Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
NK3 homeobox 2
Synonyms:
Nkx-3.2,  Bapx1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Nkx3-2 mutations

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

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

The table below shows human diseases associated to Nkx3-2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Pectus carinatum, Hip dislocation, Genu valgum, Butterfly vertebrae, Delayed pubic bone ossificat... OMIM:613330

The table below shows human diseases predicted to be associated to Nkx3-2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cervical Vertebral Bridge
Abnormality of the vertebral column OMIM:118000
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Bilateral conductive hearing impairment, Absent stapes head, Abnormality of the malleus, Congenit... OMIM:128980
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Deafness, Progressive, With Stapes Fixation
Bilateral conductive hearing impairment, Stapes ankylosis OMIM:601449
Progressive Deafness With Stapes Fixation
Bilateral conductive hearing impairment, Stapes ankylosis ORPHA:3235
Ossicular Malformations, Familial
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment OMIM:165680
Deafness-Ear Malformation-Facial Palsy Syndrome
Aplasia/Hypoplasia of the earlobes, Hypoplasia of the antihelix, Conductive hearing impairment, A... ORPHA:3232
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Spondyloepiphyseal Dysplasia Tarda
Hypoplasia of the odontoid process, Limitation of joint mobility, Premature osteoarthritis, Barre... ORPHA:93284
Deafness, Conductive, With Malformed External Ear
Low-set ears, Abnormality of the middle ear ossicles, Conductive hearing impairment, Abnormal pin... OMIM:221300
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Childh... OMIM:184100
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplastic scapulae, Hypoplasia of the odontoid process, Atlantoaxial instability... OMIM:607326
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis OMIM:616566
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... OMIM:313400
Lethal Kniest-Like Dysplasia
Platyspondyly, Narrow chest, Abnormal cartilage morphology, Mesomelic/rhizomelic limb shortening,... ORPHA:2347
Osteogenesis Imperfecta, Type Xxi
Platyspondyly, Disproportionate short-limb short stature, Bell-shaped thorax, Barrel-shaped chest... OMIM:619131
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Osteopenia, Thin ribs, Disproportionate short-limb short stature, Recurrent fractu... OMIM:610915
Spinal Dysplasia, Anhalt Type
Thoracic hemivertebrae, Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the s... OMIM:601344
Chst3-Related Skeletal Dysplasia
Rhizomelia, Abnormal form of the vertebral bodies, Genu valgum, Barrel-shaped chest, Intervertebr... ORPHA:263463
Spondyloperipheral Dysplasia
Barrel-shaped chest, Short neck, Flat acetabular roof, Short distal phalanx of the 5th finger, Sh... OMIM:271700
Greenberg Dysplasia
Fractured rib, Supernumerary vertebral ossification centers, Hepatosplenomegaly, Micrognathia, Ba... OMIM:215140
Spondyloepiphyseal Dysplasia Congenita
Genu valgum, Micrognathia, Barrel-shaped chest, Limited elbow movement, Short neck, Disproportion... ORPHA:94068
Brachyolmia Type 3
Platyspondyly, Short femoral neck, Childhood-onset short-trunk short stature, Barrel-shaped chest... OMIM:113500
Smith-Mccort Dysplasia 2
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Genu valgum, Enlarged interp... OMIM:615222
Anauxetic Dysplasia 1
Severe short stature, Atlantoaxial dislocation, Rhizomelia, Platyspondyly, Short toe, Short finge... OMIM:607095
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Pectus carinatum, Hip dislocation, Hypoplasia of the odontoid process, Atlantoaxia... OMIM:183900
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Postnatal... OMIM:223800
Conductive Deafness-Malformed External Ear Syndrome
Low-set ears, Conductive hearing impairment, Stenosis of the external auditory canal, Overfolded ... ORPHA:3216
Vertebral Hypoplasia With Lumbar Kyphosis
Lumbar kyphosis, Vertebral hypoplasia OMIM:192900
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Platyspondyly, Shortening of all middle phalanges of the fingers, Hypoplasia of the odontoid proc... OMIM:226980
Spondylometaphyseal Dysplasia, Corner Fracture Type
Pectus carinatum, Hypoplasia of the odontoid process, Short femoral neck, Hyperconvex vertebral b... OMIM:184255
Brachyolmia, Maroteaux Type
Platyspondyly, Abnormal form of the vertebral bodies, Short thorax, Short stature, Pectus excavat... ORPHA:93302
Infantile Liver Failure Syndrome 3
Platyspondyly, Hepatic bridging fibrosis, Cholestasis, Abnormal acetabulum morphology, Hepatic st... OMIM:618641
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Severe limb shortening, Bell-shaped thorax, Ba... OMIM:200600
Richieri Costa-Da Silva Syndrome
Pectus carinatum, Vertebral wedging, Decreased anterioposterior diameter of lumbar vertebral bodi... ORPHA:3101
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Delayed epiphyseal ossification, Disproportionate short-limb short stature, Microm... OMIM:602557
Gurrieri Syndrome
Short stature, Hypoplastic acetabulae, Decreased anterioposterior diameter of lumbar vertebral bo... OMIM:601187
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Barrel-shaped chest, Short neck, Tarsal synostosis, Pectus ca... OMIM:178110
Metatropic Dysplasia
Severe short stature, Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebra... ORPHA:2635
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormal vertebral morphology, Abnormality of the ankle, Abnormality of the knee, ... ORPHA:163665
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Rhizomelia, Short finger, Lumbar hyperlordosis, Barrel-shaped chest, Joint hypermo... OMIM:612813
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Primary Basilar Invagination
Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck ORPHA:2285
Gm1-Gangliosidosis, Type I
Severe short stature, Intrauterine growth retardation, Joint stiffness, Splenomegaly, Thickened r... OMIM:230500
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... OMIM:611572
Dysosteosclerosis
Platyspondyly, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Hypoplastic verte... ORPHA:1782
Achondrogenesis, Type Ii
Microretrognathia, Disproportionate short-limb short stature, Absent vertebral body mineralizatio... OMIM:200610
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Platyspondyly, Pectus carinatum, Lumbar hyperlordosis, Thoracic kyphosis, Genu valgum, Interverte... OMIM:609223
Axial Spondylometaphyseal Dysplasia
Disproportionate short-trunk short stature, Flat acetabular roof, Osteopenia, Aplasia/Hypoplasia ... ORPHA:168549
Dysosteosclerosis
Platyspondyly, Osteopenia, Narrow chest, Disproportionate short stature, Absent paranasal sinuses... OMIM:224300
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Otosclerosis 11
Absence of acoustic reflex, Otosclerosis, Conductive hearing impairment, Sensorineural hearing im... OMIM:620576
Opsismodysplasia
Severe short stature, Narrow chest, Joint stiffness, Splenomegaly, Hypoplastic vertebral bodies, ... ORPHA:2746
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Osteopenia, Pectus carinatum, Sclerotic foci of metaphyses of the elbow, Kyphosis,... OMIM:271530
Atresia Of External Auditory Canal And Conductive Deafness
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... OMIM:108760
Spondyloepimetaphyseal Dysplasia, Shohat Type
Severe short stature, Abnormal vertebral morphology, Platyspondyly, Disproportionate short statur... ORPHA:93352
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Rhizomelia, Lumbar hyperlordosis, Barrel-shaped chest, Joint hypermobility, Short neck, Mesomelia ORPHA:171866
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Rhizomelia, Narrow chest, Conductive hearing impairment, Hearing impairment, Multi... OMIM:616229
Greenberg Dysplasia
Platyspondyly, Rhizomelia, Narrow chest, Abnormal form of the vertebral bodies, Micromelia, Abnor... ORPHA:1426
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Hip osteoarthritis, Schmorl's node, Joint stiffness, Knee osteoarthritis, Beaking ... OMIM:604864
Diastrophic Dysplasia
Neonatal short-limb short stature, Cervical kyphosis, Hypoplastic cervical vertebrae, Disproporti... OMIM:222600
Gm1-Gangliosidosis, Type Ii
Platyspondyly, Thoracolumbar kyphosis, Sea-blue histiocytosis, Joint stiffness, Splenomegaly, Hyp... OMIM:230600
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis, Short thorax, Short stature ORPHA:93304
Fucosidosis
Anterior beaking of thoracic vertebrae, Absent/hypoplastic paranasal sinuses, Cervical platyspond... OMIM:230000
Fibrochondrogenesis 1
Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Small hand, Short neck, Anterior ... OMIM:228520
Osteogenesis Imperfecta, Type Xx
Low-set ears, Asymmetry of the thorax, Crumpled ear, Narrow chest, Disproportionate short-limb sh... OMIM:618644
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Elbow dislocation, Hypoplastic vertebral bodies, Hemiverte... ORPHA:2916
Spondyloenchondrodysplasia With Immune Dysregulation
Platyspondyly, Rheumatoid arthritis, Juvenile rheumatoid arthritis, Lumbar hyperlordosis, Scleros... OMIM:607944
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Vertebral wedging, Genu varum, Advanced ossification of carpal bones, Flat acetabu... OMIM:617719
Fibrodysplasia Ossificans Progressiva
Short 1st metacarpal, Small cervical vertebral bodies, Ectopic ossification in ligament tissue, P... OMIM:135100
Osteogenesis Imperfecta, Type Xi
Vertebral wedging, Hearing impairment, Biconcave vertebral bodies, Kyphoscoliosis, Wormian bones,... OMIM:610968
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Platyspondyly, Irregular acetabular roof, Short stature, Reduced bone mineral density, Genu varum... OMIM:617974
Geroderma Osteodysplastica
Severe short stature, Platyspondyly, Pectus carinatum, Abnormal form of the vertebral bodies, Bic... ORPHA:2078
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Vertebral wedging, Stiff neck, Joint stiffness, Kyphoscoliosis, Beaking of vertebr... OMIM:616583
Anauxetic Dysplasia 2
Posterior wedging of vertebral bodies, Intrauterine growth retardation, Hypoplasia of the femoral... OMIM:617396
Holoprosencephaly, Semilobar, With Craniosynostosis
Hypoplastic vertebral bodies, Lambdoidal craniosynostosis, Coronal craniosynostosis, Short distal... OMIM:601370
Brachydactylous Dwarfism, Mseleni Type
Severe short stature, Hip osteoarthritis, Platyspondyly, Abnormality of the ankle, Osteoarthritis... ORPHA:2619
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Rhizomelia, Narrow chest, Thoracic hypoplasia, Short femoral neck, Splenomegaly, D... OMIM:602271
Osteogenesis Imperfecta, Type X
Platyspondyly, Thin ribs, Rhizomelia, Narrow chest, Thoracic hypoplasia, Broad ribs, Genu valgum,... OMIM:613848
Dysspondyloenchondromatosis
Platyspondyly, Anisospondyly, Joint dislocation, Genu valgum, Vertebral segmentation defect, Kyph... ORPHA:85198
Opsismodysplasia
Rhizomelia, Hypoplasia of the odontoid process, Disproportionate short-limb short stature, Narrow... OMIM:258480
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Disproportionate short-limb short stature, Recurrent fractures, ... OMIM:259440
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious... OMIM:271630
Spondylocamptodactyly Syndrome
Platyspondyly, Scoliosis ORPHA:3180
Odontoid Hypoplasia
Hypoplasia of the odontoid process, Cervical instability, Atlantoaxial instability, Dystopic os o... OMIM:613628
Spondylometaphyseal Dysplasia, Type A4
Severe short stature, Platyspondyly, Pectus carinatum, Disproportionate short-limb short stature,... OMIM:609052
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Genu valgum, Genu varum, Proportionate short stature OMIM:608361
Acrodysplasia Scoliosis
Spina bifida occulta, Scoliosis, Vertebral segmentation defect ORPHA:2956
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Radioulnar synostosis, Abnormal rib morphology, Short stature, Scoliosis, Abnor... ORPHA:3268
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Ankylosis, Recurrent fractures, Short humerus, Barrel... OMIM:239000
Brachytelephalangic Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Postnatal growth retar... ORPHA:79345
Atelosteogenesis, Type I
Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax, Neonatal death, Short neck,... OMIM:108720
Spondylometaphyseal Dysplasia, A4 Type
Severe short stature, Platyspondyly, Limitation of joint mobility, Micromelia, Flared, irregular ... ORPHA:168555
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Osteopenia, Pathologic fracture, Recurrent fractures, Increased susceptibility to ... OMIM:259770
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Elbow dislocation, Genu valgum, Barrel-shaped chest, Intervertebral space narrowing, Narrow verte... OMIM:143095
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na... ORPHA:93315
Cervical Vertebrae, Agenesis Of
Cervical vertebral agenesis OMIM:214290
Spondylometaphyseal Dysplasia, X-Linked
Severe short stature, Platyspondyly, Pectus carinatum, Short finger, Sclerosis of skull base, Hip... OMIM:313420
Stapes Ankylosis With Broad Thumbs And Toes
Congenital stapes ankylosis, Conductive hearing impairment, Stapes ankylosis OMIM:184460
Mycetoma
Abnormal form of the vertebral bodies, Abnormal thorax morphology, Abnormality of the lymphatic s... ORPHA:2583
Avascular Necrosis Of Femoral Head, Primary, 2
Short stature, Platyspondyly OMIM:617383
Diastrophic Dysplasia
Neonatal short-limb short stature, Hypoplastic cervical vertebrae, Abnormal form of the vertebral... ORPHA:628
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Severe short stature, Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and... ORPHA:99642
Perching Syndrome
Respiratory distress, High palate, Scoliosis OMIM:617055
Osteogenesis Imperfecta, Type Vii
Rhizomelia, Narrow chest, Delayed cranial suture closure, Protrusio acetabuli, Hearing abnormalit... OMIM:610682
Spondylosis, Cervical
Spina bifida occulta, Spondylolysis, Spondylolisthesis, Cervical spondylosis OMIM:184300
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Pectus carinatum, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short nec... OMIM:184095
Symphalangism, Proximal, 1A
Conductive hearing impairment, Stapes ankylosis OMIM:185800
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Delayed cranial suture closure, Respiratory distress, Micrognathia, Median cleft pa... ORPHA:1832
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Hypersplenism, Hepatosplenomegaly, Portal hypertension, Splen... ORPHA:77259
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
High, narrow palate, Pectus carinatum, Bifid uvula, Tall stature, Cryptorchidism, Kyphoscoliosis,... OMIM:309583
Acromesomelic Dysplasia, Maroteaux Type
Acromesomelia, Disproportionate short stature, Vertebral wedging, Abnormal form of the vertebral ... ORPHA:40
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Metatropic Dysplasia
Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Disproportionate short-trunk s... OMIM:156530
Acrodysostosis 1 With Or Without Hormone Resistance
Disproportionate short-limb short stature, Spinal canal stenosis, Intrauterine growth retardation... OMIM:101800
Osteogenesis Imperfecta, Type Vi
Hearing impairment, Biconcave vertebral bodies, Beaking of vertebral bodies, Vertebral compressio... OMIM:613982
Renal, Genital, And Middle Ear Anomalies
Abnormality of the middle ear ossicles, Hearing impairment OMIM:267400
Progressive Pseudorheumatoid Arthropathy Of Childhood
Infancy onset short-trunk short stature, Joint contracture of the hand, Limitation of joint mobil... ORPHA:1159
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Premature osteoarthritis, In... ORPHA:93314
Atelosteogenesis, Type Ii
Platyspondyly, Cervical kyphosis, Micromelia, Thoracic hypoplasia, Lacunar halos around chondrocy... OMIM:256050
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:609813
Holoprosencephaly-Craniosynostosis Syndrome
Short stature, Craniosynostosis, Short distal phalanx of finger, Hypoplastic vertebral bodies ORPHA:2163
Scarf Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Pectus carinatum, Abnormal form of the ver... OMIM:312830
Pyle Disease
Platyspondyly, Absent paranasal sinuses, Genu valgum, Limited elbow extension, Reduced bone miner... OMIM:265900
Osteogenesis Imperfecta, Type V
Platyspondyly, Osteopenia, Vertebral wedging, Anterior radial head dislocation, Biconcave vertebr... OMIM:610967
Otosclerosis 4
Mixed hearing impairment, Otosclerosis OMIM:611571
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Platyspondyly, Postnatal growth retardation, Anemia, Scoliosis, Genu varum OMIM:618728
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Umbilical hernia, Biconcave vertebral bodies, Wormian bones, Vertebral compression fra... OMIM:617952
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Platyspondyly, Genu valgum, Irregularity of vertebral bodies, Short stature, Short femoral neck OMIM:609324
Gm1 Gangliosidosis Type 1
Platyspondyly, Pectus carinatum, Beaking of vertebral bodies T12-L3, Intrauterine growth retardat... ORPHA:79255
Brachyolmia Type 2
Short stature, Platyspondyly OMIM:613678
Myasthenic Syndrome, Congenital, 19
Pectus carinatum, Micrognathia, Barrel-shaped chest, Distal joint hypermobility, Spinal rigidity OMIM:616720
Multiple Epiphyseal Dysplasia Type 5
Multiple small vertebral fractures, Premature osteoarthritis, Abnormal hip joint morphology, Genu... ORPHA:93311
Galactosialidosis
Abnormal vertebral morphology, Abnormality of the vertebral column ORPHA:351
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Abnormal vertebral segme... ORPHA:66637
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Joint stiffness, Hypoplastic vertebral bodies, Missing ribs, Sc... ORPHA:3027
Mucopolysaccharidosis, Type Iiid
Elbow flexion contracture, Joint stiffness, Splenomegaly, Thoracic scoliosis, Hypoplastic vertebr... OMIM:252940
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Micromelia, Proportionate short stature, Osteoarthritis, Short thorax ORPHA:93283
Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development
Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Otosclerosis 10
Otosclerosis OMIM:615589
Heart Defects-Limb Shortening Syndrome
Narrow chest, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rh... ORPHA:1354
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Hypoplastic sacrum, Upper limb undergrowth, Lumbar hyperlordosis... OMIM:271650
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Knee dislocation, Joint hypermobility, Lumbar ... OMIM:620269
Bruck Syndrome 1
Platyspondyly, Ankle flexion contracture, Pectus carinatum, Vertebral wedging, Pterygium, Elbow f... OMIM:259450
Congenital Alveolar Capillary Dysplasia
Abnormal vertebral morphology, Annular pancreas, Volvulus, Duodenal stenosis, Respiratory distres... ORPHA:210122
Cole-Carpenter Syndrome 1
Coronal craniosynostosis, Orbital craniosynostosis, Wormian bones, Short stature, Vertebral compr... OMIM:112240
Paternal Uniparental Disomy Of Chromosome X
Cubitus valgus, Short neck, Short stature, Shield chest, Short metacarpal ORPHA:261524
Shwachman-Diamond Syndrome
Abnormality of the outer ear, Aplastic anemia, Hearing impairment, Abnormal joint morphology, Hyp... ORPHA:811
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow chest, Disproportionate short-limb short stature, Abnormal form of t... ORPHA:3144
Geroderma Osteodysplasticum
Severe short stature, Platyspondyly, Biconcave vertebral bodies, Kyphoscoliosis, Wormian bones, B... OMIM:231070
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Small hand, Hypoplasia of the odontoid process, Irregularity of vertebral bodies, ... ORPHA:85172
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Joint dislocation, Micrognathia, Scoliosis OMIM:300934
Multiple Sulfatase Deficiency
Short stature, Hepatomegaly, Splenomegaly, Hypoplastic vertebral bodies OMIM:272200
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Pectus excavatum, Short neck, Shield chest, Thoracic scoliosis OMIM:616994
Morquio Syndrome C
Severe short stature, Platyspondyly OMIM:252300
Idiopathic Juvenile Osteoporosis
Vertebral compression fracture, Kyphosis ORPHA:85193
Mosaic Trisomy 9
Low-set ears, Elbow dislocation, Camptodactyly of finger, Intestinal malrotation, Intrauterine gr... ORPHA:99776
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Kyphoscoliosis OMIM:619099
Gaucher Disease, Type I
Hypersplenism, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Vertebral comp... OMIM:230800
Hajdu-Cheney Syndrome
Low-set ears, Conductive hearing impairment, Tall lumbar vertebral bodies, Large earlobe, Umbilic... OMIM:102500
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Death in adolescence, Thrombocytopenia, Stillbirth, Scoliosis OMIM:619751
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Short 5th metacarpal, Short middle phalanx of ... OMIM:156510
Sweeney-Cox Syndrome
Low-set ears, Crumpled ear, Narrow chest, Cupped ear, Hearing impairment, Velopharyngeal insuffic... OMIM:617746
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Genu valgum, Short stature, Pectu... ORPHA:166024
Spondyloocular Syndrome
Platyspondyly, Low-set ears, Pectus carinatum, Sensorineural hearing impairment, Shield chest, Sh... OMIM:605822
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Platyspondyly, Anisospondyly, Narrow chest, Hemiatrophy of upper limb, Micrognathia, Delayed pate... ORPHA:163649
Paget Disease Of Bone 2, Early-Onset
Vertebral compression fracture, Bilateral conductive hearing impairment, Sandwich appearance of v... OMIM:602080
Pseudodiastrophic Dysplasia
Platyspondyly, Rhizomelia, Elbow dislocation, Phalangeal dislocation, Scoliosis ORPHA:85174
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Osteoporosis, Platyspondyly, Kyphosis ORPHA:2786
Anauxetic Dysplasia 3
Severe short stature, Platyspondyly, Narrow chest, Short middle phalanx of finger, Genu valgum, J... OMIM:618853
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Disproportionate short-limb short st... ORPHA:93351
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Odontochondrodysplasia
Platyspondyly, Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia, Respiratory di... ORPHA:166272
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Respiratory distress, Elbow flexion contracture, Micrognathia, Acetabu... ORPHA:1143
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short stature, Short neck, Micrognathia, Abnormal vertebral morphology ORPHA:2015
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Platyspondyly, Thin ribs, Multiple joint dislocation, Short femoral neck, Knee dislocation, Joint... OMIM:618395
Legg-Calvé-Perthes Disease
Short stature, Joint dislocation, Cartilage destruction ORPHA:2380
Pseudodiastrophic Dysplasia
Severe short stature, Platyspondyly, Rhizomelia, Hypoplasia of the odontoid process, Elbow disloc... OMIM:264180
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Thoracic hypoplasia, Small cervical vertebral bodies, Cervical spinal canal stenosis, Rhizomelic ... ORPHA:397715
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Lower limb undergrowth, Kyphoscoliosis, Lumbar scoliosis, Short stature, Irregular... OMIM:612847
Chromosome 18P Deletion Syndrome
Short stature, Short neck, Micrognathia, Barrel-shaped chest OMIM:146390
Osteogenesis Imperfecta, Type Xvii
Platyspondyly, Hearing abnormality, Kyphoscoliosis, Short stature, Vertebral compression fracture... OMIM:616507
Multicentric Osteolysis, Nodulosis, And Arthropathy
Ankle flexion contracture, Carpal osteolysis, Interphalangeal joint contracture of finger, Hip co... OMIM:259600
Hypoglossia With Situs Inversus
Microglossia, Polysplenia, Respiratory distress, Micrognathia, Asplenia, High palate OMIM:612776
Cardiofacioneurodevelopmental Syndrome
Abdominal situs inversus, Micrognathia, Asplenia, Kyphosis, Cleft palate OMIM:619123
Ollier Disease
Platyspondyly, Micromelia, Abnormal cartilage morphology, Joint stiffness, Lymphangioma, Anemia, ... ORPHA:296
Autosomal Dominant Spondylocostal Dysostosis
Severe short stature, Short thorax, Intrauterine growth retardation, Vertebral segmentation defec... ORPHA:1797
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Ankle flexion contracture, Cervical spinal canal stenosis, Hip contracture, Knee flexion contract... OMIM:620232
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Fibular aplasia, Humeroradial synostosis, Aplasia/hypoplasia of the extremities, Barrel-shaped ch... OMIM:276820
Osteogenesis Imperfecta, Type Xiii
Platyspondyly, Pectus carinatum, Increased bone mineral density, Reduced bone mineral density, Ky... OMIM:614856
Dental Anomalies And Short Stature
Platyspondyly, Hypoplasia of the maxilla, Mandibular prognathia, Herniation of intervertebral nuc... OMIM:601216
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Short stature, Hip osteoarthritis, Platyspondyly, Osteoarthritis OMIM:271600
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Thin ribs, Bowing of limbs due to multiple fractures, Joint hypermobility, Short s... OMIM:615220
Spondylocostal Dysostosis 1, Autosomal Recessive
Severe short stature, Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Ky... OMIM:277300
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Pectus carinatum, Lumbar hyperlordosis, Joint stiffness, Hepatosplen... ORPHA:505248
Rhizomelic Dysplasia, Ain-Naz Type
Severe short stature, Platyspondyly, Rhizomelia, Limitation of joint mobility, Short humerus, Hyp... OMIM:619598
Osteogenesis Imperfecta
Thin ribs, Hearing impairment, Enlarged vertebral pedicles, Genu valgum, Intestinal obstruction, ... ORPHA:666
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Wormian bones, Limb undergrowth, Shortening of all metacarpals, Wide anterior font... OMIM:601356
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Kyphoscoliosis OMIM:617977
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Micrognathia, Death in infancy, High palate, Scoliosis OMIM:615042
Kyphomelic Dysplasia
Narrow chest, Disproportionate short stature, Limitation of joint mobility, Micromelia, Abnormal ... ORPHA:1801
Odontochondrodysplasia 1
Platyspondyly, Genu recurvatum, Mesomelia, Pectus carinatum, Biconvex vertebral bodies, Micromeli... OMIM:184260
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Disproportionate short stature, Lumbar hyperlordosis, Distal ulnar epiphyseal stip... OMIM:609616
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Respiratory distress, High palate, Scoliosis, Cleft palate OMIM:614399
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Severe platyspondyly, Sh... OMIM:620639
Maternal Uniparental Disomy Of Chromosome X
Camptodactyly of finger, Cubitus valgus, Short neck, Shield chest, Short stature, Flexion contrac... ORPHA:261519
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Severe short stature, Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Dispro... OMIM:184250
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Hypoplastic acetabulae, Kyphosis, Splenomegaly, Hepatomegaly, Short stature, Scoli... OMIM:230650
3M Syndrome
Thin ribs, Congenital hip dislocation, Micromelia, Enlarged thorax, Intrauterine growth retardati... ORPHA:2616
Fibrodysplasia Ossificans Progressiva
Abnormal vertebral morphology, Synostosis of joints, Limitation of joint mobility, Ectopic ossifi... ORPHA:337
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Rhizo-meso-acromelic limb shortening, Cuboid-shaped vertebral bodies, Cubitus valgus, Short neck,... ORPHA:163654
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Platyspondyly, Premature osteoarthritis, Cleft palate OMIM:184840
Saul-Wilson Syndrome
Platyspondyly, Short distal phalanx of finger, Pectus carinatum, Hypoplasia of the odontoid proce... OMIM:618150
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Sensorineural hearing impairment... ORPHA:2790
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Abnormal rib cage morphology, Pectus carinatum, Hypoplasia of the odontoid process... OMIM:184252
Gracile Bone Dysplasia
Thin ribs, Death in infancy, Decreased skull ossification, Short stature, Asplenia, Hypoplastic s... OMIM:602361
Multiple Epiphyseal Dysplasia, Beighton Type
Limitation of joint mobility, Short femoral neck, Thoracic platyspondyly, Abnormal hip joint morp... ORPHA:166011
Sillence Syndrome
Abnormal vertebral morphology, Platyspondyly, Short finger, Short middle phalanx of finger, Slend... ORPHA:3168
Bruck Syndrome 2
Platyspondyly, Osteopenia, Pectus carinatum, Elbow flexion contracture, Pterygium, Increased susc... OMIM:609220
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Hearing impairment, Abnormal shoulder morphology, Cervical C... ORPHA:2345
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Low-set ears, Pectus carinatum, Velopharyngeal insufficiency, Stapes ankylosis, Intestinal malrot... OMIM:614701
Kniest Dysplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Abnormal joint morphology, B... ORPHA:485
Pituitary Adenoma 4, Acth-Secreting
Vertebral compression fracture, Pituitary adenoma, Kyphosis, Biconcave vertebral bodies OMIM:219090
Schneckenbecken Dysplasia
Platyspondyly, Hypoplastic scapulae, Narrow chest, Disproportionate short-limb short stature, Tho... OMIM:269250
Bruck Syndrome
Platyspondyly, Arthrogryposis multiplex congenita, Pterygium, Joint stiffness, Recurrent fracture... ORPHA:2771
Fetal Akinesia Deformation Sequence 4
Low-set ears, 11 pairs of ribs, Cryptorchidism, Prenatal death, Neonatal death, Short neck, High ... OMIM:618393
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Respiratory distress, Temporomandibular joint ankylosis, Micrognathia, Dyspnea, Cle... ORPHA:141152
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ge... OMIM:177170
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Rhizomelia, Narrow chest, Abnormal clavicle morphology, Micrognathia, Decreased sk... ORPHA:93267
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Platyspondyly, Aplasia/hypoplasia involving bones of the extremities, Disproportionate short stat... ORPHA:1856
Hall-Riggs Syndrome
Platyspondyly, Hypoplasia of the primary teeth, Enamel hypoplasia, Scoliosis, Kyphosis, Irregular... OMIM:234250
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Disproportionate short-limb short stature, Micromelia, Thoracic hypoplasia, Poster... OMIM:608728
Chondroectodermal Dysplasia With Night Blindness
Platyspondyly, Osteopenia, Fractures of the long bones, Micrognathia, Abnormality of the knee, Sh... ORPHA:319195
Stormorken-Sjaastad-Langslet Syndrome
Short stature, Asplenia, Anemia ORPHA:3204
Kniest Dysplasia
Platyspondyly, Rhizomelia, Conductive hearing impairment, Umbilical hernia, Recurrent otitis medi... OMIM:156550
Autosomal Recessive Spondylocostal Dysostosis
Abnormal form of the vertebral bodies, Short thorax, Umbilical hernia, Low-set, posteriorly rotat... ORPHA:2311
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Congenital hip dislocation, Hypoplastic scapulae, Aplasia of the distal phalanx of the 3rd finger... OMIM:308050
Costello Syndrome
Pectus carinatum, Tracheomalacia, Micrognathia, Barrel-shaped chest, Limited elbow movement, Over... OMIM:218040
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Microtia, Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear OMIM:251800
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the tongue, Respiratory distress, Mi... ORPHA:2759
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Dyspnea, Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebra... OMIM:606842
Mucopolysaccharidosis, Type Iva
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Ulnar deviation of the wrist... OMIM:253000
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Recurrent otitis media, Asplenia OMIM:618948
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Small abnormally formed scapulae, Narrow chest, Micromelia, Lethal short-limbed sh... OMIM:187601
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Narrow chest, Coarse metaphyseal trabecularization, Thoracic platyspondyly, Death in childhood, I... OMIM:618961
Autosomal Recessive Stickler Syndrome
Platyspondyly, Micrognathia, Genu valgum, Cleft palate, Irregular vertebral endplates ORPHA:250984
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Thoracolumbar ... OMIM:113000
Pseudoaminopterin Syndrome
Hypoplasia of the antihelix, Synostosis of carpal bones, Sacrococcygeal pilonidal abnormality, Ab... ORPHA:221120
Spondylometaphyseal Dysplasia, Pagnamenta Type
Platyspondyly, Rhizomelia, Short 5th metacarpal, Wormian bones, Short 4th metacarpal, Thin bony c... OMIM:619638
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short stature, Osteoporosis, Platyspondyly ORPHA:71267
Cole-Carpenter Syndrome 2
Platyspondyly, Lambdoidal craniosynostosis, Coronal craniosynostosis, Microretrognathia, Osteopen... OMIM:616294
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Thin ribs, Rhizomelia, Distal shortening of limbs, Intrauterine growth retardation... OMIM:300863
Mandibulofacial Dysostosis-Microcephaly Syndrome
Low-set ears, Abnormality of the outer ear, Absent tragus, Conductive hearing impairment, Atresia... ORPHA:79113
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Aplasia/hypoplasia of the... ORPHA:93360
Stickler Syndrome Type 1
Platyspondyly, Hypoplasia of the maxilla, Abnormal vertebral epiphysis morphology, Osteoarthritis... ORPHA:90653
Porphyria, Congenital Erythropoietic
Cholelithiasis, Joint contracture of the hand, Reduced erythrocyte uroporphyrinogen III cosynthas... OMIM:263700
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Micrognathia, Long thorax, Mesomelia ORPHA:1277
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Recurrent fractures, Reduced bone mineral density, Biconcave flattened vertebrae, I... OMIM:166220
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Metaphyseal Chondrodysplasia, Schmid Type
Platyspondyly, Short distal phalanx of finger, Distal tibial bowing, Irregular acetabular roof, S... OMIM:156500
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies, Sacral dimple ORPHA:2064
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormal vertebral morphology, Platyspondyly, Carious teeth, Delayed ossification of carpal bones... ORPHA:93346
Osteogenesis Imperfecta, Type Iii
Thin ribs, Wide anterior fontanel, Neonatal short-limb short stature, Disproportionate short-limb... OMIM:259420
Spinal Cord Injury
Paralytic ileus, Vertebral compression fracture ORPHA:90058
Mosaic Trisomy 14
Narrow chest, Camptodactyly of finger, Low-set, posteriorly rotated ears, Cryptorchidism, Short n... ORPHA:1703
X-Linked Dominant Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Epiphyseal stippling, Kyphoscoliosis, Anterior rib punctate calci... ORPHA:35173
Multiple Synostoses Syndrome 1
Bilateral conductive hearing impairment, Conductive hearing impairment, Stapes ankylosis, Carpal ... OMIM:186500
Progressive Pseudorheumatoid Dysplasia
Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Sclerotic vertebral endpla... OMIM:208230
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly, Osteopenia, Flexion contracture, Short femoral neck, Moderately short stature ORPHA:157965
Hypophosphatasia, Infantile
Platyspondyly, Unossified vertebral bodies, Rachitic rosary, Disproportionate short-limb short st... OMIM:241500
Multiple Epiphyseal Dysplasia Type 4
Hypoplastic cervical vertebrae, Limitation of joint mobility, Premature osteoarthritis, Dislocati... ORPHA:93307
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thoracolumbar kyphosis, Thin ribs, Rhizomelia, Neonatal short-limb short stature, Narrow chest, S... OMIM:151210
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Thin ribs, Disproportionate short-limb short stature, Thoracic hypoplasia, Bell-sh... OMIM:166210
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Hemolytic anemia, Coombs-positive hemolytic anemia, Lymphadenopathy, Th... OMIM:614034
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormal rib cage morphology, Abnormality of carpal bone ossification, Osteopenia, Slender build,... OMIM:608154
Dyggve-Melchior-Clausen Disease
Hypoplasia of the odontoid process, Genu valgum, Short neck, Disproportionate short-trunk short s... ORPHA:239
Fibrochondrogenesis
Low-set ears, Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Camptoda... ORPHA:2021
Primary Ciliary Dyskinesia
Conductive hearing impairment, Hearing impairment, Polysplenia, Recurrent otitis media, Intestina... ORPHA:244
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Hepatitis, Joint stiffness, Epiphyseal stippling, S... ORPHA:584
Multiple Myeloma
Tall stature, Splenomegaly, Lymphadenopathy, Anemia, Vertebral compression fracture ORPHA:29073
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Hajdu-Cheney Syndrome
Micrognathia, Decreased skull ossification, Absent frontal sinuses, Short neck, Patellar dislocat... ORPHA:955
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Interphalangeal joint contracture of finger, Respiratory distress, Elb... ORPHA:1145
Craniofacioskeletal Syndrome
Small hand, Intrauterine growth retardation, Micrognathia, Absent gallbladder, Barrel-shaped ches... OMIM:300712
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Narrow chest, Micromelia, Dysplastic sacrum, Postnatal growth re... OMIM:613320
Larsen Syndrome
Hypoplastic cervical vertebrae, Elbow dislocation, Beaking of vertebral bodies, Short metacarpal,... OMIM:150250
Desbuquois Dysplasia 1
Short neck, Advanced ossification of carpal bones, Flat acetabular roof, Genu varum, Disproportio... OMIM:251450
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Lumbar hyperlordosis, Dyspnea, Scoliosis, Spinal rigidity ORPHA:86812
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at L5, Synostosis of carpal bones, Short thum... OMIM:102510
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Short stature, Abnormal rib morphology ORPHA:2435
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Hearing impairment, Vertebral segmentation defect, Short neck, Abnormal rib morphology, Short sta... ORPHA:2578
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Low-set ears, Abnormal reticulocyte morphology, Abnormal clavicle morphology, Short neck, Hyperlo... ORPHA:2522
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Narrow chest, Micromelia, Advanced tarsal ossification, Micrognath... OMIM:215045
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Platyspondyly, Abnormal intervertebral disk morphology, Osteoarthritis ORPHA:1345
Branchiootic Syndrome
Abnormality of the outer ear, Conductive hearing impairment, Atresia of the external auditory can... ORPHA:52429
Atelosteogenesis Type Iii
Thoracolumbar kyphosis, Absent humerus, Elbow dislocation, Short tibia, Knee dislocation, Ulnar d... ORPHA:56305
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Respiratory distress, Lumbar hyperlordosis, Neonatal death, Central apnea, Kyphosi... OMIM:616482
Monosomy 18P
Micrognathia, Kyphoscoliosis, Short neck, Short stature, Pectus excavatum, Enlarged thorax ORPHA:1598
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Elbow dislocation, Genu valgum, Micrognathia, Bell-shaped thorax,... ORPHA:56304
Cooper-Jabs Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Anteriorly placed anus, Um... ORPHA:1488
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Streak ovary, Radioulnar s... ORPHA:798
Calvarial Doughnut Lesions With Bone Fragility
Severe short stature, Osteopenia, Platyspondyly, Osteoporosis, Scoliosis, Recurrent fractures OMIM:126550
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Limitation of joint mobility, Camptodactyly of finger, Intrauterine growth retardation, Micrognat... ORPHA:2570
Femoral-Facial Syndrome
Low-set ears, Cryptorchidism, Vertebral segmentation defect, Rib fusion, Radioulnar synostosis, S... ORPHA:1988
Diaphanospondylodysostosis
Unossified sacrum, Respiratory distress, Micrognathia, Absent in utero ossification of vertebral ... OMIM:608022
Microphthalmia, Syndromic 3
Postnatal growth retardation, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, ... OMIM:206900
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Platyspondyly, Osteopenia, Joint contracture of the hand, Camptodactyly of finger, Moderately sho... OMIM:612350
Mucopolysaccharidosis Type 4
Platyspondyly, Pectus carinatum, Joint dislocation, Abnormal rib morphology, Spinal canal stenosi... ORPHA:582
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Annular pancreas, Retrognathia, Meckel diverticulum, Intest... OMIM:265380
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Platyspondyly, Osteosclerosis of ribs, Disproportionate short-limb... ORPHA:174
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Thin ribs, Rhizomelia, Intrauterine growth retardation, Micrognathia, Death in inf... ORPHA:163966
Thanatophoric Dysplasia, Type I
Platyspondyly, Small abnormally formed scapulae, Narrow chest, Disproportionate short-limb short ... OMIM:187600
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Polysplenia, Abdominal situs ... OMIM:306955
Craniodiaphyseal Dysplasia
Short stature, Stenosis of the external auditory canal, Conductive hearing impairment, Abnormal r... ORPHA:1513
Combined Oxidative Phosphorylation Deficiency 47
Platyspondyly, Low-set ears, Intrauterine growth retardation, Cryptorchidism, Sensorineural heari... OMIM:618958
Diamond-Blackfan Anemia 1
Delayed cranial suture closure, Persistence of hemoglobin F, Micrognathia, Short neck, Neutropeni... OMIM:105650
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Micrognathia, Bell-shaped thorax, Short neck, Anterior rib cu... OMIM:271665
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Absence of the sacrum, Shor... ORPHA:79106
Hurler-Scheie Syndrome
Abnormal vertebral morphology, Limitation of joint mobility, Splenomegaly, Hepatomegaly, Abnormal... ORPHA:93476
Mullegama-Klein-Martinez Syndrome
Low-set ears, Bifid uvula, Submucous cleft of soft and hard palate, Atresia of the external audit... OMIM:301022
Noonan Syndrome 7
Pectus carinatum, Growth delay, Joint hypermobility, Cubitus valgus, Short neck, Short stature, P... OMIM:613706
Thanatophoric Dysplasia
Platyspondyly, Narrow chest, Disproportionate short-limb short stature, Micromelia, Intrauterine ... ORPHA:2655
Spondylo-Ocular Syndrome
Platyspondyly, Joint hypermobility, Short neck, Disproportionate short-trunk short stature, Short... ORPHA:85194
Thanatophoric Dysplasia Type 1
Platyspondyly, Narrow chest, Micromelia, Lethal short-limbed short stature, Joint stiffness, Abno... ORPHA:1860
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Scoliosis ORPHA:254875
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Stickler Syndrome, Type I
Platyspondyly, Joint stiffness, Micrognathia, Spondylolisthesis, Morbus Scheuermann, Arthropathy,... OMIM:108300
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly, Rhizomelia, Short humerus, Short metatarsal, Short metacarpal OMIM:601438
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Platyspondyly, Delayed epiphyseal ossification, Disproportionate short-limb short stature, Short ... OMIM:611717
Garg-Mishra Progeroid Syndrome
Platyspondyly, Thin ribs, Narrow chest, Persistent open anterior fontanelle, Postnatal growth ret... OMIM:620601
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cholelithiasis, Tympanosclerosis, Chronic active hepatitis, Hypoparathyroidis... OMIM:240300
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... OMIM:184400
Atelosteogenesis Type I
Platyspondyly, Rhizomelia, Narrow chest, Joint dislocation, Abnormal pancreatic duct morphology, ... ORPHA:1190
Fibrochondrogenesis 2
Platyspondyly, Thoracic hypoplasia, Micrognathia, Bell-shaped thorax, Short ribs, Cupped ribs OMIM:614524
Stickler Syndrome, Type Iv
Platyspondyly, Short femoral neck, Genu valgum, Intervertebral space narrowing, Joint hypermobili... OMIM:614134
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Anal stenosis, Myelomeningocele, Abnormal odontoid process morphology, Bell-shap... OMIM:613686
Stormorken Syndrome
Howell-Jolly bodies, Anemia, Thrombocytopenia, Short stature, Asplenia, Hypoplastic spleen OMIM:185070
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Platyspondyly, Thoracolumbar kyphosis, Disproportionate short stature, Lymphopenia, Hepatic cysts... OMIM:617425
Phaver Syndrome
Low-set ears, Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Abnormal form of... ORPHA:2876
Otospondylomegaepiphyseal Dysplasia
Abnormal vertebral morphology, Platyspondyly, Bifid uvula, Abnormal joint morphology, Enlarged jo... ORPHA:1427
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Stillbirt... OMIM:615415
Mucopolysaccharidosis, Type Vii
Hypoplasia of the odontoid process, Limitation of joint mobility, Postnatal growth retardation, G... OMIM:253220
Schwartz-Jampel Syndrome, Type 1
Platyspondyly, Congenital hip dislocation, Joint contracture of the hand, Cervical kyphosis, Shou... OMIM:255800
Axial Mesodermal Dysplasia Spectrum
Abnormal form of the vertebral bodies, Abnormality of the spleen, Abnormality of the liver, Abnor... ORPHA:1834
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of the earlobes, Pectus carinatum, Conductive hearing impairment, Cryptorchidi... ORPHA:3082
Spondylocostal Dysostosis 5
Severe short stature, Pectus carinatum, Butterfly vertebrae, Missing ribs, Low back pain, Short n... OMIM:122600
ERI1-related disease
Platyspondyly, Osteopenia, Pectus carinatum, Narrow chest, Intrauterine growth retardation, Incre... OMIM:608739
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Decreased testicular... ORPHA:2234
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Micrognathia, Patellar dislocation, Finger joint hypermobility, Dislocated radial head, Short foo... OMIM:620663
Thanatophoric Dysplasia Type 2
Platyspondyly, Narrow chest, Limitation of joint mobility, Micromelia, Joint hypermobility, Short... ORPHA:93274
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Underdeveloped tragus, Ove... ORPHA:50815
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Hypoplasia of the odontoid process, Ulnar deviation of the wrist, Joint stiffness,... OMIM:253010
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Short distal phalanx of finger, Hypoplastic scapulae, Narrow chest, Disproportiona... ORPHA:85166
Lethal Congenital Contracture Syndrome Type 1
Abnormal form of the vertebral bodies, Low-set, posteriorly rotated ears, Short neck, Abnormal ri... ORPHA:1486
Radio-Renal Syndrome
High, narrow palate, Abnormal form of the vertebral bodies, Retrognathia, Respiratory distress, M... ORPHA:3015
Klippel-Feil Syndrome 1, Autosomal Dominant
Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment, Cervical C2/... OMIM:118100
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Platyspondyly, Thin ribs, Hypoplasia of the odontoid process, Short finger, Kyphoscoliosis, Wormi... OMIM:300232
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Limited elbow extension, Genu varum, Osteoarthr... OMIM:602111
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Osteopenia, Thoracic hypoplasia, Intrauterine growth retardation, Micrognathia, Sh... OMIM:616897
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Genu valgum, Thoracolumbar scoliosis, Ovoid vertebral bodies, Disproportionate short-limb short s... OMIM:618019
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Accessory spleen, Natal tooth, Occipital encephalocele,... OMIM:249000
Acrocraniofacial Dysostosis
Abnormality of the middle ear ossicles, Conductive hearing impairment, Abnormal form of the verte... ORPHA:949
Desbuquois Dysplasia 2
Severe short stature, Platyspondyly, Pectus carinatum, Narrow chest, Knee dislocation, Postnatal ... OMIM:615777
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Anal atresia, Abnormal sacrum morphology, Scoliosis, Fused cervical verte... ORPHA:1436
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Respiratory distress, Temporomandi... OMIM:614669
Hoxha-Aliu Syndrome
Abnormal vertebral morphology, Absent fifth metatarsal, Patellar dislocation, Short distal phalan... OMIM:620662
Mucopolysaccharidosis, Type X
Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib... OMIM:619698
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Anteriorly placed anus, Ethmoidal encephalocele, Abnormal rib morp... ORPHA:280195
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Broad ribs, Splenomegaly, Joint swelling, Flaring of rib cage, Neutrophilia... OMIM:612852
Campomelic Dysplasia
Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Hypoplastic cervical vertebrae,... OMIM:114290
Mesomelic Dysplasia, Kantaputra Type
Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of finger, Vertebral segmenta... ORPHA:1836
Endocrine-Cerebroosteodysplasia
Narrow chest, Micrognathia, Micromelia, Barrel-shaped chest OMIM:612651
Mucopolysaccharidosis Type 1
Joint dislocation, Abnormal form of the vertebral bodies, Spinal canal stenosis, Joint stiffness,... ORPHA:579
Alkaptonuria
Limited hip movement, Intervertebral disk degeneration, Arthropathy, Low back pain, Limited shoul... OMIM:203500
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Low-set ears, Abnormal form of the vertebral bodies, Sprengel anomaly, Hemivertebrae, Abnormal ri... ORPHA:2180
Ciliary Dyskinesia, Primary, 1
Asplenia, Conductive hearing impairment, Chronic otitis media OMIM:244400
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Umbilical hernia OMIM:254120
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Abnormality of the vertebral column, Irregular acetabular roof, Abnormality of the... ORPHA:93316
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Episodic Ataxia Type 1
Respiratory distress, Scoliosis, Kyphoscoliosis ORPHA:37612
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Platyspondyly, Premature osteoarthritis, Lumbar hyperlordosis, Micrognathia, Short 5th metacarpal... OMIM:215150
Mucopolysaccharidosis Type 6
Hearing impairment, Broad ribs, Genu valgum, Splenomegaly, Short neck, Disproportionate short-tru... ORPHA:583
Christian Syndrome
Thoracic hemivertebrae, Prominent metopic ridge, Anal atresia, Scoliosis, Fused cervical vertebrae OMIM:309620
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Juberg-Hayward Syndrome
Severe short stature, Abnormal vertebral morphology, Anteriorly placed anus, Intrauterine growth ... ORPHA:2319
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Kyphoscoliosis OMIM:612913
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Abnormality of the middle ear ossicles, Atresia of the external auditor... OMIM:609166
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Dental malocclusion, Respiratory distress, Micrognathia, Hepatomegaly, High palate, Scoliosis ORPHA:329178
White Forelock With Malformations
Low-set, posteriorly rotated ears, Spina bifida occulta, Sprengel anomaly, Abnormal rib morphology ORPHA:2475
Distal Duplication 6P
Intrauterine growth retardation, Micrognathia, Long thorax, Short neck, Short stature, Sacral dimple ORPHA:1745
Lateral Meningocele Syndrome
Low-set ears, High, narrow palate, Conductive hearing impairment, Abnormal form of the vertebral ... ORPHA:2789
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Platyspondyly, Osteopenia, Carpal synostosis, Increased susceptibility to fractures, Kyphoscolios... OMIM:615349
Leopard Syndrome 3
Cubitus valgus, Short neck, Short stature, Shield chest, Growth delay OMIM:613707
Congenital Disorder Of Glycosylation, Type Iig
Low-set ears, Shallow acetabular fossae, Giant platelets, Postnatal growth retardation, Cryptorch... OMIM:611209
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Camptodactyly of finger, Slender build, Intrauterine growth retardation, Cervical ver... ORPHA:3455
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment, Abnormality of the vertebral column, Sprengel anomaly, Abnormal ri... OMIM:601076
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Respiratory distress, Exocrine pancreatic insufficiency, Pancytopeni... OMIM:260400
Noonan Syndrome 13
Enlarged thorax, Micrognathia, Limited elbow extension, Joint hypermobility, Cubitus valgus, Shor... OMIM:619087
Cantu Syndrome
Platyspondyly, Narrow chest, Cuboid-shaped vertebral bodies, Short neck, Short hallux, Osteoporos... OMIM:239850
Achondroplasia
Respiratory distress, Lumbar hyperlordosis, Limited elbow extension, Death in infancy, Short ribs... OMIM:100800
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Respiratory distress, Nocturnal hypoventilation, Death in childhood, Ankle clonus... OMIM:211530
Acromesomelic Dysplasia 4
Platyspondyly, Rhizomelia, Disproportionate short stature, Short toe, Short finger, Thoracic plat... OMIM:619636
Bent Bone Dysplasia Syndrome 2
Platyspondyly, Osteopenia, Thin ribs, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, ... OMIM:620076
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Horizontal ribs, Death in infancy, Short ribs, Short stature, Tri... OMIM:617405
Craniometadiaphyseal Dysplasia
Low-set ears, Broad ribs, Genu valgum, Wormian bones, Cubitus valgus, Short stature, High palate,... OMIM:269300
Mosaic Trisomy 8
Narrow chest, Hearing impairment, Camptodactyly of finger, Tall stature, Decreased testicular siz... ORPHA:96061
Achondrogenesis Type 1B
Severe short stature, Narrow chest, Disproportionate short stature, Short thorax, Umbilical herni... ORPHA:93298
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal mesentery morphology, Abnormality of the spleen, ... ORPHA:93941
Becker Nevus Syndrome
Pectus carinatum, Supernumerary nipple, Rib fusion, Supernumerary ribs, Pectus excavatum, Spina b... ORPHA:64755
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Genu valgum, Carpal bone hypoplasia, Short neck, Disproportionate short-trunk short stature, Thor... ORPHA:457395
Feingold Syndrome 1
Accessory spleen, Low-set ears, Annular pancreas, Hearing impairment, Polysplenia, Jejunal atresi... OMIM:164280
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Platyspondyly, Osteopenia, Short fourth metatarsal, Short femoral neck, Limited elbow extension, ... OMIM:616723
Lethal Congenital Contracture Syndrome 1
Micrognathia, Abnormal thorax morphology, Neonatal death, Widening of cervical spinal canal, Arth... OMIM:253310
Lowry-Wood Syndrome
Platyspondyly, Elbow dislocation, Joint stiffness, Patellar dislocation, Short stature, Dislocate... ORPHA:1824
Tetrasomy 5P
Respiratory distress, Micrognathia, Short neck, High palate, Wide anterior fontanel ORPHA:3309
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Protruding ear, Tracheoesophageal fistula, Hyperlordosis, Abnormal rib morpholo... ORPHA:3068
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Pectus carinatum, Hip dislocation, Genu valgum, Butterfly vertebrae, Delayed pubic bone ossificat... OMIM:613330
Cleidocranial Dysplasia
High, narrow palate, Hypoplastic scapulae, Narrow chest, Hearing impairment, Genu valgum, Hearing... ORPHA:1452
Osteogenesis Imperfecta, Type I
Osteopenia, Otosclerosis, Biconcave flattened vertebrae, Increased susceptibility to fractures, J... OMIM:166200
Mucopolysaccharidosis, Type Iiia
Hearing impairment, Umbilical hernia, Splenomegaly, Thickened ribs, Ovoid thoracolumbar vertebrae... OMIM:252900
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Low-set ears, Intestinal malrotation, Short stature, Asplenia, High palate, Posteriorly rotated ears OMIM:619657
Meckel Syndrome
Accessory spleen, Aplasia/Hypoplasia of the tongue, Low-set, posteriorly rotated ears, Furrowed t... ORPHA:564
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Platyspondyly, Mesomelia, Rhizomelia, Osteopenia, Disproportionate short-limb short stature, Lumb... OMIM:271510
Czech Dysplasia
Platyspondyly, Limitation of joint mobility, Short toe, Short femoral neck, Flexion contracture, ... OMIM:609162
Alagille Syndrome
Abnormal form of the vertebral bodies, Cholestasis, Intrauterine growth retardation, Cryptorchidi... ORPHA:52
Hall-Riggs Syndrome
Platyspondyly, Scoliosis, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2107
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Short tibia, Micrognathia, Absent gallbladder, Horizontal ribs, Long thorax, Fibula... OMIM:617925
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Anisospondyly, Disproportionate short-limb short stature, Occipital encepha... OMIM:224410
Cushing Disease
Decreased eosinophil count, Lymphopenia, Leukocytosis, Adrenal hyperplasia, Pituitary corticotrop... ORPHA:96253
Familial Calcium Pyrophosphate Deposition
Chondrocalcinosis, Joint dislocation, Calcification of cartilage, Joint swelling, Arthritis, Oste... ORPHA:1416
Three M Syndrome 2
Severe short stature, Thin ribs, Pectus carinatum, Intrauterine growth retardation, Lumbar hyperl... OMIM:612921
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Abnormal sternum morphology, Tall stature, Osteochondritis dissecans, Interve... OMIM:619656
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal mesentery morphology, Low-set, posteriorly rotated ear... ORPHA:2167
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Scoliosis ORPHA:544503
Trisomy 13
Low-set ears, High, narrow palate, Abnormal helix morphology, Narrow chest, Intrauterine growth r... ORPHA:3378
Bresek Syndrome
Low-set ears, Growth delay, Hearing impairment, Decreased testicular size, Intrauterine growth re... ORPHA:85284
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow palate, Conductive hearing impairme... OMIM:614188
Hurler Syndrome
Abnormal vertebral morphology, Abnormal clavicle morphology, Hearing impairment, Spinal canal ste... ORPHA:93473
Cartilage-Hair Hypoplasia
Asymmetry of the thorax, Neonatal short-limb short stature, Hypoplasia of the odontoid process, A... OMIM:250250
Xq21 Microdeletion Syndrome
Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis, Sensorineural... ORPHA:1435
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Delayed cranial suture closure, Respiratory distress, Hepatomegaly, High palate, Scoliosis OMIM:619383
Thoracolaryngopelvic Dysplasia
Slender build, Bell-shaped thorax, Horizontal ribs, Short ribs, Irregular chondrocostal junctions... OMIM:187760
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Anteriorly placed anus, Respiratory distress, Micrognathia, Short neck, Wide anterior fontanel, C... OMIM:217980
Melnick-Needles Syndrome
Anisospondyly, Narrow chest, Hearing impairment, Short thorax, Delayed cranial suture closure, Sh... ORPHA:2484
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Joint contracture of the hand, Respiratory distress, Knee contracture, Death in childhood, Death ... OMIM:620278
Craniodiaphyseal Dysplasia, Autosomal Dominant
Short stature, Death in adolescence, Thickened ribs, Hearing impairment OMIM:122860
2P15P16.1 Microdeletion Syndrome
Growth delay, Enlarged thorax, Camptodactyly of finger, Tall stature, Intrauterine growth retarda... ORPHA:261349
Smith-Magenis Syndrome
Abnormality of the outer ear, Hearing impairment, Velopharyngeal insufficiency, Abnormal middle e... OMIM:182290
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ... ORPHA:3236
Triosephosphate Isomerase Deficiency
Normocytic anemia, Cholelithiasis, Respiratory distress, Cholecystitis, Macrocytic anemia, Spleno... OMIM:615512
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal helix morphology, Death in infancy, Vertebral segmentation defect, Spina bifida, Abnorma... ORPHA:1120
Moebius Syndrome
Bifid uvula, Respiratory distress, Micrognathia, Short neck, High palate OMIM:157900
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Platyspondyly, Pectus carinatum, Craniofacial osteosclerosis, Increased... OMIM:618476
Bor Syndrome
Atresia of the external auditory canal, Hearing impairment, Stenosis of the external auditory can... ORPHA:107
Schimke Immunoosseous Dysplasia
Platyspondyly, Osteopenia, Shallow acetabular fossae, Lymphopenia, Intrauterine growth retardatio... OMIM:242900
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Asymmetry of spinal facet joints, Absence of the sacrum, Sacral dimple OMIM:182940
Renpenning Syndrome
Severe short stature, High, narrow palate, Decreased testicular size, Sensorineural hearing impai... ORPHA:3242
Microphthalmia, Lenz Type
Abnormal clavicle morphology, Camptodactyly of finger, Abnormal shoulder morphology, Long thorax,... ORPHA:568
Pyknoachondrogenesis
Abnormal intramembranous ossification, Craniofacial hyperostosis, Unossified sacrum, Micromelia, ... ORPHA:3003
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Genu valgum, Micrognathia, Radioulnar synostosis, Short neck, Dislocated radial head, Hip disloca... OMIM:245600
Lateral Meningocele Syndrome
Low-set ears, Abnormality of the middle ear ossicles, Conductive hearing impairment, Umbilical he... OMIM:130720
Campomelia, Cumming Type
Abnormal thorax morphology, Death in infancy, Abnormality of the pancreas, Abnormal intestine mor... ORPHA:1318
Autosomal Recessive Multiple Pterygium Syndrome
Low-set ears, Hearing impairment, Cryptorchidism, High palate, Popliteal pterygium, Hearing abnor... ORPHA:2990
Prune Belly Syndrome
Congenital hip dislocation, Volvulus, Intestinal malrotation, Decreased testicular size, Cryptorc... ORPHA:2970
Cat-Eye Syndrome
Hearing impairment, Intrauterine growth retardation, Abnormal rib morphology, Short stature, Anal... ORPHA:195
Immunodeficiency 95
Respiratory distress, Lymphopenia OMIM:619773
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly, Atlantoaxial dislocation, Dentinogenesis imperfecta, Carious teeth, Congenital kyp... ORPHA:536467
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Splenomegaly, Abnormal pattern of respiration ORPHA:77260
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Micrognathia OMIM:300580
Femoral-Facial Syndrome
Micrognathia, Humeroradial synostosis, Limited elbow movement, Radioulnar synostosis, Sprengel an... OMIM:134780
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Vertebral wedging, Intestinal malrotation, Micrognathia, Short ribs, Missing ribs OMIM:617866
10Q22.3Q23.3 Microduplication Syndrome
Low-set ears, Abnormal clavicle morphology, Chronic otitis media, Abnormal rib morphology ORPHA:276422
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Limited wrist extension, Exertional dyspnea, Abnormality o... ORPHA:98915
Cerebrofaciothoracic Dysplasia
Narrow chest, Low-set, posteriorly rotated ears, Vertebral segmentation defect, Rib fusion, Short... ORPHA:1394
Primary Dystonia, Dyt4 Type
Respiratory distress, Kyphoscoliosis ORPHA:98805
Vacterl/Vater Association
Occipital encephalocele, Low-set, posteriorly rotated ears, Abnormality of the gallbladder, Intra... ORPHA:887
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:254210
Feingold Syndrome
Annular pancreas, Abnormal form of the vertebral bodies, Duodenal atresia, Abnormality of the spl... ORPHA:1305
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostosis, Scoliosis, Cleft ... OMIM:618469
Shprintzen-Goldberg Craniosynostosis Syndrome
Thin ribs, Low-set ears, Joint contracture of the hand, Genu valgum, Cryptorchidism, High palate,... OMIM:182212
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Mucopolysaccharidosis, Type Iiic
Hearing impairment, Splenomegaly, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Beaking of verte... OMIM:252930
Cartilage-Hair Hypoplasia
Short neck, Neutropenia, Hepatomegaly, Macrotia, Pectus carinatum, Disproportionate short-limb sh... ORPHA:175
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Low-set ears, Joint dislocation, Intrauterine growth retardation, Multiple pterygia, V... OMIM:312150
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
Kyphomelic Dysplasia
Platyspondyly, Disproportionate short stature, Limitation of joint mobility, Micromelia, Thoracic... OMIM:211350
Spondylometaphyseal Dysplasia, Algerian Type
Severe short stature, Platyspondyly, Hypoplasia of proximal radius, Lumbar hyperlordosis, Genu va... OMIM:184253
Congenital Myopathy 22B, Severe Fetal
Thin ribs, Retrognathia, Respiratory distress, Elbow flexion contracture, Micrognathia, Hip contr... OMIM:620369
Heterotaxy, Visceral, 5, Autosomal
Absence of the sacrum, Abdominal situs inversus, Intestinal malrotation, Abdominal situs ambiguus... OMIM:270100
Mucopolysaccharidosis, Type Iiib
Hearing impairment, Splenomegaly, Ovoid thoracolumbar vertebrae, Hepatomegaly, Thickened ribs OMIM:252920
Cantú Syndrome
Platyspondyly, Short distal phalanx of finger, Narrow chest, Broad ribs, Cuboid-shaped vertebral ... ORPHA:1517
White-Sutton Syndrome
Hypoplastic cervical vertebrae, Intrauterine growth retardation, Micrognathia, Joint hypermobilit... OMIM:616364
Mogs-Cdg
Retrognathia, Respiratory distress, Hepatosplenomegaly, Apnea, Hypoventilation, Thoracic scoliosi... ORPHA:79330
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Pancreatic adenocarcinoma, Lymphopenia, Pheochromocytoma, Decreas... ORPHA:99889
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Congenital hip dislocation, Osteopenia, Hypoplasia of the odonto... OMIM:616007
Poland Syndrome
Rib fusion, Sprengel anomaly, Hemivertebrae, Short ribs OMIM:173800
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Aarskog-Scott Syndrome
Short 5th finger, Cervical spine hypermobility, Hypoplasia of the odontoid process, Increased upp... OMIM:305400
Müllerian Aplasia And Hyperandrogenism