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Gene: Nkx3-2 MGI:108015

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

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 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.

Human diseases associated with Nkx3-2 (1 diseases)
Human diseases predicted to be associated with Nkx3-2 (973 diseases)

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	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	Short stature, Cubitus valgus, Short neck, Shield chest	ORPHA:247768
Schimke Immuno-Osseous Dysplasia	Platyspondyly, Bone marrow hypocellularity, Shallow acetabular fossae, Abnormal proportion of nai...	ORPHA:1830
Noonan Syndrome	Osteopenia, Pectus carinatum, Juvenile myelomonocytic leukemia, Postnatal growth retardation, Del...	ORPHA:648
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic...	OMIM:269200
Mucopolysaccharidosis-Plus Syndrome	Bone marrow hypocellularity, Respiratory distress, Leukopenia, Splenomegaly, Acetabular dysplasia...	OMIM:617303
Aneurysm-Osteoarthritis Syndrome	Pectus carinatum, Camptodactyly of finger, Protrusio acetabuli, Osteochondritis dissecans, Spondy...	ORPHA:284984
Congenital Disorder Of Glycosylation, Type Ie	High, narrow palate, Ankle flexion contracture, Respiratory distress, Micrognathia, Splenomegaly,...	OMIM:608799
Multiple Pterygium Syndrome, Escobar Variant	Low-set ears, Intercrural pterygium, Exostosis of the external auditory canal, Dysplastic patella...	OMIM:265000
Cenani-Lenz Syndrome	Synostosis of joints, High, narrow palate, Synostosis of carpal bones, Abnormal form of the verte...	ORPHA:3258
Craniosynostosis, Herrmann-Opitz Type	Intrauterine growth retardation, Abnormal antihelix morphology, Abnormal rib morphology, Short st...	ORPHA:2145
Meier-Gorlin Syndrome 1	Thin ribs, Genu recurvatum, Hypoplasia of the maxilla, Joint contracture of the hand, Elbow dislo...	OMIM:224690
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Platyspondyly, Rhizomelia, Increased hepatic echogenicity, Short finger, Postnatal growth retarda...	OMIM:608940
Perlman Syndrome	Low-set ears, High, narrow palate, Abnormal pancreas morphology, Tall stature, Cryptorchidism, He...	ORPHA:2849
Blomstrand Lethal Chondrodysplasia	Platyspondyly, Synostosis of joints, Rhizomelia, Neonatal short-limb short stature, Aplastic clav...	ORPHA:50945
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal vertebral morphology, Low-set ears, Elevated circulating luteinizing hormone level, Hypo...	ORPHA:95699
Acro-Renal-Mandibular Syndrome	Thin ribs, Pectus carinatum, Hip dislocation, Hypoplastic scapulae, Abnormal clavicle morphology,...	ORPHA:958
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatic steatosis	ORPHA:26792
Phosphoribosylaminoimidazole Carboxylase Deficiency	Lumbar hemivertebrae, Low-set ears, Bilateral cryptorchidism, Neonatal death, Missing ribs, Short...	OMIM:619859
Jeune Syndrome	Narrow chest, Abnormal clavicle morphology, Abnormal rib morphology, Abnormal sternum morphology,...	ORPHA:474
Lethal Recessive Chondrodysplasia	Respiratory distress, Macroglossia, Micrognathia, Flared elbow metaphyses	ORPHA:1423
Grant Syndrome	Abnormality of the glenoid fossa, Narrow chest, Joint dislocation, Wormian bones, Sprengel anomal...	ORPHA:2097
Bcard Syndrome	Platyspondyly, Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, E...	OMIM:612394
Multiple Pterygium Syndrome, Lethal Type	Thin ribs, Low-set ears, Joint dislocation, Intrauterine growth retardation, Multiple pterygia, V...	OMIM:253290
Oculoauriculovertebral Spectrum With Radial Defects	Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of the external au...	ORPHA:2549
Congenital Myasthenic Syndrome	Congenital hip dislocation, Microretrognathia, Neuropathic spinal arthropathy, Narrow jaw, Episod...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Congenital hip dislocation, Microretrognathia, Neuropathic spinal arthropathy, Narrow jaw, Episod...	ORPHA:98914
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Carpal synostosis, Genu valgum, Micrognathia, Short neck, Radial head subluxation, Advanced ossif...	OMIM:271640
Restrictive Dermopathy 1	Intrauterine growth retardation, Micrognathia, Increased anterioposterior diameter of thorax, Kyp...	OMIM:275210
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Congenital hip dislocation, Hypoplastic coccygeal vertebrae, Micrognathia, Dislocated radial head...	OMIM:619512
Mucopolysaccharidosis Type 2, Severe Form	Abnormal vertebral morphology, Otosclerosis, Conductive hearing impairment, Spinal canal stenosis...	ORPHA:217085
Trisomy 20P	Platyspondyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Umbilical hernia, ...	ORPHA:261318
Achondrogenesis Type 1A	Severe short stature, Narrow chest, Umbilical hernia, Multiple rib fractures, Short neck, Short t...	ORPHA:93299
Cole-Carpenter Syndrome	Abnormal form of the vertebral bodies, Intrauterine growth retardation, Wormian bones, Abnormal r...	ORPHA:2050
Gm1 Gangliosidosis	Platyspondyly, Mandibular prognathia, Abnormal form of the vertebral bodies, Camptodactyly of fin...	ORPHA:354
Digeorge Syndrome	Low-set ears, Recurrent otitis media, Hepatic steatosis, Ovarian cyst, Intervertebral disk degene...	OMIM:188400
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Butterfly vertebrae, Short ribs	OMIM:607143
Cleidocranial Dysplasia 1	High, narrow palate, Narrow palate, Spondylolysis, Hip dislocation, Persistent open anterior font...	OMIM:119600
Cardiofaciocutaneous Syndrome 1	Osteopenia, Pectus carinatum, Micrognathia, Splenomegaly, Cubitus valgus, Short neck, Short statu...	OMIM:115150
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intestinal malrotation, Intrauterine growth retardation, Splenomegaly, Abnormal rib morphology, A...	ORPHA:3035
Short Stature, Brussels Type	Short stature, Calcification of cartilage, Narrow chest, Growth delay	ORPHA:2867
Otopalatodigital Syndrome, Type Ii	Rudimentary fibula, Postnatal growth retardation, Micrognathia, Short neck, Short hallux, Short m...	OMIM:304120
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Flat glenoid fossa, Disproportionate short-limb short stature, Conductive hearing impairment, Rec...	OMIM:250420
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal vertebral morphology, Otosclerosis, Conductive hearing impairment, Spinal canal stenosis...	ORPHA:217093
Right Atrial Isomerism	Asplenia, Abdominal situs ambiguus, Polysplenia	OMIM:208530
Treacher Collins Syndrome 2	Anotia, Microtia, Conductive hearing impairment, Fusion of middle ear ossicles	OMIM:613717
Vacterl Association With Hydrocephalus	Abnormal vertebral morphology, Absent thumb, Abnormality of the vertebral column, Radial club han...	OMIM:276950
Malaria	Respiratory distress, Anemia, Thrombocytopenia	ORPHA:673
Occipital Horn Syndrome	Platyspondyly, Pectus carinatum, Broad clavicles, Narrow chest, Persistent open anterior fontanel...	OMIM:304150
Spondyloenchondrodysplasia	Platyspondyly, Short distal phalanx of finger, Pectus carinatum, Hepatitis, Pancytopenia, Autoimm...	ORPHA:1855
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Disproportionate short-limb short stature, Low-set, posteriorly rotated ears, Intrauterine growth...	ORPHA:2772
Schwartz-Jampel Syndrome	Elbow dislocation, Genu valgum, Micrognathia, Hip contracture, Short neck, Sprengel anomaly, Prot...	ORPHA:800
Vertebral Hypersegmentation And Orofacial Anomalies	Supernumerary nipple, Submucous cleft hard palate, Supernumerary ribs, Unilateral cleft palate, S...	OMIM:619122
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Broad ribs, Wormian bones, High palate, Vertebral arch anomaly, Wide anterior fontanel	ORPHA:85184
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Pectus carinatum, Hypoplasia of the odontoid process, Hypoplastic acetabulae...	OMIM:253200
Hurler Syndrome	Hypoplasia of the odontoid process, Cranial hyperostosis, Joint stiffness, Hepatosplenomegaly, Sp...	OMIM:607014
8P23.1 Microdeletion Syndrome	Intrauterine growth retardation, Micrognathia, Short neck, Short stature, Growth delay, Enlarged ...	ORPHA:251071
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Larsen-Like Syndrome, Lethal Type	Abnormal cartilage matrix, Multiple joint dislocation, Joint dislocation, Neonatal death	OMIM:245650
Mirage Syndrome	Radial club hand, Lymphopenia, Intrauterine growth retardation, Leukopenia, Anemia, Hypoplastic s...	OMIM:617053
Tetraamelia Syndrome 1	Low-set ears, Abnormal clavicle morphology, Abnormal scapula morphology, Adrenal gland agenesis, ...	OMIM:273395
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Abnormality of the liver, Hepatomegaly, Macroglossia, High palate	ORPHA:254864
17Q24.2 Microdeletion Syndrome	Otosclerosis, Abnormality of the ankle, Recurrent otitis media, Abnormality of the wrist, Progres...	ORPHA:529962
Multiple Pterygium-Malignant Hyperthermia Syndrome	Severe short stature, Conductive hearing impairment, Camptodactyly of finger, Cryptorchidism, Pos...	ORPHA:2215
Turnpenny-Fry Syndrome	Pectus carinatum, Small hand, Narrow chest, Intrauterine growth retardation, Lumbar hyperlordosis...	OMIM:618371
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Microretrognathia, Hypoplastic spleen	ORPHA:89844
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hypoplasia of the odontoid process, Decreased proportion of CD8-positive T cells, Lymphopenia, Mi...	ORPHA:508533
Occipital Horn Syndrome	Synostosis of joints, Delayed cranial suture closure, Osteomalacia, Cholestasis, Genu valgum, Jau...	ORPHA:198
Poland Syndrome	Asymmetry of the thorax, Abnormality of the outer ear, Acute leukemia, Pectus carinatum, Abnormal...	ORPHA:2911
Trisomy 8Q	Camptodactyly of finger, Joint stiffness, Micrognathia, Long thorax, Short neck, Bone cyst	ORPHA:1752
Geleophysic Dysplasia 1	Platyspondyly, Osteopenia, Joint contracture of the hand, Short metacarpals with rounded proximal...	OMIM:231050
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Short neck, 11 pairs of ribs	ORPHA:50810
Cerebrocostomandibular Syndrome	Posterior rib gap, Hydranencephaly, Conductive hearing impairment, Atresia of the external audito...	ORPHA:1393
Osteoglophonic Dysplasia	Platyspondyly, Hypoplasia of the maxilla, Eruption failure, Delayed eruption of teeth, Camptodact...	OMIM:166250
Generalized Arterial Calcification Of Infancy	Conductive hearing impairment, Hearing impairment, Stapes ankylosis, Abnormal hip joint morpholog...	ORPHA:51608
Pleural Mesothelioma	Respiratory distress, Hepatomegaly, Dyspnea, Lymphadenopathy	ORPHA:50251
Mucolipidosis Ii Alpha/Beta	Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of...	OMIM:252500
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Narrow chest, Disproportionate short stature, Abnormal scapula morphology, Rhizome...	ORPHA:93317
Myotubular Myopathy With Abnormal Genital Development	Thin ribs, Retrognathia, Respiratory distress, Death in infancy, Neonatal death, High palate	OMIM:300219
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Pectus carinatum, Bifid uvula, Submucous cleft of soft and hard palate, Recurrent otitis media, G...	ORPHA:261537
Short-Rib Thoracic Dysplasia 12	Low-set ears, Hypoplastic scapulae, Neonatal death, Short neck, Hepatomegaly, Abnormal pinna morp...	OMIM:269860
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Hepatomegaly	OMIM:614741
Mowat-Wilson Syndrome	Recurrent otitis media, Genu valgum, Cryptorchidism, Sensorineural hearing impairment, Uplifted e...	ORPHA:2152
Frontometaphyseal Dysplasia 1	Hearing impairment, Partial fusion of carpals, Carpal synostosis, Genu valgum, Sensorineural hear...	OMIM:305620
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal vertebral morphology, Subluxation of the small joints of the hand, Micrognathia, Radioul...	ORPHA:536471
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatic periportal necrosis, Respiratory distress, Hepatic steatosis, Neonatal death, Hepatomegal...	OMIM:231680
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Sideroblastic anemia, Hepatomegaly	OMIM:613561
Holt-Oram Syndrome	Abnormal clavicle morphology, Down-sloping shoulders, Radioulnar synostosis, Sprengel anomaly, Ab...	ORPHA:392
Heterotaxy, Visceral, 2, Autosomal	Intestinal malrotation, Asplenia, Abdominal situs inversus, Polysplenia	OMIM:605376
Turner Syndrome Due To Structural X Chromosome Anomalies	Postnatal growth retardation, Genu valgum, Micrognathia, Hepatic steatosis, Short neck, Cirrhosis...	ORPHA:99413
Mosaic Monosomy X	Postnatal growth retardation, Genu valgum, Micrognathia, Hepatic steatosis, Short neck, Cirrhosis...	ORPHA:99228
Monosomy X	Postnatal growth retardation, Genu valgum, Micrognathia, Hepatic steatosis, Short neck, Cirrhosis...	ORPHA:99226
Turner Syndrome	Postnatal growth retardation, Genu valgum, Micrognathia, Hepatic steatosis, Short neck, Cirrhosis...	ORPHA:881
Proximal 16P11.2 Microdeletion Syndrome	Abnormal vertebral morphology, Conductive hearing impairment, Sensorineural hearing impairment, R...	ORPHA:261197
Atypical Werner Syndrome	Chondrocalcinosis, Limitation of joint mobility, Sclerosis of hand bone, Progressive clavicular a...	ORPHA:79474
Alpha-Mannosidosis, Infantile Form	Platyspondyly, Osteopenia, Pectus carinatum, Cranial hyperostosis, Talipes valgus, Joint stiffnes...	ORPHA:309282
Succinic Acidemia	Respiratory distress	OMIM:600335
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Thin ribs, Coronal craniosynostosis, Cholelithiasis, Severe B lymphocytopenia, Pyloric stenosis, ...	ORPHA:83617
Craniofaciofrontodigital Syndrome	Respiratory distress, Dyspnea, Macroglossia, Scoliosis, Pyloric stenosis	ORPHA:363705
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Platyspondyly, Osteopenia, Growth delay, Short toe, Proportionate short stature, Large knee, Scol...	OMIM:619269
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Tularemia	Respiratory distress, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Leuko...	ORPHA:3392
Esophageal Atresia	Abnormal vertebral morphology, Barrett esophagus, Respiratory distress, Intestinal malrotation, E...	ORPHA:1199
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocytopenia, Hepatome...	ORPHA:79312
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Bifid uvula, Respiratory distress, Cleft palate, Anal atresia, Scoliosis, Hip dislocation, Sacral...	OMIM:300968
Mucopolysaccharidosis Type 3	Macroglossia, Recurrent tonsillitis, Conductive hearing impairment, Abnormal form of the vertebra...	ORPHA:581
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Severe short stature, Platyspondyly, Rhizomelia, Cupped ribs, Scoliosis, Short metacarpal, Ovoid ...	ORPHA:85167
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Low-set ears, Supernumerary nipple, Recurrent otitis media, Postnatal growth retardation, Short n...	OMIM:213980
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress	ORPHA:91130
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, High palate, Plantar flexion contracture, Paradoxical respiration	OMIM:620011
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Abnormality of the costochondral junction, Postnatal growth retardation, He...	ORPHA:96334
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Delayed epiphyseal ossification, Rhizomelia, Disproportionate short stature, Narro...	OMIM:250220
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Pectus carinatum, Bifid uvula, Submucous cleft of soft and hard palate, Recurrent otitis media, G...	ORPHA:261552
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Missing ribs, Abnormal rib morphology, Anal atresia, Abnormally ossified vertebra...	ORPHA:3301
Sacral Agenesis With Vertebral Anomalies	Abnormal vertebral morphology, Absence of the sacrum, Neonatal death, Persistent cloaca, Vertebra...	OMIM:615709
Isolated Cleft Lip	Abnormal Eustachian tube morphology, Conductive hearing impairment, Chronic otitis media	ORPHA:199302
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Intrauterine growth retardation, Neutropenia, Abnormal rib morphology	ORPHA:2643
Distal Deletion 9P	Short neck, Enlarged thorax	ORPHA:1642
Kagami-Ogata Syndrome	Thin ribs, Bell-shaped thorax, Splenomegaly, Kyphoscoliosis, Hepatomegaly, Long clavicles, Microtia	OMIM:608149
Iniencephaly	Rhizomelia, Absent vertebra, Hyperlordosis, Mandibular aplasia, Arthrogryposis multiplex congenita	ORPHA:63259
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Broad ribs, Irregular carpal bones, Spondylolisthesis, Short ribs, Hep...	OMIM:252600
Simpson-Golabi-Behmel Syndrome	Abnormal helix morphology, Supernumerary nipple, Tall stature, Cryptorchidism, Hepatoblastoma, Sh...	ORPHA:373
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Intrauterine growth retardation, Abnormal rib morphology	ORPHA:1506
Spondylocarpotarsal Synostosis Syndrome	Pectus carinatum, Block vertebrae, Hypoplasia of the odontoid process, Carpal synostosis, Limited...	OMIM:272460
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Thin ribs, Lumbar hemivertebrae, Macrotia, Tall stature, Abnormal thymus morphology, Pectus excav...	ORPHA:2463
Mucopolysaccharidosis Type 2	Hip osteoarthritis, Otosclerosis, Conductive hearing impairment, Umbilical hernia, Splenomegaly, ...	ORPHA:580
Monosomy 9Q22.3	Low-set ears, Abnormality of the vertebral column, Umbilical hernia, Tall stature, Metopic synost...	ORPHA:77301
Cardiospondylocarpofacial Syndrome	Low-set ears, Conductive hearing impairment, Fusion of middle ear ossicles, Recurrent otitis medi...	OMIM:157800
Lethal Congenital Contracture Syndrome 10	Low-set ears, Narrow palate, Narrow chest, Broad ribs, Intrauterine growth retardation, Thoracic ...	OMIM:617022
Lenz-Majewski Hyperostotic Dwarfism	Broad clavicles, Microglossia, Anteriorly placed anus, Delayed cranial suture closure, Elbow flex...	OMIM:151050
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Abnormal form of the vertebral bodies, Abnormal earlobe morphology, Elbow disl...	ORPHA:2769
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Platyspondyly, Enlargement of the ankles, Acute myelomonocytic leukemia, Abnormal joint morpholog...	ORPHA:99646
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Platyspondyly, Severe B lymphocytopenia, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, ...	OMIM:102700
Gorlin Syndrome	Abnormal vertebral morphology, Vertebral wedging, Cryptorchidism, Rib fusion, Ovarian fibroma, Ve...	ORPHA:377
Auriculocondylar Syndrome	Mandibular condyle aplasia, Bifid uvula, Microglossia, Dental malocclusion, Abnormality of the te...	ORPHA:137888
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Progressive congenital scoliosis, Platyspondyly, Congenital hip dislocation, Osteopenia, Joint di...	OMIM:225400
Baller-Gerold Syndrome	Abnormal vertebral morphology, Low-set ears, Lambdoidal craniosynostosis, Carpal synostosis, Pate...	OMIM:218600
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Otopalatodigital Syndrome Type 2	Low-set ears, Narrow chest, Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Ca...	ORPHA:90652
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Micrognathia	ORPHA:261304
Multiple Osteochondromas	Cervical myelopathy, Rib exostoses, Abnormal cartilage morphology, Talipes valgus, Genu valgum, A...	ORPHA:321
Autosomal Recessive Robinow Syndrome	Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Ankyloglossia, Cryptorchidism,...	ORPHA:1507
Hypophosphatasia	Narrow chest, Anemia, Abnormal rib morphology, Short stature, Craniosynostosis	ORPHA:436
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Marshall Syndrome	Platyspondyly, Macrodontia of permanent maxillary central incisor, Bifid uvula, Micrognathia, Kne...	OMIM:154780
Loeys-Dietz Syndrome 3	Hip osteoarthritis, Osteopenia, Pectus carinatum, Abnormal sternum morphology, Protrusio acetabul...	OMIM:613795
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Anemia, Pancreatitis, Neutropenia, Thrombocytopenia, Hepatomegaly	ORPHA:289916
Mgat2-Cdg	Respiratory distress, Impaired lymphocyte transformation with phytohemagglutinin, Scoliosis, Kyph...	ORPHA:79329
Keutel Syndrome	Short stature, Recurrent otitis media, Calcification of cartilage, Hearing impairment	ORPHA:85202
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Thin ribs, Narrow chest, Abnormal form of the vertebral bodies, Postnatal growth retardation, Abn...	ORPHA:73230
Arterial Tortuosity Syndrome	Respiratory distress, Esophagitis, Median cleft palate, Hiatus hernia, Dyspnea, Craniosynostosis,...	ORPHA:3342
Basal Cell Nevus Syndrome 1	Vertebral wedging, Abnormal sternum morphology, Ovarian carcinoma, Short ribs, Supernumerary ribs...	OMIM:109400
Lymphangiectasia, Intestinal	Prominent floating ribs, Lymphopenia, Stillbirth, Intestinal lymphangiectasia	OMIM:152800
Osteopathia Striata With Cranial Sclerosis	Thoracolumbar kyphosis, Low-set ears, Joint contracture of the hand, Bifid uvula, Conductive hear...	OMIM:300373
Robinow Syndrome, Autosomal Recessive 1	Low-set ears, Hearing impairment, Thoracic hemivertebrae, Delayed cranial suture closure, Cryptor...	OMIM:268310
Cog1-Cdg	Posterior rib gap, Rhizomelia, Low-set, posteriorly rotated ears, Postnatal growth retardation, H...	ORPHA:263508
Cerebrocostomandibular Syndrome	Low-set ears, Postnatal growth retardation, Bell-shaped thorax, Cleft soft palate, Short hard pal...	OMIM:117650
Prader-Willi Syndrome Due To Translocation	Bifid uvula, Carious teeth, Retrognathia, Respiratory distress, Micrognathia, Short neck, High pa...	ORPHA:177907
Shwachman-Diamond Syndrome 2	Low-set ears, Normocytic anemia, Exocrine pancreatic insufficiency, Death in childhood, Death in ...	OMIM:617941
Rubinstein-Taybi Syndrome 1	Delayed cranial suture closure, Micrognathia, Patellar dislocation, Leukemia, Dislocated radial h...	OMIM:180849
Acrorenal-Mandibular Syndrome	Thin ribs, Low-set ears, Hypoplastic scapulae, Absent nipple, Narrow chest, Abnormal sacral segme...	OMIM:200980
Spondyloepimetaphyseal Dysplasia, X-Linked	Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Posterior rib cupping, Lumba...	OMIM:300106
Jacobsen Syndrome	Aplasia/Hypoplasia of the earlobes, Cryptorchidism, Short neck, Duodenal atresia, Hip dislocation...	ORPHA:2308
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly, Hepatic fibrosis, Pectus carinatum, Narrow chest, Microglossia, Thoracic dysplasia...	OMIM:263520
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Aspergillosis	Abnormality of the vertebral column, Hepatitis, Eosinophilia, Abnormal esophagus morphology, Neut...	ORPHA:1163
Kbg Syndrome	Cervical ribs, Macrotia, Cryptorchidism, Rib fusion, Protruding ear, Short neck, Short stature, V...	OMIM:148050
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Cryptorchidism, Horizontal ribs, Lateral cl...	OMIM:615633
Stüve-Wiedemann Syndrome	Smooth tongue, Camptodactyly of finger, Respiratory distress, Elbow flexion contracture, Apnea, G...	ORPHA:3206
Noonan Syndrome 2	Pectus carinatum, Leukemia, Abnormal sternum morphology, Micrognathia, Cubitus valgus, Short neck...	OMIM:605275
Pallister-Hall Syndrome	Microglossia, Atresia of the external auditory canal, Anteriorly placed anus, Decreased response ...	OMIM:146510
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Flat acetabular roof, Carious teeth	OMIM:617102
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress	OMIM:619466
Myhre Syndrome	Platyspondyly, Limitation of joint mobility, Short toe, Short finger, Broad ribs, Intrauterine gr...	OMIM:139210
X-Linked Centronuclear Myopathy	Respiratory distress, High palate	ORPHA:596
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Hepatomegaly, Tachypnea, Death in infancy	OMIM:614299
Gaucher Disease, Perinatal Lethal	Retrognathia, Respiratory distress, Hepatosplenomegaly, Apnea, Micrognathia, Splenomegaly, Neonat...	OMIM:608013
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Abnormality of the vertebral column, Abdominal situs inversus, Abn...	ORPHA:280
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Irregular respiration, Hepatomegaly, High palate	OMIM:604377
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Neutropenia, Short foot,...	ORPHA:93357
Bohring-Opitz Syndrome	Low-set ears, Narrow palate, Joint dislocation, Supernumerary nipple, Intestinal malrotation, Int...	OMIM:605039
Myhre Syndrome	Platyspondyly, Bifid uvula, Hypoplasia of the maxilla, Submucous cleft hard palate, Abnormal rib ...	ORPHA:2588
Pontine Tegmental Cap Dysplasia	Ankle clonus, Rib fusion, Sensorineural hearing impairment, Hemivertebrae, Scoliosis	OMIM:614688
Kagami-Ogata Syndrome	Thoracic hypoplasia, Postnatal growth retardation, Large placenta, Bell-shaped thorax, Kyphoscoli...	ORPHA:254519
Laryngomalacia	Respiratory distress	OMIM:150280
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Splenomegaly	ORPHA:2414
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Elbow dislocation, Micrognathia, Death in childhood, Hip contrac...	OMIM:210710
Sclerosteosis 1	Broad clavicles, Hearing impairment, Broad ribs, Sclerotic vertebral endplates, Sclerotic scapula...	OMIM:269500
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Pectus carinatum, Annular pancreas, Bilateral conductive hearing impairment, Hearing impairment, ...	ORPHA:488642
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Respiratory distress, Jaundice, Megaloblastic anemia, Neutropenia	OMIM:250940
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Apnea, Micrognathia, Hypoventilation, High palate, Prominent metopic ridge	ORPHA:314655
Bronchopulmonary Dysplasia	Respiratory distress, Dyspnea, Central apnea	ORPHA:70589
Listeriosis	Respiratory distress, Cholecystitis, Peritonitis, Hepatic granulomatosis, Granulomatosis, Splenic...	ORPHA:533
Stickler Syndrome	Micrognathia, Genu valgum, Short hard palate, Hip dislocation, Protrusio acetabuli, Hypoplasia of...	ORPHA:828
Coccidioidomycosis	Abnormality of the vertebral column, Respiratory distress, Broad ribs, Abnormality of the spleen,...	ORPHA:228123
Aicardi Syndrome	Block vertebrae, Butterfly vertebrae, Intestinal polyposis, Missing ribs, Supernumerary ribs, Hep...	ORPHA:50
Agnathia-Otocephaly Complex	Microglossia, Respiratory distress, Aglossia, Micrognathia, Mandibular aplasia, Cleft palate	OMIM:202650
Distal Deletion 12Q	Low-set ears, High, narrow palate, Pyloric stenosis, Microglossia, Pituitary adenoma, Annular pan...	ORPHA:96149
Cardioacrofacial Dysplasia 1	Genu valgum, Limb undergrowth, Long thorax	OMIM:619142
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood, Thrombocytopenia	OMIM:615597
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ...	OMIM:271520
Craniotubular Dysplasia, Ikegawa Type	Platyspondyly, Broad ribs, Sclerosis of skull base, Increased intervertebral space, Thin bony cor...	OMIM:619727
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hypoplasia of the zygomatic bone, Anteriorly placed anus, Umbilical hernia, Respiratory distress,...	ORPHA:1555
Stuve-Wiedemann Syndrome 1	Thin ribs, Low-set ears, Smooth tongue, Talipes valgus, Enlarged joints, Elbow flexion contractur...	OMIM:601559
Hallermann-Streiff Syndrome	Thin ribs, Low-set ears, Abnormal rib cage morphology, Decreased number of sternal ossification c...	OMIM:234100
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Non-caseating epithelioid cell granulomatosis, Rheumatoid arthritis, Thymoma, Aplasia...	ORPHA:227990
Carnitine Deficiency, Systemic Primary	Respiratory distress, Hepatomegaly, Decreased carnitine level in liver, Microvesicular hepatic st...	OMIM:212140
Oculocerebrofacial Syndrome, Kaufman Type	High, narrow palate, Retrognathia, Respiratory distress, Micrognathia, Dyspnea	ORPHA:2707
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress	OMIM:616733
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Narrow chest, Unicoronal synostosis, Hamartoma of tongue, Bell-shaped thorax, Cryptor...	OMIM:616300
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Abnormal sternum morphology, Postnatal growth retardation, Micr...	OMIM:163950
Kenny-Caffey Syndrome, Type 1	Thin ribs, Intrauterine growth retardation, Proportionate short stature, Congenital hypoparathyro...	OMIM:244460
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Tachypnea, Dyspnea	OMIM:267450
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Bifid uvula, Respiratory distress, Micrognathia, Macrocytic anemia, Granulocytopenia, Cleft palate	OMIM:606164
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Cholelithiasis, Umbilical hernia, Recurrent otitis media, Broad ribs, Hepatosplenomegaly, Genu va...	OMIM:301066
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Platyspondyly, Joint hypermobility, Carpal bone hypoplasia, Short neck, Advanced ossification of ...	OMIM:610442
Acrocapitofemoral Dysplasia	Pectus carinatum, Narrow chest, Disproportionate short stature, Disproportionate short-limb short...	OMIM:607778
Codas Syndrome	Congenital hip dislocation, Hypoplasia of the odontoid process, Genu valgum, Short humerus, Gener...	OMIM:600373
Van Den Ende-Gupta Syndrome	Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, High palate, Dislocated radial he...	OMIM:600920
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Respiratory distress	OMIM:620375
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Hearing impairment, Ovarian cyst, Hyperpituitarism, Abnormal lumbar...	ORPHA:249
Cardioacrofacial Dysplasia 2	Narrow chest, Genu valgum, Long thorax, Limb undergrowth, Recurrent patellar dislocation	OMIM:619143
Fontaine Progeroid Syndrome	Platyspondyly, Low-set ears, Coronal craniosynostosis, Absent nipple, Conductive hearing impairme...	OMIM:612289
Alfadhel Syndrome	Nasal flaring, Retrognathia	OMIM:620655
Avian Influenza	Hepatitis, Respiratory distress, Lymphopenia, Leukopenia, Tachypnea, Thrombocytopenia, Dyspnea, M...	ORPHA:454836
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Horizontal ribs, Splenomegaly, Short ribs, Aplasia of the epiglottis, Hepat...	OMIM:617088
Anaplastic Thyroid Carcinoma	Respiratory distress, Tracheoesophageal fistula, Dyspnea, Lymphadenopathy	ORPHA:142
Antley-Bixler Syndrome	Narrow chest, Delayed cranial suture closure, Low-set, posteriorly rotated ears, Camptodactyly of...	ORPHA:83
Laryngotracheal Angioma	Respiratory distress, Apnea, Intercostal retractions	ORPHA:137935
Hyperparathyroidism, Transient Neonatal	Thin ribs, Fractured rib, Umbilical hernia, Respiratory distress, Undulate ribs, Splenic cyst, Sh...	OMIM:618188
Trisomy 1Q	Low-set ears, Abnormality of the outer ear, Short thorax, Camptodactyly of finger, Cryptorchidism...	ORPHA:261344
Microphthalmia, Syndromic 9	Severe short stature, Low-set ears, Multilobulated spleen, Intrauterine growth retardation, Crypt...	OMIM:601186
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Joint swelling, Anemia, Gener...	ORPHA:829
X-Linked Hypophosphatemia	Disproportionate short stature, Rachitic rosary, Sacroiliac joint synovitis, Genu valgum, Sensori...	ORPHA:89936
Aspartylglucosaminuria	Platyspondyly, Spondylolysis, Pathologic fracture, Spondylolisthesis, Joint hypermobility, Hepato...	OMIM:208400
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Hepatomegaly	ORPHA:927
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Exertional dyspnea, Orthopnea, Hyperlordosis, Hepatomegaly, Macroglossia, S...	ORPHA:365
Doors Syndrome	Macrodontia of permanent maxillary central incisor, Narrow palate, Respiratory distress, 11 pairs...	ORPHA:79500
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Non-caseating epithelioid cell granulomatosis, Rheumatoid arthritis, Thymoma, Aplasia...	ORPHA:227982
Ulbright-Hodes Syndrome	Thin ribs, Respiratory distress, Micrognathia, Humeroradial synostosis, Short ribs, Short sternum...	ORPHA:3404
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Thoracic hypoplasia, Hamartoma of tongue, Acetabular spurs, Intestinal malrotation, Horizontal ri...	OMIM:613091
Farber Disease	Hepatic fibrosis, Respiratory distress, Hepatosplenomegaly, Abnormality of the wrist, Abnormality...	ORPHA:333
Dextrocardia	Congenital hip dislocation, Abnormality of abdominal situs, Pancreatic hypoplasia, Meckel diverti...	ORPHA:1666
Acrocephalopolydactylous Dysplasia	Low-set ears, Hepatic fibrosis, Polysplenia, Hypoplastic colon, Short neck, Pancreatic fibrosis, ...	OMIM:200995
Alkaptonuria	Joint dislocation, Calcification of cartilage, Hemolytic anemia, Hearing abnormality, Black pigme...	ORPHA:56
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Macroglossia, Prolonged neonatal jaundice, Umbilical hernia	ORPHA:226313
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Hearing impairment, Cryptorchidism, Missing ribs, Abnormal rib morpho...	ORPHA:1647
Fryns Syndrome	Thin ribs, Low-set ears, Abnormal helix morphology, Joint contracture of the hand, Meckel diverti...	OMIM:229850
Isolated Atp Synthase Deficiency	Respiratory distress, Hepatomegaly	ORPHA:254913
Cranioectodermal Dysplasia 2	Low-set ears, Cholestasis, Short neck, Hepatomegaly, High palate, Bile duct proliferation, Portal...	OMIM:613610
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Dyspnea, Lymphadenopathy	ORPHA:411703
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Cleft palate, Hypoplastic distal segments of scapulae, Abnormal rib morphology	OMIM:602196
Beckwith-Wiedemann Syndrome	Hearing impairment, Abnormal earlobe morphology, Tall stature, Large placenta, Cryptorchidism, He...	ORPHA:116
Restrictive Dermopathy 2	Respiratory distress, Microretrognathia, Rectal prolapse	OMIM:619793
Trisomy 8P	Bifid uvula, Malrotation of small bowel, Annular pancreas, Conductive hearing impairment, Aplasia...	ORPHA:264450
Restrictive Dermopathy	Thin ribs, Osteopenia, Camptodactyly of finger, Intrauterine growth retardation, Micrognathia, In...	ORPHA:1662
Ear-Patella-Short Stature Syndrome	Low-set ears, Abnormality of the outer ear, Hearing impairment, Atresia of the external auditory ...	ORPHA:2554
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Horizontal ribs, Short ribs	OMIM:617895
Fetal Akinesia Deformation Sequence 1	Thin ribs, Low-set ears, High, narrow palate, Thoracic hypoplasia, Camptodactyly of finger, Small...	OMIM:208150
Marshall-Smith Syndrome	Atlantoaxial dislocation, Short distal phalanx of finger, Hypoplasia of the odontoid process, Mic...	OMIM:602535
Tetanus	Respiratory distress, Tachypnea, Trismus	ORPHA:3299
Chronic Pneumonitis Of Infancy	Intercostal retractions, Respiratory distress, Tachypnea, Hyperventilation, Mediastinal lymphaden...	ORPHA:91359
Oculocerebrorenal Syndrome Of Lowe	Genu valgum, Cryptorchidism, Patellar dislocation, Hip dislocation, Chronic otitis media, Low-set...	ORPHA:534
Acute Lung Injury	Respiratory distress, Tachypnea, Dyspnea, Acute pancreatitis	ORPHA:178320
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Hepatosplenomegaly, Portal hypertension, Cirrhosis, Hepatomegaly, Esophagea...	ORPHA:367
Branchiooculofacial Syndrome	Low-set ears, Hearing impairment, Supernumerary nipple, Postnatal growth retardation, Ectopic thy...	OMIM:113620
Wolf-Hirschhorn Syndrome	Cryptorchidism, Sensorineural hearing impairment, Radioulnar synostosis, Hip dislocation, Abnorma...	OMIM:194190
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Leukopenia, Leukocytosis, Tachypnea, Neutrophilia, Dyspnea	ORPHA:36238
Noonan Syndrome 3	Pectus carinatum, Juvenile myelomonocytic leukemia, Sagittal craniosynostosis, Left unilambdoid s...	OMIM:609942
Aicardi Syndrome	Block vertebrae, Postnatal growth retardation, Butterfly vertebrae, Missing ribs, Supernumerary r...	OMIM:304050
Lowe Oculocerebrorenal Syndrome	Platyspondyly, Joint contracture of the hand, Hip dislocation, Rickets, Wrist swelling, Camptodac...	OMIM:309000
Autosomal Recessive Kenny-Caffey Syndrome	Thin ribs, Delayed cranial suture closure, Postnatal growth retardation, Intrauterine growth reta...	ORPHA:93324
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Leukopenia, Micrognathia, Hepatic steatosis, Neutropenia, Trismus, Thromboc...	OMIM:616271
Congenital Lobar Emphysema	Respiratory distress	ORPHA:1928
Monosomy 9P	Low-set ears, Abnormality of the vertebral column, Atresia of the external auditory canal, Anotia...	ORPHA:261112
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea	OMIM:263000
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Episodic tachypnea, Hepatic steatosis, Intermittent hyperventilation, Apnei...	ORPHA:348
Slc35A1-Cdg	Giant platelets, Respiratory distress, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Nipah Virus Disease	Respiratory distress	ORPHA:99825
Camptodactyly Syndrome, Guadalajara Type 3	Spina bifida occulta, Short neck, Abnormal pinna morphology, Abnormal rib morphology	ORPHA:488434
Stt3B-Cdg	Respiratory distress, Thrombocytopenia	ORPHA:370924
8Q24.3 Microdeletion Syndrome	Congenital hip dislocation, Microretrognathia, Branchial cyst, Cervical ribs, Respiratory distres...	ORPHA:508488
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Hepatomegaly, Scoliosis, Hepatic fibrosis	OMIM:615273
Smith-Lemli-Opitz Syndrome	Rhizomelia, Hip dislocation, Microglossia, Abnormal form of the vertebral bodies, Low-set, poster...	ORPHA:818
Cryptogenic Organizing Pneumonia	Respiratory distress, Dyspnea, Leukocytosis, Neutrophilia	ORPHA:1302
Weill-Marchesani Syndrome 2	Narrow palate, Spinal canal stenosis, Umbilical hernia, Broad ribs, Lumbar hyperlordosis, Elbow f...	OMIM:608328
Thyroid Lymphoma	Respiratory distress, Dyspnea, Lymphadenopathy	ORPHA:97285
Robinow Syndrome	Low-set ears, Umbilical hernia, Ankyloglossia, Cryptorchidism, Kyphoscoliosis, Missing ribs, Rib ...	ORPHA:97360
Schinzel-Giedion Midface Retraction Syndrome	Low-set ears, Macroglossia, Postnatal growth retardation, Broad ribs, Hypoplasia of first ribs, M...	OMIM:269150
Zttk Syndrome	Low-set ears, Bifid uvula, Growth delay, Cervical ribs, Intrauterine growth retardation, Absent g...	OMIM:617140
Recurrent Respiratory Papillomatosis	Respiratory distress, Tachypnea, Dyspnea	ORPHA:60032
Craniofacial Microsomia 1	Block vertebrae, Cervical ribs, Genu valgum, Micrognathia, Hemivertebrae, Scoliosis, Vertebral hy...	OMIM:164210
Trisomy 18	Narrow palate, Camptodactyly of finger, Low-set, posteriorly rotated ears, Intrauterine growth re...	ORPHA:3380
1P36 Deletion Syndrome	Delayed cranial suture closure, Abnormality of the spleen, Hepatic steatosis, Cryptorchidism, Sen...	ORPHA:1606
Oromandibular Dystonia	Respiratory distress, Abnormality of the temporomandibular joint, Abnormal mandible morphology	ORPHA:93958
Acquired Methemoglobinemia	Respiratory distress, Methemoglobinemia, Dyspnea	ORPHA:464453
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Death in childhood, Anemia, Exertional dyspnea, Hepatomegaly, High palate, ...	OMIM:220110
Diamond-Blackfan Anemia 10	Respiratory distress, Micrognathia, Macrocytic anemia, Supernumerary ribs, Steroid-responsive ane...	OMIM:613309
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Bell-shaped thorax, Cryptorchidism, Horizontal ribs, Neutropenia, Thrombocytopenia, Growth delay,...	OMIM:614857
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hepatic fibrosis, Narrow chest, Thoracic dysplasia, Horizontal ribs, Death in infancy, Short ribs...	OMIM:208500
Severe Acute Respiratory Syndrome	Respiratory distress, Dyspnea	ORPHA:140896
Fraser Syndrome	Abnormality of the outer ear, Anal stenosis, Conductive hearing impairment, Atresia of the extern...	ORPHA:2052
Nestor-Guillermo Progeria Syndrome	Thin ribs, Growth delay, Limited elbow movement, Wide cranial sutures, Delayed closure of the ant...	OMIM:614008
Idiopathic Hypereosinophilic Syndrome	Hepatosplenomegaly, Thrombocytosis, Neutrophilia, Myeloproliferative disorder, Portal fibrosis, A...	ORPHA:3260
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Leukopenia, Pancreatitis, Neutropenia, Thrombocytopenia, Hepatomegaly	OMIM:251000
Weill-Marchesani Syndrome 1	Spinal canal stenosis, Broad ribs, Lumbar hyperlordosis, Proportionate short stature, Short statu...	OMIM:277600
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea, Thrombocytopenia	ORPHA:79242
Congenital Enterovirus Infection	Hepatitis, Respiratory distress, Cholestasis, Leukopenia, Leukocytosis, Abnormal macrophage morph...	ORPHA:292
Autosomal Dominant Popliteal Pterygium Syndrome	Popliteal pterygium, Cryptorchidism, Abnormal rib morphology, Scoliosis, Cleft palate	ORPHA:1300
Microphthalmia With Linear Skin Defects Syndrome	Retrognathia, Respiratory distress, Abnormal dental enamel morphology, Abnormal rectum morphology...	ORPHA:2556
Familial Nasal Acilia	Respiratory distress, Dyspnea	ORPHA:922
Myotonic Dystrophy 1	Respiratory distress, Cholelithiasis	OMIM:160900
Charge Syndrome	Aplasia/Hypoplasia of the earlobes, Hearing impairment, Postnatal growth retardation, Cryptorchid...	ORPHA:138
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress	OMIM:245590
Congenital Diaphragmatic Hernia	Respiratory distress, Intestinal malrotation	ORPHA:2140
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress	OMIM:620166
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Bilateral cryptorchidism, Sacral dimple, Sensorineural hearing impairment, Rib fusion, Celiac dis...	ORPHA:544488
Beare-Stevenson Cutis Gyrata Syndrome	Bifid uvula, Narrow palate, Natal tooth, Anteriorly placed anus, Respiratory distress, Limited el...	OMIM:123790
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Micrognathia, Esophageal atresia, Cleft palate	OMIM:610536
Alagille Syndrome 1	Low-set ears, Cholestasis, Exocrine pancreatic insufficiency, Reduced number of intrahepatic bile...	OMIM:118450
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Death in infancy, Neonatal death, Tachypnea, Exertional dyspnea, Dys...	OMIM:610921
Premature Aging Syndrome, Penttinen Type	Thin ribs, Delayed cranial suture closure, Cervical ribs, Sensorineural hearing impairment, Wormi...	OMIM:601812
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Low-set ears, Annular pancreas, Duodenal atresia, Tall stature, Intrauterine growth retardation, ...	OMIM:616975
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Tachypnea	ORPHA:264675
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Anteriorly placed anus, Respiratory distress, Episodic tachypnea, Tachypnea, Hepatomegaly, Jaundice	ORPHA:26793
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Broad ribs, Abnormal rib morphology, Short ribs	ORPHA:2519
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hepatitis, Respiratory distress, Ileus, Autoimmune hemolytic anemia, Splenomegaly, Abnormal intes...	ORPHA:37042
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Congenital hip dislocation, High palate	OMIM:271225
Pearson Syndrome	Hearing impairment, Postnatal growth retardation, Pancytopenia, Hepatic steatosis, Neutropenia, H...	ORPHA:699
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Microglossia, Mandibular aplasia	ORPHA:990
Scimitar Syndrome	Respiratory distress, Abnormality of the vertebral column	ORPHA:185
Xylt1-Cdg	Joint dislocation, Broad ribs, Short clavicles, Hepatomegaly, Short stature, Growth delay, Cleft ...	ORPHA:370930
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Short stature, Craniosynostosis, Thin ribs, Cleft palate	OMIM:618265
Vater/Vacterl Association	Abnormal vertebral morphology, Occipital encephalocele, Abnormal sternum morphology, Postnatal gr...	OMIM:192350
Hemorrhagic Fever-Renal Syndrome	Dyspnea, Respiratory distress, Leukocytosis, Thrombocytopenia, Anemia, Back pain	ORPHA:340
Congenital Laryngeal Web	Respiratory distress	ORPHA:2374
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, High palate	OMIM:619272
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic stea...	OMIM:615595
Chitayat Syndrome	Respiratory distress	OMIM:617180
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Anteriorly placed anus, Respiratory distress, Submucous cleft hard palate, H...	OMIM:612863
Pachyonychia Congenita	Respiratory distress, Advanced eruption of teeth, Natal tooth, Oral leukoplakia	ORPHA:2309
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress	ORPHA:100057
Bacterial Toxic-Shock Syndrome	Hepatitis, Respiratory distress, Increased circulating myelocyte count, Tachypnea, Peritonitis, T...	ORPHA:36234
Phocomelia, Schinzel Type	Finger aplasia, Disproportionate short stature, Aplasia/Hypoplasia of the sacrum, Micromelia, Foo...	ORPHA:2879
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, High palate, Incisor macrodontia	ORPHA:438216
Floating-Harbor Syndrome	Short thumb, 11 pairs of ribs, Kyphoscoliosis, Short clavicles, Short neck, Shield chest, Short s...	ORPHA:2044
Jacobsen Syndrome	Low-set ears, Annular pancreas, Intrauterine growth retardation, Cryptorchidism, Missing ribs, Sh...	OMIM:147791
Autosomal Dominant Centronuclear Myopathy	Thin ribs, Pyloric stenosis, Cryptorchidism, Miscarriage	ORPHA:169189
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Annular pancreas, Prominent antihelix, Anteriorly placed anus, Crypto...	OMIM:268400
Charge Syndrome	Low-set ears, Postnatal growth retardation, Lymphopenia, Cryptorchidism, Sensorineural hearing im...	OMIM:214800
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w...	OMIM:619313
Currarino Syndrome	Aplasia/Hypoplasia of the sacrum, Sacrococcygeal teratoma	ORPHA:1552
Arboleda-Tham Syndrome	Narrow chest, Microretrognathia, Enlarged proximal interphalangeal joints, Intrauterine growth re...	OMIM:616268
Neonatal Marfan Syndrome	Pectus carinatum, Micrognathia, Joint hypermobility, Flexion contracture, Enlarged thorax	ORPHA:284979
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Tachypnea	OMIM:237310
Japanese Encephalitis	Genu recurvatum, Abnormal pattern of respiration, Respiratory distress, Elbow flexion contracture...	ORPHA:79139
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Macroglossia, Thoracic hypoplasia, Umbilical hernia, Postnatal growth retardation, Intrauterine g...	ORPHA:254528
Moderate Hemophilia A	Joint swelling, Hip contracture, Arthropathy, Synovitis, Cartilage destruction, Joint hemorrhage	ORPHA:169805
Matthew-Wood Syndrome	Low-set ears, Annular pancreas, Duodenal stenosis, Intrauterine growth retardation, Cryptorchidis...	ORPHA:2470
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Thoracic hypoplasia, Umbilical hernia, Postnatal growth retardation, Large placenta, Overgrowth, ...	ORPHA:254534
Ellis-Van Creveld Syndrome	Pectus carinatum, Neonatal short-limb short stature, Narrow chest, Disproportionate short-limb sh...	OMIM:225500
Q Fever	Hepatitis, Respiratory distress, Hepatosplenomegaly, Abnormality of the liver, Cholecystitis, Spl...	ORPHA:781
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Acetabular spurs, Short ribs, Pancreatic fibrosis, Short statur...	OMIM:615503
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Shallow acetabular fossae, Cupped ear, Hearing impairment, Popliteal pterygium, Patellar hypoplas...	OMIM:609945
Infantile Krabbe Disease	Respiratory distress, Ankle clonus	ORPHA:206436
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Tachypnea	OMIM:610978
Autosomal Recessive Malignant Osteopetrosis	Narrow chest, Hearing impairment, Splenomegaly, Otitis media, Anemia, Lymphadenopathy, Abnormal r...	ORPHA:667
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Short stature, Thin ribs, Mild short stature	OMIM:614833
Meconium Aspiration Syndrome	Respiratory distress	ORPHA:70588
Sepsis In Premature Infants	Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Enterocolitis, Neutropenia, Thrombocytopenia, D...	ORPHA:90051
Severe Congenital Nemaline Myopathy	Thin ribs, Low-set ears, Abnormal thorax morphology	ORPHA:171430
Chromosome 1P36 Deletion Syndrome, Distal	Low-set ears, Hearing impairment, Cryptorchidism, Sensorineural hearing impairment, High palate, ...	OMIM:607872
Ciliary Dyskinesia, Primary, 2	Respiratory distress	OMIM:606763
Pagod Syndrome	Abnormal clavicle morphology, Abnormality of the spleen, Encephalocele, Death in infancy, Spina b...	ORPHA:991
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Congenital hip dislocation, Respiratory distress, Cleft palate, Thoracolumbar scoliosis, Patellar...	ORPHA:480880
Pfeiffer Syndrome Type 2	Respiratory distress, Intestinal malrotation, High palate, Anal atresia, Cleft palate	ORPHA:93259
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia, Hepatomegaly	OMIM:251110
Mercury Poisoning	Respiratory distress, Dyspnea	ORPHA:330021
Pfeiffer Syndrome Type 3	Respiratory distress, Intestinal malrotation, High palate, Anal atresia, Cleft palate	ORPHA:93260
Ramos-Arroyo Syndrome	Carious teeth, Xerostomia, Smooth tongue, Respiratory distress, Aganglionic megacolon	ORPHA:1051
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia, Hepatomegaly	OMIM:251100
Biotinidase Deficiency	Respiratory distress, Hyperventilation, Apnea, Myelopathy	ORPHA:79241
Nasolacrimal Duct Cyst	Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress	ORPHA:141083
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Micronodular cirrhosis, Hepatocellular necrosis, Respiratory distress, Cholestasis, Hepatic steat...	OMIM:256810
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Platyspondyly, Abnormality of the vertebral column, Camptodactyly ...	ORPHA:2273
Townes-Brocks Syndrome	Abnormal vertebral morphology, Hearing impairment, Anteriorly placed anus, Cryptorchidism, Abnorm...	ORPHA:857
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Hepatomegaly, Dyspnea	OMIM:115197
Neuroblastoma	Respiratory distress, Anemia, Lymphadenopathy, Thrombocytopenia	ORPHA:635
Lujo Hemorrhagic Fever	Respiratory distress, Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia, Fulminant hepatitis	ORPHA:319213
Infant Acute Respiratory Distress Syndrome	Tachypnea, Nasal flaring	ORPHA:70587
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Intrauterine growth retardation, Abnormal cartilage matrix	ORPHA:86822
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Thin ribs, High palate, Cryptorchidism	ORPHA:456328
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Respiratory distress, Reticulocytosis, Schistocytosis, Thrombo...	OMIM:274150
Fraser Syndrome 1	Low-set ears, Cupped ear, Atresia of the external auditory canal, Conductive hearing impairment, ...	OMIM:219000
Osteopetrosis With Renal Tubular Acidosis	Bone marrow hypocellularity, Conductive hearing impairment, Pancytopenia, Leukopenia, Enlarged to...	ORPHA:2785
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Wrist flexion contracture, Knee flexion contracture	OMIM:618733
Hereditary Acrokeratotic Poikiloderma	Xerostomia, Hearing impairment, Oral leukoplakia, Camptodactyly of finger, Ankyloglossia, Abnorma...	ORPHA:2907
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set ears, Bifid uvula, Hearing impairment, Cervical ribs, Intrauterine growth retardation, Lu...	ORPHA:500150
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Choanal Atresia	Respiratory distress, Craniosynostosis	ORPHA:137914
Martinez-Frias Syndrome	Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Intrauterine growth retardation,...	OMIM:601346
Toxic Epidermal Necrolysis	Respiratory distress, Tracheoesophageal fistula, Pancreatitis, Thrombocytopenia, Neutropenia, Ane...	ORPHA:537
Pallister-Hall Syndrome	Auricular tag, Atresia of the external auditory canal, Hypopituitarism, Cryptorchidism, Radial he...	ORPHA:672
Adnp Syndrome	Respiratory distress, Advanced eruption of teeth, Umbilical hernia	ORPHA:404448
Kasabach-Merritt Phenomenon	Hypopnea, Microangiopathic hemolytic anemia, Respiratory distress, Leukopenia, Reticulocytosis, A...	ORPHA:2330
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Hypoplastic spleen, Polysplenia	OMIM:620642
Lethal Congenital Contracture Syndrome 5	Thin ribs, Death in infancy	OMIM:615368
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Hepatomegaly, Apnea, Hepatic steatosis	ORPHA:17
Cryptococcosis	Respiratory distress, Peritonitis, Cirrhosis, Dyspnea, Lymphoid leukemia, Mediastinal lymphadenop...	ORPHA:1546
Pseudo-Torch Syndrome 2	Hepatomegaly, Thin ribs, Thrombocytopenia	OMIM:617397
Mandibuloacral Dysplasia Progeroid Syndrome	Thin ribs, Delayed cranial suture closure, Postnatal growth retardation, Genu valgum, Death in ch...	OMIM:619127
Hereditary Angioedema Type 1	Respiratory distress, Intestinal edema, Dyspnea, Abnormal soft palate morphology, Abnormal uvula ...	ORPHA:100050
Tracheobronchopathia Osteochondroplastica	Calcification of cartilage, Esophagitis	ORPHA:3348
Isolated Arrhinia	Respiratory distress, Absent nasal septal cartilage, Hypoplasia of the nasal bone	ORPHA:1134
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Jaundice, Glossitis	ORPHA:79282
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Death in childhood, Death in infancy, Multiple rib fractures, Anemia, Hepatomegaly,...	OMIM:612301
Encephalocraniocutaneous Lipomatosis	Osteochondrosis, Abnormal cartilage morphology	ORPHA:2396
Wiedemann-Rautenstrauch Syndrome	Thin ribs, Low-set ears, Narrow chest, Intrauterine growth retardation, Cryptorchidism, Hypoplasi...	OMIM:264090
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress	OMIM:620306
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Cholestasis, Death in infancy, Microvesicular hepatic steatosis, Cirrhosis,...	OMIM:617156
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea	ORPHA:2131
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Tachypnea, Dyspnea	OMIM:610913
Brain-Lung-Thyroid Syndrome	Respiratory distress	ORPHA:209905
Eiken Syndrome	Short stature, Broad ribs, Flat acetabular roof, Delayed ossification of carpal bones	OMIM:600002
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Hypoplasia of the maxilla, Taurodontia	OMIM:305100
Cocaine Intoxication	Respiratory distress, Colitis, Tachypnea, Hyperventilation, Intestinal perforation	ORPHA:90068
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypopnea, Respiratory distress, Apnea, Death in childhood, Death in infancy	OMIM:618426
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Hepatomegaly, Macroglossia	ORPHA:308552
Rodrigues Blindness	Nasal flaring	OMIM:268320
Lymphatic Malformation 7	Respiratory distress, Anemia	OMIM:617300
Ethylene Glycol Poisoning	Gastritis, Tachypnea, Abnormal pattern of respiration, Episodic respiratory distress	ORPHA:31826
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Episodic respiratory distress, Hepatomegaly, Dyspnea, Hyperventilation	ORPHA:255210
Colchicine Poisoning	Respiratory distress, Leukocytosis	ORPHA:31824
Severe Generalized Junctional Epidermolysis Bullosa	Dyspnea, Respiratory distress, Enamel hypoplasia, Anemia, Esophageal stricture	ORPHA:79404
Pmm2-Cdg	Platyspondyly, Hepatic fibrosis, Retrognathia, Respiratory distress, Kyphoscoliosis, Impaired neu...	ORPHA:79318
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Macroglossia, Apnea	OMIM:261740
Plague	Inflammation of the large intestine, Lymphadenitis, Respiratory distress, Splenomegaly, Ileitis, ...	ORPHA:707
Aceruloplasminemia	Hypochromic microcytic anemia, Elevated hepatic iron concentration, Abnormal pancreas morphology,...	ORPHA:48818
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Pancreatic hypoplasia, Cervical ribs, Respiratory distress, Exocrine pancreatic insufficiency, Um...	ORPHA:2255
Gitelman Syndrome	Chondrocalcinosis, Respiratory distress, Gout, Iron deficiency anemia, Neoplasm of the pancreas	ORPHA:358
Complete Atrioventricular Septal Defect	Hepatomegaly, Tachypnea, Intercostal retractions	ORPHA:1329
Reactive Arthritis	Inflammation of the large intestine, Arthritis, Joint swelling, Cartilage destruction	ORPHA:29207
Congenital Tracheal Stenosis	Meckel diverticulum, Duodenal stenosis, Respiratory distress, Abnormal stomach morphology, Trache...	ORPHA:141127
Nocardiosis	Lymphadenitis, Respiratory distress, Peritonitis, Dyspnea, Liver abscess	ORPHA:31204
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Recurrent otitis media, Abnormal Eustachian tube morphology	ORPHA:513456
Oculopharyngodistal Myopathy 1	Respiratory distress, High palate	OMIM:164310
Kindler Epidermolysis Bullosa	Inflammation of the large intestine, Camptodactyly of finger, Esophagitis, Abnormality of the anu...	ORPHA:2908
Congenital Tracheomalacia	Intercostal retractions, Apnea, Tracheoesophageal fistula, Esophageal atresia, Dyspnea	ORPHA:95430
Alström Syndrome	Hepatic fibrosis, Hepatitis, Respiratory distress, Hepatosplenomegaly, Portal hypertension, Hepat...	ORPHA:64
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu...	ORPHA:449432
Tuberous Sclerosis Complex	Respiratory distress, Pulmonary lymphangiomyomatosis, Hepatic cysts	ORPHA:805
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Nasal flaring	ORPHA:466943
Aortic Arch Interruption	Respiratory distress, Tachypnea, Exertional dyspnea	ORPHA:2299
Eisenmenger Syndrome	Increased mean corpuscular volume, Respiratory distress, Abnormality of the liver, Iron deficienc...	ORPHA:97214
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Xerostomia, Respiratory distress, Abnormality of the anus, Neutropenia, Anemia, Intestinal perfor...	ORPHA:95455
Leptospirosis	Hepatitis, Respiratory distress, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Jaundice	ORPHA:509
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress	OMIM:614748
Congenital Total Pulmonary Venous Return Anomaly	Paroxysmal dyspnea, Respiratory distress, Apneic episodes in infancy, Exertional dyspnea, Hepatom...	ORPHA:99125

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 Nkx3-2

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 Nkx3-2.

No publications found that use IMPC mice or data for Nkx3-2.

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
Nkx3-2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Nkx3-2^{tm2e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Nkx3-2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Nkx3-2^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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