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Gene: Hoxb8 MGI:96189

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
homeobox B8
Synonyms:
Hox-2.4

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 Hoxb8 mutations

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

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

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

The table below shows human diseases predicted to be associated to Hoxb8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cervical Rib
Cervical ribs OMIM:117900
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Abnormality of the ... ORPHA:3268
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r... OMIM:173800
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... OMIM:617405
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Autosomal Dominant Spondylocostal Dysostosis
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Thoracic Dysostosis, Isolated
Pectus excavatum, Short ribs, Bell-shaped thorax OMIM:187750
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum OMIM:619986
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Abnormal rib morpholo... ORPHA:2790
Femoral-Facial Syndrome
Thin upper lip vermilion, Short femur, Micrognathia, Abnormal sacrum morphology, Rib fusion, Abno... ORPHA:1988
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerar... ORPHA:64755
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... OMIM:187760
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Pyle Disease
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t... OMIM:265900
Non-Epidermolytic Palmoplantar Keratoderma
Erythema, Skin ulcer ORPHA:2337
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends, Coxa vara, Short palm ORPHA:168555
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Micrognathia... ORPHA:1801
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Anonychia-Microcephaly Syndrome
Clinodactyly of the 5th finger, Carious teeth, Abnormality of the dentition ORPHA:1094
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Narrow chest, Abnormal ... ORPHA:1354
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A... OMIM:602196
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Hypersulfaturia
Costochondral pain OMIM:620372
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... OMIM:613686
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Abnormal pala... ORPHA:1506
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Halberd-shaped pelvis, Narr... OMIM:156530
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... ORPHA:2311
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Irregular vertebral endplates, Knee dislocation, High palate... OMIM:618363
Fibrochondrogenesis 2
Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti... OMIM:614524
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... OMIM:615633
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Abnormali... ORPHA:2501
Spondyloepimetaphyseal Dysplasia, Irapa Type
Waddling gait, Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum,... OMIM:271650
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notch, Waddling ... OMIM:608728
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Osteoarthritis, Abnormal joint morphology, Abnormal rib morphology, Abnormal ca... ORPHA:93351
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Pectus excavatum, Kyphosis, Dentinogenesis imperfecta, Pectus carinatum, Platyspondy... OMIM:259440
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer ORPHA:31112
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... ORPHA:474
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal rib morpholo... ORPHA:2635
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Anterior rib cupping, Short stature, Proximal femoral metaphyseal irregularity, Dispr... OMIM:602271
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retardation, Proxi... ORPHA:168549
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Short neck, Tapered finger, Multiple joint dislocation, Hip dislocation, ... OMIM:618395
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Abnormality of the ... ORPHA:276422
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs ORPHA:66630
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Diaphanospondylodysostosis
Short neck, Missing ribs, Short thorax, Enlarged thorax, Narrow pelvis bone, Absent or minimally ... ORPHA:66637
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... OMIM:184252
Grant Syndrome
Joint dislocation, Bowing of the long bones, Micrognathia, Open bite, Abnormal rib morphology, Ab... ORPHA:2097
Cerebrofaciothoracic Dysplasia
Short neck, Cleft upper lip, Rib fusion, Hemivertebrae, Cleft palate, Wide mouth, Vertebral segme... ORPHA:1394
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Dental malocclusion,... OMIM:608940
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Short neck, Micrognathia, Glossoptosis, Vertebral segmentation defect, High p... OMIM:611209
Multiple Pterygium Syndrome, Escobar Variant
Short neck, Micrognathia, Knee flexion contracture, Downturned corners of mouth, High palate, Int... OMIM:265000
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Spondyloepimetaphyseal Dysplasia, Missouri Type
Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bo... OMIM:602111
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Abnormal dental morphology, Hyperlordosis, Pectus excavatum, Short ... ORPHA:2522
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb, Short neck, ... ORPHA:93267
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Mucopolysaccharidosis Type 4
Joint dislocation, Bowing of the long bones, Abnormal dental enamel morphology, Hyperlordosis, Sh... ORPHA:582
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... OMIM:184250
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft palate, Abnormal shoulder ... ORPHA:2345
Thoracomelic Dysplasia
Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Bell-shape... ORPHA:1803
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ... ORPHA:239
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Short palm,... OMIM:268310
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Pseudoachondroplasia
Genu recurvatum, Spatulate ribs, Osteoarthritis, Delayed epiphyseal ossification, Metaphyseal wid... OMIM:177170
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Downturned corners of mouth, Abnormal epiphysis morphology, Enamel hypop... ORPHA:2643
Dental Ankylosis
Clinodactyly of the 5th finger, Tooth agenesis, Abnormal dental enamel morphology, Mandibular pro... ORPHA:1077
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, He... ORPHA:2180
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Dental malocclusion, Abnormal pelvic girdle bone morphology, Metacarpal... OMIM:144750
Mosaic Trisomy 14
Camptodactyly of finger, Micrognathia, Short neck, Abnormal rib morphology, Cleft palate, Wide mo... ORPHA:1703
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, K... OMIM:313400
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Pectus carinatum, Downturn... ORPHA:1507
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar... ORPHA:1452
Hypophosphatasia, Childhood
Premature loss of primary teeth, Craniosynostosis, Carious teeth, Bowing of the legs, Rachitic ro... OMIM:241510
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Chilblain Lupus 1
Skin ulcer OMIM:610448
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... OMIM:253000
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Skin ulcer, Gait disturbance, Acral ulceration, Abnorm... ORPHA:139578
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... OMIM:223800
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, Bell-shaped tho... OMIM:255710
Orofaciodigital Syndrome Xviii
Sandal gap, Postaxial polydactyly, Accessory oral frenulum, Diastema, Cleft lip, Preaxial polydac... OMIM:617927
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Wormian bones, Coxa valga,... OMIM:269300
Holt-Oram Syndrome
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... ORPHA:392
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis, Pseudoarthrosis OMIM:618155
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finge... ORPHA:628
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Delayed cranial s... ORPHA:2484
Kbg Syndrome
Vertebral fusion, Syndactyly, Tented upper lip vermilion, Macrodontia, Short neck, Rib fusion, Ve... OMIM:148050
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... ORPHA:2319
Pycnodysostosis
Brachydactyly, Persistent open anterior fontanelle, Wormian bones, Aplastic clavicle, Micrognathi... OMIM:265800
Dysosteosclerosis
Micrognathia, Increased intervertebral space, Absent frontal sinuses, Hypoplastic vertebral bodie... OMIM:224300
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Camptodactyly of finger, Multiple pterygia, Micrognathia, Pectus excavatum, Ri... ORPHA:2990
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ... ORPHA:2972
3M Syndrome
Congenital hip dislocation, Short neck, Increased vertebral height, Enlarged thorax, Clinodactyly... ORPHA:2616
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Craniofacial osteosclerosis, Di... OMIM:122860
White Forelock With Malformations
Finger syndactyly, Deep philtrum, Abnormal rib morphology, Clinodactyly of the 5th finger, Spreng... ORPHA:2475
Three M Syndrome 2
Delayed eruption of teeth, Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Sho... OMIM:612921
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Diastema, Open bite, G... OMIM:619698
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Abnormal number of incisors, Coxa valga, Finger clinodactyly, Patellar subluxation, Supernumerary... ORPHA:2958
Lethal Congenital Contracture Syndrome Type 1
Short neck, Micrognathia, Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the... ORPHA:1486
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kypho... ORPHA:3082
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... ORPHA:2234
Eiken Syndrome
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... OMIM:600002
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... OMIM:269250
Cole-Carpenter Syndrome
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ... ORPHA:2050
Pontine Tegmental Cap Dysplasia
Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis OMIM:614688
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... OMIM:187601
Cog1-Cdg
Smooth philtrum, Irregularity of vertebral bodies, Thin upper lip vermilion, Kyphoscoliosis, Shor... ORPHA:263508
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Micrognathia, Cleft upper lip, Abnormal rib morphology, Cleft palate, Abnormality of the vertebra... OMIM:601076
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Micrognathia, Rib fusion, Cleft palate, Hand polydactyly, Scoliosis, Abnormal v... ORPHA:261197
Trichotillomania
Hair-pulling, Alopecia OMIM:613229
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Short neck, Micrognathia, Hypoplasia of the maxilla, Hem... OMIM:213980
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Kyphosis, Dental malocclusion... ORPHA:1858
Achondrogenesis Type 1B
Short neck, Micrognathia, Short thorax, Abnormal rib morphology, Short foot, Narrow chest, Long p... ORPHA:93298
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Thoracic kyphoscoliosis, Generalized hypoplasia of dental enamel, Carious teeth, Hip dislocation,... OMIM:203550
Hypophosphatasia
Bowing of the long bones, Craniosynostosis, Abnormality of the dentition, Abnormal rib morphology... ORPHA:436
Classic Mycosis Fungoides
Alopecia, Splenomegaly, Erythema, Skin ulcer, Dry skin, Abnormal lymphocyte morphology, Abnormali... ORPHA:2584
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... OMIM:134780
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Small hand, Th... ORPHA:93324
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... OMIM:250420
Robinow Syndrome
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty... ORPHA:97360
Chst3-Related Skeletal Dysplasia
Barrel-shaped chest, Delayed eruption of teeth, Short metacarpal, Enlarged joints, Kyphoscoliosis... ORPHA:263463
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Coxa vara, Metaphyseal cupping of metacarpals, Thoracic kyphosi... OMIM:300232
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Thin ribs... OMIM:300863
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Hereditary Sensory And Autonomic Neuropathy Type 1
Neuropathic arthropathy, Inability to walk, Penetrating foot ulcers, Skin ulcer, Steppage gait, G... ORPHA:36386
Cat-Eye Syndrome
Hip dysplasia, Abnormal rib morphology ORPHA:195
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, Abnormal form... ORPHA:2021
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Arachnodactyly, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Missing ribs, Abno... ORPHA:2759
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... OMIM:225500
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Craniosynostosis, Micrognathia, Split hand, Abnormal rib morphology, Cleft pal... ORPHA:2145
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Short neck, Micrognathia, Hemivertebrae, Orofacial cleft, Pectus ca... ORPHA:958
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Radial bowing, Ovoid vertebral bodies, Dumbbell-shaped long bone, Sho... OMIM:151210
Acrogeria
Short stature, Small hand, Skin ulcer, Short foot, Excessive wrinkled skin, Scoliosis ORPHA:2500
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Abnormal ri... ORPHA:3035
Frontometaphyseal Dysplasia 1
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... OMIM:305620
Buerger Disease
Skin ulcer ORPHA:36258
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Post... OMIM:258850
Aicardi Syndrome
Prominence of the premaxilla, Block vertebrae, Missing ribs, Cleft upper lip, Rib fusion, Small h... ORPHA:50
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Cleft palate, Scoliosis, Cervical C2/C3 vertebral fusion, Sp... OMIM:118100
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Short Stature And Facioauriculothoracic Malformations
Abnormal odontoid process morphology, Short neck, Pectus excavatum, Cleft upper lip, Cleft palate... OMIM:609654
Cenani-Lenz Syndrome
High, narrow palate, Abnormal form of the vertebral bodies, Foot oligodactyly, Short philtrum, Sy... ORPHA:3258
Kenny-Caffey Syndrome, Type 1
Long clavicles, Delayed closure of the anterior fontanelle, Carious teeth, Thin clavicles, Small ... OMIM:244460
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Failure of eruption of permanent teeth, Aplastic clavicle, Missing ribs, C... ORPHA:2769
Acrocapitofemoral Dysplasia
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... OMIM:607778
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Platyspondyly, Oligodontia, Widely spaced teeth... OMIM:601216
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Down-sloping shoulders, Carious teeth, Scoliosis, Clinodactyly of the 5th finger, Malar flattenin... ORPHA:1390
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S... OMIM:200610
Renpenning Syndrome
Mandibular prognathia, Macrodontia, Pectus excavatum, Abnormal thumb morphology, High, narrow pal... ORPHA:3242
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Beaded ribs, Thin ribs, Bell-shaped thorax, Tibial bowing,... OMIM:166210
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Facial palsy, Skin ulcer ORPHA:1114
Achondrogenesis Type 1A
Multiple rib fractures, Short neck, Micrognathia, Short thorax, Short foot, Narrow chest, Short p... ORPHA:93299
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,... ORPHA:163966
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... OMIM:253010
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Obtuse angle of mandible, Short tubular bones of the hand, Coxa valga, Micrognathia, Vertebral ar... ORPHA:85184
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Mucolipidosis Iii Gamma
Hyperlordosis, Short neck, Kyphosis, Flat capital femoral epiphysis, Pectus carinatum, Genu valgu... OMIM:252605
Lymphangiectasia, Intestinal
Prominent floating ribs OMIM:152800
Three M Syndrome 1
Joint dislocation, Scapular winging, Short stature, Short neck, Pectus excavatum, Postnatal growt... OMIM:273750
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Genu varum, Fibular overgrowth... OMIM:602557
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners ... ORPHA:280
Hyperkeratosis Lenticularis Perstans
Skin ulcer ORPHA:409
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Beaded ri... OMIM:616229
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Slender long bone, Retrognathia, Brachyd... OMIM:618265
Pallister-Hall Syndrome
Syndactyly, Natal tooth, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, ... OMIM:146510
Brachydactyly, Type E1
Short metacarpal, Short metatarsal, Straight clavicles, Short clavicles, Multiple impacted teeth,... OMIM:113300
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Micrognathia, Kyphosis, Tibial bowing, Thin ribs, Slender long bone, Scolios... OMIM:259420
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer ORPHA:2218
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Micrognathia, Abnormality of the dentition, Femoral bowing, Thin ribs, ... OMIM:617952
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula... OMIM:252600
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Lateral clavicle hook, Hypoplastic ilia, ... OMIM:617895
Aicardi Syndrome
Prominence of the premaxilla, Block vertebrae, Proximal placement of thumb, Missing ribs, Cleft u... OMIM:304050
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Microphthalmia, Syndromic 3
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... OMIM:206900
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Tapered toe, Tapered finger, Rib fusion, Clinodactyly of the 5th finger, Retrognathia ORPHA:544488
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Accessory oral frenulum, Short thorax, Osteolysis involving bones of the upper limbs,... ORPHA:88630
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Bowing of the legs, Pectus excavatum, Coxa valga, Coxa vara, Bell-shaped tho... OMIM:619131
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Micrognathia, Carious teeth, Flared metaphysis, Hypoplastic pubic ... ORPHA:93346
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Abnormal rib morphology, Cleft palate,... ORPHA:83
Cole-Carpenter Syndrome 2
Microretrognathia, Wide cranial sutures, Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, Hi... OMIM:616294
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Abnormal rib morphology, Abnormal for... ORPHA:2876
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu... OMIM:187600
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... OMIM:211350
Cooper-Jabs Syndrome
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Abno... ORPHA:1488
Dysostosis, Stanescu Type
Bowing of the long bones, Persistent open anterior fontanelle, Wormian bones, Abnormal dental ena... ORPHA:1798
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Abnormality of the wrist, Osteoarthritis, Skin ulcer, Abnormal diaphysis morph... ORPHA:1657
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... OMIM:618019
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short stature, Iliac crest serration, Short neck, Postnatal growth retardation, Wide distal femor... OMIM:613320
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... ORPHA:1145
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent... OMIM:119600
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia OMIM:226650
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue, Abn... ORPHA:2167
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Bulging epiphyses, Bowing of the legs, Enlargement of the costochondra... OMIM:600081
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Micrognathia, Non-midline c... ORPHA:1300
Aplasia Cutis-Myopia Syndrome
Skin ulcer ORPHA:1117
Achondrogenesis, Type Ia
Barrel-shaped chest, Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sa... OMIM:200600
Eem Syndrome
Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Ectrodact... ORPHA:1897
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:312150
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... ORPHA:2347
Spondylometaphyseal Dysplasia, Sedaghatian Type
Redundant skin, Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow gr... OMIM:250220
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of ... OMIM:613091
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... OMIM:300106
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Lateral clavicle hook, Hypoplasia of the... OMIM:600920
Desbuquois Dysplasia 2
Short neck, Metaphyseal widening, Pectus carinatum, Knee dislocation, Narrow chest, Short phalanx... OMIM:615777
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Wolf-Hirschhorn Syndrome
Micrognathia, Abnormal form of the vertebral bodies, Orofacial cleft, Downturned corners of mouth... OMIM:194190
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Kyphosis, Thick lower lip ve... ORPHA:583
Osteogenesis Imperfecta, Type X
Multiple rib fractures, Thoracic scoliosis, Short femur, Bowing of the long bones, Micrognathia, ... OMIM:613848
X-Linked Hypophosphatemia
Beaded ribs, Bowing of the legs, Trapezoidal distal femoral condyles, Vertebral hyperostosis, Abn... ORPHA:89936
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short thorax, ... OMIM:617102
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, High palate, Spina bifida occulta, Abn... OMIM:218600
Cleidocranial Dysplasia 2
Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Delayed eruptio... OMIM:620099
Xylt1-Cdg
Joint dislocation, Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Thick vermilion ... ORPHA:370930
Trichorhinophalangeal Syndrome, Type I
Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Pectus carinatum, Cone-shaped epip... OMIM:190350
Dracunculiasis
Arthritis, Skin ulcer ORPHA:231
Juvenile Hyaline Fibromatosis
Abnormal hair morphology, Skin ulcer ORPHA:2028
Radio-Renal Syndrome
Short neck, Micrognathia, High, narrow palate, Hypoplasia of the radius, Abnormal rib morphology,... ORPHA:3015
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... OMIM:186500
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... ORPHA:79345
Zttk Syndrome
Craniosynostosis, Abnormality of the dentition, Hypoplasia of the maxilla, Kyphosis, Narrow mouth... OMIM:617140
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Retrognathia, High palate, Thin ribs ORPHA:456328
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Pycnodysostosis
Abnormal clavicle morphology, Obtuse angle of mandible, Persistent open anterior fontanelle, Micr... ORPHA:763
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Hyperlordosis, Abnormal rib morphology, Pectus carinatum, Abnormal hip... ORPHA:3068
Distal Duplication 18Q
Arachnodactyly, Camptodactyly of finger, Abnormal dental morphology, Short neck, Pectus excavatum... ORPHA:1716
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Micrognathia, Pectus excavatum, Submucous cleft hard palate, Unilateral cleft l... OMIM:619122
Acromesomelic Dysplasia 4
Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,... OMIM:619636
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Anemia, Leukopenia, Pallo... ORPHA:507
Complex Regional Pain Syndrome
Abnormality of hair growth, Slow-growing nails, Erythema, Dry skin, Allodynia ORPHA:83452
Reticular Dysgenesis
Anemia, Leukopenia, Skin ulcer, Abnormality of neutrophils ORPHA:33355
Sclerosteosis 1
Mandibular prognathia, Syndactyly, Sclerotic scapulae, Broad clavicles, Malar flattening, 2-3 fin... OMIM:269500
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Short palm, Hy... OMIM:611717
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Preaxial hand polydactyly, Sprengel anomaly, Cervical ribs, Thoracolumbar scoliosis OMIM:601389
Pyknoachondrogenesis
Craniofacial hyperostosis, Hypoplastic ischia, Short iliac bones, Short thorax, Abnormal iliac wi... ORPHA:3003
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Thin ribs, ... OMIM:610915
Free Sialic Acid Storage Disease
Athetosis, Gait disturbance, Ataxia, Skin ulcer ORPHA:834
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal... ORPHA:90652
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Skin ulcer, Purpura ORPHA:743
Infantile Myofibromatosis
Abnormal thorax morphology, Abnormal sacrum morphology, Skin ulcer, Abnormal metaphysis morpholog... ORPHA:2591
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:253290
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology ORPHA:2772
Ollier Disease
Abnormal metaphysis morphology, Skin ulcer, Platyspondyly ORPHA:296
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subp... OMIM:264700
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac... ORPHA:85167
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... OMIM:271640
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Posterior wedging of vertebr... ORPHA:50814
Monosomy 18P
Kyphoscoliosis, Short neck, Pectus excavatum, Micrognathia, Carious teeth, Cleft palate, Downturn... ORPHA:1598
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Exaggerated ... ORPHA:2215
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short neck, Missing ribs, Micrognathia, Abnormal rib morphology, Gingiva... ORPHA:1834
Bent Bone Dysplasia Syndrome 2
Bowed humerus, Short neck, Ulnar bowing, Thin ribs, Femoral bowing, Coronal cleft vertebrae, Plat... OMIM:620076
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Coxa v... ORPHA:1517
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... ORPHA:2519
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Short femur, Fractured radius, Short neck, Beaded ribs, Decreased fibular... OMIM:616897
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th fing... OMIM:117650
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short neck, Bowing of the legs, Micrognathia, Pectus carinatum, Abnormal calcification of the car... OMIM:271665
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, A... ORPHA:1120
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subp... OMIM:277440
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... ORPHA:93317
Necrobiosis Lipoidica
Erythema, Granuloma, Skin ulcer, Abnormality of neutrophil physiology ORPHA:542592
Flynn-Aird Syndrome
Kyphosis, Ataxia, Skin ulcer, Scoliosis ORPHA:2047
Trisomy 13
Median cleft lip, Abnormality of the dentition, Kyphosis, Postaxial hand polydactyly, High, narro... ORPHA:3378
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia, Pyoderma gangrenosum, Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Limited Cutaneous Systemic Sclerosis
Narrow foramen obturatorium, Joint contracture of the hand, Skin ulcer ORPHA:220402
Greenberg Dysplasia
Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Tetraphocomelia, Hypoplastic vertebral bodi... OMIM:215140
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of neutrophils, Thrombocytopenia, Skin ulcer, ... ORPHA:229717
Lichen Planopilaris
Alopecia, Onycholysis, Abnormal fingernail morphology, Skin ulcer ORPHA:525
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bo... ORPHA:73230
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ... OMIM:616300
Adult Polyglucosan Body Disease
Gait disturbance, Ataxia, Skin ulcer ORPHA:206583
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Pyoderma gangrenosum, B lymphocytopen... OMIM:150550
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overlapping fingers, Short neck, Micrognathia, Narrow palate, Femoral bowing,... OMIM:617022
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the ankles, Bulging epiphyses, Bowing of the legs, Enlargement of the costochondra... OMIM:241530
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Abnormal sternum mo... ORPHA:2911
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Skin ulcer, ... ORPHA:978
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Fused cervical vertebrae, Pseudoepiphyses, ... OMIM:157800
Campomelia, Cumming Type
Abnormally ossified vertebrae, Bowing of the long bones, Abnormal thorax morphology, Abnormal rib... ORPHA:1318
Crisponi/Cold-Induced Sweating Syndrome 1
Kyphoscoliosis, Tapered finger, Short neck, Micrognathia, Narrow mouth, Carious teeth, Trismus, E... OMIM:272430
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... OMIM:210720
Opsismodysplasia
Short metacarpal, Anterior rib cupping, Short neck, Hypoplasia of the odontoid process, Squared i... OMIM:258480
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flat glenoid fos... OMIM:224690
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Short stature, Pseudoepiphyses of the metacarpals, Coxa val... OMIM:618150
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Skin ulcer, Anemia, Pallor, Thrombocytopenia ORPHA:848
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Hypoplasia of the maxilla, Narro... ORPHA:2588
Acrorenal-Mandibular Syndrome
Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplasia of the ulna, Split hand, Split... OMIM:200980
Kagami-Ogata Syndrome
Long clavicles, Kyphoscoliosis, Coxa valga, Micrognathia, Long fingers, Hypoplasia of the maxilla... OMIM:608149
Cartilage-Hair Hypoplasia
Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pectus carinatum... ORPHA:175
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Lumbar hyperlordosis, Aganglionic megacolon, Absent pubertal growth spurt,... OMIM:250250
Acrofacial Dysostosis, Catania Type
Microretrognathia, Finger syndactyly, Abnormality of the dentition, Pectus excavatum, Carious tee... ORPHA:1786
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Vertebral fusion, Short distal phalanx of the thumb, Odontogenic keratocys... OMIM:109400
Charcot-Marie-Tooth Disease Type 4B2
Decreased distal sensory nerve action potential, Kyphoscoliosis, Tremor, Inability to walk, Optic... ORPHA:99956
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis OMIM:252900
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1647
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Micrognathia, Missing ribs, Abnormal rib morphology, Orofacial cle... ORPHA:3301
Schwartz-Jampel Syndrome
Short neck, Micrognathia, Coxa vara, Pectus carinatum, High palate, Wrist flexion contracture, Pu... ORPHA:800
Bare Lymphocyte Syndrome, Type I
Skin ulcer OMIM:604571
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pyoderma gangrenosum, Elbow flexion contracture, Sterile arthritis, Knee flexion contracture, Art... OMIM:604416
Chilblain Lupus
Finger swelling, Skin ulcer ORPHA:90280
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... ORPHA:2970
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Micrognathia, Patellar aplasia, Abnormal rib morphology, Cle... ORPHA:96061
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulder flexion contracture,... OMIM:620369
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Irregular, rachitic-l... ORPHA:289157
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Mild short stature, Short stature, Optic nerve hypoplasia, Thin ribs OMIM:614833
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Overlapping toe, Exaggerated cupid's bow, Pectus excavatum, Retrognathia, Macroglossia,... ORPHA:254528
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer ORPHA:312
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Everted lower lip vermilion, Beaki... OMIM:252930
Familial Multiple Nevi Flammei
Skin ulcer, Scoliosis, Abnormal cranial nerve morphology ORPHA:624
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254534
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Ectopi... ORPHA:2919
Narcolepsy 3
Narcolepsy OMIM:609039
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Metaphyseal wide... OMIM:182212
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Arachnodactyly, Camptodactyly of finger, Carious teeth, Kyphosis, Joint contracture of the 5th fi... ORPHA:1883
Stuve-Wiedemann Syndrome 1
Enlarged joints, Short neck, Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contractur... OMIM:601559
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Early ossification of capital femoral epiphyses, C... OMIM:208500
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Anterior wedging of L... OMIM:253200
1P36 Deletion Syndrome
11 pairs of ribs, Camptodactyly of finger, Kyphosis, Narrow mouth, Rib fusion, Spinal canal steno... ORPHA:1606
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia, Skin ulcer ORPHA:217390
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Hamartoma of tongue, Lateral clavicle hook, Preaxial hand polydactyly, Postaxia... OMIM:263520
Pallister-Hall Syndrome
Hemivertebrae, Bifid uvula, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Accessory or... ORPHA:672
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae OMIM:252920
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Acral ulceration OMIM:613115
Alagille Syndrome
Hypoplasia of the ulna, Micrognathia, Abnormal rib morphology, Abnormal form of the vertebral bod... ORPHA:52
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm... ORPHA:249
Trisomy 1Q
Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydac... ORPHA:261344
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Protrusio acetabuli, Femoral r... OMIM:610682
Cutis Laxa, Autosomal Dominant 3
Os odontoideum, Dermal translucency, Postnatal growth retardation, Hip dislocation, Cutis laxa, W... OMIM:616603
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... OMIM:609945
Gracile Bone Dysplasia
Flared metaphysis, Thin ribs, Slender long bone, Ankyloglossia, Brachydactyly OMIM:602361
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hemophagocytosis, Skin ulcer, Hepatosplenomegaly ORPHA:86884
Prolidase Deficiency
Abnormal fingernail morphology, Splenomegaly, Erythema, Low anterior hairline, Skin ulcer, White ... ORPHA:742
Shwachman-Diamond Syndrome 1
Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal sclerosis, Enlargement of the costochon... OMIM:260400
Occipital Horn Syndrome
Short humerus, Persistent open anterior fontanelle, Orthostatic hypotension, Redundant skin, Pelv... OMIM:304150
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Spinal ... ORPHA:231222
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Skin ulcer, Anemia, Neutropenia, Thrombocytopenia ORPHA:47
Brooke-Spiegler Syndrome
Skin appendage neoplasm, Trichoepithelioma, Cylindroma, Skin ulcer ORPHA:79493
Neuropathy, Hereditary Sensory And Autonomic, Type V
Arthropathy, Low back pain, Osteoarthritis, Hand tremor, Acral ulceration, Septic arthritis OMIM:608654
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Absent thumb, Hypoplasia of the maxilla, Sa... ORPHA:500150
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Sparse hair ORPHA:659
Familial Keratoacanthoma
Skin ulcer ORPHA:493
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Cleft uppe... OMIM:607872
Prolidase Deficiency
Petechiae, Thrombocytopenia, Splenomegaly, Skin ulcer, Low posterior hairline, Facial hirsutism, ... OMIM:170100
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Postaxial polydactyly, Short neck, Lateral clavicle hook, Micrognathia, Hamartoma of... OMIM:617925
Campomelic Dysplasia
Irregular dentition, Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia,... OMIM:114290
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Short neck, Pectus excavatum, Kyph... ORPHA:77301
Narcolepsy 1
Narcolepsy OMIM:161400
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Wide cranial sutures, Broad long bones, Dental crowding, Fifth finger ... OMIM:257850
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... OMIM:606895
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pyoderma gangrenosum, Acute lymphoblastic ... ORPHA:486
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Brachydactyly, Micrognathia, Hypoplasia of the maxilla, Hyperextensibi... OMIM:601812
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Aplastic clavicle, Micrognathia, Hypoplasia of the maxilla, High, narrow... ORPHA:2554
Gm1-Gangliosidosis, Type I
Thickened ribs, Short neck, Kyphosis, Gingival overgrowth, Hypoplastic vertebral bodies, Scoliosi... OMIM:230500
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Joint swelling, Fused cervical vertebrae, Flaring of rib cage, Stomatitis, Broad ribs OMIM:612852
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, H... OMIM:234100
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli... OMIM:300373
Myotubular Myopathy With Abnormal Genital Development
Retrognathia, High palate, Thin ribs OMIM:300219
Hurler Syndrome
Abnormal clavicle morphology, Short stature, Camptodactyly of finger, Short neck, Abnormality of ... ORPHA:93473
Osteogenesis Imperfecta
Abnormality of dental color, Cervical kyphosis, Micrognathia, Abnormal tibia morphology, Osteoart... ORPHA:666
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Denta... OMIM:615560
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Acral ulc... OMIM:162400
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Thin upper lip vermilion, Delayed closure of the anterior fontanelle, ... OMIM:607812
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Fla... ORPHA:79255
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Erythema, Skin ulcer, Ridged fing... ORPHA:37
Calvarial Doughnut Lesions With Bone Fragility
Carious teeth, Platyspondyly, Scoliosis, Femoral bowing OMIM:126550
Camptodactyly Syndrome, Guadalajara Type 3
Short neck, Abnormal rib morphology, Small hand, Retrognathia, Short foot, Spina bifida occulta, ... ORPHA:488434
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Bell-shaped thorax, Horizontal ribs, Micrognathia OMIM:614857
Short-Rib Thoracic Dysplasia 12
Natal tooth, Hypoplastic scapulae, Median cleft lip, Median cleft lip and palate, Hamartoma of to... OMIM:269860
Lethal Congenital Contracture Syndrome 5
Thin ribs OMIM:615368
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d... ORPHA:2907
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial hand polydactyly, Sup... OMIM:617088
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, High palate, Apla... OMIM:276820
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Wide cranial sutures, Dental crowding, Limited elbow movement, Micrognathia, D... OMIM:614008
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Hypoplasia of the maxilla, Spinal canal stenosis, Narrow palate, Scoliosis,... OMIM:277600
Pyoderma Gangrenosum
Skin vesicle, Skin ulcer ORPHA:48104
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee... OMIM:151050
Hypophosphatemic Rickets, Autosomal Recessive, 2
Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Genu varum OMIM:613312
Incontinentia Pigmenti
Finger syndactyly, Short stature, Camptodactyly of finger, Erythema, Absent hand, Skin ulcer, Dev... ORPHA:464
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Arachnodactyly, Pectus excavatum, Thin metatarsal cortices, Thin ribs, Slender long bone, Broad p... ORPHA:2463
Polyarteritis Nodosa
Erythema, Skin ulcer ORPHA:767
Vacterl/Vater Association
Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial hand polydactyly, Abnormal s... ORPHA:887
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Short neck, Micrognathia, Hypoplasia of the ma... ORPHA:96334
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia, Abnormal hair morphology, Paronychia, Skin ulcer, Skin vesicle, Dystrophic fingernails ORPHA:2314
Narcolepsy 7
Narcolepsy OMIM:614250
Attenuated Chédiak-Higashi Syndrome
Skin ulcer ORPHA:352723
Hyperparathyroidism, Transient Neonatal
Wide cranial sutures, Short femur, Metaphyseal spurs, Undulate ribs, Thin ribs, Femoral bowing, S... OMIM:618188
Papa Syndrome
Arthritis, Skin ulcer ORPHA:69126
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Abnormal fingernail morphology, Skin ulcer, Fine hair ORPHA:1806
Infantile Systemic Hyalinosis
Severe short stature, Camptodactyly of finger, Short neck, Skin ulcer, Growth delay, Short palm, ... ORPHA:2176
Werner Syndrome
Short stature, Rocker bottom foot, Abnormal thorax morphology, Small hand, Lack of skin elasticit... ORPHA:902
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity, Skin ulcer OMIM:613640
Severe Congenital Nemaline Myopathy
Abnormal thorax morphology, Adducted thumb, Thin ribs ORPHA:171430
Takayasu Arteritis
Arthritis, Skin ulcer ORPHA:3287
Acute Radiation Syndrome
Skin ulcer, Scaling skin, Granulocytopenia, Lymphopenia, Thrombocytopenia ORPHA:454831
Squamous Cell Carcinoma Of The Anal Canal
Skin ulcer ORPHA:424019
Craniorachischisis
Bifid sternum ORPHA:63260
Calciphylaxis
Skin ulcer ORPHA:280062
Hereditary Spherocytosis
Ataxia, Skin ulcer, Gout, Growth delay, Pallor ORPHA:822
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Thick lowe... OMIM:252940
Aspergillosis
Abnormal long bone morphology, Sinusitis, Abnormality of the vertebral column, Abnormal rib morph... ORPHA:1163
Kagami-Ogata Syndrome
Pursed lips, Kyphoscoliosis, Short neck, Coxa valga, Micrognathia, Bell-shaped thorax, Broad phil... ORPHA:254519
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... ORPHA:2751
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Spastic gait, Acral ulceration, Decreased amplitude of... OMIM:256840
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Short neck, Micrognathia, Humeroradial synostosis, Abnormal rib ... ORPHA:3404
Cryoglobulinemic Vasculitis
Arthritis, Petechiae, Skin ulcer, Purpura ORPHA:91138
Hajdu-Cheney Syndrome
Coarse metaphyseal trabecularization, Brachydactyly, Short stature, Bowing of the long bones, Sho... ORPHA:955
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Micrognathia, Cleft lip, Cleft palate, Posterior rib fusion, Retrognathia, Butterfly vertebrae OMIM:265380
Scarf Syndrome
Barrel-shaped chest, Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Cutis l... OMIM:312830
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Pectus carinatum, High palate, Wi... OMIM:303600
Dyskeratosis Congenita
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Abnormality of neutrophils... ORPHA:1775
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Short stature, Optic neuropathy, Increased intervertebral space, Broad isc... OMIM:619727
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
Weill-Marchesani Syndrome 2
Short metacarpal, Lumbar hyperlordosis, Short stature, Striae distensae, Proportionate short stat... OMIM:608328
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
High, narrow palate, Femoral bowing, Narrow chest, Abnormality of the wrist, Abnormal vertebral m... ORPHA:95699
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, A... ORPHA:534
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Premature loss of ... ORPHA:2908
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Postnatal g... OMIM:269150
Chronic Mucocutaneous Candidiasis
Abnormal fingernail morphology, Erythema, Broad nail, Skin ulcer, Abnormal toenail morphology, Ab... ORPHA:1334
Monosomy 9P
Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Micrognathia, Postaxial... ORPHA:261112
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Craniosynostosis, Tremor, Abnormal rib morphology, Growth delay, Narrow... ORPHA:667
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Short neck, Micrognathia, Abnormal form of the vertebral bodies, Adv... ORPHA:818
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Osteolytic defects of the phalanges of the hand, Foot acroos... OMIM:201300
Myhre Syndrome
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w... OMIM:139210
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... ORPHA:35689
Autosomal Dominant Centronuclear Myopathy
Thin ribs ORPHA:169189
Cerebrocostomandibular Syndrome
Micrognathia, Kyphosis, Posterior rib gap, Cleft palate, Bell-shaped thorax, Glossoptosis, Clinod... ORPHA:1393
Branchioskeletogenital Syndrome
Mandibular prognathia, Short neck, Upper limb peromelia, Hypoplasia of the maxilla, Downturned co... ORPHA:1299
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Skin ulcer OMIM:245660
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Tapered finger, Hyperlordosis, Cleft lip, Limited elbow extension, Hip dislocation, Cleft palate,... OMIM:301066
Blau Syndrome
Camptodactyly of finger, Synovitis, Skin ulcer, Arthritis, Joint swelling, Flexion contracture of... OMIM:186580
Neutrophilic Dermatosis, Acute Febrile
Erythema, Pyoderma gangrenosum OMIM:608068
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Diffuse Cutaneous Systemic Sclerosis
Arthritis, Narrow foramen obturatorium, Skin ulcer ORPHA:220393
Chime Syndrome
Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Erythema, Cl... ORPHA:3474
Dextrocardia
Congenital hip dislocation, Abnormal rib morphology ORPHA:1666
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Congenital hip dislocation, Short neck, High, narrow palate, Vertebral seg... ORPHA:373
Acquired Purpura Fulminans
Pyoderma gangrenosum, Thrombocytopenia, Macular purpura ORPHA:49566
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Pseudo-Torch Syndrome 2
Thin ribs OMIM:617397
Waardenburg Syndrome, Type 1
Mandibular prognathia, Orofacial cleft, Supernumerary ribs, Supernumerary vertebrae, Sprengel ano... OMIM:193500
Cranioectodermal Dysplasia 2
Short neck, Micrognathia, Fused teeth, High palate, Narrow chest, Widely spaced teeth, Microdonti... OMIM:613610
Mandibuloacral Dysplasia Progeroid Syndrome
Sandal gap, Delayed cranial suture closure, Decreased fibular diameter, Pectus excavatum, Microgn... OMIM:619127
Giant Cell Arteritis
Arthritis, Skin ulcer, Optic atrophy, Ataxia ORPHA:397
Livedoid Vasculopathy
Enlargement of the ankles, Abnormality of the peripheral nervous system, Skin ulcer, Macular purp... ORPHA:542643
Trisomy 18
Microretrognathia, Camptodactyly of finger, Postaxial hand polydactyly, Non-midline cleft lip, Ab... ORPHA:3380
Reynolds Syndrome
Arthritis, Skin ulcer ORPHA:779
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Papilledema, Broad-based gait, Pectus excavatum, Limb ataxia, Skin ulcer, Growth d... ORPHA:2072
Chronic Granulomatous Disease
Splenomegaly, Liver abscess, Skin ulcer, Abnormality of neutrophils ORPHA:379
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short neck, Short metatarsal, Femoral bowing, Tibial bowing, Narrow c... OMIM:304120
Vater/Vacterl Association
Syndactyly, Postnatal growth retardation, Short thumb, Absent radius, Hypoplasia of the radius, A... OMIM:192350
Alpha-Mannosidosis, Infantile Form
Mandibular prognathia, Thickened ribs, Craniosynostosis, Short neck, Pectus excavatum, Pectus car... ORPHA:309282
Fusariosis
Brain abscess, Lung abscess, Abnormality of the spleen, Paronychia, Skin ulcer, Granuloma, Neutro... ORPHA:228119
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Hi... ORPHA:3472
Fetal Akinesia Deformation Sequence 1
Hip contracture, Rocker bottom foot, Camptodactyly of finger, Short neck, Micrognathia, High, nar... OMIM:208150
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology ORPHA:52430
Microscopic Polyangiitis
Arthritis, Erythema, Skin ulcer ORPHA:727
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Ataxia, Avascular necrosis of the capital femoral epiphysis, Abnorm... ORPHA:581
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Petechiae, Microcytic anemia, Thrombocytopenia,... ORPHA:906
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Short neck, Micrognathia, Abnormality of the gingiva, Tibial bowing... ORPHA:798
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Joint dislocation, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Kyphoscoliosi... OMIM:225400
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Pyoderma gangrenosum, Chronic lymphatic leuke... ORPHA:3243
Osteopetrosis With Renal Tubular Acidosis
Micrognathia, Pectus excavatum, Persistence of primary teeth, Abnormality of the dentition, Thick... ORPHA:2785
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Skin ulcer, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:464343
Fryns Syndrome
Microretrognathia, Tented upper lip vermilion, Rocker bottom foot, Proximal placement of thumb, S... OMIM:229850
Parkes Weber Syndrome
Myelopathy, Skin ulcer, Dural ectasia, Spinal arteriovenous malformation, Scaling skin, Conus ter... ORPHA:90307
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Femur fracture, Optic atrophy, Growth delay, Optic nerve compression OMIM:612301
Insensitivity To Pain, Congenital, With Anhidrosis
Acral ulceration, Postural hypotension with compensatory tachycardia, Neuropathic arthropathy, Ab... OMIM:256800
Juvenile Dermatomyositis
Alopecia, Dry skin, Erythema, Skin ulcer ORPHA:93672
Aspartylglucosaminuria
Mandibular prognathia, Abnormal morphology of ulna, Abnormality of the dentition, Carious teeth, ... ORPHA:93
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Leukonychia, Skin ulcer, Sca... ORPHA:2526
Immunoglobulin A Vasculitis
Erythema, Optic atrophy, Skin ulcer, Arthritis, Purpura ORPHA:761
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Splenomegaly, Leukocytosis, Skin ulcer, Hepatosplenomegaly, Leukopenia, Thrombocyto... OMIM:615688
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Arachnodactyly, Overlapping toe, Micrognathia, Contracture of the distal interpha... ORPHA:83617
Leukocyte Adhesion Deficiency, Type I
Leukocytosis, Rectal abscess, Skin ulcer OMIM:116920
Meige Disease
Skin ulcer ORPHA:90186
Atypical Werner Syndrome
Short palm, Short stature, Rocker bottom foot, Abnormal thorax morphology, Lack of skin elasticit... ORPHA:79474
Blau Syndrome
Facial palsy, Camptodactyly of finger, Erythema, Synovitis, Skin ulcer, Joint swelling, Polyartic... ORPHA:90340
Charge Syndrome
Short stature, Facial palsy, Postnatal growth retardation, Abnormal tibia morphology, Abnormal ri... ORPHA:138
Toxic Epidermal Necrolysis
Erythema, Skin ulcer, Anemia, Neutropenia, Thrombocytopenia ORPHA:537
Granulomatosis With Polyangiitis
Granulomatosis, Skin ulcer OMIM:608710
Cushing Disease
Sparse scalp hair, Striae distensae, Leukocytosis, Skin ulcer, Decreased eosinophil count, Ecchym... ORPHA:96253
Pagod Syndrome
Abnormal clavicle morphology, Optic atrophy, Abnormal rib morphology, Short stature ORPHA:991
Wiedemann-Rautenstrauch Syndrome
Short neck, Micrognathia, Downturned corners of mouth, Narrow chest, Genu varum, Long toe, Scolio... OMIM:264090
Primary Sjögren Syndrome
Normocytic anemia, Abnormal spinal cord morphology, Skin ulcer, Dry skin, Leukopenia, Normochromi... ORPHA:289390
Systemic Sclerosis
Abnormal phalangeal joint morphology of the hand, Osteolytic defects of the phalanges of the hand... ORPHA:90291
Restrictive Dermopathy
Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Natal tooth, Camptodactyly of finge... ORPHA:1662
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Synophrys ORPHA:447997
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
Dermatomyositis
Abnormal hair quantity, Abnormal eosinophil morphology, Erythema, Skin ulcer, Dry skin, Abnormali... ORPHA:221
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Diaphyseal thickening, Tempo... ORPHA:217085
Amoebiasis Due To Free-Living Amoebae
Abnormal spinal cord morphology, Granuloma, Increased red blood cell count, Skin ulcer ORPHA:68
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Broad-based gait, Short stature, Ataxia, Growth delay, Acral ulceration, Dystonia, Loss of ambula... OMIM:256810
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Diaphyseal thickening, Tempo... ORPHA:217093
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling OMIM:616393
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Hemi... ORPHA:573278
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy ORPHA:314404
Leprosy
Absent eyebrow, Alopecia, Abnormality of the spleen, Loss of eyelashes, Penetrating foot ulcers, ... ORPHA:548
Monosomy 22Q13.3
Hypoplastic toenails, Hair-pulling, Long eyelashes, Thick eyebrow ORPHA:48652
Alagille Syndrome 1
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch, Short d... OMIM:118450
Adenocarcinoma Of The Anal Canal
Skin ulcer ORPHA:424016
Townes-Brocks Syndrome
Broad hallux phalanx, Toe clinodactyly, Toe syndactyly, Short stature, Preaxial hand polydactyly,... ORPHA:857
Granulomatosis With Polyangiitis
Granulomatosis, Skin ulcer, Purpura ORPHA:900
Chronic Graft Versus Host Disease
Alopecia, Pancytopenia, Erythema, Skin ulcer, Onycholysis, Nail dystrophy, Skin vesicle ORPHA:99921
Malakoplakia
Skin ulcer ORPHA:556
Plague
Unsteady gait, Abnormality of the elbow, Skin ulcer, Arthritis, Dry skin ORPHA:707
Charge Syndrome
Hypoplasia of the ulna, Down-sloping shoulders, Facial palsy, Postnatal growth retardation, Absen... OMIM:214800
Coccidioidomycosis
Abnormal long bone morphology, Arthritis, Abnormality of the vertebral column, Abnormal metacarpa... ORPHA:228123
Simple Cryoglobulinemia
Arthritis, Acral ulceration, Purpura ORPHA:91139
Cushing Syndrome Due To Ectopic Acth Secretion
Sparse scalp hair, Striae distensae, Leukocytosis, Skin ulcer, Decreased eosinophil count, Ecchym... ORPHA:99889
Choreoacanthocytosis
Splenomegaly, Hair-pulling, Abnormal erythrocyte enzyme level, Acanthocytosis ORPHA:2388
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy ORPHA:293987
Niemann-Pick Disease Type C
Narcolepsy ORPHA:646
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Trichiasis, Skin ulcer, Nail dystrophy, Neutropenia, Anonychia, Anemia ORPHA:95455
African Trypanosomiasis
Narcolepsy, Alopecia ORPHA:3385
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling OMIM:620330
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Pyoderma gangrenosum, Nail dystrophy, Abn... ORPHA:2968

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 Hoxb8

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 Hoxb8.

No publications found that use IMPC mice or data for Hoxb8.

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
Hoxb8tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Hoxb8tm456384(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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