Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Abnormal antihelix morphology, Large earlobe, Conductive hearing impairment, Accessory oral frenu... |
ORPHA:79113 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Conductive hearing impairment, Narrow nasal bridge, Atresia of the external auditory canal, Abnor... |
ORPHA:3236 |
Braddock-Carey Syndrome 2 |
|
Wide mouth, Bulbous nose, Cleft palate, Retrognathia, Atresia of the external auditory canal, Pie... |
OMIM:619981 |
Femoral-Facial Syndrome |
|
Sprengel anomaly, Coxa vara, Rib fusion, Vertebral segmentation defect, Talipes equinovarus, Apla... |
ORPHA:1988 |
Branchiogenic-Deafness Syndrome |
|
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Branchial fistula, Mixe... |
OMIM:609166 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Conductive hearing impairment, Narrow mouth, Cleft palate, Microtia, Micrognathi... |
OMIM:239800 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphosis, Supernumerary vertebral ossification centers... |
OMIM:609813 |
Branchiootic Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Cleft palate, Lip pit, Micrognat... |
ORPHA:52429 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib ... |
ORPHA:3268 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... |
OMIM:609052 |
Hemifacial Microsomia With Radial Defects |
|
Conductive hearing impairment, Cleft palate, Microtia, Short mandibular rami, Oral cleft, Atresia... |
OMIM:141400 |
Johnson Neuroectodermal Syndrome |
|
Conductive hearing impairment, Bulbous nose, Protruding ear, Cleft palate, Microtia, Everted lowe... |
ORPHA:2316 |
Otofaciocervical Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Protruding ear, High palate, Depres... |
ORPHA:2792 |
Lambotte Syndrome |
|
Narrow mouth, Convex nasal ridge, Retrognathia, Atresia of the external auditory canal, Macrotia |
OMIM:245552 |
Kyphomelic Dysplasia |
|
Narrow chest, Undulate ribs, Micrognathia, Micromelia, Anterior rib cupping, Abnormal form of the... |
ORPHA:1801 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... |
ORPHA:2779 |
Acrootoocular Syndrome |
|
Sensorineural hearing impairment, Dental malocclusion, Conductive hearing impairment, Anodontia, ... |
ORPHA:2980 |
Bor Syndrome |
|
Abnormality of the middle ear ossicles, Cleft palate, Retrognathia, Stenosis of the external audi... |
ORPHA:107 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... |
ORPHA:2549 |
Johnson Neuroectodermal Syndrome |
|
Conductive hearing impairment, Protruding ear, Cleft palate, Microtia, Retrognathia, Carious teet... |
OMIM:147770 |
Nager Syndrome |
|
Wide mouth, Cleft palate, Microtia, Micrognathia, Abnormal nasal morphology, Low-set, posteriorly... |
ORPHA:245 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... |
OMIM:128980 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Conductive hearing impairment, Microtia, Bifid nose, Atresia of the external auditory canal, Bifi... |
ORPHA:2213 |
Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Intervertebral disk calcification, Osteoarthritis of the small joints of the hand, Costal cartila... |
OMIM:118610 |
Spondylometaphyseal Dysplasia, East African Type |
|
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... |
OMIM:611702 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
High palate, Dental malocclusion, Anodontia, Narrow palate, Supernumerary tooth, Micrognathia, De... |
OMIM:264475 |
Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Hemivertebrae, Unilateral brac... |
OMIM:173800 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... |
ORPHA:174 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Conductive hearing impairment, Malar flattening, Microtia, Overfolded helix, Micrognathia, Cleft ... |
OMIM:610536 |
Cooper-Jabs Syndrome |
|
Conductive hearing impairment, Abnormality of the middle ear, Congenital diaphragmatic hernia, Ma... |
ORPHA:1488 |
Acrocraniofacial Dysostosis |
|
Abnormal pinna morphology, Pectus excavatum, Cleft palate, Craniosynostosis, Short 1st metacarpal... |
ORPHA:949 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Chronic otitis media, Recurrent bronchitis, Chronic sinusitis, Emphysema, Skin ul... |
OMIM:604571 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:3216 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Scoliosis, Genu varum, Short lower limbs, Carious teeth, Hyperlordosis, Ab... |
ORPHA:2501 |
Metatropic Dysplasia |
|
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... |
OMIM:156530 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Ciliary Dyskinesia, Primary, 15 |
|
Bronchiectasis, Abnormal axonemal organization of respiratory motile cilia, Cough, Wheezing, Chro... |
OMIM:613808 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Otitis media, Ciliary dyskinesia, Immotile cilia, Bronchiectasis... |
OMIM:606763 |
Craniodiaphyseal Dysplasia |
|
Conductive hearing impairment, Craniofacial hyperostosis, Stenosis of the external auditory canal... |
ORPHA:1513 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... |
OMIM:607778 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Sclerotic v... |
ORPHA:2790 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Cleft upper lip, Conductive hearing impairment, Selective tooth agenesis, Hypodontia, Cleft palat... |
OMIM:106260 |
Diamond-Blackfan Anemia 10 |
|
Conductive hearing impairment, Congenital diaphragmatic hernia, Malar flattening, Microtia, Cleft... |
OMIM:613309 |
Becker Nevus Syndrome |
|
Rib fusion, Kyphosis, Pectus excavatum, Micromelia, Scoliosis, Abnormality of tibia morphology, P... |
ORPHA:64755 |
Smith-Magenis Syndrome |
|
Velopharyngeal insufficiency, Malar flattening, Everted upper lip vermilion, Abnormality of the d... |
OMIM:182290 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Dental malocclusion, Conductive hearing impairment, Joint contracture of the hand, Malar flatteni... |
OMIM:608257 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Dental malocclusion, Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Nar... |
OMIM:608940 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
High palate, Conductive hearing impairment, Narrow mouth, Malar flattening, Flexion contracture, ... |
OMIM:602471 |
Van Maldergem Syndrome 1 |
|
Sensorineural hearing impairment, Dental malocclusion, Wide anterior fontanel, Conductive hearing... |
OMIM:601390 |
Mosaic Trisomy 14 |
|
Narrow chest, High palate, Wide mouth, Ectopic anus, Cleft palate, Microtia, Micrognathia, Campto... |
ORPHA:1703 |
Ciliary Dyskinesia, Primary, 5 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... |
OMIM:608647 |
Ciliary Dyskinesia, Primary, 22 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... |
OMIM:615444 |
Van Maldergem Syndrome 2 |
|
Sensorineural hearing impairment, Dental malocclusion, Wide anterior fontanel, Conductive hearing... |
OMIM:615546 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... |
OMIM:108760 |
Crouzon Syndrome |
|
Conductive hearing impairment, Atresia of the external auditory canal, Hypoplasia of the maxilla,... |
OMIM:123500 |
Ciliary Dyskinesia, Primary, 30 |
|
Asthma, Respiratory insufficiency due to defective ciliary clearance, Respiratory insufficiency, ... |
OMIM:616037 |
Branchiogenic Deafness Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:50815 |
Verloove Vanhorick-Brubakk Syndrome |
|
Cleft palate, Microtia, Micrognathia, Atresia of the external auditory canal, Non-midline cleft l... |
ORPHA:3429 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Pectus excavatum, Metaphyseal spurs, Dysplastic iliac wing, Narrow greater sc... |
OMIM:608728 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... |
OMIM:613686 |
Lateral Meningocele Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... |
ORPHA:2789 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... |
OMIM:277300 |
Ciliary Dyskinesia, Primary, 19 |
|
Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis, Ciliary dyskin... |
OMIM:614935 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... |
OMIM:223800 |
Primary Ciliary Dyskinesia |
|
Conductive hearing impairment, Airway obstruction, Intestinal malrotation, Chronic otitis media, ... |
ORPHA:244 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Facial diplegia, Diaphyseal sclerosis, Depressed nasal bridge, Wide nasal bridge,... |
OMIM:122860 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Delayed epiphyseal ossification, Proximal humeral metaphyseal irregularity, Coxa vara, Increased ... |
OMIM:183849 |
Cleft Velum |
|
Conductive hearing impairment, Velopharyngeal insufficiency, Hypoplasia of the maxilla, Recurrent... |
ORPHA:99772 |
Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Recurren... |
OMIM:618695 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Abnormal joint morphology, Osteoarthritis, Platyspondyly, Micromelia, Synostosis of ca... |
ORPHA:93351 |
20P12.3 Microdeletion Syndrome |
|
Narrow mouth, Malar flattening, Microtia, Depressed nasal bridge, Broad hallux phalanx, Long phil... |
ORPHA:261295 |
Grant Syndrome |
|
Sprengel anomaly, Narrow chest, Joint dislocation, Abnormality of the glenoid fossa, Micrognathia... |
ORPHA:2097 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... |
OMIM:609616 |
Immunodeficiency 13 |
|
Recurrent upper respiratory tract infections, Recurrent sinusitis, Recurrent pneumonia, Recurrent... |
OMIM:615518 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Vertebral segmentation defect, Abnormal hip bone morphology, Retrognathia, Camptodactyly of finge... |
ORPHA:2631 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Bell-shaped thorax, Short ribs |
OMIM:187750 |
Neurofaciodigitorenal Syndrome |
|
Hypoplasia of the premaxilla, External ear malformation, Atresia of the external auditory canal, ... |
ORPHA:2673 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Kyphoscoliosi... |
ORPHA:93316 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Atresia of the external auditory canal, Conductive hearing impairment, Chronic otitis media, Abno... |
OMIM:221320 |
Barber-Say Syndrome |
|
Wide mouth, Bulbous nose, Abnormal pinna morphology, Delayed eruption of teeth, Atresia of the ex... |
ORPHA:1231 |
Mandibulofacial Dysostosis With Alopecia |
|
Low-set ears, Conductive hearing impairment, Protruding ear, Cleft palate, Microtia, Stenosis of ... |
OMIM:616367 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Wide mouth, Pectus excavatum, Triangular mouth, Hypoplasia of the radius, Depressed nasal bridge,... |
OMIM:268310 |
Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
Aural Atresia, Congenital |
|
Atresia of the external auditory canal, Conductive hearing impairment, Hyposmia |
OMIM:607842 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Thoracomelic Dysplasia |
|
Narrow chest, Short ribs, Short neck, Bell-shaped thorax, Abnormality of fibula morphology, Limb ... |
ORPHA:1803 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Cleft palate, Pectus carinatum, Radioulnar synostosis, Short nose, Enamel agenesis, Clinodactyly ... |
OMIM:614701 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Pectus excavatum, Talipes equinovarus, Flat capital femoral ep... |
OMIM:601560 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... |
OMIM:617405 |
Chromosome 18Q Deletion Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Cleft upper lip, U-Shaped upper ... |
OMIM:601808 |
Multiple Synostoses Syndrome 1 |
|
Pectus excavatum, Hypoplastic nasal septum, Short sternum, Clinodactyly of the 4th toe, Short phi... |
OMIM:186500 |
Diastrophic Dysplasia |
|
Kyphosis, Abnormal clavicle morphology, Joint dislocation, Hypoplastic cervical vertebrae, Microg... |
ORPHA:628 |
X-Linked Intellectual Disability, Porteous Type |
|
Bulbous nose, Cupped ear, Short philtrum, Hypoplasia of the maxilla, Macrotia, Mandibular prognathia |
ORPHA:93945 |
Metatropic Dysplasia |
|
Narrow chest, Kyphosis, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Camptodactyly of f... |
ORPHA:2635 |
Ciliary Dyskinesia, Primary, 1 |
|
Conductive hearing impairment, Nasal polyposis, Chronic otitis media, Chronic rhinitis, Recurrent... |
OMIM:244400 |
Thoracomelic Dysplasia |
|
Short ribs, Bell-shaped thorax |
OMIM:273740 |
Craniofacial-Deafness-Hand Syndrome |
|
Sensorineural hearing impairment, Narrow mouth, Aplasia/Hypoplasia involving the nose, Depressed ... |
ORPHA:1529 |
Frontonasal Dysplasia 1 |
|
Conductive hearing impairment, Median cleft palate, Joint contracture of the hand, Broad nasal ti... |
OMIM:136760 |
Ciliary Dyskinesia With Excessively Long Cilia |
|
Sinusitis, Airway obstruction, Chronic rhinitis, Abnormal respiratory motile cilium morphology, R... |
OMIM:242680 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Rib fusion, Kyphosis, Camptodactyly of finger, Short neck, Scolios... |
ORPHA:2311 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... |
OMIM:156500 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Down-sloping shoulders, Short neck, Ulnar deviation of finger, Rocker bottom foot, Pterygium, Rib... |
OMIM:265000 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Retrognathia, Finger clinodactyly, Prominent nose, Patellar subluxation, Abnormal number of incis... |
ORPHA:2958 |
Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Pectus carinatum... |
OMIM:122600 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, High palate, Bulbous nose, Malar flattening, Depressed nasal bridge, Wide nasal... |
ORPHA:2180 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platy... |
OMIM:184252 |
Jeune Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Cone-shaped epiphysis, M... |
ORPHA:474 |
Hypochondroplasia |
|
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Osteoarthritis, Micromelia, Br... |
ORPHA:429 |
Autosomal Recessive Robinow Syndrome |
|
Wide mouth, Pectus excavatum, Depressed nasal bridge, Abnormality of the dentition, Short philtru... |
ORPHA:1507 |
Craniofacial-Deafness-Hand Syndrome |
|
Sensorineural hearing impairment, Short nose, Hypoplasia of the maxilla, Malar flattening |
OMIM:122880 |
Aase-Smith Syndrome |
|
Talipes equinovarus, Slender finger, Abnormal hip bone morphology, Camptodactyly of finger, Scoli... |
ORPHA:916 |
Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... |
ORPHA:1836 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Aplasia/Hypoplasia of fingers, Clin... |
ORPHA:3082 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Short distal phalanx of finger, Conductive hearing impairment, Stapes ankylosis, Congenital stape... |
OMIM:184460 |
Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Kyphosis, Mesomelic/rhizomelic limb shortening, Abnormal form of the vertebral bodi... |
ORPHA:1354 |
Lujan-Fryns Syndrome |
|
High palate, Protruding ear, Pectus excavatum, Arachnodactyly, Micrognathia, Abnormality of the d... |
ORPHA:776 |
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Bulbous nose, Protruding ear, Widely-spaced incisors, Hypoplasia of the maxilla, Thin upper lip v... |
OMIM:618737 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Micrognathia, Short neck, Platyspondyly, Abnormal rib... |
ORPHA:93267 |
Thanatophoric Dysplasia, Type Ii |
|
Narrow chest, Metaphyseal irregularity, Small abnormally formed scapulae, Wide-cupped costochondr... |
OMIM:187601 |
Lipoid Proteinosis |
|
High palate, Abnormality of the gingiva, Abnormal oral mucosa morphology, Tongue nodules, Dysphag... |
ORPHA:530 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... |
OMIM:619598 |
Smith-Mccort Dysplasia 1 |
|
Metaphyseal irregularity, Multicentric femoral head ossification, Kyphosis, Prominent sternum, Be... |
OMIM:607326 |
Lateral Meningocele Syndrome |
|
High palate, Conductive hearing impairment, Abnormality of the middle ear ossicles, Pectus excava... |
OMIM:130720 |
Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Micrognathia, Abn... |
ORPHA:3104 |
Dyggve-Melchior-Clausen Disease |
|
Broad carpal bones, Short neck, Abnormality of the ankles, Abnormal femoral head morphology, Hypo... |
ORPHA:239 |
Thoracolaryngopelvic Dysplasia |
|
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Metaphyseal widenin... |
OMIM:187760 |
Cleft Lip/Palate |
|
Dental malocclusion, Conductive hearing impairment, Velopharyngeal insufficiency, Abnormal number... |
ORPHA:199306 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Chronic rhinitis, Ciliary dyskinesia, Immotile cilia, Abnormal respiratory system phys... |
OMIM:242670 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Protruding ear, Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:618302 |
Bosma Arhinia Microphthalmia Syndrome |
|
High palate, Dental malocclusion, Abnormal pinna morphology, Conductive hearing impairment, Paran... |
OMIM:603457 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Abnormal form of the vertebral bodies, Abnormality of tibia morp... |
ORPHA:1802 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
Asthma, Nasal Polyps, And Aspirin Intolerance |
|
Asthma, Aspirin-induced asthma, Nasal polyposis, Bronchoconstriction |
OMIM:208550 |
Auriculocondylar Syndrome 3 |
|
Retrognathia, Micrognathia, Stenosis of the external auditory canal, Glossoptosis, Bilateral cond... |
OMIM:615706 |
Axial Spondylometaphyseal Dysplasia |
|
Platyspondyly, Upper limb undergrowth, Flared, irregular rib ends, Thoracic hypoplasia, Narrow gr... |
ORPHA:168549 |
Kyphomelic Dysplasia |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Lateral clavicle hook, Short femur, Undulate r... |
OMIM:211350 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck |
OMIM:608681 |
Renpenning Syndrome |
|
Sensorineural hearing impairment, Sprengel anomaly, Anal atresia, Pectus excavatum, Narrow mouth,... |
ORPHA:3242 |
Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Pfeiffer Syndrome Type 2 |
|
High palate, Anal atresia, Malar flattening, Cleft palate, Intestinal malrotation, Depressed nasa... |
ORPHA:93259 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Dislocated radial head, Beaking of vertebral bodies, Kyphoscoliosis, Talipes equinovarus, Microgn... |
ORPHA:93359 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Atresia of the external auditory canal, Bilateral conductive hearing impairment, Oligodontia of p... |
ORPHA:2010 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord... |
OMIM:184253 |
Mohr Syndrome |
|
High palate, Pectus excavatum, Cleft palate, Broad nasal tip, Depressed nasal bridge, Lobulated t... |
OMIM:252100 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis, Fibular bowing, Lateral femoral bowing, Delayed eruption ... |
OMIM:112350 |
Isotretinoin-Like Syndrome |
|
Thin anteverted nares, Cleft palate, Microtia, Micrognathia, Anotia, Aplasia/Hypoplasia of the in... |
ORPHA:2306 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal hip bone morphology, Micrognathia, Short neck, Abnormal form of the vertebral bodies, Sl... |
ORPHA:1486 |
Anauxetic Dysplasia 3 |
|
Narrow chest, Beaking of vertebral bodies, Wide anterior fontanel, Metaphyseal cupping, Pectus ex... |
OMIM:618853 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Abnormal form of the vertebral b... |
ORPHA:2831 |
Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Tooth agenesis, Aplasia/Hypoplasia of the distal phalanges of the... |
ORPHA:1248 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... |
OMIM:184250 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Narrow chest, Metaphyseal cupping, Severe limb shortening, Thin ribs, Short ribs, Disc-like verte... |
OMIM:151210 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
High palate, Abnormality of the tongue, Pectus excavatum, Cleft palate, Aplasia/Hypoplasia of the... |
ORPHA:2990 |
Pallister-Hall Syndrome |
|
Cleft palate, Depressed nasal bridge, Y-shaped metacarpals, Short nose, Anteriorly placed anus, R... |
OMIM:146510 |
Ciliary Dyskinesia, Primary, 35 |
|
Cough, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Nasal polyposis |
OMIM:617092 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Microretrognathia, Abnormality of the dentition, Chronic otitis med... |
ORPHA:276422 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... |
OMIM:271650 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Abnormal hip bone morphology, Micrognat... |
ORPHA:2522 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal antihelix morphology, Convex nasal ridge, Malar flattening, Microtia, Cleft palate, Micr... |
ORPHA:2145 |
Aarskog-Scott Syndrome |
|
Pectus excavatum, Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Hypoplas... |
ORPHA:915 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Lumbar hyperlordosis, Talipes equinovarus, Coronal cleft vertebrae, Bifid hume... |
OMIM:256050 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Cleft palate, Microtia, Low-set, posteriorly rotated ears, Atresia of the external auditory canal... |
ORPHA:1770 |
Spondylometaphyseal Dysplasia, Axial |
|
Narrow chest, Coxa vara, Narrow greater sciatic notch, Platyspondyly, Anterior rib cupping, Short... |
OMIM:602271 |
Mycophenolate Mofetil Embryopathy |
|
Congenital diaphragmatic hernia, Microtia, Micrognathia, Tracheoesophageal fistula, Anotia, Bifid... |
ORPHA:268249 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the tongue, Overfolde... |
ORPHA:2759 |
Auriculocondylar Syndrome 2 |
|
Cleft at the superior portion of the pinna, Dental malocclusion, Abnormal pinna morphology, Narro... |
OMIM:614669 |
Acrofacial Dysostosis 1, Nager Type |
|
Cleft upper lip, Low-set ears, Conductive hearing impairment, Wide mouth, Velopharyngeal insuffic... |
OMIM:154400 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, External ear malformation, Hypoplas... |
ORPHA:3232 |
Robinow Syndrome |
|
Triangular mouth, Broad alveolar ridges, Broad nasal tip, Depressed nasal bridge, Short nose, Bif... |
ORPHA:97360 |
16P13.11 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Wide mouth, Cleft upper lip, Cleft palate, Depressed nasal brid... |
ORPHA:261236 |
Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Narrow chest, Cone-shaped epiphyses of the phalanges of the hand,... |
ORPHA:2484 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, High palate, Narrow mouth, Micro... |
ORPHA:1307 |
Craniosynostosis And Dental Anomalies |
|
High palate, Depressed nasal bridge, Delayed eruption of teeth, Broad hallux, Sagittal craniosyno... |
OMIM:614188 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Short nose, Hypoplasia of the maxi... |
OMIM:213980 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... |
OMIM:618395 |
Monosomy 9P |
|
Abnormal antihelix morphology, High palate, Narrow mouth, Congenital diaphragmatic hernia, Malar ... |
ORPHA:261112 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... |
OMIM:300106 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Cleft palate, Micrognathia, Prominent nose, Macrotia, Supernumerary ribs, Vertebral fusion |
OMIM:221950 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Atresia of the external auditory canal, Conductive hearing impairment, Pyloric stenosis |
OMIM:133705 |
Fibrochondrogenesis 2 |
|
Metaphyseal cupping, Short ribs, Micrognathia, Metaphyseal widening, Hypoplastic ilia, Hypoplasti... |
OMIM:614524 |
Coxopodopatellar Syndrome |
|
Aplasia/Hypoplasia of the patella, Abnormal epiphysis morphology, Abnormal pelvic girdle bone mor... |
ORPHA:1509 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Short clavicles, Short ribs, Short humerus, Short neck, Short femoral neck, Scoliosis, Biconcave ... |
OMIM:610319 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Incomplete cleft of the upper lip, Abnormal pinna morphology, Pectus excavatum, Depressed nasal r... |
ORPHA:77300 |
Treacher Collins Syndrome 1 |
|
Conductive hearing impairment, Wide mouth, Narrow mouth, Malar flattening, Microtia, Cleft palate... |
OMIM:154500 |
Cleidocranial Dysplasia |
|
Cleft palate, Depressed nasal bridge, Abnormality of the dentition, Down-sloping shoulders, Delay... |
ORPHA:1452 |
Ossicular Malformations, Familial |
|
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment |
OMIM:165680 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Episodic tachypnea, Retrognathia, Micrognathia, Apneic episodes in infancy, Short nose, Thick nas... |
ORPHA:163961 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Pectus excavatum, Abnormal rib cage morphology, Hemivertebrae, Posterior rib fusion, Preaxial han... |
OMIM:608406 |
Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
Van Den Ende-Gupta Syndrome |
|
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Overfolded helix, Depressed nasal ... |
OMIM:600920 |
Pai Syndrome |
|
Cleft palate, Depressed nasal bridge, Bifid uvula, Abnormal oral frenulum morphology, Median clef... |
ORPHA:1993 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Vertebral wedgi... |
ORPHA:1159 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Hemivertebrae, Radioulnar synostosis, Sprengel anomaly, Short fifth meta... |
OMIM:134780 |
Kapur-Toriello Syndrome |
|
Bulbous nose, Intestinal malrotation, Oral cleft, Atresia of the external auditory canal, Low-set... |
ORPHA:2328 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
High palate, Protruding ear, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, ... |
ORPHA:85279 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... |
ORPHA:363417 |
Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Kyphosis, Joint dislocation, Short neck, Platyspondyly, Scoliosis, Grayish... |
ORPHA:582 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Intestinal malrotation, Atresia of the external auditory canal, Arthrogryposis multiplex congenit... |
OMIM:243180 |
8Q22.1 Microdeletion Syndrome |
|
Abnormal antihelix morphology, Abnormal pinna morphology, Finger syndactyly, Depressed nasal ridg... |
ORPHA:178303 |
Fibrochondrogenesis 1 |
|
Abnormal pinna morphology, Cleft palate, Depressed nasal bridge, Short nose, Posterior rib cuppin... |
OMIM:228520 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Pectus excavatum, Dentinogenesis imperfecta, Platyspondyly, Scoliosis, Wormian bones, P... |
OMIM:259440 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormal palate morphology, Narrow mouth, Depressed nasal ridge, Malar flattening, Prominence of ... |
ORPHA:2412 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Short neck, Posterior rib fusion, Scoliosis, Spina bifida occulta,... |
ORPHA:1797 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Conductive hearing impairment, Convex nasal ridge, Malar flattening, Respiratory insufficiency, B... |
ORPHA:93262 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
High palate, Facial diplegia, 2-3 toe syndactyly, Flexion contracture, Tapered finger, Long finge... |
OMIM:218000 |
Schneckenbecken Dysplasia |
|
Narrow chest, Metaphyseal irregularity, Advanced ossification of carpal bones, Lateral clavicle h... |
OMIM:269250 |
Osteolysis Syndrome, Recessive |
|
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... |
OMIM:259610 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Narrow mouth, Malar flattening, Short long bone, Micrognathia, Neonatal death, Bowing of the long... |
OMIM:224410 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Delayed eruption of teeth, Short neck, Hypoplasia of the ... |
ORPHA:2616 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Narrow chest, Short femur, Micrognathia, Metaphyseal widening, Femoral bowing, Brachydactyly, Mic... |
ORPHA:440354 |
Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Hypoplastic sacrum, Barrel... |
OMIM:304950 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sensorineural hearing impairment, Rib fusion, Bulbous nose, Clinodactyly of the 5th finger, Taper... |
ORPHA:544488 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Pectus excavatum, Weakness of facial musculature, Increased variabil... |
ORPHA:536516 |
Keipert Syndrome |
|
Sensorineural hearing impairment, Short distal phalanx of finger, Clinodactyly of the 5th finger,... |
ORPHA:2662 |
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy |
|
Conductive hearing impairment, External ear malformation, Facial paralysis, Abnormality of the st... |
OMIM:124490 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Dentinogenesis imperfecta, Asymmetry of the thorax, Thin ribs, Epiphyseal streaking, Clinodactyly... |
OMIM:604922 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Premature osteoarthritis... |
ORPHA:93314 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Kyphosis, Abnormal morphology of ulna, Abnormal h... |
ORPHA:3344 |
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome |
|
Atresia of the external auditory canal, Hearing impairment |
ORPHA:3023 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Micromelia, ... |
OMIM:250215 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Rib fusion, Craniosynostosis, Micrognathia, Scoliosis, Abnormal vertebral morphology, Hand polyda... |
ORPHA:261197 |
Split-Hand/Foot Malformation 3 |
|
High palate, Abnormal pinna morphology, Narrow mouth, Microretrognathia, Cleft palate, Camptodact... |
OMIM:246560 |
Cerebrofaciothoracic Dysplasia |
|
Sprengel anomaly, Rib fusion, Narrow chest, Bifid ribs, Wide mouth, Cleft upper lip, Cleft palate... |
ORPHA:1394 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
Schinzel-Giedion Syndrome |
|
High palate, Wide mouth, Respiratory distress, Abnormal clavicle morphology, Abnormal helix morph... |
ORPHA:798 |
Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Narrow chest, Metaphyseal cupping, Platyspondyly, Micromelia, Hyp... |
ORPHA:85166 |
Fraser Syndrome 1 |
|
Abnormal pinna morphology, Cleft palate, Depressed nasal bridge, Cleft ala nasi, Cleft upper lip,... |
OMIM:219000 |
Kbg Syndrome |
|
Cutaneous syndactyly, Macrodontia, Tented upper lip vermilion, Widely-spaced maxillary central in... |
OMIM:148050 |
Ear-Patella-Short Stature Syndrome |
|
Narrow mouth, High, narrow palate, Cleft palate, Retrognathia, Micrognathia, Camptodactyly of fin... |
ORPHA:2554 |
Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beaking of lumbar ... |
OMIM:253000 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Scoliosis, Abnormal form of the vertebral bodies, ... |
ORPHA:2370 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Asthma, Malabsorption, Sinusitis, Respiratory insufficiency, Myositis, Arthritis, Intestinal obst... |
ORPHA:183 |
Ablepharon Macrostomia Syndrome |
|
Wide mouth, Microtia, Thin vermilion border, Depressed nasal bridge, Camptodactyly of finger, Mic... |
ORPHA:920 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Rhizomelia, Ovoid vertebral bodies, Sho... |
OMIM:618019 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Low-set, posteriorly rotated ears, Del... |
ORPHA:2972 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Wide mouth, Thin ribs, Depressed nasal ridge, Micrognathia, Short philtrum, Metaphyseal cupping o... |
ORPHA:163966 |
Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Kyphosis, Prominent sternum, Constricted iliac... |
OMIM:253010 |
Coffin-Lowry Syndrome |
|
High palate, Wide mouth, Pectus excavatum, Depressed nasal bridge, Broad finger, Delayed eruption... |
ORPHA:192 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Short clavicles, Absent thumb, Bilateral talipes equinovarus, Retrognathia, Hypoplastic scapulae,... |
OMIM:618022 |
Odontochondrodysplasia |
|
Narrow chest, Dentinogenesis imperfecta, Retrognathia, Cone-shaped epiphysis, Platyspondyly, Micr... |
ORPHA:166272 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
High palate, Bifid uvula, Nasal polyposis, Median cleft lip |
OMIM:155145 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Apnea, Abnormal rib morphology, Low-set ears, Posteriorly rotated ears, Meckel diverticulum |
OMIM:300864 |
Cousin Syndrome |
|
Rhizomelia, Absent proximal finger flexion creases, Clinodactyly of the 5th finger, Talipes equin... |
OMIM:260660 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Brachydactyly, Abnormality of the ankles, Scoliosis, Cuboidal metacarpal, Elbow dislocation, Abno... |
ORPHA:968 |
Cerebrocostomandibular Syndrome |
|
Conductive hearing impairment, Cleft palate, Glossoptosis, Micrognathia, Short hard palate, Atres... |
ORPHA:1393 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormal rib morphology, Micrognathia, Hypoplastic distal segments of scapulae, Pectus excavatum |
OMIM:602196 |
Diamond-Blackfan Anemia 7 |
|
Cleft palate, Atresia of the external auditory canal, Small hypothenar eminence, Choanal atresia,... |
OMIM:612562 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Obtuse angle of mandible, Wide anterior fontanel, Micrognathia, Broad femoral neck, Wormian bones... |
ORPHA:85184 |
Heart-Hand Syndrome Type 2 |
|
Abnormal clavicle morphology, Abnormal morphology of ulna, Asymmetry of the thorax, Abnormality o... |
ORPHA:1350 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Distal symphalangis... |
OMIM:210720 |
Warburg-Cinotti Syndrome |
|
High palate, Conductive hearing impairment, Gingival overgrowth, Flexion contracture of finger, A... |
OMIM:618175 |
Three M Syndrome 2 |
|
High palate, Dental malocclusion, Protruding ear, Prominent nasal tip, Malar flattening, Thin rib... |
OMIM:612921 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Wide anterior fontanel, Tibial bowing, Dentinogenesis imperfecta, Thin ribs, Micrognath... |
OMIM:259420 |
Baller-Gerold Syndrome |
|
High palate, Cleft palate, Hypoplasia of the radius, Hypoplasia of the ulna, Sagittal craniosynos... |
OMIM:218600 |
Cog1-Cdg |
|
Posterior rib gap, Rib fusion, Vertebral segmentation defect, Kyphoscoliosis, Talipes equinovarus... |
ORPHA:263508 |
Stickler Syndrome Type 1 |
|
Sensorineural hearing impairment, Cleft palate, Osteoarthritis, Long philtrum, Abnormality of ver... |
ORPHA:90653 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Atresia of the external auditory canal, Wide anterior fontanel |
OMIM:601356 |
Coxoauricular Syndrome |
|
Atresia of the external auditory canal, Hearing impairment, Microtia |
ORPHA:1508 |
14Q22Q23 Microdeletion Syndrome |
|
Malar flattening, Micrognathia, Cupped ear, Atresia of the external auditory canal, Downturned co... |
ORPHA:264200 |
Congenital Disorder Of Glycosylation, Type Iig |
|
High palate, Cleft palate, Microtia, Small hand, Micrognathia, Left ventricular hypertrophy, Low-... |
OMIM:611209 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Premature loss of teeth, Metaphyseal dysplasia, Convex nasal ridge, Thin vermilion border, Short ... |
OMIM:156510 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality of fibula ... |
ORPHA:3035 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Narrow chest, High palate, Pectus excavatum, Pectus carinatum, Hypoplasia of the maxilla, Mandibu... |
OMIM:300676 |
Kagami-Ogata Syndrome |
|
Diastasis recti, Thin ribs, Microtia, Retrognathia, Micrognathia, Depressed nasal bridge, Long cl... |
OMIM:608149 |
Craniometadiaphyseal Dysplasia |
|
Wide anterior fontanel, Broad long bones, Flared metaphysis, Scoliosis, Genu varum, Wormian bones... |
OMIM:269300 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Rhizomelia, Multinucleated giant ch... |
OMIM:108720 |
Femur-Fibula-Ulna Complex |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Abnormal... |
ORPHA:2019 |
Atelosteogenesis Type Iii |
|
Abnormality of the humerus, Patellar dislocation, Thoracic hypoplasia, Elbow dislocation, Hand cl... |
ORPHA:56305 |
Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Butterfly vertebrae, Prominence of the premaxilla, Small hand, Scoliosis,... |
ORPHA:50 |
Crouzon Syndrome |
|
Conductive hearing impairment, Narrow palate, Convex nasal ridge, Respiratory insufficiency, Mult... |
ORPHA:207 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Atresia of the external auditory canal |
OMIM:209770 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Abnormal epiphysis morphology, Brachydactyly, Abnormal rib morphology |
ORPHA:2643 |
Juberg-Hayward Syndrome |
|
Abnormality of finger, Hypoplasia of the radius, Scoliosis, Radioulnar synostosis, Hammertoe, Abn... |
ORPHA:2319 |
Premature Aging Syndrome, Penttinen Type |
|
Sensorineural hearing impairment, Thin vermilion border, Micrognathia, Delayed cranial suture clo... |
OMIM:601812 |
Trisomy 8P |
|
Multiple joint contractures, Cleft palate, Short fourth metatarsal, Clinodactyly of the 4th toe, ... |
ORPHA:264450 |
Cole-Carpenter Syndrome |
|
Kyphosis, Micrognathia, Scoliosis, Delayed eruption of teeth, Wormian bones, Abnormal form of the... |
ORPHA:2050 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Coxa vara, Platyspondyly, Micromelia, Short palm, Flared, irregular rib ends |
ORPHA:168555 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Macrodontia of permanent maxillary central incisor, Long nose, Delayed eruption of teeth, Hypopla... |
OMIM:257850 |
Meier-Gorlin Syndrome 1 |
|
High palate, Narrow mouth, Joint contracture of the hand, Cleft palate, Microtia, Flexion contrac... |
OMIM:224690 |
Fibrochondrogenesis |
|
Narrow chest, Wide anterior fontanel, Narrow mouth, Cleft palate, Short ribs, Depressed nasal bri... |
ORPHA:2021 |
Acrodysostosis |
|
Depressed nasal ridge, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped epiphysis, D... |
ORPHA:950 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Anal atresia, Hypoplasia of the maxilla, Macrotia |
ORPHA:93950 |
Diamond-Blackfan Anemia 11 |
|
Stenosis of the external auditory canal, Atresia of the external auditory canal, Cleft palate |
OMIM:614900 |
Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Short femur, Hypoplastic ilia, Congenital hip dislocation, Brachydactyl... |
ORPHA:93333 |
Pycnodysostosis |
|
High palate, Abnormal clavicle morphology, Abnormality of the dentition, Carious teeth, Hypoplasi... |
ORPHA:763 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Abnormal pinna morphology, Microretrognathia, Long philtrum, Hypoplasia of the maxilla, Thick ver... |
ORPHA:228396 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
High palate, Abnormally folded helix, Pectus excavatum, Flexion contracture, Arachnodactyly, Micr... |
OMIM:309520 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Metaphyseal irregularity, Coxa vara, Metaphyseal cupping, Talipes equinovarus, Thoracic scoliosis... |
OMIM:616716 |
Thanatophoric Dysplasia, Type I |
|
Narrow chest, Metaphyseal irregularity, Small abnormally formed scapulae, Wide-cupped costochondr... |
OMIM:187600 |
Acro-Renal-Mandibular Syndrome |
|
Sprengel anomaly, Kyphosis, Abnormal clavicle morphology, Butterfly vertebrae, Thin ribs, Split f... |
ORPHA:958 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Coxa vara, Prominent sternum, Flared iliac wing, Thin ribs, Metaphyseal widening, Short neck, Bra... |
OMIM:300232 |
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
|
Hypoplasia of the maxilla, Prominent nasal bridge |
OMIM:608432 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Everted lower lip vermilion, Broad nasal tip, Long philtrum, Deep p... |
OMIM:137550 |
Subaortic Stenosis--Short Stature Syndrome |
|
Short palm, Narrow mouth, Pectus excavatum, Short toe, Malar flattening, Small hand, Barrel-shape... |
OMIM:271960 |
Dysosteosclerosis |
|
Short sternum, Platyspondyly, Delayed eruption of teeth, Broad ribs, Sclerotic scapulae, Delayed ... |
OMIM:224300 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
High palate, Bulbous nose, Overfolded helix, Limb hypertonia, Pectus carinatum, Thoracic kyphosco... |
ORPHA:481152 |
Achondrogenesis Type 1B |
|
Narrow chest, Talipes equinovarus, Micrognathia, Short neck, Micromelia, Abnormal rib morphology,... |
ORPHA:93298 |
Saethre-Chotzen Syndrome |
|
Abnormal antihelix morphology, Cleft palate, Craniosynostosis, Proximal radio-ulnar synostosis, D... |
ORPHA:794 |
Pde4D Haploinsufficiency Syndrome |
|
Broad phalanx, Depressed nasal bridge, Short philtrum, Cone-shaped epiphysis, Upper limb undergro... |
ORPHA:439822 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
High palate, Pectus excavatum, Furrowed tongue, Hypoplasia of the maxilla, Distal lower limb amyo... |
OMIM:300534 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Lumbar hyperlordosis, Narro... |
OMIM:602557 |
Antley-Bixler Syndrome |
|
Narrow chest, Narrow mouth, Elbow ankylosis, Cleft palate, Craniosynostosis, Arachnodactyly, Femo... |
ORPHA:83 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal rib morphology |
ORPHA:1506 |
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Broad phalanx, Flat glenoid fossa, Genu valgum, Irregular iliac crest, Short long bone, Metaphyse... |
OMIM:250420 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Short humerus, Epiphyseal stippling, Short femur |
OMIM:600121 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Lateral clavicle hook, Mesomelic arm ... |
OMIM:171480 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Adducted thumb... |
ORPHA:3320 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Abnormally ossified vertebrae, Short neck, Platyspondyly, Flared femoral metaphy... |
ORPHA:1427 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Aplasia/Hypoplasia of the ulna, Sprengel anomaly, Microretrognathia, Talipes equinovarus, Hand ol... |
ORPHA:1788 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Sensorineural hearing impairment, Slender long bones with narrow diaphyses, Abnormal rib cage mor... |
OMIM:608154 |
Martsolf Syndrome 1 |
|
High palate, Pectus excavatum, Finger joint hypermobility, Depressed nasal bridge, Broad nasal ti... |
OMIM:212720 |
Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... |
ORPHA:90646 |
Fraser Syndrome |
|
High palate, Dental malocclusion, Conductive hearing impairment, Anal atresia, Abnormality of the... |
ORPHA:2052 |
Benign Schwannoma |
|
Vestibular schwannoma, Abnormal esophagus morphology, Hearing abnormality, Abnormality of fibula ... |
ORPHA:252164 |
Familial Osteodysplasia, Anderson Type |
|
Large earlobe, Bulbous nose, Clinodactyly of the 5th finger, Tooth malposition, Malar flattening,... |
ORPHA:2769 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Long hallux, Eruption failure, Persistence of primary teeth, Del... |
OMIM:600002 |
Holt-Oram Syndrome |
|
Sprengel anomaly, Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Absent thumb, Down-sl... |
ORPHA:392 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Lateral clavicle hook, Postaxial polydactyly, Brachydactyly, Bell-shaped thorax, Ho... |
OMIM:615633 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Thin ... |
OMIM:300863 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
High palate, Abnormal pinna morphology, Pectus excavatum, Craniosynostosis, Pectus carinatum, Gen... |
OMIM:182212 |
Wolf-Hirschhorn Syndrome |
|
Cleft palate, Short philtrum, Abnormal lip morphology, Cleft upper lip, Rib fusion, Microtia, Mic... |
ORPHA:280 |
Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... |
ORPHA:2345 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal pinna morphology, Protruding ear, Abnormal muscle fiber morphology, Clinodactyly of the ... |
ORPHA:3068 |
Osteogenesis Imperfecta, Type Xvi |
|
Narrow chest, Microretrognathia, Multiple rib fractures, Platyspondyly, Angulated humerus, Wormia... |
OMIM:616229 |
Microcephaly-Capillary Malformation Syndrome |
|
Short distal phalanx of finger, Cleft palate, Right ventricular hypertrophy, Brachydactyly, Heari... |
OMIM:614261 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Flexion contracture, Microtia, Neonatal death, Congenital pyloric atresia, Anteverted nares, Unde... |
OMIM:612138 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Stomach cancer, Abnormality o... |
ORPHA:2869 |
Sheldon-Hall Syndrome |
|
Vertebral segmentation defect, Abnormal hip bone morphology, Adducted thumb, Micrognathia, Overla... |
ORPHA:1147 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Broad nasal tip, Hypoplasia of the maxilla, Abnormality of the dentition |
ORPHA:2776 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
High palate, Bulbous nose, Cleft palate, Small finger, Hypoplasia of the maxilla, Clinodactyly of... |
OMIM:170390 |
Acromesomelic Dysplasia 2A |
|
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... |
OMIM:200700 |
Acromesomelic Dysplasia 4 |
|
Broad phalanx, Prominent sternum, Platyspondyly, Broad finger, Genu valgum, Rhizomelia, Sandal ga... |
OMIM:619636 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Stenosis of the medullary cavity of the long bones, T... |
ORPHA:93324 |
Cenani-Lenz Syndrome |
|
Finger syndactyly, Hypoplasia of the radius, Micromelia, Synostosis of carpal bones, Short thumb,... |
ORPHA:3258 |
Microcephaly-Micromelia Syndrome |
|
Narrow chest, Forearm undergrowth, Narrow mouth, Convex nasal ridge, Cleft palate, Craniosynostos... |
OMIM:251230 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Platyspondyly, Rhizomelia, Short... |
OMIM:601438 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Mucolipidosis Iii Alpha/Beta |
|
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Short r... |
OMIM:252600 |
Zttk Syndrome |
|
High palate, Craniosynostosis, Depressed nasal bridge, Abnormality of the dentition, Short philtr... |
OMIM:617140 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Depressed nasal bridge, Cupped ear, Hypoplasia of the maxilla, Low-set ears, Wide nasal bridge |
OMIM:167730 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Pectus excavatum, Cleft palate, Advanced eruption of teeth, Tapered finger, Ulnar deviation of fi... |
ORPHA:2215 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Low-set ears, Bulbous nose, Clinodactyly of the 5th finger, Microretrognathia, 2-3 toe syndactyly... |
OMIM:236500 |
Auriculocondylar Syndrome 1 |
|
Cleft at the superior portion of the pinna, Dental malocclusion, Narrow mouth, Apnea, Cleft palat... |
OMIM:602483 |
Nablus Mask-Like Facial Syndrome |
|
High palate, Narrow mouth, Joint contracture of the hand, Craniosynostosis, Retrognathia, Depress... |
OMIM:608156 |
Carpenter Syndrome 1 |
|
High palate, Abnormal pinna morphology, Aplasia/Hypoplasia of the middle phalanges of the toes, D... |
OMIM:201000 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... |
OMIM:264700 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Wid... |
OMIM:600081 |
Otopalatodigital Syndrome, Type Ii |
|
Pectus excavatum, Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation,... |
OMIM:304120 |
Frontometaphyseal Dysplasia 1 |
|
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Scapular w... |
OMIM:305620 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Depressed nasal ridge, Broad nasal tip, C1-C2 subluxation, Short nose, Hypoplasia of the maxilla,... |
ORPHA:79345 |
Marshall-Smith Syndrome |
|
High palate, Apnea, Airway obstruction, Pectus excavatum, Short sternum, Slender finger, Prominen... |
OMIM:602535 |
Rapp-Hodgkin Syndrome |
|
Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Depressed ... |
OMIM:129400 |
Isolated Cleft Lip |
|
Conductive hearing impairment, Velopharyngeal insufficiency, Hypodontia, Abnormal Eustachian tube... |
ORPHA:199302 |
Lethal Kniest-Like Dysplasia |
|
Narrow chest, Wide anterior fontanel, Hypoplastic vertebral bodies, Talipes equinovarus, Short ri... |
ORPHA:2347 |
Symphalangism, Proximal, 1A |
|
Stapes ankylosis, Conductive hearing impairment, Carpal synostosis, Aplasia/Hypoplasia of the mid... |
OMIM:185800 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Micrognathia, Femoral bowing, Biconcave vertebral bodies, Wormian bones, Bowing of the... |
OMIM:617952 |
Holt-Oram Syndrome |
|
Aplasia of the ulna, Short clavicles, Pectus excavatum, Thoracic scoliosis, Absent thumb, Hypopla... |
OMIM:142900 |
Lowry-Maclean Syndrome |
|
Convex nasal ridge, High, narrow palate, Cleft palate, Congenital diaphragmatic hernia, Retrognat... |
ORPHA:2409 |
Dysostosis, Stanescu Type |
|
Pectus excavatum, Convex nasal ridge, Tooth agenesis, Macroglossia, Massively thickened long bone... |
ORPHA:1798 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cleft palate, Short nose, Thoracic hypoplasia, Flexion contracture, Short ribs, Short femur, Micr... |
OMIM:616897 |
Distal Xq28 Microduplication Syndrome |
|
High palate, Asthma, Microtia, Broad nasal tip, Recurrent upper respiratory tract infections, Abs... |
ORPHA:293939 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Flexion contracture, Pallor, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle musc... |
OMIM:608423 |
Autosomal Dominant Omodysplasia |
|
Micrognathia, Short 1st metacarpal, Short humerus, Rhizomelia, Short palm, Patellar dislocation, ... |
ORPHA:93328 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Wide anterior fontanel, Tibial bowing, Dentinogenesis imperfecta, Radial bowing, Thin r... |
OMIM:610915 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Multiple small vertebral fractures, Back pain, Osteoarthritis of the small joints of the hand, De... |
ORPHA:93311 |
Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Butterfly vertebrae, Prominence of the premaxilla, Block vertebrae, Hemiv... |
OMIM:304050 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cleft upper lip, Anal atresia, Cleft palate, Microtia, Micrognathia, Atresia of the external audi... |
OMIM:236670 |
Pelvis-Shoulder Dysplasia |
|
Short clavicles, Clinodactyly of the 5th finger, Lumbar hyperlordosis, Back pain, Hypoplastic ili... |
OMIM:169550 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Micrognathia, Broad ulna, Short ti... |
OMIM:249700 |
Axenfeld-Rieger Syndrome |
|
Hypodontia, Everted lower lip vermilion, Depressed nasal bridge, Redundant skin, Microdontia, Hyp... |
ORPHA:782 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Irregular vertebral endplates, Micrognathia, Short humerus, Scoliosis, Rhizomelia, Stippled calci... |
OMIM:222765 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... |
OMIM:617604 |
Malan Syndrome |
|
Gingival overgrowth, Pectus excavatum, Narrow mouth, Everted lower lip vermilion, Retrognathia, A... |
OMIM:614753 |
Achondrogenesis Type 1A |
|
Narrow chest, Multiple rib fractures, Micrognathia, Short neck, Micromelia, Short foot, Short tho... |
ORPHA:93299 |
Craniofaciofrontodigital Syndrome |
|
Dental malocclusion, Pectus excavatum, Depressed nasal bridge, Abnormality of the dentition, Palm... |
OMIM:114620 |
Wolf-Hirschhorn Syndrome |
|
Abnormal pinna morphology, Cleft palate, Craniofacial asymmetry, Malrotation of small bowel, Shor... |
OMIM:194190 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Radioulnar synostos... |
ORPHA:2725 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Cleft palate, Lobulated tongue, Hypoplastic pelvis, Unicoronal synostosis, Anal atresia, Short ri... |
OMIM:616300 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Convex nasal ridge, Short metatarsal, Split foot, Broad hallux phalanx, Symph... |
ORPHA:1540 |
Cardiospondylocarpofacial Syndrome |
|
Wide mouth, Bulbous nose, Cone-shaped epiphysis, Rib fusion, Congenital sensorineural hearing imp... |
OMIM:157800 |
Otopalatodigital Syndrome, Type I |
|
Pectus excavatum, Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior... |
OMIM:311300 |
Barber-Say Syndrome |
|
High palate, Wide mouth, Bulbous nose, Microtia, first degree, Delayed eruption of teeth, Hypopla... |
OMIM:209885 |
Shprintzen-Goldberg Syndrome |
|
Apnea, Pectus excavatum, Craniosynostosis, Aplasia/Hypoplasia of the abdominal wall musculature, ... |
ORPHA:2462 |
Meier-Gorlin Syndrome 3 |
|
Hypoplasia of the maxilla, Absent sternal ossification, Microtia, Short ribs, Micrognathia, Trach... |
OMIM:613803 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Narrow chest, Respiratory distress, Short ribs, Hypoplasia of the radius, Depressed nasal bridge,... |
OMIM:617895 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Otitis media, Abnormality of the dentition, Genu valgum, Thick nasa... |
ORPHA:581 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Femoral bowing, Platyspondyly, Wormian bones, Thoracic kyphosis, Rhizomelia, Broad thumb, Short 4... |
OMIM:619638 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
High palate, Depressed nasal ridge, Depressed nasal bridge, 11 pairs of ribs, Delayed closure of ... |
OMIM:607872 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Abnormal pinna morphology, Cleft palate, Depressed nasal bridge, Long thorax, Short long bone, An... |
OMIM:617925 |
Aarskog-Scott Syndrome |
|
Large earlobe, Cleft upper lip, Pectus excavatum, Hypodontia, Cleft palate, Hyperextensibility of... |
OMIM:305400 |
Campomelic Dysplasia |
|
Narrow chest, Poorly ossified cervical vertebrae, Small abnormally formed scapulae, Tibial bowing... |
ORPHA:140 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal pinna morphology, Cleft palate, Depressed nasal bridge, Short nose, Bowing of the long b... |
ORPHA:90652 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Broad phalanx, Pectus excavatum, Platyspondyly, Micromelia, C1-C2 subluxation, Hip subluxation, P... |
OMIM:271665 |
Mosaic Trisomy 8 |
|
Abnormal antihelix morphology, Narrow chest, Abnormal pinna morphology, Protruding ear, High pala... |
ORPHA:96061 |
Achondrogenesis, Type Ia |
|
Hypoplastic sacrum, Hypoplasia of the radius, Barrel-shaped chest, Short neck, Micromelia, Severe... |
OMIM:200600 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Postaxial polydactyly, Short philtrum, Diastema, Overhanging nasal tip, ... |
OMIM:619142 |
Atelosteogenesis, Type Iii |
|
Tibial bowing, Radial bowing, Knee dislocation, Cleft palate, Malar flattening, Micrognathia, Dep... |
OMIM:108721 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, Bo... |
ORPHA:89936 |
Multiple Pterygium Syndrome, X-Linked |
|
Cleft upper lip, Amyoplasia, Multiple pterygia, Joint dislocation, Thin ribs, Cleft palate, Depre... |
OMIM:312150 |
Osteogenesis Imperfecta, Type Ii |
|
Tibial bowing, Beaded ribs, Thin ribs, Platyspondyly, Wormian bones, Bell-shaped thorax, Limb und... |
OMIM:166210 |
Doors Syndrome |
|
High palate, Bulbous nose, Macrodontia of permanent maxillary central incisor, Cleft palate, Broa... |
ORPHA:79500 |
Cohen Syndrome |
|
Pectus excavatum, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Short philtrum,... |
ORPHA:193 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Miscarriage, Absent glenoid fo... |
ORPHA:96334 |
Renal Dysplasia-Limb Defects Syndrome |
|
High palate, Aplasia of the ulna, Abnormal pinna morphology, Narrow mouth, Convex nasal ridge, Sh... |
OMIM:266910 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Pectus excavatum, Dentinogenesis imperfecta, Microretrognathia, Thin ribs, Coronal cran... |
OMIM:616294 |
Cleidocranial Dysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Spondylolisthesis, Short ribs, Micrognathia, ... |
OMIM:119600 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Barrel-shaped chest, Short neck, Platyspondyly, Upper limb undergr... |
ORPHA:94068 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Micrognathia, Brachydactyly, Thin ribs, Craniosynostosis |
OMIM:618265 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Coxa vara, Flat capital femoral epiphysis, Short femur, Micrognathia, Wide capital femoral epiphy... |
OMIM:147891 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Apnea, Pursed lips, Femoral bowing, Carious teeth, Ulnar deviation of finger, Sh... |
OMIM:601559 |
Meier-Gorlin Syndrome 4 |
|
Narrow mouth, Genu recurvatum, Microtia, Micrognathia, Slender long bone, Hypoplasia of the maxil... |
OMIM:613804 |
Ellis-Van Creveld Syndrome |
|
Narrow chest, Acetabular spurs, Talipes equinovarus, Short ribs, Cone-shaped epiphyses of phalang... |
OMIM:225500 |
Cohen Syndrome |
|
Facial hypotonia, Thoracic scoliosis, Convex nasal ridge, Macrodontia of permanent maxillary cent... |
OMIM:216550 |
Omodysplasia 2 |
|
Dislocated radial head, Short 1st metacarpal, Short humerus, Rhizomelic arm shortening, Limited e... |
OMIM:164745 |
Cornelia De Lange Syndrome |
|
High palate, Cleft palate, Depressed nasal bridge, Delayed eruption of teeth, Pyloric stenosis, S... |
ORPHA:199 |
Microtia |
|
Abnormal pinna morphology, Microtia, Anotia, Atresia of the external auditory canal, Hypoplastic ... |
ORPHA:83463 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Cone-shaped epiphyses of the phalanges of the hand, Short neck, 11 pairs of ribs, Platyspondyly, ... |
OMIM:250220 |
Trisomy 1Q |
|
Anal atresia, Narrow mouth, Microretrognathia, Congenital diaphragmatic hernia, Cleft palate, Ara... |
ORPHA:261344 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Conductive hearing impairment, Cleft upper lip, Cleft palate, Micrognathia, Abn... |
OMIM:601076 |
Vitamin D-Dependent Rickets, Type 2A |
|
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... |
OMIM:277440 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... |
OMIM:601376 |
Kniest-Like Dysplasia, Lethal |
|
Narrow chest, Metaphyseal irregularity, Wide anterior fontanel, Hypoplastic vertebral bodies, Tal... |
OMIM:245190 |
Achondrogenesis, Type Ii |
|
Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Absent vertebral body mineraliz... |
OMIM:200610 |
Auriculocondylar Syndrome |
|
Abnormal pinna morphology, Abnormality of the crus of the helix, Cleft palate, Mandibular condyle... |
ORPHA:137888 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Pectus excavatum, Micrognathia, Darwin tubercle of helix, Unilateral cleft palate, Unilateral cle... |
OMIM:619122 |
Apert Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Ectopic anus, Narrow palate, Con... |
ORPHA:87 |
Hypophosphatasia |
|
Narrow chest, Craniosynostosis, Abnormal rib morphology, Bowing of the long bones, Abnormal metap... |
ORPHA:436 |
Thanatophoric Dysplasia Type 1 |
|
Narrow chest, Kyphosis, Wide anterior fontanel, Short femur, Femoral bowing, Hypoplastic ilia, Pl... |
ORPHA:1860 |
Sillence Syndrome |
|
Platyspondyly, Large tarsal bones, Back pain, Chess-pawn distal phalanges, Aplasia of the middle ... |
ORPHA:3168 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Aplasia/Hypoplasia of the ulna, Short humerus, Micromelia, Abnormality of the elbow, Postaxial ha... |
ORPHA:2491 |
Pontine Tegmental Cap Dysplasia |
|
Sensorineural hearing impairment, Rib fusion, Ankle clonus, Aspiration, Dysphagia, Facial palsy |
OMIM:614688 |
Kenny-Caffey Syndrome, Type 1 |
|
Thin ribs, Long clavicles, Small hand, Thin clavicles, Slender long bone, Carious teeth, Short fo... |
OMIM:244460 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis,... |
OMIM:271520 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... |
ORPHA:2639 |
Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Depressed nasal ridge, Depressed nasal bridge, Barrel-shape... |
OMIM:215140 |
Pallister-Hall Syndrome |
|
Depressed nasal ridge, Cleft palate, Short nose, Radial head subluxation, Polydactyly affecting t... |
ORPHA:672 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Prominent nasal tip, Lower-limb joint contracture, Cleft palate, Tracheomalacia, Abnormal Eustach... |
ORPHA:513456 |
Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Cholesteatoma |
OMIM:614113 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Pectus carinatum, Block vertebrae, Vertebral segmentation defect, Epiphyseal dysplasi... |
OMIM:272460 |
Melnick-Needles Syndrome |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Delayed eruption of teeth, ... |
OMIM:309350 |
Frontorhiny |
|
Congenital conductive hearing impairment, Cleft palate, Camptodactyly of finger, Bifid tongue, Lo... |
ORPHA:391474 |
Multiple Pterygium Syndrome, Lethal Type |
|
Amyoplasia, Multiple pterygia, Joint dislocation, Thin ribs, Cleft palate, Depressed nasal ridge,... |
OMIM:253290 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... |
OMIM:304400 |
Mucopolysaccharidosis, Type X |
|
Beaking of vertebral bodies, Platyspondyly, Scoliosis, Broad clavicles, Hyperlordosis, Irregular ... |
OMIM:619698 |
Atelosteogenesis Type Ii |
|
Broad phalanx, Short neck, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Dumbbel... |
ORPHA:56304 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Cone-shaped epiphysi... |
ORPHA:457395 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... |
ORPHA:85167 |
Atelosteogenesis Type I |
|
Narrow chest, Talipes equinovarus, Joint dislocation, Short femur, Abnormal ossification involvin... |
ORPHA:1190 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... |
OMIM:127300 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Vertigo, Pallor |
ORPHA:71518 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Abnormality of cartilage of external ear, Depressed nasal tip, Recurrent upper respiratory tract ... |
ORPHA:2399 |
Phaver Syndrome |
|
Conductive hearing impairment, Overfolded helix, Depressed nasal bridge, Camptodactyly of finger,... |
ORPHA:2876 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Hypodontia, Everted lower lip vermilion, Short philtrum, Microdontia, Hypoplasia of the maxilla, ... |
OMIM:601499 |
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 |
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Eruption failure, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Delayed eruption of p... |
OMIM:273050 |
Axial Mesodermal Dysplasia Spectrum |
|
Vertebral segmentation defect, Micrognathia, Short neck, Scoliosis, Abnormal form of the vertebra... |
ORPHA:1834 |
Acrofacial Dysostosis, Cincinnati Type |
|
Flared lower limb metaphysis, Cleft palate, Microtia, Retrognathia, Micrognathia, Femoral bowing,... |
OMIM:616462 |
Marshall Syndrome |
|
Sensorineural hearing impairment, High palate, Thick upper lip vermilion, Malar flattening, Cleft... |
ORPHA:560 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Delayed proximal femoral epiphyseal ossification, Short neck, 11 pairs of ribs, Platyspondyly, Ge... |
OMIM:271640 |
Auditory Neuropathy And Optic Atrophy |
|
Pallor, Hearing impairment |
OMIM:617717 |
3Mc Syndrome 2 |
|
Cleft upper lip, Diastasis recti, Torticollis, Hypoplasia of the musculature, Cleft palate, Promi... |
OMIM:265050 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Macroglossia, Recurrent upper respiratory tract infections, Chro... |
ORPHA:583 |
Autosomal Recessive Malignant Osteopetrosis |
|
Narrow chest, Apnea, Otitis media, Pallor, Craniosynostosis, Premature loss of primary teeth, Del... |
ORPHA:667 |
Myopathy, Mitochondrial, And Ataxia |
|
High palate, Pectus excavatum, Pallor, Micrognathia, Increased variability in muscle fiber diamet... |
OMIM:617675 |
Schneckenbecken Dysplasia |
|
Narrow chest, Hypoplastic vertebral bodies, Lateral clavicle hook, Short ribs, Increased fibular ... |
ORPHA:3144 |
Codas Syndrome |
|
Coronal cleft vertebrae, Congenital hip dislocation, Brachydactyly, Delayed eruption of teeth, Sc... |
ORPHA:1458 |
Radio-Renal Syndrome |
|
Respiratory distress, Convex nasal ridge, High, narrow palate, Chylothorax, Retrognathia, Microgn... |
ORPHA:3015 |
Raine Syndrome |
|
High palate, Wide mouth, Abnormal pinna morphology, Pectus excavatum, Cleft palate, Depressed nas... |
OMIM:259775 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Diastasis recti, Overlapping toe, Pectus excavatum, Prominent sternum, Flexion contracture of fin... |
ORPHA:254528 |
Treacher-Collins Syndrome |
|
High palate, Wide mouth, Cleft palate, Abnormality of the dentition, Branchial fistula, Tracheoes... |
ORPHA:861 |
Glutamine Deficiency, Congenital |
|
Apnea, Flexion contracture, Thin vermilion border, Depressed nasal bridge, Erythema, Neonatal dea... |
OMIM:610015 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor, Dysphagia, Difficulty in tongue movements, Spasticity of facial muscles |
OMIM:606353 |
Sclerosteosis 1 |
|
Cortically dense long tubular bones, Dental malocclusion, Tooth malposition, Malar flattening, De... |
OMIM:269500 |
Dermatitis, Atopic |
|
Asthma, Pallor, Dry skin, Facial erythema, Allergic rhinitis |
OMIM:603165 |
Pfeiffer Syndrome |
|
High palate, Elbow ankylosis, Humeroradial synostosis, Coronal craniosynostosis, Depressed nasal ... |
OMIM:101600 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... |
OMIM:118100 |
Cat-Eye Syndrome |
|
Abnormal rib morphology, Hip dysplasia |
ORPHA:195 |
Hemifacial Hyperplasia |
|
Dental malocclusion, Hypoplasia of the maxilla |
OMIM:133900 |
Orofaciodigital Syndrome Iii |
|
Bulbous nose, Pectus excavatum, Supernumerary tooth, Short sternum, Bifid tongue, Bifid uvula, Mi... |
OMIM:258850 |
Cystic Fibrosis |
|
Reduced forced expiratory volume in one second, Ileus, Asthma, Steatorrhea, Meconium ileus, Chron... |
OMIM:219700 |
Fibular Hemimelia |
|
Craniosynostosis, Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip sublu... |
ORPHA:93323 |
Acrorenal-Mandibular Syndrome |
|
Narrow chest, Kyphoscoliosis, Butterfly vertebrae, Thin ribs, Split foot, Hypoplasia of the radiu... |
OMIM:200980 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Cleft palate, Absent thumb, Depressed nasal bridge, Short philtrum, Short nose, Sagittal craniosy... |
ORPHA:500150 |
Osteogenesis Imperfecta, Type X |
|
Narrow chest, Dentinogenesis imperfecta, Thin ribs, Micrognathia, Platyspondyly, Micromelia, Scol... |
OMIM:613848 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Lateral clavicle hook, Po... |
OMIM:613091 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Tibial bowing, Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Femoral bowing, Fibula... |
ORPHA:85165 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Congenital diaphragmatic hernia, Metatarsal osteolysis, Micrognathia, Bilateral elbow dislocation... |
OMIM:166300 |
Osteopathia Striata With Cranial Sclerosis |
|
High palate, Apnea, Pectus excavatum, Cleft palate, Overfolded helix, Broad ribs, Delayed closure... |
OMIM:300373 |
Elsahy-Waters Syndrome |
|
High palate, Bulbous nose, Pectus excavatum, Impacted tooth, Delayed eruption of teeth, Hypoplasi... |
OMIM:211380 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Short distal phalanx of finger, Narrow chest, Thin ribs, Triangular shaped distal phalanges of th... |
ORPHA:73230 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Spinal canal stenosis, Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal d... |
OMIM:307800 |
Bruck Syndrome 2 |
|
Talipes equinovarus, Femoral bowing, Platyspondyly, Wormian bones, Pectus carinatum, Elbow flexio... |
OMIM:609220 |
Peutz-Jeghers Syndrome |
|
Intestinal bleeding, Multiple gastric polyps, Intussusception, Labial melanotic macule, Rectal pr... |
OMIM:175200 |
Craniolenticulosutural Dysplasia |
|
Narrow chest, High palate, Wide mouth, Premature loss of teeth, Thin vermilion border, High iliac... |
ORPHA:50814 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Conductive hearing impairment, Cleft palate, Camptodactyly of finger, Bifid nose, Low-set, poster... |
ORPHA:306542 |
Pyknoachondrogenesis |
|
Enlarged thorax, Abnormal iliac wing morphology, Unossified sacrum, Short ribs, Micromelia, Hypop... |
ORPHA:3003 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Brachydactyly, Micromelia, Ulnar deviation of finger, Abnormal pelvic gi... |
ORPHA:2928 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Proximal symphalangism of hands, Abnormality of the dentition, Broad ribs, Anteriorly placed anus... |
OMIM:151050 |
Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Thoracic hypoplasia... |
ORPHA:1505 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Wid... |
OMIM:241530 |
Crane-Heise Syndrome |
|
Short distal phalanx of finger, Talipes equinovarus, Abnormally ossified vertebrae, Micrognathia,... |
ORPHA:1512 |
Hyperparathyroidism, Transient Neonatal |
|
Narrow chest, Femoral bowing, Thin ribs, Short ribs |
OMIM:618188 |
1P36 Deletion Syndrome |
|
Depressed nasal ridge, Depressed nasal bridge, 11 pairs of ribs, Pyloric stenosis, Rib fusion, Cl... |
ORPHA:1606 |
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
|
Tibial bowing, Absent ossification of capital femoral epiphysis, Femoral bowing, Short neck, Plat... |
OMIM:245160 |
Spastic Paraplegia 16, X-Linked |
|