Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect |
OMIM:608681 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Abnormality of the ... |
ORPHA:3268 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Cervical Vertebral Dysplasia |
|
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r... |
OMIM:173800 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... |
OMIM:617405 |
Proliferating Trichilemmal Cyst |
|
Skin ulcer |
ORPHA:492 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Short ribs, Bell-shaped thorax |
OMIM:187750 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Pyoderma gangrenosum |
OMIM:619986 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Abnormal rib morpholo... |
ORPHA:2790 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short femur, Micrognathia, Abnormal sacrum morphology, Rib fusion, Abno... |
ORPHA:1988 |
Becker Nevus Syndrome |
|
Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerar... |
ORPHA:64755 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... |
OMIM:187760 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
Pyle Disease |
|
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t... |
OMIM:265900 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Erythema, Skin ulcer |
ORPHA:2337 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Flared, irregular rib ends, Coxa vara, Short palm |
ORPHA:168555 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Micrognathia... |
ORPHA:1801 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Anonychia-Microcephaly Syndrome |
|
Clinodactyly of the 5th finger, Carious teeth, Abnormality of the dentition |
ORPHA:1094 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Narrow chest, Abnormal ... |
ORPHA:1354 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A... |
OMIM:602196 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Hypersulfaturia |
|
Costochondral pain |
OMIM:620372 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... |
OMIM:613686 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Abnormal pala... |
ORPHA:1506 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Halberd-shaped pelvis, Narr... |
OMIM:156530 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... |
ORPHA:2311 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Irregular vertebral endplates, Knee dislocation, High palate... |
OMIM:618363 |
Fibrochondrogenesis 2 |
|
Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti... |
OMIM:614524 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... |
OMIM:615633 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Abnormali... |
ORPHA:2501 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Waddling gait, Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum,... |
OMIM:271650 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notch, Waddling ... |
OMIM:608728 |
Thoracopelvic Dysostosis |
|
Short ribs |
OMIM:187770 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... |
OMIM:609616 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Osteoarthritis, Abnormal joint morphology, Abnormal rib morphology, Abnormal ca... |
ORPHA:93351 |
Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Pectus excavatum, Kyphosis, Dentinogenesis imperfecta, Pectus carinatum, Platyspondy... |
OMIM:259440 |
Dermatofibrosarcoma Protuberans |
|
Erythema, Skin ulcer |
ORPHA:31112 |
Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis |
OMIM:604919 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... |
ORPHA:474 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal rib morpholo... |
ORPHA:2635 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Short stature, Proximal femoral metaphyseal irregularity, Dispr... |
OMIM:602271 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retardation, Proxi... |
ORPHA:168549 |
Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Short neck, Tapered finger, Multiple joint dislocation, Hip dislocation, ... |
OMIM:618395 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Abnormality of the ... |
ORPHA:276422 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs |
ORPHA:66630 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Diaphanospondylodysostosis |
|
Short neck, Missing ribs, Short thorax, Enlarged thorax, Narrow pelvis bone, Absent or minimally ... |
ORPHA:66637 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... |
OMIM:184252 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Micrognathia, Open bite, Abnormal rib morphology, Ab... |
ORPHA:2097 |
Cerebrofaciothoracic Dysplasia |
|
Short neck, Cleft upper lip, Rib fusion, Hemivertebrae, Cleft palate, Wide mouth, Vertebral segme... |
ORPHA:1394 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Dental malocclusion,... |
OMIM:608940 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Short neck, Micrognathia, Glossoptosis, Vertebral segmentation defect, High p... |
OMIM:611209 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Short neck, Micrognathia, Knee flexion contracture, Downturned corners of mouth, High palate, Int... |
OMIM:265000 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bo... |
OMIM:602111 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Abnormal dental morphology, Hyperlordosis, Pectus excavatum, Short ... |
ORPHA:2522 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb, Short neck, ... |
ORPHA:93267 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Abnormal dental enamel morphology, Hyperlordosis, Sh... |
ORPHA:582 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... |
OMIM:184250 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft palate, Abnormal shoulder ... |
ORPHA:2345 |
Thoracomelic Dysplasia |
|
Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Bell-shape... |
ORPHA:1803 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ... |
ORPHA:239 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Short palm,... |
OMIM:268310 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Pseudoachondroplasia |
|
Genu recurvatum, Spatulate ribs, Osteoarthritis, Delayed epiphyseal ossification, Metaphyseal wid... |
OMIM:177170 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Downturned corners of mouth, Abnormal epiphysis morphology, Enamel hypop... |
ORPHA:2643 |
Dental Ankylosis |
|
Clinodactyly of the 5th finger, Tooth agenesis, Abnormal dental enamel morphology, Mandibular pro... |
ORPHA:1077 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, He... |
ORPHA:2180 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Dental malocclusion, Abnormal pelvic girdle bone morphology, Metacarpal... |
OMIM:144750 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Micrognathia, Short neck, Abnormal rib morphology, Cleft palate, Wide mo... |
ORPHA:1703 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, K... |
OMIM:313400 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Pectus carinatum, Downturn... |
ORPHA:1507 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar... |
ORPHA:1452 |
Hypophosphatasia, Childhood |
|
Premature loss of primary teeth, Craniosynostosis, Carious teeth, Bowing of the legs, Rachitic ro... |
OMIM:241510 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Chilblain Lupus 1 |
|
Skin ulcer |
OMIM:610448 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... |
OMIM:253000 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Skin ulcer, Gait disturbance, Acral ulceration, Abnorm... |
ORPHA:139578 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... |
OMIM:223800 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, Bell-shaped tho... |
OMIM:255710 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Postaxial polydactyly, Accessory oral frenulum, Diastema, Cleft lip, Preaxial polydac... |
OMIM:617927 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Wormian bones, Coxa valga,... |
OMIM:269300 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... |
ORPHA:392 |
Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis, Pseudoarthrosis |
OMIM:618155 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finge... |
ORPHA:628 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Delayed cranial s... |
ORPHA:2484 |
Kbg Syndrome |
|
Vertebral fusion, Syndactyly, Tented upper lip vermilion, Macrodontia, Short neck, Rib fusion, Ve... |
OMIM:148050 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... |
ORPHA:2319 |
Pycnodysostosis |
|
Brachydactyly, Persistent open anterior fontanelle, Wormian bones, Aplastic clavicle, Micrognathi... |
OMIM:265800 |
Dysosteosclerosis |
|
Micrognathia, Increased intervertebral space, Absent frontal sinuses, Hypoplastic vertebral bodie... |
OMIM:224300 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Multiple pterygia, Micrognathia, Pectus excavatum, Ri... |
ORPHA:2990 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ... |
ORPHA:2972 |
3M Syndrome |
|
Congenital hip dislocation, Short neck, Increased vertebral height, Enlarged thorax, Clinodactyly... |
ORPHA:2616 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Craniofacial osteosclerosis, Di... |
OMIM:122860 |
White Forelock With Malformations |
|
Finger syndactyly, Deep philtrum, Abnormal rib morphology, Clinodactyly of the 5th finger, Spreng... |
ORPHA:2475 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Sho... |
OMIM:612921 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Diastema, Open bite, G... |
OMIM:619698 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Abnormal number of incisors, Coxa valga, Finger clinodactyly, Patellar subluxation, Supernumerary... |
ORPHA:2958 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Short neck, Micrognathia, Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the... |
ORPHA:1486 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kypho... |
ORPHA:3082 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:2234 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... |
OMIM:600002 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... |
OMIM:269250 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ... |
ORPHA:2050 |
Pontine Tegmental Cap Dysplasia |
|
Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis |
OMIM:614688 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... |
OMIM:187601 |
Cog1-Cdg |
|
Smooth philtrum, Irregularity of vertebral bodies, Thin upper lip vermilion, Kyphoscoliosis, Shor... |
ORPHA:263508 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Micrognathia, Cleft upper lip, Abnormal rib morphology, Cleft palate, Abnormality of the vertebra... |
OMIM:601076 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Micrognathia, Rib fusion, Cleft palate, Hand polydactyly, Scoliosis, Abnormal v... |
ORPHA:261197 |
Trichotillomania |
|
Hair-pulling, Alopecia |
OMIM:613229 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Short neck, Micrognathia, Hypoplasia of the maxilla, Hem... |
OMIM:213980 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Kyphosis, Dental malocclusion... |
ORPHA:1858 |
Achondrogenesis Type 1B |
|
Short neck, Micrognathia, Short thorax, Abnormal rib morphology, Short foot, Narrow chest, Long p... |
ORPHA:93298 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Thoracic kyphoscoliosis, Generalized hypoplasia of dental enamel, Carious teeth, Hip dislocation,... |
OMIM:203550 |
Hypophosphatasia |
|
Bowing of the long bones, Craniosynostosis, Abnormality of the dentition, Abnormal rib morphology... |
ORPHA:436 |
Classic Mycosis Fungoides |
|
Alopecia, Splenomegaly, Erythema, Skin ulcer, Dry skin, Abnormal lymphocyte morphology, Abnormali... |
ORPHA:2584 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... |
OMIM:134780 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Small hand, Th... |
ORPHA:93324 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... |
OMIM:228520 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... |
OMIM:250420 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty... |
ORPHA:97360 |
Chst3-Related Skeletal Dysplasia |
|
Barrel-shaped chest, Delayed eruption of teeth, Short metacarpal, Enlarged joints, Kyphoscoliosis... |
ORPHA:263463 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Coxa vara, Metaphyseal cupping of metacarpals, Thoracic kyphosi... |
OMIM:300232 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Thin ribs... |
OMIM:300863 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Neuropathic arthropathy, Inability to walk, Penetrating foot ulcers, Skin ulcer, Steppage gait, G... |
ORPHA:36386 |
Cat-Eye Syndrome |
|
Hip dysplasia, Abnormal rib morphology |
ORPHA:195 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, Abnormal form... |
ORPHA:2021 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Missing ribs, Abno... |
ORPHA:2759 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... |
OMIM:225500 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Craniosynostosis, Micrognathia, Split hand, Abnormal rib morphology, Cleft pal... |
ORPHA:2145 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Short neck, Micrognathia, Hemivertebrae, Orofacial cleft, Pectus ca... |
ORPHA:958 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Disc-like vertebral bodies, Radial bowing, Ovoid vertebral bodies, Dumbbell-shaped long bone, Sho... |
OMIM:151210 |
Acrogeria |
|
Short stature, Small hand, Skin ulcer, Short foot, Excessive wrinkled skin, Scoliosis |
ORPHA:2500 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Abnormal ri... |
ORPHA:3035 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Post... |
OMIM:258850 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Missing ribs, Cleft upper lip, Rib fusion, Small h... |
ORPHA:50 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Cleft palate, Scoliosis, Cervical C2/C3 vertebral fusion, Sp... |
OMIM:118100 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Short Stature And Facioauriculothoracic Malformations |
|
Abnormal odontoid process morphology, Short neck, Pectus excavatum, Cleft upper lip, Cleft palate... |
OMIM:609654 |
Cenani-Lenz Syndrome |
|
High, narrow palate, Abnormal form of the vertebral bodies, Foot oligodactyly, Short philtrum, Sy... |
ORPHA:3258 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Delayed closure of the anterior fontanelle, Carious teeth, Thin clavicles, Small ... |
OMIM:244460 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Aplastic clavicle, Missing ribs, C... |
ORPHA:2769 |
Acrocapitofemoral Dysplasia |
|
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... |
OMIM:607778 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Platyspondyly, Oligodontia, Widely spaced teeth... |
OMIM:601216 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Down-sloping shoulders, Carious teeth, Scoliosis, Clinodactyly of the 5th finger, Malar flattenin... |
ORPHA:1390 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S... |
OMIM:200610 |
Renpenning Syndrome |
|
Mandibular prognathia, Macrodontia, Pectus excavatum, Abnormal thumb morphology, High, narrow pal... |
ORPHA:3242 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Beaded ribs, Thin ribs, Bell-shaped thorax, Tibial bowing,... |
OMIM:166210 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Facial palsy, Skin ulcer |
ORPHA:1114 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Short neck, Micrognathia, Short thorax, Short foot, Narrow chest, Short p... |
ORPHA:93299 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,... |
ORPHA:163966 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... |
OMIM:253010 |
Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Obtuse angle of mandible, Short tubular bones of the hand, Coxa valga, Micrognathia, Vertebral ar... |
ORPHA:85184 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Short neck, Kyphosis, Flat capital femoral epiphysis, Pectus carinatum, Genu valgu... |
OMIM:252605 |
Lymphangiectasia, Intestinal |
|
Prominent floating ribs |
OMIM:152800 |
Three M Syndrome 1 |
|
Joint dislocation, Scapular winging, Short stature, Short neck, Pectus excavatum, Postnatal growt... |
OMIM:273750 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Genu varum, Fibular overgrowth... |
OMIM:602557 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners ... |
ORPHA:280 |
Hyperkeratosis Lenticularis Perstans |
|
Skin ulcer |
ORPHA:409 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Beaded ri... |
OMIM:616229 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Slender long bone, Retrognathia, Brachyd... |
OMIM:618265 |
Pallister-Hall Syndrome |
|
Syndactyly, Natal tooth, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, ... |
OMIM:146510 |
Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Straight clavicles, Short clavicles, Multiple impacted teeth,... |
OMIM:113300 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Micrognathia, Kyphosis, Tibial bowing, Thin ribs, Slender long bone, Scolios... |
OMIM:259420 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Skin ulcer |
ORPHA:2218 |
Osteogenesis Imperfecta, Type Xviii |
|
Bowing of the long bones, Micrognathia, Abnormality of the dentition, Femoral bowing, Thin ribs, ... |
OMIM:617952 |
Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula... |
OMIM:252600 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Lateral clavicle hook, Hypoplastic ilia, ... |
OMIM:617895 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Proximal placement of thumb, Missing ribs, Cleft u... |
OMIM:304050 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... |
OMIM:206900 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Tapered toe, Tapered finger, Rib fusion, Clinodactyly of the 5th finger, Retrognathia |
ORPHA:544488 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Accessory oral frenulum, Short thorax, Osteolysis involving bones of the upper limbs,... |
ORPHA:88630 |
Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Bowing of the legs, Pectus excavatum, Coxa valga, Coxa vara, Bell-shaped tho... |
OMIM:619131 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Micrognathia, Carious teeth, Flared metaphysis, Hypoplastic pubic ... |
ORPHA:93346 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Abnormal rib morphology, Cleft palate,... |
ORPHA:83 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Wide cranial sutures, Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, Hi... |
OMIM:616294 |
Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Abnormal rib morphology, Abnormal for... |
ORPHA:2876 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu... |
OMIM:187600 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... |
OMIM:211350 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Abno... |
ORPHA:1488 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Persistent open anterior fontanelle, Wormian bones, Abnormal dental ena... |
ORPHA:1798 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormality of the wrist, Osteoarthritis, Skin ulcer, Abnormal diaphysis morph... |
ORPHA:1657 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Short stature, Iliac crest serration, Short neck, Postnatal growth retardation, Wide distal femor... |
OMIM:613320 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... |
ORPHA:1145 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent... |
OMIM:119600 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia |
OMIM:226650 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue, Abn... |
ORPHA:2167 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Enlargement of the ankles, Bulging epiphyses, Bowing of the legs, Enlargement of the costochondra... |
OMIM:600081 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Micrognathia, Non-midline c... |
ORPHA:1300 |
Aplasia Cutis-Myopia Syndrome |
|
Skin ulcer |
ORPHA:1117 |
Achondrogenesis, Type Ia |
|
Barrel-shaped chest, Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sa... |
OMIM:200600 |
Eem Syndrome |
|
Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Ectrodact... |
ORPHA:1897 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... |
ORPHA:2347 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Redundant skin, Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow gr... |
OMIM:250220 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of ... |
OMIM:613091 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Lateral clavicle hook, Hypoplasia of the... |
OMIM:600920 |
Desbuquois Dysplasia 2 |
|
Short neck, Metaphyseal widening, Pectus carinatum, Knee dislocation, Narrow chest, Short phalanx... |
OMIM:615777 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Abnormal form of the vertebral bodies, Orofacial cleft, Downturned corners of mouth... |
OMIM:194190 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Kyphosis, Thick lower lip ve... |
ORPHA:583 |
Osteogenesis Imperfecta, Type X |
|
Multiple rib fractures, Thoracic scoliosis, Short femur, Bowing of the long bones, Micrognathia, ... |
OMIM:613848 |
X-Linked Hypophosphatemia |
|
Beaded ribs, Bowing of the legs, Trapezoidal distal femoral condyles, Vertebral hyperostosis, Abn... |
ORPHA:89936 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short thorax, ... |
OMIM:617102 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, High palate, Spina bifida occulta, Abn... |
OMIM:218600 |
Cleidocranial Dysplasia 2 |
|
Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Delayed eruptio... |
OMIM:620099 |
Xylt1-Cdg |
|
Joint dislocation, Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Thick vermilion ... |
ORPHA:370930 |
Trichorhinophalangeal Syndrome, Type I |
|
Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Pectus carinatum, Cone-shaped epip... |
OMIM:190350 |
Dracunculiasis |
|
Arthritis, Skin ulcer |
ORPHA:231 |
Juvenile Hyaline Fibromatosis |
|
Abnormal hair morphology, Skin ulcer |
ORPHA:2028 |
Radio-Renal Syndrome |
|
Short neck, Micrognathia, High, narrow palate, Hypoplasia of the radius, Abnormal rib morphology,... |
ORPHA:3015 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... |
OMIM:186500 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... |
ORPHA:79345 |
Zttk Syndrome |
|
Craniosynostosis, Abnormality of the dentition, Hypoplasia of the maxilla, Kyphosis, Narrow mouth... |
OMIM:617140 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Retrognathia, High palate, Thin ribs |
ORPHA:456328 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Pycnodysostosis |
|
Abnormal clavicle morphology, Obtuse angle of mandible, Persistent open anterior fontanelle, Micr... |
ORPHA:763 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Hyperlordosis, Abnormal rib morphology, Pectus carinatum, Abnormal hip... |
ORPHA:3068 |
Distal Duplication 18Q |
|
Arachnodactyly, Camptodactyly of finger, Abnormal dental morphology, Short neck, Pectus excavatum... |
ORPHA:1716 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Micrognathia, Pectus excavatum, Submucous cleft hard palate, Unilateral cleft l... |
OMIM:619122 |
Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,... |
OMIM:619636 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Anemia, Leukopenia, Pallo... |
ORPHA:507 |
Complex Regional Pain Syndrome |
|
Abnormality of hair growth, Slow-growing nails, Erythema, Dry skin, Allodynia |
ORPHA:83452 |
Reticular Dysgenesis |
|
Anemia, Leukopenia, Skin ulcer, Abnormality of neutrophils |
ORPHA:33355 |
Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Sclerotic scapulae, Broad clavicles, Malar flattening, 2-3 fin... |
OMIM:269500 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Short palm, Hy... |
OMIM:611717 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Preaxial hand polydactyly, Sprengel anomaly, Cervical ribs, Thoracolumbar scoliosis |
OMIM:601389 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Hypoplastic ischia, Short iliac bones, Short thorax, Abnormal iliac wi... |
ORPHA:3003 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Thin ribs, ... |
OMIM:610915 |
Free Sialic Acid Storage Disease |
|
Athetosis, Gait disturbance, Ataxia, Skin ulcer |
ORPHA:834 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal... |
ORPHA:90652 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Skin ulcer, Purpura |
ORPHA:743 |
Infantile Myofibromatosis |
|
Abnormal thorax morphology, Abnormal sacrum morphology, Skin ulcer, Abnormal metaphysis morpholog... |
ORPHA:2591 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:253290 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology |
ORPHA:2772 |
Ollier Disease |
|
Abnormal metaphysis morphology, Skin ulcer, Platyspondyly |
ORPHA:296 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subp... |
OMIM:264700 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac... |
ORPHA:85167 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... |
OMIM:271640 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Posterior wedging of vertebr... |
ORPHA:50814 |
Monosomy 18P |
|
Kyphoscoliosis, Short neck, Pectus excavatum, Micrognathia, Carious teeth, Cleft palate, Downturn... |
ORPHA:1598 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Exaggerated ... |
ORPHA:2215 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Short neck, Missing ribs, Micrognathia, Abnormal rib morphology, Gingiva... |
ORPHA:1834 |
Bent Bone Dysplasia Syndrome 2 |
|
Bowed humerus, Short neck, Ulnar bowing, Thin ribs, Femoral bowing, Coronal cleft vertebrae, Plat... |
OMIM:620076 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Coxa v... |
ORPHA:1517 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... |
ORPHA:2519 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Short femur, Fractured radius, Short neck, Beaded ribs, Decreased fibular... |
OMIM:616897 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th fing... |
OMIM:117650 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short neck, Bowing of the legs, Micrognathia, Pectus carinatum, Abnormal calcification of the car... |
OMIM:271665 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, A... |
ORPHA:1120 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subp... |
OMIM:277440 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
Necrobiosis Lipoidica |
|
Erythema, Granuloma, Skin ulcer, Abnormality of neutrophil physiology |
ORPHA:542592 |
Flynn-Aird Syndrome |
|
Kyphosis, Ataxia, Skin ulcer, Scoliosis |
ORPHA:2047 |
Trisomy 13 |
|
Median cleft lip, Abnormality of the dentition, Kyphosis, Postaxial hand polydactyly, High, narro... |
ORPHA:3378 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Pyoderma gangrenosum, Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
Limited Cutaneous Systemic Sclerosis |
|
Narrow foramen obturatorium, Joint contracture of the hand, Skin ulcer |
ORPHA:220402 |
Greenberg Dysplasia |
|
Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Tetraphocomelia, Hypoplastic vertebral bodi... |
OMIM:215140 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of neutrophils, Thrombocytopenia, Skin ulcer, ... |
ORPHA:229717 |
Lichen Planopilaris |
|
Alopecia, Onycholysis, Abnormal fingernail morphology, Skin ulcer |
ORPHA:525 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bo... |
ORPHA:73230 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ... |
OMIM:616300 |
Adult Polyglucosan Body Disease |
|
Gait disturbance, Ataxia, Skin ulcer |
ORPHA:206583 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Pyoderma gangrenosum, B lymphocytopen... |
OMIM:150550 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overlapping fingers, Short neck, Micrognathia, Narrow palate, Femoral bowing,... |
OMIM:617022 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Enlargement of the ankles, Bulging epiphyses, Bowing of the legs, Enlargement of the costochondra... |
OMIM:241530 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Abnormal sternum mo... |
ORPHA:2911 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Skin ulcer, ... |
ORPHA:978 |
Cardiospondylocarpofacial Syndrome |
|
Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Fused cervical vertebrae, Pseudoepiphyses, ... |
OMIM:157800 |
Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Bowing of the long bones, Abnormal thorax morphology, Abnormal rib... |
ORPHA:1318 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Kyphoscoliosis, Tapered finger, Short neck, Micrognathia, Narrow mouth, Carious teeth, Trismus, E... |
OMIM:272430 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... |
OMIM:210720 |
Opsismodysplasia |
|
Short metacarpal, Anterior rib cupping, Short neck, Hypoplasia of the odontoid process, Squared i... |
OMIM:258480 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flat glenoid fos... |
OMIM:224690 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Short stature, Pseudoepiphyses of the metacarpals, Coxa val... |
OMIM:618150 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Skin ulcer, Anemia, Pallor, Thrombocytopenia |
ORPHA:848 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Hypoplasia of the maxilla, Narro... |
ORPHA:2588 |
Acrorenal-Mandibular Syndrome |
|
Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplasia of the ulna, Split hand, Split... |
OMIM:200980 |
Kagami-Ogata Syndrome |
|
Long clavicles, Kyphoscoliosis, Coxa valga, Micrognathia, Long fingers, Hypoplasia of the maxilla... |
OMIM:608149 |
Cartilage-Hair Hypoplasia |
|
Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pectus carinatum... |
ORPHA:175 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Aganglionic megacolon, Absent pubertal growth spurt,... |
OMIM:250250 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Abnormality of the dentition, Pectus excavatum, Carious tee... |
ORPHA:1786 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Vertebral fusion, Short distal phalanx of the thumb, Odontogenic keratocys... |
OMIM:109400 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Decreased distal sensory nerve action potential, Kyphoscoliosis, Tremor, Inability to walk, Optic... |
ORPHA:99956 |
Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis |
OMIM:252900 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Micrognathia, Missing ribs, Abnormal rib morphology, Orofacial cle... |
ORPHA:3301 |
Schwartz-Jampel Syndrome |
|
Short neck, Micrognathia, Coxa vara, Pectus carinatum, High palate, Wrist flexion contracture, Pu... |
ORPHA:800 |
Bare Lymphocyte Syndrome, Type I |
|
Skin ulcer |
OMIM:604571 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pyoderma gangrenosum, Elbow flexion contracture, Sterile arthritis, Knee flexion contracture, Art... |
OMIM:604416 |
Chilblain Lupus |
|
Finger swelling, Skin ulcer |
ORPHA:90280 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... |
ORPHA:2970 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Short neck, Micrognathia, Patellar aplasia, Abnormal rib morphology, Cle... |
ORPHA:96061 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulder flexion contracture,... |
OMIM:620369 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Irregular, rachitic-l... |
ORPHA:289157 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Mild short stature, Short stature, Optic nerve hypoplasia, Thin ribs |
OMIM:614833 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Overlapping toe, Exaggerated cupid's bow, Pectus excavatum, Retrognathia, Macroglossia,... |
ORPHA:254528 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Skin ulcer |
ORPHA:312 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Everted lower lip vermilion, Beaki... |
OMIM:252930 |
Familial Multiple Nevi Flammei |
|
Skin ulcer, Scoliosis, Abnormal cranial nerve morphology |
ORPHA:624 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254534 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Ectopi... |
ORPHA:2919 |
Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Metaphyseal wide... |
OMIM:182212 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Carious teeth, Kyphosis, Joint contracture of the 5th fi... |
ORPHA:1883 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Short neck, Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contractur... |
OMIM:601559 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Lateral clavicle hook, Early ossification of capital femoral epiphyses, C... |
OMIM:208500 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Anterior wedging of L... |
OMIM:253200 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Camptodactyly of finger, Kyphosis, Narrow mouth, Rib fusion, Spinal canal steno... |
ORPHA:1606 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Skin ulcer |
ORPHA:217390 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Hamartoma of tongue, Lateral clavicle hook, Preaxial hand polydactyly, Postaxia... |
OMIM:263520 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Bifid uvula, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Accessory or... |
ORPHA:672 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Ovoid thoracolumbar vertebrae |
OMIM:252920 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Acral ulceration |
OMIM:613115 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Micrognathia, Abnormal rib morphology, Abnormal form of the vertebral bod... |
ORPHA:52 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm... |
ORPHA:249 |
Trisomy 1Q |
|
Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydac... |
ORPHA:261344 |
Osteogenesis Imperfecta, Type Vii |
|
Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Protrusio acetabuli, Femoral r... |
OMIM:610682 |
Cutis Laxa, Autosomal Dominant 3 |
|
Os odontoideum, Dermal translucency, Postnatal growth retardation, Hip dislocation, Cutis laxa, W... |
OMIM:616603 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... |
OMIM:609945 |
Gracile Bone Dysplasia |
|
Flared metaphysis, Thin ribs, Slender long bone, Ankyloglossia, Brachydactyly |
OMIM:602361 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hemophagocytosis, Skin ulcer, Hepatosplenomegaly |
ORPHA:86884 |
Prolidase Deficiency |
|
Abnormal fingernail morphology, Splenomegaly, Erythema, Low anterior hairline, Skin ulcer, White ... |
ORPHA:742 |
Shwachman-Diamond Syndrome 1 |
|
Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal sclerosis, Enlargement of the costochon... |
OMIM:260400 |
Occipital Horn Syndrome |
|
Short humerus, Persistent open anterior fontanelle, Orthostatic hypotension, Redundant skin, Pelv... |
OMIM:304150 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Spinal ... |
ORPHA:231222 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Skin ulcer, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:47 |
Brooke-Spiegler Syndrome |
|
Skin appendage neoplasm, Trichoepithelioma, Cylindroma, Skin ulcer |
ORPHA:79493 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Arthropathy, Low back pain, Osteoarthritis, Hand tremor, Acral ulceration, Septic arthritis |
OMIM:608654 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Absent thumb, Hypoplasia of the maxilla, Sa... |
ORPHA:500150 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Sparse hair |
ORPHA:659 |
Familial Keratoacanthoma |
|
Skin ulcer |
ORPHA:493 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Cleft uppe... |
OMIM:607872 |
Prolidase Deficiency |
|
Petechiae, Thrombocytopenia, Splenomegaly, Skin ulcer, Low posterior hairline, Facial hirsutism, ... |
OMIM:170100 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Postaxial polydactyly, Short neck, Lateral clavicle hook, Micrognathia, Hamartoma of... |
OMIM:617925 |
Campomelic Dysplasia |
|
Irregular dentition, Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia,... |
OMIM:114290 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Short neck, Pectus excavatum, Kyph... |
ORPHA:77301 |
Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Wide cranial sutures, Broad long bones, Dental crowding, Fifth finger ... |
OMIM:257850 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... |
OMIM:606895 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pyoderma gangrenosum, Acute lymphoblastic ... |
ORPHA:486 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Brachydactyly, Micrognathia, Hypoplasia of the maxilla, Hyperextensibi... |
OMIM:601812 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Aplastic clavicle, Micrognathia, Hypoplasia of the maxilla, High, narrow... |
ORPHA:2554 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Short neck, Kyphosis, Gingival overgrowth, Hypoplastic vertebral bodies, Scoliosi... |
OMIM:230500 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Joint swelling, Fused cervical vertebrae, Flaring of rib cage, Stomatitis, Broad ribs |
OMIM:612852 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, H... |
OMIM:234100 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli... |
OMIM:300373 |
Myotubular Myopathy With Abnormal Genital Development |
|
Retrognathia, High palate, Thin ribs |
OMIM:300219 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Short stature, Camptodactyly of finger, Short neck, Abnormality of ... |
ORPHA:93473 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Cervical kyphosis, Micrognathia, Abnormal tibia morphology, Osteoart... |
ORPHA:666 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Denta... |
OMIM:615560 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Acral ulc... |
OMIM:162400 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Delayed closure of the anterior fontanelle, ... |
OMIM:607812 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Fla... |
ORPHA:79255 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Erythema, Skin ulcer, Ridged fing... |
ORPHA:37 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Carious teeth, Platyspondyly, Scoliosis, Femoral bowing |
OMIM:126550 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Short neck, Abnormal rib morphology, Small hand, Retrognathia, Short foot, Spina bifida occulta, ... |
ORPHA:488434 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Bell-shaped thorax, Horizontal ribs, Micrognathia |
OMIM:614857 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Hypoplastic scapulae, Median cleft lip, Median cleft lip and palate, Hamartoma of to... |
OMIM:269860 |
Lethal Congenital Contracture Syndrome 5 |
|
Thin ribs |
OMIM:615368 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d... |
ORPHA:2907 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial hand polydactyly, Sup... |
OMIM:617088 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, High palate, Apla... |
OMIM:276820 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Wide cranial sutures, Dental crowding, Limited elbow movement, Micrognathia, D... |
OMIM:614008 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Hypoplasia of the maxilla, Spinal canal stenosis, Narrow palate, Scoliosis,... |
OMIM:277600 |
Pyoderma Gangrenosum |
|
Skin vesicle, Skin ulcer |
ORPHA:48104 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee... |
OMIM:151050 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Genu varum |
OMIM:613312 |
Incontinentia Pigmenti |
|
Finger syndactyly, Short stature, Camptodactyly of finger, Erythema, Absent hand, Skin ulcer, Dev... |
ORPHA:464 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Arachnodactyly, Pectus excavatum, Thin metatarsal cortices, Thin ribs, Slender long bone, Broad p... |
ORPHA:2463 |
Polyarteritis Nodosa |
|
Erythema, Skin ulcer |
ORPHA:767 |
Vacterl/Vater Association |
|
Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial hand polydactyly, Abnormal s... |
ORPHA:887 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Short neck, Micrognathia, Hypoplasia of the ma... |
ORPHA:96334 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia, Abnormal hair morphology, Paronychia, Skin ulcer, Skin vesicle, Dystrophic fingernails |
ORPHA:2314 |
Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
Attenuated Chédiak-Higashi Syndrome |
|
Skin ulcer |
ORPHA:352723 |
Hyperparathyroidism, Transient Neonatal |
|
Wide cranial sutures, Short femur, Metaphyseal spurs, Undulate ribs, Thin ribs, Femoral bowing, S... |
OMIM:618188 |
Papa Syndrome |
|
Arthritis, Skin ulcer |
ORPHA:69126 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Sparse hair, Abnormal fingernail morphology, Skin ulcer, Fine hair |
ORPHA:1806 |
Infantile Systemic Hyalinosis |
|
Severe short stature, Camptodactyly of finger, Short neck, Skin ulcer, Growth delay, Short palm, ... |
ORPHA:2176 |
Werner Syndrome |
|
Short stature, Rocker bottom foot, Abnormal thorax morphology, Small hand, Lack of skin elasticit... |
ORPHA:902 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Decreased motor nerve conduction velocity, Skin ulcer |
OMIM:613640 |
Severe Congenital Nemaline Myopathy |
|
Abnormal thorax morphology, Adducted thumb, Thin ribs |
ORPHA:171430 |
Takayasu Arteritis |
|
Arthritis, Skin ulcer |
ORPHA:3287 |
Acute Radiation Syndrome |
|
Skin ulcer, Scaling skin, Granulocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:454831 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424019 |
Craniorachischisis |
|
Bifid sternum |
ORPHA:63260 |
Calciphylaxis |
|
Skin ulcer |
ORPHA:280062 |
Hereditary Spherocytosis |
|
Ataxia, Skin ulcer, Gout, Growth delay, Pallor |
ORPHA:822 |
Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Thick lowe... |
OMIM:252940 |
Aspergillosis |
|
Abnormal long bone morphology, Sinusitis, Abnormality of the vertebral column, Abnormal rib morph... |
ORPHA:1163 |
Kagami-Ogata Syndrome |
|
Pursed lips, Kyphoscoliosis, Short neck, Coxa valga, Micrognathia, Bell-shaped thorax, Broad phil... |
ORPHA:254519 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... |
ORPHA:2751 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Spastic gait, Acral ulceration, Decreased amplitude of... |
OMIM:256840 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Short neck, Micrognathia, Humeroradial synostosis, Abnormal rib ... |
ORPHA:3404 |
Cryoglobulinemic Vasculitis |
|
Arthritis, Petechiae, Skin ulcer, Purpura |
ORPHA:91138 |
Hajdu-Cheney Syndrome |
|
Coarse metaphyseal trabecularization, Brachydactyly, Short stature, Bowing of the long bones, Sho... |
ORPHA:955 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Micrognathia, Cleft lip, Cleft palate, Posterior rib fusion, Retrognathia, Butterfly vertebrae |
OMIM:265380 |
Scarf Syndrome |
|
Barrel-shaped chest, Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Cutis l... |
OMIM:312830 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Pectus carinatum, High palate, Wi... |
OMIM:303600 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Abnormality of neutrophils... |
ORPHA:1775 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Short stature, Optic neuropathy, Increased intervertebral space, Broad isc... |
OMIM:619727 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Short stature, Striae distensae, Proportionate short stat... |
OMIM:608328 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Femoral bowing, Narrow chest, Abnormality of the wrist, Abnormal vertebral m... |
ORPHA:95699 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, A... |
ORPHA:534 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Premature loss of ... |
ORPHA:2908 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Postnatal g... |
OMIM:269150 |
Chronic Mucocutaneous Candidiasis |
|
Abnormal fingernail morphology, Erythema, Broad nail, Skin ulcer, Abnormal toenail morphology, Ab... |
ORPHA:1334 |
Monosomy 9P |
|
Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Micrognathia, Postaxial... |
ORPHA:261112 |
Autosomal Recessive Malignant Osteopetrosis |
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Bowing of the long bones, Craniosynostosis, Tremor, Abnormal rib morphology, Growth delay, Narrow... |
ORPHA:667 |
Smith-Lemli-Opitz Syndrome |
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Proximal placement of thumb, Short neck, Micrognathia, Abnormal form of the vertebral bodies, Adv... |
ORPHA:818 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
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Decreased nerve conduction velocity, Osteolytic defects of the phalanges of the hand, Foot acroos... |
OMIM:201300 |
Myhre Syndrome |
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Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w... |
OMIM:139210 |
Primary Lateral Sclerosis |
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Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... |
ORPHA:35689 |
Autosomal Dominant Centronuclear Myopathy |
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Thin ribs |
ORPHA:169189 |
Cerebrocostomandibular Syndrome |
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Micrognathia, Kyphosis, Posterior rib gap, Cleft palate, Bell-shaped thorax, Glossoptosis, Clinod... |
ORPHA:1393 |
Branchioskeletogenital Syndrome |
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Mandibular prognathia, Short neck, Upper limb peromelia, Hypoplasia of the maxilla, Downturned co... |
ORPHA:1299 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
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Skin ulcer |
OMIM:245660 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Tapered finger, Hyperlordosis, Cleft lip, Limited elbow extension, Hip dislocation, Cleft palate,... |
OMIM:301066 |
Blau Syndrome |
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Camptodactyly of finger, Synovitis, Skin ulcer, Arthritis, Joint swelling, Flexion contracture of... |
OMIM:186580 |
Neutrophilic Dermatosis, Acute Febrile |
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Erythema, Pyoderma gangrenosum |
OMIM:608068 |
Dominant Beta-Thalassemia |
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Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Diffuse Cutaneous Systemic Sclerosis |
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Arthritis, Narrow foramen obturatorium, Skin ulcer |
ORPHA:220393 |
Chime Syndrome |
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Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Erythema, Cl... |
ORPHA:3474 |
Dextrocardia |
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Congenital hip dislocation, Abnormal rib morphology |
ORPHA:1666 |
Simpson-Golabi-Behmel Syndrome |
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Mandibular prognathia, Congenital hip dislocation, Short neck, High, narrow palate, Vertebral seg... |
ORPHA:373 |
Acquired Purpura Fulminans |
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Pyoderma gangrenosum, Thrombocytopenia, Macular purpura |
ORPHA:49566 |
Beta-Thalassemia Major |
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Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Pseudo-Torch Syndrome 2 |
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Thin ribs |
OMIM:617397 |
Waardenburg Syndrome, Type 1 |
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Mandibular prognathia, Orofacial cleft, Supernumerary ribs, Supernumerary vertebrae, Sprengel ano... |
OMIM:193500 |
Cranioectodermal Dysplasia 2 |
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Short neck, Micrognathia, Fused teeth, High palate, Narrow chest, Widely spaced teeth, Microdonti... |
OMIM:613610 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Sandal gap, Delayed cranial suture closure, Decreased fibular diameter, Pectus excavatum, Microgn... |
OMIM:619127 |
Giant Cell Arteritis |
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Arthritis, Skin ulcer, Optic atrophy, Ataxia |
ORPHA:397 |
Livedoid Vasculopathy |
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Enlargement of the ankles, Abnormality of the peripheral nervous system, Skin ulcer, Macular purp... |
ORPHA:542643 |
Trisomy 18 |
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Microretrognathia, Camptodactyly of finger, Postaxial hand polydactyly, Non-midline cleft lip, Ab... |
ORPHA:3380 |
Reynolds Syndrome |
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Arthritis, Skin ulcer |
ORPHA:779 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Hallux valgus, Papilledema, Broad-based gait, Pectus excavatum, Limb ataxia, Skin ulcer, Growth d... |
ORPHA:2072 |
Chronic Granulomatous Disease |
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Splenomegaly, Liver abscess, Skin ulcer, Abnormality of neutrophils |
ORPHA:379 |
Otopalatodigital Syndrome, Type Ii |
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Congenital hip dislocation, Short neck, Short metatarsal, Femoral bowing, Tibial bowing, Narrow c... |
OMIM:304120 |
Vater/Vacterl Association |
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Syndactyly, Postnatal growth retardation, Short thumb, Absent radius, Hypoplasia of the radius, A... |
OMIM:192350 |
Alpha-Mannosidosis, Infantile Form |
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Mandibular prognathia, Thickened ribs, Craniosynostosis, Short neck, Pectus excavatum, Pectus car... |
ORPHA:309282 |
Fusariosis |
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Brain abscess, Lung abscess, Abnormality of the spleen, Paronychia, Skin ulcer, Granuloma, Neutro... |
ORPHA:228119 |
Yunis-Varon Syndrome |
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Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Hi... |
ORPHA:3472 |
Fetal Akinesia Deformation Sequence 1 |
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Hip contracture, Rocker bottom foot, Camptodactyly of finger, Short neck, Micrognathia, High, nar... |
OMIM:208150 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
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Amyotrophic lateral sclerosis, Abnormal motor neuron morphology |
ORPHA:52430 |
Microscopic Polyangiitis |
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Arthritis, Erythema, Skin ulcer |
ORPHA:727 |
Mucopolysaccharidosis Type 3 |
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Abnormal clavicle morphology, Ataxia, Avascular necrosis of the capital femoral epiphysis, Abnorm... |
ORPHA:581 |
Wiskott-Aldrich Syndrome |
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Hemolytic anemia, Abnormal eosinophil morphology, Petechiae, Microcytic anemia, Thrombocytopenia,... |
ORPHA:906 |
Schinzel-Giedion Syndrome |
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Abnormal clavicle morphology, Short neck, Micrognathia, Abnormality of the gingiva, Tibial bowing... |
ORPHA:798 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
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Joint dislocation, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Kyphoscoliosi... |
OMIM:225400 |
Sweet Syndrome |
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Acute myeloid leukemia, Neutrophilia, Leukocytosis, Pyoderma gangrenosum, Chronic lymphatic leuke... |
ORPHA:3243 |
Osteopetrosis With Renal Tubular Acidosis |
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Micrognathia, Pectus excavatum, Persistence of primary teeth, Abnormality of the dentition, Thick... |
ORPHA:2785 |
Catastrophic Antiphospholipid Syndrome |
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Coombs-positive hemolytic anemia, Skin ulcer, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:464343 |
Fryns Syndrome |
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Microretrognathia, Tented upper lip vermilion, Rocker bottom foot, Proximal placement of thumb, S... |
OMIM:229850 |
Parkes Weber Syndrome |
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Myelopathy, Skin ulcer, Dural ectasia, Spinal arteriovenous malformation, Scaling skin, Conus ter... |
ORPHA:90307 |
Osteopetrosis, Autosomal Recessive 7 |
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Multiple rib fractures, Femur fracture, Optic atrophy, Growth delay, Optic nerve compression |
OMIM:612301 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Acral ulceration, Postural hypotension with compensatory tachycardia, Neuropathic arthropathy, Ab... |
OMIM:256800 |
Juvenile Dermatomyositis |
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Alopecia, Dry skin, Erythema, Skin ulcer |
ORPHA:93672 |
Aspartylglucosaminuria |
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Mandibular prognathia, Abnormal morphology of ulna, Abnormality of the dentition, Carious teeth, ... |
ORPHA:93 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Leukonychia, Skin ulcer, Sca... |
ORPHA:2526 |
Immunoglobulin A Vasculitis |
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Erythema, Optic atrophy, Skin ulcer, Arthritis, Purpura |
ORPHA:761 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
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Narcolepsy |
OMIM:604121 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Pancytopenia, Splenomegaly, Leukocytosis, Skin ulcer, Hepatosplenomegaly, Leukopenia, Thrombocyto... |
OMIM:615688 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Long clavicles, Arachnodactyly, Overlapping toe, Micrognathia, Contracture of the distal interpha... |
ORPHA:83617 |
Leukocyte Adhesion Deficiency, Type I |
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Leukocytosis, Rectal abscess, Skin ulcer |
OMIM:116920 |
Meige Disease |
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Skin ulcer |
ORPHA:90186 |
Atypical Werner Syndrome |
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Short palm, Short stature, Rocker bottom foot, Abnormal thorax morphology, Lack of skin elasticit... |
ORPHA:79474 |
Blau Syndrome |
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Facial palsy, Camptodactyly of finger, Erythema, Synovitis, Skin ulcer, Joint swelling, Polyartic... |
ORPHA:90340 |
Charge Syndrome |
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Short stature, Facial palsy, Postnatal growth retardation, Abnormal tibia morphology, Abnormal ri... |
ORPHA:138 |
Toxic Epidermal Necrolysis |
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Erythema, Skin ulcer, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:537 |
Granulomatosis With Polyangiitis |
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Granulomatosis, Skin ulcer |
OMIM:608710 |
Cushing Disease |
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Sparse scalp hair, Striae distensae, Leukocytosis, Skin ulcer, Decreased eosinophil count, Ecchym... |
ORPHA:96253 |
Pagod Syndrome |
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Abnormal clavicle morphology, Optic atrophy, Abnormal rib morphology, Short stature |
ORPHA:991 |
Wiedemann-Rautenstrauch Syndrome |
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Short neck, Micrognathia, Downturned corners of mouth, Narrow chest, Genu varum, Long toe, Scolio... |
OMIM:264090 |
Primary Sjögren Syndrome |
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Normocytic anemia, Abnormal spinal cord morphology, Skin ulcer, Dry skin, Leukopenia, Normochromi... |
ORPHA:289390 |
Systemic Sclerosis |
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Abnormal phalangeal joint morphology of the hand, Osteolytic defects of the phalanges of the hand... |
ORPHA:90291 |
Restrictive Dermopathy |
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Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Natal tooth, Camptodactyly of finge... |
ORPHA:1662 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Hair-pulling, Synophrys |
ORPHA:447997 |
Enamel-Renal Syndrome |
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Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
Dermatomyositis |
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Abnormal hair quantity, Abnormal eosinophil morphology, Erythema, Skin ulcer, Dry skin, Abnormali... |
ORPHA:221 |
Mucopolysaccharidosis Type 2, Severe Form |
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Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Diaphyseal thickening, Tempo... |
ORPHA:217085 |
Amoebiasis Due To Free-Living Amoebae |
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Abnormal spinal cord morphology, Granuloma, Increased red blood cell count, Skin ulcer |
ORPHA:68 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
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Broad-based gait, Short stature, Ataxia, Growth delay, Acral ulceration, Dystonia, Loss of ambula... |
OMIM:256810 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Diaphyseal thickening, Tempo... |
ORPHA:217093 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
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Hair-pulling |
OMIM:616393 |
Split Cord Malformation |
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Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Hemi... |
ORPHA:573278 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
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Narcolepsy |
ORPHA:314404 |
Leprosy |
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Absent eyebrow, Alopecia, Abnormality of the spleen, Loss of eyelashes, Penetrating foot ulcers, ... |
ORPHA:548 |
Monosomy 22Q13.3 |
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Hypoplastic toenails, Hair-pulling, Long eyelashes, Thick eyebrow |
ORPHA:48652 |
Alagille Syndrome 1 |
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Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch, Short d... |
OMIM:118450 |
Adenocarcinoma Of The Anal Canal |
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Skin ulcer |
ORPHA:424016 |
Townes-Brocks Syndrome |
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Broad hallux phalanx, Toe clinodactyly, Toe syndactyly, Short stature, Preaxial hand polydactyly,... |
ORPHA:857 |
Granulomatosis With Polyangiitis |
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Granulomatosis, Skin ulcer, Purpura |
ORPHA:900 |
Chronic Graft Versus Host Disease |
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Alopecia, Pancytopenia, Erythema, Skin ulcer, Onycholysis, Nail dystrophy, Skin vesicle |
ORPHA:99921 |
Malakoplakia |
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Skin ulcer |
ORPHA:556 |
Plague |
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Unsteady gait, Abnormality of the elbow, Skin ulcer, Arthritis, Dry skin |
ORPHA:707 |
Charge Syndrome |
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Hypoplasia of the ulna, Down-sloping shoulders, Facial palsy, Postnatal growth retardation, Absen... |
OMIM:214800 |
Coccidioidomycosis |
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Abnormal long bone morphology, Arthritis, Abnormality of the vertebral column, Abnormal metacarpa... |
ORPHA:228123 |
Simple Cryoglobulinemia |
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Arthritis, Acral ulceration, Purpura |
ORPHA:91139 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Sparse scalp hair, Striae distensae, Leukocytosis, Skin ulcer, Decreased eosinophil count, Ecchym... |
ORPHA:99889 |
Choreoacanthocytosis |
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Splenomegaly, Hair-pulling, Abnormal erythrocyte enzyme level, Acanthocytosis |
ORPHA:2388 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Narcolepsy |
ORPHA:293987 |
Niemann-Pick Disease Type C |
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Narcolepsy |
ORPHA:646 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Trichiasis, Skin ulcer, Nail dystrophy, Neutropenia, Anonychia, Anemia |
ORPHA:95455 |
African Trypanosomiasis |
|
Narcolepsy, Alopecia |
ORPHA:3385 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Hair-pulling |
OMIM:620330 |
Leukocyte Adhesion Deficiency |
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Acute myeloid leukemia, Perianal abscess, Leukocytosis, Pyoderma gangrenosum, Nail dystrophy, Abn... |
ORPHA:2968 |