| Cryptotia, Familial |
|
Cryptotia, Abnormality of the outer ear |
OMIM:123557 |
| Cranial Nerves, Congenital Paresis Of |
|
Abnormal pinna morphology, Facial palsy |
OMIM:218100 |
| Ear Pits, Posterior Helical |
|
Posterior helix pit |
OMIM:128710 |
| Darwinian Tubercle Of Pinna |
|
Darwin tubercle of helix |
OMIM:124300 |
| Ear Without Helix |
|
Abnormal helix morphology |
OMIM:128800 |
| Question Mark Ears, Isolated |
|
Question mark ear |
OMIM:612798 |
| Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
| Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
| Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... |
OMIM:128980 |
| Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, External ear malformation, Hypoplas... |
ORPHA:3232 |
| Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy |
|
Conductive hearing impairment, External ear malformation, Facial paralysis, Abnormality of the st... |
OMIM:124490 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Rib fusion, Contracture of the proximal interphalangeal ... |
OMIM:609813 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck |
OMIM:608681 |
| Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Conductive Deafness-Malformed External Ear Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:3216 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis, Broad jaw, Thickened calvaria, Hypertelorism, B... |
ORPHA:178377 |
| Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
| Kleeblattschaedel |
|
Proptosis, Cloverleaf skull, Elbow ankylosis, Craniosynostosis |
OMIM:148800 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Dolichocephaly, Micrognathia, Orbital craniosynostosis, Frontal bossing, Hypertelorism |
ORPHA:1538 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... |
OMIM:607778 |
| Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... |
ORPHA:90646 |
| Deafness, X-Linked 2 |
|
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... |
OMIM:304400 |
| Craniorhiny |
|
Turricephaly, Oxycephaly, Craniosynostosis |
OMIM:123050 |
| Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Intervertebral disk calcification, Osteoarthritis of the small joints of the hand, Costal cartila... |
OMIM:118610 |
| Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
| Joubert Syndrome 13 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:614173 |
| Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
|
Proptosis, Abnormal facial shape, Hypoplasia of the maxilla, Craniosynostosis |
OMIM:608432 |
| Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Pectus carinatum... |
OMIM:122600 |
| Aurocephalosyndactyly |
|
Craniosynostosis |
OMIM:109050 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... |
OMIM:613686 |
| Dwarfism With Tall Vertebrae |
|
Coxa vara, Increased vertebral height |
OMIM:126950 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Abnormal antihelix morphology, Large earlobe, Conductive hearing impairment, Malar flattening, Mi... |
ORPHA:79113 |
| Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Hemivertebrae, Unilateral brac... |
OMIM:173800 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... |
OMIM:277300 |
| Trigonocephaly 2 |
|
Metopic synostosis, Hypertelorism, Trigonocephaly |
OMIM:614485 |
| Coxoauricular Syndrome |
|
Hip dislocation, Hearing impairment, Microtia |
OMIM:122780 |
| Scheuermann Disease |
|
Kyphosis, Osteochondrosis, Morbus Scheuermann |
OMIM:181440 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormality of the neck, Upper limb phocomelia, Abnormal hip bone morphology, Abnormality of the ... |
ORPHA:294975 |
| Craniosynostosis, Philadelphia Type |
|
Craniosynostosis |
ORPHA:1527 |
| Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
| Summitt Syndrome |
|
Oxycephaly, Craniosynostosis |
OMIM:272350 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Short metacarpal, Osteoarthritis, Platyspondyly, Synostosis of carpal bones, Micromeli... |
ORPHA:93351 |
| Hydrocephalus, Autosomal Dominant |
|
Sagittal craniosynostosis |
OMIM:123155 |
| Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
| Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
| Craniosynostosis 7 |
|
Craniosynostosis |
OMIM:617439 |
| Craniosynostosis 5, Susceptibility To |
|
Craniosynostosis |
OMIM:615529 |
| Symphalangism, Proximal, 1A |
|
Stapes ankylosis, Conductive hearing impairment, Carpal synostosis, Proximal symphalangism of han... |
OMIM:185800 |
| Cervical Vertebral Dysplasia |
|
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... |
OMIM:118005 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... |
OMIM:601376 |
| Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis |
|
Micrognathia, Sagittal craniosynostosis, Trismus |
OMIM:218450 |
| Craniosynostosis 3 |
|
Dental malocclusion, Sagittal craniosynostosis, Right unicoronal synostosis, Left unicoronal syno... |
OMIM:615314 |
| Ossicular Malformations, Familial |
|
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment |
OMIM:165680 |
| Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
| Hunter-Mcalpine Craniosynostosis Syndrome |
|
Downturned corners of mouth, Narrow mouth, Craniosynostosis |
OMIM:601379 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing impairment, Fused cervical vert... |
OMIM:184460 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib ... |
ORPHA:3268 |
| Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma |
|
Microtia |
OMIM:611863 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Platyspo... |
OMIM:617719 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... |
OMIM:616515 |
| Hypophosphatasia, Childhood |
|
Craniosynostosis, Dolichocephaly, Premature loss of primary teeth, Carious teeth, Frontal bossing... |
OMIM:241510 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Coxa vara, Metaphyseal irregularity, Scoliosis, Genu varum, Short femoral neck, Pectus carinatum,... |
OMIM:184255 |
| Microcephaly 6, Primary, Autosomal Recessive |
|
Microcephaly, Microtia |
OMIM:608393 |
| Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Craniosynostosis, Proptosis, Hypertelorism, Brachycephaly, Midface retrusion |
OMIM:612247 |
| Liebenberg Syndrome |
|
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... |
OMIM:186550 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... |
OMIM:127300 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Craniosynostosis, Micrognathia, Abnormality of the dentition, Scaphocephaly, Hypertelorism, Trigo... |
OMIM:616901 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate, Craniosynostosis |
OMIM:600252 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Narrow mouth, Cleft palate, Coronal craniosynostosis, Micrognathia, Genu valgum, Short nose, Prop... |
OMIM:614078 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Short neck, Scoliosis, Posterior rib fusion, Spina bifida occulta,... |
ORPHA:1797 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
High palate, Hypotelorism, Premature posterior fontanelle closure, Small anterior fontanelle, Sag... |
OMIM:314320 |
| Spondylometaphyseal Dysplasia, East African Type |
|
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... |
OMIM:611702 |
| Craniosynostosis 2 |
|
Hypotelorism, Supernumerary tooth, Craniosynostosis, Brachyturricephaly, Frontal bossing, Bicoron... |
OMIM:604757 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... |
OMIM:102510 |
| Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
| Delayed Membranous Cranial Ossification |
|
Prominent occiput, Frontal bossing, Hypertelorism, Midface retrusion, Decreased skull ossification |
ORPHA:3034 |
| Brachydactyly, Type C |
|
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... |
OMIM:113100 |
| Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... |
OMIM:186000 |
| Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, Sagittal craniosynostosis |
OMIM:185900 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Brachydactyly, Abnormality of the ankles, Bilateral single transverse palmar creases, Scoliosis, ... |
ORPHA:968 |
| Treacher Collins Syndrome 3 |
|
Conductive hearing impairment, Malar flattening, Microtia, Micrognathia, Abnormality of the outer... |
OMIM:248390 |
| Craniosynostosis 1 |
|
Oxycephaly, Craniosynostosis, Dolichocephaly, Prominent occiput, Frontal bossing, Sagittal cranio... |
OMIM:123100 |
| Symphalangism, Distal |
|
Distal symphalangism of hands, Distal foot symphalangism, Craniosynostosis |
OMIM:185700 |
| Radial Hemimelia |
|
Abnormality of the scaphoid, Abnormality of the trapezium, Deviation of the hand or of fingers of... |
ORPHA:93321 |
| Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Conductive hearing impairment, Microtia, Micrognathia, Microcephaly, Joint contracture of the 5th... |
OMIM:248910 |
| Acromesomelic Dysplasia 2A |
|
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... |
OMIM:200700 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
High palate, Hypotelorism, Premature posterior fontanelle closure, Metopic suture patent to nasal... |
ORPHA:3369 |
| Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome |
|
Craniosynostosis |
ORPHA:2866 |
| Brachyolmia, Maroteaux Type |
|
Pectus excavatum, Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies, Short thorax |
ORPHA:93302 |
| Maxillonasal Dysplasia, Binder Type |
|
Large earlobe, Depressed nasal bridge, Short nose, Short columella |
OMIM:155050 |
| Primary Basilar Invagination |
|
Abnormal vertebral morphology, Short neck, Abnormality of the cervical spine |
ORPHA:2285 |
| Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
| Femoral-Facial Syndrome |
|
Vertebral segmentation defect, Rib fusion, Coxa vara, Sprengel anomaly, Aplasia/Hypoplasia of the... |
ORPHA:1988 |
| Polydactyly, Preaxial Ii |
|
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... |
OMIM:174500 |
| Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
| Chromosome 1Q21.1 Duplication Syndrome |
|
Frontal bossing, Hypertelorism |
OMIM:612475 |
| Santos Syndrome |
|
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Brachydactyly, Syndactyly, Poly... |
OMIM:613005 |
| Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Micrognathia, Abn... |
ORPHA:3104 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Abnormal oral cavity morphology, Craniosynostosis, Dolichocephaly, Micrognathia, Facial asymmetry... |
ORPHA:1516 |
| Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
| Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
| Brachydactyly-Syndactyly Syndrome |
|
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... |
OMIM:610713 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... |
OMIM:609052 |
| Becker Nevus Syndrome |
|
Rib fusion, Kyphosis, Pectus excavatum, Micromelia, Scoliosis, Abnormality of tibia morphology, S... |
ORPHA:64755 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Micro... |
OMIM:618500 |
| Membranous Cranial Ossification, Delayed |
|
Frontal bossing, Hypertelorism |
OMIM:155980 |
| Craniosynostosis, Adelaide Type |
|
Carpal bone malsegmentation, Craniosynostosis |
OMIM:600593 |
| Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
| Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Kyphoscoliosis, Platyspondyly, Short thorax, Abnormal metaphysis morp... |
ORPHA:93304 |
| Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Oral cleft, Craniosynostosis |
OMIM:218650 |
| Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed epiphyseal ossification, Clinodactyly of the 5th finger, Delayed ossification of carpal b... |
OMIM:182255 |
| Branchiootic Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Micrognathia, Facial palsy, Atre... |
ORPHA:52429 |
| Microtia, Hearing Impairment, And Cleft Palate |
|
Microtia, Overfolded helix, Stenosis of the external auditory canal, Mixed hearing impairment, In... |
OMIM:612290 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Platyspondyly, G... |
OMIM:617974 |
| Craniosynostosis With Anomalies Of The Cranial Base And Digits |
|
Craniosynostosis |
OMIM:218530 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Platyspondyly, Abnormality of the ankles, Abnormal ilium morphology, Abnormal vertebral morpholog... |
ORPHA:163665 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Distal ulnar epiphyseal stippl... |
OMIM:609616 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... |
ORPHA:1836 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Anteverted nares, Short nose, Low-set, posteriorly rotated ears |
ORPHA:2015 |
| Meier-Gorlin Syndrome 8 |
|
Micrognathia, Low-set ears, Microcephaly, Microtia |
OMIM:617564 |
| Langer Mesomelic Dysplasia |
|
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognat... |
OMIM:249700 |
| Prognathism, Mandibular |
|
Mandibular prognathia, Thick lower lip vermilion, Craniosynostosis |
OMIM:176700 |
| X-Linked Intellectual Disability, Stoll Type |
|
Frontal bossing, Hypertelorism, Long philtrum, Malar flattening |
ORPHA:85326 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Plagiocephaly, Hypertelorism, Unilambdoid synostosis, Micrognathia, Long philtrum, Ulnar deviatio... |
OMIM:618577 |
| Atresia Of External Auditory Canal And Conductive Deafness |
|
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... |
OMIM:108760 |
| Acromesomelic Dysplasia, Grebe Type |
|
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Synostosis of... |
ORPHA:2098 |
| Cenani-Lenz Syndrome |
|
Finger syndactyly, Hypoplasia of the radius, Micromelia, Synostosis of carpal bones, Short thumb,... |
ORPHA:3258 |
| Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
| Craniosynostosis 4 |
|
Pansynostosis, Malar flattening, Coronal craniosynostosis, Retrognathia, Sagittal craniosynostosi... |
OMIM:600775 |
| Syndactyly, Type Iv |
|
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... |
OMIM:186200 |
| Cranioectodermal Dysplasia |
|
Taurodontia, Hypotelorism, Hypodontia, Craniosynostosis, Dolichocephaly, Abnormality of the denti... |
ORPHA:1515 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... |
ORPHA:1891 |
| Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... |
ORPHA:93323 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Absent distal... |
ORPHA:3246 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Conductive hearing impairment, Atresia of the external auditor... |
ORPHA:3236 |
| 3-Hydroxyisobutyric Aciduria |
|
Micrognathia, Microcephaly, Microtia |
ORPHA:939 |
| Crossed Polysyndactyly |
|
Hearing abnormality, Postaxial hand polydactyly, Abnormality of the outer ear, Abnormality of the... |
ORPHA:2935 |
| Treacher Collins Syndrome 2 |
|
Conductive hearing impairment, Choanal stenosis, Choanal atresia, Microtia |
OMIM:613717 |
| Syndactyly, Type Iii |
|
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly |
OMIM:186100 |
| Adducted Thumbs Syndrome |
|
High palate, Velopharyngeal insufficiency, High, narrow palate, Cleft palate, Craniosynostosis, A... |
OMIM:201550 |
| Branchiogenic-Deafness Syndrome |
|
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Branchial fistula, Mixe... |
OMIM:609166 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Kyphosis, Rib fusion, Abnormal intervertebral disk morphology, Cam... |
ORPHA:2311 |
| Langer Mesomelic Dysplasia |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... |
ORPHA:2632 |
| Au-Kline Syndrome |
|
High palate, Overlapping toe, Cleft palate, Microtia, Thickened nuchal skin fold, Deep palmar cre... |
OMIM:616580 |
| Syndactyly Type 1 |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly |
ORPHA:93402 |
| Trigonocephaly 1 |
|
Hypotelorism, Trigonocephaly, Craniosynostosis |
OMIM:190440 |
| Orofaciodigital Syndrome Vi |
|
High palate, Conductive hearing impairment, Cleft upper lip, Accessory oral frenulum, Mesoaxial h... |
OMIM:277170 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Irregular vertebral endplates, Advanced ossification of carpal bones, Kyphoscoliosis, Microretrog... |
OMIM:618363 |
| Orofaciodigital Syndrome Type 10 |
|
Hypoplasia of proximal radius, Short toe, Mesomelic leg shortening, Preaxial polydactyly, Short t... |
ORPHA:2756 |
| Otosclerosis 1 |
|
Otosclerosis, Conductive hearing impairment |
OMIM:166800 |
| Otosclerosis 7 |
|
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... |
OMIM:611572 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platy... |
OMIM:184252 |
| Holt-Oram Syndrome |
|
Aplasia of the ulna, Short clavicles, Thoracic scoliosis, Pectus excavatum, Absent thumb, Hypopla... |
OMIM:142900 |
| Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Narrow chest, Metaphyseal cupping, Platyspondyly, Micromelia, Hyp... |
ORPHA:85166 |
| Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... |
OMIM:602588 |
| Pterygium Colli, Isolated |
|
Protruding ear, Short nose |
OMIM:177990 |
| Ring Chromosome 8 Syndrome |
|
Anteverted nares, Short nose, Round ear |
ORPHA:1450 |
| Winchester Syndrome |
|
Broad metacarpals, Kyphosis, Carpal osteolysis, Arthropathy, Osteolysis involving tarsal bones |
OMIM:277950 |
| 6Q16 Microdeletion Syndrome |
|
Macrocephaly, Microtia, Retrognathia, Micrognathia, Abnormal ear morphology, Low-set ears |
ORPHA:171829 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Macrocephaly, Microtia |
OMIM:612138 |
| Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Postnatal macrocephaly, Microtia |
OMIM:618158 |
| Multiple Synostoses Syndrome 1 |
|
Short sternum, Clinodactyly of the 4th toe, Short philtrum, Bilateral conductive hearing impairme... |
OMIM:186500 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Enlarged joints, Delayed epiphyseal ossification, Pectus excavatum, Spindle-shaped finger, Cutane... |
ORPHA:166024 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
High palate, Recurrent fractures, Persistence of primary teeth, Craniosynostosis, Osteopenia, Coa... |
OMIM:147060 |
| Postaxial Tetramelic Oligodactyly |
|
Abnormal metacarpal morphology, Abnormality of finger, Oligodactyly, Ectrodactyly |
ORPHA:2730 |
| Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Kyphosis, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shorteni... |
ORPHA:1354 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Brachydactyly, Kyphosis, Delayed ossification of carpal bones, Pectus carinatum |
OMIM:618392 |
| Sprengel Deformity |
|
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... |
OMIM:184400 |
| Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Short mandibular rami, Microtia, Delayed eruption of teeth, Horner syndrome |
OMIM:141300 |
| Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
| Summitt Syndrome |
|
Plagiocephaly, Craniosynostosis, Narrow face, Prominent metopic ridge, Camptodactyly of finger, G... |
ORPHA:3210 |
| Tibial Hemimelia |
|
Radial club hand, Hemivertebrae, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallu... |
ORPHA:93322 |
| Branchiogenic Deafness Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:50815 |
| Auriculocondylar Syndrome 3 |
|
Glossoptosis, Stenosis of the external auditory canal, Retrognathia, Micrognathia, Bilateral cond... |
OMIM:615706 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... |
OMIM:271650 |
| Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Accessory oral frenulum, Postaxial polydactyly, Preaxial polydact... |
OMIM:617927 |
| Dyggve-Melchior-Clausen Disease |
|
Broad carpal bones, Short neck, Platyspondyly, Abnormal femoral head morphology, Hypoplasia of th... |
ORPHA:239 |
| Hemifacial Microsomia With Radial Defects |
|
Atresia of the external auditory canal, Conductive hearing impairment, Short mandibular rami, Mic... |
OMIM:141400 |
| Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... |
OMIM:185750 |
| Auriculocondylar Syndrome 2 |
|
Cleft at the superior portion of the pinna, Dental malocclusion, Narrow mouth, Abnormal pinna mor... |
OMIM:614669 |
| Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Limited pronation/supina... |
ORPHA:3269 |
| Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Cholesteatoma |
OMIM:614113 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Micrognathia, Microtia |
OMIM:300946 |
| Epiphyseal Dysplasia, Multiple, 6 |
|
Irregular vertebral endplates, Intervertebral disk calcification, Flat capital femoral epiphysis,... |
OMIM:614135 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Abnormal pinna morphology, Macrocephaly, Microretrognathia, Microtia, Low-set ears, Aganglionic m... |
OMIM:613603 |
| Catifa Syndrome |
|
Tooth malposition, Cleft palate, Microtia, Long philtrum, Delayed eruption of teeth, Cleft lip, I... |
OMIM:618761 |
| Wilson-Turner Syndrome |
|
Micrognathia, Malar prominence, Microtia |
ORPHA:3459 |
| Galactosialidosis |
|
Abnormal vertebral morphology, Abnormality of the vertebral column |
ORPHA:351 |
| Acrocephalopolysyndactyly Type Iv |
|
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... |
OMIM:201020 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Kyphoscoliosis, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... |
OMIM:600384 |
| Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Narrow chest, Talipes equinovarus, Craniosynostosis, Short tibia, Abnormalit... |
OMIM:251230 |
| Bor Syndrome |
|
Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, Retrognathia, Fa... |
ORPHA:107 |
| Acrocephalopolydactyly |
|
Short nose, Depressed nasal ridge, Microtia |
ORPHA:221054 |
| Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... |
OMIM:223800 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Abnormal thorax morphology |
ORPHA:85203 |
| Humeroradial Synostosis |
|
Small earlobe, Wide nasal bridge, Microtia |
OMIM:236400 |
| Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... |
ORPHA:240 |
| Symbrachydactyly Of Hands And Feet |
|
Vertebral segmentation defect, Abnormality of the humeroulnar joint, Abnormal morphology of ulna,... |
ORPHA:1570 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Irregular vertebral endplates, Lumbar hyperlordosis, Flat capital femoral epiphysis, Platyspondyl... |
OMIM:609223 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... |
OMIM:603546 |
| Cole-Carpenter Syndrome 2 |
|
High palate, Dentinogenesis imperfecta, Microretrognathia, Coronal craniosynostosis, Osteopenia, ... |
OMIM:616294 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... |
ORPHA:174 |
| Disorganization, Mouse, Homolog Of |
|
Sensorineural hearing impairment, Cleft upper lip, Cleft palate, Sacral meningocele, Limb duplica... |
OMIM:223200 |
| Earring Holes, Natural |
|
Congenital earlobe sinuses |
OMIM:129000 |
| Gordon Syndrome |
|
Clinodactyly of the 5th finger, Pectus excavatum, Camptodactyly of finger, Scoliosis, Talipes, Fi... |
ORPHA:376 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis |
OMIM:616566 |
| Mosaic Trisomy 14 |
|
High palate, Wide mouth, Ectopic anus, Cleft palate, Microtia, Micrognathia, Short neck, Low-set,... |
ORPHA:1703 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Anteverted nares, Depressed nasal bridge, Low-set ears, Short nose |
OMIM:614069 |
| Renal, Genital, And Middle Ear Anomalies |
|
Abnormality of the middle ear ossicles, Hearing impairment |
OMIM:267400 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... |
OMIM:618395 |
| Oculoauriculofrontonasal Syndrome |
|
Conductive hearing impairment, Narrow mouth, Cleft palate, Microtia, Encephalocele, Micrognathia,... |
ORPHA:398156 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Humeroradial synostosis, Brachycephaly, Craniosynostosis |
OMIM:614416 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Vertebral hyperostosis |
OMIM:106400 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Brachycephaly, Malar flattening, Craniosynostosis, Cleft palate, Micrognathia, Short nose, Hypert... |
ORPHA:2145 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Sprengel anomaly, Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebra... |
ORPHA:40 |
| Short Stature-Obesity Syndrome |
|
Prominent nasal bridge, Narrow nose, Microtia |
OMIM:269870 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly |
OMIM:234280 |
| Cole-Carpenter Syndrome 1 |
|
Recurrent fractures, Coronal craniosynostosis, Osteopenia, Micrognathia, Shallow orbits, Orbital ... |
OMIM:112240 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Premature osteoarthritis... |
ORPHA:93314 |
| Metatropic Dysplasia |
|
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... |
OMIM:156530 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Ectrodactyly, Talipes equinovarus, Brachydactyly, Oligodactyly, Split hand |
OMIM:612576 |
| Branchiootorenal Syndrome 1 |
|
High palate, Sensorineural hearing impairment, Conductive hearing impairment, Cleft palate, Micro... |
OMIM:113650 |
| Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Atresia of the external auditory canal, Conductive hearing impairment, Microcephaly, Microtia |
ORPHA:2213 |
| Kyphomelic Dysplasia |
|
Narrow chest, Undulate ribs, Micrognathia, Anterior rib cupping, Micromelia, Abnormal form of the... |
ORPHA:1801 |
| Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Short greater sciatic notch, Anterior beaking of lumbar vertebrae, Platyspondyly, Coxa valga |
OMIM:271620 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... |
ORPHA:2549 |
| Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Craniosynostosis |
OMIM:225755 |
| 20P12.3 Microdeletion Syndrome |
|
Macrocephaly, Malar flattening, Microtia, Hypoplasia of the maxilla, Thickened helices |
ORPHA:261295 |
| Coxoauricular Syndrome |
|
Atresia of the external auditory canal, Hip dislocation, Hearing impairment, Microtia |
ORPHA:1508 |
| Developmental And Epileptic Encephalopathy 80 |
|
High palate, Wide mouth, Abnormal pinna morphology, Uplifted earlobe, Overfolded helix, Micrognat... |
OMIM:618580 |
| Jackson-Weiss Syndrome |
|
Calcaneonavicular fusion, Midface retrusion, Malar flattening, Craniosynostosis |
OMIM:123150 |
| Jawad Syndrome |
|
Thoracic scoliosis, Postaxial polydactyly, Single interphalangeal crease of fifth finger, Absent ... |
OMIM:251255 |
| Maxillofacial Dysostosis |
|
Abnormal pinna morphology |
OMIM:155000 |
| Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Fragmented epiphyses, Slender finger, Platyspondyly, Genu valgum, Abnormality of the curvature of... |
ORPHA:93360 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Alveolar ridge overgrowth, Sensorineural hearing impairment, Hydrocephalus, Cleft palate, Thin ve... |
OMIM:612938 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Stapes ankylosis, Microcephaly, Radioulnar synostosis, Enamel agenesis, Low-set ears |
OMIM:614701 |
| Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Sclerotic v... |
ORPHA:2790 |
| Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Scoli... |
OMIM:618167 |
| Chromosome 16P11.2 Deletion Syndrome, 593-Kb |
|
Micrognathia, Hypertelorism, Midface retrusion |
OMIM:611913 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Platyspondyly, Hip osteoarthritis, Sc... |
OMIM:604864 |
| Schneckenbecken Dysplasia |
|
Short neck, Platyspondyly, Ovoid vertebral bodies, Umbilical hernia, Dumbbell-shaped long bone, T... |
OMIM:269250 |
| Isotretinoin Syndrome |
|
Abnormality of the outer ear, Micrognathia, Biparietal narrowing, Microtia |
ORPHA:2305 |
| Mandibulofacial Dysostosis With Alopecia |
|
Conductive hearing impairment, Protruding ear, Cleft palate, Everted lower lip vermilion, Glossop... |
OMIM:616367 |
| Adenylosuccinate Lyase Deficiency |
|
Anteverted nares, Low-set ears, Short nose |
ORPHA:46 |
| Gms Syndrome |
|
Depressed nasal bridge, Low-set ears, Short nose, Microtia |
OMIM:138770 |
| Zechi-Ceide Syndrome |
|
Conductive hearing impairment, Abnormal helix morphology, Cleft palate, Microtia, Thin vermilion ... |
ORPHA:217017 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Coxa vara, Short palm, Platyspondyly, Flared, irregular rib ends |
ORPHA:168555 |
| Thoracolaryngopelvic Dysplasia |
|
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Metaphyseal widenin... |
OMIM:187760 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Talipes equinovarus, Short tibia, Micrognathia, 11 pairs of ribs, Single transve... |
OMIM:201170 |
| Parietal Foramina With Cleidocranial Dysplasia |
|
Macrocephaly, Widely patent fontanelles and sutures, Microtia |
OMIM:168550 |
| Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Plagiocephaly, Cleft palate, Craniosynostosis, Micrognathia, Arthrogryposis multiplex congenita, ... |
OMIM:618265 |
| Smith-Magenis Syndrome |
|
EEG abnormality, Malar flattening, Morphological abnormality of the middle ear, Abnormality of th... |
OMIM:182290 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration |
OMIM:258700 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Postaxial polydactyly, Broad distal phalanx of finger, Long philtrum, Scoliosis, Hyperl... |
OMIM:615761 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
| Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromelia, Delayed eruption o... |
OMIM:184260 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Abnormality of the hand, Syndactyly, Foot oligodac... |
OMIM:246570 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
High palate, Craniosynostosis, Long philtrum, Genu varum, Coarse facial features, Proptosis, Copp... |
OMIM:619451 |
| Axial Spondylometaphyseal Dysplasia |
|
Platyspondyly, Upper limb undergrowth, Flared, irregular rib ends, Thoracic hypoplasia, Narrow gr... |
ORPHA:168549 |
| Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear |
OMIM:618915 |
| Orofaciodigital Syndrome Xi |
|
Kyphoscoliosis, Hypoplasia of the odontoid process, Cleft palate, Postaxial polydactyly |
OMIM:612913 |
| Craniosynostosis 6 |
|
Plagiocephaly, Craniosynostosis, Delayed cranial suture closure, Hypertelorism, Brachycephaly, Tu... |
OMIM:616602 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration |
OMIM:271250 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Short nose, Anteverted nares, Low-set ears, Wide nasal bridge |
OMIM:616430 |
| Trichodentoosseous Syndrome |
|
Taurodontia, Increased bone mineral density, Dolichocephaly, Microdontia, Frontal bossing, Widely... |
OMIM:190320 |
| Greig Cephalopolysyndactyly Syndrome |
|
Frontal bossing, Hypertelorism, Wide nasal bridge, Craniosynostosis |
ORPHA:380 |
| Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Micrognathia, Low-set ears, Malar flattening, Microtia |
ORPHA:357175 |
| Osteoglosphonic Dysplasia |
|
Abnormal bone ossification, Tooth agenesis, Craniosynostosis, Micrognathia, Multiple unerupted te... |
ORPHA:2645 |
| Muenke Syndrome |
|
High palate, Dental malocclusion, Plagiocephaly, Malar flattening, Coronal craniosynostosis, Prop... |
OMIM:602849 |
| Microtia With Meatal Atresia And Conductive Deafness |
|
Conductive hearing impairment, Anotia, Aplasia/Hypoplasia of the middle ear, Microtia |
OMIM:251800 |
| Congenital Disorder Of Glycosylation, Type Iin |
|
Osteopenia, Joint hypermobility, Craniosynostosis |
OMIM:616721 |
| Parenti-Mignot Neurodevelopmental Syndrome |
|
Microtia, Craniosynostosis, Micrognathia, Cupped ear, Low-set ears, Posteriorly rotated ears |
OMIM:619873 |
| Antley-Bixler Syndrome |
|
Recurrent fractures, Joint stiffness, Narrow mouth, Elbow ankylosis, Cleft palate, Craniosynostos... |
ORPHA:83 |
| Cerebrofaciothoracic Dysplasia |
|
Vertebral segmentation defect, Rib fusion, Sprengel anomaly, Narrow chest, Bifid ribs, Hemiverteb... |
ORPHA:1394 |
| Otopalatodigital Syndrome, Type I |
|
Pectus excavatum, Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior... |
OMIM:311300 |
| Multiple Synostoses Syndrome 4 |
|
Otosclerosis, Tarsal synostosis |
OMIM:617898 |
| Postaxial Acrofacial Dysostosis |
|
Conductive hearing impairment, Abnormality of the middle ear, Malar flattening, Microtia, Microgn... |
ORPHA:246 |
| Bent Bone Dysplasia Syndrome 1 |
|
Gingival overgrowth, Malar flattening, Coronal craniosynostosis, Micrognathia, Hypertelorism, Mid... |
OMIM:614592 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
| Meckel Syndrome, Type 10 |
|
Abnormal pinna morphology, Ulnar deviation of the hand, Cleft palate, Postaxial polydactyly, Anen... |
OMIM:614175 |
| Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:949 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hypertelorism, Joint contracture of the hand, Craniosynostosis, Dolichocephaly, Delayed cranial s... |
OMIM:175700 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Irregular vertebral endplates, Epiphyseal dysplasia, Delayed epiphyseal ossification, Irregular e... |
OMIM:132400 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Conductive hearing impairment, Microtia, Micrognathia, Microcephaly, Atresia of the external audi... |
OMIM:239800 |
| Tricho-Dento-Osseous Syndrome |
|
Taurodontia, Increased bone mineral density, Periapical tooth abscess, Dolichocephaly, Microdonti... |
ORPHA:3352 |
| Solitary Bone Cyst |
|
Lytic defects of the radius, Abnormal humeral diaphysis morphology, Back pain, Abnormality of the... |
ORPHA:83468 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis |
ORPHA:88643 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short tibia, Talipes equinovalgus, Abnormal thorax morphology, Mesomelia,... |
OMIM:605274 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Microretrognathia, Microtia, Microcephaly, Camptodactyly of finger, Low-set, posteriorly rotated ... |
ORPHA:2994 |
| Muenke Syndrome |
|
Carpal synostosis, Plagiocephaly, High, narrow palate, Malar flattening, Coronal craniosynostosis... |
ORPHA:53271 |
| Xq21 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Dilatated inte... |
ORPHA:1435 |
| Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Micrognathia, Low-set ears, Malar flattening, Microtia |
OMIM:615162 |
| Thanatophoric Dysplasia, Type Ii |
|
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... |
OMIM:187601 |
| Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Pectus excavatum, Abnormal rib cage morphology, Hemivertebrae, Posterior rib fusion, Preaxial han... |
OMIM:608406 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
High palate, Brachycephaly, Craniosynostosis, Frontal bossing, Thin upper lip vermilion |
ORPHA:314575 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Facial asymmetry, Flat occiput, Bicoronal synostosis, Delayed closure of the anterior fontanelle,... |
OMIM:618736 |
| Short Stature And Facioauriculothoracic Malformations |
|
Cleft upper lip, High palate, Cleft palate, Microtia, Overfolded helix, Cupped ear, Short neck, L... |
OMIM:609654 |
| Syndactyly Type 5 |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... |
ORPHA:93406 |
| Syndactyly Type 3 |
|
Short toe, Finger syndactyly, Camptodactyly of finger |
ORPHA:93404 |
| Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Atresia of the external auditory canal, Conductive hearing impairment, Chronic otitis media |
OMIM:221320 |
| Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Bell-shaped thorax, Short ribs |
OMIM:187750 |
| Auriculocondylar Syndrome |
|
Abnormal pinna morphology, Abnormality of the crus of the helix, Cleft palate, Mandibular condyle... |
ORPHA:137888 |
| Metatropic Dysplasia |
|
Narrow chest, Kyphosis, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Camptodactyly of f... |
ORPHA:2635 |
| Acrorenal Syndrome |
|
Hand oligodactyly |
OMIM:102520 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Widely spaced teeth, Joint hypermobility, Craniosynostosis |
OMIM:618906 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Temporomandibular joint ankylosis, Hypertelorism, High, narrow palate, Dolichocephaly, Micrognath... |
ORPHA:2872 |
| Microtia |
|
Abnormal pinna morphology, Microtia, Anotia, Atresia of the external auditory canal, Hypoplastic ... |
ORPHA:83463 |
| Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... |
OMIM:176240 |
| Frontoocular Syndrome |
|
High palate, Narrow mouth, Hypotelorism, Narrow philtrum, Coronal craniosynostosis, Micrognathia,... |
OMIM:605321 |
| Chromosome 5P13 Duplication Syndrome |
|
High palate, Brachycephaly, Hypotelorism, Craniosynostosis, Short philtrum, Frontal bossing, Prop... |
OMIM:613174 |
| Wahab Syndrome |
|
Adducted thumb, Syndactyly, Camptodactyly, Clinodactyly, Short foot, Short palm, Short metacarpal... |
OMIM:615170 |
| Thoracomelic Dysplasia |
|
Short ribs, Bell-shaped thorax |
OMIM:273740 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... |
OMIM:607078 |
| Gomez-Lopez-Hernandez Syndrome |
|
High palate, Wide anterior fontanel, Malar flattening, Craniosynostosis, Thin vermilion border, W... |
OMIM:601853 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Bil... |
ORPHA:1972 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Brachycephaly, Malar flattening, Craniosynostosis, Thin vermilion border, Micrognathia, Long phil... |
ORPHA:171839 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Irregular vertebral endplates, Irregular tarsal ossification, Cone-shaped epiphyses of the phalan... |
OMIM:226980 |
| Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Dental crowding, Joint contracture of the hand, Macroglossia, Craniosynostosis, Arthropathy, Scap... |
OMIM:618523 |
| Taurodontism, Microdontia, And Dens Invaginatus |
|
Dens in dente, Taurodontia, Microdontia, Pulp calcification |
OMIM:313490 |
| Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Microtia |
ORPHA:139450 |
| Frontal Encephalocele |
|
Hydrocephalus, Spina bifida, Encephalocele |
ORPHA:1931 |
| Crouzon Syndrome |
|
Coronal craniosynostosis, Shallow orbits, Frontal bossing, Sagittal craniosynostosis, Proptosis, ... |
OMIM:123500 |
| Atelosteogenesis Type Iii |
|
Abnormality of the humerus, Hand clenching, Patellar dislocation, Elbow dislocation, Thoracic hyp... |
ORPHA:56305 |
| Oligodontia |
|
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Proptosis, Metacarpal synostosis, Hypertelorism, Brachycephaly, Midface retrusion |
ORPHA:35099 |
| Craniosynostosis With Fibular Aplasia |
|
Craniosynostosis |
OMIM:218550 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed cranial suture closure,... |
OMIM:113000 |
| Ayme-Gripp Syndrome |
|
Narrow mouth, Hypertelorism, Malar flattening, Craniofacial asymmetry, Delayed cranial suture clo... |
OMIM:601088 |
| Johnson Neuroectodermal Syndrome |
|
Conductive hearing impairment, Protruding ear, Microtia, Retrognathia, Microcephaly, Carious teet... |
OMIM:147770 |
| Craniofrontonasal Dysplasia |
|
High palate, Plagiocephaly, Craniosynostosis, Abnormality of the dentition, Camptodactyly of fing... |
ORPHA:1520 |
| Atelosteogenesis, Type Ii |
|
Lacunar halos around chondrocytes, Horizontal sacrum, Short neck, Micromelia, Platyspondyly, Sand... |
OMIM:256050 |
| Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Orofaciodigital Syndrome Iv |
|
High palate, Accessory oral frenulum, Cleft palate, Postaxial polydactyly, Short tibia, Brachydac... |
OMIM:258860 |
| Acrocallosal Syndrome |
|
High palate, Wide mouth, Abnormal pinna morphology, Triangular mouth, Cleft palate, Short philtru... |
OMIM:200990 |
| Basilar Impression, Primary |
|
Craniofacial asymmetry, Platybasia |
OMIM:109500 |
| Craniotelencephalic Dysplasia |
|
Hypotelorism, Craniosynostosis |
OMIM:218670 |
| Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Short nose |
OMIM:218010 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... |
ORPHA:2633 |
| Boomerang Dysplasia |
|
Narrow chest, Abnormality of femur morphology, Abnormal morphology of ulna, Abnormally ossified v... |
ORPHA:1263 |
| Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... |
OMIM:601369 |
| Rhiny |
|
Anteverted nares, Short nose |
OMIM:180360 |
| Crouzon Syndrome |
|
Narrow palate, Frontal bossing, Multiple suture craniosynostosis, Proptosis, Hypoplasia of the ma... |
ORPHA:207 |
| Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... |
ORPHA:166016 |
| Arthrogryposis, Distal, Type 1A |
|
Overlapping toe, Talipes equinovarus, Joint contracture of the hand, Adducted thumb, Congenital h... |
OMIM:108120 |
| Hartsfield Syndrome |
|
Non-midline cleft lip, Hypertelorism, Cleft palate, Craniosynostosis |
ORPHA:2117 |
| Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Retrognathia, Microcephaly, Coronal craniosynostosis, Microtia |
ORPHA:163976 |
| Pierre Robin Syndrome And Oligodactyly |
|
Micrognathia, Hand oligodactyly |
OMIM:172880 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Thin ribs, Micrognathia, Platyspondyly, Metaphyseal cupping of metacarpals, Abnormality of the ca... |
ORPHA:163966 |
| Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Short neck,... |
OMIM:251450 |
| Joubert Syndrome 10 |
|
Thick vermilion border, Deep philtrum, Low-set ears, Postaxial polydactyly |
OMIM:300804 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
| Down Syndrome |
|
Anal atresia, Narrow mouth, Narrow palate, Conductive hearing impairment, Macroglossia, Thickened... |
ORPHA:870 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors |
OMIM:114700 |
| Periventricular Nodular Heterotopia 7 |
|
Gray matter heterotopia, Cleft palate, Periventricular nodular heterotopia, Micrognathia, Optic a... |
OMIM:617201 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
High palate, Wide mouth, Dental crowding, Protruding tongue, Macrotia, Thick vermilion border, Po... |
OMIM:618106 |
| Microphthalmia With Limb Anomalies |
|
Abnormality of the upper limb, Sandal gap, Bowing of the long bones, Short long bone, Elbow dislo... |
ORPHA:1106 |
| Familial Scaphocephaly Syndrome, Mcgillivray Type |
|
High palate, Open bite, Dolichocephaly, Midface retrusion, Mandibular prognathia, Hypertelorism, ... |
ORPHA:168624 |
| Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Malar flattening, Coronal craniosynostosis, Micrognathia, Aglossia, Hypoplasia of th... |
OMIM:241310 |
| Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Lumbar hyperlordosis, Prominent st... |
OMIM:304950 |
| Smith-Mccort Dysplasia 2 |
|
Metaphyseal irregularity, Broad phalanx, Flattened femoral head, Barrel-shaped chest, Platyspondy... |
OMIM:615222 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Vertebral segmentation defect, Cleft palate, Abnormal hip bone morphology, Overfolded helix, Thin... |
ORPHA:2631 |
| Johnson Neuroectodermal Syndrome |
|
Conductive hearing impairment, Protruding ear, Microtia, Microcephaly, Carious teeth, Atresia of ... |
ORPHA:2316 |
| Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
| Macrocephaly-Developmental Delay Syndrome |
|
High palate, Microretrognathia, Craniosynostosis, Frontal bossing, Scaphocephaly, Mandibular prog... |
ORPHA:397612 |
| Split-Hand/Foot Malformation 6 |
|
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly |
OMIM:225300 |
| Fryns Macrocephaly |
|
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... |
OMIM:600302 |
| Acrocraniofacial Dysostosis |
|
Hypotelorism, Cleft palate, Craniosynostosis, Micrognathia, Short philtrum, Proptosis, Natal toot... |
OMIM:201050 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Micrognathia, Camptodactyly of finger, Microtia |
ORPHA:2547 |
| Juberg-Hayward Syndrome |
|
Abnormality of finger, Hypoplasia of the radius, Scoliosis, Radioulnar synostosis, Hammertoe, Abn... |
ORPHA:2319 |
| Catel-Manzke Syndrome |
|
Cleft palate, Glossoptosis, Micrognathia, Chronic otitis media, Low-set, posteriorly rotated ears... |
ORPHA:1388 |
| Smith-Mccort Dysplasia 1 |
|
Metaphyseal irregularity, Multicentric femoral head ossification, Kyphosis, Beaking of vertebral ... |
OMIM:607326 |
| Split-Hand/Foot Malformation 1 |
|
Ectrodactyly, Hand oligodactyly, Split foot, Syndactyly, Broad hallux, Triphalangeal thumb, Clino... |
OMIM:183600 |
| External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome |
|
Atresia of the external auditory canal, Hearing impairment |
ORPHA:3023 |
| Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Scoliosis, Abnormal form of the ... |
ORPHA:1149 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Down-sloping shoulders, Short neck, Ulnar deviation of finger, Umbilical hernia, Rocker bottom fo... |
OMIM:265000 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Sensorineural hearing impairment, Cleft palate, Microtia, Stenosis of the external auditory canal... |
OMIM:606164 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... |
OMIM:617405 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Dentinogenesis imperfecta, Hypertelorism, Dolichocephaly, Wormian bones, Pathologic fracture, Abn... |
ORPHA:166277 |
| Sweeney-Cox Syndrome |
|
High palate, Anal atresia, Narrow mouth, Wide anterior fontanel, Cleft palate, Microtia, Overfold... |
OMIM:617746 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... |
OMIM:608940 |
| Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Coronal craniosynostosis, Lambdoidal craniosynostosis |
OMIM:601370 |
| Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Carpal synostosis, Bilateral conductive hearing impairment, Abnormality of the ankles, Atresia of... |
ORPHA:2010 |
| Syndactyly, Type V |
|
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... |
OMIM:186300 |
| Seckel Syndrome 7 |
|
