| Cryptotia, Familial |
|
Abnormality of the outer ear, Cryptotia |
OMIM:123557 |
| Question Mark Ears, Isolated |
|
Hearing abnormality, Question mark ear |
OMIM:612798 |
| 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 |
| 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 |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... |
OMIM:128980 |
| Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... |
ORPHA:3232 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect |
OMIM:608681 |
| Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Increased bone mineral density, Craniosynostosis, Hypertelorism, Brachycephaly, Thicke... |
ORPHA:178377 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
| Kleeblattschaedel |
|
Cloverleaf skull, Elbow ankylosis, Proptosis, Craniosynostosis |
OMIM:148800 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Frontal bossing, Micrognathia, Hypertelorism, Dolichocephaly, Orbital craniosynostosis |
ORPHA:1538 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
| Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
| Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
| Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
| Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Overfolded helix, Abnormal antihelix morp... |
ORPHA:79113 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Underdeveloped nasal alae, Long nose, Congenital stapes ankylosis, Proximal/mid... |
OMIM:184460 |
| Dwarfism With Tall Vertebrae |
|
Increased vertebral height, Coxa vara |
OMIM:126950 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r... |
OMIM:173800 |
| Scheuermann Disease |
|
Kyphosis, Osteochondrosis, Morbus Scheuermann |
OMIM:181440 |
| Coxoauricular Syndrome |
|
Microtia, Hip dislocation, Hearing impairment |
OMIM:122780 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Abnormal thorax morphology, Upper limb phocomelia, Abnormality of the neck, Abnormali... |
ORPHA:294975 |
| Craniosynostosis, Philadelphia Type |
|
Craniosynostosis |
ORPHA:1527 |
| Aurocephalosyndactyly |
|
Craniosynostosis |
OMIM:109050 |
| Summitt Syndrome |
|
Oxycephaly, Craniosynostosis |
OMIM:272350 |
| Hydrocephalus, Autosomal Dominant |
|
Sagittal craniosynostosis |
OMIM:123155 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal rib... |
ORPHA:93351 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
| Craniosynostosis 7 |
|
Craniosynostosis |
OMIM:617439 |
| Craniosynostosis 5, Susceptibility To |
|
Craniosynostosis |
OMIM:615529 |
| Craniosynostosis 3 |
|
Sagittal craniosynostosis, Dental malocclusion, Left unicoronal synostosis, Right unicoronal syno... |
OMIM:615314 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Hunter-Mcalpine Craniosynostosis Syndrome |
|
Downturned corners of mouth, Craniosynostosis, Narrow mouth |
OMIM:601379 |
| Symphalangism, Proximal, 1A |
|
Carpal synostosis, Stapes ankylosis, Tarsal synostosis, Metacarpophalangeal synostosis, Proximal ... |
OMIM:185800 |
| Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
| Microcephaly 6, Primary, Autosomal Recessive |
|
Bifid nasal tip, Microtia, Microcephaly |
OMIM:608393 |
| Cervical Vertebral Dysplasia |
|
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Abnormal form of the verte... |
ORPHA:750 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... |
ORPHA:3268 |
| Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma |
|
Microtia |
OMIM:611863 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... |
OMIM:616515 |
| Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
| Hypophosphatasia, Childhood |
|
Frontal bossing, Craniosynostosis, Premature loss of primary teeth, Carious teeth, Proptosis, Dol... |
OMIM:241510 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Craniosynostosis, Hypertelorism, Brachycephaly, Proptosis, Midface retrusion |
OMIM:612247 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Vertebra... |
OMIM:617719 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Hypercon... |
OMIM:184255 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Coronal cleft vertebrae, Epiphyseal stippling, Short long bone, Short 3rd metacarpal,... |
OMIM:118651 |
| Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
| Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Underdeveloped nasal alae, Micrognathia, Microcephaly, Wide nasal bridge, Microtia, Joint contrac... |
OMIM:248910 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate, Craniosynostosis |
OMIM:600252 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Sagittal craniosynostosis, Wide nasal bridge, Premature posterior fontanelle closure, Hypoteloris... |
OMIM:314320 |
| Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... |
OMIM:102510 |
| Pseudoachondroplasia |
|
Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarth... |
OMIM:177170 |
| Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
| Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, Sagittal craniosynostosis |
OMIM:185900 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
| Craniosynostosis 1 |
|
Frontal bossing, Turricephaly, Sagittal craniosynostosis, Craniosynostosis, Oxycephaly, Scaphocep... |
OMIM:123100 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... |
OMIM:618167 |
| Trigonocephaly 2 |
|
Trigonocephaly, Wide nasal bridge, Metopic synostosis, Hypertelorism |
OMIM:614485 |
| Symphalangism, Distal |
|
Distal foot symphalangism, Distal symphalangism of hands, Craniosynostosis |
OMIM:185700 |
| Radial Hemimelia |
|
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... |
ORPHA:93321 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short... |
ORPHA:968 |
| Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome |
|
Craniosynostosis |
ORPHA:2866 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Metopic suture patent to nasal root, Premature posterior fontanelle closure, Multiple suture cran... |
ORPHA:3369 |
| Primary Basilar Invagination |
|
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck |
ORPHA:2285 |
| Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
| Craniosynostosis, Adelaide Type |
|
Craniosynostosis, Carpal bone malsegmentation |
OMIM:600593 |
| Delayed Membranous Cranial Ossification |
|
Frontal bossing, Hypertelorism, Prominent occiput, Decreased skull ossification, Midface retrusion |
ORPHA:3034 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Frontal bossing, Craniosynostosis, Hypertelorism, Micrognathia, Wide nasal bridge, Short philtrum... |
ORPHA:1516 |
| Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Coxa ... |
ORPHA:1988 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
| Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
| Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
| Chromosome 1Q21.1 Duplication Syndrome |
|
Frontal bossing, Hypertelorism |
OMIM:612475 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Craniosynostosis 2 |
|
Frontal bossing, Bicoronal synostosis, Wormian bones, Turricephaly, Cleft soft palate, Craniosyno... |
OMIM:604757 |
| Maxillonasal Dysplasia, Binder Type |
|
Large earlobe, Short nose, Short columella, Depressed nasal bridge |
OMIM:155050 |
| Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
| Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| Brachyolmia, Maroteaux Type |
|
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis |
ORPHA:93302 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal form of the vertebral bodi... |
ORPHA:3104 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Trigonocephaly 1 |
|
Craniosynostosis, High, narrow palate, Wide nasal bridge, Hypotelorism, Metopic synostosis, Long ... |
OMIM:190440 |
| Becker Nevus Syndrome |
|
Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusi... |
ORPHA:64755 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Macrocephaly, Microtia, Anteverted nares, Underdeveloped nasal alae |
OMIM:612138 |
| Membranous Cranial Ossification, Delayed |
|
Frontal bossing, Hypertelorism |
OMIM:155980 |
| Branchiootic Syndrome |
|
Facial palsy, Micrognathia, Sensorineural hearing impairment, Abnormality of the inner ear, Atres... |
ORPHA:52429 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
| Meier-Gorlin Syndrome 8 |
|
Microtia, Low-set ears, Micrognathia |
OMIM:617564 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Narrow nasal bridge, Abnormal dental enamel morphology, Elbow dislocation, Aplasia/Hypoplasia of ... |
ORPHA:3236 |
| Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
| Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... |
OMIM:182255 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Hypertelorism, Micrognathia, Unilambdoid synostosis, Brachycephaly,... |
OMIM:618577 |
| Prognathism, Mandibular |
|
Mandibular prognathia, Thick lower lip vermilion, Craniosynostosis |
OMIM:176700 |
| Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp... |
ORPHA:93304 |
| Microtia, Hearing Impairment, And Cleft Palate |
|
Increased incisura length, Mixed hearing impairment, Overfolded helix, Microtia, Stenosis of the ... |
OMIM:612290 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
| Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Orofacial cleft, Craniosynostosis |
OMIM:218650 |
| 6Q16 Microdeletion Syndrome |
|
Abnormal ear morphology, Anteverted nares, Depressed nasal bridge, Micrognathia, Bulbous nose, Mi... |
ORPHA:171829 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Platyspondyly, Delayed ossification of carpal bones, I... |
OMIM:617974 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Platyspondyly, Abnormality of the ankle, Bilateral coxa valga, Abnormal ... |
ORPHA:163665 |
| Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Short nose, Anteverted nares |
ORPHA:2015 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor... |
ORPHA:1836 |
| X-Linked Intellectual Disability, Stoll Type |
|
Frontal bossing, Long philtrum, Malar flattening, Hypertelorism |
ORPHA:85326 |
| Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
| Cranioectodermal Dysplasia |
|
Frontal bossing, Abnormal dental enamel morphology, Craniosynostosis, Abnormality of the dentitio... |
ORPHA:1515 |
| Craniosynostosis 4 |
|
Sagittal craniosynostosis, Hypertelorism, Proptosis, Pansynostosis, Lambdoidal craniosynostosis, ... |
OMIM:600775 |
| Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
| Robinow-Sorauf Syndrome |
|
Craniosynostosis, Hypertelorism, Long nose, Plagiocephaly, Pansynostosis, Shallow orbits, Malar f... |
OMIM:180750 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
| 3-Hydroxyisobutyric Aciduria |
|
Microcephaly, Microtia, Micrognathia |
ORPHA:939 |
| Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Hearing abnormal... |
ORPHA:2935 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... |
ORPHA:2098 |
| Adducted Thumbs Syndrome |
|
Craniosynostosis, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, High palate, A... |
OMIM:201550 |
| Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... |
ORPHA:2311 |
| Cole-Carpenter Syndrome 1 |
|
Osteopenia, Frontal bossing, Recurrent fractures, Micrognathia, Dentinogenesis imperfecta, Reduce... |
OMIM:112240 |
| Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... |
OMIM:609166 |
| Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
| Ring Chromosome 8 Syndrome |
|
Short nose, Anteverted nares, Round ear |
ORPHA:1450 |
| Acrocephalopolydactyly |
|
Genu recurvatum, Short nose, Microtia, Depressed nasal ridge |
ORPHA:221054 |
| Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
| Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
| Craniosynostosis 6 |
|
Turricephaly, Delayed cranial suture closure, Craniosynostosis, Hypertelorism, Parietal foramina,... |
OMIM:616602 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Frontal bossing, Coarse facial features, Recurrent fractures, Craniosynostosis, Hyper... |
OMIM:147060 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short neck, Microg... |
ORPHA:2756 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... |
OMIM:184252 |
| Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Enlarged joints, Pectus excavatum, Delayed epiphyseal ossification, Cutaneous syndactyly, Genu va... |
ORPHA:166024 |
| Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
| Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnorm... |
ORPHA:1354 |
| Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Postnatal macrocephaly, Microtia |
OMIM:618158 |
| Pterygium Colli, Isolated |
|
Short nose, Protruding ear |
OMIM:177990 |
| Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... |
ORPHA:85166 |
| Holt-Oram Syndrome |
|
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Pectu... |
OMIM:142900 |
| Jackson-Weiss Syndrome |
|
Calcaneonavicular fusion, Craniosynostosis, Proptosis, Malar flattening, Coronal craniosynostosis... |
OMIM:123150 |
| Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
| Winchester Syndrome |
|
Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals |
OMIM:277950 |
| Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Microcephaly, Bifid nasal tip, Microtia, Bifid nose, Atresia of the external auditory canal, Cond... |
ORPHA:2213 |
| Summitt Syndrome |
|
Prominent metopic ridge, Narrow face, Camptodactyly of finger, Craniosynostosis, Hypertelorism, G... |
ORPHA:3210 |
| Oculoauriculofrontonasal Syndrome |
|
Wide nose, Underdeveloped nasal alae, Micrognathia, Bifid nasal tip, Microcephaly, Microtia, Macr... |
ORPHA:398156 |
| Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
| Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
| Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
| Orofaciodigital Syndrome Xviii |
|
Brachydactyly, Sandal gap, Single transverse palmar crease, Accessory oral frenulum, Postaxial po... |
OMIM:617927 |
| Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Dental malocclusion, Horner syndrome, Microtia, Short mandibular rami |
OMIM:141300 |
| Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... |
ORPHA:50815 |
| Catifa Syndrome |
|
Delayed eruption of teeth, Cleft lip, Cleft palate, Microtia, Increased overbite, Long philtrum, ... |
OMIM:618761 |
| Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Cholesteatoma |
OMIM:614113 |
| Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Camptodactyly of fin... |
ORPHA:1703 |
| Hemifacial Microsomia With Radial Defects |
|
Conductive hearing impairment, Short mandibular rami, Microtia, Atresia of the external auditory ... |
OMIM:141400 |
| Wilson-Turner Syndrome |
|
Uplifted earlobe, Malar prominence, Broad nasal tip, Micrognathia, Microtia |
ORPHA:3459 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Micrognathia, Capitate-hamate fusion, Radial head subluxation, Wide nasal bridge, Cleft palate, G... |
OMIM:614078 |
| 20P12.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Microtia, Macrocephaly, Thi... |
ORPHA:261295 |
| Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
| Epiphyseal Dysplasia, Multiple, 6 |
|
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... |
OMIM:614135 |
| Galactosialidosis |
|
Abnormality of the vertebral column, Abnormal vertebral morphology |
ORPHA:351 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Stapes ankylosis, Anteverted nares, Microcephaly, Wide nasal bridge, Radioulnar synostosis, Low-s... |
OMIM:614701 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... |
OMIM:600384 |
| Bor Syndrome |
|
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... |
ORPHA:107 |
| Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
| Earring Holes, Natural |
|
Congenital earlobe sinuses |
OMIM:129000 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
| Renal, Genital, And Middle Ear Anomalies |
|
Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
| Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
| Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... |
OMIM:223800 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Abnormal thorax morphology, Finger syndactyly |
ORPHA:85203 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Pes planus, Short neck, Tapered finger, Multiple joint dislocation, Hip d... |
OMIM:618395 |
| Cole-Carpenter Syndrome 2 |
|
Osteopenia, Frontal bossing, Wide cranial sutures, Turricephaly, Microretrognathia, Recurrent fra... |
OMIM:616294 |
| Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Sensorineural hearing impairment, Hip dislocation, Cleft palate, Hand polydactyl... |
OMIM:223200 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Craniosynostosis, Widely spaced teeth, Joint hypermobility |
OMIM:618906 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... |
OMIM:271650 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... |
OMIM:603546 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Vertebr... |
ORPHA:1570 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Flat capital femoral epiphysis, Pectus carinatum, Genu valgum, Irregular ve... |
OMIM:609223 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Missing ribs, Short neck, Absent thumb, Absent radius, Humeroradial synostosis, Micro... |
OMIM:251230 |
| Jawad Syndrome |
|
Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd... |
OMIM:251255 |
| Humeroradial Synostosis |
|
Small earlobe, Microtia, Wide nasal bridge |
OMIM:236400 |
| Isotretinoin Syndrome |
|
Depressed nasal bridge, Micrognathia, Microtia, Biparietal narrowing, Abnormality of the outer ear |
ORPHA:2305 |
| Smith-Mccort Dysplasia 2 |
|
Barrel-shaped chest, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Hyper... |
OMIM:615222 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Humeroradial synostosis, Brachycephaly, Craniosynostosis |
OMIM:614416 |
| Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Talipes, Pectus excavatum, Scoliosis, Clinodactyly of... |
ORPHA:376 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v... |
ORPHA:40 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormality of the inne... |
ORPHA:2549 |
| Treacher Collins Syndrome 2 |
|
Microretrognathia, Choanal atresia, Micrognathia, Fusion of middle ear ossicles, Anotia, Microtia... |
OMIM:613717 |
| Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Facial palsy, Micrognathia, Cleft lip, Sensorineural hearing impairment... |
OMIM:301022 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Turricephaly, Craniosynostosis, Hypertelorism, Micrognathia, Brachycephaly, Cleft palate, Malar f... |
ORPHA:2145 |
| Coxoauricular Syndrome |
|
Microtia, Hip dislocation, Atresia of the external auditory canal, Hearing impairment |
ORPHA:1508 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... |
OMIM:613686 |
| Acrocraniofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Anteverted nares, Choanal atresia, ... |
ORPHA:949 |
| Parenti-Mignot Neurodevelopmental Syndrome |
|
Posteriorly rotated ears, Prominent nasal bridge, Craniosynostosis, Micrognathia, Cupped ear, Mic... |
OMIM:619873 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Halberd-shaped pelvis, Narr... |
OMIM:156530 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Pectus carinatum, Delayed ossification of carpal bones, Short femoral neck, Brachydactyly |
OMIM:618392 |
| Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga |
OMIM:271620 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Vertebral hyperostosis |
OMIM:106400 |
| Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... |
OMIM:187760 |
| Maxillofacial Dysostosis |
|
Abnormal pinna morphology |
OMIM:155000 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... |
ORPHA:93360 |
| Developmental And Epileptic Encephalopathy 80 |
|
Death in infancy, Optic disc pallor, Tented upper lip vermilion, Posteriorly rotated ears, Abnorm... |
OMIM:618580 |
| Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Intestinal malrotation, Dilatated in... |
OMIM:113650 |
| Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
| Chromosome 16P11.2 Deletion Syndrome, 593-Kb |
|
Micrognathia, Midface retrusion, Hypertelorism |
OMIM:611913 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Broad nasal tip, Micrognathia, Microcephaly, Microtia, Atresia of the external auditory canal, Bi... |
OMIM:239800 |
| Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Wide nose, Micrognathia, Microtia, Low-set ears, Malar flattening, Thick nasal alae |
ORPHA:357175 |
| Auriculocondylar Syndrome 2A |
|
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Mic... |
OMIM:614669 |
| Craniotelencephalic Dysplasia |
|
Craniosynostosis, Hypotelorism |
OMIM:218670 |
| Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
| Schneckenbecken Dysplasia |
|
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat... |
OMIM:269250 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplates, Platyspondyl... |
OMIM:604864 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Short neck, Sensorineural hearing impairment, Hydrocephalus, Alveolar ridge ov... |
OMIM:612938 |
| Treacher Collins Syndrome 3 |
|
Micrognathia, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impairment, Malar fl... |
OMIM:248390 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Coarse facial features, Craniosynostosis, Thick lower lip vermilion, Hip dislocatio... |
OMIM:619451 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
| Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx ... |
OMIM:184260 |
| Adenylosuccinate Lyase Deficiency |
|
Short nose, Anteverted nares, Low-set ears |
ORPHA:46 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
| Greig Cephalopolysyndactyly Syndrome |
|
Frontal bossing, Wide nasal bridge, Craniosynostosis, Hypertelorism |
ORPHA:380 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Fibular hypopla... |
OMIM:201170 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sacral dimple, Dental crowding, Sandal gap, Postaxial polydactyly, Hype... |
OMIM:615761 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
| Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the vertebral bodies, Clavicu... |
ORPHA:2790 |
| Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Flared, irregular rib ends, Coxa vara, Short palm |
ORPHA:168555 |
| Parietal Foramina With Cleidocranial Dysplasia |
|
Macrocephaly, Microtia, Widely patent fontanelles and sutures |
OMIM:168550 |
| Zechi-Ceide Syndrome |
|
Mandibular prognathia, Wide nose, Abnormal earlobe morphology, Wide nasal bridge, Microtia, Abnor... |
ORPHA:217017 |
| Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Postaxial polydactyly, Cleft palate, Kyphoscoliosis |
OMIM:612913 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Antley-Bixler Syndrome |
|
Frontal bossing, Turricephaly, Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodact... |
ORPHA:83 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
| Microtia With Meatal Atresia And Conductive Deafness |
|
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment |
OMIM:251800 |
| Muenke Syndrome |
|
Hypertelorism, Capitate-hamate fusion, Dental malocclusion, Brachycephaly, Plagiocephaly, Proptos... |
OMIM:602849 |
| Greig Cephalopolysyndactyly Syndrome |
|
Frontal bossing, Trigonocephaly, Craniosynostosis, Hypertelorism, Scaphocephaly, Wide nasal bridg... |
OMIM:175700 |
| Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Wide nose, Micrognathia, Microtia, Low-set ears, Malar flattening, Thick nasal alae |
OMIM:615162 |
| Osteoglosphonic Dysplasia |
|
Craniosynostosis, Hypertelorism, Micrognathia, Multiple unerupted teeth, Tooth agenesis, Abnormal... |
ORPHA:2645 |
| Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... |
ORPHA:168549 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis |
ORPHA:88643 |
| Trichodentoosseous Syndrome |
|
Frontal bossing, Increased bone mineral density, Taurodontia, Widely spaced teeth, Dolichocephaly... |
OMIM:190320 |
| Cerebrofaciothoracic Dysplasia |
|
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... |
ORPHA:1394 |
| Multiple Synostoses Syndrome 4 |
|
Otosclerosis, Tarsal synostosis |
OMIM:617898 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... |
OMIM:311300 |
| Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
| Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
| Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Abnormal form of the verteb... |
ORPHA:83468 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Microtia, Atresia of the external auditory canal, Micrognathia |
OMIM:300946 |
| Congenital Disorder Of Glycosylation, Type Iin |
|
Osteopenia, Craniosynostosis, Joint hypermobility |
OMIM:616721 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Arthropathy, Dental crowding, Craniosynostosis, Scaphocephaly, Hip dislocation, Macroglossia, Joi... |
OMIM:618523 |
| Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Hypertelorism, Micrognathia, Gingival overgrowth, Decreased calvarial ossification, ... |
OMIM:614592 |
| Tricho-Dento-Osseous Syndrome |
|
Frontal bossing, Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, En... |
ORPHA:3352 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Ovoid vertebral bodies, Avascular necrosis of the capital... |
OMIM:132400 |
| Gomez-Lopez-Hernandez Syndrome |
|
Turricephaly, Craniosynostosis, Hypertelorism, Wide anterior fontanel, Brachycephaly, Skull asymm... |
OMIM:601853 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Sagittal craniosynostosis, H... |
ORPHA:2872 |
| Postaxial Acrofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Cupped ear, Microtia, C... |
ORPHA:246 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Craniosynostosis, Brachycephaly, High palate |
ORPHA:314575 |
| Microtia |
|
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic ... |
ORPHA:83463 |
| Muenke Syndrome |
|
Tarsal synostosis, Hypertelorism, High, narrow palate, Brachycephaly, Plagiocephaly, Proptosis, C... |
ORPHA:53271 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
| Short Stature And Facioauriculothoracic Malformations |
|
Cleft upper lip, Short neck, Cupped ear, Cleft palate, Microtia, High palate, Low-set ears, Overf... |
OMIM:609654 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Delayed closure of the anterior fontanelle, Abnormal foot morphology, Abnormal thorax morphology,... |
OMIM:605274 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Low-set, posteriorly rotated ears, Microretrognathia, Camptodactyly of finger, Microcephaly, Micr... |
ORPHA:2994 |
| Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Wide nose, Anteverted nares, Craniosynostosis, Microtia, Low-set ears, Macrocephaly, Hearing impa... |
OMIM:619056 |
| Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... |
ORPHA:137888 |
| Frontoocular Syndrome |
|
Micrognathia, Narrow philtrum, Hypotelorism, Proptosis, High palate, Narrow mouth, Trigonocephaly... |
OMIM:605321 |
| Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal |
OMIM:221320 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Turricephaly, Craniosynostosis, Hypertelorism, Micrognathia, Large fontanelles, Brachycephaly, Ra... |
ORPHA:171839 |
| Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Short ribs, Bell-shaped thorax |
OMIM:187750 |
| Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Microtia |
ORPHA:139450 |
| Acrorenal Syndrome |
|
Hand oligodactyly |
OMIM:102520 |
| Craniofrontonasal Dysplasia |
|
Frontal bossing, Camptodactyly of finger, Craniosynostosis, Hypertelorism, Abnormality of the den... |
ORPHA:1520 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Accessory oral frenulum, Hamartoma of tongue, Postaxial polydactyly, Cleft palate... |
OMIM:258860 |
| Johnson Neuroectodermal Syndrome |
|
Choanal atresia, Facial palsy, Microcephaly, Carious teeth, Bulbous nose, Anosmia, Protruding ear... |
ORPHA:2316 |
| Crouzon Syndrome |
|
Mandibular prognathia, Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hypertelorism... |
OMIM:123500 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ... |
ORPHA:2635 |
| Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
| Atelis Syndrome 1 |
|
Glue ear, Eczema, Prominent nose, Carious teeth, Bronchiectasis, Microtia |
OMIM:620184 |
| Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
| Arthrogryposis, Distal, Type 1A |
|
Hip contracture, Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Ro... |
OMIM:108120 |
| Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
| Craniosynostosis With Fibular Aplasia |
|
Craniosynostosis |
OMIM:218550 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Barrel-shaped chest, Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivo... |
OMIM:226980 |
| Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
| Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi... |
ORPHA:56305 |
| Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
| Macrocephaly-Developmental Delay Syndrome |
|
Mandibular prognathia, Frontal bossing, Microretrognathia, Craniosynostosis, Scaphocephaly, Wide ... |
ORPHA:397612 |
| Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
| Ayme-Gripp Syndrome |
|
Mandibular prognathia, Smooth philtrum, Thin upper lip vermilion, Hypertelorism, Abnormality of t... |
OMIM:601088 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... |
ORPHA:1106 |
| Hartsfield Syndrome |
|
Cleft palate, Non-midline cleft lip, Craniosynostosis, Hypertelorism |
ORPHA:2117 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Hypertelorism, Brachycephaly, Proptosis, Metacarpal synostosis, Midface retrusion |
ORPHA:35099 |
| Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening, Coronal cranios... |
OMIM:241310 |
| Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Cleft palate, Plagiocephaly, Decreased calvarial ossification, Tr... |
OMIM:618265 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
| Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... |
ORPHA:1435 |
| Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Hypertelorism, Hypoplasia of the maxilla, Brachycephaly, Narrow pa... |
ORPHA:207 |
| Basilar Impression, Primary |
|
Platybasia, Craniofacial asymmetry |
OMIM:109500 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Attached earlobe, Mandibular prognathia, Low-set, posteriorly rotated ears, Anteverted nares, Dep... |
ORPHA:1327 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Short nose, Microtia, Camptodactyly of finger, Micrognathia |
ORPHA:2547 |
| Rhiny |
|
Short nose, Anteverted nares |
OMIM:180360 |
| Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Sacral dimple, Ulnar deviation of the hand, Abnormal pinna morphology, P... |
OMIM:614175 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Delayed closure of the anterior fontanelle, Brachycephaly, Lambdoidal craniosynosto... |
OMIM:618736 |
| Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Death in infancy, Lumb... |
OMIM:256050 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Diabetes Insipidus, Neurohypophyseal |
|
Osteopenia, Long philtrum, Short nose, Hypertelorism |
OMIM:125700 |
| Pierre Robin Syndrome And Oligodactyly |
|
Hand oligodactyly, Micrognathia |
OMIM:172880 |
| Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
| Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
| Joubert Syndrome 10 |
|
Deep philtrum, Thick vermilion border, Postaxial polydactyly, Low-set ears |
OMIM:300804 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elb... |
ORPHA:2633 |
| Otofaciocervical Syndrome |
|
Anteverted nares, Depressed nasal bridge, Protruding ear, Abnormal antihelix morphology, Atresia ... |
ORPHA:2792 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Coronal craniosynostosis, Microtia, Retrognathia, Microcephaly |
ORPHA:163976 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Microretrognathia, Hip contracture, Pes planus, Kyphoscoliosis, Hyperlordosis, Coxa valga, Microg... |
OMIM:618363 |
| Boomerang Dysplasia |
|
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... |
ORPHA:1263 |
| Arthrogryposis, Distal, Type 1C |
|
Short neck, Limited neck range of motion, High palate, Clinodactyly of the 5th finger, Camptodact... |
OMIM:619110 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia,... |
ORPHA:163966 |
| Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... |
OMIM:200990 |
| Familial Scaphocephaly Syndrome, Mcgillivray Type |
|
Mandibular prognathia, Hypertelorism, Open bite, High palate, Dolichocephaly, Trigonocephaly, Mid... |
ORPHA:168624 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Elbow dislo... |
ORPHA:2631 |
| Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
| Braddock-Carey Syndrome 2 |
|
Microcephaly, Bulbous nose, Atresia of the external auditory canal, Retrognathia, Hearing impairment |
OMIM:619981 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Posteriorly rotated ears, Protruding tongue, Submucous cleft hard palate, Wide m... |
OMIM:618106 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Micrognathia, Prominent nose,... |
OMIM:618829 |
| Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Thin ribs, Femoral bowing, ... |
OMIM:620076 |
| Deafness, X-Linked 7 |
|
Posteriorly rotated ears, Wide nasal bridge, Atresia of the external auditory canal, Stenosis of ... |
OMIM:301018 |
| Weiss-Kruszka Syndrome |
|
Prominent metopic ridge, Anteverted nares, Hearing impairment, Cupped ear, Protruding ear, Microt... |
OMIM:618619 |
| Down Syndrome |
|
Thickened nuchal skin fold, Aganglionic megacolon, Protruding tongue, Abnormality of the dentitio... |
ORPHA:870 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Anteverted nares, Choanal atresia, Micrognathia, Microcephaly, Progressive microcephaly, Microtia... |
OMIM:610536 |
| Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... |
OMIM:251450 |
| Seckel Syndrome 7 |
|
Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Lumbar scoliosis, Clinodactyly of ... |
OMIM:614851 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Microtia, Pancreatitis, Recurrent upper respiratory tract infections |
OMIM:620137 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa var... |
OMIM:608940 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
| External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome |
|
Atresia of the external auditory canal, Hearing impairment |
ORPHA:3023 |
| Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Abnormal pinna morphology, Split hand, Hand oligodactyly, Cleft palate,... |
OMIM:183600 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Short neck, Knee flexion contracture, Intercrural pterygium, Camptodactyly of toe, Pterygium, Dis... |
OMIM:265000 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Rhizomelia, Single transverse palmar crease, Kyphoscoliosis, Short neck, Broa... |
OMIM:611209 |
| Paganini-Miozzo Syndrome |
|
Mandibular prognathia, Posteriorly rotated ears, Microtia, Low-set ears, Malar flattening |
OMIM:301025 |
| Marshall-Smith Syndrome |
|
Craniosynostosis, Hypertelorism, Protruding tongue, Gingival overgrowth, Increased susceptibility... |
ORPHA:561 |
| Sprengel Deformity |
|
Torticollis, Shoulder muscle hypoplasia, Short neck, Cleft palate, Abnormal shoulder morphology, ... |
ORPHA:3181 |
| Craniotelencephalic Dysplasia |
|
Frontal bossing, Craniosynostosis |
ORPHA:1528 |
| Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Abnormal form of the vertebral b... |
ORPHA:1149 |
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, 2-3 toe syndactyly, Cubitus valgus, Clinodactyly, ... |
OMIM:610313 |
| Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... |
ORPHA:2319 |
| Catel-Manzke Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Cleft palate, Glossoptosis, Chronic otitis media... |
ORPHA:1388 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... |
OMIM:617405 |
| Vitamin K Antagonist Embryofetopathy |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Optic atrophy, Microtia, Short nose, H... |
ORPHA:1914 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Mixed hearing impairment, Posteriorly rotated ears, Micrognathia, Sensorineural hearing impairmen... |
OMIM:606164 |
| Polydactyly, Postaxial, Type A10 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A |
OMIM:618498 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Anteverted nares, Posteriorly rotated ears, Micrognathia, Keratitis, Wide nasal bridge, Microtia,... |
OMIM:602562 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Hyper... |
ORPHA:63446 |
| Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Prominent metopic ridge, Wormian bones, Posteriorly rotated ears, Abno... |
ORPHA:2789 |
| Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Coronal craniosynostosis, Lambdoidal craniosynostosis |
OMIM:601370 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Hypertelorism, Limitation of joint mobility, Dolichocephaly, Wormian bones, Pathologic fracture, ... |
ORPHA:166277 |
| Intellectual Developmental Disorder, X-Linked 45 |
|
Macrotia, Protruding ear |
OMIM:300498 |
| Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly |
ORPHA:2956 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
