| 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 |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... |
OMIM:602111 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Abnormal pinna morphology, Short neck, Cleft upper lip, Sensorineural hearing impairment, Cleft p... |
OMIM:214300 |
| Acitretin/Etretinate Embryopathy |
|
Aplasia/Hypoplasia of the maxilla, Anteverted nares, Micrognathia, Microcephaly, Cupped ear, Ante... |
ORPHA:40366 |
| Pfeiffer Syndrome |
|
Mandibular prognathia, Cloverleaf skull, Dental crowding, Hypertelorism, Hypoplasia of the maxill... |
OMIM:101600 |
| Icf Syndrome |
|
Communicating hydrocephalus, Malabsorption, Protruding tongue, Micrognathia, Macroglossia, Low-se... |
ORPHA:2268 |
| Acromicric Dysplasia |
|
Short metacarpal, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot, Short long bone, Sho... |
OMIM:102370 |
| Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Tarsal synostosis, Bilateral conductive hearing impairment, Abnormality of the ankle, Atresia of ... |
ORPHA:2010 |
| Weyers Acrofacial Dysostosis |
|
Conical tooth, Postaxial hand polydactyly, Prominent antihelix, Postaxial foot polydactyly, Clino... |
OMIM:193530 |
| Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis |
OMIM:604919 |
| Eiken Syndrome |
|
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
| Smith-Mccort Dysplasia 1 |
|
Barrel-shaped chest, Short metacarpal, Hypoplastic scapulae, Iliac crest serration, Multicentric ... |
OMIM:607326 |
| Ohdo Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Hypoplasia of teeth, M... |
OMIM:249620 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Distal Deletion 17Q |
|
Low-set, posteriorly rotated ears, Prominent metopic ridge, Microcephaly, Optic atrophy, Microtia |
ORPHA:1597 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Tarsal synostosis, Micrognathia, Microtia, Atresia of the external auditory canal, Low-set ears |
ORPHA:3429 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly |
OMIM:615938 |
| Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Mixed hearing impairment, Death in infancy, Posteriorly rotat... |
OMIM:259775 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Micromelia, Bowing of the le... |
OMIM:608728 |
| Kbg Syndrome |
|
Vertebral fusion, Syndactyly, Single transverse palmar crease, Short neck, Rib fusion, Vertebral ... |
OMIM:148050 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... |
OMIM:250420 |
| Auriculocondylar Syndrome 1 |
|
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Cup... |
OMIM:602483 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... |
OMIM:268310 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Posteriorly rotated ears, Cleft lip, Cleft palate, Downturned corners of mouth, Microtia, Everted... |
OMIM:618089 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Rocker bottom foot, Short neck, Kyphosis, Prenatal death, Camptodactyly, Neonat... |
OMIM:618393 |
| 16P13.11 Microduplication Syndrome |
|
Joint hyperflexibility, Craniosynostosis, Dolichocephaly |
ORPHA:261243 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Microtia, Depressed nasal bridge, Hearing impairment |
OMIM:616006 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Microcephaly, EEG with burst suppression, Wide nasal bridge, Aplasia/Hypoplasia of the external e... |
ORPHA:168486 |
| Aase-Smith Syndrome |
|
Abnormal pinna morphology, Camptodactyly of finger, Cleft palate, Aplasia/Hypoplasia of the radiu... |
ORPHA:916 |
| Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal r... |
ORPHA:2345 |
| Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Posteriorly rotated ears, Anteverted nares, Depressed nasal ridge, Low-set ears, Short nose |
ORPHA:1832 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Sagittal craniosynostosis, Micrognathia, Hypertelorism, Scaphocephaly, Trigonocephaly |
OMIM:616901 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
| Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Achilles tendon contracture, Dental maloccl... |
OMIM:619719 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Pes planus, Abnormality of the hand, Frontal encephalocele, Abnormality of the upper limb, Clinod... |
ORPHA:521308 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Relative macrocephaly, Posteriorly rotated ears, Eczema, Micrognathia, Long nose, Microcephaly, M... |
OMIM:618336 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars... |
OMIM:617102 |
| Chromosome 5P13 Duplication Syndrome |
|
Frontal bossing, Turricephaly, Craniosynostosis, Hypertelorism, Wide nasal bridge, Brachycephaly,... |
OMIM:613174 |
| Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Submucous cleft hard palate, Unilateral cleft lip, Darwin tubercle of helix, Su... |
OMIM:619122 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
| Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the... |
ORPHA:429 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Scoliosis, Spina bifida oc... |
ORPHA:64754 |
| Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Clinodactyly |
OMIM:615984 |
| Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspon... |
OMIM:602271 |
| Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Stapes ankylosis, Delayed eruption of teeth, Wide nose, Depressed nasal br... |
OMIM:614188 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha... |
ORPHA:370010 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Low-set, posteriorly rotated ears, Anteverted nares, Genu valgum, EEG abnormality, Hypoplasia of ... |
ORPHA:1035 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Conical tooth, Cleft upper lip, P... |
OMIM:263750 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypop... |
OMIM:184250 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... |
OMIM:271520 |
| Lowry-Maclean Syndrome |
|
Osteopenia, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Delay... |
ORPHA:2409 |
| Pfeiffer Syndrome Type 1 |
|
Hypertelorism, Brachycephaly, Proptosis, High palate, Short nose, Midface retrusion, Bicoronal sy... |
ORPHA:93258 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... |
ORPHA:1788 |
| Teebi Hypertelorism Syndrome 1 |
|
Frontal bossing, Thin upper lip vermilion, Natal tooth, Dental crowding, Sagittal craniosynostosi... |
OMIM:145420 |
| Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
| 15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Oligodactyly |
ORPHA:2440 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Macrodontia, Posteriorly rotated ears, Protruding tongue, Diastema, Short ... |
OMIM:212066 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Abnormality of the wrist, Abnormal nasal morphology, Aplasia/Hypoplasia of the earlobes, Abnormal... |
ORPHA:2878 |
| Usher Syndrome Type 1 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Abnormal ... |
ORPHA:231169 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Mandibular prognathia, Posteriorly rotated ears, Protruding tongue, Prominent crus of helix, Ever... |
OMIM:617804 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Multiple pterygia, Pectus excavatum, Rib fusion, Ante... |
ORPHA:2990 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Short nose, Macrotia, Depressed nasal bridge |
ORPHA:438178 |
| Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Single transverse palmar crease, Short neck, Micrognathia, Femoral bowing, Tibia... |
OMIM:601559 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulde... |
ORPHA:1159 |
| Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Scoliosis, Camptodac... |
OMIM:619751 |
| Spondylosis, Cervical |
|
Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis |
OMIM:184300 |
| Saethre-Chotzen Syndrome |
|
Proximal radio-ulnar synostosis, Depressed nasal bridge, Prominent nasal bridge, Craniosynostosis... |
ORPHA:794 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Redundant neck skin, Posteriorly rotated ears, Protruding tongue, Micrognathia... |
OMIM:214100 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Hemivertebrae, Vertebral wedging, Abnor... |
OMIM:109400 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
| Nager Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Abnormal nasal morpho... |
ORPHA:245 |
| X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Micrognathia, Sensorineural hearing impairment, Protruding ear... |
ORPHA:1131 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Frontal bossing, Hypertelorism, Conical tooth, Abnormality of the dentition, Brachycephaly, Coron... |
ORPHA:228390 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
| Anauxetic Dysplasia 1 |
|
Barrel-shaped chest, Hip contracture, Lumbar hyperlordosis, Rhizomelia, Short neck, Hypoplastic i... |
OMIM:607095 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Genu valgum, Microtia, Severe sensorineural hearing impairment... |
ORPHA:2983 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... |
ORPHA:1307 |
| Osteogenesis Imperfecta, Type Iv |
|
Wormian bones, Otosclerosis, Dentinogenesis imperfecta, Hearing impairment |
OMIM:166220 |
| Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... |
ORPHA:50809 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... |
OMIM:311895 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... |
ORPHA:457395 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Back pain, Abnormal metatarsal morphology, Knee osteoarthritis, Abnormal shoulder morphology, Abn... |
ORPHA:85438 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Genu valgum, Slender long bones with narrow diaphyses, Abnormal rib cage morphology, Long thorax,... |
OMIM:608154 |
| Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finge... |
ORPHA:628 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal form of ... |
ORPHA:1802 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocation, Short lon... |
OMIM:620269 |
| Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Schilbach-Rott Syndrome |
|
Posteriorly rotated ears, Prominent nose, Long nose, Micrognathia, Microcephaly, Microtia |
OMIM:164220 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Spina bifida |
ORPHA:2476 |
| Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia |
OMIM:261800 |
| External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Conductive hearing impairment, Congenital hip dislocation, Atresia of the external auditory canal |
OMIM:133705 |
| Juberg-Hayward Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormal toe morphology, Abnormal carpal morphology, Limited elb... |
OMIM:216100 |
| 17Q21.31 Microduplication Syndrome |
|
Abnormality of the outer ear, Short nose, Anteverted nares |
ORPHA:217340 |
| Hypomandibular Faciocranial Dysostosis |
|
Aplasia/Hypoplasia of the tongue, Craniosynostosis, Brachycephaly, Cleft palate, Bifid uvula, Pro... |
ORPHA:1790 |
| Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Attached earlobe, Anteverted nares, Prominent nasal bridge, Microcephaly, Wide nasal bridge, Micr... |
OMIM:616977 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Protruding tongue, Everted lower lip vermilion, Overfolded helix, Macrotia... |
ORPHA:324410 |
| Lambotte Syndrome |
|
Microcephaly, Retrognathia, Atresia of the external auditory canal, Macrotia, Convex nasal ridge |
OMIM:245552 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Micrognathia, Anteverted ears, Aplasia of the inner ear, Peg-shaped maxillary lateral incisors, M... |
OMIM:610706 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... |
ORPHA:93267 |
| Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Conductive hea... |
OMIM:608257 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Hypertelorism, Micrognathia, Gingival overgrowth, Metopic depression, De... |
ORPHA:313855 |
| Orofaciodigital Syndrome Vi |
|
Tibial bowing, Lobulated tongue, High palate, Conductive hearing impairment, Accessory oral frenu... |
OMIM:277170 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Postaxial hand polydactyly, High palate, Low-set ears, Short finger, Broad thumb |
OMIM:300209 |
| Tetraploidy |
|
Microcephaly, Micrognathia, Biparietal narrowing, Hypoplasia of the ear cartilage, Convex nasal r... |
ORPHA:3305 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Knee osteoarthritis, Platyspond... |
ORPHA:2619 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Short palm, Hy... |
OMIM:611717 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Limb joint contracture, Craniosynostosis, Hypertelorism, Ankle flexion contracture, Micrognathia,... |
ORPHA:284417 |
| Autosomal Recessive Omodysplasia |
|
Frontal bossing, Craniosynostosis, Micrognathia, Elbow dislocation, Long philtrum, Pterygium, Sho... |
ORPHA:93329 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Recurrent shoulder dislocation, Microtia, Retrognathia, Narrow nose, Finger joint contracture |
OMIM:212112 |
| Microtia-Anotia |
|
Anotia, Microtia |
OMIM:600674 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Micrognathia, Hydrocephalus, Cleft palate, Anotia, Microtia |
OMIM:243440 |
| Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Abnormal pinna morphology, Protruding tongue, Persistence of ... |
OMIM:610253 |
| Hypophosphatasia |
|
Large fontanelles, Recurrent fractures, Craniosynostosis, Abnormality of the dentition |
ORPHA:436 |
| 19P13.3 Microduplication Syndrome |
|
Posteriorly rotated ears, Prominent nose, Micrognathia, Underdeveloped nasal alae, Microcephaly, ... |
ORPHA:447980 |
| Even-Plus Syndrome |
|
Bifid nasal tip, Depressed nasal ridge, Atopic dermatitis, Microtia, Short nose |
OMIM:616854 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Protruding tongue, Gingival overgrowth, Wide mouth, Gray matter heterotopia, Low-set ears |
OMIM:618797 |
| Fibrochondrogenesis 2 |
|
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... |
OMIM:614524 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Pallister-Hall Syndrome |
|
Syndactyly, Natal tooth, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, ... |
OMIM:146510 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Short nose, Craniosynostosis |
OMIM:614732 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Retrognathia, Wide nasal bridge, Hypoplasia of teeth, Microtia, Macrocephaly, Short... |
OMIM:620250 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly, Abnormal tongue physiology, Anteverted ears, Wide mouth, Thin vermilion bo... |
ORPHA:544254 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Malabsorption, Micrognathia, Protruding tongue, Macroglossia, Low-set ears |
OMIM:242860 |
| Autosomal Recessive Robinow Syndrome |
|
Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Bila... |
ORPHA:1507 |
| Chromosome 20Q11-Q12 Deletion Syndrome |
|
Frontal bossing, Hypertelorism, Deeply set eye, Short philtrum, Camptodactyly, Midface retrusion |
OMIM:614257 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Kyphosis, Limited elbow extension, Short metatarsal, Small hand, Sh... |
OMIM:180870 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Short columella, Microtia, Atresia of the external auditory ca... |
ORPHA:1770 |
| Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Wormian bone... |
OMIM:259440 |
| Three M Syndrome 3 |
|
Hyperlordosis, Short neck, Increased vertebral height, Short thorax, Slender long bone, Hip dyspl... |
OMIM:614205 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Large posterior fontanelle, Frontal bossing, Abnormal dental morphology, Tarsal synostosis, Abnor... |
ORPHA:85199 |
| Auriculocondylar Syndrome 3 |
|
Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ... |
OMIM:615706 |
| Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Patellar aplasia, Microti... |
OMIM:613804 |
| Aural Atresia, Congenital |
|
Conductive hearing impairment, Hyposmia, Atresia of the external auditory canal |
OMIM:607842 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Hypertelorism, Diastema, Deep philtrum, Talon cusp, Cleft palate, Plagiocephal... |
OMIM:605282 |
| Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Hyporeflexia of lower limbs, Areflexia of lower limbs, Calcaneovalgus deformity, Hyperlordosis |
OMIM:162370 |
| Non-Distal Duplication 10Q |
|
Low-set, posteriorly rotated ears, Short nose, Depressed nasal bridge, Convex nasal ridge |
ORPHA:1695 |
| Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Sandal gap, Hamartoma of tongu... |
OMIM:174300 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Trident pelvis, Bowing of the long bones, Kyphoscoliosis, Postaxial poly... |
OMIM:614815 |
| Clark-Baraitser syndrome |
|
Joint laxity, Frontal bossing, Exaggerated median tongue furrow, Coarse facial features, Genu rec... |
OMIM:300602 |
| Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Rhizomelia, Cervical kyphosis, Sandal gap, Short nec... |
OMIM:108721 |
| 49,Xyyyy Syndrome |
|
Abnormality of the epiphyses of the elbow, Large carpal bones, Micrognathia, Lower limb asymmetry... |
ORPHA:99330 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... |
OMIM:610017 |
| Juvenile Sialidosis Type 2 |
|
Protruding tongue, Optic atrophy, Gingival overgrowth, Low-set ears, Umbilical hernia, Hearing im... |
ORPHA:93399 |
| Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carinatum, Knee disloca... |
OMIM:615777 |
| Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... |
ORPHA:763 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Retrognathia, Anotia, Mic... |
OMIM:616462 |
| 20Q11.2 Microdeletion Syndrome |
|
Frontal bossing, Hypertelorism, Deeply set eye, Short philtrum, Camptodactyly, Midface retrusion |
ORPHA:444051 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... |
OMIM:151210 |
| Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
| 3P25.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thu... |
ORPHA:435638 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology |
ORPHA:1513 |
| Congenital Disorder Of Deglycosylation 2 |
|
Genu recurvatum, Micrognathia, Short columella, Microtia, Macrocephaly, Cleft earlobe, Hearing im... |
OMIM:619775 |
| Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Abnormal fibula morphology, G... |
ORPHA:85198 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
| Steel Syndrome |
|
Carpal synostosis, Pes planus, Lumbar hyperlordosis, Hip dislocation, Coxa vara, Scoliosis, Clino... |
OMIM:615155 |
| Arthrogryposis, Distal, Type 2B1 |
|
Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Metatars... |
OMIM:601680 |
| Intellectual Disability, Birk-Barel Type |
|
Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow palate, Incisor ma... |
ORPHA:166108 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Lacrimoauriculodentodigital Syndrome 2 |
|
Carious teeth, Cupped ear, Microtia, Conjunctivitis, Hearing impairment |
OMIM:620192 |
| Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
| Arthrogryposis, Distal, Type 11 |
|
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... |
OMIM:620019 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
| Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Lumb... |
OMIM:619636 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Kyphosis, Deep philtrum,... |
ORPHA:404440 |
| Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Abnormality of the stapes, Wormian bones, Aganglionic megacolon, Micro... |
ORPHA:798 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Short nose, Anteverted nares |
ORPHA:1355 |
| Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... |
ORPHA:392 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Rib fusion, Hand polydactyly, Scoliosis, Abnormal vertebral morphology |
ORPHA:261197 |
| Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Short thorax, Enlarged thorax, Narrow pelvis bone, Absent or minimally ... |
ORPHA:66637 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumb... |
ORPHA:2064 |
| Polydactyly, Postaxial, Type A9 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:618219 |
| Sweeney-Cox Syndrome |
|
Uplifted earlobe, Micrognathia, Wide anterior fontanel, Velopharyngeal insufficiency, Cupped ear,... |
OMIM:617746 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Joint hypermobility, Diastema, Agenesis of molar, Supernumerary tooth, Osteoporosis, ... |
OMIM:619718 |
| Distal Duplication 5Q |
|
Craniosynostosis, Micrognathia, Hypertelorism, Carious teeth, Thin vermilion border, Narrow mouth... |
ORPHA:96097 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl... |
OMIM:613091 |
| Thoracomelic Dysplasia |
|
Hyperlordosis, Short neck, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shape... |
ORPHA:1803 |
| Congenital Vertical Talus |
|
Pes planus, Rocker bottom foot, Equinus calcaneus, Lower extremity joint dislocation, Abnormality... |
ORPHA:178382 |
| Three M Syndrome 2 |
|
Delayed eruption of teeth, Scapular winging, Lumbar hyperlordosis, Hyperlordosis, Short neck, Sho... |
OMIM:612921 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Craniosynostosis, Postaxial hand p... |
ORPHA:65759 |
| Enlarged Parietal Foramina |
|
Parietal foramina, Cleft lip, Cleft palate, Craniosynostosis |
ORPHA:60015 |
| Larsen Syndrome |
|
Finger syndactyly, Brachydactyly, Large joint dislocations, Craniosynostosis, Accessory carpal bo... |
ORPHA:503 |
| Proximal 16P11.2 Microduplication Syndrome |
|
Tremor, Microtia, Microcephaly |
ORPHA:370079 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Micrognathia, Hydrocephalus, Cleft palate, Spinal dysraphism, ... |
ORPHA:1926 |
| Cdags Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Large fontanelles, Brachycephaly, ... |
OMIM:603116 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl... |
ORPHA:2141 |
| Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... |
OMIM:609655 |
| Diamond-Blackfan Anemia 10 |
|
Posteriorly rotated ears, Choanal atresia, Micrognathia, Microtia, Atresia of the external audito... |
OMIM:613309 |
| Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Lumb... |
OMIM:602875 |
| Van Maldergem Syndrome 1 |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Wide an... |
OMIM:601390 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Flat acetabular roof, Microtia, Low-set ears... |
OMIM:613320 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Abnormal thorax morphology, Small hand, Narrow palm, Scolio... |
ORPHA:1445 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla... |
ORPHA:1856 |
| Orofaciodigital Syndrome Xvii |
|
Median cleft lip, Short neck, Short middle phalanx of the 2nd finger, High, narrow palate, Centra... |
OMIM:617926 |
| Hypersulfaturia |
|
Costochondral pain |
OMIM:620372 |
| Monosomy 5P |
|
Microretrognathia, Finger syndactyly, Short neck, Small hand, Scoliosis |
ORPHA:281 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Thickened nuchal skin fold, Vertebral fusion, Congenital muscular torticollis, Macrodontia, Abnor... |
ORPHA:2916 |
| Spinal Dysplasia, Anhalt Type |
|
Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Coxa vara, Absent spinou... |
OMIM:601344 |
| Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Tremor, ... |
ORPHA:52368 |
| Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
| Osteogenesis Imperfecta, Type I |
|
Wormian bones, Otosclerosis, Dentinogenesis imperfecta, Hearing impairment |
OMIM:166200 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microcephaly, Hypoplasia of teeth, Microtia, Recurrent otitis media, Abnormality of the outer ear... |
ORPHA:2728 |
| Distal Deletion 9P |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Wide nasal bridge, Abnorma... |
ORPHA:1642 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Delayed eruption of teeth, Osteomyelitis, Recurrent fractures, Craniosynostosis, Abno... |
ORPHA:2314 |
| Atelosteogenesis, Type I |
|
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonat... |
OMIM:108720 |
| Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... |
OMIM:186570 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, Bell-shaped tho... |
OMIM:255710 |
| Burn-Mckeown Syndrome |
|
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia |
ORPHA:1200 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Micrognathia, Flared metaphysis, Hypoplastic pubic bone, Platyspon... |
ORPHA:93346 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... |
OMIM:134780 |
| Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... |
OMIM:303110 |
| 17P13.3 Microduplication Syndrome |
|
Low-set ears, Wide nose, Short nose |
ORPHA:217385 |
| Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
| Ring Chromosome 22 Syndrome |
|
Macrotia, Thick vermilion border, Protruding tongue |
ORPHA:1446 |
| Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate, Micrognathia |
ORPHA:718 |
| Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Scoliosis, Abnormality... |
ORPHA:1825 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Atresia of the external auditory canal |
OMIM:209770 |
| Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Microcephaly... |
OMIM:613805 |
| Liang-Wang Syndrome |
|
Thin upper lip vermilion, Hypertelorism, Diastema, Gingival overgrowth, Wide nasal bridge, Downtu... |
OMIM:618729 |
| Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx... |
ORPHA:2839 |
| Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... |
OMIM:612961 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Frontal bossing, Tented upper lip vermilion, Craniosynostosis, Hypertelorism, Skull a... |
OMIM:616723 |
| Shox-Related Short Stature |
|
Short neck, Micrognathia, Madelung deformity, Genu valgum, Short foot, Tibial bowing, Forearm und... |
ORPHA:314795 |
| Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of finger, Atresia of the exte... |
ORPHA:1488 |
| Chromosome 4Q21 Deletion Syndrome |
|
Frontal bossing, Hypertelorism, Dolichocephaly, Downturned corners of mouth, Short philtrum, Narr... |
OMIM:613509 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones... |
OMIM:614091 |
| 2Q24 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Toe syndactyly, Camptodactyly of finger, Short neck, Long fing... |
ORPHA:1617 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Elbow dislocation, Anterior vertebral fusion, Shoulder dislocation, Microtia, Radioulnar synostos... |
OMIM:171480 |
| 17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Micrognathia, Wide nasal bridge, Microtia, Recurrent otitis media, Abnormality of t... |
ORPHA:529962 |
| Congenital Sialidosis Type 2 |
|
Protruding tongue, Hydrocephalus, Optic atrophy, Gingival overgrowth, Low-set ears, Umbilical her... |
ORPHA:93400 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Talipes... |
OMIM:607143 |
| 20Q11.2 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Prominent metopic ridge, Anteverted nares, Depressed nasal bri... |
ORPHA:363659 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Craniosynostosis, Brachycephaly, Hypotelorism, Plagiocephaly, Facial asymmetry |
ORPHA:2163 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Single transverse palmar crease,... |
OMIM:617866 |
| Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Abnormal midbrain morphology, Ethmoidal encephalocele |
ORPHA:280195 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Spinal cord compression, Myelopathy |
OMIM:602475 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
| Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
| Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... |
OMIM:300614 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly of the 5th finge... |
OMIM:619721 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Thin upper lip vermilion, Sacral dimple, Overlapping toe, Postaxial polydactyly, Tapered finger, ... |
OMIM:613792 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology |
OMIM:602196 |
| Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Cupped ear, Microtia, Enamel hypoplasia, Hearing impairment |
OMIM:620193 |
| Distal Xq28 Microduplication Syndrome |
|
Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, Microcephaly, Recurrent upper respiratory ... |
ORPHA:293939 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Sagittal craniosynostosis, Hypertelorism, Micrognathia, Scaphocephaly, Brachycephaly, Cleft palat... |
ORPHA:459061 |
| Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Short thorax, Osteolysis involving bones of the upper limbs, Osteolysis involving bon... |
ORPHA:88630 |
| Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
| Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr... |
OMIM:105835 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... |
OMIM:300863 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Frontal bossing, Wide cranial sutures, Dental crowding, Micrognathia, ... |
OMIM:257850 |
| Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... |
OMIM:228520 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
| Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
| Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Wormian bones, Posteriorly rotated ears, Micrognathia, Abnormality of the middl... |
OMIM:130720 |
| Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal... |
OMIM:215045 |
| Weaver-Williams Syndrome |
|
Protruding ear, Cleft palate, Narrow mouth |
ORPHA:3448 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Low-set ears, Cleft palate, Micrognathia |
OMIM:616570 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Conductive hearing impairment, Short nose, Depressed nasal bridge, Low-set ears |
OMIM:616910 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... |
OMIM:184100 |
| Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
| Microphthalmia With Limb Anomalies |
|
Sacral dimple, Toe syndactyly, Sandal gap, Single transverse palmar crease, Capitate-hamate fusio... |
OMIM:206920 |
| Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short... |
OMIM:600325 |
| Pontine Tegmental Cap Dysplasia |
|
Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis |
OMIM:614688 |
| Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Wide anterior fontanel, Atresia of the external auditory canal, Macrocephaly |
OMIM:601356 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Sh... |
ORPHA:958 |
| Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Exencephaly |
OMIM:614464 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... |
ORPHA:1436 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Lateral clavicle hook, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ribs |
OMIM:615633 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Posteriorly rotated ears, Protruding tongue, Diastema, Sensorineural heari... |
OMIM:301040 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... |
OMIM:263520 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thu... |
ORPHA:1120 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Micrognathia, Microcephaly, Hearing abnormality, Cupped ear, Wide nasal bridge, Microtia |
ORPHA:1352 |
| Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Short hallux, Spinal rigidity, Aplasia/Hypoplasia of the phalanges of the hallux, ... |
ORPHA:337 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Cortical sclerosis, Hypertelorism, Craniofacial... |
OMIM:122860 |
| Isolated Cleft Lip |
|
Conductive hearing impairment, Chronic otitis media, Abnormal Eustachian tube morphology, Supernu... |
ORPHA:199302 |
| Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t... |
ORPHA:90650 |
| Recon Progeroid Syndrome |
|
Attached earlobe, Prominence of the premaxilla, Anteverted nares, Prominent nasal bridge, Narrow ... |
OMIM:620370 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Posteriorly rotated ears, Short nose, Anteverted nares, Low-set ears |
OMIM:618506 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Deeply set eye, Coronal craniosynostosis, Abnormal facial shape |
ORPHA:163971 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Median cleft lip, Sensorineural hearing impairment, Split hand, 2-3 toe syndactyl... |
DECIPHER:46 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy |
|
Round face, Flexion contracture, Craniosynostosis |
OMIM:619076 |
| 8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Abnormality of the dentition, Hypoplasia of the maxill... |
ORPHA:178303 |
| Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Plagiocephaly, Facial asymmetry, Hypertelorism |
ORPHA:459074 |
| Hypomelanosis Of Ito |
|
Syndactyly, Kyphosis, Hand polydactyly, Radial deviation of finger, Scoliosis, Clinodactyly |
OMIM:300337 |
| Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Pectus excavatum, Hypoplasia of t... |
OMIM:212780 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Microtia, Cubitus valgus, Limited pr... |
ORPHA:163654 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, High palate, Bilateral talipes equi... |
OMIM:618142 |
| Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Death in infancy, Single transverse p... |
OMIM:617425 |
| Maternal Uniparental Disomy Of Chromosome 9 |
|
Kyphoscoliosis, Short neck, Patellar dislocation, Osteochondrosis, Abnormal vertebral morphology,... |
ORPHA:96183 |
| Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Myelomeningocele, Abnormal rib morpho... |
ORPHA:2876 |
| 46,Xy Sex Reversal 4 |
|
Distal symphalangism, Anteverted nares, Prominent nose, Micrognathia, Sensorineural hearing impai... |
OMIM:154230 |
| Osteogenesis Imperfecta, Type Vi |
|
Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Biconcave vertebral bodies, Beaki... |
OMIM:613982 |
| Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals |
OMIM:618724 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Frontal bossing, Wide anterior fontanel, Flexion contracture, Humeroradial synostosis, Brachyceph... |
OMIM:207410 |
| White Forelock With Malformations |
|
Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi... |
ORPHA:2475 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Wide nose, Prominent nasal bridge, Microcephaly, Retrognathia, Aplasia/Hypoplasia of the external... |
ORPHA:505237 |
| Caudal Duplication |
|
Myelomeningocele, Spinal cord lesion, Spina bifida |
ORPHA:1756 |
| Atkin-Flaitz Syndrome |
|
Coarse facial features, Abnormality of the dentition, Hypertelorism, Thick vermilion border, Ever... |
ORPHA:1193 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Triangular face, Dental crowding, Joint hypermobility, Joint stiffness, Long nose, Pierre-Robin s... |
OMIM:619184 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Micrognathia, Underdeveloped nasal alae, Abnormal columella morphology, Radioulnar synostosis, Mi... |
ORPHA:436003 |
| Tetramelic Monodactyly |
|
Split foot, Split hand, Foot monodactyly, Hand monodactyly |
OMIM:187510 |
| Coffin-Siris Syndrome 7 |
|
Thin upper lip vermilion, Coarse facial features, Sagittal craniosynostosis, Hypertelorism, Thick... |
OMIM:618027 |
| Chanarin-Dorfman Syndrome |
|
Sensorineural hearing impairment, Microtia |
OMIM:275630 |
| Slc35A2-Cdg |
|
Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metatarsus adductus, Craniosynostos... |
ORPHA:356961 |
| Filippi Syndrome |
|
Wide nasal bridge, Thin vermilion border, Proptosis, Short philtrum, Hypodontia, Microdontia, Ser... |
OMIM:272440 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol... |
ORPHA:3082 |
| Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Micromelia, Short neck, Short thorax, Abnormal rib morphology, Short ... |
ORPHA:93298 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... |
OMIM:271700 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Protruding tongue, Micrognathia, Cupped ear, Simplified gyral pattern, ... |
OMIM:617062 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Small earlobe, Severe periodontitis, Protruding tongue, Deep philtrum, Pre... |
ORPHA:99843 |
| Tarp Syndrome |
|
Posteriorly rotated ears, Single transverse palmar crease, Rocker bottom foot, Postaxial polydact... |
OMIM:311900 |
| Curry-Jones Syndrome |
|
Facial asymmetry, Craniosynostosis, Hypertelorism |
ORPHA:1553 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Short metacarpal, Camptodactyly of finger, Kyphoscoliosis, Tapered fin... |
OMIM:612350 |
| Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum |
OMIM:618732 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Vertebral fusion, Sacral dimple, Hyperextensibility of the finger joints, Overlapping toe, Cranio... |
OMIM:213980 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Short neck, Lateral clavicle hook, Micrognathia, Preaxial polydactyly, Hyp... |
OMIM:617925 |
| Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
| Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Short ... |
OMIM:617895 |
| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
11 pairs of ribs, Hip contracture, Short neck, Metatarsus adductus, Calcaneovalgus deformity, Elb... |
OMIM:616266 |
| Developmental And Epileptic Encephalopathy 31B |
|
Optic atrophy, Gingival overgrowth, Low-set ears, Protruding tongue |
OMIM:620352 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... |
OMIM:268305 |
| Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Sh... |
OMIM:101200 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Hypertelorism, Hypoplasia of the maxilla, Abnormality of the dentition, Brachycephaly, Oligodonti... |
ORPHA:2095 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Protruding tongue, Short neck, Micrognathia, Sensorineural hearing impairment, ... |
OMIM:608779 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Oral mucosal blisters, Congenital pyloric atresia, Microtia, Neonatal death |
OMIM:619817 |
| 14Q11.2 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Short nose, Depressed nasal bridge |
ORPHA:261120 |
| Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Turricephaly, Craniosynostosis |
ORPHA:1496 |
| Thoracopelvic Dysostosis |
|
Short ribs |
OMIM:187770 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| Tatton-Brown-Rahman Syndrome |
|
Everted upper lip vermilion, Round face, Exaggerated cupid's bow, Sagittal craniosynostosis, Hype... |
OMIM:615879 |
| Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Micrognathia, Prominent nose, Underdeveloped nasal alae, Sensorineural hearing impairment, Supern... |
ORPHA:90024 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Turricephaly, Cloverleaf skull, Craniosynostosis, Hypertelorism, Narrow mouth, Narrow palate, Cle... |
ORPHA:1555 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Micrognathia, Microcephaly, Hip dislocation, Atresia of the external auditory canal, Conductive h... |
OMIM:602471 |
| Mohr Syndrome |
|
Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Conductive hearing imp... |
OMIM:252100 |
| Isotretinoin-Like Syndrome |
|
Anteverted nares, Micrognathia, Microcephaly, Aplasia/Hypoplasia of the inner ear, Anotia, Microt... |
ORPHA:2306 |
| Bardet-Biedl Syndrome 19 |
|
Mesoaxial hand polydactyly, Postaxial polydactyly, Postaxial foot polydactyly, Y-shaped metacarpa... |
OMIM:615996 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
| Arthrogryposis, Distal, Type 3 |
|
Lumbar hyperlordosis, Congenital hip dislocation, Thoracolumbar scoliosis, Kyphoscoliosis, Short ... |
OMIM:114300 |
| Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia |
OMIM:207950 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent... |
ORPHA:1350 |
| Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Kyphosis, Wide anterior fontan... |
ORPHA:3098 |
| Buratti-Harel Syndrome |
|
Posteriorly rotated ears, Velopharyngeal insufficiency, Submucous cleft hard palate, Microtia, Hi... |
OMIM:619314 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Furrowed tongue, Low posterior hairline, Abnorma... |
ORPHA:1387 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
| Hennekam-Beemer Syndrome |
|
Wide nose, Camptodactyly of finger, Pneumonia, Micrognathia, Long nose, Microcephaly, Optic atrop... |
ORPHA:2135 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Encephalocele, Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Squar... |
OMIM:616300 |
| Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:2234 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Scoliosis |
OMIM:619091 |
| Meier-Gorlin Syndrome 2 |
|
Abnormal pinna morphology, Underdeveloped nasal alae, Micrognathia, Microcephaly, Patellar aplasi... |
OMIM:613800 |
| Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Occipital encephalocele |
OMIM:617562 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Downturned corners of mouth, Frontal bossing, Craniosynostosis, Micrognathia |
ORPHA:1064 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Short neck, Metaphyseal wi... |
OMIM:224400 |
| Joubert Syndrome 37 |
|
Lumbar hyperlordosis, Posteriorly rotated ears, Postaxial polydactyly, High palate, Low-set ears,... |
OMIM:619185 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Pectus excavatum, Tr... |
ORPHA:957 |
| Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Rib fusion, Supernumerary ribs, Scoliosis, Bifid ribs, Butterfly v... |
ORPHA:50 |
| Bazex-Dupré-Christol Syndrome |
|
Macrotia, Hypoplasia of the ear cartilage |
ORPHA:113 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... |
OMIM:609945 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Aganglionic megacolon, Microcephaly, Wide nasal bridge,... |
OMIM:613603 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, Lumbar scoliosis... |
ORPHA:319675 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Mandibular prognathia, Dental crowding, Sensorineural h... |
ORPHA:435938 |
| Aplasia Cutis Congenita |
|
Spinal dysraphism |
ORPHA:1114 |
| X-Linked Intellectual Disability, Abidi Type |
|
Non-midline cleft lip, Cleft palate, Protruding ear, Scoliosis, Hearing impairment |
ORPHA:85273 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Short neck, Micrognathia, Hemivertebrae, Tibial bowing, Narrow c... |
ORPHA:96334 |
| Chst3-Related Skeletal Dysplasia |
|
Barrel-shaped chest, Delayed eruption of teeth, Short metacarpal, Enlarged joints, Rhizomelia, Ky... |
ORPHA:263463 |
| Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante... |
OMIM:253000 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Short neck, Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the vertebral bod... |
ORPHA:1486 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... |
OMIM:225280 |
| Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Abnormal pelvis bone morphology, Sclerotic scapulae, A... |
ORPHA:166119 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Short nose |
ORPHA:2370 |
| Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Narrow chest, Short phalanx of finger, Broad metacarpa... |
ORPHA:56304 |
| Cog1-Cdg |
|
Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Coxa valga, Rib fusion,... |
ORPHA:263508 |
| Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy... |
OMIM:150250 |
| Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Abnormal autonomic nervous system physiology, Aganglionic megacolon, Atresia of the external audi... |
OMIM:243180 |
| Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Conductive hearing impairment... |
ORPHA:861 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
| Van Maldergem Syndrome 2 |
|
Irregular dentition, Tented upper lip vermilion, Periventricular nodular heterotopia, Micrognathi... |
OMIM:615546 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scolio... |
ORPHA:2180 |
| Abruzzo-Erickson Syndrome |
|
Hearing impairment, Macrotia, Cleft palate, Protruding ear |
OMIM:302905 |
| Acrootoocular Syndrome |
|
Delayed eruption of teeth, Micrognathia, Grayish enamel, Microcephaly, Sensorineural hearing impa... |
ORPHA:2980 |
| Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcane... |
OMIM:215140 |
| Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
| Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Bowing of the long bones, Delayed cranial suture closure, Coxa valga, ... |
ORPHA:2484 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Abnormal rib... |
ORPHA:2522 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Split hand, Abnormality of the ear, Cleft palate, Split foot |
OMIM:183700 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu... |
OMIM:187600 |
| 3Mc Syndrome 2 |
|
Prominence of the premaxilla, Craniosynostosis, Limited elbow movement, Hypertelorism, Cleft uppe... |
OMIM:265050 |
| Mast Cell Sarcoma |
|
Hypoplasia of the ear cartilage |
ORPHA:66661 |
| Bruck Syndrome 1 |
|
Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow flexion contract... |
OMIM:259450 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal radio-ulnar synostosis, Round face, Abnormal spaced incisors, Tarsal synostosis, Microgn... |
ORPHA:363417 |
| Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
| Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Short neck, Hemivertebrae, Hip dislocation, Short 5th finger, S... |
OMIM:615583 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Short nose, Short nasal septum, Hearing impairment |
OMIM:302950 |
| Hamamy Syndrome |
|
Osteopenia, Thin upper lip vermilion, Recurrent fractures, Craniosynostosis, Hypertelorism, Micro... |
OMIM:611174 |
| Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Short nose, Sensorineural hearing impairment |
OMIM:618379 |
| Fetal Akinesia Deformation Sequence 2 |
|
Tented upper lip vermilion, Micrognathia, Cleft palate, High palate, Low-set ears, Broad neck |
OMIM:618388 |
| 3Q29 Microdeletion Syndrome |
|
Dental crowding, Abnormality of the dentition, Tapered finger, Orofacial cleft, High palate, Shor... |
ORPHA:65286 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Iridocyclitis, Chronic mucocutaneous candidiasis, K... |
OMIM:240300 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Sensorineural hearing impairment, Cleft palate, Glossoptosis, Long philtrum |
ORPHA:166100 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin... |
ORPHA:199306 |
| Sheldon-Hall Syndrome |
|
Ulnar deviation of the wrist, Tarsal synostosis, Short neck, Micrognathia, Adducted thumb, Ulnar ... |
ORPHA:1147 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Tapered toe, Tapered finger, Increased nuchal translucency, Rib fusion, Clinodacty... |
ORPHA:544488 |
| Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica... |
ORPHA:1426 |
| Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Underdevel... |
OMIM:616835 |
| Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Coxa vara, Metaphyseal cupping of metacarpals, Thoracic kyphosi... |
OMIM:300232 |
| Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Hemivertebrae, Rib fusion, Supernumerary ribs, Bifid ribs, Scolios... |
OMIM:304050 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Deep philtrum, Cleft palat... |
OMIM:612530 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Tented upper lip vermilion, Hypertelorism, Wide nasal bridge, Cleft palate, Plagiocephaly, Left u... |
OMIM:614749 |
| Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly |
ORPHA:1296 |
| 3Q29 Microduplication Syndrome |
|
Craniosynostosis, Abnormality of the dentition, Deep philtrum, Large fontanelles, Wide nasal brid... |
ORPHA:251038 |
| Dandy-Walker Malformation-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly |
ORPHA:1566 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Epiphyseal dysplasia, Enlarged epiphyses, Sensorineural hearing impairment, Pierre-Robin sequence... |
OMIM:184840 |
| Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Abnormal pinna morphology, De... |
OMIM:618774 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
| Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Short thumb, Postaxial hand polydactyly, Short 5th finger, Short 2nd toe |
OMIM:176305 |
| Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Multiple rib fractures, Micromelia, Short neck, Short thorax, Short f... |
ORPHA:93299 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Micromelia, Proximal placement of thumb, Kyphosis, Abnormality o... |
ORPHA:3121 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... |
OMIM:611134 |
| Cranioectodermal Dysplasia 4 |
|
Frontal bossing, Joint hypermobility, Sagittal craniosynostosis, Thin vermilion border, Taurodont... |
OMIM:614378 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
|
Long toe, Arachnodactyly, Cleft lip, Cleft palate, Low posterior hairline, Large hands, Thoracic ... |
OMIM:300263 |
| Clark-Baraitser Syndrome |
|
Depressed nasal bridge, Anteverted nares, Large earlobe, Low-set ears, Short nose, Low hanging co... |
OMIM:617752 |
| Gorham-Stout Disease |
|
Abnormality of the temporomandibular joint, Osteomyelitis, Torticollis, Abnormal facial skeleton ... |
ORPHA:73 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib morphology, A... |
ORPHA:2021 |
| Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Sensorineural hearing impairment, ... |
ORPHA:1529 |
| Diprosopus |
|
External ear malformation, Non-midline cleft lip, Anencephaly, Cleft palate |
ORPHA:1681 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Frontal bossing, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Carious teeth, ... |
OMIM:259700 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Abnormality... |
ORPHA:3035 |
| Usher Syndrome, Type Ig |
|
Abnormal vestibular function, Sensorineural hearing impairment, Hypoplasia of the nasal bone |
OMIM:606943 |
| Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,... |
OMIM:112350 |
| Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnor... |
ORPHA:1427 |
| Chromosome 10Q26 Deletion Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Congenital hip dislocation, Craniosynostosis, Hypertel... |
OMIM:609625 |
| Distal Triplication 15Q |
|
Craniosynostosis, Micrognathia, Sensorineural hearing impairment, Cupped ear, Microtia, Abnormal ... |
ORPHA:314588 |
| 3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... |
ORPHA:2616 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... |
OMIM:606895 |
| Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Congenital muscular torticollis, Mixed hearing impairment, Short neck, Sensorineural hearing impa... |
OMIM:118100 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal... |
OMIM:144750 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Barrel-shaped chest, Vertebral fusion, Hip contracture, Tarsal synostosis, Multiple pterygia, Sho... |
OMIM:178110 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Pes planus, Syndactyly, Distal lower limb muscle weakness, Scoliosis |
OMIM:615284 |
| Trisomy 8P |
|
Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Microcephaly, Recurrent upper... |
ORPHA:264450 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Micrognathia, Prominent nose, Microcephaly, Bulbous nose, Cupped ear, Depr... |
OMIM:156200 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Pectus excavatum, Thoracic kyphosis, Clinodactyly |
OMIM:619092 |
| 15Q Overgrowth Syndrome |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... |
ORPHA:314585 |
| Joubert Syndrome 16 |
|
Encephalocele, Molar tooth sign on MRI |
OMIM:614465 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Short middle phalanx of the 5th finger, Thoracic kyphoscoliosis, Cutaneous finger syndactyly, Hip... |
OMIM:203550 |
| Whistling Face Syndrome, Recessive Form |
|
Shoulder flexion contracture, Hypertelorism, Micrognathia, Narrow mouth, Whistling appearance, Tr... |
OMIM:277720 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d... |
ORPHA:1275 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Micrognathia, Fused cervical vertebrae, Craniofacial asymmetry, Retrognathia, L... |
ORPHA:1724 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
| Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Posteriorly rotated ears, Cleft lip, Cleft palate, Short philtrum, Ev... |
OMIM:616898 |
| Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI, Hydrocephalus, Anencephaly |
OMIM:614120 |
| Oliver Syndrome |
|
Postaxial hand polydactyly |
OMIM:258200 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... |
ORPHA:2347 |
| Polydactyly, Postaxial, Type A2 |
|
Postaxial hand polydactyly |
OMIM:602085 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Long palm, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of... |
ORPHA:2759 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
| Galloway-Mowat Syndrome |
|
Camptodactyly of finger, Micrognathia, Microcephaly, EEG abnormality, Hypoplasia of the ear carti... |
ORPHA:2065 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
| Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Overlapping toe, Cleft palate, High palate, Scoliosis, Low-set ears, Open mouth |
OMIM:620021 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Coxa v... |
ORPHA:1517 |
| Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Split foot, Split hand, Hand monodactyly |
OMIM:183800 |
| Cleft Palate-Large Ears-Small Head Syndrome |
|
Micrognathia, Gingival overgrowth, Cleft palate, Protruding ear, Macrotia |
ORPHA:2013 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Missing ribs, Bifid distal p... |
ORPHA:97360 |
| Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Single transverse palmar crease, Short nec... |
ORPHA:2332 |
| Cerebrooculonasal Syndrome |
|
U-Shaped upper lip vermilion, Frontal bossing, Craniosynostosis, Proboscis, Hypertelorism, Brachy... |
OMIM:605627 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Ovoid vertebral bodies, ... |
ORPHA:85167 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... |
OMIM:218600 |
| Ritscher-Schinzel Syndrome 2 |
|
Intestinal malrotation, Protruding tongue, Wide anterior fontanel, Low posterior hairline, High p... |
OMIM:300963 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Redundant neck skin, Hydranencephaly, Single transverse palmar crease, Short neck, 2-3 toe syndac... |
OMIM:236500 |
| Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Hyperlordosis, Short neck, Kyphosis, Coxa valga, Sho... |
ORPHA:582 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Abnormality of the dentition, Deep philtrum, Osteoporosis, Brachycephaly, Ankle clonu... |
OMIM:615398 |
| Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, High, narrow palate, Anteriorly placed anus, Oligodontia, Co... |
OMIM:612289 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Short neck, Bowing of the legs, ... |
OMIM:200600 |
| Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... |
OMIM:200610 |
| Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hal... |
ORPHA:280 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Hypertelorism, Wide anterior fontanel, Cleft... |
OMIM:619736 |
| Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Short neck, Bowing of the legs, Pectus carinatum, Abnormal calcification of the carpa... |
OMIM:271665 |
| Kagami-Ogata Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Microtia, Retr... |
OMIM:608149 |
| Weaver Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Micrognathia, Large hands, Talipes equino... |
ORPHA:3447 |
| Fg Syndrome Type 1 |
|
Limited elbow extension and supination, Choanal atresia, Craniosynostosis, Micrognathia, Prominen... |
ORPHA:93932 |
| Treacher Collins Syndrome 4 |
|
Conductive hearing impairment, Cleft palate, Micrognathia |
OMIM:618939 |
| Joubert Syndrome 1 |
|
Optic disc pallor, Protruding tongue, Optic disc coloboma, Occipital myelomeningocele, Macrogloss... |
OMIM:213300 |
| Thomas Syndrome |
|
Hypertelorism, Cleft palate, Cleft upper lip, Dolichocephaly |
ORPHA:3316 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Enlarged joints, Large tarsal bones, Premature osteoa... |
OMIM:215150 |
| Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
| Epiphyseal Dysplasia, Baumann Type |
|
Carpal bone aplasia, Epiphyseal dysplasia, Pes planus, Hypoplasia of the femoral head, Long finge... |
OMIM:610797 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, High palate, Shallow orbits... |
OMIM:182212 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Absent phalangeal crease, Antecubital pt... |
OMIM:618469 |
| Frontonasal Dysplasia 2 |
|
Craniosynostosis, Hypertelorism, Parietal foramina, Conical tooth, Brachycephaly, Wide nasal brid... |
OMIM:613451 |
| Opitz-Kaveggia Syndrome |
|
Dental crowding, Short neck, Micrognathia, Anteriorly placed anus, Simple ear, Cleft upper lip, W... |
OMIM:305450 |
| Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Short neck, Micrognathia, Limited knee fle... |
OMIM:258315 |
| Branchiootic Syndrome 2 |
|
Abnormal pinna morphology, Hearing impairment |
OMIM:120502 |
| Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Postaxial hand polydactyly, Small hand, Abnormal ant... |
ORPHA:952 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... |
OMIM:250220 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Low posterior hairline, Vertebral segm... |
ORPHA:1323 |
| Dermotrichic Syndrome |
|
Short nose, Macrotia, Depressed nasal bridge |
ORPHA:99688 |
| Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Posteriorly rotated ears, Prominent nasal bridge, Bulbous nose, Cupped ear, Short nose |
OMIM:613870 |
| Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Micrognathia, Multiple joint dislocation, Brachycephaly, Knee dislocation, Shoulder d... |
OMIM:245600 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
| Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis |
OMIM:618155 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis |
OMIM:616943 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Hypertelorism, Cleft palate, Plagiocephaly, Downturned corners of mouth, S... |
ORPHA:94066 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Joint dislocation, Joint laxity, Genu recurvatum, Recurrent fractures, Phalangeal dis... |
OMIM:130070 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
| Orofaciodigital Syndrome Xix |
|
Underfolded helix, Cleft soft palate, Accessory oral frenulum, Carious teeth, Cupped ear, Additio... |
OMIM:620107 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Cleft upper lip, Short neck, Cleft palate, Polydactyly, T... |
OMIM:613885 |
| Frontonasal Dysplasia 1 |
|
Median cleft lip, Postaxial hand polydactyly, Anterior basal encephalocele, Widely-spaced maxilla... |
OMIM:136760 |
| 1P31P32 Microdeletion Syndrome |
|
Frontal bossing, Craniosynostosis |
ORPHA:401986 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Short nose, Protruding ear |
ORPHA:1495 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Death in infancy, Subcortical heterotopia, Agyria, Optic nerve hypoplasia, Pachygy... |
OMIM:614643 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Mandibular prognathia, Posteriorly rotated ears, Prominent nose, Broad nasal tip, Microcephaly, M... |
OMIM:614813 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Pierre-Robin sequence, Glossopt... |
OMIM:613604 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion co... |
OMIM:259600 |
| Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Generalized dystonia, Anteverted nares, Prominent nose, Hypsarrhythmia, Knee flexion contracture,... |
OMIM:618076 |
| Facial Paresis, Hereditary Congenital, 3 |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Sensorineural hearing impairm... |
OMIM:614744 |
| Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Genu recurvatum, Single transverse palmar crease, C... |
ORPHA:915 |
| Orofaciodigital Syndrome Iii |
|
Kyphosis, Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot polydac... |
OMIM:258850 |
| Campomelia, Cumming Type |
|
Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal t... |
ORPHA:1318 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Short metatarsal, Spinal canal stenosis, Advanced ossification of carpal bones,... |
OMIM:614613 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Genu varum, Fibula... |
OMIM:602557 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Short neck, Tibial bowing, Irregular vertebral e... |
OMIM:143095 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Short nose |
OMIM:300577 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... |
OMIM:309620 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Cervical ribs |
ORPHA:66630 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, H... |
ORPHA:93307 |
| Cleft Velum |
|
Cleft soft palate, Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insuf... |
ORPHA:99772 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Distal clavicular thinning, Micromelia, Bell-shaped thorax, Trapezoidal vertebr... |
OMIM:600092 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
| Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
| Joubert Syndrome 7 |
|
Encephalocele, Hypoplasia of the brainstem, Molar tooth sign on MRI, Brainstem dysplasia |
OMIM:611560 |
| Arthrogryposis, Distal, Type 5D |
|
Congenital hip dislocation, Limited elbow movement, Hyperlordosis, Short neck, Micrognathia, Limi... |
OMIM:615065 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Frontal bossing, Craniosynostosis, Micrognathia, Narrow mouth, Hypotelorism, Deeply set eye, Doli... |
OMIM:614114 |
| Cerebrofacioarticular Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Bilateral choanal atresia/stenosis, Microcephaly, Wide n... |
ORPHA:314679 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Clinodactyly of the 5th finger, Umbilical hernia, Short foot, Oligodactyly |
OMIM:619758 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin... |
OMIM:276820 |
| Choanal Atresia |
|
Tracheomalacia, Chronic sinusitis, Craniosynostosis |
ORPHA:137914 |
| Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Hypoplasia of ... |
OMIM:613803 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Osteopenia, Frontal bossing, Mandibular prognathia, Recurrent fractures, Hypertelorism, Joint hyp... |
ORPHA:2324 |
| Nablus Mask-Like Facial Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Craniosynostosis, Hypertelorism, Hypoplasia of the max... |
OMIM:608156 |
| Perlman Syndrome |
|
Anteverted nares, Posteriorly rotated ears, Wide nasal bridge, Low-set ears, Thickened helices, S... |
ORPHA:2849 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short ... |
OMIM:183900 |
| Trisomy 8Q |
|
Low-set, posteriorly rotated ears, Short neck, Micrognathia, Non-midline cleft lip, Myelomeningoc... |
ORPHA:1752 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Prominence of the premaxilla, Abnormality of fontanelles, Congenital hip... |
ORPHA:2412 |
| 19P13.12 Microdeletion Syndrome |
|
Craniosynostosis, Hypertelorism, Brachycephaly, Cleft palate, Proptosis, Thin vermilion border, H... |
ORPHA:254346 |
| Ring Chromosome 12 Syndrome |
|
Acne, Microcephaly, Microtia, Symphalangism of the thumb, Low-set ears |
ORPHA:1439 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M... |
OMIM:227270 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Joubert Syndrome 9 |
|
Encephalocele, Molar tooth sign on MRI |
OMIM:612285 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Abnormality of t... |
OMIM:300244 |
| Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Cleft palate, High palat... |
OMIM:246560 |
| Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Short neck, Absent thumb, Short thumb, Ulnar ... |
OMIM:263650 |
| Eiken Syndrome |
|
Broad femoral neck, Persistence of primary teeth, Delayed epiphyseal ossification, Long thumb, Mu... |
OMIM:600002 |
| Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Coarse facial features, Genu recurvatum, Campto... |
ORPHA:137834 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Irregular acetabular roof, Irregular iliac crest, Abnormality of the knee,... |
ORPHA:93316 |
| Ollier Disease |
|
Micromelia, Abnormal cartilage morphology, Multiple enchondromatosis, Platyspondyly, Abnormal met... |
ORPHA:296 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Hypertelorism, Cleft palate, Thin vermilion border, Narrow mouth, Incisor macrodontia, Long philtrum |
OMIM:615502 |
| 17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal vertebral morphology |
ORPHA:261272 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatarsal, Short fo... |
OMIM:190351 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu... |
OMIM:119800 |
| 9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Abnormal tongue morphology, Craniosynostosis |
ORPHA:531151 |
| Orofaciodigital Syndrome Xv |
|
Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Midline notch of uppe... |
OMIM:617127 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
| Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Kyphosis, Abnormal rib ... |
ORPHA:2050 |
| Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Overfolded helix, Abnormal helix morphology, Low-set ears, Short nose |
ORPHA:1913 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Kyphoscoliosis, Flat capital femoral epiphysis, ... |
OMIM:271510 |
| Cardiospondylocarpofacial Syndrome |
|
Abnormal form of the vertebral bodies, Short palm, Failure of eruption of permanent teeth, Synost... |
ORPHA:3238 |
| Agnathia-Otocephaly Complex |
|
Micrognathia, Aglossia, Cleft palate, Holoprosencephaly, Low-set ears, Narrow mouth, Conductive h... |
OMIM:202650 |
| 20P13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Finger syndactyly, Tented upper lip vermilion, Abnormal pinna morpholog... |
ORPHA:313781 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Irregular ver... |
OMIM:271640 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Sacral dimple, Posteriorly rotated ears, Postaxial polydactyly, Abnormality of the dentition, Tap... |
OMIM:300968 |
| Melkersson-Rosenthal Syndrome |
|
Facial palsy, Furrowed tongue |
OMIM:155900 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Cloverleaf skull, Flat occiput, Craniosynostosis, Hypertelorism, Gingival overgrowth... |
OMIM:123790 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Short nose, Uplifted earlobe |
OMIM:300143 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Mandibular prognathia, Genu recurvatum, Brachycephaly, Narrow palate, Short upper l... |
ORPHA:364028 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:1113 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Frontal bossing, Increased bone mineral density, Hypertelorism, Micrognathia, Wide anterior fonta... |
ORPHA:163649 |
| Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Coarse facial features, Hypertelorism, Wide nasal bridge, Downturned co... |
OMIM:618067 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Abnormal pinna morphology, Rhizomelia, Kyphoscoliosis, Short neck, Postaxial polydactyly, Hemiver... |
OMIM:302960 |
| Distal Deletion 10Q |
|
Frontal bossing, Prominent metopic ridge, Thin upper lip vermilion, Craniosynostosis, Micrognathi... |
ORPHA:96148 |
| Larsen-Like Syndrome |
|
Joint dislocation, Kyphoscoliosis, Talipes equinovarus, Radial deviation of the 4th finger, Clino... |
OMIM:608545 |
| Ohdo Syndrome, X-Linked |
|
Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Prominent nose, Bulbous nose, Wid... |
OMIM:300895 |
| Gaucher Disease, Perinatal Lethal |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, Opisthotonus, Microtia, Low... |
OMIM:608013 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Large earlobe, Short nose, Wide nasal bridge, Broad nasal tip |
OMIM:615716 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
| Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Short neck, Clinodactyly, Flattened epiphysis, Genu valgum,... |
OMIM:607131 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Microtia, Micrognathia |
ORPHA:1834 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Protruding tongue, Downturned corners of mouth, Macroglossia, Everted lower lip vermilion, Hearin... |
ORPHA:96147 |
| Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Mic... |
ORPHA:1225 |
| Seckel Syndrome |
|
Narrow face, Abnormal dental enamel morphology, Craniosynostosis, Micrognathia, Tooth agenesis, J... |
ORPHA:808 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
| Dysostosis, Stanescu Type |
|
Persistent open anterior fontanelle, Increased bone mineral density, Abnormal dental enamel morph... |
ORPHA:1798 |
| Tarp Syndrome |
|
Single transverse palmar crease, Glossoptosis, Small earlobe, Low-set, posteriorly rotated ears, ... |
ORPHA:2886 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Craniosynostosis, Cleft palate, Plagiocephaly, Downt... |
ORPHA:457193 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
| Mycophenolate Mofetil Embryopathy |
|
Micrognathia, Anotia, Microtia, Atresia of the external auditory canal, Bifid nose, Hearing impai... |
ORPHA:268249 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Wormian bones, Beaded ribs, Thin ribs, Bell-shaped thorax,... |
OMIM:166210 |
| Warburg-Cinotti Syndrome |
|
Posteriorly rotated ears, Narrow nose, Underdeveloped nasal alae, Ankle flexion contracture, Elbo... |
OMIM:618175 |
| Arthrogryposis, Distal, Type 4 |
|
2-5 finger cutaneous syndactyly, Torticollis, Single transverse palmar crease, Kyphosis, Low post... |
OMIM:609128 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Increased nuchal translucency, Cleft palate, Furrowed tongue, Downturned corners of mouth, Macrog... |
ORPHA:453499 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia involving the nose, Abnormal cranial nerve ... |
ORPHA:990 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, Low-set e... |
OMIM:614069 |
| Vertical Talus, Congenital |
|
Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus |
OMIM:192950 |
| Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... |
OMIM:277590 |
| X-Linked Intellectual Disability, Hedera Type |
|
Pes planus, Calcaneovalgus deformity, Absent Achilles reflex, Scoliosis, Hyporeflexia of upper li... |
ORPHA:93952 |
| Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Syndactyly, Median cleft lip, Bowed forearm bones, Bilateral cleft lip, Single trans... |
OMIM:612651 |
| Moebius Syndrome |
|
Syndactyly, Brachydactyly, Pes planus, Short neck, Micrognathia, Split hand, Abnormal pelvic gird... |
OMIM:157900 |
| Mucopolysaccharidosis, Type Ivb |
|
Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Epiphyseal deformities of tu... |
OMIM:253010 |
| Scarf Syndrome |
|
Coarse facial features, Craniosynostosis, Joint hyperflexibility, Long philtrum, Enamel hypoplasi... |
ORPHA:3134 |
| Pelger-Huet Anomaly |
|
Abnormality of the dentition, Kyphosis, Gingival overgrowth, Upper limb undergrowth, Polydactyly,... |
OMIM:169400 |
| Cousin Syndrome |
|
Posteriorly rotated ears, Dislocation of the femoral head, Micrognathia, Humeroradial synostosis,... |
OMIM:260660 |
| Carpenter Syndrome 1 |
|
Sagittal craniosynostosis, Micrognathia, Lateral displacement of patellae, Hypoplasia of the maxi... |
OMIM:201000 |
| Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
| Ear-Patella-Short Stature Syndrome |
|
Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Craniosynostosis, Micr... |
ORPHA:2554 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Kyphoscoliosis, Missing ribs, Micro... |
OMIM:200980 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han... |
OMIM:164900 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... |
ORPHA:2911 |
| Osteoglophonic Dysplasia |
|
Osteopenia, Frontal bossing, Mandibular prognathia, Cloverleaf skull, Delayed eruption of teeth, ... |
OMIM:166250 |
| Kniest Dysplasia |
|
Hip contracture, Enlarged joints, Rhizomelia, Dumbbell-shaped long bone, Short neck, Pectus excav... |
OMIM:156550 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Mandibular prognathia, Short philtrum, Cleft palate, Protruding ear |
ORPHA:85317 |
| Hypoglossia With Situs Inversus |
|
Micrognathia, High palate, Hypodontia, Low-set ears, Narrow mouth, Microglossia |
OMIM:612776 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Temporomandibular joint ankylosis, Cleft palate, Micrognathia |
ORPHA:141152 |
| Hogue-Janssen Syndrome 2 |
|
Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Hip dysplasia, Scoliosis, Deviat... |
OMIM:616362 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Ankle swelling, Micrognathia, Wrist swelling, Osteolysis involving t... |
OMIM:166300 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Micromelia, Bo... |
OMIM:211350 |
| Chung-Jansen Syndrome |
|
Large earlobe, Short nose, Macrotia, Anteverted nares |
OMIM:617991 |
| Saethre-Chotzen Syndrome |
|
Hypertelorism, Parietal foramina, Long nose, Hypoplasia of the maxilla, Oxycephaly, Cleft of chin... |
OMIM:101400 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Microcephaly, Genu valgum, EEG abnormality, Microtia, Macrocephaly |
OMIM:617798 |
| Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Bilateral conductive hearing impairment, Cl... |
OMIM:216300 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Pectus exca... |
OMIM:618150 |
| Blount Disease |
|
Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the... |
ORPHA:2768 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
| 6P22 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Short neck |
ORPHA:251046 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Bulbous nose, Macrotia, Wide nasal bridge, Short nose |
OMIM:620292 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Bowing of the long bones, Kyphoscoliosis, Pectus excavatum, Hypoplastic ili... |
OMIM:615349 |
| Hypophosphatasia, Infantile |
|
Craniosynostosis, Abnormality of the dentition, Increased susceptibility to fractures, Decreased ... |
OMIM:241500 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Posteriorly rotated ears, Depressed nasal bridge, Microtia, Low-set ears, Malar flattening, Short... |
OMIM:601353 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Low-set ears, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:613443 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... |
OMIM:206900 |
| Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Anterior rib cupping, Short neck, Hypoplasia of the odontoid proces... |
OMIM:258480 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Death in infancy, Micrognathia, Cupped ear, Cleft palate, Narrow mouth |
ORPHA:93946 |
| Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t... |
ORPHA:2496 |
| Rubinstein-Taybi Syndrome 2 |
|
Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High palate, Increas... |
OMIM:613684 |
| Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Abnormal rib morphology, Webbed neck,... |
ORPHA:2167 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Short nose, Macrotia, Anteverted nares, Prominent nasal bridge |
OMIM:300558 |
| Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Dental crowding, Upper limb asymmetry, Protruding ear, High palate, Polydactyly, Clinodactyly of ... |
ORPHA:231140 |
| Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
| Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Abnormal form of the vertebral bodies, Vertebral fusion, Pseudoe... |
OMIM:194190 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Hyperlordosis, Short neck, Symphalangism affecting the phalange... |
ORPHA:710 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Micrognathia, Optic atrophy, Microtia |
ORPHA:3301 |
| Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Aplasia/Hypoplasia o... |
OMIM:224690 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Short nose, Macrotia, Low-set ears |
OMIM:615419 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Short lingual frenulum, Craniosynostosis, Vertical orbital dystopia, Hypertelorism, Plagiocephaly... |
ORPHA:1521 |
| Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand |
ORPHA:3152 |
| Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Prominent metopic ridge, Asymmetric crying face, Craniosynostosis, Hype... |
ORPHA:1272 |
| Banki Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... |
ORPHA:1228 |
| Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, High palate, Conductive hearing impairment, Spina bifida occulta, ... |
OMIM:300373 |
| Microtriplication 11Q24.1 |
|
Attached earlobe, Posteriorly rotated ears, Short neck, Metatarsus adductus, Small hand, Cleft pa... |
ORPHA:289522 |
| Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Spina bifida occulta |
ORPHA:1514 |
| Fetal Valproate Spectrum Disorder |
|
Short nose, Depressed nasal ridge |
ORPHA:1906 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... |
OMIM:272460 |
| Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge |
OMIM:200130 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Micrognathia, Microcephaly, Wide nasal bridge, Microtia, Short nose, Hearing im... |
ORPHA:2282 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Cleft upper lip, ... |
OMIM:236670 |
| 7Q31 Microdeletion Syndrome |
|
Torticollis, Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Hypoplasia of the cochl... |
ORPHA:251061 |
| Distal Deletion 10P |
|
Low-set, posteriorly rotated ears, Short neck, Micrognathia, Hearing abnormality, Non-midline cle... |
ORPHA:1580 |
| Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Rhizomelia, Beaded ribs, Pla... |
OMIM:616229 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Congenital hip dislocation, Hypertelorism, Macroglossia, Wormian bones |
OMIM:614450 |
| Bardet-Biedl Syndrome 16 |
|
Recurrent otitis media, Polydactyly, Hearing impairment |
OMIM:615993 |
| Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Hypoplasia of the premaxilla, Prominent nasal bridge, External ear malform... |
ORPHA:2673 |
| Dysosteosclerosis |
|
Delayed eruption of teeth, Natal tooth, Sclerotic scapulae, Delayed closure of the anterior fonta... |
OMIM:224300 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Prominent nasal bridge, Prominent nose, Microcephaly, Microtia, Enamel hypo... |
OMIM:210720 |
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Coarse facial features, Hypertelorism, Wide nasal bridge, Delayed eruption... |
OMIM:218400 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Trismus, De... |
OMIM:227330 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
Short nose, Prominent nasal bridge, Low-set ears, Broad nasal tip |
OMIM:613544 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Hypertelorism, Narrow mouth, Wide nasal bridge, Gingival overgrowth, R... |
OMIM:235510 |
| Osteogenesis Imperfecta, Type Xviii |
|
Bowing of the long bones, Femoral bowing, Thin ribs, Biconcave vertebral bodies, Wormian bones, U... |
OMIM:617952 |
| X-Linked Hypophosphatemia |
|
Frontal bossing, Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint ... |
ORPHA:89936 |
| Tetrasomy 18P |
|
Low-set, posteriorly rotated ears, Short nose |
ORPHA:3307 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Hearing impairment, Protruding tongue |
OMIM:619580 |
| Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon... |
OMIM:619698 |
| Parietal Foramina 2 |
|
Parietal foramina, Hypertelorism |
OMIM:609597 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
| Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Unilateral cleft palate, Craniosynostosis, Hypertelorism, Hypoplasia of th... |
ORPHA:1299 |
| Intellectual Disability-Short Stature-Hypertelorism Syndrome |
|
Frontal bossing, Long philtrum, Hypoplasia of the zygomatic bone, Hypertelorism |
ORPHA:3074 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Wide nasal bridge, Osteopetrosis, Hypertelorism |
ORPHA:1522 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Joint laxity, Frontal bossing, Persistent open anterior fontanelle, Dental crowding, Hyperteloris... |
OMIM:615539 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... |
OMIM:602418 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Depressed nasal bridge, Microcephaly, Sensorineural hearing impairment, Microtia, Hypoplasia of t... |
OMIM:618500 |
| Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... |
ORPHA:1826 |
| Cranioectodermal Dysplasia 3 |
|
Joint laxity, Frontal bossing, Sagittal craniosynostosis, Micrognathia, Scaphocephaly, Hypoplasia... |
OMIM:614099 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue |
ORPHA:98795 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Joint dislocation, Thoracic scoliosis, Equinus calcaneus, Knee dislocation, Shoulder dislocation,... |
ORPHA:536532 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Pectus carinatum, Tibial bowing, Hypoplastic iliac wing, Abnormal vertebra... |
ORPHA:93315 |
| Shprintzen-Goldberg Syndrome |
|
Osteopenia, Frontal bossing, Camptodactyly of finger, Craniosynostosis, Joint stiffness, Elbow di... |
ORPHA:2462 |
| Cardiospondylocarpofacial Syndrome |
|
Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Fused cervical vertebrae, Pseudoepiphyses, ... |
OMIM:157800 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Accessory oral frenulum, Hamartoma of tongue, Short neck, Micromelia, Aplastic clavicle, Postaxia... |
OMIM:616546 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Oligodontia, Conductive hearing impairment, Cleft soft palate, Gingival overgrow... |
OMIM:616331 |
| Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Cleft upper lip, Short neck, Cleft palate, Webbed neck, C... |
OMIM:244600 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Craniosynostosis, High, narrow palate, Scaphocephaly, De... |
OMIM:616914 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O... |
ORPHA:289176 |
| Mulibrey Nanism |
|
Frontal bossing, Triangular face, Dental crowding, Hypertelorism, Absent frontal sinuses, Enamel ... |
OMIM:253250 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Coarse facial features, Craniosynostosis, Hypertelorism, Hypodontia, Metopic synostosis, Arthrogr... |
OMIM:301056 |
| Barber-Say Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Abnormal pinna morphology, Bulbous nose, Wide nasal ... |
ORPHA:1231 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Everted upper lip vermilion, Camptodactyly of finger, Joint hypermobility, Micrognathia, Hypertel... |
OMIM:619951 |
| Joubert Syndrome 14 |
|
Encephalocele, Tented upper lip vermilion, Posteriorly rotated ears, Postaxial polydactyly, Menin... |
OMIM:614424 |
| Synostoses, Tarsal, Carpal, And Digital |
|
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:186400 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ... |
ORPHA:2251 |
| Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome |
|
Joint laxity, Craniosynostosis, Hypertelorism, Micrognathia, Deeply set eye, Tracheomalacia, Abno... |
ORPHA:412069 |
| Al-Raqad Syndrome |
|
Short nose, Low-set ears |
OMIM:616459 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Short hallux, Abnormal metacarpal morphology, Pes cavus, Abnor... |
ORPHA:3224 |
| Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Micrognathia, Protruding tongue, Low-set ears, Long philtrum |
ORPHA:50945 |
| Branchiootic Syndrome 3 |
|
Branchial cyst, Commissural lip pit, Sensorineural hearing impairment |
OMIM:608389 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Hypoplastic s... |
OMIM:308050 |
| Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Elbow dislocation, Lateral humeral condyle aplasia, Radiouln... |
ORPHA:2741 |
| Angelman Syndrome |
|
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi... |
OMIM:105830 |
| Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... |
ORPHA:2712 |
| Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Hypertelorism, Palate f... |
OMIM:616788 |
| Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Uplifted earlobe, Esophageal atresia, Low posterior hairline, Downturned corne... |
OMIM:618779 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th fing... |
OMIM:274000 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Anteverted nares, Short nose, Macrotia, Hearing impairment |
ORPHA:2701 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
| Distal Symphalangism |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ... |
ORPHA:3248 |
| Anophthalmia Plus Syndrome |
|
Low-set, posteriorly rotated ears, Spina bifida, Non-midline cleft lip, Aplasia/Hypoplasia of the... |
ORPHA:1104 |
| Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Mixed hearing impairment, Thickened helices, Abnormality of the middle... |
ORPHA:581 |
| Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Abnormal rib morphology, Abnormal pelvic girdle bone... |
ORPHA:2097 |
| Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Accessory oral frenulum, Diastema, Conical tooth, Genu valgum, Short philt... |
OMIM:619142 |
| Monosomy 9P |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Micrognathia, Microcephaly, Abnormal a... |
ORPHA:261112 |
| Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Hemivertebrae, Low posterior hairline, Missing ribs |
OMIM:220210 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Micromelia, Short neck, Lateral clavicle hook, ... |
ORPHA:3144 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
| Au-Kline Syndrome |
|
Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate, Clinodactyl... |
OMIM:616580 |
| Pseudoaminopterin Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Orofacial cleft, High palate, Short phil... |
ORPHA:221120 |
| Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro... |
ORPHA:1908 |
| Generalized Arterial Calcification Of Infancy |
|
Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular cartilage, Abnormality... |
ORPHA:51608 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Frontal bossing, Thin upper lip vermilion, Tented upper lip vermilion, Facial asymmetry, Wide nas... |
ORPHA:438216 |
| Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Hearing impairment, Micrognathia... |
OMIM:301043 |
| Marshall Syndrome |
|
Thick upper lip vermilion, Malar flattening, Hypertelorism, Micrognathia, Absent frontal sinuses,... |
OMIM:154780 |
| Pierpont Syndrome |
|
Wide nose, Posteriorly rotated ears, Broad nasal tip, Large fleshy ears, Short nose, Hearing impa... |
OMIM:602342 |
| Distal Monosomy 7Q36 |
|
Short neck, Micrognathia, Non-midline cleft lip, Optic atrophy, Cleft palate, Wide mouth, Holopro... |
ORPHA:1636 |
| Pycnodysostosis |
|
Frontal bossing, Persistent open anterior fontanelle, Increased bone mineral density, Delayed eru... |
OMIM:265800 |
| Hennekam Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Camptodac... |
ORPHA:2136 |
| Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Underdeveloped antitragus, Pyelonephritis, Abnormal antihelix morpholo... |
ORPHA:2036 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
| 3Mc Syndrome |
|
Craniosynostosis, Hypertelorism, Hip dislocation, Orofacial cleft, Downturned corners of mouth, R... |
ORPHA:293843 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Posteriorly rotated ears, Prominent nasal bridge, Underdeveloped nasal alae, Overfolded helix, Ma... |
ORPHA:2083 |
| Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Short neck, Small hand, Abnormal form of the vertebral bodies, Scoliosis, Spin... |
ORPHA:1787 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Thickened helices, Short nose, Hear... |
OMIM:618828 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Protruding tongue, Simplified gyral pattern, Gingival overgrowth, Long philtrum, Pachygyria |
OMIM:619179 |
| Angelman Syndrome Due To A Point Mutation |
|
Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue |
ORPHA:411511 |
| Cat-Eye Syndrome |
|
Abnormal rib morphology |
ORPHA:195 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Anteverted nares, Microcephaly, Bulbous nose, Microtia, Low-set ears, Recurrent otitis media |
ORPHA:261323 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Bowing of the long bones, Micromelia, Anisospondyly, Short long bone, Ta... |
OMIM:224410 |
| Bresek Syndrome |
|
Aganglionic megacolon, Postaxial hand polydactyly, Hemivertebrae, Cleft palate, Protruding ear, S... |
ORPHA:85284 |
| Pendred Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Ectrodactyly, Oligodactyly |
ORPHA:3016 |
| Charlie M Syndrome |
|
Finger syndactyly, Micrognathia, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology,... |
ORPHA:1406 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ... |
ORPHA:352665 |
| Crane-Heise Syndrome |
|
Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Toe syndactyly, Aplastic ... |
ORPHA:1512 |
| Fanconi Anemia, Complementation Group F |
|
Conductive hearing impairment, Microtia, Pneumonia, Microcephaly |
OMIM:603467 |
| 9q subtelomeric deletion syndrome |
|
Protruding tongue |
DECIPHER:52 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pectus excavatum, Small hand, Pectus carinatum, Broad finger, Clinodactyly, Short phalanx of fing... |
OMIM:614684 |
| Osteogenesis Imperfecta, Type X |
|
Multiple rib fractures, Thoracic scoliosis, Short femur, Rhizomelia, Bowing of the long bones, Mi... |
OMIM:613848 |
| Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Sacral dimple, Miscarriage, Short hallux, Prox... |
ORPHA:2438 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Wide nasal bridge, Conjunctivitis, Atresia of the external auditory ca... |
OMIM:106260 |
| Oliver Syndrome |
|
Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Dental malocclusion, Elbow flexio... |
ORPHA:2920 |
| Mosaic Trisomy 16 |
|
Craniofacial asymmetry |
ORPHA:1708 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Brachydactyly, Kyphosis, Abnormality of the elbow, Hip dislocation, Vertebral ... |
ORPHA:1005 |
| Omodysplasia 2 |
|
Short humerus, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Limited elbow flexion/e... |
OMIM:164745 |
| Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Sensorineural hearing impairment, Short toe, Cleft palate, Ulnar deviation of fin... |
ORPHA:921 |
| Periventricular Nodular Heterotopia 9 |
|
Everted upper lip vermilion, Posteriorly rotated ears, Periventricular nodular heterotopia, Hypop... |
OMIM:618918 |
| Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Overfolded helix, Submucous cleft hard palate |
ORPHA:209908 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Recurrent joint dislocation, Craniosynostosis, Hyper... |
ORPHA:2953 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Congenital muscular torticollis, Aplastic clavicle, Abnormalit... |
ORPHA:2538 |
| Kapur-Toriello Syndrome |
|
Bulbous nose, Posteriorly rotated ears, Atresia of the external auditory canal, Low-set ears |
ORPHA:2328 |
| Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Dental crowding, Hypertelorism, Cranial hyperostosis, Sclerosis of skull b... |
OMIM:123000 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Thin upper lip vermilion, Craniosynostosis, Hypertelorism, Contracture of the proximal interphala... |
OMIM:618050 |
| 16P13.11 Microdeletion Syndrome |
|
Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, Microcephaly, Sensorineural he... |
ORPHA:261236 |
| Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Foot polydactyly, Sensorineural hearing impairment, Aganglionic megacolon, Postaxial hand polydac... |
ORPHA:2155 |
| Suleiman-El-Hattab Syndrome |
|
Thin upper lip vermilion, Brachydactyly, Single transverse palmar crease, Clinodactyly, Thick low... |
OMIM:618950 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Multiple joint dislocation, High palate, M... |
ORPHA:536467 |
| Genitopalatocardiac Syndrome |
|
Low-set ears, Micrognathia, Cleft palate, Cleft upper lip |
OMIM:231060 |
| Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Kyphosis, Genu valgum, Broad ribs, Abno... |
ORPHA:583 |
| Benign Samaritan Congenital Myopathy |
|
Hypertelorism, Narrow mouth, Wide nasal bridge, Dolichocephaly |
ORPHA:324581 |
| Cleidocranial Dysplasia |
|
Delayed eruption of teeth, Hypoplastic scapulae, Wormian bones, Down-sloping shoulders, Tapered f... |
ORPHA:1452 |
| Edinburgh Malformation Syndrome |
|
Short nose, Anteverted nares, Choanal atresia, Low-set ears |
ORPHA:1895 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Thin ribs, S... |
OMIM:312150 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Short nose, Thick nasal alae, Posteriorly rotated ears, Low-set ears |
ORPHA:163961 |
| Hajdu-Cheney Syndrome |
|
Kyphoscoliosis, Short neck, Tall lumbar vertebral bodies, Foot acroosteolysis, Osteolytic defects... |
OMIM:102500 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Frontal bossing, Thin upper lip vermilion, Coarse facial features, Hyp... |
ORPHA:884 |
| Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Extra concha fold,... |
OMIM:209885 |
| Faundes-Banka Syndrome |
|
Micrognathia, Underdeveloped nasal alae, Bulbous nose, Cupped ear, Microtia, Long ear, Low-set ea... |
OMIM:619376 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Posteriorly rotated ears, Single transverse palmar crease, Rocker bot... |
OMIM:617527 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Short neck,... |
OMIM:305400 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bodies, Thin rib... |
ORPHA:73230 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Pectus excavatum, Hemivertebrae, Umbilical hernia, Scolio... |
OMIM:104350 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Tracheoesophageal fistula, Microtia, High palate, Low-set ears, Stomati... |
OMIM:277380 |
| Cerebrocostomandibular Syndrome |
|
Death in infancy, Hydranencephaly, Spina bifida, Micrognathia, Myelomeningocele, Meningocele, Cle... |
ORPHA:1393 |
| Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Short neck, Kyphosis, Hand clenching, Hip dysplasia, Talipes equinovarus, Sco... |
OMIM:611890 |
| Monosomy 18P |
|
Short neck, Carious teeth, Micrognathia, Cleft palate, Protruding ear, Downturned corners of mout... |
ORPHA:1598 |
| Meier-Gorlin Syndrome 7 |
|
Choanal atresia, Sagittal craniosynostosis, Craniosynostosis, Aplasia/Hypoplasia of the patella, ... |
OMIM:617063 |
| Seckel Syndrome 5 |
|
Selective tooth agenesis, Abnormal cortical gyration, Micrognathia, Simplified gyral pattern, Cle... |
OMIM:613823 |
| Abcd Syndrome |
|
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... |
OMIM:600501 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Micrognathia, Choanal stenosis, Severe sensorineural hearing impairment, Conductive hearing impai... |
OMIM:620186 |
| Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, A... |
ORPHA:2753 |
| Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Low-set ears, Short nose |
OMIM:610015 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... |
ORPHA:79345 |
| Occipital Horn Syndrome |
|
Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short palm, Large iliac wing, Abnormali... |
ORPHA:198 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Short tubular bones of the hand, Coxa valga, Vertebral arch anomaly, Abnormal diaphysis morpholog... |
ORPHA:85184 |
| Fanconi Anemia, Complementation Group L |
|
Short neck, Micrognathia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft pal... |
OMIM:614083 |
| Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Posteriorly rotated ears, Anteverted nares, Underdeveloped antitragus, Dep... |
OMIM:181270 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of the capital femor... |
ORPHA:77258 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Anterior encephalocele, Foot oligodactyly, Scoliosis, Amelia |
OMIM:601357 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
| Tetraamelia Syndrome 2 |
|
Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Low-set ears, A... |
OMIM:618021 |
| Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
| Down Syndrome |
|
Thickened nuchal skin fold, Redundant neck skin, Aganglionic megacolon, Protruding tongue, Duoden... |
OMIM:190685 |
| Acrocephalopolydactylous Dysplasia |
|
Short nose, Oxycephaly, Craniosynostosis, Hypertelorism |
OMIM:200995 |
| Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Mandibular prognathia, Coarse facial features, Craniosynostosis, Joint ... |
ORPHA:309282 |
| Trisomy 13 |
|
Median cleft lip, Bilateral single transverse palmar creases, Abnormality of the dentition, Kypho... |
ORPHA:3378 |
| Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Deviation of finger, Abno... |
OMIM:269500 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Acrofrontofacionasal Dysostosis 2 |
|
Thickened nuchal skin fold, Syndactyly, Sacral dimple, Redundant neck skin, Broad hallux, Hand po... |
OMIM:239710 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Low-set, posteriorly rotated ears, Small cervical vertebral bodies, Brachydactyly, Abnormal aceta... |
ORPHA:397715 |
| Distal Deletion 12Q |
|
Median cleft lip, Short neck, Micrognathia, High, narrow palate, Supernumerary tooth, Esophageal ... |
ORPHA:96149 |
| Say-Barber-Miller Syndrome |
|
Craniosynostosis, Hypertelorism, Micrognathia, Carious teeth, Hip dislocation, Elbow flexion cont... |
ORPHA:3132 |
| Waardenburg Syndrome, Type 1 |
|
Spina bifida, Congenital sensorineural hearing impairment, Myelomeningocele, Orofacial cleft, Sup... |
OMIM:193500 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... |
ORPHA:1145 |
| Burn-Mckeown Syndrome |
|
Mandibular prognathia, Cleft upper lip, Micrognathia, Cleft palate, Protruding ear, Thin vermilio... |
OMIM:608572 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Posteriorly rotated ears, Hypoplastic philt... |
OMIM:309580 |
| Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Branchial fistula, Micrognathia, Hydrocephalus, Optic disc coloboma, Protr... |
ORPHA:261337 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Abnormal pinna morphology, Anteverted nares, Anteverted ears, Wide nasal bridge, Microtia, Low-se... |
OMIM:617641 |
| Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Prominent nose, Tremor, Microcephaly, Sensorineura... |
OMIM:601808 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Choanal stenosis, Low-set ears, Short ... |
OMIM:619859 |
| Say Syndrome |
|
Macrotia, Cleft palate, Micrognathia |
OMIM:181180 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pect... |
ORPHA:175 |
| Maxillonasal Dysplasia |
|
Depressed nasal bridge, Depressed nasal ridge, Short columella, Abnormal nostril morphology, Shor... |
ORPHA:1248 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Short femur, Fractured radius, Wormian bones, Beaded ribs, Short neck, De... |
OMIM:616897 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology |
ORPHA:2643 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Short nose, Broad nasal tip |
OMIM:613670 |
| Distal Duplication 18Q |
|
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Choanal atresia, Sho... |
ORPHA:1716 |
| Treacher Collins Syndrome 1 |
|
Choanal atresia, Micrognathia, Microtia, Atresia of the external auditory canal, Conductive heari... |
OMIM:154500 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
| Autosomal Dominant Omodysplasia |
|
Frontal bossing, Hypertelorism, Elbow dislocation, Micrognathia, Patellar dislocation, Long philt... |
ORPHA:93328 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Townes-Brocks Syndrome 2 |
|
Overfolded helix, Cupped ear, Microtia |
OMIM:617466 |
| Lymphangiectasia, Intestinal |
|
Prominent floating ribs |
OMIM:152800 |
| Polydactyly, Postaxial, With Progressive Myopia |
|
Postaxial hand polydactyly |
OMIM:174310 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Wide nose, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Micrognathia, Bulb... |
OMIM:613458 |
| Scarf Syndrome |
|
Wide nasal bridge, Coronal craniosynostosis, Lambdoidal craniosynostosis, Long philtrum, Enamel h... |
OMIM:312830 |
| Orofaciodigital Syndrome Type 2 |
|
Protruding ear, Finger clinodactyly, High palate, Conductive hearing impairment, Short tibia, Fin... |
ORPHA:2751 |
| Autosomal Recessive Stickler Syndrome |
|
Epiphyseal dysplasia, Sensorineural hearing impairment, Cleft palate, Genu valgum, Irregular vert... |
ORPHA:250984 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinodactyly of the... |
OMIM:609638 |
| Vacterl Association With Hydrocephalus |
|
Absent thumb, Radial club hand, Stillbirth, Abnormality of the vertebral column, Abnormal vertebr... |
OMIM:276950 |
| Codas Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Midline defect of the... |
ORPHA:1458 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Tongue atrophy, Facial palsy, Sensorineural hearing impairment |
OMIM:158900 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Recurrent fractures, Craniosynostosis |
ORPHA:251004 |
| Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Short neck, Aplasia of the ulna, Mi... |
ORPHA:2879 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Microcephaly, Large earlobe, Hypoplasia of the ea... |
ORPHA:1236 |
| Radio-Renal Syndrome |
|
Micromelia, Short neck, Hypoplasia of the radius, Abnormal rib morphology, Abnormality of the elb... |
ORPHA:3015 |
| Toriello-Carey Syndrome |
|
Aganglionic megacolon, Abnormal pinna morphology, Short neck, Micrognathia, Wide anterior fontane... |
ORPHA:3338 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Thin ribs, S... |
OMIM:253290 |
| Ablepharon Macrostomia Syndrome |
|
Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, Underdeveloped nasal alae, Hyp... |
ORPHA:920 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Hallux valgus, Joint dislocation, Sandal gap, Recurrent shoulder dislocation, Thoracolumbar scoli... |
ORPHA:230851 |
| Craniofacioskeletal Syndrome |
|
Posteriorly rotated ears, Choanal atresia, Micrognathia, Microcephaly, Hypoplastic frontal sinuse... |
OMIM:300712 |
| Bilateral Perisylvian Polymicrogyria |
|
Micrognathia, Protruding tongue, Perisylvian predominant thick cortex pachygyria, Abnormality of ... |
ORPHA:98889 |
| Craniofrontonasal Syndrome |
|
Joint laxity, Frontal bossing, Hypertelorism, Cleft upper lip, Abnormality of the dentition, Brac... |
OMIM:304110 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis involving bones of t... |
ORPHA:371428 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Overfolded helix, Th... |
OMIM:617412 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Joint laxity, Limited elbow extension and supination, Thin upper lip vermilion, Hypertelorism, Wi... |
ORPHA:401935 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger... |
ORPHA:90652 |
| Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Short neck,... |
OMIM:619879 |
| Pallister-Hall Syndrome |
|
Hemivertebrae, Mesoaxial polydactyly, Radial bowing, Rib fusion, Umbilical hernia, Polydactyly af... |
ORPHA:672 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue |
ORPHA:98794 |
| Branchiooculofacial Syndrome |
|
Posteriorly rotated ears, Depressed nasal bridge, Facial palsy, Micrognathia, Broad nasal tip, Mi... |
OMIM:113620 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Bifid uvula, Craniosynostosis, Micrognathia |
OMIM:601374 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Anteverted nares, Bulbous nose, Low-set ears, Hypoplasia of the antihelix, Short nose, Hearing im... |
OMIM:616420 |
| Potocki-Shaffer Syndrome |
|
Short nose, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:601224 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypertelorism, Carious teeth, Cortical thickening of long bone diaphyses, Decreased skull ossific... |
ORPHA:93324 |
| Aase-Smith Syndrome I |
|
Death in infancy, Abnormal pinna morphology, Hydrocephalus, Cleft palate, Open mouth |
OMIM:147800 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hearing impairment, Cleft palate, Cleft upper lip |
OMIM:120433 |
| Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Radioulnar synostosis, Joint contra... |
OMIM:194350 |
| Non-Distal Duplication 13Q |
|
Arachnodactyly, Abnormality of the dentition, Postaxial hand polydactyly, Aplasia/Hypoplasia of t... |
ORPHA:1702 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Posteriorly rotated ears, Depressed nasal bridge, Uplifted earlobe, Micrognathia, Carious teeth, ... |
OMIM:616734 |
| Jackson-Weiss Syndrome |
|
Mandibular prognathia, Frontal bossing, Turricephaly, Hypertelorism, Hypoplasia of the maxilla, P... |
ORPHA:1540 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Frontal bossing, Abnormal facial shape, Craniosynostosis, Micrognathia |
ORPHA:166035 |
| Hydrolethalus |
|
Low-set, posteriorly rotated ears, Micrognathia, Hydrocephalus, Submucous cleft hard palate, Anen... |
ORPHA:2189 |
| Thalidomide Embryopathy |
|
Anotia, Abnormality of the outer ear, Chronic rhinitis, Hearing impairment |
ORPHA:3312 |
| Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Hypertelorism, Open bite, Dental malocclusion,... |
ORPHA:3079 |
| Fg Syndrome 5 |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:300581 |
| Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S... |
OMIM:615503 |
| Holoprosencephaly |
|
Encephalocele, Median cleft lip, Bilateral cleft lip, Short neck, External ear malformation, Deep... |
ORPHA:2162 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Hypertelorism, Cleft palate, Tooth agenesis, High palate, Midface retrusion |
ORPHA:1135 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Sacral dimple, Rocker bottom foot, Proximal placement of thumb, Short neck, Hi... |
OMIM:619762 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Micrognathia, Kyphosis, Tibial bowing, Thin ribs, Slender long bone, Scolios... |
OMIM:259420 |
| Braddock-Carey Syndrome 1 |
|
Posteriorly rotated ears, Hyperlordosis, Clinodactyly, Pierre-Robin sequence, Small hand, Cleft p... |
OMIM:619980 |
| Ivic Syndrome |
|
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... |
ORPHA:2307 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, Abnormal Eustachian tube mo... |
ORPHA:513456 |
| Craniometadiaphyseal Dysplasia |
|
Natal tooth, Broad long bones, Coxa valga, Flared metaphysis, Genu valgum, Broad ribs, Scoliosis,... |
OMIM:269300 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Long face, Thin upper lip vermilion, Craniosynostosis, Hypertelorism, Micrognathia, Narrow mouth,... |
OMIM:309590 |
| Joubert Syndrome 20 |
|
4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
| Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Arachnodactyly, Short neck, Calcaneovalgus deformity, Adducted thumb, Talipes equinovarus, Scolio... |
ORPHA:562528 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia, Sacrococcygeal teratoma |
ORPHA:1757 |
| Blepharonasofacial Malformation Syndrome |
|
External ear malformation, Non-midline cleft lip, Optic atrophy, Cleft palate, Low posterior hair... |
ORPHA:1252 |
| Diamond-Blackfan Anemia 11 |
|
Radioulnar synostosis, Stenosis of the external auditory canal, Atresia of the external auditory ... |
OMIM:614900 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Microretrognathia, Macrocephaly at birth, Anteverted nares, Tremor, Large fleshy ears, Athetosis,... |
ORPHA:280633 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Long face, Frontal bossing, Coarse facial features, Cloverleaf skull, Limited elbow movement, Cra... |
ORPHA:508533 |
| Vacterl With Hydrocephalus |
|
Microtia, third degree, Micrognathia, Hip dislocation, Anotia, Retrognathia, Abnormality of the o... |
ORPHA:3412 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Short nose, Posteriorly rotated ears |
OMIM:300887 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
| Pde4D Haploinsufficiency Syndrome |
|
Short metacarpal, Broad hallux, Short toe, Caudal interpedicular narrowing, Short metatarsal, Upp... |
ORPHA:439822 |
| Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Prominent nasal tip, Torticollis, Relative macrocephaly, Microcephaly, Wid... |
OMIM:618371 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Wide nose, Papilledema, Camptodactyly of finger, Sensorineural hearing impairment, ... |
ORPHA:217085 |
| Mucolipidosis Ii Alpha/Beta |
|
Metaphyseal widening, Death in childhood, Thoracolumbar kyphoscoliosis, Hypoplasia of the odontoi... |
OMIM:252500 |
| Czeizel-Losonci Syndrome |
|
Thickened nuchal skin fold, Hitchhiker thumb, Single transverse palmar crease, Thoracolumbar scol... |
ORPHA:2437 |
| 3Mc Syndrome 1 |
|
Dental crowding, Hypertelorism, Cleft upper lip, Wide anterior fontanel, Cleft lip, Cleft palate,... |
OMIM:257920 |
| Van Esch-O'Driscoll Syndrome |
|
Depressed nasal bridge, Microcephaly, Protruding ear, Microtia, Short nose, Retrognathia |
OMIM:301030 |
| Noonan Syndrome 3 |
|
Frontal bossing, Sagittal craniosynostosis, Hypertelorism, Scaphocephaly, High palate, Dolichocep... |
OMIM:609942 |
| Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Postaxial hand polydactyly |
OMIM:615937 |
| Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
| Cerebrooculonasal Syndrome |
|
Low-set, posteriorly rotated ears, Postaxial hand polydactyly, Abnormal tragus morphology, High p... |
ORPHA:66625 |
| Zttk Syndrome |
|
Craniosynostosis, Kyphosis, Rib fusion, Hemivertebrae, Small hand, Short foot, Cervical ribs, Sco... |
OMIM:617140 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Frontal bossing, Congenital hip dislocation, Triangular face, Hypertelorism, Large fo... |
OMIM:612940 |
| Retinitis Pigmentosa 89 |
|
Esophageal varix, Postaxial polydactyly |
OMIM:618955 |
| 7Q11.23 Microduplication Syndrome |
|
Thin upper lip vermilion, Round face, Short lingual frenulum, Asymmetric crying face, Craniosynos... |
ORPHA:96121 |
| 15q26 overgrowth syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Craniosynostosis, Micrognathia, Facial asymmetry,... |
DECIPHER:81 |
| Mucopolysaccharidosis Type 2 |
|
Otosclerosis, Wide nose, Papilledema, Decreased nerve conduction velocity, Sensorineural hearing ... |
ORPHA:580 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent metopic ridge, Tented upper lip vermilion, Exaggerated cupid's bow, Hypertelorism, Abno... |
ORPHA:364577 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Broad nasal tip, Recurrent upper respiratory tract infections, Abnormality of the ear, Prominent ... |
ORPHA:391372 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Short ear, Wide nose, Anteverted nares, Bulbous nose, Mesiodens, Macrocephaly, Intention tremor |
ORPHA:314647 |
| Polydactyly, Postaxial, Type A7 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... |
OMIM:617642 |
| Frontorhiny |
|
Low-set, posteriorly rotated ears, Encephalocele, Hypoplasia of the maxilla, Cleft palate, Basal ... |
ORPHA:391474 |
| Peripheral Dysostosis |
|
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
| Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Mandibular prognathia, Hypertelorism, Large fontanelles, Wide nasal bridge, Genu valgum, Joint hy... |
ORPHA:1778 |
| Donnai-Barrow Syndrome |
|
Posteriorly rotated ears, Short nose, Depressed nasal bridge, Sensorineural hearing impairment |
ORPHA:2143 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Median cleft lip, Toe syndactyly, Micromelia, Postaxial hand polydactyly... |
OMIM:241800 |
| Martsolf Syndrome 1 |
|
Thoracic scoliosis, Lumbar hyperlordosis, Short metacarpal, Pectus excavatum, Metatarsus adductus... |
OMIM:212720 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Wide nose, Papilledema, Camptodactyly of finger, Sensorineural hearing impairment, ... |
ORPHA:217093 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Depressed nasal bridge, Bulbous nose, Protruding ear, Abnormal antihelix morphology, Short nose |
ORPHA:261144 |
| Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Abnormal clavicle morphology, Finger syndactyly, Camptodactyly of fing... |
ORPHA:568 |
| Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, ... |
OMIM:603671 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Wide nasal bridge, Lo... |
OMIM:616430 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Posteriorly rotated ears, Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Cleft pal... |
OMIM:607597 |
| Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Abnormal f... |
ORPHA:2769 |
| Qazi-Markouizos Syndrome |
|
Pectus excavatum, Torticollis, Delayed ossification of carpal bones, Tapered finger |
ORPHA:3010 |
| Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse... |
OMIM:607323 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlargement of the costochondra... |
OMIM:600081 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Frontal bossing, Hypertelorism, Hypoplasia of the maxilla, Carious tee... |
ORPHA:50814 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hyperlordosis, Abnormal rib morphology, Pectus carinatum, Abnormal hip bone morphology, Clinodact... |
ORPHA:3068 |
| Angelman Syndrome |
|
Mandibular prognathia, Optic disc pallor, Protruding tongue, Optic atrophy, Wide mouth, Widely sp... |
ORPHA:72 |
| Trisomy 12P |
|
Turricephaly, Hypertelorism, Micrognathia, Wide nasal bridge, Cleft palate, Downturned corners of... |
ORPHA:1699 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| C Syndrome |
|
Short metacarpal, Toe syndactyly, Posteriorly rotated ears, Accessory oral frenulum, Micromelia, ... |
OMIM:211750 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Congenital muscular torticollis, Prominent metopic ridge, Arachnodactyly, Long... |
ORPHA:2215 |
| Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Brachydactyly, Pectus excavatum, Small hand, Webbed neck, Short palm, Clinodac... |
ORPHA:1786 |
| Pfeiffer Syndrome Type 2 |
|
Depressed nasal bridge, Choanal atresia, Atresia of the external auditory canal, Low-set ears, Ma... |
ORPHA:93259 |
| Seckel Syndrome 1 |
|
11 pairs of ribs, Ivory epiphyses, Pes planus, Sandal gap, Abnormal finger flexion crease, Single... |
OMIM:210600 |
| Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Genu valgum, Macrodontia of permane... |
OMIM:216550 |
| Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
| Bardet-Biedl Syndrome 1 |
|
Syndactyly, Brachydactyly, Dental crowding, Aganglionic megacolon, Postaxial polydactyly, High, n... |
OMIM:209900 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac... |
ORPHA:536471 |
| Kagami-Ogata Syndrome |
|
Depressed nasal bridge, Microtia, Anteverted nares, Micrognathia |
ORPHA:254519 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Pectus excavatum, Pes planus, Calcaneovalgus deformity, Genu recurvatum |
OMIM:225320 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Frontal bossing, Thick vermilion border, Craniosynostosis, Micrognathia |
OMIM:250410 |
| Cranioectodermal Dysplasia 2 |
|
Joint laxity, Frontal bossing, Cloverleaf skull, Craniosynostosis, Hypertelorism, Micrognathia, W... |
OMIM:613610 |
| Opitz Gbbb Syndrome |
|
Natal tooth, Prominent metopic ridge, Craniosynostosis, Hypertelorism, Micrognathia, Cleft lip, L... |
ORPHA:2745 |
| Melanocytic Nevus Syndrome, Congenital |
|
Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip |
OMIM:137550 |
| 1P36 Deletion Syndrome |
|
11 pairs of ribs, Camptodactyly of finger, Kyphosis, Rib fusion, Spinal canal stenosis, Short foo... |
ORPHA:1606 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, Posterior helix pit, Exa... |
OMIM:312870 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Hearing abnormali... |
ORPHA:2031 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
| Fetal Hydantoin Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Hearing abnormality, Depressed nasa... |
ORPHA:1912 |
| Carpenter Syndrome 2 |
|
Single transverse palmar crease, Short neck, High, narrow palate, Preaxial polydactyly, Coxa vara... |
OMIM:614976 |
| Diamond-Blackfan Anemia 7 |
|
Choanal atresia, Atresia of the external auditory canal, Esophagitis, Recurrent otitis media, Hea... |
OMIM:612562 |
| Zimmermann-Laband Syndrome |
|
Short neck, Micrognathia, Supernumerary tooth, Sensorineural hearing impairment, Gingival fibroma... |
ORPHA:3473 |
| Non-Syndromic Metopic Craniosynostosis |
|
Trigonocephaly, Wide nasal bridge, Hypotelorism |
ORPHA:3366 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
| Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... |
OMIM:600373 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Glossoptosis, Abnormally ossified vertebrae, Lumba... |
ORPHA:94068 |
| 2Q31.1 Microdeletion Syndrome |
|
Short neck, Micrognathia, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, C... |
ORPHA:251014 |
| Pediatric-Onset Graves Disease |
|
Small anterior fontanelle, Proptosis, Craniosynostosis |
ORPHA:525731 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Accessory oral frenulum, Postaxial polydactyly, Supernumerary tooth, Postaxial ... |
OMIM:617088 |
| Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Narr... |
OMIM:600920 |
| Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Protruding tongue, Micrognathia, Gingival overgrowth, High palate, Mi... |
OMIM:619777 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the philtrum, Cleft upper lip, Abnormality of the ear, Cleft palate, Palmoplantar ... |
OMIM:225060 |
| Toluene Embryopathy |
|
Short nose, Low-set ears, Protruding ear |
ORPHA:1920 |
| Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Depressed nasal bridge, Narrow naris, Sensorineural hearing impairment |
OMIM:122880 |
| Silver-Russell Syndrome |
|
Sandal gap, Micrognathia, Lower limb asymmetry, Upper limb asymmetry, Abnormal appendicular skele... |
ORPHA:813 |
| Roberts Syndrome |
|
Progressive flexion contractures, Craniosynostosis, Hypertelorism, Micrognathia, Cleft upper lip,... |
ORPHA:3103 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Thin upper lip vermilion, Branchial fistula, High, narrow palate, Pyloric stenosis, Sensorineural... |
ORPHA:261330 |
| Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... |
ORPHA:2970 |
| Cornelia De Lange Syndrome |
|
Delayed eruption of teeth, Toe syndactyly, Abnormal morphology of ulna, Micromelia, Short neck, P... |
ORPHA:199 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Abnormal pinna morphology, Choanal atresia, Absent tragus, Dental mal... |
OMIM:603457 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Microretrognathia, Prominent metopic ridge, Multiple joint contractures, Camptodactyly of finger,... |
ORPHA:468631 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Abnormal pinna morphology, Short neck, Sensorineural hearing impairment, Cupped ear, Optic disc c... |
ORPHA:52055 |
| Miller-Dieker Syndrome |
|
Short nose, Anteverted nares |
ORPHA:531 |
| Frontonasal Dysplasia 3 |
|
Wide nasal bridge, Brachycephaly, Cleft palate, Hypertelorism |
OMIM:613456 |
| Marshall-Smith Syndrome |
|
Irregular dentition, Large sternal ossification centers, Glossoptosis, Short philtrum, High palat... |
OMIM:602535 |
| Acromicric Dysplasia |
|
Bulbous nose, Anteverted nares, Short nose |
ORPHA:969 |
| Fountain Syndrome |
|
Spina bifida occulta, Short stature, Spina bifida |
ORPHA:3219 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Depressed nasal bridge, Anteverted nares, Underfolded helix, Prominent nose, Posteriorly rotated ... |
OMIM:618316 |
| Peho-Like Syndrome |
|
Short nose |
OMIM:617507 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Phocomelia, Vertebral segmentation defect, Split hand, Foot polydactyly |
ORPHA:3004 |
| Degcags Syndrome |
|
Jejunal atresia, Posteriorly rotated ears, Hearing impairment, Protruding tongue, Hiatus hernia, ... |
OMIM:619488 |
| Gm1-Gangliosidosis, Type Ii |
|
Protruding tongue, Optic atrophy, Gingival overgrowth, Narrow mouth |
OMIM:230600 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Pyloric stenosis, Small hand, Cleft palate, Short foot, High palate, Short philtrum, Scoliosis, N... |
ORPHA:96184 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Bulbous nose, Short nose, Hear... |
ORPHA:284169 |
| Nance-Horan Syndrome |
|
Narrow face, Diastema, Mulberry molar, Supernumerary maxillary incisor, Screwdriver-shaped inciso... |
OMIM:302350 |
| Solar Urticaria |
|
Vertigo, Abnormal lip morphology, Abnormal tongue morphology |
ORPHA:97230 |
| Stickler Syndrome, Type I |
|
Arachnodactyly, Kyphosis, Sensorineural hearing impairment, Submucous cleft hard palate, Pierre-R... |
OMIM:108300 |
| Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Thin ribs, ... |
OMIM:610915 |
| Cleidocranial Dysplasia 2 |
|
Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delayed ossificat... |
OMIM:620099 |
| Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Anteverted nares, Abnormal pinna morphology, Long nose, Bulbous nose, Absent nasal bridge, Low-se... |
ORPHA:261211 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Thin upper lip vermilion, Craniosynostosis, Hypertelorism, Abnormality of the dentiti... |
ORPHA:363611 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Posteriorly rotated ears, Choanal atresia, Underdeveloped nasal alae, Microcephaly, Broad skull, ... |
ORPHA:163979 |
| Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
| Hartsfield Syndrome |
|
Median cleft lip, Craniosynostosis, Cleft upper lip, Hypertelorism, Cleft palate, Hypotelorism, H... |
OMIM:615465 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Micrognathia, Wrist swelling, Slender long bone, Metacarpal osteolysis, ... |
ORPHA:2774 |
| Iniencephaly |
|
Encephalocele, Rhizomelia, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dys... |
ORPHA:63259 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Large earlobe, Polydactyly, Smooth philtrum, Syndactyly |
OMIM:602501 |
| Diamond-Blackfan Anemia 8 |
|
Short nose, Wide nasal bridge |
OMIM:612563 |
| Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Postaxial hand polydactyl... |
ORPHA:2752 |
| Baker-Gordon Syndrome |
|
Prominent nasal tip, Short nose |
OMIM:618218 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Abnormality of the vert... |
OMIM:314390 |
| Marshall Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Brachycephaly, High palate, Thick upper ... |
ORPHA:560 |
| Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Recurrent f... |
ORPHA:1782 |
| Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... |
OMIM:140000 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of the temporomandibular joint, Facial palsy, Protruding tongue, Macroglossia, Lissen... |
ORPHA:258 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Tented upper lip vermilion, Exaggerated cupid's bow, Craniosynostosis, Micrognathia, ... |
ORPHA:369837 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Death in infancy |
OMIM:614876 |
| Trichothiodystrophy |
|
Osteopenia, Joint dislocation, Increased bone mineral density, Multiple joint contractures, Coars... |
ORPHA:33364 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Bowing of the legs, Osteoarthritis, Spinal canal stenosis, Trapezoi... |
OMIM:307800 |
| Alagille Syndrome |
|
Hypoplasia of the ulna, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:52 |
| Otofaciocervical Syndrome 1 |
|
Mixed hearing impairment, Hypoplasia of the cochlea, Cupped ear, Conductive hearing impairment, N... |
OMIM:166780 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Short neck, Lobulated tongue, Syndactyly, Cleft upper lip, Postaxial foo... |
OMIM:249000 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Depressed nasal bridge, Craniosynostosis, Micrognathia, Microcephaly, Depressed nasal tip, Microt... |
OMIM:620005 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of the knee, Lumbar hyperlordosis, Broad hallux, Short neck, Micrognathia, Slender fi... |
ORPHA:251028 |
| Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
| Triploidy |
|
Low-set, posteriorly rotated ears, Intestinal malrotation, Short neck, Micrognathia, Non-midline ... |
ORPHA:3376 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Palmoplantar keratoderma |
OMIM:613576 |
| Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia of the odontoi... |
OMIM:250250 |
| Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
| Axenfeld-Rieger Syndrome |
|
Hypertelorism, Hypoplasia of the maxilla, Wide nasal bridge, Everted lower lip vermilion, Hypodon... |
ORPHA:782 |
| Craniolenticulosutural Dysplasia |
|
Osteopenia, Frontal bossing, Joint laxity, Delayed eruption of teeth, Thin upper lip vermilion, D... |
OMIM:607812 |
| Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia... |
OMIM:613390 |
| Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:611936 |
| Six2-Related Frontonasal Dysplasia |
|
Frontal bossing, Absent/hypoplastic paranasal sinuses, Hypertelorism, Wide anterior fontanel, Pre... |
ORPHA:488437 |
| Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux, Stillbirth |
OMIM:263630 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short neck, Micrognathia, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:304120 |
| Stickler Syndrome Type 1 |
|
Short nose, Sensorineural hearing impairment |
ORPHA:90653 |
| Loeys-Dietz Syndrome |
|
Joint dislocation, Camptodactyly of finger, Craniosynostosis, Hypertelorism, Micrognathia, Orofac... |
ORPHA:60030 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology |
ORPHA:2772 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Short neck, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Low p... |
OMIM:610442 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... |
OMIM:620135 |
| Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Abnormal rib cage morphology, Hand polydactyly, Talipes equinovarus, S... |
OMIM:217100 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly, Death in infancy |
OMIM:226700 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb |
ORPHA:2091 |
| Cranioectodermal Dysplasia 1 |
|
Joint laxity, Frontal bossing, Sagittal craniosynostosis, High, narrow palate, Scaphocephaly, Ost... |
OMIM:218330 |
| Vacterl/Vater Association |
|
Finger syndactyly, Occipital encephalocele, Abnormal intervertebral disk morphology, Preaxial han... |
ORPHA:887 |
| Curry-Jones Syndrome |
|
Lip pit, Unicoronal synostosis, Wormian bones, Bicoronal synostosis, Facial asymmetry |
OMIM:601707 |
| Mosaic Trisomy 8 |
|
Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Narrow pelvis bon... |
ORPHA:96061 |
| Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overlapping fingers, Stiff neck, Torticollis, Short neck, Femoral bowing, Sho... |
OMIM:617022 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
| Joubert Syndrome 8 |
|
Molar tooth sign on MRI, Occipital encephalocele |
OMIM:612291 |
| Waardenburg Syndrome, Type 3 |
|
Scapular winging, Camptodactyly of finger, Cutaneous finger syndactyly, Carpal synostosis, Clinod... |
OMIM:148820 |
| 3C Syndrome |
|
Finger syndactyly, Death in infancy, Missing ribs, Short neck, Kyphosis, Hemivertebrae, Hand poly... |
ORPHA:7 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand |
OMIM:603543 |
| Genitopalatocardiac Syndrome |
|
Kyphosis, Non-midline cleft lip, Postaxial hand polydactyly, Cleft palate, Downturned corners of ... |
ORPHA:2075 |
| Melnick-Needles Syndrome |
|
Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, Narrow chest, Cone-shaped ... |
OMIM:309350 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Cleft soft palate, Uplifted earlobe, Increased nuchal translucency, Pie... |
OMIM:620183 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Short nose, Anteverted nares, Overfolded helix, Low-set ears |
OMIM:613735 |
| Myhre Syndrome |
|
Mandibular prognathia, Vertebral fusion, Prominent nasal bridge, Microcephaly, Hypoplasia of the ... |
OMIM:139210 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Hydrocephalus, Molar tooth sign on MRI, Dextrocardia |
ORPHA:220493 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Sprengel anomaly, Cervical ribs, Thoracolumbar scoliosis |
OMIM:601389 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Underdeveloped nasal alae, Lo... |
OMIM:615866 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Split hand, Abnormal rib morphology, Popliteal pterygium, Scol... |
ORPHA:1300 |
| Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Hypertelorism, Thick lower lip vermilion, Dental malo... |
OMIM:157980 |
| Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Growth delay, Molar tooth sign on MRI |
OMIM:216360 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Hydrocephalus, Intrauterine growth retardation, Cardiomegaly |
ORPHA:858 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Depressed nasal bridge, Posteriorly rotated ears, Bulbous nose, Low-set ears, Short nose |
OMIM:618430 |
| Grange Syndrome |
|
Syndactyly, Short palm |
ORPHA:79094 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Amelia |
OMIM:601163 |
| Adnp Syndrome |
|
Depressed nasal bridge, Microcephaly, Recurrent upper respiratory tract infections, Protruding ea... |
ORPHA:404448 |
| Lacrimoauriculodentodigital Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormal dental enamel morphology, Choanal a... |
ORPHA:2363 |
| Campomelic Dysplasia |
|
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Delayed epiphyseal ossification, P... |
OMIM:114290 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus, Molar tooth sign on MRI |
ORPHA:2318 |
| Faciocardiorenal Syndrome |
|
Hypertelorism, Wide nasal bridge, Cleft palate, Plagiocephaly, Hypodontia, Narrow mouth, Smooth p... |
ORPHA:1973 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Arachnodactyly, Kyphoscoliosis, Pectus excavatum, Metatarsus adductus, Calcaneovalgus deformity, ... |
OMIM:612513 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ... |
ORPHA:2256 |
| Schizophrenia 1 |
|
Syndactyly, Short proximal phalanx of the 4th toe |
OMIM:181510 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Abnormal pinna morphology, Recurrent upper respiratory tract infections, Short nose, Macrotia, Pr... |
ORPHA:3078 |
| Shwachman-Diamond Syndrome 1 |
|
Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal sclerosis, Enlargement of the costochon... |
OMIM:260400 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Frontal bossing, Prominent metopic ridge, Craniosynostosis, Hypertelorism, Micrognath... |
OMIM:266920 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Protruding tongue |
OMIM:614325 |
| Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Clinodactyly, Short finger |
OMIM:300049 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Posteriorly rotated ears, Facial palsy, Micrognathia, High, narrow pal... |
ORPHA:2780 |
| Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
| Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Anterior wedging of L... |
OMIM:253200 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Short neck, Kyphosis, Scoliosis, Synostosis of carpal bones, Bilateral single transverse palmar c... |
ORPHA:3191 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Short nose, Depressed nasal bridge, Low-set ears |
OMIM:608776 |
| Kapur-Toriello Syndrome |
|
Intestinal malrotation, Single transverse palmar crease, Cleft upper lip, Short neck, Short thumb... |
OMIM:244300 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Talipes equinovarus |
OMIM:620306 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Scapular winging, Short metacarpal, Toe syndactyly, Persistence of primary teeth, Short metatarsa... |
OMIM:170390 |
| Arterial Tortuosity Syndrome |
|
Long face, Craniosynostosis, Hypertelorism, Abnormal zygomatic bone morphology, Hip dislocation, ... |
ORPHA:3342 |
| Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Sensorineural hearing impairment, Short phi... |
ORPHA:3241 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Short nose, Depressed nasal bridge, Low-set ears, Bilateral conductive hearing impairment |
OMIM:617802 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Hydrocephalus, Molar tooth sign on MRI |
ORPHA:220497 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
| Grant Syndrome |
|
Wormian bones, Micrognathia, Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Short nose |
ORPHA:2429 |
| Joubert Syndrome 2 |
|
Encephalocele, Brainstem dysplasia, Hydrocephalus, Hypoplasia of the brainstem, Molar tooth sign ... |
OMIM:608091 |
| Hurler Syndrome |
|
Abnormal clavicle morphology, Death in infancy, Camptodactyly of finger, Short neck, Abnormality ... |
ORPHA:93473 |
| Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis |
OMIM:252900 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia, Simplified gyral pattern |
OMIM:616540 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Opitz Gbbb Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Cleft upper lip, Rectourethral fistula, Wide ... |
OMIM:300000 |
| Congenital Disorder Of Glycosylation, Type 2V |
|
Thin upper lip vermilion, Cleft palate, Protruding ear, Low posterior hairline, Thick vermilion b... |
OMIM:619493 |
| Menke-Hennekam Syndrome 1 |
|
Short ear, Prominent inferior crus of antihelix, Narrow nasal bridge, Anteverted nares, Depressed... |
OMIM:618332 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Pectus excavatum, Kyphosis, Asymmetry of the thorax, Scoliosis, Genu varum |
ORPHA:1969 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Thin upper lip vermilion, Posteriorly rotated ears, Wide mouth, Prominent antihelix, Branchial an... |
ORPHA:466950 |
| Charge Syndrome |
|
Low-set, posteriorly rotated ears, Delayed eruption of teeth, Depressed nasal bridge, Choanal atr... |
ORPHA:138 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
| Dend Syndrome |
|
Short nose, Anteverted nares, Thickened ears |
ORPHA:79134 |
| Acrocallosal Syndrome |
|
Wide anterior fontanel, Sensorineural hearing impairment, Postaxial hand polydactyly, Triphalange... |
ORPHA:36 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose |
ORPHA:2598 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Posteriorly rotated ears, Cleft soft palate, Abnormality of the dentition, Micrognathia, Gingival... |
OMIM:618529 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Narrow face, Craniosynostosis, Hypertelorism, Micrognathia, Wide anter... |
ORPHA:235 |
| Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Hamartoma of tongue, Cleft upper lip, Supernume... |
OMIM:311200 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook, Early ossification of capital fe... |
OMIM:208500 |
| X-Linked Dystonia-Parkinsonism |
|
Protruding tongue |
ORPHA:53351 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Delayed eruption of teeth, Short metacarpal, Brachydactyly, Neonatal epiphyseal stippling, Short ... |
OMIM:101800 |
| Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
| Ectrodactyly-Polydactyly |
|
Split hand, Postaxial hand polydactyly, Split foot |
OMIM:225290 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Short neck, Metaphyseal widening, Irregular vertebral endplates, Metaphyseal chondromatosis of ra... |
ORPHA:99646 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Cleft palate, Short 5th finger, Polydactyly, Low-set ears, Ectrodactyly, Clinodactyly... |
ORPHA:397590 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Sensorineural hearing impairment, Postaxial polydactyly |
OMIM:615824 |
| Short Syndrome |
|
Triangular face, Abnormal dental enamel morphology, Hypertelorism, Abnormality of the dentition, ... |
ORPHA:3163 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Short nose, Anteverted nares |
ORPHA:1185 |
| Acrofacial Dysostosis 1, Nager Type |
|
Posteriorly rotated ears, Prominent nasal bridge, Aganglionic megacolon, Micrognathia, Microcepha... |
OMIM:154400 |
| Mucolipidosis Type Ii |
|
Hip contracture, Prominent metopic ridge, Coarse facial features, Craniosynostosis, Limited wrist... |
ORPHA:576 |
| Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Toe syndactyly... |
ORPHA:959 |
| Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... |
OMIM:603194 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Syndactyly, Broad clavicles, Aplasia/Hypoplasia of the m... |
OMIM:151050 |
| Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Malrotation of colon, Abnormal ossification involving the femoral head a... |
ORPHA:1190 |
| Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Long face, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Cam... |
ORPHA:284984 |
| Cree Mental Retardation Syndrome |
|
Posteriorly rotated ears, Cleft soft palate, Micrognathia, Low-set ears, Webbed neck |
OMIM:606851 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Short neck, Sandal gap, Br... |
OMIM:614800 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal pelvis bone morphology, Camptodactyly of finger, Abnormality of the hand, Kyphosis, Plat... |
ORPHA:2273 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Posteriorly rotated ears, Micrognathia, Underdeveloped nasal alae, Cupped ea... |
ORPHA:264200 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Microtia, Seborrheic dermatitis |
ORPHA:276280 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Low-set ears, Short nose, Macrotia, Hear... |
ORPHA:369891 |
| Geroderma Osteodysplasticum |
|
Hyperextensibility of the finger joints, Kyphoscoliosis, Vertebral compression fracture, Femoral ... |
OMIM:231070 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Neonatal death, Kyphosis |
OMIM:618237 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
| Kenny-Caffey Syndrome, Type 1 |
|
Delayed closure of the anterior fontanelle, Hypertelorism, Carious teeth, Decreased skull ossific... |
OMIM:244460 |
| Joubert Syndrome 39 |
|
Molar tooth sign on MRI, Occipital encephalocele, Hypoplastic left heart |
OMIM:619562 |
| Pyknoachondrogenesis |
|
Micromelia, Short iliac bones, Hypoplastic ischia, Short thorax, Abnormal iliac wing morphology, ... |
ORPHA:3003 |
| Hyperlysinemia |
|
Craniosynostosis, Hypotelorism, High palate, Abnormal facial shape, Smooth philtrum |
ORPHA:2203 |
| Duplication Of The Pituitary Gland |
|
Encephalocele, Short stature, Abnormal midbrain morphology |
ORPHA:314621 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Smooth philtrum, Frontal bossing, Thin upper lip vermilion, Craniosynostosis, Hypertelorism, Deep... |
OMIM:617506 |
| Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Olig... |
ORPHA:69085 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Prominent antihelix, Shor... |
ORPHA:293725 |
| Baraitser-Winter Syndrome 1 |
|
Anteverted nares, Sensorineural hearing impairment, Wide nasal bridge, Low-set ears, Overfolded h... |
OMIM:243310 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose |
ORPHA:833 |
| Renpenning Syndrome |
|
Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodactyly of the 5th fin... |
ORPHA:3242 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Brachydactyly, Hand polydactyly, Bilateral single transverse palmar creases |
ORPHA:2377 |
| Joubert Syndrome 33 |
|
Syndactyly |
OMIM:617767 |
| Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Capitate-hamate fusion, Postaxial hand polydactyly, Pectu... |
OMIM:225500 |
| Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, High, narrow palate, H... |
OMIM:119600 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Anteverted nares, Wide nasal bridge, Low-set ears, Short nose, Broad columel... |
OMIM:619383 |
| Eem Syndrome |
|
Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Anteverted ears, Short nose |
OMIM:618087 |
| Orofaciodigital Syndrome Type 6 |
|
Low-set, posteriorly rotated ears, Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Centra... |
ORPHA:2754 |
| Mosaic Trisomy 1 |
|
Long toe, Broad toe, Thoracic scoliosis, Toe syndactyly, Arachnodactyly, Single transverse palmar... |
ORPHA:1692 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Broad long bones, Posteriorly rotated ears, Micromelia, Short neck, Bowing of the ... |
ORPHA:1865 |
| Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Brachycephaly, High palate, Bifid uvula, Hypert... |
OMIM:211380 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Redundant neck skin, Proximal placement of thumb, Short neck, Narrow chest, Short pal... |
OMIM:217980 |
| Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Flat occiput, Micrognathia, Hypertelorism, Bilateral cleft lip and palate, Bifid tongue, Flat face |
ORPHA:2001 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Short nose, Macrotia, Wide nasal bridge |
OMIM:218000 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Sensorineural hearing impairment, Cleft palate |
OMIM:612370 |
| Desmosterolosis |
|
Low-set, posteriorly rotated ears, Intestinal malrotation, Abnormal cortical gyration, Micrognath... |
ORPHA:35107 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... |
OMIM:611561 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Loeys-Dietz Syndrome 1 |
|
Joint laxity, Craniosynostosis, Hypertelorism, Micrognathia, Cleft palate, Proptosis, Camptodacty... |
OMIM:609192 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Femoral bowing, Narrow chest, Abnormality of the wrist, Abnormal vertebral morphology, Elbow anky... |
ORPHA:95699 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Uplifted earlobe, Cleft palate, Furrowed tongue, High palate, Short p... |
OMIM:616449 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Glossoptosis, Sensorineural hearing impairment, Cleft palate, Micrognathia |
ORPHA:440354 |
| Polydactyly-Myopia Syndrome |
|
Postaxial hand polydactyly |
ORPHA:2917 |
| Slc39A8-Cdg |
|
Osteopenia, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Flat face |
ORPHA:468699 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Postaxial polydactyly |
OMIM:603387 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... |
OMIM:600785 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Arachnodactyly, Thenar muscle atrophy, Pectus excavatum, Thin ribs, Th... |
ORPHA:2463 |
| Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Narrow mouth, Large placenta, Wide mouth, Microtia, Low-set ears, Long philtrum,... |
OMIM:222470 |
| Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
| Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Hypoplastic scapulae, Short neck, Bowing of the legs, Short toe, Short thorax, Anenc... |
OMIM:269860 |
| Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
| Wiedemann-Steiner Syndrome |
|
Sacral dimple, Tapered finger, Contracture of the distal interphalangeal joint of the fingers, Sh... |
OMIM:605130 |
| Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Micrognathia, Dental malocclusion, Wide nasal bridge, Alveolar ridge over... |
ORPHA:444072 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Anteverted nares, Posteriorly rotated ears, Low-set ears, Conductive hearing impairment, Short nose |
OMIM:617877 |
| W Syndrome |
|
Hypertelorism, Elbow dislocation, Submucous cleft hard palate, Agenesis of maxillary central inci... |
ORPHA:2804 |
| Osteogenesis Imperfecta, Type Vii |
|
Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Rhizomelia, Protrusio acetabul... |
OMIM:610682 |
| Kinsship Syndrome |
|
Single transverse palmar crease, Short neck, Downturned corners of mouth, Short philtrum, Widely ... |
OMIM:619297 |
| Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlargement of the costochondra... |
OMIM:241530 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Short neck, Abnormal rib morphology, Small hand, Short foot, Webbed neck, Spina bifida occulta, T... |
ORPHA:488434 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Conical incisor, Enamel hypoplasia |
OMIM:614564 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Choanal atresia, Broad nasal tip, Hypoplasia of the maxilla, Car... |
OMIM:129900 |
| Neu-Laxova Syndrome 2 |
|
Intrauterine growth retardation, Spina bifida |
OMIM:616038 |
| Cardioacrofacial Dysplasia 2 |
|
Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Deep philtrum, Postaxial hand... |
OMIM:619143 |
| Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Ovoid thoracolumbar vertebrae |
OMIM:252920 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs |
ORPHA:2519 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Ankle clonus, Prominent calcaneus, Scoliosis |
ORPHA:565624 |
| Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Abnormal pinna morphology, Dental crowding, Kyphoscolios... |
OMIM:309583 |
| Lethal Congenital Contracture Syndrome 1 |
|
Abnormal thorax morphology, Widening of cervical spinal canal, Neonatal death, Micrognathia |
OMIM:253310 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Diastema, Hypoplasia of the maxill... |
OMIM:300534 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Posteriorly rotated ears, Anteverted nares, Micrognathia, Bulbous nose, Flared nostril... |
OMIM:614756 |
| Cri-Du-Chat Syndrome |
|
Microretrognathia, Syndactyly, Short metacarpal, Pes planus, Single transverse palmar crease, Sho... |
OMIM:123450 |
| Recombinant 8 Syndrome |
|
Bilateral single transverse palmar creases, Camptodactyly of finger, Cleft upper lip, Abnormality... |
ORPHA:96167 |
| Arboleda-Tham Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, Deeply set eye, Short philtrum, Long face, Mi... |
OMIM:616268 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Metatarsus... |
OMIM:607872 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Congenital hip dislocation, Abnormal periodontium morphology, High palate, Low-set, posteriorly r... |
ORPHA:480880 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Microtia |
ORPHA:158684 |
| Doors Syndrome |
|
Short lingual frenulum, Brachycephaly, Downturned corners of mouth, Widely spaced teeth, High pal... |
ORPHA:79500 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Choreoathetosis, Cholesteatoma, Dystonia |
OMIM:610978 |
| Mucopolysaccharidosis, Type Iiic |
|
Beaking of vertebral bodies, Thickened ribs, Ovoid thoracolumbar vertebrae, Kyphoscoliosis |
OMIM:252930 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Low-set ears, Median cleft lip, Holoprosencephaly, Cleft palate |
ORPHA:2165 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Hydrocephalus, ... |
ORPHA:370959 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Po... |
OMIM:607361 |
| 2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Short neck, Small hand, Short... |
ORPHA:1001 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Round face, Hypertelorism, Joint stiffness, Micrognathia, Wide n... |
ORPHA:2062 |
| Arteriosclerosis, Severe Juvenile |
|
Hip dysplasia, Dysplasia of second lumbar vertebra, Short phalanx of finger |
OMIM:208060 |
| Aspartylglucosaminuria |
|
Mandibular prognathia, Carious teeth, Wide nasal bridge, Arthritis, Microtia, Chronic otitis medi... |
ORPHA:93 |
| Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:2835 |
| Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
| 3Mc Syndrome 3 |
|
Sacral dimple, Abnormal pinna morphology, Cleft upper lip, Preaxial polydactyly, Cleft palate, Ra... |
OMIM:248340 |
| Joubert Syndrome 23 |
|
Sensorineural hearing impairment, Polydactyly |
OMIM:616490 |
| Renal And Mullerian Duct Hypoplasia |
|
Frontal bossing, Short nose, Micrognathia, Hypertelorism |
OMIM:266810 |
| Microcephaly-Capillary Malformation Syndrome |
|
Low-set ears, Wide nose, Short nose, Hearing impairment |
OMIM:614261 |
| Schwartz-Jampel Syndrome |
|
Micromelia, Short neck, Coxa vara, Pectus carinatum, Wrist flexion contracture, Death in infancy,... |
ORPHA:800 |
| Dystonia-Deafness Syndrome 1 |
|
Hypoplastic scapulae, Femoral retroversion, Kyphoscoliosis, Cleft upper lip, Sensorineural hearin... |
OMIM:607371 |
| Oculodentodigital Dysplasia |
|
Abnormal clavicle morphology, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short h... |
ORPHA:2710 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Abnormal brainstem morphology, Short stature |
ORPHA:1532 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Absent thumb, Sagittal craniosynostosis, Ri... |
ORPHA:500150 |
| Occipital Horn Syndrome |
|
Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Broad clavicles, Pectu... |
OMIM:304150 |
| Silver-Russell Syndrome 1 |
|
Syndactyly, Micrognathia, Abnormal foot morphology, Short distal phalanx of the 5th finger, Clino... |
OMIM:180860 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Wide nose, Depressed nasal ridge, Short nose |
ORPHA:2831 |
| Unilateral Ocular Duplication |
|
Frontal bossing, Median cleft lip, Hypertelorism, Abnormality of the fontanelles or cranial sutur... |
ORPHA:3374 |
| Frank-Ter Haar Syndrome |
|
Bowing of the long bones, Redundant neck skin, Anterior concavity of thoracic vertebrae, Kyphosco... |
OMIM:249420 |
| Lissencephaly 7 With Cerebellar Hypoplasia |
|
Neonatal death, Death in infancy, Hand clenching, Short neck |
OMIM:616342 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Flat capital femoral ... |
OMIM:147891 |
| Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Webbed neck, Anteriorly placed anus, Glossoptosis, High palate, Condu... |
OMIM:117650 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Short nose |
OMIM:618618 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Spina bifida, Short neck, Kyphosis, Preaxial hand pol... |
ORPHA:261318 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Posteriorly rotated ears, Anteverted nares, Broad nasal tip, Cariou... |
OMIM:619522 |
| Xylt1-Cdg |
|
Joint dislocation, Pes planus, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck... |
ORPHA:370930 |
| Distal Duplication 17Q |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Hallux valgus, Arachnodactyly, Rhizo... |
ORPHA:3379 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Postaxial polydactyly, Esophageal varix, Hip dysplasia, Inflammation of the large intestine, Enam... |
OMIM:614576 |
| Ablepharon-Macrostomia Syndrome |
|
Microtia, third degree, Abnormal nasal morphology, Microtia, first degree, Hypoplasia of the zygo... |
OMIM:200110 |
| Duane Retraction Syndrome |
|
Anteverted nares, Micrognathia, External ear malformation, Microcephaly, Sensorineural hearing im... |
ORPHA:233 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Cleft upper lip, Hypoplasia of the maxilla, Conductive hearing impairmen... |
OMIM:164210 |
| Distal Deletion 3P |
|
Low-set, posteriorly rotated ears, Sacral dimple, Short neck, Postaxial hand polydactyly, Cleft p... |
ORPHA:1620 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor |
OMIM:620062 |
| Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Pectus excavatum, Kyphosis, Narrow... |
ORPHA:193 |
| Vater/Vacterl Association |
|
Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ... |
OMIM:192350 |
| Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Posteriorl... |
OMIM:608670 |
| Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Tethered cord, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Hy... |
OMIM:600145 |
| 16P12.1P12.3 Triplication Syndrome |
|
Low-set ears, Large earlobe, Bulbous nose, Short nose |
ORPHA:485405 |
| Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormal fifth cranial nerve morphology, Abnormality ... |
ORPHA:353253 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... |
OMIM:239850 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Bulbous nose, Wide nasal bridge, Protruding ear, Low-set ears, Short nose |
OMIM:618571 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus, Cardiomegaly |
OMIM:300886 |
| Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
| Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Otosclerosis, Prominent metopic ridge, Wide anterior fontanel, Abnormal ea... |
ORPHA:116 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Short neck, Pectus excavatum, Kyphosis, Palmar pits, Abnormal rib morp... |
ORPHA:77301 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Short toe, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Delayed eruption of... |
OMIM:619269 |
| Diamond-Blackfan Anemia |
|
Depressed nasal bridge, Micrognathia, Microcephaly, Wide nasal bridge, Microtia, Low-set ears |
ORPHA:124 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Scoliosis, Brachydactyly |
OMIM:613819 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
| Peters-Plus Syndrome |
|
Short lingual frenulum, Short neck, Micrognathia, Hypoplasia of the maxilla, Protruding ear, Ante... |
OMIM:261540 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Short nose, Anteverted nares |
OMIM:619854 |
| Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Pec... |
OMIM:272950 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:618961 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Thin upper lip vermilion, Sagittal craniosynostosis, Wide anterior fontanel, Long phi... |
OMIM:610199 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Short neck, Micrognathia, Orofacial cleft, Downturned co... |
OMIM:180700 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
ORPHA:95433 |
| Periventricular Nodular Heterotopia 7 |
|
Short nose, Anteverted nares, Sensorineural hearing impairment |
OMIM:617201 |
| Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Hypopl... |
ORPHA:87 |
| Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Clinodactyly, Scoliosis |
ORPHA:2169 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Low-set, posteriorly rotated ears, Micrognathia, External ear malformation, Cleft palate, Long ph... |
ORPHA:2505 |
| 5Q14.3 Microdeletion Syndrome |
|
Short nose, Anteverted nares |
ORPHA:228384 |
| C Syndrome |
|
Low-set, posteriorly rotated ears, Joint dislocation, Anteverted nares, Depressed nasal bridge, M... |
ORPHA:1308 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Posteriorly rotated ears, Short neck, Micrognathia, Narrow mouth, Cleft palate, High palate, Low-... |
OMIM:156610 |
| Isolated Posterior Meningocele |
|
Tethered cord, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia,... |
ORPHA:268810 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Enamel hypoplasia, Smooth tongue, Craniosynostosis, Oral mucosal blisters |
ORPHA:79396 |
| Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly |
OMIM:149000 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy, Optic atrophy |
ORPHA:216873 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Abnormal nasopharynx morphology, Choanal atresia, Hypoplasia of the maxilla, Carious teeth, Depre... |
OMIM:604292 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Short neck, Webbed neck, Anteriorly placed anus, Downturned corners of mouth, Short phalanx of fi... |
OMIM:616894 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose |
ORPHA:85277 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Congenital bilateral hip dislocation |
ORPHA:404451 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Micrognathia, Dental malocclusion, Wide nasal bridge, Localized hypopla... |
ORPHA:73223 |
| Bohring-Opitz Syndrome |
|
Joint dislocation, Syndactyly, Sacral dimple, Prominent metopic ridge, Overlapping toe, Ulnar dev... |
OMIM:605039 |
| Mend Syndrome |
|
Sacral dimple, Redundant neck skin, Posteriorly rotated ears, Broad hallux, Overlapping toe, Kyph... |
OMIM:300960 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Overfolded helix, Macrotia, Short nose |
OMIM:617061 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-4 finger syndactyly, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous finger syndact... |
OMIM:613573 |
| Joubert Syndrome 24 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Talipes equinovarus |
OMIM:616654 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Conduc... |
ORPHA:1071 |
| Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Short neck, Micrognathia, Long neck, Cleft palate, Protruding ear, High palate, Low-set ears, Nar... |
OMIM:301091 |
| Cornelia De Lange Syndrome 1 |
|
Delayed eruption of teeth, Single transverse palmar crease, Micromelia, Short neck, Proximal plac... |
OMIM:122470 |
| Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Sensorineural hearing impairme... |
OMIM:222448 |
| Orofaciodigital Syndrome Type 1 |
|
Lobulated tongue, High palate, Clinodactyly of the 5th finger, Chronic otitis media, Finger synda... |
ORPHA:2750 |
| Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia |
OMIM:112310 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Large earlobe, Wide nose, Short nose |
OMIM:615851 |
| Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Abnor... |
ORPHA:352540 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Sensorineural hearing impairment, Submucous cleft hard palate, Spinal dysraphism, Incomplete part... |
OMIM:617660 |
| Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Short nose, Anteverted nares |
ORPHA:1915 |
| Dihydropyrimidinase Deficiency |
|
Short phalanx of finger, Talipes equinovarus |
OMIM:222748 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Wide nose, Anteverted nares, Sensorineural hearing impairment, Short nose, Macrotia |
ORPHA:391408 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Recurrent fractures, Craniosynostosis, Premature loss of primary teeth... |
ORPHA:667 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Hydrocephalus, Cardiomegaly |
OMIM:269920 |
| Rhombencephalosynapsis |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Aganglionic megacolon, Esophageal atresia, ... |
ORPHA:59315 |
| Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Abnormal finger morphology, Cutaneous finger syndactyly, Abnormality of ... |
ORPHA:896 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Hypertelorism, Proptosis, Hypodontia, Microdontia, Malar flattening, Midface retrusion |
OMIM:602482 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Adenylosuccinase Deficiency |
|
Short nose, Anteverted nares, Low-set ears |
OMIM:103050 |
| Warburg Micro Syndrome 2 |
|
Short nose, Macrotia, Prominent nasal bridge, Asymmetry of the ears |
OMIM:614225 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Redundant neck skin, Overlapping toe, Single transverse palmar crease, Pectus excavatum... |
ORPHA:254528 |
| Achondrogenesis |
|
Short nose, Anteverted nares |
ORPHA:932 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Anteverted nares, Underdeveloped nasal alae, Wide nasal bridge, Low-set ears, Short nose, Macrotia |
OMIM:613026 |
| Nail-Patella Syndrome |
|
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Hypoplasia of first rib... |
OMIM:161200 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Thin ribs |
ORPHA:456328 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short nose |
ORPHA:1389 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254534 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Talipes, Micrognathia, Absent thumb, Aplasia/Hypoplasia of the... |
ORPHA:1234 |
| Khan-Khan-Katsanis Syndrome |
|
Sacral dimple, Tented upper lip vermilion, Postaxial polydactyly, Sensorineural hearing impairmen... |
OMIM:618460 |
| Ohdo Syndrome, Sbbys Variant |
|
Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Cleft palate, Low-set ears, Mic... |
OMIM:603736 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Tongue atrophy |
ORPHA:496689 |
| Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
| Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Increased nuc... |
ORPHA:261344 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect, Clinodactyly, Cutaneous syndactyly |
OMIM:119580 |
| Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Deep philtrum, Short metatarsal, Finger clinodactyly, High palate, Sh... |
OMIM:617137 |
| Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Brachydactyly, Hyperextensibility of the knee, Palmoplantar hyperkerat... |
OMIM:601812 |
| Bardet-Biedl Syndrome |
|
Finger syndactyly, Postaxial hand polydactyly, Short neck |
ORPHA:110 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Low-set ears, Depressed nasal bridge, Anteverted nares, Short nose |
ORPHA:314655 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping toe, Single transverse palmar crease, Kyphosis, Deviation of the 2... |
ORPHA:464738 |
| Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Abnormal palmar dermatoglyphics, Camptodactyly of finger, Spin... |
ORPHA:2092 |
| Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebr... |
OMIM:230500 |
| Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Encephalocele, Posteriorly rotated ears, Cleft upper lip, Postaxial hand polyda... |
OMIM:264480 |
| Moebius Syndrome |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Facial palsy, Micrognathia, Cleft palate, Too... |
ORPHA:570 |
| Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Spinal canal stenosis, Broad palm, Scoliosis, Broad phalanges of the hand, ... |
OMIM:277600 |
| Distal Deletion 19P |
|
Low-set, posteriorly rotated ears, Hypoplasia of the maxilla, Sensorineural hearing impairment, C... |
ORPHA:96129 |
| Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Hydranencephaly, Rocker bottom foot, Micromelia, Short neck, S... |
OMIM:256520 |
| Oligomeganephronia |
|
Branchial cyst, Optic disc coloboma, Micrognathia, Hearing impairment |
ORPHA:2260 |
| Intellectual Disability-Strabismus Syndrome |
|
Depressed nasal bridge, Narrow nasal ridge, Prominent nose, Low-set ears, Recurrent otitis media,... |
ORPHA:363528 |
| Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Abnormal cortical gyration, Spina bifida, Micrognathia, Pachygyria, ... |
ORPHA:2671 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Facial palsy, Furrowed tongue |
ORPHA:2743 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:210548 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose, Hearing impairment |
OMIM:256600 |
| Culler-Jones Syndrome |
|
Postaxial polydactyly, Cleft palate, Cleft upper lip |
OMIM:615849 |
| Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy |
OMIM:254300 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microcephaly, Atresia of the external auditory canal, Aplasia of the nose, Abnormality of the out... |
ORPHA:3186 |
| Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:615108 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Short nose, Macrotia, Anteverted nares |
OMIM:234050 |
| Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
| Acrodysostosis |
|
Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, Wide nasal bridge, Short nose, H... |
ORPHA:950 |
| Frontofacionasal Dysplasia |
|
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, Dimple on nasal ... |
ORPHA:1791 |
| Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Capitat... |
ORPHA:289 |
| Fraser Syndrome 2 |
|
Wide nose, Atresia of the external auditory canal, Low-set ears, Underdeveloped nasal alae |
OMIM:617666 |
| X Small Rings |
|
Toe syndactyly, Tapered finger, Short neck, 2-3 toe syndactyly, Upper limb undergrowth, Cutaneous... |
ORPHA:96201 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Frontal bossing, Conical incisor |
OMIM:300291 |
| Fraser Syndrome 1 |
|
Wide nose, Cleft ala nasi, Abnormal pinna morphology, Depressed nasal bridge, Underdeveloped nasa... |
OMIM:219000 |
| Developmental And Epileptic Encephalopathy 75 |
|
Short nose, Anteverted nares, Wide nasal bridge |
OMIM:618437 |
| Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulder flexion contracture,... |
OMIM:620369 |
| Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Sensorineural hearing impairment, Dilated vestibule of the inn... |
OMIM:611584 |
| Micro Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Wide nasal bridge, Short nose, Macrotia |
ORPHA:2510 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... |
ORPHA:2491 |
| Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Sacral dimple, Posteriorly rotated ears, Sin... |
OMIM:247200 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Retrognathia, Low pos... |
OMIM:619227 |
| Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Occipital encephalocele, Posteriorly rotated ears, Hamartoma of t... |
OMIM:615948 |
| Trisomy 18 |
|
Short stature, Spina bifida, Anencephaly, Growth delay, Holoprosencephaly, Intrauterine growth re... |
ORPHA:3380 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po... |
OMIM:217085 |
| Jaberi-Elahi Syndrome |
|
Short nose, Depressed nasal bridge, Low-set ears, Protruding ear |
OMIM:617988 |
| Joubert Syndrome 22 |
|
Molar tooth sign on MRI, Intrauterine growth retardation |
OMIM:615665 |
| Spinocerebellar Ataxia 36 |
|
Tongue atrophy, Tongue fasciculations, Hearing impairment |
OMIM:614153 |
| Gabriele-De Vries Syndrome |
|
Abnormality of upper lip vermillion, Craniosynostosis, Micrognathia, Abnormality of the dentition... |
ORPHA:506358 |
| Mend Syndrome |
|
Thickened nuchal skin fold, Sacral dimple, Broad hallux, Overlapping toe, Abnormal auditory evoke... |
ORPHA:401973 |
| Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur... |
OMIM:180849 |
| Silver-Russell Syndrome 3 |
|
Clinodactyly of the 5th finger, Syndactyly, Small hand, Antecubital pterygium |
OMIM:616489 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Finger syndactyly, 2-3 toe syndactyly, Coronal cleft vertebrae, Talipes equinov... |
OMIM:620025 |
| Catel-Manzke Syndrome |
|
Single transverse palmar crease, Short neck, Glossoptosis, High palate, Clinodactyly of the 5th f... |
OMIM:616145 |
| X-Linked Agammaglobulinemia |
|
Chronic otitis media, Glossoptosis, Sensorineural hearing impairment, Malabsorption |
ORPHA:47 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir... |
ORPHA:1422 |
| Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly |
OMIM:615397 |
| Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
| Spinocerebellar Ataxia Type 36 |
|
Vertigo, Tongue atrophy, Tongue fasciculations, Hearing impairment |
ORPHA:276198 |
| Simpson-Golabi-Behmel Syndrome |
|
Vertebral fusion, Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of... |
ORPHA:373 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thickened nuchal skin fold, Thin upper lip vermilion, Redundant neck skin, Short neck, Postaxial ... |
OMIM:235255 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Decreased nerve conduction velocity, Glossoptosis, Cleft palate, Micrognathia |
OMIM:618356 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Hyperextensibility of the finger joints, Tented upper lip verm... |
ORPHA:521426 |
| Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm... |
ORPHA:249 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Umbilical hernia, Hydrocephalus, Spina bifida |
OMIM:613776 |
| Townes-Brocks Syndrome 1 |
|
Overfolding of the superior helices, Choanal atresia, Microcephaly, Sensorineural hearing impairm... |
OMIM:107480 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Depressed nasal bridge, Posteriorly rotated ears, Long nose, Low-set ears, Short nose |
OMIM:618590 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Short nose |
OMIM:615042 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Microretrognathia, Syndactyly, Short digit, Death in infancy, Proximal placement of thumb, Talipe... |
OMIM:615789 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Tongue atrophy, Tongue fasciculations |
OMIM:613435 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Dental crowding, S... |
OMIM:300990 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Thin ribs |
OMIM:614833 |
| Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:615109 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue atrophy, Facial palsy, Sensorineural hearing impairment, Tongue fasciculations, Death in c... |
OMIM:211530 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly |
OMIM:615631 |
| Tetrasomy 5P |
|
Posteriorly rotated ears, Anteverted nares, Wide nasal bridge, Low-set ears, Short nose |
ORPHA:3309 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Prominent metopic ridge, Anteverted nares, Prominent nose, Micrognathia, Elbow d... |
OMIM:210710 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
| Cadds |
|
Short nose, Sensorineural hearing impairment |
ORPHA:369942 |
| Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Thickened superior cerebellar pe... |
OMIM:609583 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Posteriorly rotated ears, Short nose, Depressed nasal bridge, Hearing impairment |
OMIM:619833 |
| Peho Syndrome |
|
External ear malformation, Short nose, Macrotia, Anteverted nares |
ORPHA:2836 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Broad ribs, Flaring of rib cage, Fused cervical vertebrae |
OMIM:612852 |
| Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifid... |
OMIM:305600 |
| Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Short metatarsal, Spinal canal stenosis, Broad palm, Elbo... |
OMIM:608328 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short nose, Anteverted nares |
OMIM:619356 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Bulbous nose, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:614105 |
| Scalp Defects-Postaxial Polydactyly Syndrome |
|
Encephalocele, Postaxial polydactyly type A |
ORPHA:1003 |
| Limb Body Wall Complex |
|
Encephalocele, Thoracoabdominal wall defect, Duplication of hand bones, Broad hallux, Aplasia/hyp... |
ORPHA:2369 |
| Alkuraya-Kucinskas Syndrome |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Low-set ears, Short nose |
OMIM:617822 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Sandal gap, Broad hallux, 2-3 toe syndactyly, Cutaneous syndactyly, Short 5th f... |
OMIM:600987 |
| Mosaic Trisomy 9 |
|
Intrauterine growth retardation, Spina bifida |
ORPHA:99776 |
| Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93260 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Prominent nasal bridge, Broad nasal tip, Sensorineural hearing impairment, Wide nasal bridge, Sho... |
OMIM:300749 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border |
OMIM:620114 |
| Osteogenesis Imperfecta |
|
Cervical kyphosis, Micromelia, Abnormal tibia morphology, Osteoarthritis, Abnormal femur morpholo... |
ORPHA:666 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Oculodentodigital Dysplasia |
|
Abnormal pinna morphology, Selective tooth agenesis, Cleft upper lip, Carious teeth, Cubitus valg... |
OMIM:164200 |
| Desmosterolosis |
|
Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Cupped ear, Low-set ears, S... |
OMIM:602398 |
| Peters Plus Syndrome |
|
Low-set, posteriorly rotated ears, Intestinal fistula, Thin upper lip vermilion, Microtia, second... |
ORPHA:709 |
| Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Death in infancy, Spina bifida, Missing ... |
ORPHA:2308 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Short nose, Sensorineural hearing impairment |
ORPHA:544503 |
| Witteveen-Kolk Syndrome |
|
Glue ear, Uplifted earlobe, High, narrow palate, Protruding ear, Short philtrum, High palate, Thi... |
OMIM:613406 |
| Arima Syndrome |
|
Brainstem dysplasia, Growth delay, Hypoplasia of the brainstem, Molar tooth sign on MRI, Occipita... |
OMIM:243910 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly |
ORPHA:1997 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Increased intervertebral space, Broad ischia, Diaphyseal dysplasia, Platys... |
OMIM:619727 |
| Coach Syndrome 2 |
|
Molar tooth sign on MRI, Hydrocephalus |
OMIM:619111 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of the maxilla, Cleft palate, Conductive hearing im... |
ORPHA:306542 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Posteriorly rotated ears, Broad nasal tip, Sensorineural hearing impairment, Wide nasal bridge, S... |
OMIM:239300 |
| Myhre Syndrome |
|
Brachydactyly, Abnormal rib morphology, Platyspondyly, Abnormal epiphysis morphology, Short palm,... |
ORPHA:2588 |
| Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Sacral dimple, Camptodactyly of finger, Micromelia, Short neck, Pectus excavat... |
ORPHA:3107 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Joint laxity, Thin upper lip vermilion, Craniosynostosis |
OMIM:300707 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Thickened nuchal skin fold, Posterior rib fusion, Neonatal death, Cystic hygroma, Butterfly verte... |
OMIM:265380 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Hydrolethalus Syndrome 1 |
|
Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha... |
OMIM:236680 |
| Pontocerebellar Hypoplasia Type 10 |
|
Growth delay, Abnormal brainstem morphology |
ORPHA:411493 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Orofacial cleft, ... |
OMIM:615630 |
| Gracile Bone Dysplasia |
|
Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Brachydactyly |
OMIM:602361 |
| Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Short neck, Humeroradial synostosis, Abnormal rib morphology, Ov... |
ORPHA:3404 |
| 19P13.13 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Low-set ears, Short nose, Macrotia |
ORPHA:357001 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Lumbar hyperlordosis, Equinus calcaneus, 2-3 toe syndactyly, Bilateral talipes equinovarus, Scoli... |
ORPHA:522077 |
| Aspergillosis |
|
Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology |
ORPHA:1163 |
| Cardiofacioneurodevelopmental Syndrome |
|
Kyphosis, Cleft lip, Cleft palate, Protruding ear, Camptodactyly, Clinodactyly of the 5th finger,... |
OMIM:619123 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Tethered cord, Spinal dysraphism |
OMIM:612918 |
| Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Submucous cleft hard palate, Abnormal mandible morphology, Glossoptosis, Hyp... |
ORPHA:3201 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Cupped ear, Overfolded helix,... |
OMIM:614080 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, ... |
ORPHA:508488 |
| Loeys-Dietz Syndrome 2 |
|
Joint laxity, Protrusio acetabuli, Craniosynostosis, Hypertelorism, Micrognathia, Osteoporosis, R... |
OMIM:610168 |
| Marfan Syndrome |
|
Pes planus, Medial rotation of the medial malleolus, Arachnodactyly, Protrusio acetabuli, Kyphosc... |
OMIM:154700 |
| Charge Syndrome |
|
Mixed hearing impairment, Choanal atresia, Facial palsy, Micrognathia, Aplasia of the semicircula... |
OMIM:214800 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose |
ORPHA:289266 |
| Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Short ... |
OMIM:208150 |
| 22Q11.2 Deletion Syndrome |
|
Long face, Turricephaly, Abnormal dental enamel morphology, Hypertelorism, Abnormality of the den... |
ORPHA:567 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Short toe, Short phalanx of finger, Type E brachydactyly |
OMIM:600430 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| 8P23.1 Microdeletion Syndrome |
|
Prominent nasal bridge, External ear malformation, Wide nasal bridge, Low-set ears, Short nose |
ORPHA:251071 |
| Odontochondrodysplasia |
|
Short nose, Depressed nasal bridge |
ORPHA:166272 |
| Harel-Yoon Syndrome |
|
Short nose |
OMIM:617183 |
| Bainbridge-Ropers Syndrome |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Broa... |
OMIM:615485 |
| Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De... |
OMIM:610829 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Short nose, Anteverted nares, Low-set ears |
OMIM:219200 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Cleft upper lip, Sensorineural hearing impairment, Cleft palate, Tooth agenesis, Ectrodactyly, Cl... |
OMIM:147950 |
| Lethal Congenital Contracture Syndrome 5 |
|
Thin ribs |
OMIM:615368 |
| Smith-Magenis Syndrome |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Conductive hearing impairment, Short... |
ORPHA:819 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Short neck, Camptodactyly, Absent palmar crease |
OMIM:614230 |
| Cerebellofaciodental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion, Genu valgum |
OMIM:616202 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Abnormality of the neck, Progressive clavicular acroosteolysis, Osteoly... |
OMIM:608612 |
| Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Hypertrophic cardiomyopathy |
OMIM:617757 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
| Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
| 1P21.3 Microdeletion Syndrome |
|
Short nose, Long ear, Broad nasal tip |
ORPHA:293948 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Facial palsy, Micrognathia, Trismus, Sensorineural hearing impairment, Pierre-Robin sequence, Cle... |
OMIM:254940 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Delayed eruption of teeth, Prominent metopic ridge, Overlapping toe, Single transv... |
OMIM:619148 |
| Phakomatosis Pigmentokeratotica |
|
Spina bifida |
ORPHA:2874 |
| Joubert Syndrome 3 |
|
Atrial septal defect, Elongated superior cerebellar peduncle, Molar tooth sign on MRI |
OMIM:608629 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Long... |
OMIM:300912 |
| Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele, Patellar hypoplasia, Talipes equinovarus, Preaxial foot polydactyly, ... |
ORPHA:1827 |
| Loeys-Dietz Syndrome 3 |
|
Joint laxity, Long face, Protrusio acetabuli, Craniosynostosis, Dolichocephaly, Hypertelorism, Os... |
OMIM:613795 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Micromelia |
OMIM:273680 |
| Renal Agenesis, Bilateral |
|
Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abnormal intestine m... |
ORPHA:1848 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Micrognathia, Contracture of the distal interphalangeal joint of the fingers, Wide nasal bridge, ... |
ORPHA:83617 |
| Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Micrognathia, Hydrocephalus, Cle... |
OMIM:243605 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Toe syndactyly, Arachnodactyly, Short palm |
ORPHA:73246 |
| Native American Myopathy |
|
Micrognathia, Conductive hearing impairment, Cleft palate, Downturned corners of mouth, High pala... |
ORPHA:168572 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
| Orofaciodigital Syndrome Xvi |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Hamartoma of tongue, Low-set ears |
OMIM:617563 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Postaxial hand polydactyly, Low-set ears |
OMIM:220220 |
| Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Death in infancy, Toe syndactyly, Joint dislocation, Camptodact... |
ORPHA:2008 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... |
OMIM:618652 |
| Diaphanospondylodysostosis |
|
Low-set ears, Depressed nasal bridge, Depressed nasal ridge, Short nose |
OMIM:608022 |
| Pagod Syndrome |
|
Encephalocele, Meningocele, Short stature, Spina bifida |
ORPHA:991 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Death in infancy, Micrognathia, Adactyly, Split hand, Aplasia/H... |
ORPHA:989 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, ... |
ORPHA:464 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Dental crowding, Hearing impairment, Narrow palate, High palate, Thick ... |
OMIM:616078 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Hyperlordosis, Palmoplantar hyperkeratosis, Bilateral single t... |
ORPHA:3253 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Sacral dimple, Broad hallux phalanx, Preaxial hand polydactyly,... |
ORPHA:2211 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Tapered finger, Hyperlordosis, Hip dislocation, Genu valgum, Hip dysplasia, Umbilical hernia, Tal... |
OMIM:301066 |
| Joubert Syndrome 5 |
|
Molar tooth sign on MRI, Occipital encephalocele, Thickened superior cerebellar peduncle |
OMIM:610188 |
| Fraser Syndrome |
|
Low-set, posteriorly rotated ears, Cleft ala nasi, Depressed nasal bridge, Underdeveloped nasal a... |
ORPHA:2052 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Mixed hearing impairment, Delayed eruption of primary teeth, Carious teeth, Cupped ear, Conical i... |
OMIM:149730 |
| Orofacial Cleft 13 |
|
Oligodontia, Retrognathia, Cleft soft palate, Micrognathia |
OMIM:613857 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
| Warburg Micro Syndrome 3 |
|
Short nose, Macrotia |
OMIM:614222 |
| Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly, Everted lower lip vermilion, Abnormal pinna morphology, Long philtrum |
ORPHA:75389 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal nostril morphology, Short nose, Anosmia |
ORPHA:1295 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Short nose, Anteverted nares, Low-set ears, Sensorineural hearing impairment |
OMIM:612394 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Postaxial polydactyly, Hip dysplasia, Scoliosis, Clinodactyly of the 5th finger, Op... |
ORPHA:457284 |
| Cowden Syndrome 1 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:158350 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Dental crowding, Optic atrophy, Narrow palate, Hyperplasia of t... |
ORPHA:313892 |
| Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Proximal placement of thumb, Sensorineural hearing impairment, Postaxial foot ... |
ORPHA:139471 |
| Lathosterolosis |
|
Toe syndactyly, Lumbosacral meningocele, Postaxial hand polydactyly, Myelomeningocele, Gingival o... |
OMIM:607330 |
| You-Hoover-Fong Syndrome |
|
Brachydactyly, Accessory oral frenulum, Kyphoscoliosis, Cleft palate, Clinodactyly, Hearing impai... |
OMIM:616954 |
| 8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Short neck, Abnormal metacarpal morphology, Absent pa... |
ORPHA:284160 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity, Furrowed tongue |
ORPHA:2928 |
| Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap... |
OMIM:617247 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Bell-shaped thorax, Horizontal ribs |
OMIM:614857 |
| Holoprosencephaly 14 |
|
Median cleft lip, Periventricular heterotopia, Alobar holoprosencephaly, Cleft lip, Aqueductal st... |
OMIM:619895 |
| Prader-Willi Syndrome |
|
Syndactyly, Kyphosis, Acromicria, Small hand, Narrow palm, Genu valgum, Short foot, Hip dysplasia... |
OMIM:176270 |
| Proteus Syndrome |
|
Round face, Abnormal dental enamel morphology, Craniosynostosis, Joint stiffness, Hypertelorism, ... |
ORPHA:744 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Delayed closure of the anterior fontanelle, Microgn... |
ORPHA:96182 |
| Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Micrognath... |
ORPHA:783 |
| Macrocephaly/Autism Syndrome |
|
Recurrent otitis media, Short nose, Depressed nasal bridge |
OMIM:605309 |
| Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... |
ORPHA:530 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Short neck, Abnormal form of the vertebral bodies, Advanced eruption... |
ORPHA:818 |
| Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrow... |
ORPHA:769 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Optic disc coloboma, Cleft palate, Rectovaginal fistula, Low-set ears, An... |
OMIM:270420 |
| Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Clinodactyly of the 5th finger, Clinodactyly of the 5th to... |
ORPHA:3255 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
| Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Single transverse palma... |
OMIM:269150 |
| Joubert Syndrome 27 |
|
Thick lower lip vermilion, Polydactyly |
OMIM:617120 |
| Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Microdontia, Advanced erupt... |
OMIM:615873 |
| Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasi... |
ORPHA:85165 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Postaxial hand polydactyly, Narrow mouth |
ORPHA:83473 |
| Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus... |
OMIM:615582 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Kyphosis, Cleft lip, Cupped ear, Hemivertebrae, Narrow palate, Cleft palate, Webbed n... |
OMIM:618223 |
| Hyperparathyroidism, Transient Neonatal |
|
Wide cranial sutures, Short femur, Metaphyseal spurs, Undulate ribs, Thin ribs, Femoral bowing, S... |
OMIM:618188 |
| Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Thoracic scoliosis, Spinal rigidity, Pectus excavatum, Kyphosi... |
OMIM:620351 |
| Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... |
ORPHA:171929 |
| Familial Visceral Myopathy |
|
Low-set, posteriorly rotated ears, Aganglionic megacolon, Micrognathia, Cleft palate, Umbilical h... |
ORPHA:2604 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Orofaciodigital Syndrome Type 14 |
|
Low-set, posteriorly rotated ears, Microretrognathia, Accessory oral frenulum, Hamartoma of tongu... |
ORPHA:434179 |
| Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Talipes, Abnormality of the lower limb, Absent t... |
ORPHA:974 |
| Lathosterolosis |
|
Abnormal thoracic spine morphology, Toe syndactyly, Postaxial hand polydactyly, Meningocele, Ging... |
ORPHA:46059 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly |
ORPHA:60040 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint dislocation, Joint laxity, Abnormal dental morphology, Craniosynostosis, Wide nasal bridge,... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Joint dislocation, Joint laxity, Abnormal dental morphology, Craniosynostosis, Wide nasal bridge,... |
ORPHA:363958 |
| Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Pectus excavatum, Syndactyly, Broad palm, Clinodactyly of the 5th finger |
OMIM:618505 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Wide anterior fontanel, Femoral bowing, Tibial bowing... |
OMIM:616482 |
| Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Hypoplasia of the premaxilla, Alob... |
OMIM:610828 |
| Nicolaides-Baraitser Syndrome |
|
Long toe, Hallux valgus, Short metacarpal, Enlarged joints, Sandal gap, Single transverse palmar ... |
OMIM:601358 |
| Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy |
OMIM:212140 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Aplastic clavicle, Kyphosis, Abnormal metacarpal morphology, Abnormal finger m... |
ORPHA:2658 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Bardet-Biedl Syndrome 2 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:615981 |
| Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, Facial palsy, Micrognathia, Pierre-Robin sequence, Cleft palate... |
ORPHA:1358 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypertelorism, Persistence of primary teeth, Carious teeth, Cortical thickening of long bone diap... |
ORPHA:93325 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Cardiomegaly |
OMIM:618838 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Short nose, Depressed nasal bridge, Low-set ears |
ORPHA:1812 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
| Tick-Borne Encephalitis |
|
Facial palsy, Tremor, Vertigo, Abnormal cranial nerve morphology, Abnormal glossopharyngeal nerve... |
ORPHA:297 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Depressed nasal bridge, Sensorineural hearing impairment, Low-set ears, Short nose, Convex nasal ... |
OMIM:300661 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platyspondyly... |
OMIM:259770 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperostosis, Subperiosteal bone formation, Taurodontia, Pulp calcification, Enamel hypoplasia |
OMIM:211900 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Low-set, posteriorly rotated ears, Encephalocele, Intestinal malrotation, Hypoplasia of the prema... |
ORPHA:2166 |
| Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
| Hallermann-Streiff Syndrome |
|
Proportionate short stature, Spina bifida |
OMIM:234100 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Short nose, Sensorineural hearing impairment, Wide nasal bridge, Broad nasal tip |
OMIM:614207 |
| Tolchin-Le Caignec Syndrome |
|
Abnormal vestibular function, Micrognathia, Sensorineural hearing impairment, Submucous cleft har... |
OMIM:618971 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Bulbo... |
OMIM:618454 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormal intervertebral disk morphology, Micromelia, Short neck, Abnormal finger morphology, Abno... |
ORPHA:2636 |
| White-Kernohan Syndrome |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Low-set ears, Recurrent otit... |
OMIM:619426 |
| Joubert Syndrome 35 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle |
OMIM:618161 |
| Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Abnormality of the lower limb, Abnormality of th... |
ORPHA:1556 |
| Peho Syndrome |
|
Short nose |
OMIM:260565 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy |
OMIM:616155 |
| Norrie Disease |
|
Narrow nasal bridge, Microcephaly, Sensorineural hearing impairment, Optic atrophy, Protruding ea... |
ORPHA:649 |
| Severe Congenital Nemaline Myopathy |
|
Abnormal thorax morphology, Thin ribs |
ORPHA:171430 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
| Bardet-Biedl Syndrome 21 |
|
Postaxial hand polydactyly, Hypodontia, Abnormality of the dentition |
OMIM:617406 |
| Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology |
ORPHA:206448 |
| Joubert Syndrome 30 |
|
Molar tooth sign on MRI |
OMIM:617622 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Roberts-Sc Phocomelia Syndrome |
|
Craniosynostosis, Ankle flexion contracture, Hypertelorism, Micrognathia, Cleft upper lip, Elbow ... |
OMIM:268300 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Short neck, Talipes equinovarus, Camptodactyly, Neonatal death |
OMIM:608104 |
| Yunis-Varon Syndrome |
|
Wide cranial sutures, Congenital hip dislocation, Anteverted nares, Micrognathia, Microcephaly, S... |
OMIM:216340 |
| Pili Torti-Onychodysplasia Syndrome |
|
Palmoplantar keratoderma, Cutaneous syndactyly |
ORPHA:2890 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Redundant neck skin, Short neck, Postaxial hand polydactyly, Alveolar r... |
ORPHA:1655 |
| Poikiloderma With Neutropenia |
|
Depressed nasal bridge, Underdeveloped nasal alae, Recurrent sinusitis, Recurrent otitis media, S... |
OMIM:604173 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Joint dislocation, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Kyphoscoliosi... |
OMIM:225400 |
| Johanson-Blizzard Syndrome |
|
Abnormal nostril morphology, Short nose, Sensorineural hearing impairment, Underdeveloped nasal alae |
ORPHA:2315 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Macrodontia of permanent maxillary central incisor, Retrognathia |
ORPHA:466722 |
| Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Neonatal death, Death in infancy, Short finger |
OMIM:242500 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Cleft upper lip, Cleft palate, Low-set ears, Death in childhood, Hypoplastic helices, Macrotia |
OMIM:600460 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Short neck, High, narrow palate, Deep philtrum, Downturned corners of mout... |
OMIM:619950 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Anteverted nares, Broad nasal tip, Prominent nasolabial fold, Low-set ears, Short nose |
ORPHA:357074 |
| Polydactyly, Postaxial, Type A6 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Broad phalanges of the 5th finger |
OMIM:615226 |
| Microphthalmia, Syndromic 6 |
|
Micrognathia, Brachycephaly, Cleft palate, Plagiocephaly, Bifid uvula, High palate, Lambdoidal cr... |
OMIM:607932 |
| Myoclonic-Astatic Epilepsy |
|
Syndactyly |
ORPHA:1942 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Thin ribs |
OMIM:300219 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Frontal bossing, Cloverleaf skull, Tarsal synostosis, Craniosynostosis, Hypertelorism, Humeroradi... |
OMIM:201750 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Depressed nasal bridge, Concave nasal ridge, Anteverted nares, Short nose |
OMIM:613038 |
| Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Short stature, Spina bifida |
OMIM:162200 |
| Monosomy 22 |
|
Finger syndactyly, Single transverse palmar crease, Short neck, Clubbing, Joint swelling, Clinoda... |
ORPHA:96123 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Low-set ears, Shor... |
OMIM:257300 |
| Meckel Syndrome |
|
Low-set, posteriorly rotated ears, Encephalocele, Aplasia/Hypoplasia of the tongue, Micrognathia,... |
ORPHA:564 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Underdeveloped nasal alae, Wide nasal bridge, Short nose, He... |
OMIM:193700 |
| Split Cord Malformation |
|
Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Hydrocephalus, Meni... |
ORPHA:573278 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Posteriorly rotated ears, Abnormal pinna morphology, Micrognathia, Cleft lip, Sensorineural heari... |
OMIM:616975 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Short nose, Depressed nasal bridge, Broad columella |
OMIM:617865 |
| 19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Toe clinodactyly, Clinodactyly of ... |
ORPHA:217346 |
| Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Malabsorption, Hypogeusia, Furrowed tongue, Hamartomatous polyposis, Colon ... |
ORPHA:2930 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose |
ORPHA:1129 |
| Odontoonychodermal Dysplasia |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
| Bardet-Biedl Syndrome 20 |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:619471 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Prominent metopic ridge, Tapered finger, Long fingers, Calcaneovalgus deformity, Delayed eruption... |
ORPHA:521445 |
| Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease... |
ORPHA:3472 |
| Mandibuloacral Dysplasia |
|
Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, Increased adipose... |
ORPHA:2457 |
| Giant Cell Arteritis |
|
Vertigo, Optic atrophy, Conductive hearing impairment, Glossitis, Hearing impairment |
ORPHA:397 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Overfolded helix, Short nose |
ORPHA:1974 |
| Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Microretrognathia, Cleft palate, Downturned corners of mouth, Bilateral conductive hearing impair... |
ORPHA:488642 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Bronchiectasis, Hepati... |
OMIM:619381 |
| Autosomal Dominant Centronuclear Myopathy |
|
Thin ribs |
ORPHA:169189 |
| Cardiofaciocutaneous Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Bulbous nose, Anterior crease... |
OMIM:115150 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Umbilical hernia |
OMIM:614520 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Pes cavus, Decreased patellar reflex, Equinovarus deformity, Equinus calcaneus |
ORPHA:746 |
| Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo... |
OMIM:601005 |
| Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Wide nose, Anteverted... |
ORPHA:93357 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal pelvic girdle bone morphology, Pes cavus, Carpal bone hypoplasia |
OMIM:601162 |
| Pontocerebellar Hypoplasia, Type 1B |
|
Tongue atrophy, Tongue fasciculations |
OMIM:614678 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Intrauterine growth ret... |
OMIM:617713 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Tongue atrophy, Decreased distal sensory nerve action potential, Sensorineural hearing impairment... |
ORPHA:99956 |
| Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
2-3 finger syndactyly |
ORPHA:1338 |
| Trichothiodystrophy 1, Photosensitive |
|
Short nose, Macrotia, Protruding ear |
OMIM:601675 |
| Prolidase Deficiency |
|
Short nose, Concave nasal ridge, Depressed nasal bridge |
OMIM:170100 |
| Luscan-Lumish Syndrome |
|
Long foot, Advanced ossification of carpal bones |
OMIM:616831 |
| Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Bilateral sensorineural hearing ... |
ORPHA:1051 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... |
ORPHA:90321 |
| Townes-Brocks Syndrome |
|
External ear malformation, Abnormal tragus morphology, Microtia, Overfolded helix, Hearing impair... |
ORPHA:857 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Abnormal hand morphology, Short phalanx of finger, Broad finger, Small hand |
OMIM:300845 |
| Biemond Syndrome Type 2 |
|
Preaxial polydactyly |
ORPHA:141333 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly |
ORPHA:66629 |
| Mietens Syndrome |
|
Wide nose, Wide nasal bridge, Short nose |
ORPHA:2557 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Short nose, Low hanging columella |
OMIM:615803 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Umbilical hernia, Brachydactyly |
OMIM:616028 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Short nose |
ORPHA:496790 |
| Fryns Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Short neck, Rocker bottom foot, Sho... |
OMIM:229850 |
| Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short neck, Webbed neck, Clinodactyly of the ... |
ORPHA:1587 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Tongue atrophy, Optic nerve hypoplasia, Decreased nerve cond... |
ORPHA:101085 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Smith-Kingsmore Syndrome |
|
Short nose, Depressed nasal bridge |
OMIM:616638 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morphology, Right v... |
ORPHA:2041 |
| Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Pyloric s... |
ORPHA:3138 |
| Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
| Chops Syndrome |
|
Thickened helices, Short nose, Anteverted nares, Hearing impairment |
OMIM:616368 |
| Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
| Distal Deletion 15Q |
|
Thin upper lip vermilion, Abnormality of the dentition, Micrognathia, Cleft palate, Cystic hygrom... |
ORPHA:1596 |
| Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in infancy, Death in childhood, Adducted thumb |
OMIM:619334 |
| Choreoacanthocytosis |
|
Temporomandibular joint crepitus, Decreased amplitude of sensory action potentials, Abnormal auto... |
ORPHA:2388 |
| Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Multiple joint dislocation, Joint dislocation |
OMIM:245650 |
| Hereditary Acrokeratotic Poikiloderma |
|
Premature loss of primary teeth, Abnormality of the dentition, Open bite, Trismus, Xerostomia, Gi... |
ORPHA:2907 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Short nose, Low-set ears |
ORPHA:457279 |
| Fanconi Anemia |
|
Short stature, Spina bifida, Hydrocephalus, Growth delay, Umbilical hernia, Intrauterine growth r... |
ORPHA:84 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Short stature, Spina bifida |
ORPHA:508498 |
| Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Single transverse palmar crease, Delay... |
OMIM:303600 |
| Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Microdontia, Sensorineural hearing impairment, Oral leukoplakia, Furrowed tongue |
OMIM:148210 |
| Kleefstra Syndrome |
|
Anteverted nares, Thickened helices, Short nose, Chronic otitis media, Hearing impairment |
ORPHA:261494 |
| Floating-Harbor Syndrome |
|
Narrow nasal bridge, Enlarged joints, Persistence of primary teeth, Hypoplasia of the maxilla, Ca... |
ORPHA:2044 |
| Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... |
ORPHA:206436 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Mixed hearing impairment, Micrognath... |
ORPHA:444077 |
| Hemochromatosis, Type 1 |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:235200 |
| Stickler Syndrome |
|
Abnormal dental enamel morphology, Cleft upper lip, Open bite, Micrognathia, Sensorineural hearin... |
ORPHA:828 |
| Kaufman Oculocerebrofacial Syndrome |
|
Depressed nasal bridge, Abnormal pinna morphology, Anteverted nares, Low-set ears, Short nose |
OMIM:244450 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
| Pseudo-Torch Syndrome 2 |
|
Thin ribs |
OMIM:617397 |
| Microform Holoprosencephaly |
|
Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Short nose |
ORPHA:280200 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
High-frequency sensorineural hearing impairment, Mixed hearing impairment, Cleft soft palate, Con... |
OMIM:614557 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Short nose, Depressed nasal bridge, Wide nasal bridge, Low-set ears |
OMIM:613457 |
| Japanese Encephalitis |
|
Abnormal pons morphology, Abnormal substantia nigra morphology, Abnormal midbrain morphology |
ORPHA:79139 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
| Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Thickened helices, S... |
ORPHA:1340 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Patent ductu... |
ORPHA:96191 |
| Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Aganglionic megacolon, Tarsal synostosis, Postaxial hand polydactyly, Cleft pa... |
ORPHA:2473 |
| Seckel Syndrome 2 |
|
Microdontia, Microglossia, Micrognathia |
OMIM:606744 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Cleft upper lip, Postaxial hand polydactyly, Anencephaly, Cleft palate, ... |
OMIM:612284 |
| Fraser Syndrome 3 |
|
Short toe, Stillbirth, Micrognathia, Cutaneous syndactyly |
OMIM:617667 |
| Alg3-Cdg |
|
Neural tube defect |
ORPHA:79321 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Joint laxity, Natal tooth, Dental crowding, Carious teeth, Supernumerary tooth, Talon cusp, Denta... |
ORPHA:353281 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Kyphosis, Pyloric stenosis, Protruding ear, Polyda... |
ORPHA:464306 |
| Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis |
ORPHA:2221 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue atrophy, Tongue fasciculations |
OMIM:620285 |
| Joubert Syndrome 6 |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem, Thickened superior cerebellar peduncle, Elo... |
OMIM:610688 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Tongue atrophy, Sensorineural hearing impairment, Opti... |
ORPHA:99949 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
| Agel Amyloidosis |
|
Tongue atrophy, Facial palsy, Xerostomia, Orthostatic hypotension due to autonomic dysfunction, H... |
ORPHA:85448 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Postaxial polydactyly |
OMIM:219730 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Wide nose, Macrotia, Anteverted nares, Short nose |
ORPHA:109 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal brainstem morphology |
ORPHA:255182 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Short nose, Epistaxis |
OMIM:277450 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Hydrocephalus, Aortic valve... |
OMIM:231005 |
| Malan Syndrome |
|
Short nose |
OMIM:614753 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Postaxial hand polydactyly, Orofacial cleft, Scoliosis, Low-set ears |
ORPHA:1454 |
| Lelis Syndrome |
|
Carious teeth, Mandibular prognathia, Hypodontia, Furrowed tongue |
ORPHA:140936 |
| Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Depressed nasal bridge, Anteverted nares, Short nose, Sensorineural hearing impairment |
ORPHA:2719 |
| Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Redundant neck skin,... |
ORPHA:2729 |
| Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Cleft soft palate, Smooth philtrum, Micrognathia |
OMIM:614526 |
| Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis |
ORPHA:54028 |
| Gapo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short nose, Protruding ear |
OMIM:230740 |
| Mucopolysaccharidosis, Type Iiid |
|
Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Ovoid thoracolumbar vertebrae, H... |
OMIM:252940 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Tethered cord, Spina bifida |
OMIM:619480 |
| Peroxisome Biogenesis Disorder 4B |
|
Short nose, Sensorineural hearing impairment |
OMIM:614863 |
| Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Esophageal atresia, Sensorineural hearing impairme... |
ORPHA:3157 |
| Grange Syndrome |
|
Finger clinodactyly, Syndactyly, Brachydactyly |
OMIM:602531 |
| Dextrocardia |
|
Abnormal rib morphology |
ORPHA:1666 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Syndactyly, Scapular winging, Short metacarpal, Thoracolumbar scoliosis, Single transverse palmar... |
OMIM:150230 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Enamel hypoplasia, Polymic... |
OMIM:618874 |
| Geleophysic Dysplasia 1 |
|
Thickened helices, Short nose, Anteverted nares |
OMIM:231050 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Joint laxity, Natal tooth, Dental crowding, Hypertelorism, Micrognathia, Carious teeth, Supernume... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Joint laxity, Natal tooth, Dental crowding, Hypertelorism, Micrognathia, Carious teeth, Supernume... |
ORPHA:353277 |
| Kid Syndrome |
|
Coxa valga, Equinus calcaneus, Patellar hypoplasia, Knee flexion contracture, Arthritis, Palmopla... |
ORPHA:477 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Pes planus, Micrognathia, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Cutaneou... |
OMIM:620029 |
| Toriello-Lacassie-Droste Syndrome |
|
Short nose, Anteverted nares, Abnormality of the ear, Hearing impairment |
ORPHA:3339 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnorma... |
ORPHA:68 |
| Opsismodysplasia |
|
Short nose, Depressed nasal bridge |
ORPHA:2746 |
| 1Q21.1 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Hydrocephalus, High palate, Long philtrum, Ankyloglossia |
ORPHA:250989 |
| Hereditary Mucoepithelial Dysplasia |
|
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Delayed closure of the anterior fontanelle, Short toe, Recurrent mandibular subluxations, Limb un... |
OMIM:225410 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Frontal bossing, Smooth philtrum, Thin upper lip vermilion, Hypertelorism,... |
OMIM:619841 |
| Developmental And Epileptic Encephalopathy 89 |
|
Death in childhood, Limb undergrowth, Talipes equinovarus, Narrow chest, Scoliosis, Neonatal death |
OMIM:619124 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Short nose, Sensorineural hearing impairment, Depressed nasal bridge, Underdeveloped nasal alae |
OMIM:616007 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Abnormal brainstem morphology |
ORPHA:300573 |
| Mucoepithelial Dysplasia, Hereditary |
|
Erythematous oral mucosa, Hearing impairment, Furrowed tongue |
OMIM:158310 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Melkersson-Rosenthal Syndrome |
|
Facial palsy, Cheilitis, Furrowed tongue, Macroglossia, Abnormal autonomic nervous system physiology |
ORPHA:2483 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Depressed nasal bridge, Underfolded helix, Overfolded helix, Prominent antihelix, Short nose |
OMIM:268400 |
| Tooth Agenesis, Selective, 4 |
|
Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ... |
OMIM:150400 |
| Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Chand Syndrome |
|
Hypertelorism, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agen... |
ORPHA:1401 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Sacral dimple, Single transverse palmar crease, Clinodacty... |
OMIM:223370 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Umbilical hernia, Cardiomegaly |
OMIM:618143 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrocephalus, Optic atrophy, Low-set ears, Stomatitis, Glossitis, Smooth philtrum |
ORPHA:79282 |
| Rothmund-Thomson Syndrome Type 2 |
|
Delayed eruption of teeth, Joint dislocation, Short metacarpal, Aplasia/hypoplasia involving bone... |
ORPHA:221016 |
| Monosomy 13Q34 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Posteriorly rotated ears, Abnormal earlob... |
ORPHA:96168 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Short nose |
ORPHA:329178 |
| Leukocyte Adhesion Deficiency |
|
Coarse facial features, Sinusitis, Osteomyelitis, Severe periodontitis, Abnormality of the dentit... |
ORPHA:2968 |
| Alg9-Cdg |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Underdeveloped nasal alae, Large flesh... |
ORPHA:79328 |
| Jacobsen Syndrome |
|
Low-set ears, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:147791 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
| Specc1L-Related Hypertelorism Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Abnormal helix morphology, Low-set ears, Short nose |
ORPHA:1519 |
| Distal Renal Tubular Acidosis |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct |
ORPHA:18 |
| Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Bifid uvu... |
OMIM:270400 |
| Sotos Syndrome |
|
Joint laxity, Hip contracture, Narrow face, Coarse facial features, Ankle flexion contracture, Cr... |
ORPHA:821 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Long nose, Short nose, Narrow nose |
OMIM:617602 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture |
OMIM:118650 |
| Microlissencephaly-Micromelia Syndrome |
|
Short nose |
ORPHA:50810 |
| Birk-Barel Syndrome |
|
Microretrognathia, Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft ... |
OMIM:612292 |
| Coffin-Siris Syndrome |
|
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Recurrent upper respiratory tract infe... |
ORPHA:1465 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Hypertelorism, Abnormality of the dentition, Generalized joint laxity, Osteoporosis, ... |
ORPHA:432 |
| Restrictive Dermopathy 1 |
|
Natal tooth, Rocker bottom foot, Kyphoscoliosis, Thin clavicles, Wide anterior fontanel, Hydropic... |
OMIM:275210 |
| Wiedemann-Steiner Syndrome |
|
Short nose, Wide nasal bridge, Low-set ears |
ORPHA:319182 |
| Semilobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal brainstem morphology, Abnormal heart morphology, Growth de... |
ORPHA:220386 |
| Familial Aortic Dissection |
|
Patent ductus arteriosus, Cardiomegaly |
ORPHA:229 |
| Alobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal brainstem morphology, Abnormal heart morphology, Growth de... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal brainstem morphology, Abnormal heart morphology, Growth de... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal brainstem morphology, Abnormal heart morphology, Growth de... |
ORPHA:93924 |
| Neuroocular Syndrome |
|
Unilateral deafness, Short uvula, Submucous cleft hard palate, Cupped ear, Anterior creases of ea... |
OMIM:619539 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Aortic valve atresia, Perimembrano... |
ORPHA:1457 |
| Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch, Short d... |
OMIM:118450 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Sacral dimple, Cleft soft palate, Tapered finger, Abnormal toe morphology, Kyphosi... |
ORPHA:268261 |
| Faciocardiomelic Syndrome |
|
Cuboid-shaped vertebral bodies, Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, ... |
OMIM:612731 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Delayed eruption of teeth, Death in infancy, Kyphosis, Abnormal rib morphology, Hip dislocation, ... |
ORPHA:534 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Short stature, Cardiomegaly, Dilated cardiomyopathy, Gro... |
OMIM:614921 |
| Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
| Ring Chromosome 7 Syndrome |
|
Small earlobe, Anteverted nares, Prominent nasal bridge, Prominent crus of helix, Wide nasal brid... |
ORPHA:1449 |
| Microphthalmia, Syndromic 1 |
|
Syndactyly, Lumbar hyperlordosis, Down-sloping shoulders, Kyphoscoliosis, Abnormal palmar dermato... |
OMIM:309800 |
| Bazex-Dupre-Christol Syndrome |
|
Furrowed tongue |
OMIM:301845 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Low insertion of columella, ... |
OMIM:619005 |
| Tetraamelia Syndrome 1 |
|
Micrognathia, Cleft upper lip, Hydrocephalus, Cleft palate, Low-set ears, Anal atresia |
OMIM:273395 |
| Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Short metacarpal, Metaphyseal sclerosis, Patellar aplasia, Finger symp... |
ORPHA:221008 |
| Cockayne Syndrome B |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:133540 |
| Cockayne Syndrome A |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:216400 |
| Spinocerebellar Ataxia Type 1 |
|
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:98755 |
| Hypomelia With Mullerian Duct Anomalies |
|
Postaxial hand polydactyly, Split hand |
OMIM:146160 |
| Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Intrauterine growth retardation, Cardiomegaly |
ORPHA:158687 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hypertrophic cardiomyopathy, Abnormal brainstem morphology |
ORPHA:79279 |
| Nestor-Guillermo Progeria Syndrome |
|
Rib osteolysis, Progressive clavicular acroosteolysis, Scoliosis, Thin ribs |
OMIM:614008 |
| Adult Syndrome |
|
Finger syndactyly, Toe syndactyly, Split foot |
ORPHA:978 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Short nose, Wide nasal bridge |
OMIM:618005 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Syndactyly, Postaxial polydactyly, Esophageal varix, Broad first metatarsal, Protruding ear, Ever... |
OMIM:619534 |
| Rapp-Hodgkin Syndrome |
|
Syndactyly, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma |
OMIM:129400 |
| Hypoglossia-Hypodactylia |
|
Micrognathia, Aglossia, Narrow mouth, Microglossia, Retrognathia |
OMIM:103300 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Glossitis |
OMIM:175500 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Congenital hip dislocation, Patellar aplasia, Inferio... |
OMIM:606170 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
| Hartnup Disease |
|
Glossitis, Gingivitis, Malabsorption |
ORPHA:2116 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Protruding ear, Low-set ears, Short nose, Abnormality of the outer ear |
OMIM:618820 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly |
OMIM:224120 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in infancy, Death in adolescence, Scoliosis, Death in childhood, Neonatal death |
OMIM:619055 |
| Myopathy, Myofibrillar, 7 |
|
Tongue atrophy, Facial palsy |
OMIM:617114 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:465508 |
| Ogden Syndrome |
|
Depressed nasal bridge, Underdeveloped nasal alae, Bifid nasal tip, Flared nostrils, Wide nasal b... |
OMIM:300855 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Flexion contracture, Deeply set eye, S... |
ORPHA:261537 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Elongated superior cerebellar peduncle, Abnormal brainstem morphology |
ORPHA:370022 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem, Ventricular septal defect |
OMIM:619306 |
| Deeah Syndrome |
|
Prominent nasal tip, Short nose, Low-set ears, Hearing impairment |
OMIM:619004 |
| Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Palmoplantar keratoderma, Sh... |
ORPHA:2908 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of peripheral somatosensory evoked potentials, Tongue atrophy, Decreased distal senso... |
ORPHA:466768 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Torticollis, Hand oligodactyly |
ORPHA:45358 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Bloom Syndrome |
|
Malar flattening, Narrow face, Agenesis of maxillary lateral incisor, Dolichocephaly |
OMIM:210900 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Anteverted nares, Choanal atresia, Narrow nose, Posteriorly rotated ears, Overfolded helix, Short... |
OMIM:301044 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Short stature, Cardiomegaly, Splenomegaly, Patent ductus... |
OMIM:602782 |
| Tubulinopathy-Associated Dysgyria |
|
Hypoplasia of the pons, Abnormal brainstem morphology |
ORPHA:467166 |
| Coffin-Siris Syndrome 12 |
|
Pectus excavatum, Short thumb, Hip subluxation, Slender finger, Cutaneous syndactyly, Ridged cran... |
OMIM:619325 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital hip dislocation, Single transverse palmar crease, Short ne... |
OMIM:601803 |
| Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Anteverted nares, Broad nasal tip, Prominent nose, Short nose, Underdevelope... |
ORPHA:177907 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly |
OMIM:608836 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short nose, Convex nasal ridge |
ORPHA:90154 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| Acrodermatitis Enteropathica |
|
Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis |
ORPHA:37 |
| Aprosencephaly Syndrome |
|
Anencephaly, Hand oligodactyly |
OMIM:207770 |
| Psoriasis 14, Pustular |
|
Geographic tongue, Furrowed tongue |
OMIM:614204 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Glossitis, Cleft palate |
ORPHA:79284 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr... |
OMIM:261740 |
| Viss Syndrome |
|
Chronic gastritis, Micrognathia, High, narrow palate, High palate, Broad uvula, Bifid uvula, Micr... |
OMIM:619472 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Abnormality of the dentition, Micrognathia, High, narrow palate, Supernumerary tooth... |
ORPHA:2108 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Flexion contracture, Deeply set eye, S... |
ORPHA:261552 |
| Hutchinson-Gilford Progeria Syndrome |
|
Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Short lingual frenulu... |
ORPHA:740 |
| Mckusick-Kaufman Syndrome |
|
Syndactyly, Congenital hip dislocation, Mesoaxial hand polydactyly, Postaxial hand polydactyly, P... |
OMIM:236700 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Hydrocephalus, Cardiomyopathy, Abnormal myocardium morphology |
ORPHA:228308 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
| Legius Syndrome |
|
Diaphyseal dysplasia, Vestibular schwannoma, Polydactyly, Scoliosis, Clinodactyly of the 5th fing... |
ORPHA:137605 |
| Cowden Syndrome |
|
Furrowed tongue, Hamartomatous polyposis, Macroglossia, Colorectal polyposis, High palate, Hearin... |
ORPHA:201 |
| Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Proximal placement of thumb, ... |
ORPHA:1896 |
| Liver Disease, Severe Congenital |
|
Macrocephaly at birth, Chronic gastritis, Depressed nasal bridge, Eczema, Narrow nasal ridge, Mic... |
OMIM:619991 |
| Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:615989 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Thin upper lip vermilion, Torticollis, High, narrow palate, Short uvula, Cupped ear, Hydrocephalu... |
OMIM:619475 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ... |
ORPHA:3427 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Celiac disease, Vertigo, Esophageal varix, Bilateral c... |
OMIM:301068 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Posteriorly rotated ears, Protruding ear, Short columella, Low-set ears, Short nose, Hearing impa... |
OMIM:601776 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Short nose |
ORPHA:476126 |
| Kallmann Syndrome |
|
Tooth agenesis, Sensorineural hearing impairment, Cleft palate |
ORPHA:478 |
| Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Short stature, Cardiomegaly |
OMIM:208000 |
| Neurocardiofaciodigital Syndrome |
|
Syndactyly, Thin vermilion border, High palate, Polydactyly, Hearing impairment |
OMIM:619869 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosu... |
ORPHA:3384 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Sensorineural hearing impairment, Orofacial cleft, Polydactyly |
ORPHA:17 |
| Frontofacionasal Dysplasia |
|
Bifid nose, Short nose, Midline defect of the nose, Underdeveloped nasal alae |
OMIM:229400 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures |
OMIM:612301 |
| Fucosidosis |
|
Splenomegaly, Hepatomegaly, Short stature, Cardiomegaly |
OMIM:230000 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Patent ductus arteriosus, Abnormal heart morphology, Growth delay, Abnormal cardiac... |
ORPHA:980 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
| Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Thin upper lip vermilion, Mandibular prognathia, Congenital Horner syn... |
OMIM:619503 |
| Hereditary Folate Malabsorption |
|
Glossitis, Cheilitis |
ORPHA:90045 |
| Penile Agenesis |
|
Posteriorly rotated ears, Short nose, Depressed nasal bridge |
ORPHA:49 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Micrognathia, Supernumerary tooth, Low-set ears, Recurrent otitis media, Ankyloglossia |
OMIM:619525 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Posteriorly rotated ears, Broad nasal tip, Wide nasal bridge, Protruding ear, Prominent nasal tip... |
OMIM:620330 |
| Joubert Syndrome 38 |
|
Molar tooth sign on MRI, Short stature |
OMIM:619476 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Short nose, Rhinitis, Depressed nasal bridge, Underdeveloped nasal alae |
OMIM:305100 |
| Wilson Disease |
|
Face of the giant panda sign |
OMIM:277900 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Short palm, Micromelia, Cleft upper lip, Esophageal atresia, Abnormal pelvis bone ossification, P... |
ORPHA:93271 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Short nose |
OMIM:252160 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Short stature, Abnormal midbrain morphology, Delayed puberty |
ORPHA:293987 |
| Mowat-Wilson Syndrome |
|
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Delayed eruption ... |
ORPHA:2152 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Short nose |
OMIM:252150 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
ORPHA:95430 |
| Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ankyloglossia |
OMIM:619352 |
| Bohring-Opitz Syndrome |
|
Intrauterine growth retardation, Abnormal cardiac septum morphology, Short stature, Cardiomegaly |
ORPHA:97297 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Narrow mouth, Ankylogloss... |
ORPHA:89842 |
| Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:603903 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Molar tooth sign on MRI, Disproportionate short-limb short stature |
OMIM:619479 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Wide nasal bridge, Narrow naris, Short... |
OMIM:617157 |
| Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
| 47,Xyy Syndrome |
|
Hydrocephalus, Abnormal brainstem morphology |
ORPHA:8 |
| Imerslund-Gräsbeck Syndrome |
|
Glossitis, Angular cheilitis |
ORPHA:35858 |
| Geleophysic Dysplasia 2 |
|
Short nose |
OMIM:614185 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Abnormal brainstem morphology, Short stature |
ORPHA:2720 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Low-set ears, Short nose, Tinnitus, Narrow nasal ridge |
OMIM:606721 |
| Generalized Pustular Psoriasis |
|
Geographic tongue, Cheilitis |
ORPHA:247353 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:232300 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Short nose |
ORPHA:505248 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology |
ORPHA:88619 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Hydrocephalus, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Aganglionic megacolon, Postaxial hand polydactyly, Hip dislocation, Cleft palate, Ectrodactyly, S... |
OMIM:308205 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Patent ductus arteriosus, Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology |
ORPHA:231160 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly |
ORPHA:163681 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly |
OMIM:618278 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal brainstem morphology, Birth length ... |
ORPHA:464311 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Pectus excavatum, Supernumerary ribs, Thin ribs |
OMIM:619127 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Restrictive Dermopathy |
|
Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Thin clavicles, Thin ribs, Increase... |
ORPHA:1662 |
| Coccidioidomycosis |
|
Broad ribs, Abnormality of the vertebral column |
ORPHA:228123 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Optic nerve hypoplasia, Cleft soft palate, Hydrocephalus, Optic atrophy, ... |
OMIM:619321 |
| Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly |
ORPHA:14 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:365 |
| Plague |
|
Chapped lip, Enterocolitis, Inflammation of the large intestine, Glossitis, Hearing impairment |
ORPHA:707 |
| Pachyonychia Congenita 3 |
|
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue |
OMIM:615726 |
| Williams Syndrome |
|
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... |
ORPHA:904 |
| Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Abnormal tongue morphology, Thick vermilion border, Ganglioneuromatosis |
ORPHA:653 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pectus excavatum, Prominent floating ribs |
ORPHA:2785 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Abnormal pons morphology, Abnormal brainstem morphology |
ORPHA:370997 |
| Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Short stature, Cardiomegaly |
ORPHA:51 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Decreased cervical spine mobility, Polydactyly, Osteoporosis of vertebrae, Abnormal digit morphol... |
ORPHA:95494 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Williams-Beuren Syndrome |
|
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Sensorineural hearing impairment, Larg... |
OMIM:194050 |
| Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
| Gangliocytoma |
|
Abnormal brainstem morphology |
ORPHA:251937 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Growth delay |
OMIM:256040 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
| Stüve-Wiedemann Syndrome |
|
Trismus, Smooth tongue, Abnormal autonomic nervous system physiology, Abnormality of the dentition |
ORPHA:3206 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Meckel Syndrome, Type 7 |
|
Postaxial foot polydactyly |
OMIM:267010 |
| Glucagonoma |
|
Stomatitis, Intestinal obstruction, Glossitis, Steatorrhea |
ORPHA:97280 |
| Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Narrow chest, Scoliosis, Thin ribs |
OMIM:264090 |
| Encephalocraniocutaneous Lipomatosis |
|
Abnormal cartilage morphology, Osteochondrosis |
ORPHA:2396 |
| Microsporidiosis |
|
Glossitis |
ORPHA:2552 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Erosion of oral mucosa, Anal fissure, Oral mucosal blisters, Carious teeth, Narrow mouth, Esophag... |
ORPHA:79408 |
| Kawasaki Disease |
|
Glossitis, Cheilitis |
ORPHA:2331 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Abnormal brainstem morphology |
ORPHA:93256 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Short stature, Cardiomegaly, Aortic valve calcification, Subvalvular ... |
OMIM:182250 |
| Carney Complex |
|
Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Abnormal hard palate morpho... |
ORPHA:1359 |
| Encephalocraniocutaneous Lipomatosis |
|
Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:613001 |
