Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Accessory oral frenulum, Overfolded helix... |
ORPHA:79113 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Narrow nasal bridge, Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle ear, Atr... |
ORPHA:3236 |
Braddock-Carey Syndrome 2 |
|
Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory c... |
OMIM:619981 |
Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Abnor... |
ORPHA:1988 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... |
OMIM:609166 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Broad nasal tip, Micrognathia, Cleft upper lip, Cleft palate, Small thenar eminence, Microtia, Bi... |
OMIM:239800 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Branchiootic Syndrome |
|
Branchial fistula, Facial palsy, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnorma... |
ORPHA:52429 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... |
ORPHA:3268 |
Lambotte Syndrome |
|
Retrognathia, Atresia of the external auditory canal, Narrow mouth, Macrotia, Convex nasal ridge |
OMIM:245552 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
Hemifacial Microsomia With Radial Defects |
|
Non-midline cleft lip, Orofacial cleft, Cleft palate, Microtia, Atresia of the external auditory ... |
OMIM:141400 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Small hypothenar eminence, Micrognathia, Grayish enamel, High, narrow ... |
ORPHA:2980 |
Otofaciocervical Syndrome |
|
Scapular winging, Anteverted nares, Depressed nasal bridge, Protruding ear, Abnormal antihelix mo... |
ORPHA:2792 |
Bor Syndrome |
|
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... |
ORPHA:107 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormality of the inne... |
ORPHA:2549 |
Johnson Neuroectodermal Syndrome |
|
Choanal atresia, Facial palsy, Carious teeth, Bulbous nose, Anosmia, Cleft palate, Protruding ear... |
ORPHA:2316 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... |
ORPHA:2779 |
Nager Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Abnormal nasal morphology, Hypoplasia of the max... |
ORPHA:245 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... |
OMIM:128980 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Thenar muscle atrophy, Bifid nasal tip, Microtia, Bifid nose, Atresia of the external auditory ca... |
ORPHA:2213 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Hemivertebrae, Short r... |
OMIM:173800 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Acrocraniofacial Dysostosis |
|
Micrognathia, Short philtrum, Abnormality of the malleus, Triphalangeal thumb, Conductive hearing... |
ORPHA:949 |
Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of finger, Congenital diaphrag... |
ORPHA:1488 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Anteverted nares, Choanal atresia, Micrognathia, Esophageal atresia, Deep philtrum, Cleft palate,... |
OMIM:610536 |
Ciliary Dyskinesia, Primary, 30 |
|
Nasal polyposis, Absent outer dynein arms, Asthma, Bronchiectasis, Respiratory insufficiency, Dec... |
OMIM:616037 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Bronchiect... |
OMIM:617092 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Micrognathia, Cleft palate, Microtia, Atresia of the external auditory canal, Conductive hearing ... |
OMIM:300946 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Micrognathia, Glossoptosis, High palate, Conductive hearing impairment, Antev... |
OMIM:611209 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Narrow greater sciatic notc... |
OMIM:156530 |
Ciliary Dyskinesia, Primary, 15 |
|
Neonatal respiratory distress, Nasal polyposis, Wheezing, Recurrent pneumonia, Abnormal axonemal ... |
OMIM:613808 |
Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Bronchiectasis, Skin ulcer, Chronic otitis media, Emphysema, Chronic sinusitis |
OMIM:604571 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Nasal polyposis, Sinusitis, Bronchiectasis, Absent inner and outer dynein a... |
OMIM:606763 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Depressed nasal bridge, Abnormal rib morphology, Wide nasal bridge, Co... |
ORPHA:1513 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Carious t... |
ORPHA:2501 |
Mullegama-Klein-Martinez Syndrome |
|
Congenital diaphragmatic hernia, Prominent nose, Micrognathia, Short philtrum, Bifid uvula, Depre... |
OMIM:301022 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Cleft upper lip, Wide nasal b... |
OMIM:106260 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the ve... |
ORPHA:2790 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology |
OMIM:259270 |
Becker Nevus Syndrome |
|
Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, ... |
ORPHA:64755 |
Diamond-Blackfan Anemia 10 |
|
Posteriorly rotated ears, Choanal atresia, Congenital diaphragmatic hernia, Micrognathia, Morgagn... |
OMIM:613309 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Dental m... |
OMIM:608940 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Camptodactyly,... |
OMIM:608257 |
Crouzon Syndrome |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, High palate, Atresia of the ex... |
OMIM:123500 |
Deafness, X-Linked 7 |
|
Posteriorly rotated ears, Wide nasal bridge, Atresia of the external auditory canal, Stenosis of ... |
OMIM:301018 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Camptodactyly of fin... |
ORPHA:1703 |
Ciliary Dyskinesia, Primary, 22 |
|
Neonatal respiratory distress, Nasal polyposis, Bronchiectasis, Decreased nasal nitric oxide, Abs... |
OMIM:615444 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Depressed nasal bridge, Craniof... |
OMIM:122860 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Wide an... |
OMIM:601390 |
Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Respiratory ... |
OMIM:608647 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Skeletal muscle atrophy, Posteriorly rotated ears, Rocker bottom foot, Microgna... |
OMIM:618393 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... |
OMIM:250460 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... |
ORPHA:50815 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, P... |
OMIM:608728 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Posteriorly rotated ears, Dental crowding, Abnormality of the middle e... |
ORPHA:2789 |
Verloove Vanhorick-Brubakk Syndrome |
|
Micrognathia, Non-midline cleft lip, Cleft palate, Microtia, Atresia of the external auditory can... |
ORPHA:3429 |
Fibrochondrogenesis 2 |
|
Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplast... |
OMIM:614524 |
Ciliary Dyskinesia, Primary, 19 |
|
Nasal polyposis, Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Rhinitis, Re... |
OMIM:614935 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Tented upper lip vermilion, Depressed nasal bridge, Micrognathia, Hypoplasia... |
OMIM:615546 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Ti... |
OMIM:223800 |
Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Nasal polyposis, Intestinal malrotation, Productive cough, Wheezin... |
ORPHA:244 |
Ciliary Dyskinesia, Primary, 42 |
|
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... |
OMIM:618695 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... |
OMIM:609616 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Micrognathia, Abnormal rib morphology, Abnormal pelv... |
ORPHA:2097 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Lumbar h... |
OMIM:256050 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morpholo... |
ORPHA:93351 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormality of the philtrum, Prominent nasal bridge, Hypoplasia of the pre... |
ORPHA:2673 |
20P12.3 Microdeletion Syndrome |
|
Broad hallux phalanx, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow mouth, Wide nasal... |
ORPHA:261295 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Micrognathia, High palate, Atresia of the external auditory canal, Narrow mouth, Conductive heari... |
OMIM:602471 |
Immunodeficiency 13 |
|
Nasal polyposis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasi... |
OMIM:615518 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Short ribs, Bell-shaped thorax |
OMIM:187750 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal, Abno... |
OMIM:221320 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Clinodactyly, Short palm, Duplication ... |
OMIM:268310 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Abnormal pinna morphology, Bulbous nose, Wide nasal ... |
ORPHA:1231 |
Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Vertebral segmentation defe... |
ORPHA:2631 |
Aural Atresia, Congenital |
|
Conductive hearing impairment, Hyposmia, Atresia of the external auditory canal |
OMIM:607842 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... |
OMIM:617405 |
Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, U-Shaped upper lip vermilion, Thin upper lip vermilion, Depressed nasal br... |
OMIM:601808 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... |
OMIM:602111 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Cupped ear, Short philtrum, Macrotia |
ORPHA:93945 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Coxa vara, Pectus carinatum, Clinodactyly of the 5th finger, Syndactyly, Anteverted nares, Wide n... |
OMIM:614701 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finge... |
ORPHA:628 |
Multiple Synostoses Syndrome 1 |
|
Symphalangism affecting the phalanges of the hand, Hypoplastic nasal septum, Cutaneous finger syn... |
OMIM:186500 |
Lujan-Fryns Syndrome |
|
Dental crowding, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Pectus excavatum,... |
ORPHA:776 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ... |
ORPHA:2635 |
Frontonasal Dysplasia 1 |
|
Median cleft lip, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Postaxial hand pol... |
OMIM:136760 |
Thoracomelic Dysplasia |
|
Short neck, Hyperlordosis, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shape... |
ORPHA:1803 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... |
ORPHA:2311 |
Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Micrognathia, Short neck, Knee flexion contracture, Intercrural pterygium, Camptodactyly of toe, ... |
OMIM:265000 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Abnormal number of incisors, Prominent nose, Coxa valga, Finger clinodactyly, Patellar subluxatio... |
ORPHA:2958 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Pectus carinatum, Downturned corners o... |
ORPHA:1507 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Ulnar dev... |
ORPHA:1529 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Anteverted nares, Posteriorly rotated ears, Depressed nasal bridge, Choanal atresia,... |
OMIM:123790 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... |
OMIM:184252 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Pneumonia, Absent frontal sinuses, Absent outer dynein arms, Anosmia, Bronchiect... |
OMIM:244400 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnormal form of the ver... |
ORPHA:1354 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Narrow nasal bridge, Broad hallux phalanx, Toe syndactyly, Micrognathia, M... |
ORPHA:3082 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Anteverted nares, Abnormal dental enamel morphology, Depressed nasal bridg... |
ORPHA:2180 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... |
ORPHA:429 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Posteriorly rotated ears, Anteverted nares, Micrognathia, Dyspnea, Depresse... |
ORPHA:1832 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Toe syndactyly, Broad hallux, Underdeveloped nasal alae, Long nose, Congenital ... |
OMIM:184460 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... |
ORPHA:93267 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Protruding ear, Smooth philtru... |
OMIM:618737 |
Lipoid Proteinosis |
|
Nasal polyposis, Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip ver... |
ORPHA:530 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Clef... |
ORPHA:261236 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Anterior ... |
OMIM:211350 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Tapered toe, Aggressive behavior, Celiac disease, Tapered finger, Bulbous nose, Sensorineural hea... |
ORPHA:544488 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of the philtrum, Non-midline cleft lip, Cleft pala... |
ORPHA:1770 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal form of the vertebral bodi... |
ORPHA:3104 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Nasal polyposis, Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini... |
OMIM:242670 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodactyly of the 5th ... |
ORPHA:915 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Wide nasal bridge, Protruding ear |
OMIM:618302 |
Renpenning Syndrome |
|
Mandibular prognathia, Skeletal muscle atrophy, Macrodontia, Prominent nose, Pectus excavatum, Hi... |
ORPHA:3242 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Multiple pterygia, Micrognathia, Orofacial cleft, Symphalangism affectin... |
ORPHA:2990 |
Aase-Smith Syndrome |
|
Camptodactyly of finger, Trismus, Aplasia/Hypoplasia of the radius, Talipes equinovarus, Abnormal... |
ORPHA:916 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, High palate, Na... |
OMIM:213980 |
Pfeiffer Syndrome Type 2 |
|
Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Cleft palate, High palate, Atres... |
ORPHA:93259 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
Pallister-Hall Syndrome |
|
Anteriorly placed anus, Neonatal death, Syndactyly, Mesoaxial foot polydactyly, Anteverted nares,... |
OMIM:146510 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Asthma, Nasal Polyps, And Aspirin Intolerance |
|
Asthma, Nasal polyposis, Aspirin-induced asthma, Bronchoconstriction |
OMIM:208550 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Prominent nasal bridge, Camptodactyly of finger, Aggressive behavior, Hypoplasia of the maxilla, ... |
ORPHA:85279 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect |
OMIM:608681 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Abnormal pinna morphology, Choanal atresia, Absent tragus, Cleft lip,... |
OMIM:603457 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... |
ORPHA:168549 |
Auriculocondylar Syndrome 2A |
|
Overfolding of the superior helices, Respiratory distress, Posteriorly rotated ears, Dental crowd... |
OMIM:614669 |
Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Short metacarpal, Thoracolumbar kyphoscoliosis, Hip subluxation, Pec... |
OMIM:618853 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
Smith-Mccort Dysplasia 1 |
|
Barrel-shaped chest, Short metacarpal, Multicentric femoral head ossification, Iliac crest serrat... |
OMIM:607326 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, De... |
OMIM:112350 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Short neck, Micrognathia, Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the... |
ORPHA:1486 |
Ghosal Hematodiaphyseal Dysplasia |
|
Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal form of ... |
ORPHA:1802 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1248 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Micrognathia, Downturned corners of mouth, Choanal stenosis, Severe sensorineural... |
OMIM:620186 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Hypoplast... |
OMIM:607778 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Abnormality of the ... |
ORPHA:276422 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Nasal polyposis, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Recurrent sinusitis... |
OMIM:620197 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Oligodontia of primary teeth, Bilateral conductive hearing impairment, Atresia of the external au... |
ORPHA:2010 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Craniosynostosis, Micrognathia, Split hand, Abnormal rib morphology, Cleft pal... |
ORPHA:2145 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... |
OMIM:271650 |
Mycophenolate Mofetil Embryopathy |
|
Congenital diaphragmatic hernia, Micrognathia, Tracheoesophageal fistula, Orofacial cleft, Anotia... |
ORPHA:268249 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Pectus excavatum, Short neck, Hyperlordosis, Kyphosis... |
ORPHA:2522 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... |
OMIM:184250 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
Isotretinoin-Like Syndrome |
|
Anteverted nares, Micrognathia, Aplasia/Hypoplasia of the inner ear, Cleft palate, Anotia, Microt... |
ORPHA:2306 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspon... |
OMIM:602271 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Bowing of the long bones, Delayed cranial suture closure, Coxa valga, ... |
ORPHA:2484 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Gen... |
ORPHA:2831 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... |
ORPHA:3232 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Posteriorly rotated ears, Choanal atresia, Abnormality of the philtrum, Mis... |
ORPHA:2759 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Orofacial cleft, Fused thoracic vertebrae, Syndactyly, Anteverted ... |
ORPHA:97360 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Abnormal pinna morphology, Intestinal malrotation, Micrognathia, Pectus excavatum, Underdeveloped... |
ORPHA:77300 |
Monosomy 9P |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Micrognathia, Congenital diaphragmatic... |
ORPHA:261112 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Coronal craniosynostosis, High... |
OMIM:614188 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Craniosynostosis, Pyloric stenosis, Sensorineural ... |
ORPHA:261197 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Conductive hearing impairment, Pyloric stenosis, Atresia of the external auditory canal |
OMIM:133705 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Oral ulcer, Skin ulcer, Respiratory insufficiency, Concave nasal ridge, Cough, Chronic... |
OMIM:608710 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Abnormal pinna morphology, Underfolded helix, Camptodactyly of finger, Abnorma... |
ORPHA:178303 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Posteriorly rotated ears, Thick nasal alae, Episodic tachypnea, Micrognathia... |
ORPHA:163961 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Tapered finger, Short neck, Multiple joint dislocation, Hip dislocation, ... |
OMIM:618395 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Prominent ... |
ORPHA:1307 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Anteverted nar... |
ORPHA:2412 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scol... |
OMIM:259440 |
Pai Syndrome |
|
Nasal polyposis, Depressed nasal bridge, Median cleft lip, Cleft palate, Abnormal oral frenulum m... |
ORPHA:1993 |
Pseudoachondroplasia |
|
Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarth... |
OMIM:177170 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Dental malocclusion, Abnormal pelvic girdle bone morphology, Metacarpal... |
OMIM:144750 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... |
OMIM:134780 |
Kbg Syndrome |
|
Tented upper lip vermilion, Protruding ear, Widely-spaced maxillary central incisors, Oligodontia... |
OMIM:148050 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Lateral clavicle hook, Hypoplasia of the... |
OMIM:600920 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Colonic diverticula, Aganglionic megacolon, Intestinal malrotation, Intestinal pseudo-obstruction... |
OMIM:243180 |
Treacher Collins Syndrome 1 |
|
Choanal atresia, Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Microtia, Abnormal pa... |
OMIM:154500 |
Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Epistaxis, Impulsivity, Broad nasal tip, Hypoplasia of the maxilla, Aggre... |
ORPHA:293939 |
Keipert Syndrome |
|
Broad hallux phalanx, Tented upper lip vermilion, Depressed nasal bridge, Prominent nasal bridge,... |
ORPHA:2662 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Abnormal dental enamel morphology, Coxa valga, Grayi... |
ORPHA:582 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ... |
ORPHA:239 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ... |
OMIM:228520 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar... |
ORPHA:1452 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Respiratory insufficiency, Abnormal metacarpal morpho... |
ORPHA:93262 |
Coxopodopatellar Syndrome |
|
Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog... |
ORPHA:1509 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Micrognathia... |
ORPHA:536516 |
Kapur-Toriello Syndrome |
|
Posteriorly rotated ears, Intestinal malrotation, Bulbous nose, Orofacial cleft, Atresia of the e... |
ORPHA:2328 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later... |
OMIM:269250 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... |
ORPHA:2616 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Decreased muscle mass, Wormian bones, Posteriorly rotated ears, Dental crowding... |
OMIM:130720 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperextensibility of the finger joints, Dental crowding, Micrognathia, Hypoplasia of the maxilla... |
OMIM:309520 |
Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Wide nose, Cleft upper lip, Rib fusion, Cleft palate, Broad ph... |
ORPHA:1394 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome |
|
Atresia of the external auditory canal, Hearing impairment |
ORPHA:3023 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Cleft palate, High palat... |
OMIM:246560 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... |
OMIM:613686 |
Ear-Patella-Short Stature Syndrome |
|
Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Hypoplas... |
ORPHA:2554 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Abnormal clavicle morphology, Micrognathia, Abnormality of the gingiva, Tib... |
ORPHA:798 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Low-set, posteriorly rotated ears, Delayed eruption of teeth, Abnormal dental morphology, Alveola... |
ORPHA:2972 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Flared ... |
OMIM:156510 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... |
ORPHA:85166 |
Acrofacial Dysostosis 1, Nager Type |
|
Posteriorly rotated ears, Prominent nasal bridge, Congenital diaphragmatic hernia, Micrognathia, ... |
OMIM:154400 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Skeletal muscle atrophy, Hypoplasia of the maxilla, Flexion contracture, Protruding ear, Pectus c... |
ORPHA:481152 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... |
OMIM:253000 |
Ablepharon Macrostomia Syndrome |
|
Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Underdeveloped nasal alae, Hyp... |
ORPHA:920 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Nasal polyposis, Sinusitis, Intestinal obstruction, Malabsorption, Cough, Asthma, Respi... |
ORPHA:183 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Redundant skin, Hypoplasia of the maxilla, Protruding ear, Pectus carina... |
ORPHA:192 |
Cleft Velum |
|
Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Conductive hearing impai... |
ORPHA:99772 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality... |
ORPHA:163966 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh... |
OMIM:300106 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Protruding e... |
OMIM:300534 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal form of the vertebral bodies, Abnormal pelvic girdle bone morphology, Hip dysplasia, Sco... |
ORPHA:2370 |
Osteogenesis Imperfecta, Type V |
|
Hyperextensibility of the finger joints, Vertebral wedging, Abnormal pelvic girdle bone morpholog... |
OMIM:610967 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Nasal polyposis, High palate, Bifid uvula, Median cleft lip |
OMIM:155145 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Micrognathia |
OMIM:602196 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Micrognathia, Wide anterior fontanel, Kyphosis, Thin ribs, Tibial bowing, Sl... |
OMIM:259420 |
Cog1-Cdg |
|
Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Micrognathia, Short nec... |
ORPHA:263508 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... |
OMIM:210720 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormal ri... |
ORPHA:3035 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro... |
ORPHA:1350 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Prominent nasal tip, Scapular winging, Anteverted nares, Depressed nas... |
OMIM:612921 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Obtuse angle of mandible, Coxa valga, Short tubular bones of the hand, Micrognathia, Wide anterio... |
ORPHA:85184 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Sensorineural hearing impairment, Osteoarthritis, Cleft palate, Abnorm... |
ORPHA:90653 |
Recon Progeroid Syndrome |
|
Attached earlobe, Skeletal muscle atrophy, Prominence of the premaxilla, Anteverted nares, Promin... |
OMIM:620370 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... |
OMIM:151210 |
Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Choanal atresia, Cleft palate, Atresia of the external auditory canal,... |
OMIM:612562 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Micrognathia, Cleft palate, Glossoptosis, Atresia of the external auditory cana... |
ORPHA:1393 |
Coxoauricular Syndrome |
|
Microtia, Atresia of the external auditory canal, Hearing impairment |
ORPHA:1508 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, Choanal stenos... |
OMIM:218600 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wide anterior fontanel, Atresia of the external auditory canal |
OMIM:601356 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Prominent nasal bridge, Pectus excavatum, Hypoplasia of the maxilla, Pectu... |
OMIM:300676 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys... |
ORPHA:93316 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
Warburg-Cinotti Syndrome |
|
Posteriorly rotated ears, Dental crowding, Narrow nose, Underdeveloped nasal alae, Ankle flexion ... |
OMIM:618175 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short... |
ORPHA:968 |
14Q22Q23 Microdeletion Syndrome |
|
Posteriorly rotated ears, Underdeveloped nasal alae, Micrognathia, Cupped ear, Downturned corners... |
ORPHA:264200 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ... |
ORPHA:2050 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Missing ribs, Small hand, Rib fusion, Hip dysplasi... |
ORPHA:50 |
Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi... |
ORPHA:56305 |
Crouzon Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Narrow palate, Respiratory insufficiency, Multiple su... |
ORPHA:207 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Atresia of the external auditory canal |
OMIM:209770 |
Kagami-Ogata Syndrome |
|
Long clavicles, Anteverted nares, Depressed nasal bridge, Diastasis recti, Micrognathia, Hypoplas... |
OMIM:608149 |
Atelosteogenesis, Type I |
|
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Verteb... |
OMIM:108720 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Broad long bones, Coxa valga, Carious teeth, Wide anterior fo... |
OMIM:269300 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Clinodactyly of the 5th finger, Conductive ... |
ORPHA:264450 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Skeletal muscle atrophy, Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contrac... |
OMIM:218000 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Abnormal clavicle morphology, Mi... |
ORPHA:958 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... |
OMIM:137550 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Anal atresia |
ORPHA:93950 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... |
ORPHA:1788 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... |
ORPHA:2319 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm |
ORPHA:168555 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo... |
OMIM:187600 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hume... |
ORPHA:93333 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, Hearing ... |
ORPHA:2021 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Coxa vara, Irregula... |
OMIM:616716 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Abnormal pinna morphology, Anteverted nares, Posteriorly rotated ears, Hypopla... |
ORPHA:228396 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the max... |
OMIM:224690 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... |
OMIM:250420 |
Acrodysostosis |
|
Mandibular prognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Short metatarsal, Hypopl... |
ORPHA:950 |
Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Choanal atresia, Camptodactyly of finger, Ar... |
ORPHA:83 |
Pycnodysostosis |
|
Abnormal clavicle morphology, Obtuse angle of mandible, Persistent open anterior fontanelle, Micr... |
ORPHA:763 |
Dysosteosclerosis |
|
Micrognathia, Increased intervertebral space, Hypoplastic vertebral bodies, Irregular vertebral e... |
OMIM:224300 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology |
ORPHA:1506 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Wide nose, Cleft ala nasi, Abnormal pinna morphology, Depres... |
OMIM:219000 |
Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Thin ribs, ... |
OMIM:620076 |
Achondrogenesis Type 1B |
|
Micromelia, Micrognathia, Short neck, Short thorax, Abnormal rib morphology, Short foot, Narrow c... |
ORPHA:93298 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... |
OMIM:615633 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
7Q31 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Hyperactivity, Torticollis, Prominent fingertip pads, Wide nasal ridge, ... |
ORPHA:251061 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,... |
ORPHA:439822 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Absent radius, Lateral clavicle h... |
OMIM:171480 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Pectus carinatu... |
OMIM:212720 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Hypoplasia of the primary te... |
OMIM:257850 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Abnormality of the dentition, Broad nasal tip |
ORPHA:2776 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla, Sensorineural hearing impairment, Genu valgum, Slender long bones with... |
OMIM:608154 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Micrognathia, Ragged-red muscle fibers, Depressed nasal ridge, Generalized limb... |
OMIM:600462 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Adenoiditis, Flexion contracture, Otitis media, Aspiration pneumoni... |
ORPHA:581 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Rhizomeli... |
OMIM:616229 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Aplastic clavicle, Missing ribs, C... |
ORPHA:2769 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... |
ORPHA:2345 |
Holt-Oram Syndrome |
|
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... |
ORPHA:392 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of ... |
OMIM:253010 |
Eiken Syndrome |
|
Broad femoral neck, Persistence of primary teeth, Delayed epiphyseal ossification, Multiple uneru... |
OMIM:600002 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Downturned corners of mou... |
ORPHA:280 |
Fraser Syndrome |
|
Low-set, posteriorly rotated ears, Death in infancy, Anal stenosis, Cleft ala nasi, Depressed nas... |
ORPHA:2052 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Skeletal muscle atrophy, Abnormal pinna morphology, Prominent nasal br... |
ORPHA:3068 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Cenani-Lenz Syndrome |
|
High, narrow palate, Protruding ear, Short philtrum, Foot oligodactyly, Synostosis of carpal bone... |
ORPHA:3258 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, An... |
OMIM:613717 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Small hand, Th... |
ORPHA:93324 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... |
OMIM:300863 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the nose, Nasal polyposis, Intestinal obstruction, Abnormality of the nose, Esophagea... |
ORPHA:2869 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Triphalangeal thumb, Clinodactyly of the 5th finger, Conductive hearin... |
ORPHA:794 |
Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,... |
OMIM:619636 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short philtrum... |
OMIM:194190 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Wormian bones, Beaded ribs, Tibial bowing, Thin ribs, Bell... |
OMIM:166210 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Hearing impairment, Broad nasal tip, Micrognathia, Hypoplasia of the maxil... |
OMIM:620157 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Congenital muscular torticollis, Downturned corners of mouth, Conductive... |
ORPHA:2215 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Metaphyseal widening, Flared metaphysis, Abnormal pelvic girdle bone morph... |
OMIM:123000 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Auriculocondylar Syndrome 1 |
|
Overfolding of the superior helices, Posteriorly rotated ears, Dental crowding, Apnea, Micrognath... |
OMIM:602483 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... |
OMIM:311300 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Metaphyseal wide... |
OMIM:182212 |
Zttk Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Protruding ear, Downturned corners of mouth, High... |
OMIM:617140 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Cupped ear, Wide nasal bridge, Low-set ears |
OMIM:167730 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Anteverted nares, Underdeveloped nasal alae, Flexion contracture, Congenital pyloric atresia, Mic... |
OMIM:612138 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Anteverted nares, Cleft upper lip, Pectus ex... |
OMIM:305400 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cuppin... |
OMIM:300232 |
Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula... |
OMIM:252600 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ... |
OMIM:201000 |
Microtia |
|
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Attention de... |
ORPHA:83463 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Hypoplasia of the maxilla, Tachypnea, Depressed nasal ridge, Thick nasal alae, Neonatal respirato... |
ORPHA:79345 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Abnormal E... |
ORPHA:199302 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Skeletal muscle atrophy, Selective tooth agenesis, Limited elbow movement, Abs... |
OMIM:305620 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Pectus excavatum, Long fingers,... |
OMIM:614753 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow ches... |
OMIM:616300 |
Osteogenesis Imperfecta, Type Xviii |
|
Bowing of the long bones, Micrognathia, Thin ribs, Femoral bowing, Biconcave vertebral bodies, Wo... |
OMIM:617952 |
Sheldon-Hall Syndrome |
|
Ulnar deviation of the wrist, Tarsal synostosis, Micrognathia, Short neck, Ulnar deviation of fin... |
ORPHA:1147 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Postaxial polydactyl... |
OMIM:619142 |
Cleidocranial Dysplasia 2 |
|
Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Hypoplasia of the m... |
OMIM:620099 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Depressed nasal ridge, Orofacial cleft, High palate, Thickened helices, Conductive hearing impair... |
OMIM:607872 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Beaded ribs, Micrognathia, Flexion contracture, Large fleshy ears, Anteverted nares, Decreased fi... |
OMIM:616897 |
Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Micrognathia, Broad nasal tip, Wide nasa... |
OMIM:615524 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Multiple pterygia, Micrognathia, Cleft upper lip, Flexion co... |
OMIM:312150 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic il... |
OMIM:169550 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Broad met... |
ORPHA:1540 |
Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Apnea, Distal wideni... |
OMIM:602535 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... |
OMIM:272460 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Wide anterior fontane... |
OMIM:610915 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Tracheomalacia, Micrognath... |
ORPHA:513456 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Microretrognathia, Absent vertebral body mineralization, Broad long bones, S... |
OMIM:200610 |
Cousin Syndrome |
|
Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... |
OMIM:260660 |
Lowry-Maclean Syndrome |
|
Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Cong... |
ORPHA:2409 |
Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Persistent open anterior fontanelle, Bowing of the long bones, Abnormal dent... |
ORPHA:1798 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Micrognathia, Cleft upper lip, Cleft palate, Congenital contracture, Microtia, Atresia of the ext... |
OMIM:236670 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnorm... |
ORPHA:93311 |
Cardiospondylocarpofacial Syndrome |
|
Congenital diaphragmatic hernia, Pseudoepiphyses, Conductive hearing impairment, Anteverted nares... |
OMIM:157800 |
Axenfeld-Rieger Syndrome |
|
Anal stenosis, Depressed nasal bridge, Redundant skin, Hypoplasia of the maxilla, Wide nasal brid... |
ORPHA:782 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Aplasia of the ulna, Absen... |
OMIM:142900 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation, Short palm, Sho... |
ORPHA:93328 |
Symphalangism, Proximal, 1A |
|
Carpal synostosis, Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalange... |
OMIM:185800 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
Auriculocondylar Syndrome 3 |
|
Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ... |
OMIM:615706 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... |
ORPHA:2347 |
Shprintzen-Goldberg Syndrome |
|
Apnea, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Protruding ear, Pectus carin... |
ORPHA:2462 |
Barber-Say Syndrome |
|
Mandibular prognathia, Redundant skin, Micrognathia, Hypoplasia of the maxilla, High palate, Wide... |
OMIM:209885 |
Diamond-Blackfan Anemia 11 |
|
Bilateral cleft palate, Stenosis of the external auditory canal, Atresia of the external auditory... |
OMIM:614900 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Wormian bones, Short 4th metacarpal... |
OMIM:619638 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... |
OMIM:200600 |
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 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Proximal placement of thumb, Missing ribs, Rib fus... |
OMIM:304050 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Micromelia, Micrognathia, Short neck, Short thorax, Short foot, Narrow ch... |
ORPHA:93299 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micrognathia, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Absent nasal bridge, Narr... |
OMIM:617925 |
Cornelia De Lange Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Downturned corners of mouth, Widely spaced teeth, ... |
ORPHA:199 |
Meier-Gorlin Syndrome 3 |
|
Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Narrow chest, Genu varum... |
OMIM:613803 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal... |
ORPHA:90652 |
Mosaic Trisomy 8 |
|
Wide nose, Abnormal pinna morphology, Anteverted nares, Camptodactyly of finger, Micrognathia, Br... |
ORPHA:96061 |
Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Syndactyly, Brachydactyly, Depressed nasal bridge, Thoracic hypoplasia, Pos... |
OMIM:617895 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Respiratory distress, Hypoplasia of the maxilla, Short metatarsal, Eruptio... |
OMIM:166250 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the... |
ORPHA:193 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Proximal placement of thumb, Abnormal repetitive mannerisms, Self-mutilati... |
OMIM:212066 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Brachydactyly, Hypoplasia of the maxilla, Clinodactyly, Cleft palate, Low-set ears, Ri... |
OMIM:614261 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial... |
ORPHA:1427 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Apnea, Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Sm... |
OMIM:601559 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognath... |
OMIM:620369 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Cleft upper lip, Micrognathia, Abnormal rib morphology, Cleft palate, Conductive hearing impairme... |
OMIM:601076 |
Doors Syndrome |
|
Short lingual frenulum, Downturned corners of mouth, Widely spaced teeth, High palate, Anteverted... |
ORPHA:79500 |
Atelosteogenesis, Type Iii |
|
Radial bowing, Depressed nasal bridge, Sandal gap, Micrognathia, Hypoplasia of the maxilla, Elbow... |
OMIM:108721 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Bowing of the legs, Osteoarthritis, Enamel hypomineralization, Spin... |
OMIM:307800 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Multiple pterygia, Micrognathia, Flexion contracture, Depres... |
OMIM:253290 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlargement of the costochondra... |
OMIM:600081 |
Pallister-Hall Syndrome |
|
Depressed nasal ridge, Bifid uvula, Paroxysmal bursts of laughter, Low-set, posteriorly rotated e... |
ORPHA:672 |
Osteopetrosis, Autosomal Dominant 2 |
|
Mandibular osteomyelitis, Fractures of the long bones, Abnormality of the vertebral endplates, Ab... |
OMIM:166600 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Short neck, Triangular shaped distal phalanges of t... |
OMIM:271665 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Arachnodactyly, Kyphoscoliosis, Wide distal femoral metaphysis, Femoral bowing... |
OMIM:614856 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Beaded ribs, Trapezoidal distal femoral condyles, Vertebral hyperostosis, Abn... |
ORPHA:89936 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Redundant neck skin, Anteverted nares, Narrow nasal ridge, Bulbous nose, 2-3 t... |
OMIM:236500 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subp... |
OMIM:264700 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Redundant neck skin, Tented upper lip vermilion, Micrognathia, Hypoplasia ... |
ORPHA:96334 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... |
ORPHA:137888 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Flared metaphysis,... |
OMIM:602557 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Thin ribs, Slender long bone, Retrognathia, Brachydactyly |
OMIM:618265 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Microdontia, Bifid uvula,... |
OMIM:129400 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Micrognathia, Short neck, Barrel-shaped chest, Abnormally ossi... |
ORPHA:94068 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne... |
OMIM:601812 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch... |
OMIM:250220 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Torticollis, Overlapping fingers, Micrognathia, Increased variability in musc... |
OMIM:617022 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Capitate-hamate fusion, Postaxial hand polydactyly, Genu ... |
OMIM:225500 |
Trisomy 1Q |
|
Microretrognathia, Wide nose, Toe syndactyly, Depressed nasal bridge, Camptodactyly of finger, Co... |
ORPHA:261344 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Recurrent upper respiratory tract infections, Thick lower lip ve... |
ORPHA:583 |
Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Thick lower lip ... |
OMIM:613804 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognathia, Flat ca... |
OMIM:147891 |
Hypophosphatasia |
|
Bowing of the long bones, Craniosynostosis, Abnormal rib morphology, Narrow chest, Abnormal metap... |
ORPHA:436 |
Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Cholesteatoma |
OMIM:614113 |
Glass Syndrome |
|
Dental crowding, Apnea, Anterior tibial bowing, Micrognathia, Long nose, Conical tooth, Oligodont... |
OMIM:612313 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subp... |
OMIM:277440 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact... |
ORPHA:87 |
Pontine Tegmental Cap Dysplasia |
|
Facial palsy, Sensorineural hearing impairment, Rib fusion, Ankle clonus, Dysphagia, Aspiration |
OMIM:614688 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... |
ORPHA:1860 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers,... |
OMIM:613561 |
Fraser Syndrome 2 |
|
Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Rectal atresia, Atresia of the exte... |
OMIM:617666 |
Greenberg Dysplasia |
|
Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Tetraphocomelia, Hyp... |
OMIM:215140 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Delayed closure of the anterior fontanelle, Carious teeth, Thin clavicles, Small ... |
OMIM:244460 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Protrudi... |
ORPHA:261144 |
Cohen Syndrome |
|
Thoracic scoliosis, Short metacarpal, Facial hypotonia, Prominent nasal bridge, Micrognathia, Hyp... |
OMIM:216550 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Coxa v... |
OMIM:119600 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Wide cranial sutures, Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, La... |
OMIM:616294 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Anteverted nares, Micrognathia, Pectus excavatum, Submucous cleft hard palate, ... |
OMIM:619122 |
Osteogenesis Imperfecta, Type X |
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Multiple rib fractures, Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, Mi... |
OMIM:613848 |
Achondroplasia |
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Brachydactyly, Radial bowing, Rhizomelia, Short femur, Thoracic hypoplasia, Bowing of the legs, L... |
OMIM:100800 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
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Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... |
ORPHA:2491 |
Myopathy, Mitochondrial, And Ataxia |
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Mandibular prognathia, Micrognathia, Pectus excavatum, Distal amyotrophy, High palate, Pallor, In... |
OMIM:617675 |
Spastic Paraplegia 16, X-Linked |
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Restlessness, Facial hypotonia, Hypoplasia of the maxilla, Lower limb amyotrophy, Lower limb musc... |
OMIM:300266 |
Nablus Mask-Like Facial Syndrome |
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Hypoplasia of the maxilla, High palate, Small earlobe, Anteverted nares, Depressed nasal bridge, ... |
OMIM:608156 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
Phaver Syndrome |
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Broad hallux phalanx, Posteriorly rotated ears, Depressed nasal bridge, Camptodactyly of finger, ... |
ORPHA:2876 |
Melnick-Needles Syndrome |
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Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... |
OMIM:309350 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
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Mandibular prognathia, Hallux valgus, Hyperactivity, Cone-shaped epiphyses of the 3rd toe, Hypopl... |
ORPHA:397973 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... |
ORPHA:85167 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
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Short humerus, Rhizomelia, Micrognathia, Epiphyseal stippling, Abnormal pelvic girdle bone morpho... |
OMIM:222765 |
Frontorhiny |
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Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplasti... |
ORPHA:391474 |
Axenfeld-Rieger Syndrome, Type 2 |
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Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Wide nasal bridge, Short philtru... |
OMIM:601499 |
Cystic Fibrosis |
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Nasal polyposis, Sinusitis, Meconium ileus, Malabsorption, Reduced forced expiratory volume in on... |
ORPHA:586 |
Deafness, X-Linked 2 |
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Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Radio-Renal Syndrome |
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Respiratory distress, Depressed nasal bridge, Micrognathia, High, narrow palate, Dyspnea, Hypopla... |
ORPHA:3015 |
Omodysplasia 2 |
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Short humerus, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Hypoplastic distal hume... |
OMIM:164745 |
Acrofacial Dysostosis, Cincinnati Type |
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Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Retrognathia, Cleft palate, Femoral bow... |
OMIM:616462 |
Atelosteogenesis Type I |
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Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem... |
ORPHA:1190 |
Axial Mesodermal Dysplasia Spectrum |
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Abnormality of the knee, Micrognathia, Short neck, Missing ribs, Abnormal rib morphology, Abnorma... |
ORPHA:1834 |
Benign Paroxysmal Torticollis Of Infancy |
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Torticollis, Vertigo, Pallor |
ORPHA:71518 |
Nasopalpebral Lipoma-Coloboma Syndrome |
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Wide nose, Abnormality of cartilage of external ear, Hypoplasia of the maxilla, Cupped ear, Recur... |
ORPHA:2399 |
Primary Lateral Sclerosis, Juvenile |
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Pseudobulbar paralysis, Spasticity of facial muscles, Pallor, Dysphagia, Difficulty in tongue mov... |
OMIM:606353 |
Atelosteogenesis Type Ii |
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Cervical kyphosis, Micromelia, Micrognathia, Short neck, Narrow chest, Short phalanx of finger, B... |
ORPHA:56304 |
Leri-Weill Dyschondrosteosis |
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Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Marshall Syndrome |
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Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Abnormality of... |
ORPHA:560 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
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Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... |
ORPHA:457395 |
Dermatitis, Atopic |
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Allergic rhinitis, Asthma, Facial erythema, Pallor, Dry skin |
OMIM:603165 |
Autosomal Recessive Malignant Osteopetrosis |
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Delayed eruption of teeth, Bowing of the long bones, Apnea, Premature loss of primary teeth, Cran... |
ORPHA:667 |
Deafness, Progressive, With Stapes Fixation |
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Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
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Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Mucopolysaccharidosis, Type X |
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Spatulate ribs, Broad clavicles, Hyperlordosis, Genu valgum, Hip dysplasia, Broad ribs, Posterior... |
OMIM:619698 |
Craniofacial-Deafness-Hand Syndrome |
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Depressed nasal bridge, Hypoplasia of the maxilla, Sensorineural hearing impairment, Narrow naris... |
OMIM:122880 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
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Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... |
OMIM:271640 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
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Bowing of the long bones, Posteriorly rotated ears, Micrognathia, Wide nasal bridge, Respiratory ... |
OMIM:224410 |
Pfeiffer Syndrome |
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Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
3Mc Syndrome 2 |
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Prominence of the premaxilla, Torticollis, Prominent nasal bridge, Hypoplasia of the musculature,... |
OMIM:265050 |
Osteopetrosis, Autosomal Dominant 1 |
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Abnormal pelvic girdle bone morphology, Abnormality of the vertebral column, Mandibular pain, Thi... |
OMIM:607634 |
Cat-Eye Syndrome |
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Hip dysplasia, Abnormal rib morphology |
ORPHA:195 |
Cystic Fibrosis |
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Nasal polyposis, Meconium ileus, Reduced forced expiratory volume in one second, Reduced forced v... |
OMIM:219700 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
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Long toe, Flexion contracture of finger, Redundant neck skin, Anteverted nares, Depressed nasal b... |
ORPHA:254528 |
Schneckenbecken Dysplasia |
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Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
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Pallor, Anorexia |
ORPHA:79283 |
Acrorenal-Mandibular Syndrome |
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Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Missing ribs, Micro... |
OMIM:200980 |
Treacher-Collins Syndrome |
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Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Conductive hearing impairment... |
ORPHA:861 |
Sclerosteosis 1 |
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Mandibular prognathia, Cortically dense long tubular bones, Syndactyly, Depressed nasal bridge, F... |
OMIM:269500 |
1P36 Deletion Syndrome |
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Depressed nasal ridge, Conductive hearing impairment, Clinodactyly of the 5th finger, Abnormal re... |
ORPHA:1606 |
Cerebrofacioarticular Syndrome |
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Irregular dentition, Anal stenosis, Syndactyly, Tracheomalacia, Micrognathia, Hypoplasia of the m... |
ORPHA:314679 |
Benign Schwannoma |
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Intestinal polyposis, Nasal polyposis, Facial palsy, Hearing abnormality, Vertigo, Abnormal fibul... |
ORPHA:252164 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypoplasia, Lateral cl... |
OMIM:613091 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
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Micrognathia, Metaphyseal widening, Abnormal thorax morphology, Abnormal form of the vertebral bo... |
ORPHA:73230 |
Microphthalmia With Limb Anomalies |
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Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pa... |
ORPHA:1106 |
Gorlin-Chaudhry-Moss Syndrome |
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Abnormality of the dentition, Hypoplasia of the maxilla, Oligodontia, Conductive hearing impairme... |
ORPHA:2095 |
Codas Syndrome |
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Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental enamel m... |
ORPHA:1458 |
Raine Syndrome |
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Mandibular prognathia, Micrognathia, Protruding ear, Choanal stenosis, High palate, Microdontia, ... |
OMIM:259775 |
Hemifacial Hyperplasia |
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Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Orofaciodigital Syndrome Iii |
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Pectus excavatum, Bulbous nose, Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, ... |
OMIM:258850 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Hypoplasia of the maxilla, Protruding ear, Downturned corners of mouth, Short philtrum, Emphysema... |
ORPHA:500150 |
Osteogenesis Imperfecta, Type Xvii |
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Bowed humerus, Thin long bone diaphyses, Kyphoscoliosis, Hip dislocation, Platyspondyly, Vertebra... |
OMIM:616507 |
Craniolenticulosutural Dysplasia |
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Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Hypoplasia of the maxilla, Carious ... |
ORPHA:50814 |
Camptodactyly Syndrome, Guadalajara Type 3 |
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Abnormal pinna morphology, Sternocleidomastoid amyotrophy, Broad nasal tip, Thickened cortex of l... |
ORPHA:488434 |
Osteopathia Striata With Cranial Sclerosis |
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Dental crowding, Apnea, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High pala... |
OMIM:300373 |
Fibular Hemimelia |
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Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Short tibia, Ar... |
ORPHA:93323 |
Multicentric Carpotarsal Osteolysis Syndrome |
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Ankle swelling, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the maxilla, Wrist s... |
OMIM:166300 |
Hallermann-Streiff Syndrome |
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Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, H... |
OMIM:234100 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
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Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasi... |
ORPHA:85165 |
Tarp Syndrome |
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Posteriorly rotated ears, Anteverted nares, Rocker bottom foot, Micrognathia, Pectus excavatum, P... |
OMIM:311900 |
Crane-Heise Syndrome |
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Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ... |
ORPHA:1512 |
Elsahy-Waters Syndrome |
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Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, Cutaneous finger syndac... |
OMIM:211380 |
Emanuel Syndrome |
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Redundant neck skin, Dental crowding, Multiple joint contractures, Congenital diaphragmatic herni... |
ORPHA:96170 |
Glutamine Deficiency, Congenital |
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Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Apnea, Erythema, Flexion... |
OMIM:610015 |
Neuropathy, Congenital Hypomyelinating, 3 |
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