacarpals, Shortening of all phalanges of fingers, Platyspondy... OMIM:601356
Talonavicular Coalition
Coalescence of tarsal bones, Short hallux, Proximal/middle symphalangism of 5th finger, Abnormali... OMIM:186750
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, Hyperlordosis, Kyphosis, Abnor... ORPHA:40
Symphalangism, Distal
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis... OMIM:185700
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Joint laxity, Short metacarpal, Camptodactyly of finger, Kyphoscoliosis, Tapered fing... OMIM:612350
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... OMIM:223800
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Hip dislocation, Knee dislocation, Hip dysplasia, Hammertoe, Scoliosis ORPHA:370943
Ivic Syndrome
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... ORPHA:2307
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... OMIM:228900
Parastremmatic Dwarfism
Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis OMIM:168400
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B... OMIM:609052
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Delayed skeletal maturation, Short thumb, Short metacarpal, Cryptorchidism ORPHA:2489
Frontometaphyseal Dysplasia 1
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... OMIM:305620
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ... ORPHA:99642
Tetrasomy X
Premature ovarian insufficiency, Joint hyperflexibility, Radioulnar synostosis, Hip dysplasia, Cl... ORPHA:9
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Sacral dimple, Short hallux, Proximal placemen... ORPHA:2438
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial... ORPHA:1427
Brachydactyly-Preaxial Hallux Varus Syndrome
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br... ORPHA:1278
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Vertebral fusion, Tarsal synostosis, Elbow contracture, Multiple pterygia, Crani... OMIM:178110
Acrorenal Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Aplasia/Hypopla... ORPHA:971
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... OMIM:272460
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... ORPHA:85188
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o... OMIM:184253
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... OMIM:609432
Epiphyseal Dysplasia, Baumann Type
Carpal bone aplasia, Epiphyseal dysplasia, Joint laxity, Hypoplasia of the femoral head, Marked d... OMIM:610797
Acromesomelic Dysplasia 4
Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G... OMIM:619636
Angel-Shaped Phalangoepiphyseal Dysplasia
Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr... OMIM:105835
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Short thumb, Crypto... OMIM:263750
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Acrodysostosis
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... ORPHA:950
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra... OMIM:611717
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla... ORPHA:1856
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Reduced bone mineral density, Delayed ossification of carpal bones, Short femoral neck,... OMIM:618392
Microphthalmia With Limb Anomalies
Sacral dimple, Toe syndactyly, Sandal gap, Single transverse palmar crease, Unilateral cryptorchi... OMIM:206920
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Joint stiffness, Kyphosis, Abnormality of the elbow, Hip dislocation, Vertebra... ORPHA:1005
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Short metacarpal, Joint hypermobility, Thoracolumbar kyphoscoliosis,... OMIM:618853
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
Sheldon-Hall Syndrome
Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Join... ORPHA:1147
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... OMIM:618167
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t... OMIM:226980
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Limitation of joint... ORPHA:2619
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla... OMIM:604864
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... OMIM:271640
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvic girdle bone ... ORPHA:2370
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Cryptorchidism, Short metatarsal, Advanced ossification of carpal bones, Spinal... OMIM:614613
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S... OMIM:171480
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
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short neck, Azoospermia, Cubitus valgus, Short 4th metacarpal ORPHA:2183
Muenke Syndrome
Broad hallux, Capitate-hamate fusion, Cone-shaped epiphyses of the phalanges of the hand, Coronal... OMIM:602849
Autosomal Dominant Brachyolmia
Increased vertebral height, Abnormal metaphysis morphology, Platyspondyly, Kyphoscoliosis ORPHA:93304
Peripheral Dysostosis
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Decreased hip abduction, Lumbar hyperlordosis, Flat capital femoral epiphysis, Genu valgum, Irreg... OMIM:609223
49,Xyyyy Syndrome
Abnormality of the epiphyses of the elbow, Large carpal bones, Micrognathia, Abnormality of the t... ORPHA:99330
Brachydactyly-Nystagmus-Cerebellar Ataxia
Short metacarpal, Short metatarsal, Brachydactyly OMIM:113400
Juberg-Hayward Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal toe morphology, Abnormal carpal morphology, Limited elb... OMIM:216100
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Vertebral segmentation defe... ORPHA:2631
Acromegaloid Facial Appearance Syndrome
Micrognathia, Tapered finger, Large hands, Short 5th metacarpal, Joint hypermobility OMIM:102150
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Enlarged joints, Lumbar hyperlordosis, Large tarsal bones, Micrognathia, Fl... OMIM:215150
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Thoracolumbar scoliosis, ... OMIM:616723
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Hypoplastic pubic b... ORPHA:93346
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... OMIM:606895
Aase-Smith Syndrome
Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Aplasia/Hypoplasia of the ... ORPHA:916
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Brachydactyly ORPHA:35099
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... OMIM:619598
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Spondyloepiphyseal Dysplasia, Stanescu Type
Stiff neck, Kyphoscoliosis, Joint stiffness, Hypoplastic ilia, Coxa valga, Vertebral wedging, Pla... OMIM:616583
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Rhizomelia, Iliac crest serration, Hypoplasia of... ORPHA:239
Microphthalmia With Limb Anomalies
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... ORPHA:1106
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly ORPHA:2956
Brachydactyly, Type E2
Short metacarpal, Short metatarsal, Brachydactyly OMIM:613382
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... ORPHA:166011
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Solitary Bone Cyst
Back pain, Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Pathologic fract... ORPHA:83468
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra... OMIM:610967
Desbuquois Dysplasia 2
Single transverse palmar crease, Short neck, Metaphyseal widening, Knee dislocation, Short phalan... OMIM:615777
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Brachyolmia Type 2
Platyspondyly OMIM:613678
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly OMIM:604381
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypoplasia of the radius, Hemiver... OMIM:212780
Prenatal Bowing
Bowing of the long bones OMIM:264050
Subaortic Stenosis-Short Stature Syndrome
Short neck, Micrognathia, Kyphosis, Scoliosis, Synostosis of carpal bones, Bilateral single trans... ORPHA:3191
Larsen Syndrome
Finger syndactyly, Large joint dislocations, Craniosynostosis, Cryptorchidism, Accessory carpal b... ORPHA:503
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... ORPHA:85167
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... ORPHA:337
Atelosteogenesis, Type Iii
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Short nec... OMIM:108721
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormal hand morphology, Short digit, Short 5th metacarpal ORPHA:228190
Pseudopseudohypoparathyroidism
Short metacarpal, Short neck, Short metatarsal, Osteoporosis, Brachydactyly OMIM:612463
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Micromelia, Short neck, Increased interverte... OMIM:256050
Brachydactyly Type C
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... ORPHA:93384
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Delayed skeletal maturation, Hypoplasia of the... OMIM:617604
Progressive Pseudorheumatoid Arthropathy Of Childhood
Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde... ORPHA:1159
Codas Syndrome
Short metacarpal, Congenital hip dislocation, Delayed skeletal maturation, Abnormal form of the v... ORPHA:1458
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 Syndrome
Hip contracture, Short metacarpal, Biconvex vertebral bodies, Single transverse palmar crease, Sh... OMIM:616651
Waardenburg Syndrome, Type 3
Scapular winging, Camptodactyly of finger, Cutaneous finger syndactyly, Carpal synostosis, Clinod... OMIM:148820
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o... ORPHA:93323
Summitt Syndrome
Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgu... ORPHA:3210
Distal Arthrogryposis Type 1
Camptodactyly of finger, Rocker bottom foot, Joint stiffness, Ulnar deviation of finger, Abnormal... ORPHA:1146
Muenke Syndrome
Tarsal synostosis, Cone-shaped epiphysis, Short foot, Short palm, Carpal synostosis, Coronal cran... ORPHA:53271
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Microretrognathia, Hip contracture, Kyphoscoliosis, Coxa valga, Accelerated skeletal maturation, ... OMIM:618363
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Tracheobronchomalacia, Short phalanx of ... ORPHA:56304
Microcephalic Primordial Dwarfism, Dauber Type
Delayed skeletal maturation, Abnormal carpal morphology, Madelung deformity, Primary amenorrhea, ... ORPHA:319675
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Anauxetic Dysplasia 1
Joint laxity, Hip contracture, Lumbar hyperlordosis, Rhizomelia, Short neck, Hypoplastic ilia, Sh... OMIM:607095
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral
Short thumb, Short metacarpal, Duplication of the distal phalanx of the 5th finger, Abnormal meta... ORPHA:973
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Joint laxity, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocat... OMIM:620269
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short metatarsal, Type E brachydactyly, Short 4th metacarpal OMIM:113301
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi... OMIM:618150
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Narrow... OMIM:156530
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... OMIM:251450
Waardenburg Syndrome Type 3
Camptodactyly of finger, Joint stiffness, Abnormal finger morphology, Cutaneous finger syndactyly... ORPHA:896
Otopalatodigital Syndrome Type 2
Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short hallux, Campto... ORPHA:90652
Leri Pleonosteosis
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Elbow dislocation, Abnormal finger mor... ORPHA:2900
Atelosteogenesis, Type I
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia... OMIM:108720
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Anonychia-Ectrodactyly
Split hand, Aplasia of metacarpal bones OMIM:106900
Spondylosis, Cervical
Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis OMIM:184300
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp... OMIM:271600
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed skeletal maturation, Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short mid... ORPHA:63442
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... ORPHA:1788
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco... OMIM:274000
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... ORPHA:2141
Multiple Epiphyseal Dysplasia Type 5
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnorm... ORPHA:93311
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... OMIM:250420
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Thoracomelic Dysplasia
Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Joint hype... ORPHA:1803
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... OMIM:617102
Marinesco-Sjogren Syndrome
Short metacarpal, Hypergonadotropic hypogonadism, Coxa valga, Kyphosis, Flexion contracture, Shor... OMIM:248800
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Trichorhinophalangeal Syndrome Type 1
Short metacarpal, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of the capital femor... ORPHA:77258
Brachyolmia, Maroteaux Type
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... ORPHA:168549
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha... OMIM:250220
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormal femur morphology, Ab... ORPHA:3429
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Tarsal-Carpal Coalition Syndrome
Abnormality of the ankle, Tarsal synostosis ORPHA:1412
Pde4D Haploinsufficiency Syndrome
Joint laxity, Short metacarpal, Broad hallux, Accelerated skeletal maturation, Micrognathia, Cryp... ORPHA:439822
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... OMIM:143095
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... OMIM:610915
Desbuquois Syndrome
Genu recurvatum, Camptodactyly of finger, Coxa valga, Accelerated skeletal maturation, Elbow disl... ORPHA:1425
Kuskokwim Syndrome
Joint stiffness, Aplasia/Hypoplasia of the patella, Abnormal form of the vertebral bodies, Aplasi... ORPHA:1149
Dysplasia Epiphysealis Hemimelica
Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Accele... ORPHA:1822
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O... OMIM:608728
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Cryptorchidism, Radio... OMIM:194350
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Micrognathia, Supernumerary ribs, Six lumbar vertebrae, Joint hypermobility OMIM:619122
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex... ORPHA:3103
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... ORPHA:93405
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal... OMIM:144750
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormality of the vertebral column, Osteoarthritis, Abnormal pelvis bone morphology, Palmoplanta... ORPHA:2206
Tarsal Coalition
Tarsal synostosis OMIM:186850
Brachydactyly, Type E1
Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly OMIM:113300
Linear Verrucous Nevus Syndrome
Short metacarpal, Toe syndactyly, Genu recurvatum, Reduced bone mineral density, Scoliosis ORPHA:2611
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormality of... ORPHA:2319
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys... ORPHA:93316
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... ORPHA:1826
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Bowing of the legs, Secondary amenorrhea, Irregular vertebral endplates, Platyspo... OMIM:612847
Osteogenesis Imperfecta, Type Vi
Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Increased susceptib... OMIM:613982
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Delayed skeletal maturation, Genu valgum, Slender long bones with narrow diaphyses, D... OMIM:608154
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b... ORPHA:2878
Coxopodopatellar Syndrome
Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog... ORPHA:1509
Pseudopseudohypoparathyroidism
Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ... ORPHA:79445
Arthrogryposis, Distal, Type 2B2
Broad hallux, Sandal gap, Ulnar deviation of the wrist, Tapered finger, Metatarsus adductus, Shor... OMIM:618435
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... OMIM:252600
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Vertebral clefting, Hemivertebrae, Short neck OMIM:608681
Shox-Related Short Stature
Short neck, Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm und... ORPHA:314795
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... OMIM:268305
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Madelung deformity, Limited pronation/supination of forearm DECIPHER:58
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... ORPHA:1307
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... OMIM:609945
Satoyoshi Syndrome
Short metacarpal, Short metatarsal, Amenorrhea, Osteolytic defects of the phalanges of the hand, ... OMIM:600705
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Narrow palm, Small hand, Short foot, Abnormal ulnar metaphysis mor... ORPHA:177910
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Single transverse palmar crease, Short neck, Micrognathia, Knee flexi... OMIM:114300
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Micromelia, Trapezoidal vertebral body, Short phalanx of finger, Brachydactyly OMIM:600092
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Codas Syndrome
Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac... OMIM:600373
Spinal Dysplasia, Anhalt Type
Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Coxa vara, Absent spinou... OMIM:601344
Opsismodysplasia
Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Squared iliac bones... OMIM:258480
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical... OMIM:150250
Moebius Syndrome
Syndactyly, Brachydactyly, Hypogonadotropic hypogonadism, Short neck, Micrognathia, Split hand, A... OMIM:157900
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos... OMIM:208230
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... ORPHA:1436
Schneckenbecken Dysplasia
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i... OMIM:269250
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Martsolf Syndrome 1
Joint laxity, Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Hypogonadotropic hypogo... OMIM:212720
Roifman-Chitayat Syndrome
Osteopenia, Short metacarpal, Short neck, Short metatarsal, Cone-shaped epiphysis, Arthritis OMIM:613328
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Short metacarpal, Ivory epiphyses of the distal phalanges of the hand, Swelling of pr... OMIM:190350
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Nievergelt Syndrome
Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar... OMIM:163400
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Micrognathia, ... OMIM:617866
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Short neck, Micrognathia, Delayed skeletal maturation, Small hand, Abnormal fo... ORPHA:1787
C Syndrome
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, C... OMIM:211750
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... ORPHA:2491
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Hand polydactyly, Ab... ORPHA:2167
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Joint dislocation, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toe... ORPHA:3201
Pseudohypoparathyroidism, Type Ia
Short metacarpal, Short neck, Short toe, Short metatarsal, Osteoporosis, Subcutaneous ossificatio... OMIM:103580
Isolated Osteopoikilosis
Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... ORPHA:166119
Acrodysostosis 1 With Or Without Hormone Resistance
Short metacarpal, Brachydactyly, Accelerated skeletal maturation, Cryptorchidism, Neonatal epiphy... OMIM:101800
Achondroplasia
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... OMIM:100800
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Preax... ORPHA:3098
Acrootoocular Syndrome
Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal finger flexion crease, Decrease... ORPHA:2980
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... ORPHA:2502
Bruck Syndrome 1
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... OMIM:259450
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... ORPHA:2492
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement OMIM:276821
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... ORPHA:1426
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Accelerated skeletal maturation, Metaphyseal chondrodysp... ORPHA:93317
Cohen Syndrome
Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Single transverse palmar crease, Tape... OMIM:216550
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced ... ORPHA:970
Pelger-Huet Anomaly
Kyphosis, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Short 4th metacarpal, Short ... OMIM:169400
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid process, Cli... OMIM:184250
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... OMIM:101200
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Nar... ORPHA:508533
2Q31.1 Microdeletion Syndrome
Short neck, Micrognathia, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, C... ORPHA:251014
Pseudoaminopterin Syndrome
Brachydactyly, Overlapping toe, Single transverse palmar crease, Postaxial polydactyly, Limited e... ORPHA:221120
Osteoglophonic Dysplasia
Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, B... OMIM:166250
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing,... OMIM:620076
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Short neck, Micrognathia, Triangular shaped distal phalanges of t... OMIM:271665
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Abnormality of the hand, Abnormality of the wrist, Osteoarthritis, Osteolysis,... ORPHA:1657
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho... OMIM:112350
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Postaxial hand polydactyly, Cryptorchidism, Genu valgum, Postaxial foot p... OMIM:225500
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris... OMIM:259600
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... ORPHA:85170
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long b... OMIM:151210
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Ulnar deviation of the hand, Ankle swelling, Micrognathia, Wrist swelling, Osteolysis... OMIM:166300
Greenberg Dysplasia
Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ... OMIM:215140
3Q29 Microdeletion Syndrome
Clinodactyly of the 5th finger, Joint hyperflexibility, Six lumbar vertebrae, Tapered finger ORPHA:65286
Satoyoshi Syndrome
Abnormality of the knee, Tapered finger, Abnormality of the humerus, Abnormality of the wrist, Ab... ORPHA:3130
Jackson-Weiss Syndrome
Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2... OMIM:123150
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Brachydactyly OMIM:603233
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Micrognathia, Cryptorchidism, Ulnar bowing, Shortening of all distal phal... OMIM:619135
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Osteopenia, Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Short metatarsal, Sm... OMIM:614813
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Short ribs, Supernume... OMIM:271520
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse palmar crease, Kyphoscoliosis, Cox... OMIM:617425
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short neck, Microg... ORPHA:2756
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Autosomal Recessive Robinow Syndrome
Short neck, Micrognathia, Vertebral segmentation defect, Clinodactyly of the 5th finger, Bilatera... ORPHA:1507
Chondrodysplasia, Blomstrand Type
Micromelia, Accelerated skeletal maturation, Micrognathia, Generalized osteosclerosis, Squared il... OMIM:215045
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... OMIM:605432
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Delayed skeletal maturation, F... OMIM:612447
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... ORPHA:1422
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Micromelia, Short neck, Micrognathia, Metaphyseal wid... OMIM:224400
Andersen Cardiodysrhythmic Periodic Paralysis
Joint laxity, Short metacarpal, Toe syndactyly, Scapular winging, Micrognathia, Delayed skeletal ... OMIM:170390
Pseudohypoparathyroidism, Type Ic
Short metacarpal, Short neck, Short metatarsal, Osteoporosis, Hypogonadism, Brachydactyly OMIM:612462
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... OMIM:602418
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognathia, Flat ca... OMIM:147891
Arms, Malformation Of
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius OMIM:107900
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Temtamy Preaxial Brachydactyly Syndrome
Micrognathia, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syn... ORPHA:363417
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the hand, Short 5th metacarpal, Brachydactyly ORPHA:1264
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... ORPHA:2911
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Abnormal vertebra... ORPHA:95699
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, E... ORPHA:2249
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spondyloepimetaphyseal Dysplasia, Shohat Type
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Holt-Oram Syndrome
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Joint stiffn... ORPHA:392
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Lumbar int... OMIM:271510
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Narrow pelvis bone, Irregular vertebral endplates, Hypoplastic pelvis, Scol... OMIM:187760
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna ORPHA:1122
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Aplastic ... ORPHA:50945
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Flar... OMIM:602557
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Limitation of joint mobili... ORPHA:3265
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr... OMIM:218600
Auriculoosteodysplasia
Elbow dislocation, Hip dysplasia, Aplasia/Hypoplasia of the radius, Abnormal metacarpal morpholog... ORPHA:114
Pentasomy X
Camptodactyly of finger, Micrognathia, Small hand, Short foot, Radioulnar synostosis, Hip dysplas... ORPHA:11
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Becker Nevus Syndrome
Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Abnormalit... ORPHA:2378
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... OMIM:602080
Femoral-Facial Syndrome
Short femur, Micrognathia, Cryptorchidism, Abnormal sacrum morphology, Abnormal fibula morphology... ORPHA:1988
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Mi... OMIM:602471
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Micrognathia, Wrist swelling, Limitation of joint mobility, Osteolysis, ... ORPHA:2774
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology ORPHA:2730
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Preaxial polydactyly, Scoliosis, Spina bifida occulta, Abnorma... ORPHA:64754
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Lateral humeral condyle aplasia, Fibular hypoplasia... OMIM:164900
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Bilateral single transverse palmar creases, ... ORPHA:1001
Atelosteogenesis Type Iii
Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi... ORPHA:56305
Craniometaphyseal Dysplasia, Autosomal Dominant
Metaphyseal widening, Flared metaphysis, Abnormal pelvic girdle bone morphology, Sclerosis of sku... OMIM:123000
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Mic... ORPHA:1225
Chromosome 2Q37 Deletion Syndrome
Short metacarpal, Short fourth metatarsal, Short toe, Short phalanx of finger, Type E brachydactyly OMIM:600430
Spermatogenic Failure 17
Male infertility OMIM:617214
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly OMIM:132450
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... OMIM:184460
Camurati-Engelmann Disease
Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Coxa valga... ORPHA:1328
Coffin-Lowry Syndrome
Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Tapered finger, Kyphosis, De... ORPHA:192
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Abnormality of the vertebral ... OMIM:607634
Occipital Horn Syndrome
Joint laxity, Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Coxa val... OMIM:304150
3M Syndrome
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Microme... ORPHA:2616
Shashi-Pena Syndrome
Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Deep palmar crease, Sc... OMIM:617190
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Tibial... OMIM:304120
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, 11 pairs of ribs, Sandal gap, Short toe, Delayed skeletal maturation, Clinodactyly of... OMIM:617877
Cri-Du-Chat Syndrome
Microretrognathia, Syndactyly, Short metacarpal, Single transverse palmar crease, Short neck, Met... OMIM:123450
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Omodysplasia 2
Short humerus, Dyspareunia, Micrognathia, Cryptorchidism, Anterior wedging of T11, Fibular hypopl... OMIM:164745
Mycetoma
Back pain, Abnormality of the knee, Osteomyelitis, Abnormality of the hand, Osteoporosis, Abnorma... ORPHA:2583
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal form of the... ORPHA:2876
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Joint dislocation, Microretrognathia, Joint laxity, Short clavicles, Short 4th metacarpal OMIM:606220
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... OMIM:140000
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hume... ORPHA:93333
Ellis Van Creveld Syndrome
Micromelia, Capitate-hamate fusion, Delayed skeletal maturation, Cryptorchidism, Genu valgum, Abn... ORPHA:289
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, ... ORPHA:2928
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Hajdu-Cheney Syndrome
Osteopenia, Joint laxity, Kyphoscoliosis, Short neck, Micrognathia, Absent frontal sinuses, Crypt... OMIM:102500
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... OMIM:210720
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Supernumerary ribs, Scoliosis, Butter... OMIM:122600
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty... OMIM:276820
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Tapered finger, Short 3rd toe, Short thumb, Split hand, Intrinsic hand muscle atrophy, Short 4th ... OMIM:618569
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormal fi... ORPHA:3035
Enthesitis-Related Juvenile Idiopathic Arthritis
Back pain, Abnormal metatarsal morphology, Knee osteoarthritis, Enthesitis, Abnormal shoulder mor... ORPHA:85438
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
48,Xyyy Syndrome
Short neck, Azoospermia, Radioulnar synostosis, Male hypogonadism, Dislocated radial head ORPHA:99329
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Cone-shaped epiphysis, Short foot, ... OMIM:157800
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Short neck, Micrognathia, Abnormality of the elbow, Limitation of joint mobi... ORPHA:1486
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Hypogonadotropic hypogonadism,... ORPHA:570
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius ORPHA:1765
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Holoprosencephaly, Semilobar, With Craniosynostosis
Coxa valga, Hypoplastic vertebral bodies, Lambdoidal craniosynostosis, Coronal craniosynostosis, ... OMIM:601370
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Abn... ORPHA:249
Robinow Syndrome, Autosomal Recessive 1
Short neck, Micrognathia, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... OMIM:268310
Catel-Manzke Syndrome
Joint dislocation, Short humerus, Short metacarpal, Short femur, Joint laxity, Single transverse ... OMIM:616145
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Bone pain, Ricket... OMIM:307800
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Cryptorchidism, Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Brachydactyly OMIM:614684
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Phocomelia, Vertebral segmentation defect, Split hand, Foot polydactyly ORPHA:3004
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Abnormal bone ossification, H... ORPHA:93315
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Cleidocranial Dysplasia 2
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delayed ossificat... OMIM:620099
Pseudohypoparathyroidism Type 1C
Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Hypergonadotropic hypog... ORPHA:79444
Marshall Syndrome
Radial bowing, Coxa valga, Hypoplastic ilia, Micrognathia, Ulnar bowing, Irregular femoral epiphy... OMIM:154780
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Frontometaphyseal Dysplasia 2
Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Elbow... OMIM:617137
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath... OMIM:227270
Nance-Horan Syndrome
Short metacarpal ORPHA:627
Oslam Syndrome
Clinodactyly, Radioulnar synostosis, Radial deviation of finger OMIM:165660
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Abruzzo-Erickson Syndrome
Radioulnar synostosis OMIM:302905
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Autosomal Dominant Omodysplasia
Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Cryptorchidism, Patellar dislocation,... ORPHA:93328
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Basal Cell Nevus Syndrome 1
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Palmar pits, Irregular ossification of ... OMIM:109400
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Short neck, Micrognathia, Cryptorchidism, Camptodactyly, Absent pal... OMIM:614230
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Weill-Marchesani Syndrome 2
Short metacarpal, Lumbar hyperlordosis, Joint stiffness, Delayed skeletal maturation, Short metat... OMIM:608328
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Simpson-Golabi-Behmel Syndrome, Type 1
Accelerated skeletal maturation, Vertebral segmentation defect, Narrow greater sciatic notch, Sho... OMIM:312870
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Epiphyseal stippling, Talipes equinovarus, Arthrogryposis multiplex congenita, ... ORPHA:86822
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Joint laxity, Short neck, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabul... OMIM:610442
Mietens Syndrome
Hypoplasia of the ulna, Coxa valga, Metatarsus adductus, Avascular necrosis of the capital femora... ORPHA:2557
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis involvin... ORPHA:371428
Arteriosclerosis, Severe Juvenile
Hip dysplasia, Dysplasia of second lumbar vertebra, Short phalanx of finger OMIM:208060
Rothmund-Thomson Syndrome Type 2
Osteopenia, Joint dislocation, Short metacarpal, Aplasia/hypoplasia involving bones of the upper ... ORPHA:221016
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... OMIM:135750
Van Maldergem Syndrome 1
Osteopenia, Joint laxity, Short fourth metatarsal, Wide cranial sutures, Sacral dimple, Micrognat... OMIM:601390
Bartsocas-Papas Syndrome 1
Short neck, Micrognathia, Bilateral cryptorchidism, Flexion contracture, Hypoplastic iliac wing, ... OMIM:263650
Fanconi Anemia, Complementation Group U
Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap... OMIM:617247
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Short neck, Micrognathi... ORPHA:2879
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short 5th metacarpal ORPHA:66518
Acrocraniofacial Dysostosis
Craniosynostosis, Tapered finger, Coxa valga, Micrognathia, Abnormal form of the vertebral bodies... ORPHA:949
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Short metacarpal, Craniosynostosis, Micrognathia, Metaphyseal chondrodysplasia, Cr... ORPHA:166035
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrocele testis, Radioulnar synostosis, Short middle phalanx of the 4th finger, Overlapping fing... OMIM:616738
Vacterl Association With Hydrocephalus
Radial club hand, Abnormality of the vertebral column, Abnormal vertebral morphology, Absent thumb OMIM:276950
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Rhizomelia, Pterygium, Micromelia, Craniosynostosis, Elbow dis... ORPHA:93329
Rothmund-Thomson Syndrome Type 1
Osteopenia, Short metacarpal, Premature ovarian insufficiency, Metaphyseal sclerosis, Cryptorchid... ORPHA:221008
Van Maldergem Syndrome 2
Osteopenia, Joint laxity, Short fourth metatarsal, Ulnar deviation of the hand, Wide cranial sutu... OMIM:615546
Geleophysic Dysplasia 1
Short palm, Osteopenia, Camptodactyly of finger, Coxa valga, Joint stiffness, Short foot, Short l... OMIM:231050
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Femoral bowing, Knee flexio... OMIM:600920
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Developmental And Epileptic Encephalopathy 95
Joint laxity, Short digit, Short fourth metatarsal, Multiple joint contractures, Single transvers... OMIM:618143
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse... OMIM:607323
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Oligodactyly, Humeroradial synostosis, Arachnodactyly, Craniosynostosis OMIM:614416
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abn... ORPHA:75508
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossific... OMIM:210710
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Short neck, Micrognathia, Cryptorchidism, Humeroradial synostosi... ORPHA:3404
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Rhizomelia, Micrognathia, Flexion contracture, Epiphyseal stippling, A... OMIM:222765
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Metaphyseal dysplasia, Short metacarpal, Craniosynostosis, Micrognathia, Metaphyseal chondrodyspl... OMIM:250410
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent... OMIM:119600
Pseudohypoparathyroidism Type 1A
Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Hypergonadotropic hypog... ORPHA:79443
Multiple Synostoses Syndrome 4
Overlapping toe, Tarsal synostosis, Brachydactyly OMIM:617898
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Craniosynostosis, Cryptorchidism, Ulnar bo... OMIM:201750
Odontotrichoungual-Digital-Palmar Syndrome
Single transverse palmar crease, Short first metatarsal, Prominent interdigital folds, Short dist... OMIM:601957
Coxoauricular Syndrome
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... ORPHA:1508
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Multiple prenatal frac... OMIM:166210
Refsum Disease
Abnormal epiphysis morphology, Short metacarpal, Hammertoe ORPHA:773
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Cryptorch... ORPHA:3138
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Waardenburg Syndrome, Type 1
Supernumerary ribs, Supernumerary vertebrae OMIM:193500
Qazi-Markouizos Syndrome
Dysharmonic bone age, Cryptorchidism, Delayed ossification of carpal bones, Tapered finger ORPHA:3010
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... ORPHA:1112
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Cryptorchidis... OMIM:146510
Nicolaides-Baraitser Syndrome
Long toe, Hallux valgus, Short metacarpal, Enlarged joints, Sandal gap, Single transverse palmar ... OMIM:601358
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Hip dislocation, Osteoporosis, ... OMIM:616507
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Joint stiffness, Spinal... ORPHA:2062
Stuve-Wiedemann Syndrome 1
Enlarged joints, Single transverse palmar crease, Short neck, Micrognathia, Tibial bowing, Femora... OMIM:601559
Cousin Syndrome
Short neck, Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... OMIM:260660
Contractures-Developmental Delay-Pierre Robin Syndrome
Arachnodactyly, Overlapping toe, Thoracolumbar scoliosis, Micrognathia, Metatarsus adductus, Shor... ORPHA:436003
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Short neck, Micrognathia, Kyphos... ORPHA:958
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Char Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Symphalangism of the 5th ... ORPHA:46627
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormal metacarpophalangeal joint morphology, Abnormality of the cervical spine, Ankle swelling,... ORPHA:85408
Dihydropyrimidinase Deficiency
Short phalanx of finger, Talipes equinovarus OMIM:222748
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Mucolipidosis Ii Alpha/Beta
Osteopenia, Micrognathia, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the o... OMIM:252500
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Flexion contracture, F... OMIM:207410
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o... OMIM:614900
Wiedemann-Steiner Syndrome
Joint laxity, Sacral dimple, Tapered finger, Accelerated skeletal maturation, Contracture of the ... OMIM:605130
Lenz-Majewski Hyperostotic Dwarfism
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of the midd... OMIM:151050
3Mc Syndrome
Craniosynostosis, Hyperlordosis, Bilateral cryptorchidism, Hip dislocation, Radioulnar synostosis... ORPHA:293843
Floating-Harbor Syndrome
Joint laxity, 11 pairs of ribs, Brachydactyly, Ivory epiphyses of the distal phalanges of the han... OMIM:136140
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Multiple joint contractures, Short neck, Metaphyseal widening, Irregular vertebral endplates, Met... ORPHA:99646
Oculofaciocardiodental Syndrome
Short thumb, 2-3 toe syndactyly, Broad palm, Genu valgum, Hammertoe, Flexion contracture of the 2... ORPHA:2712
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Hemivertebrae, Punctate vertebral ... OMIM:302960
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Accelerated skeletal maturation, Short neck, Micrognathia, Multiple joint dislocation... OMIM:245600
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Cartilage-Hair Hypoplasia
Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Me... OMIM:250250
Acrofrontofacionasal Dysostosis 1
Short metacarpal, Acetabular dysplasia, Broad thumb, Short distal phalanx of finger OMIM:201180
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... OMIM:184705
Caudal Regression Syndrome
Joint stiffness, Missing ribs, Cryptorchidism, Abnormal iliac wing morphology, Aplasia/Hypoplasia... ORPHA:3027
Focal Dermal Hypoplasia
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifid... OMIM:305600
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Scolios... OMIM:619269
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Triphalangeal thumb, Clino... ORPHA:84
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Single transverse palma... OMIM:303600
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Multiple joint contractures, Single transverse palmar crease, Micr... ORPHA:536471
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Radial bowing OMIM:617993
Cardiofaciocutaneous Syndrome
Abnormal morphology of ulna, Short neck, Cryptorchidism, Genu valgum, Deep palmar crease, Palmopl... ORPHA:1340
Ulnar Agenesis And Endocardial Fibroelastosis
Hand oligodactyly, Aplasia of the ulna OMIM:276822
Oslam Syndrome
Clinodactyly of the 5th finger, Radioulnar synostosis ORPHA:2760
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Joint dislocation, Genu recurvatum, Single transverse palmar crease, Accelerated skel... OMIM:130070
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Toe syndactyly, Micrognathia, Cryptorchidism, Delayed skeletal maturation, Sho... ORPHA:264200
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... OMIM:114290
Aspartylglucosaminuria
Abnormal morphology of ulna, Joint stiffness, Delayed skeletal maturation, Arthritis, Anterior be... ORPHA:93
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo... ORPHA:536467
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Micrognathia, Missi... OMIM:200980
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
W Syndrome
Hypoplasia of the ulna, Radial bowing, Metatarsus adductus, Elbow dislocation, Camptodactyly, Cub... ORPHA:2804
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... OMIM:134780
3Mc Syndrome 2
Limited elbow movement, Craniosynostosis, Cryptorchidism, Hip dislocation, Radioulnar synostosis,... OMIM:265050
Floating-Harbor Syndrome
11 pairs of ribs, Short metacarpal, Brachydactyly, Enlarged joints, Kyphoscoliosis, Short neck, A... ORPHA:2044
Frank-Ter Haar Syndrome
Osteopenia, Bowing of the long bones, Delayed cranial suture closure, Anterior concavity of thora... OMIM:249420
45,X/46,Xy Mixed Gonadal Dysgenesis
Hallux valgus, Male infertility, Streak ovary, Unilateral cryptorchidism, Micrognathia, Bilateral... ORPHA:1772
Al-Gazali Syndrome
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Bi... OMIM:609465
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Rhizomelic arm shortening, Short metacarpal, Short humerus, Brachydactyly ORPHA:508542
Ventriculomegaly With Defects Of The Radius And Kidney
Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb OMIM:602200
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Peters-Plus Syndrome
Single transverse palmar crease, Proximal placement of thumb, Limited elbow movement, Short neck,... OMIM:261540
Cornelia De Lange Syndrome
Toe syndactyly, Abnormal morphology of ulna, Micromelia, Proximal placement of thumb, Joint stiff... ORPHA:199
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Dermatoglyphic ridges abnorma... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Dermatoglyphic ridges abnorma... ORPHA:99228
Monosomy X
Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Dermatoglyphic ridges abnorma... ORPHA:99226
Turner Syndrome
Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Dermatoglyphic ridges abnorma... ORPHA:881
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of... OMIM:208500
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Abnormal hand morphology, Small hand, Azoospermia, Broad finger, ... OMIM:300845
Ring Chromosome 12 Syndrome
Syndactyly, Lumbar hyperlordosis, Cryptorchidism, Abnormal 5th finger morphology, Symphalangism o... ORPHA:1439
Ulnar-Mammary Syndrome
Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ... OMIM:181450
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph... OMIM:154400
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short metacarpal, Sacral dimple, Short neck, Short metatarsal, Cubitus valgus, Short distal phala... OMIM:617157
Spastic Paraplegia 9A, Autosomal Dominant
Delayed skeletal maturation, Abnormal pelvic girdle bone morphology, Carpal bone hypoplasia OMIM:601162
Trichorhinophalangeal Syndrome, Type Ii
Osteopenia, Syndactyly, Short metacarpal, Scapular winging, Single transverse palmar crease, Thor... OMIM:150230
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Rothmund-Thomson Syndrome
Osteopenia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the patella, Short thumb, Reduced bone ... ORPHA:2909
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
3Mc Syndrome 3
Sacral dimple, Cryptorchidism, Preaxial polydactyly, Radioulnar synostosis, Clinodactyly OMIM:248340
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Sacral dimple, Short neck, Micrognathia, Kyphosis, Cryptorchidism, Mesomelia, Scolios... OMIM:616894
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Luscan-Lumish Syndrome
Irregular menstruation, Advanced ossification of carpal bones OMIM:616831
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Aromatase Deficiency
Osteopenia, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Femal... ORPHA:91
Pallister-Hall Syndrome
Hemivertebrae, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Cryptorchidism, Polydacty... ORPHA:672
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus... ORPHA:3186
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Oligozoospermia, Macroorchidism, Accelerated skeletal maturation ORPHA:3000
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short toe, Delayed ossification of carpal bones, Short distal phalanx of finger, Tapered finger OMIM:239300
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Polydactyly, Complete duplication of thumb phalanx, Short p... ORPHA:59315
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
47,Xyy Syndrome
Male infertility, Cryptorchidism, Oligozoospermia, Finger clinodactyly, Azoospermia, Macroorchidism ORPHA:8
Mandibuloacral Dysplasia With Type B Lipodystrophy
Micrognathia, Flexion contracture, Progressive clavicular acroosteolysis, Osteolytic defects of t... OMIM:608612
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Ablepharon-Macrostomia Syndrome
Short metacarpal, Toe syndactyly, Cutaneous finger syndactyly, Talipes equinovarus, Camptodactyly... OMIM:200110
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Crypt... OMIM:227650
Mckusick-Kaufman Syndrome
Finger syndactyly, Tarsal synostosis, Cryptorchidism, Postaxial hand polydactyly, Postaxial foot ... ORPHA:2473
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Long fibula ORPHA:935
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Nance-Horan Syndrome
Short phalanx of finger, Broad finger OMIM:302350
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Flexion contracture, Palmoplantar keratoderma, Short ... ORPHA:2908
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Short neck, Micrognathia, Short metatarsal, Clinodactyly of the 5th finger, Short pha... OMIM:266920
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Tarsal synostosis, Aplastic clavicle, Micrognathia, Kyphosis, Delayed skeletal maturation, Corona... ORPHA:85199
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Joint laxity, Delayed closure of the anterior fontanelle, Micrognathia, Short toe, Re... OMIM:225410
Genitopatellar Syndrome
Hip contracture, Congenital hip dislocation, Micrognathia, Cryptorchidism, Patellar aplasia, Infe... OMIM:606170
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Vater/Vacterl Association
Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Radioulna... OMIM:192350
Primary Ciliary Dyskinesia
Male infertility, Clubbing, Abnormal sperm motility, Female infertility ORPHA:244
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Hallux valgus, Joint laxity, Kyphoscoliosis, Bilateral cryptorchidism, Cryptorchidism, Synostosis... ORPHA:466791
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Roberts-Sc Phocomelia Syndrome
Short neck, Micrognathia, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion co... OMIM:268300
Orofaciodigital Syndrome Type 1
Finger syndactyly, Tarsal synostosis, Micrognathia, Preaxial hand polydactyly, Short toe, Postaxi... ORPHA:2750
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Menkes Disease
Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Micrognathia, Os... ORPHA:565
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Noonan Syndrome 1
Male infertility, Kyphoscoliosis, Short neck, Micrognathia, Cryptorchidism, Synovitis, Hypogonadi... OMIM:163950
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Craniosynostosis And Dental Anomalies
Hallux valgus, Prominent metopic ridge, Broad hallux, Sagittal craniosynostosis, 2-3 toe syndacty... OMIM:614188
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Abnormal calcifica... ORPHA:51608
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Delayed skeletal maturation, Irregular menstruation, ... ORPHA:90793
Cystinosis, Nephropathic
Male infertility, Metaphyseal widening, Delayed skeletal maturation, Rickets, Genu valgum, Hypoph... OMIM:219800
Cystic Fibrosis
Male infertility, Clubbing of fingers OMIM:219700
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Pallister-Killian Syndrome
Congenital hip dislocation, Single transverse palmar crease, Short neck, Micrognathia, Flexion co... OMIM:601803
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... ORPHA:251510
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction ORPHA:90797

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 Hoxd11

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 Hoxd11.

No publications found that use IMPC mice or data for Hoxd11.

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
Hoxd11tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter