Hall-Riggs Mental Retardation Syndrome |
|
Irregular vertebral endplates, Failure to thrive, Metaphyseal dysplasia, Kyphosis, Hypoplasia of ... |
OMIM:234250 |
Pyle Disease |
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Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios... |
OMIM:265900 |
Scheuermann Disease |
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Kyphosis, Osteochondrosis, Morbus Scheuermann |
OMIM:181440 |
Desbuquois Dysplasia 1 |
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Radial deviation of the 2nd finger, Short 1st metacarpal, Depressed nasal bridge, Monkey wrench f... |
OMIM:251450 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
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High palate, Cleft palate, Carious teeth, Genu valgum, Small epiphyses, Short long bone, Advanced... |
OMIM:618363 |
Pseudoachondroplasia |
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Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
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Severe short stature, Flexion contracture, Generalized hypoplasia of dental enamel, Severe postna... |
OMIM:203550 |
Endosteal Hyperostosis, Worth Type |
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Craniofacial hyperostosis, Torus palatinus, Clavicular sclerosis, Abnormal form of the vertebral ... |
ORPHA:2790 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
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Epiphyseal dysplasia, Cleft palate, Malar flattening, Pierre-Robin sequence, Depressed nasal brid... |
OMIM:184840 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
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Kyphosis, Malar flattening, Joint subluxation, Osteopenia, Scoliosis, Congenital bilateral hip di... |
OMIM:130060 |
Membranous Cranial Ossification, Delayed |
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Downslanted palpebral fissures, Depressed nasal bridge, Hypertelorism |
OMIM:155980 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
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High palate, Osteopenia, Depressed nasal bridge, Platyspondyly, Delayed eruption of teeth, Tapere... |
OMIM:612350 |
Epiphyseal Dysplasia, Multiple, 1 |
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Irregular vertebral endplates, Epiphyseal dysplasia, Delayed epiphyseal ossification, Joint stiff... |
OMIM:132400 |
Otospondylomegaepiphyseal Dysplasia |
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Enlarged joints, Cleft palate, Abnormally ossified vertebrae, Depressed nasal bridge, Short neck,... |
ORPHA:1427 |
Familial Intestinal Malrotation |
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Anteverted nares, Depressed nasal bridge, Long palpebral fissure, Hypertelorism |
ORPHA:508410 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
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Hypodontia, Short stature, Short 1st metacarpal, Delayed eruption of teeth, Hip osteoarthritis, S... |
ORPHA:63442 |
Alpha-Mannosidosis |
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Dental malocclusion, Kyphosis, Gingival overgrowth, Narrow palate, Macroglossia, Open bite, Ingui... |
ORPHA:61 |
Pycnodysostosis |
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High palate, Abnormality of the dentition, Carious teeth, Rhizomelia, Hypoplasia of the maxilla, ... |
ORPHA:763 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
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Irregular vertebral endplates, Metaphyseal irregularity, Widely-spaced incisors, Slender finger, ... |
OMIM:601668 |
Brachydactylous Dwarfism, Mseleni Type |
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Short toe, Severe short stature, Joint subluxation, Osteoarthritis of the elbow, Osteopenia, Plat... |
ORPHA:2619 |
Hip Dysplasia, Beukes Type |
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Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphosis, Abnormal bone ossification... |
ORPHA:2114 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
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Thickened ribs, Cortical sclerosis, Diaphyseal sclerosis, Short stature, Depressed nasal bridge, ... |
OMIM:122860 |
Craniometadiaphyseal Dysplasia |
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High palate, Osteopenia, Microdontia, Carious teeth, Genu valgum, Broad ribs, Mandibular prognath... |
OMIM:269300 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Femoral bowing, Delayed eruption of teeth, Thin bony cortex, Bulging of the costochondral junctio... |
OMIM:264700 |
Vitamin D-Dependent Rickets, Type 2A |
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Femoral bowing, Delayed eruption of teeth, Carious teeth, Thin bony cortex, Bulging of the costoc... |
OMIM:277440 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
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Enlarged joints, Bulbous nose, Cleft palate, Platyspondyly, Premature osteoarthritis, Large tarsa... |
OMIM:215150 |
Larsen-Like Syndrome |
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Dental malocclusion, Wide anterior fontanel, Clinodactyly of the 5th finger, Kyphoscoliosis, Join... |
OMIM:608545 |
Epiphyseal Dysplasia, Multiple, 2 |
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Epiphyseal dysplasia, Tooth agenesis, Irregular epiphyses, Flattened epiphysis, Genu varum, Midfa... |
OMIM:600204 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
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Platyspondyly, Arthralgia of the hip, Disproportionate short-trunk short stature, Hip subluxation... |
ORPHA:99642 |
Pseudopseudohypoparathyroidism |
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Short stature, Depressed nasal bridge, Short neck, Brachydactyly, Delayed eruption of teeth, Oste... |
OMIM:612463 |
Osteogenesis Imperfecta, Type Iii |
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Kyphosis, Tibial bowing, Wide anterior fontanel, Dentinogenesis imperfecta, Recurrent fractures, ... |
OMIM:259420 |
Maxillonasal Dysplasia, Binder Type |
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Short distal phalanx of finger, Dental malocclusion, Vertebral clefting, Depressed nasal bridge, ... |
OMIM:155050 |
Pseudoachondroplasia |
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Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
Bifid Nose |
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Hypertelorism, Bifid nose |
ORPHA:2695 |
Albers-Schönberg Osteopetrosis |
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Short distal phalanx of finger, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Joi... |
ORPHA:53 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Depressed nasal bridge, Short nose, Mandibular prognathia, Intrauterine growth retar... |
ORPHA:1327 |
Spondyloepiphyseal Dysplasia Tarda |
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Abnormally ossified vertebrae, Short neck, Platyspondyly, Biconcave vertebral bodies, Arthralgia ... |
ORPHA:93284 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Failure to thrive, Epiphyseal dysplasia, Metaphyseal dysplasia, Kyphoscoliosis, Malar flattening,... |
OMIM:614727 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Mandibular osteomyelitis, Abnormal number of teeth, Abnormal cementum morpho... |
ORPHA:83451 |
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
High palate, Kyphoscoliosis, Bulbous nose, Malar flattening, Depressed nasal bridge, Brachydactyl... |
OMIM:600991 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Delayed eruption of teeth, Microdontia, Carious teeth, Coxa magna, Chin with horizont... |
OMIM:190350 |
Dysspondyloenchondromatosis |
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Vertebral segmentation defect, Enlarged joints, Kyphoscoliosis, Joint dislocation, Generalized jo... |
ORPHA:85198 |
Three M Syndrome 1 |
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Depressed nasal bridge, Short neck, Hypoplastic pelvis, Mandibular prognathia, Intrauterine growt... |
OMIM:273750 |
Multiple Epiphyseal Dysplasia, Beighton Type |
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Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Intervertebral space narrowing, D... |
ORPHA:166011 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
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Femoral bowing, Platyspondyly, Severe platyspondyly, Rhizomelia, Ovoid vertebral bodies, Metaphys... |
OMIM:608940 |
Multiple Epiphyseal Dysplasia Type 1 |
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Delayed epiphyseal ossification, Coxa vara, Joint stiffness, Limitation of joint mobility, Finger... |
ORPHA:93308 |
Maxillonasal Dysplasia |
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Short distal phalanx of finger, Tooth agenesis, Cleft palate, Vertebral clefting, Open bite, Depr... |
ORPHA:1248 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Slender finger, Cleft palate, Depressed nasal bridge, Short neck, Platyspondyly, Ani... |
ORPHA:163649 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
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Cleft palate, Long nose, 11 pairs of ribs, Intrauterine growth retardation, Short long bone, Shor... |
OMIM:619184 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Irregular vertebral endplates, Intervertebral disk calcification, Flat capital femoral epiphysis,... |
OMIM:614135 |
Stickler Syndrome Type 1 |
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Cleft palate, Osteoarthritis, Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis mo... |
ORPHA:90653 |
Frank-Ter Haar Syndrome |
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Wide mouth, Depressed nasal bridge, Short philtrum, Delayed eruption of teeth, Osteolysis, Umbili... |
ORPHA:137834 |
Three M Syndrome 2 |
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High palate, Depressed nasal bridge, Short neck, Delayed eruption of teeth, Intrauterine growth r... |
OMIM:612921 |
Cleidocranial Dysplasia |
|
Cleft palate, Abnormality of the dentition, Depressed nasal bridge, Down-sloping shoulders, Delay... |
ORPHA:1452 |
Mulibrey Nanism |
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Dental crowding, Dental malocclusion, Hypodontia, Short stature, Dolichocephaly, Depressed nasal ... |
OMIM:253250 |
Mueller-Weiss Syndrome |
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Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Joint subluxation, Fra... |
ORPHA:566943 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal s... |
OMIM:144750 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Short distal phalanx of finger, Dental malocclusion, Kyphosis, Short stature, Abnormality of the ... |
ORPHA:1858 |
Laron Syndrome |
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Short toe, Tooth agenesis, Severe short stature, Aplasia/Hypoplasia involving the nose, Depressed... |
ORPHA:633 |
Parastremmatic Dwarfism |
|
Kyphosis, Severe short stature, Short neck, Scoliosis, Genu valgum |
OMIM:168400 |
Acrodysostosis |
|
Depressed nasal ridge, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped epiphysis, D... |
ORPHA:950 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Disproportionate short-trunk short stature... |
ORPHA:93314 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Premature loss of teeth, Metaphyseal dysplasia, Convex nasal ridge, Short stature, Thin vermilion... |
OMIM:156510 |
Atkin-Flaitz Syndrome |
|
Kyphosis, Maxillary lateral incisor microdontia, Genu recurvatum, Prominent median palatal raphe,... |
OMIM:300431 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Cone-shaped epiphysis, Abnormality of the pubic bone, Shagreen patch, Mandibular prognathia, Abno... |
ORPHA:2511 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Disproportionate short-limb short stature, Abnormal joint morphology, Limitation of jo... |
ORPHA:93351 |
Frontofacionasal Dysplasia |
|
Depressed nasal ridge, Absent inner eyelashes, Dimple on nasal tip, Depressed nasal bridge, Aplas... |
ORPHA:1791 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Femoral bowing, Delayed eruption of teeth, Thin bony cortex, Subperiosteal bone resorption, Osteo... |
ORPHA:289157 |
Cleidocranial Dysplasia 1 |
|
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Depressed nasal br... |
OMIM:119600 |
Clark-Baraitser syndrome |
|
Kyphosis, Maxillary lateral incisor microdontia, Genu recurvatum, Prominent median palatal raphe,... |
OMIM:300602 |
Craniosynostosis 3 |
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Dental malocclusion, Brachydactyly, Sagittal craniosynostosis, Hallux valgus, Left unicoronal syn... |
OMIM:615314 |
Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Wide mouth, Anterior beaking of lumbar vertebr... |
OMIM:253000 |
Progressive Pseudorheumatoid Dysplasia |
|
Coxa vara, Kyphoscoliosis, Joint swelling, Joint stiffness, Enlarged metacarpophalangeal joints, ... |
OMIM:208230 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
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Lumbar hyperlordosis, Short stature, Depressed nasal bridge, Osteoarthritis, Brachydactyly, Broad... |
OMIM:165800 |
Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Wide mouth, Platyspondyly, Carious teeth, Disp... |
OMIM:253010 |
Pde4D Haploinsufficiency Syndrome |
|
Broad phalanx, Depressed nasal bridge, Cone-shaped epiphysis, Short philtrum, Upper limb undergro... |
ORPHA:439822 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Cone-shaped epiphyses of the phalanges of the hand, Mild postnatal growth retardation, Calvarial ... |
OMIM:101800 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Fragmented epiphyses, Slender finger, Platyspondyly, Genu valgum, Abnormality of the curvature of... |
ORPHA:93360 |
Odontochondrodysplasia |
|
Dentinogenesis imperfecta, Short stature, Retrognathia, Depressed nasal bridge, Cone-shaped epiph... |
ORPHA:166272 |
Cranioectodermal Dysplasia |
|
Short distal phalanx of finger, Abnormal dental enamel morphology, Clinodactyly of the 5th finger... |
ORPHA:1515 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Dentinogenesis imperfecta, Short stature, Cone-shaped epiphysis, Platyspondyly, Short philtrum, D... |
ORPHA:71267 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... |
OMIM:607078 |
Epiphyseal Dysplasia, Multiple, 3 |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Osteoarthritis, Irregular epiphyses, Abnor... |
OMIM:600969 |
Mcdonough Syndrome |
|
Dental malocclusion, Kyphosis, Open bite, Short stature, Micrognathia, Cachexia, Short philtrum, ... |
ORPHA:2471 |
Regional Odontodysplasia |
|
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... |
ORPHA:83450 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Reduced bone mineral density, Abnormality of the dentition, Scoliosis, Gen... |
ORPHA:2501 |
Seckel Syndrome 1 |
|
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, 11 pairs of ribs, ... |
OMIM:210600 |
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Convex nasal ridge, Cleft ala nasi, Telecanthus, Hypertelorism, Underdeveloped nasal alae, Wide n... |
ORPHA:2007 |
Stickler Syndrome, Type I |
|
Cleft palate, Depressed nasal bridge, Platyspondyly, Midface retrusion, Joint stiffness, Spondylo... |
OMIM:108300 |
Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Delayed eruption of teeth, Sma... |
OMIM:184260 |
Hypochondroplasia |
|
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Childhood onset short-limb sho... |
ORPHA:429 |
48,Xyyy Syndrome |
|
High palate, Dislocated radial head, Irregularly spaced teeth, Depressed nasal bridge, Recurrent ... |
ORPHA:99329 |
Dysostosis, Stanescu Type |
|
Abnormality of the dentition, Short neck, Carious teeth, Abnormal epiphysis morphology, Hypoplasi... |
ORPHA:1798 |
Intermediate Osteopetrosis |
|
Sandwich appearance of vertebral bodies, Dental malocclusion, Cortical sclerosis, Osteomyelitis, ... |
ORPHA:210110 |
Osteogenesis Imperfecta, Type Xii |
|
High palate, Narrow mouth, Malar flattening, Short stature, Micrognathia, Depressed nasal bridge,... |
OMIM:613849 |
Kahrizi Syndrome |
|
Iris coloboma, Bulbous nose, Cataract, Wide nasal bridge |
OMIM:612713 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Spinal canal stenosis, Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal d... |
OMIM:307800 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Wide mouth, Short philtrum, Microdontia, Tapered finger, Short distal phalanx of finger, Clinodac... |
OMIM:619293 |
Rubinstein-Taybi Syndrome 2 |
|
High palate, Dental malocclusion, Narrow palate, Convex nasal ridge, Retrognathia, Micrognathia, ... |
OMIM:613684 |
Trismus-Pseudocamptodactyly Syndrome |
|
Short stature, Symphalangism affecting the phalanges of the hand, Hip dislocation, Limitation of ... |
ORPHA:3377 |
Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Mandibular prognathia, Abnormal cortical bone morphology, Cranial hyp... |
ORPHA:3416 |
Phosphoserine Phosphatase Deficiency |
|
Hypertonia, Postnatal growth retardation, Intrauterine growth retardation |
OMIM:614023 |
Muenke Syndrome |
|
High palate, Dental malocclusion, Cone-shaped epiphyses of the phalanges of the hand, Plagiocepha... |
OMIM:602849 |
Oculocerebrodental Syndrome |
|
Metaphyseal dysplasia, Short stature, Retrognathia, Abnormality of the dentition, Oligodontia, De... |
ORPHA:557003 |
17Q21.31 Microduplication Syndrome |
|
High palate, Failure to thrive, Clinodactyly of the 5th finger, Malar flattening, Micrognathia, A... |
ORPHA:217340 |
Mucopolysaccharidosis Type 4 |
|
Wide mouth, Abnormality of the dentition, Short neck, Platyspondyly, Carious teeth, Genu valgum, ... |
ORPHA:582 |
Osteogenesis Imperfecta, Type V |
|
Recurrent fractures, Anterior radial head dislocation, Dentinogenesis imperfecta, Limited pronati... |
OMIM:610967 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Wide mouth, Triangular mouth, Cleft palate, Abnormality of the dentition, Depressed nasal bridge,... |
OMIM:616331 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
High palate, Dental malocclusion, Long fingers, Tapered finger, Pointed chin, Anteverted nares, M... |
OMIM:618292 |
Intellectual Disability, Buenos-Aires Type |
|
High palate, Dental malocclusion, Clinodactyly of the 5th finger, Open bite, Reduced bone mineral... |
ORPHA:3079 |
Multiple Epiphyseal Dysplasia Type 4 |
|
High palate, Short metacarpal, Cleft palate, Upper limb undergrowth, Arthralgia of the hip, Genu ... |
ORPHA:93307 |
Pseudohypoparathyroidism, Type Ia |
|
Short toe, Subcutaneous ossification, Short stature, Depressed nasal bridge, Short neck, Brachyda... |
OMIM:103580 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Recurrent fractures, Disproportionate short-limb short stature, Dentinogenesis imperfec... |
OMIM:259440 |
Frontometaphyseal Dysplasia 1 |
|
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Delayed er... |
OMIM:305620 |
3M Syndrome |
|
Bulbous nose, Congenital hip dislocation, Short neck, Delayed eruption of teeth, Hypoplasia of th... |
ORPHA:2616 |
Intellectual Disability And Myopathy Syndrome |
|
Dental malocclusion, Lumbar hyperlordosis, Broad nasal tip, Atopic dermatitis, Congenital hip dis... |
OMIM:619719 |
Intellectual Disability-Cataracts-Kyphosis Syndrome |
|
Iris coloboma, Bulbous nose, Cataract, Wide nasal bridge |
ORPHA:171860 |
Dentinogenesis Imperfecta |
|
Selective tooth agenesis, Persistence of primary teeth, Fragile teeth, Joint hypermobility, Finge... |
ORPHA:49042 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Dentinogenesis imperfecta, Reduced bone mineral density, Short stature, Worm... |
OMIM:619795 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... |
OMIM:271650 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Dentinogenesis imperfecta, Thin ribs, Epiphyseal streaking, Clinodactyly of the 4th toe, Short st... |
OMIM:604922 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Intrauterine growth retardation, Narrow mouth, Clinodactyly of the 5th finger, Reduced bone miner... |
ORPHA:2370 |
Mental Retardation, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Dyssegmental Dysplasia With Glaucoma |
|
Delayed epiphyseal ossification, Wide anterior fontanel, Hip contracture, Malar flattening, Cleft... |
OMIM:601561 |
Leukodystrophy, Hypomyelinating, 17 |
|
Growth delay, Kyphoscoliosis, Gingival overgrowth, Flexion contracture, Low hanging columella, Wi... |
OMIM:618006 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Severe short stature, Brachydactyly, Enamel hypoplasia, Downturned corners of mouth, Abnormal rib... |
ORPHA:2643 |
Van Maldergem Syndrome 2 |
|
High palate, Short fourth metatarsal, Osteopenia, Hypoplasia of the maxilla, Tented upper lip ver... |
OMIM:615546 |
Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Intervertebral disk calcification, Osteoarthritis of the small joints of the hand, Costal cartila... |
OMIM:118610 |
Osteoarthritis With Mild Chondrodysplasia |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Joint stiffness, Short stature, Platy... |
OMIM:604864 |
Rhizomelic Syndrome, Urbach Type |
|
High palate, Abnormality of the tongue, Cleft palate, Depressed nasal bridge, Short neck, Abnorma... |
ORPHA:3098 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
High palate, Bulbous nose, Malar flattening, Hemivertebrae, Depressed nasal bridge, Brachydactyly... |
ORPHA:2180 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Downslanted palpebral fissures, Iris coloboma, Hypertelorism, Nasal polyposis |
OMIM:155145 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Toe clinodactyly, Dentinogenesis imperfecta, Short stature, Dolichocephaly, Wormian bones, Upper ... |
ORPHA:166277 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Van Maldergem Syndrome 1 |
|
High palate, Short fourth metatarsal, Osteopenia, Hypoplasia of the maxilla, Tented upper lip ver... |
OMIM:601390 |
Spastic Paraplegia 18, Autosomal Recessive |
|
Kyphosis, Babinski sign, Scoliosis, Spastic paraplegia, Upper limb spasticity, Lower limb spasticity |
OMIM:611225 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Recurrent fractures, Bulbous nose, 2-3 toe syndactyly, Postnatal growth retardation, Osteopenia, ... |
ORPHA:2324 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Macrodontia of permanent maxillary central incisor, Long nose, Delayed eruption of teeth, Hypopla... |
OMIM:257850 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Dens in dente, Hemivertebrae, Macrodontia, Mandibular prognathia, Spinal canal stenosis, Clinodac... |
OMIM:263540 |
Familial Scaphocephaly Syndrome, Mcgillivray Type |
|
High palate, Trigonocephaly, Open bite, Dolichocephaly, Broad hallux phalanx, Mandibular prognath... |
ORPHA:168624 |
Metatropic Dysplasia |
|
Enlarged joints, Halberd-shaped pelvis, Depressed nasal bridge, Cone-shaped epiphysis, Platyspond... |
OMIM:156530 |
Momo Syndrome |
|
High palate, Dental malocclusion, Thick upper lip vermilion, Taurodontia, Short sternum, Abnormal... |
ORPHA:2563 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Prominent fingertip pads, Eczema, Tapered finger, Genu valgum, Mandibular prognathia, Midface ret... |
OMIM:619721 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Abnorm... |
OMIM:166600 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Disproportionate short-limb short stature, Small hand, Cone-shap... |
OMIM:618618 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Coxa vara, Short stature, Osteoarthritis, Abnormality of the epiphyses of the feet, Abnormality o... |
ORPHA:166002 |
Pai Syndrome |
|
Depressed nasal bridge, Downslanted palpebral fissures, Telecanthus, Iris coloboma, Hypertelorism... |
ORPHA:1993 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Dental malocclusion, Kyphoscoliosis, Short stature, Hallux valgus, Prominent nose |
OMIM:615541 |
Hypochondroplasia |
|
Childhood onset short-limb short stature, Lumbar hyperlordosis, Malar flattening, Flared metaphys... |
OMIM:146000 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... |
ORPHA:79106 |
Diastrophic Dysplasia |
|
Cervical kyphosis, Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Hypoplastic cervical ve... |
OMIM:222600 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
High palate, Craniosynostosis, Osteopenia, Brachyturricephaly, Genu valgum, Hypoplasia of the max... |
OMIM:182212 |
Mental Retardation, Buenos Aires Type |
|
High palate, Dental malocclusion, Failure to thrive, Clinodactyly of the 5th finger, Wide mouth, ... |
OMIM:249630 |
Premature Aging Syndrome, Penttinen Type |
|
Lipoatrophy, Thin calvarium, Thin vermilion border, Micrognathia, Delayed cranial suture closure,... |
OMIM:601812 |
Frank-Ter Haar Syndrome |
|
High palate, Wide mouth, Osteopenia, Broad nasal tip, Depressed nasal bridge, Bowing of the long ... |
OMIM:249420 |
Atelosteogenesis, Type Iii |
|
Cleft palate, Horizontal sacrum, Depressed nasal bridge, Tombstone-shaped proximal phalanges, Sho... |
OMIM:108721 |
Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
Dermatoosteolysis, Kirghizian Type |
|
Keratitis, Abnormality of the dentition, Oligodontia, Osteoarthritis, Brachydactyly, Scoliosis, A... |
ORPHA:1657 |
Cole-Carpenter Syndrome 2 |
|
High palate, Kyphosis, Dentinogenesis imperfecta, Microretrognathia, Thin ribs, Short stature, Co... |
OMIM:616294 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Calvarial osteosclerosis, Sclerosis of skull base, Tooth malposition, Bony paranasal bossing, Met... |
OMIM:123000 |
Filippi Syndrome |
|
Decreased body weight, Postnatal growth retardation, Hypodontia, Low hanging columella, Thin verm... |
OMIM:272440 |
Sclerosteosis 1 |
|
Cortically dense long tubular bones, Dental malocclusion, Tooth malposition, Malar flattening, De... |
OMIM:269500 |
Pseudohypoparathyroidism, Type Ic |
|
Short stature, Depressed nasal bridge, Short neck, Brachydactyly, Delayed eruption of teeth, Oste... |
OMIM:612462 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Short neck, Platyspondyly, Rh... |
OMIM:223800 |
Anauxetic Dysplasia 1 |
|
Short neck, Platyspondyly, Microdontia, Rhizomelia, Small epiphyses, Cervical subluxation, Mandib... |
OMIM:607095 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
High palate, Slender finger, Cleft palate, Abnormality of the dentition, Short philtrum, Short ne... |
ORPHA:251028 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Severe short stature, Micrognathia, Short middle phalanx of toe, Short proximal phalanx of hallux... |
OMIM:251190 |
Aredyld Syndrome |
|
Craniofacial hyperostosis, Narrow mouth, Lipoatrophy, Short stature, Cachexia, Abnormal nasal mor... |
ORPHA:1133 |
Osteogenesis Imperfecta, Type Viii |
|
Femoral bowing, Osteopenia, Platyspondyly, Decreased calvarial ossification, Disproportionate sho... |
OMIM:610915 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Cleft palate, Malar flattening, Glossoptosis, Micrognathia, Osteoarthritis, Long philtrum, Abnorm... |
ORPHA:166100 |
Cole-Carpenter Syndrome |
|
Kyphosis, Recurrent fractures, Short stature, Micrognathia, Scoliosis, Delayed eruption of teeth,... |
ORPHA:2050 |
Otodental Dysplasia |
|
Agenesis of premolar, Taurodontia, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... |
OMIM:166750 |
Osteolysis Syndrome, Recessive |
|
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... |
OMIM:259610 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Depressed nasal ridge, Short humerus, Brachydactyly, Abnormal ... |
ORPHA:2831 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Spinal canal stenosis, Intrauterine growth retardation, Malar flattening, Depressed nasal bridge,... |
OMIM:614613 |
Stickler Syndrome |
|
Cleft palate, Depressed nasal ridge, Depressed nasal bridge, Platyspondyly, Advanced eruption of ... |
ORPHA:828 |
Familial Osteodysplasia, Anderson Type |
|
Bulbous nose, Depressed nasal ridge, Long nose, Carious teeth, Mandibular prognathia, Abnormal co... |
ORPHA:2769 |
Codas Syndrome |
|
Coronal cleft vertebrae, Short stature, Depressed nasal bridge, Congenital hip dislocation, Brach... |
ORPHA:1458 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
High palate, Bulbous nose, Cleft palate, Small finger, Hypoplasia of the maxilla, Clinodactyly of... |
OMIM:170390 |
Widow'S Peak Syndrome |
|
Kyphosis, Inguinal hernia, Arthralgia/arthritis, Short stature, High iliac wing, Arthralgia of th... |
OMIM:314570 |
Dental Ankylosis |
|
Mandibular prognathia, Clinodactyly of the 5th finger, Tooth agenesis, Abnormal dental enamel mor... |
ORPHA:1077 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Cleft palate, Short stature, Micrognathia, Short neck, Short nose, Anteverted nares, Abnormal ver... |
ORPHA:2015 |
Primary Condylar Hyperplasia |
|
Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Macrodontia, Abno... |
ORPHA:477781 |
Osteochondrosis Of The Metatarsal Bone |
|
Abnormality of the third metatarsal bone, Progressive joint destruction, Joint stiffness, Thicken... |
ORPHA:564003 |
Amelogenesis Imperfecta |
|
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... |
ORPHA:88661 |
Raine Syndrome |
|
High palate, Wide mouth, Cleft palate, Depressed nasal bridge, Short neck, Brachyturricephaly, Mi... |
OMIM:259775 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
High palate, Osteopenia, Short neck, Hammertoe, Ventral hernia, Umbilical hernia, Cervical C2/C3 ... |
OMIM:618000 |
Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Otosclerosis, Recurrent fractures, Dentinogenesis imperfecta, Femoral bowing present at... |
OMIM:166220 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Wide mouth, Everted lower lip vermilion, Short philtrum, Scoliosis, Truncal obesity, Sh... |
ORPHA:2429 |
Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... |
OMIM:271530 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short 1st metacarpal, Cone-shaped epiphysis, Microdontia, Proximal femoral epiphysiolysis, Intrau... |
OMIM:210720 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Bulbous nose, Abnormality of the dentition, Osteopenia, Platyspondyly, Biconcave vertebral bodies... |
OMIM:271510 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Kyphosis, Plagiocephaly, Clinodactyly of the 5th finger, Hypoplastic vertebral bodies, Hypodontia... |
ORPHA:2916 |
Arthrogryposis, Distal, Type 2A |
|
High palate, Flexion contracture of finger, Pursed lips, Chin with H-shaped crease, Short neck, S... |
OMIM:193700 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Oral mucosal blisters, Hypodontia, Camptodactyly of finger, Carious teeth, Enamel hypoplasia |
OMIM:226650 |
Short Syndrome |
|
Dental malocclusion, Lipoatrophy, Hypodontia, Inguinal hernia, Small for gestational age, Microgn... |
OMIM:269880 |
Diastrophic Dysplasia |
|
Cleft palate, Depressed nasal bridge, Symphalangism affecting the phalanges of the hand, Ulnar de... |
ORPHA:628 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Depressed nasal bridge, Congenital hip dislocation, Tapered finger, Genu valgum, Shor... |
OMIM:616007 |
Hall-Riggs Syndrome |
|
Failure to thrive, Wide mouth, Joint stiffness, Short stature, Platyspondyly, Brachydactyly, Dela... |
ORPHA:2107 |
Arthrogryposis, Distal, Type 2B1 |
|
High palate, Narrow mouth, Short stature, Micrognathia, Camptodactyly of finger, Scoliosis, Long ... |
OMIM:601680 |
Fryns Macrocephaly |
|
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... |
OMIM:600302 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... |
ORPHA:363417 |
Auriculocondylar Syndrome 2 |
|
Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Micrognathi... |
OMIM:614669 |
Brachydactyly, Type B1 |
|
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed... |
OMIM:113000 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Iris coloboma, Microcoria, Chorioretinal coloboma |
OMIM:616428 |
Non-Distal Trisomy 10Q |
|
High palate, Convex nasal ridge, Everted lower lip vermilion, Short stature, Micrognathia, Depres... |
ORPHA:1695 |
Osteogenesis Imperfecta, Type Xi |
|
Coxa vara, Kyphoscoliosis, Brachycephaly, Dentinogenesis imperfecta, Short stature, Abnormality o... |
OMIM:610968 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
High palate, Dental malocclusion, Failure to thrive, Kyphoscoliosis, Supernumerary tooth, Anodont... |
OMIM:264475 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Short stature, Micrognat... |
ORPHA:3082 |
Geroderma Osteodysplastica |
|
Beaking of vertebral bodies, Recurrent fractures, Abnormal bone ossification, Severe short statur... |
ORPHA:2078 |
Osteoglophonic Dysplasia |
|
High palate, Broad phalanx, Craniosynostosis, Depressed nasal bridge, Short neck, Platyspondyly, ... |
OMIM:166250 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Depressed nasal bridge, Hypertelorism, Epicanthus |
OMIM:616911 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta |
OMIM:617297 |
Hallermann-Streiff Syndrome |
|
High palate, Thin calvarium, Decreased number of sternal ossification centers, Scaphocephaly, Pro... |
OMIM:234100 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Slender finger, Short philtrum, Down-sloping shoulders, Short neck, Short nose, Proportionate sho... |
ORPHA:391408 |
Craniofaciofrontodigital Syndrome |
|
Dental malocclusion, Hypoplastic vertebral bodies, Short stature, Abnormality of the dentition, D... |
OMIM:114620 |
Harrod Syndrome |
|
High palate, Dental malocclusion, Failure to thrive, Kyphosis, Narrow mouth, Arachnodactyly, Long... |
ORPHA:2115 |
Nail-Patella Syndrome |
|
Abnormality of femur morphology, Proximal finger joint hyperextensibility, Limited pronation/supi... |
ORPHA:2614 |
Osteoglosphonic Dysplasia |
|
Tooth agenesis, Abnormal bone ossification, Severe short stature, Inguinal hernia, Craniosynostos... |
ORPHA:2645 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Bulbous nose, Osteopenia, Delayed eruption of teeth, Thin metacarpal cortices, C1-C2 subluxation,... |
OMIM:259600 |
Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Growth delay, Cleft palate, Everted lower lip vermilion, Small hand... |
OMIM:619980 |
Cat-Eye Syndrome |
|
Downslanted palpebral fissures, Iris coloboma, Hypertelorism, Chorioretinal coloboma |
ORPHA:195 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Short distal phalanx of finger, Short stature, Abnormality of the dentition, Broad nasal tip, Ost... |
ORPHA:2776 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Kyphosis, Short mandibular rami, Delayed eruption of teeth, Tongue atrophy |
OMIM:141300 |
Craniolenticulosutural Dysplasia |
|
High palate, Wide mouth, Cleft palate, Osteopenia, Delayed eruption of teeth, Carious teeth, Dela... |
OMIM:607812 |
Eiken Syndrome |
|
Short philtrum, Broad ribs, Multiple unerupted teeth, Midface retrusion, Thick lower lip vermilio... |
OMIM:600002 |
Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia, Joint stiffness, Short stature |
ORPHA:2871 |
Dentin Dysplasia |
|
Abnormality of dental morphology, Increased bone mineral density, Abnormal dental enamel morphology |
ORPHA:1653 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Iridocyclitis, Mild postnatal growth retardation, Uveitis, Ankle swelling, Knee osteoarthritis, E... |
ORPHA:85408 |
Cohen Syndrome |
|
Lumbar hyperlordosis, Macrodontia of permanent maxillary central incisor, Thoracic scoliosis, Hig... |
OMIM:216550 |
Mcdonough Syndrome |
|
Dental malocclusion, Kyphoscoliosis, Short stature, Micrognathia, Short philtrum, Furrowed tongue... |
OMIM:248950 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Narrow palate, Dolichocephaly, Brachydactyly, Prominent nose, Mandibular prognathia, Wide nasal b... |
OMIM:617169 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Dental malocclusion, Malar flattening, Short stature, Micrognathia, Short neck, Brachydactyly, Di... |
ORPHA:436245 |
17Q11.2 Microduplication Syndrome |
|
Malar flattening, Short stature, Thin vermilion border, Bifid nose, Enamel hypoplasia, Thick nasa... |
ORPHA:139474 |
Pycnodysostosis |
|
Carious teeth, Absent frontal sinuses, Spondylolisthesis, Increased bone mineral density, Microgn... |
OMIM:265800 |
Intellectual Disability, Birk-Barel Type |
|
High, narrow palate, Dolichocephaly, Micrognathia, Short philtrum, Broad nasal tip, Congenital fi... |
ORPHA:166108 |
Codas Syndrome |
|
Depressed nasal bridge, Congenital hip dislocation, Delayed eruption of teeth, Broad skull, Genu ... |
OMIM:600373 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Delayed ossification of carpal bones, Short stature, Hyperextensibility of the finger joints, Hip... |
OMIM:105835 |
Sponastrime Dysplasia |
|
Depressed nasal bridge, Platyspondyly, Biconcave vertebral bodies, Microdontia, Hypoplasia of the... |
ORPHA:93357 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Metaphyseal dysplasia, Patchy sclerosis of finger phalanx, Bony paranasal bossing, Flared metaphy... |
OMIM:218400 |
Dysosteosclerosis |
|
High palate, Short sternum, Osteopenia, Platyspondyly, Delayed eruption of teeth, Broad ribs, Scl... |
OMIM:224300 |
Potocki-Lupski Syndrome |
|
High palate, Dental malocclusion, Failure to thrive, Wide mouth, Prominent nasal tip, Small for g... |
OMIM:610883 |
Gorlin Syndrome |
|
Brachycephaly, Arachnodactyly, Hemivertebrae, Vertebral fusion, Abnormality of the sense of smell... |
ORPHA:377 |
Cataract 9, Multiple Types |
|
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract |
OMIM:604219 |
Spondylocarpotarsal Synostosis Syndrome |
|
Cleft palate, Broad nasal tip, Short neck, Disproportionate short-trunk short stature, Short nose... |
OMIM:272460 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Short toe, Clinodactyly of the 5th finger, Spondylolisthesis, Everted lower lip verm... |
OMIM:617877 |
Dysosteosclerosis |
|
Irregular vertebral endplates, Recurrent fractures, Craniofacial hyperostosis, Hypoplastic verteb... |
ORPHA:1782 |
Osteogenesis Imperfecta |
|
Abnormality of femur morphology, Femoral bowing, Abnormality of the dentition, Osteopenia, Biconc... |
ORPHA:666 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Dental malocclusion, Brachydactyly, High, narrow palate, Joint laxity |
OMIM:619692 |
Temtamy Syndrome |
|
Convex nasal ridge, Telecanthus, Iris coloboma, Hypertelorism, Chorioretinal coloboma |
ORPHA:1777 |
Mental Retardation, X-Linked 91 |
|
High palate, Small hand, Short 5th finger, Macrodontia, Short nose, Cubitus valgus, Clinodactyly,... |
OMIM:300577 |
Terminal Osseous Dysplasia |
|
Depressed nasal tip, Telecanthus, Epicanthus, Iris coloboma, Hypertelorism, Ptosis |
OMIM:300244 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Platyspondyly, Short neck, Abnormal epiphysis morphology, Generalized bone demineralization, Prem... |
ORPHA:93352 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Short stature, Flattened metacarpal heads, Osteoarthritis, Platyspondyly, Flattened metatarsal he... |
OMIM:271600 |
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Iris coloboma, Lacrimal duct atresia |
ORPHA:139450 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational... |
OMIM:608154 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Proportionate short stature, Osteoarthritis, Abnormal epiphysis morphology |
ORPHA:93283 |
Sclerosteosis 2 |
|
Cutaneous finger syndactyly, Frontal bossing, Mandibular prognathia, Short finger |
OMIM:614305 |
Acrootoocular Syndrome |
|
Dental malocclusion, Short toe, Failure to thrive, Supernumerary tooth, Abnormal finger flexion c... |
ORPHA:2980 |
Anophthalmia Plus Syndrome |
|
Abnormal nasal morphology, Iris coloboma, Choanal atresia, Eyelid coloboma, Hypertelorism, Blepha... |
ORPHA:1104 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Widely spaced teeth, Dental malocclusion, Malar flattening, Short stature |
OMIM:616108 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
High palate, Dental malocclusion, Failure to thrive, Micrognathia, Osteopenia, Scoliosis, Deep ph... |
ORPHA:329178 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, Bo... |
ORPHA:89936 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Kyphosis, Beaking of vertebral bodies, Joint stiffness, Dolichocephaly, Depressed nasal bridge, S... |
ORPHA:40 |
Marshall Syndrome |
|
Macrodontia of permanent maxillary central incisor, Cleft palate, Depressed nasal bridge, Clinoda... |
OMIM:154780 |
Permanent Molars, Secondary Retention Of |
|
Mandibular prognathia, Clinodactyly of the 5th finger, Abnormality of the dentition |
OMIM:157950 |
Schaaf-Yang Syndrome |
|
Kyphosis, Flexion contracture, Short stature, Small hand, Retrognathia, Open mouth, Brachydactyly... |
OMIM:615547 |
Marshall Syndrome |
|
High palate, Cleft palate, Abnormality of the dentition, Depressed nasal bridge, Genu valgum, Sho... |
ORPHA:560 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Abnormal pelvis bone morphology, Osteoarthritis, Abnormality of the vertebral column, Obesity |
ORPHA:2206 |
Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Microdontia |
OMIM:301200 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Sparse eyelashes, Depressed nasal bridge, Thin eyebrow, Hypertelorism, Wide nasal bridge |
OMIM:617392 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Plagiocephaly, Micrognathia, Unilambdoid synostosis, Long philtrum, Scoliosis, Ulnar deviation of... |
OMIM:618577 |
Developmental And Epileptic Encephalopathy 73 |
|
Failure to thrive, Flexion contracture, Inguinal hernia, Scoliosis, Midface retrusion, Narrow nas... |
OMIM:618379 |
Pseudohypoparathyroidism Type 1B |
|
Diaphyseal sclerosis, Increased bone mineral density, Short stature, Depressed nasal bridge, Shor... |
ORPHA:94089 |
Dental Anomalies And Short Stature |
|
Narrow vertebral interpedicular distance, Short stature, Oligodontia, Platyspondyly, Herniation o... |
OMIM:601216 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
Cat-Eye Syndrome (Type I) |
|
Downslanted palpebral fissures, Iris coloboma |
DECIPHER:42 |
Ck Syndrome |
|
Slender build, Kyphosis, High palate, Malar flattening, Retrognathia, Micrognathia, Scoliosis, Hy... |
OMIM:300831 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... |
OMIM:204700 |
Osteochondrosis Of The Tarsal Bone |
|
Chondritis, Arthritis, Tarsal sclerosis, Osteochondritis dissecans, Flattening of the talar dome,... |
ORPHA:563991 |
Cleft Palate, Isolated |
|
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Achondrogenesis Type 1B |
|
Severe short stature, Micrognathia, Short neck, Long philtrum, Abnormal rib morphology, Femoral h... |
ORPHA:93298 |
Melnick-Needles Syndrome |
|
Cone-shaped epiphyses of the phalanges of the hand, Abnormality of the pubic bone, Delayed erupti... |
ORPHA:2484 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Pierpont Syndrome |
|
Prominent fingertip pads, Broad nasal tip, Short neck, Short nose, Midface retrusion, Decreased b... |
OMIM:602342 |
Winchester Syndrome |
|
Broad metacarpals, Kyphosis, Gingival overgrowth, Generalized osteoporosis, Carpal osteolysis, Ar... |
OMIM:277950 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Platyspondyly, Disproportionate short-trunk short stature, Irregular acetabular roof, Genu valgum... |
ORPHA:93316 |
Hajdu-Cheney Syndrome |
|
High palate, Foot acroosteolysis, Osteopenia, Short neck, Biconcave vertebral bodies, Osteolytic ... |
OMIM:102500 |
Hamamy Syndrome |
|
High palate, Wide mouth, Craniosynostosis, Osteopenia, Down-sloping shoulders, Tapered finger, Cl... |
OMIM:611174 |
Smith-Magenis Syndrome |
|
Cleft palate, Depressed nasal bridge, Short philtrum, Short nose, Tented upper lip vermilion, Ope... |
ORPHA:819 |
Nestor-Guillermo Progeria Syndrome |
|
Osteolysis, Delayed closure of the anterior fontanelle, Midface retrusion, Joint stiffness, Flexi... |
OMIM:614008 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Posterior embryotoxon, Iris coloboma, Cataract, Ptosis, Chorioretinal coloboma |
ORPHA:1473 |
Cockayne Syndrome Type 2 |
|
Kyphosis, Widely spaced primary teeth, Anodontia, Hypoplasia of the primary teeth, Scarring, Flex... |
ORPHA:90322 |
Short Stature, Dauber-Argente Type |
|
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Short statu... |
OMIM:619489 |
Achondrogenesis Type 1A |
|
Recurrent fractures, Severe short stature, Multiple rib fractures, Micrognathia, Short neck, Long... |
ORPHA:93299 |
Scarf Syndrome |
|
Short sternum, Inguinal hernia, Craniosynostosis, Short neck, Long philtrum, Abnormal form of the... |
ORPHA:3134 |
Progeroid Syndrome, Petty Type |
|
Short distal phalanx of finger, Failure to thrive, Wide anterior fontanel, Tooth agenesis, Reduce... |
ORPHA:2963 |
Apert Syndrome |
|
Cleft palate, Craniosynostosis, Depressed nasal bridge, Cutaneous syndactyly, Brachyturricephaly,... |
OMIM:101200 |
Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Frontal bossing, Long philtrum, Short nose, Microretrognathia |
OMIM:218010 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Narrow mouth, Cleft palate, Short stature, Coronal craniosynostosis, Micrognathia, Bra... |
OMIM:614078 |
Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
High palate, Bulbous nose, Prominent fingertip pads, Dolichocephaly, Scoliosis, Tapered finger, L... |
OMIM:617773 |
Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Microcornea |
OMIM:610202 |
Acromicric Dysplasia |
|
Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Narrow mouth, Joint stiffness... |
ORPHA:969 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Iris coloboma, Microcornea, Chorioretinal coloboma |
OMIM:601706 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Enamel hypoplasia, Convex nasal ridge, Carious teeth |
OMIM:614564 |
49,Xxxxy Syndrome |
|
Cleft palate, Depressed nasal ridge, Depressed nasal bridge, Down-sloping shoulders, Short neck, ... |
ORPHA:96264 |
Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic sacrum, Short neck, Platyspondyly... |
OMIM:304950 |
Craniolenticulosutural Dysplasia |
|
High palate, Wide mouth, Premature loss of teeth, Short stature, Thin vermilion border, High ilia... |
ORPHA:50814 |
48,Xxxy Syndrome |
|
Cleft palate, Depressed nasal ridge, Down-sloping shoulders, Short neck, Delayed eruption of teet... |
ORPHA:96263 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Thick upper lip vermilion, Wide mouth, Postnatal growth retardation, Mandibular prognathia, Brach... |
OMIM:309545 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Abnormality of the d... |
ORPHA:457395 |
Fibrochondrogenesis 1 |
|
Cleft palate, Depressed nasal bridge, Short neck, Platyspondyly, Rhizomelia, Short nose, Omphaloc... |
OMIM:228520 |
Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Short metatarsal, Convex nasal ridge, Split foot, Broad hallux phalanx, Symph... |
ORPHA:1540 |
Multiple Pterygium Syndrome, Escobar Variant |
|
High palate, Multiple joint contractures, Triangular mouth, Cleft palate, Down-sloping shoulders,... |
OMIM:265000 |
48,Xxyy Syndrome |
|
Clinodactyly of the 5th finger, Taurodontia, Cleft palate, Open bite, Inguinal hernia, Scoliosis,... |
ORPHA:10 |
Beukes Hip Dysplasia |
|
Flat capital femoral epiphysis, Wide proximal femoral metaphysis, Osteoarthritis, Shallow acetabu... |
OMIM:142669 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Cleft palate, Delayed eruption of teeth, Abnormal metaphysis morphology, Severe short stature, Hi... |
ORPHA:2780 |
Renpenning Syndrome |
|
Joint stiffness, Narrow mouth, Clinodactyly of the 5th finger, Severe short stature, High, narrow... |
ORPHA:3242 |
Tricho-Dento-Osseous Syndrome |
|
Taurodontia, Increased bone mineral density, Periapical tooth abscess, Dolichocephaly, Finger cli... |
ORPHA:3352 |
Spondylometaphyseal Dysplasia, East African Type |
|
Coxa vara, Disproportionate short-limb short stature, Metaphyseal spurs, Metaphyseal widening, Br... |
OMIM:611702 |
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet |
|
Broad phalanx, Bulbous nose, Micrognathia, Prominent metopic ridge, Bifid nose, Bifid nasal tip, ... |
OMIM:275595 |
Metatropic Dysplasia |
|
Kyphosis, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of the 5th finger... |
ORPHA:2635 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Depressed nasal ridge, Broad nasal tip, C1-C2 subluxation, Short nose, Hypoplasia of the maxilla,... |
ORPHA:79345 |
Mental Retardation Syndrome, Belgian Type |
|
Mandibular prognathia, Cleft ala nasi, Eunuchoid habitus, Wide nose |
OMIM:249599 |
Weismann-Netter Syndrome |
|
Kyphosis, Severe short stature, Calvarial hyperostosis, Horizontal sacrum, Scoliosis, Fibular bow... |
OMIM:112350 |
Pfeiffer Syndrome |
|
High palate, Clinodactyly of the 5th finger, Short stature, Short philtrum, Short neck, Synostosi... |
ORPHA:710 |
Marfanoid Habitus With Microcephaly And Glomerulonephritis |
|
High palate, Kyphosis, High, narrow palate, Arachnodactyly, Joint laxity, Glomerulonephritis, Man... |
OMIM:248760 |
Grant Syndrome |
|
Abnormal palate morphology, Joint dislocation, Open bite, Abnormality of the glenoid fossa, Micro... |
ORPHA:2097 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal dental enamel morphology, Vertebral segmentation defect, Kyphosis, Clinodactyly of the 5... |
ORPHA:1005 |
Pfeiffer Syndrome |
|
High palate, Elbow ankylosis, Coronal craniosynostosis, Depressed nasal bridge, Brachyturricephal... |
OMIM:101600 |
Sjogren-Larsson Syndrome |
|
Enamel hypoplasia, Thoracic kyphosis, Flexion contracture, Short stature |
OMIM:270200 |
Oligodontia |
|
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
Pettigrew Syndrome |
|
Wide mouth, Flexion contracture, Scoliosis, Prominent nose, Thick vermilion border, Mandibular pr... |
OMIM:304340 |
Lethal Osteosclerotic Bone Dysplasia |
|
Gingival overgrowth, Depressed nasal ridge, Retrognathia, Micrognathia, Delayed cranial suture cl... |
ORPHA:1832 |
Junctional Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Enamel hypoplasia, Atrophic scars, Gastrointestinal inflamm... |
ORPHA:79405 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Lumbar hyperlordosis, Malar flattening, Metaphyseal widening, Short neck, Brachydactyly, Irregula... |
OMIM:612813 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the radius, Short philtrum, Radioulnar synostosis, Hypoplasia of the ulna, Short no... |
ORPHA:3258 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Abdominal obesity, Kyphosis, Wide mouth, Bulbous nose, Macroglossia, Short stature, Small hand, D... |
OMIM:300354 |
Craniosynostosis, Herrmann-Opitz Type |
|
Convex nasal ridge, Malar flattening, Cleft palate, Craniosynostosis, Micrognathia, Short stature... |
ORPHA:2145 |
Phenobarbital Embryopathy |
|
Malar flattening, Brachydactyly, Abnormal nasal base, Unilateral cleft lip, Mandibular prognathia... |
ORPHA:1919 |
Hypomelanosis Of Ito |
|
Epicanthus, Iris coloboma, Hypertelorism, Cataract |
OMIM:300337 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Kyphosis, Wide mouth, Clinodactyly of the 5th finger, Narrow mouth, Prominent nasal tip, Inguinal... |
OMIM:615834 |
Aarskog-Scott Syndrome |
|
Cleft palate, Abnormality of the dentition, Short neck, Delayed eruption of teeth, Hypoplasia of ... |
ORPHA:915 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
High palate, Failure to thrive, Wide anterior fontanel, Narrow mouth, Malar flattening, Inguinal ... |
OMIM:219200 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Fai... |
OMIM:600081 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
High palate, Arachnodactyly, Thoracic kyphosis, Joint laxity, Glomerulonephritis, Mandibular prog... |
ORPHA:2172 |
Loeys-Dietz Syndrome 5 |
|
High palate, Reduced subcutaneous adipose tissue, Hiatus hernia, Cleft palate, Tented upper lip v... |
OMIM:615582 |
Loose Anagen Syndrome |
|
Iris coloboma |
ORPHA:168 |
Carpenter Syndrome 1 |
|
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Depressed nasal bridge, Shor... |
OMIM:201000 |
Momo Syndrome |
|
High palate, Dental malocclusion, Taurodontia, Short sternum, Short neck, Long philtrum, Delayed ... |
OMIM:157980 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Joint stiffness, Multiple small vertebral fractures, Decreased hip abduction, Back pain, Osteoart... |
ORPHA:93311 |
Mucolipidosis Iii Alpha/Beta |
|
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Short ribs, Craniosynosto... |
OMIM:252600 |
Geroderma Osteodysplasticum |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Tibial bowing, Kyphoscoliosis, Period... |
OMIM:231070 |
Oculodentodigital Dysplasia |
|
Cleft palate, Microdontia, Carious teeth, Selective tooth agenesis, Cleft upper lip, Thin antever... |
OMIM:164200 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Overlapping toe, Malar flattening, Craniosynostosis, Short stature, Femoral bowing, Osteopenia, S... |
OMIM:616723 |
Raynaud-Claes Syndrome |
|
Mandibular prognathia, Scoliosis, Midface retrusion |
OMIM:300114 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Failure to thrive, Recurrent otitis media, Prominent fingertip pads, Flexion contracture, Retrogn... |
ORPHA:391372 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Failure to thrive, Syndactyly, Carious teeth, Enamel hypoplasia, Atrophic scars |
OMIM:226700 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Dental malocclusion, Mandibular prognathia, High palate, Arthrogryposis multiplex congenita |
OMIM:608931 |
Otopalatodigital Syndrome, Type I |
|
Cleft palate, Short 3rd metacarpal, Broad hallux, Short nose, Sandal gap, Delayed closure of the ... |
OMIM:311300 |
Bone Marrow Failure Syndrome 3 |
|
Failure to thrive, Metaphyseal dysplasia, Intrauterine growth retardation, Hypodontia, Reduced bo... |
OMIM:617052 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology |
OMIM:612529 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
High palate, Cleft palate, Platyspondyly, Ulnar deviation of finger, Abnormal epiphysis morpholog... |
ORPHA:93359 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
Deafness, Autosomal Recessive 108 |
|
Iris coloboma |
OMIM:617654 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Peters anomaly, Iris coloboma, Ocular anterior segment dysgenesis, Coloboma |
OMIM:610023 |
Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
Osteogenesis Imperfecta, Type X |
|
Dentinogenesis imperfecta, Thin ribs, Malar flattening, Generalized joint laxity, Micrognathia, O... |
OMIM:613848 |
Lessel-Kreienkamp Syndrome |
|
Dental malocclusion, Plagiocephaly, Clinodactyly of the 5th finger, Wide cranial sutures, Frontal... |
OMIM:619149 |
Familial Calcium Pyrophosphate Deposition |
|
Joint swelling, Joint dislocation, Chondrocalcinosis, Osteoarthritis, Arthritis, Calcification of... |
ORPHA:1416 |
Osteopathia Striata With Cranial Sclerosis |
|
High palate, Cleft palate, Broad ribs, Delayed closure of the anterior fontanelle, Omphalocele, T... |
OMIM:300373 |
Seckel Syndrome |
|
Intrauterine growth retardation, Clinodactyly of the 5th finger, Tooth agenesis, Convex nasal rid... |
ORPHA:808 |
Chst3-Related Skeletal Dysplasia |
|
Enlarged joints, Kyphoscoliosis, Flexion contracture, Brachydactyly, Irregular epiphyses, Delayed... |
ORPHA:263463 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
High palate, Wide mouth, Bulbous nose, Depressed nasal bridge, Short neck, Short nose, Umbilical ... |
ORPHA:369891 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Carious teeth, Rocker bottom foot, Flexion contracture, Micrognathia, ... |
OMIM:214150 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Kyphoscoliosis, Severe short stature, Severe failure to thrive, Malar flattening, Cleft palate, M... |
OMIM:215100 |
Gapo Syndrome |
|
Abnormal palate morphology, Growth delay, Everted lower lip vermilion, Short stature, Micrognathi... |
ORPHA:2067 |
Scarf Syndrome |
|
Short sternum, Inguinal hernia, Coronal craniosynostosis, Short neck, Long philtrum, Abnormal for... |
OMIM:312830 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Plagiocephaly, Clinodactyly of the 5th finger, Malar flattening, Depressed nasal ridge, Small han... |
OMIM:618672 |
Acromesomelic Dysplasia 4 |
|
Broad phalanx, Platyspondyly, Broad finger, Genu valgum, Rhizomelia, Sandal gap, Umbilical hernia... |
OMIM:619636 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cleft palate, Osteopenia, Short neck, Platyspondyly, Short nose, Intrauterine growth retardation,... |
OMIM:616897 |
Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Downslanted palpebral fissures, Iris coloboma, Short nose, Proptosis, Hyp... |
ORPHA:2143 |
Schwartz-Jampel Syndrome |
|
High palate, Pursed lips, Cleft palate, Abnormally ossified vertebrae, Short neck, Platyspondyly,... |
ORPHA:800 |
Eng-Strom Syndrome |
|
Short stature, Camptodactyly of finger, Brachydactyly, Scoliosis, Arthritis, Intrauterine growth ... |
ORPHA:1937 |
Zimmermann-Laband Syndrome |
|
High palate, Wide mouth, Bulbous nose, Supernumerary tooth, Hypodontia, Cleft palate, Macroglossi... |
ORPHA:3473 |
Myofibrillar Myopathy 10 |
|
Kyphosis, Flexion contracture of finger, Sandal gap, Elbow flexion contracture, Knee flexion cont... |
OMIM:619040 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel |
OMIM:613211 |
Lowry-Maclean Syndrome |
|
Cleft palate, Craniosynostosis, Osteopenia, Short nose, Short nasal bridge, Hypoplasia of the max... |
ORPHA:2409 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
High palate, Clinodactyly of the 5th finger, Prominent fingertip pads, Retrognathia, Broad nasal ... |
OMIM:615637 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Flexion contracture, Micrognathia, Overlapping fingers, Congenital hip dislocation, Sco... |
OMIM:618291 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Oral mucosal blisters, Carious teeth |
ORPHA:79406 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal palate morphology, Kyphosis, Wide anterior fontanel, Wide mouth, Plagiocephaly, Malar fl... |
ORPHA:85199 |
Smith-Magenis Syndrome |
|
Velopharyngeal insufficiency, Malar flattening, Everted upper lip vermilion, Short stature, Abnor... |
OMIM:182290 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Cleft palate, Short philtrum, Prominent metopic ridge, Scoliosis, Mandibular prognathia |
ORPHA:85317 |
Schneckenbecken Dysplasia |
|
Cleft palate, Short neck, Platyspondyly, Short nose, Ovoid vertebral bodies, Umbilical hernia, Du... |
OMIM:269250 |
Cranio-Osteoarthropathy |
|
Joint swelling, Joint stiffness, Osteoarthritis, Eczema, Deviation of finger, Abnormality of tibi... |
ORPHA:1525 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
High palate, Recurrent fractures, Eczematoid dermatitis, Persistence of primary teeth, Skin rash,... |
OMIM:147060 |
Osteopetrosis, Autosomal Recessive 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Persistence o... |
OMIM:259710 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
High palate, Multiple joint contractures, Slender long bones with narrow diaphyses, Craniosynosto... |
ORPHA:536467 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the... |
OMIM:609813 |
Peripheral Dysostosis |
|
Joint stiffness, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th fing... |
ORPHA:1795 |
Lowry-Maclean Syndrome |
|
Convex nasal ridge, Cleft palate, Craniosynostosis, Delayed eruption of teeth, Intrauterine growt... |
OMIM:600252 |
Kohlschutter-Tonz Syndrome-Like |
|
Intrauterine growth retardation, 2-3 toe syndactyly, Decreased body weight, Small hand, Scoliosis... |
OMIM:619229 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Irregular vertebral endplates, Lumbar hyperlordosis, Platyspondyly, Scoliosis, Genu varum, Dispro... |
OMIM:609223 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... |
ORPHA:174 |
Temtamy Syndrome |
|
Convex nasal ridge, Lens luxation, Downslanted palpebral fissures, Iris coloboma, Hypertelorism, ... |
OMIM:218340 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Premature loss of teeth, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Clinodact... |
OMIM:619269 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Enlarged joints, Kyphosis, Sclerosis of skull base, Hip contracture, Severe short stature, Hypere... |
OMIM:313420 |
Spastic Paraplegia 50, Autosomal Recessive |
|
High palate, Wide mouth, Bulbous nose, Adducted thumb, Short philtrum, Mandibular prognathia, Wid... |
OMIM:612936 |
Craniosynostosis And Dental Anomalies |
|
High palate, Depressed nasal bridge, Delayed eruption of teeth, Broad hallux, Sagittal craniosyno... |
OMIM:614188 |
Crouzon Syndrome |
|
Convex nasal ridge, Iris coloboma, Proptosis, Choanal atresia, Hypertelorism, Conjunctivitis, Ptosis |
ORPHA:207 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Robinow Syndrome |
|
Triangular mouth, Broad alveolar ridges, Hemivertebrae, Broad nasal tip, Depressed nasal bridge, ... |
ORPHA:97360 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Atopic dermatitis, Cone-... |
ORPHA:397973 |
Congenital Hydrocephalus |
|
Downslanted palpebral fissures, Iris coloboma, Bulbous nose |
ORPHA:2185 |
Progressive Osseous Heteroplasia |
|
Ectopic ossification in muscle tissue, Osteoarthritis, Brachydactyly, Limitation of joint mobility |
ORPHA:2762 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Enamel hypoplasia, Atrophic scars, Growth delay, Scarring alopecia of scalp |
ORPHA:79402 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Broad nasal tip, Carious teeth, Enamel hypoplasia, Hepatitis, Thick vermilion border |
ORPHA:363523 |
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Cone-shaped epiphysis, Atopic dermatitis, Hallux valgus, Dental crowding, Mandibular prognathia, ... |
OMIM:606772 |
Gm1 Gangliosidosis |
|
Depressed nasal ridge, Broad nasal tip, Depressed nasal bridge, Platyspondyly, Abnormal epiphysis... |
ORPHA:354 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
High palate, Retrognathia, Depressed nasal bridge, Short nose, Pneumonia, Anteverted nares, Growt... |
OMIM:614069 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth |
OMIM:615887 |
Myopathy, Myofibrillar, 8 |
|
High palate, Dental malocclusion, Spinal rigidity, Micrognathia, Scoliosis, Joint contracture of ... |
OMIM:617258 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Thin upper lip vermilion, Syndactyly |
OMIM:613576 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Mandibular prognathia, Recurrent aspiration pneumonia, Osteoporosis |
OMIM:619971 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
High palate, Wide mouth, Cleft palate, Congenital hip dislocation, Short neck, Tapered finger, Sh... |
OMIM:300209 |
Lujan-Fryns Syndrome |
|
High palate, Arachnodactyly, Micrognathia, Camptodactyly of finger, Abnormality of the dentition,... |
ORPHA:776 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Bulbous nose, Cleft palate, Short philtrum, Short neck, Thin bony cortex, Mandibular prognathia, ... |
OMIM:309583 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Malar flattening, Depressed nasal ridge, Short tibia, Short 3rd metacarpal, Short 2nd metacarpal,... |
OMIM:118651 |
Mmep Syndrome |
|
Split foot, Oral cleft, Triphalangeal thumb, Median cleft lip, Mandibular prognathia |
ORPHA:3434 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Triangular mouth, Cleft palate, Depressed nasal bridge, Short neck, Short nose, Omphalocele, Midf... |
OMIM:616894 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Scoliosis, Vocal cord paralysis |
ORPHA:640 |
Pseudodiastrophic Dysplasia |
|
Failure to thrive, Brachycephaly, Lumbar hyperlordosis, Severe short stature, Malar flattening, M... |
OMIM:264180 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Short distal phalanx of finger, Dental malocclusion, Short distal phalanx of toe, Short 1st metac... |
OMIM:601957 |
Achondroplasia |
|
Depressed nasal bridge, Rhizomelia, Short nasal bridge, Short long bone, Spinal canal stenosis, P... |
ORPHA:15 |
Camptodactyly Syndrome, Guadalajara, Type I |
|
High palate, Horizontal sacrum, Depressed nasal bridge, Short nose, Twelfth rib hypoplasia, Intra... |
OMIM:211910 |
Frontofacionasal Dysplasia |
|
Ankyloblepharon, Absent inner eyelashes, S-shaped palpebral fissures, Microcornea, Bifid nose, Te... |
OMIM:229400 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Hypoplastic sacrum, Abnormality of the dentition, Cone-shaped epiphysis, Osteopenia, Broad nasal ... |
OMIM:614813 |
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities |
|
Wide mouth, Everted lower lip vermilion, Retrognathia, Short stature, Long philtrum, Joint hyperm... |
OMIM:619595 |
Oculodentodigital Dysplasia |
|
Cleft palate, Carious teeth, Short nose, Umbilical hernia, Mandibular prognathia, Abnormal metaph... |
ORPHA:2710 |
3P25.3 Microdeletion Syndrome |
|
Cleft palate, Depressed nasal bridge, 2-3 finger syndactyly, Short philtrum, Tapered finger, Broa... |
ORPHA:435638 |
Teebi Hypertelorism Syndrome 2 |
|
High palate, Wide anterior fontanel, Clinodactyly of the 5th finger, Cleft palate, Everted lower ... |
OMIM:619736 |
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation |
|
Thick upper lip vermilion, Cleft palate, Abnormality of the dentition, Short philtrum, Mandibular... |
OMIM:226440 |
Intellectual Developmental Disorder, X-Linked 58 |
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Dental malocclusion, Short philtrum |
OMIM:300210 |
Ectodermal Dysplasia/Short Stature Syndrome |
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Enamel hypoplasia, Hypodontia, Short stature |
OMIM:616029 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
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Beaking of vertebral bodies, Kyphoscoliosis, Joint stiffness, Hypoplastic ilia, Platyspondyly, Tr... |
OMIM:616583 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
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Coxa vara, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound of bone in central and posterior por... |
OMIM:313400 |
Femoral-Facial Syndrome |
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Cleft palate, Radioulnar synostosis, Abnormality of fibula morphology, Short nose, Vertebral segm... |
ORPHA:1988 |
Distal Trisomy 18Q |
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High palate, Clinodactyly of the 5th finger, Arachnodactyly, Micrognathia, Camptodactyly of finge... |
ORPHA:1716 |
Intellectual Developmental Disorder, Autosomal Recessive 45 |
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Bulbous nose, Deeply set eye, Thick eyebrow, Upslanted palpebral fissure, Downslanted palpebral f... |
OMIM:615979 |
Scheie Syndrome |
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Spondylolisthesis, Depressed nasal bridge, Short neck, Genu valgum, Wide nose, Mandibular prognathia |
OMIM:607016 |
Developmental Dysplasia Of The Hip 2 |
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Hip osteoarthritis, Coxa valga, Hip dysplasia, Arthritis |
OMIM:615612 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
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Malar flattening, Craniosynostosis, Thin vermilion border, Micrognathia, Depressed nasal bridge, ... |
ORPHA:171839 |
Microphthalmia, Isolated, With Coloboma 9 |
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Microcornea, Iris coloboma, Narrow palpebral fissure, Ocular anterior segment dysgenesis, Hyperte... |
OMIM:615145 |
Anauxetic Dysplasia 3 |
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Femoral bowing, Depressed nasal bridge, Platyspondyly, Genu valgum, Hip subluxation, Midface retr... |
OMIM:618853 |
Kohlschutter-Tonz Syndrome |
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Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
Malan Syndrome |
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Gingival overgrowth, Narrow mouth, Everted lower lip vermilion, Retrognathia, Scoliosis, Advanced... |
OMIM:614753 |
Osteoarthritis Susceptibility 3 |
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Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthritis, Osteoarthrit... |
OMIM:607850 |
Fanconi Anemia, Complementation Group S |
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Thick upper lip vermilion, Dental malocclusion, Failure to thrive, Narrow palate, Short stature, ... |
OMIM:617883 |
Acrocraniofacial Dysostosis |
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Oxycephaly, Cleft palate, Craniosynostosis, Short stature, Short 1st metacarpal, Micrognathia, Ab... |
OMIM:201050 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
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Kyphosis, Bulbous nose, Brachycephaly, Postaxial polydactyly, Micrognathia, Depressed nasal bridg... |
OMIM:615761 |
Familial Avascular Necrosis Of Femoral Head |
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Hip osteoarthritis, Flattened femoral head, Abnormal femoral neck/head morphology, Limited hip mo... |
ORPHA:86820 |
Achondrogenesis |
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Severe short stature, Inguinal hernia, Micrognathia, Short neck, Long philtrum, Abnormality of bo... |
ORPHA:932 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
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Slender build, Kyphosis, High palate, Scoliosis, Hypoplasia of the maxilla, Mandibular prognathia... |
OMIM:300676 |
Burn-Mckeown Syndrome |
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Short palpebral fissure, Bilateral choanal atresia, Short nose, Hypertelorism, Prominent nasal br... |
ORPHA:1200 |
Osteogenesis Imperfecta, Type I |
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Otosclerosis, Recurrent fractures, Dentinogenesis imperfecta, Biconcave flattened vertebrae, Femo... |
OMIM:166200 |
Goldberg-Shprintzen Megacolon Syndrome |
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Sparse eyebrow, Iris coloboma, Hypertelorism, Wide nasal bridge, Ptosis |
ORPHA:66629 |
Harel-Yoon Syndrome |
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Micrognathia, Scoliosis, Frontal bossing, Short nose, Mandibular prognathia, Hip dysplasia |
OMIM:617183 |
Cranioectodermal Dysplasia 1 |
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High palate, Microdontia, Sagittal craniosynostosis, Rhizomelia, Scaphocephaly, Short distal phal... |
OMIM:218330 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
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Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Gloss... |
ORPHA:93346 |
Alg2-Cdg |
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Downslanted palpebral fissures, Epicanthus, Iris coloboma, Cataract, Wide nasal bridge |
ORPHA:79326 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
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Abnormal palate morphology, Convex nasal ridge, Malar flattening, Brachydactyly, Abnormal form of... |
ORPHA:93262 |
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies |
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High, narrow palate, Swan neck-like deformities of the fingers, Everted lower lip vermilion, Low ... |
OMIM:619880 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
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Amelogenesis imperfecta |
ORPHA:79129 |
Horizontal Gaze Palsy With Progressive Scoliosis |
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Kyphosis, Short neck, Scoliosis |
ORPHA:2744 |
Gm1-Gangliosidosis, Type Iii |
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Kyphosis, Short stature, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Hypoplas... |
OMIM:230650 |
Fibrochondrogenesis 2 |
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Metaphyseal cupping, Malar flattening, Short ribs, Hypoplastic ilia, Metaphyseal widening, Microg... |
OMIM:614524 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
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Small hand, Mandibular prognathia, Long philtrum |
OMIM:616269 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
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Dolichocephaly, Pointed chin, Patellar subluxation, Scaphocephaly, Mandibular prognathia |
OMIM:248000 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
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Short distal phalanx of finger, Dental malocclusion, Multiple joint contractures, Thoracic scolio... |
ORPHA:2959 |
Marshall-Smith Syndrome |
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Failure to thrive, Gingival overgrowth, Craniosynostosis, Retrognathia, Reduced bone mineral dens... |
ORPHA:561 |
Faciocardiomelic Syndrome |
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Dental malocclusion, Wide mouth, Micrognathia, Hyperplasia of the maxilla, Osteopenia, Long philt... |
OMIM:612731 |
Biemond Syndrome Ii |
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Iris coloboma |
OMIM:210350 |
Amelogenesis Imperfecta, Type Iiib |
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Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
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Wide mouth, Bulbous nose, Depressed nasal ridge, Hemivertebrae, Microdontia, Short nose, Sandal g... |
OMIM:156200 |
Acrocallosal Syndrome |
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High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Tapered finger, Short no... |
OMIM:200990 |
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus |
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Enamel hypoplasia, Severe short stature |
OMIM:202900 |
Baraitser-Winter Syndrome 1 |
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Long palpebral fissure, Epicanthus, Iris coloboma, Short nose, Anteverted nares, Hypertelorism, H... |
OMIM:243310 |
Dysplasia Epiphysealis Hemimelica |
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Flattened femoral head, Abnormality of femur morphology, Joint stiffness, Abnormal femoral neck m... |
ORPHA:1822 |
Whistling Face Syndrome, Recessive Form |
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High palate, Kyphoscoliosis, Narrow mouth, Malar flattening, Inguinal hernia, Micrognathia, Short... |
OMIM:277720 |
Fetal Akinesia Deformation Sequence 4 |
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High palate, Kyphosis, Flexion contracture, Retrognathia, Micrognathia, Short neck, Camptodactyly... |
OMIM:618393 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
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Kyphosis, Anodontia, Everted lower lip vermilion, Short stature, Oligodontia, Scoliosis, Tapered ... |
ORPHA:276630 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
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Decreased body weight, Short stature, Small for gestational age, Hypoplasia of the maxilla, Mandi... |
ORPHA:93950 |
Orofaciodigital Syndrome Type 5 |
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Accessory oral frenulum, Supernumerary tooth, High, narrow palate, Ectopic accessory finger-like ... |
ORPHA:2919 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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High palate, Acroosteolysis of distal phalanges (feet), Short nose, Hypoplasia of teeth, Loss of ... |
OMIM:608612 |
Carabelli Anomaly Of Maxillary Molar Teeth |
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Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors |
OMIM:114700 |
Osteomesopyknosis |
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Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
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Scoliosis, Paralysis |
OMIM:605285 |
Coffin-Lowry Syndrome |
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High palate, Wide mouth, Depressed nasal bridge, Broad finger, Delayed eruption of teeth, Tapered... |
ORPHA:192 |
Urban-Rogers-Meyer Syndrome |
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Kyphosis, Recurrent fractures, Clinodactyly of the 5th finger, Short stature, Micrognathia, Campt... |
ORPHA:3409 |
Spondyloenchondrodysplasia |
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Short distal phalanx of finger, Bowing of the legs, Metaphyseal dysplasia, Dental malocclusion, K... |
ORPHA:1855 |
Autosomal Recessive Hypophosphatemic Rickets |
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Craniosynostosis, Delayed eruption of teeth, Polyarticular arthritis, Sclerotic vertebral endplat... |
ORPHA:289176 |
Xp22.13P22.2 Duplication Syndrome |
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High palate, Flared nostrils, 2-3 toe syndactyly, Congenital diaphragmatic hernia, Short stature,... |
ORPHA:284180 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
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Iris coloboma, Palpebral edema, Ectopia lentis, Ptosis |
ORPHA:1259 |
Laryngeal Adductor Paralysis |
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Paralysis |
OMIM:150270 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
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Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:603641 |
Ohdo Syndrome |
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