Dens In Dente And Palatal Invaginations |
|
Abnormality of the dentition, Dens in dente |
OMIM:125300 |
Dens Evaginatus |
|
Talon cusp, Abnormality of the dentition |
OMIM:125280 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar |
OMIM:114700 |
Taurodontism, Microdontia, And Dens Invaginatus |
|
Dens in dente, Pulp calcification, Taurodontia, Microdontia |
OMIM:313490 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Regional Odontodysplasia |
|
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... |
ORPHA:83450 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2027 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Alveolar process hypoplasia, Hypodontia, Maxillozygomatic hypoplasia, Malar flattening, Delayed e... |
ORPHA:2972 |
Fused Mandibular Incisors |
|
Abnormality of the dentition, Advanced eruption of teeth |
ORPHA:2287 |
Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia |
OMIM:265430 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta |
OMIM:615887 |
Hypertrichosis Lanuginosa Congenita |
|
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2222 |
Immunodeficiency 33 |
|
Hypodontia, Increased circulating IgA level, Delayed eruption of teeth, Conical tooth, Decreased ... |
OMIM:300636 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
Amelogenesis Imperfecta |
|
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... |
ORPHA:88661 |
Dentin Dysplasia, Type I |
|
Microdontia, Periapical bone loss, Pulp obliteration, Abnormality of dental morphology, Taurodont... |
OMIM:125400 |
Oligodontia |
|
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... |
ORPHA:99798 |
Failure Of Tooth Eruption, Primary |
|
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth |
OMIM:125350 |
Femur-Fibula-Ulna Complex |
|
Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop... |
ORPHA:2019 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short metatarsal, Rhizomelia, Coxa vara, Short metacarpal, Short humerus, Deformed humeral heads,... |
OMIM:601438 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis i... |
OMIM:204700 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Chromosome 3Q29 Duplication Syndrome |
|
Short nose, Wide nasal bridge, Abnormally large globe, Macrocephaly, Bulbous nose, Obesity, Micro... |
OMIM:611936 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Short humerus, Short femur, Epiphyseal stippling |
OMIM:600121 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth |
OMIM:183300 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Amelogenesis imperfecta, Increased overbite, Enamel hypoplasia |
OMIM:617297 |
Anonychia-Microcephaly Syndrome |
|
Carious teeth, Abnormality of the dentition |
ORPHA:1094 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
Amelogenesis Imperfecta, Type Ia |
|
Taurodontia, Generalized microdontia, Amelogenesis imperfecta |
OMIM:104530 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Acheiropodia |
|
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... |
ORPHA:931 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Pulmonary hypoplasia |
OMIM:615228 |
Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Alveolar process hypoplasia, Maxillozygomatic hypoplasia, Eruption failure, Multiple non-erupting... |
OMIM:273050 |
Acrocapitofemoral Dysplasia |
|
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metaphysis, Hip dysplasia, Short ... |
OMIM:619598 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
High palate, Gingival overgrowth, Delayed eruption of teeth, Abnormality of dental morphology, Ex... |
ORPHA:2025 |
Fibromatosis, Gingival, With Distinctive Facies |
|
Irregular dentition, High palate, Delayed eruption of permanent teeth, Everted lower lip vermilio... |
OMIM:228560 |
Acromesomelic Dysplasia 2A |
|
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... |
OMIM:200700 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Hypodontia, Delayed eruption of teeth, Conical tooth, Abnormality of dental morphology, Everted l... |
ORPHA:2228 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Mueller-Weiss Syndrome |
|
Sclerosis of foot bone, Abnormality of the os naviculare pedis, Limitation of movement at ankles,... |
ORPHA:566943 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis imperfecta |
OMIM:612529 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Abnormal mandible co... |
ORPHA:477781 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Pulmonary hypoplasia |
OMIM:614096 |
Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Abnormality of the third metatarsal bone, Chondritis, Osteochondrosis, Ar... |
ORPHA:564003 |
Rutherfurd Syndrome |
|
Delayed eruption of primary teeth, Failure of eruption of permanent teeth |
OMIM:180900 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Amelogenesis imperfecta |
OMIM:617217 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2026 |
Acheiropody |
|
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... |
OMIM:200500 |
Cleft Palate, Deafness, And Oligodontia |
|
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition |
OMIM:216300 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Short lower limbs, Gait disturbance, Genu varum, Metaphyseal dysplasia, Abnormality of epiphysis ... |
ORPHA:2501 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Osteochondrosis Of The Tarsal Bone |
|
Tarsal stippling, Abnormal tarsal ossification, Chondritis, Tarsal sclerosis, Arthritis, Flatteni... |
ORPHA:563991 |
Pseudoachondroplasia |
|
Genu varum, Abnormal form of the vertebral bodies, Metaphyseal irregularity, Abnormality of femor... |
ORPHA:750 |
Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Anterior open-bite malocclusion, Microdontia, Amelogenesis imperfecta |
OMIM:301200 |
Pyle Disease |
|
Carious teeth, Hypoplastic frontal sinuses, Mandibular prognathia, Delayed eruption of teeth, Abs... |
OMIM:265900 |
Thymic Aplasia With Fetal Death |
|
Pulmonary hypoplasia |
OMIM:274210 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Abnormality of the elbow, Split hand, Abnormality of the wrist, Postaxial hand polydactyly, Short... |
ORPHA:2491 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Amelogenesis imperfecta, Dental malocclusion |
OMIM:130900 |
Omodysplasia 2 |
|
Limited elbow flexion, Dislocated radial head, Hypoplastic distal humeri, Rhizomelic arm shorteni... |
OMIM:164745 |
Isotretinoin Syndrome |
|
Abnormality of the outer ear, Biparietal narrowing, Micrognathia, Microtia |
ORPHA:2305 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Postnatal macrocephaly, Frontal bossing, Microtia, Unsteady gait, Gait ataxia, Deeply set eye |
OMIM:618158 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Pycnodysostosis |
|
Carious teeth, Micrognathia, Hypodontia, Delayed eruption of permanent teeth, Absent frontal sinu... |
OMIM:265800 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... |
ORPHA:83451 |
Lowry-Maclean Syndrome |
|
Cleft palate, Delayed eruption of teeth |
OMIM:600252 |
Central Core Disease Of Muscle |
|
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... |
OMIM:117000 |
Gne Myopathy |
|
Abnormal right hemidiaphragm morphology, Limited shoulder movement, Lower limb amyotrophy, Hip fl... |
ORPHA:602 |
17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Micrognathia, High palate, Short philtrum, Failure to thrive, Short nose, Malar f... |
ORPHA:217340 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Periodontal Ehlers-Danlos Syndrome |
|
Micrognathia, Microdontia, Gingival overgrowth, Periodontitis, Joint hyperflexibility, Hyperexten... |
ORPHA:75392 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Broad femoral neck, Small epiphyses, Discolored lateral incisors, Oligodontia, Tapered finger, Me... |
OMIM:601668 |
Rubinstein-Taybi Syndrome 2 |
|
Carious teeth, Prominent nose, Micrognathia, High palate, Convex nasal ridge, Narrow palate, Incr... |
OMIM:613684 |
Rafiq Syndrome |
|
Underdeveloped nasolabial fold, Prominent nose, Flat occiput, Smooth philtrum, Cutis laxa, Short ... |
OMIM:614202 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Periapical bone loss, Anterior open-bite malocclusion, Dentinogenesis imperfecta, Dental enamel p... |
OMIM:125500 |
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair |
|
Taurodontia, Oligodontia |
OMIM:272980 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Advanced eruption of teeth, Delayed eruption of teeth, Abnorma... |
ORPHA:1028 |
Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
Cleft Lip/Palate |
|
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... |
ORPHA:199306 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Optic atrophy, Thickened calvaria, Brachycephaly, Craniosynostosis, Facial palsy, Broad jaw, Hype... |
ORPHA:178377 |
Cleft Palate, Isolated |
|
Micrognathia, Cleft palate, Gingival overgrowth, Increased overbite, Anterior open-bite malocclusion |
OMIM:119540 |
Fryns Macrocephaly |
|
Macrodontia of permanent maxillary central incisor, Short philtrum, Wide mouth, Everted lower lip... |
OMIM:600302 |
Spondyloepiphyseal Dysplasia Tarda |
|
Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Abnormal ... |
ORPHA:93284 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Joint contracture of the hand, Delayed eruption of teeth, Camptodactyly of finger, Short phalanx ... |
OMIM:612350 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Short nose, Thin upper lip vermilion, Anteverted nares, Triangular mouth, Micrognathia, Depressed... |
OMIM:616331 |
Dentinogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Hypocalcification of dental enamel, Pulp obliteration, G... |
ORPHA:49042 |
Otodental Syndrome |
|
Carious teeth, Pulp calcification, Long philtrum, Odontoma, Abnormal dental enamel morphology, Gi... |
ORPHA:2791 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hypodontia, Delayed eruption of teeth |
ORPHA:63442 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Cleft palate |
OMIM:217150 |
Amelogenesis Imperfecta, Type Iv |
|
Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104510 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Hypodontia, Delayed eruption of teeth, Amelogenesis imperfecta |
OMIM:615905 |
Lethal Osteosclerotic Bone Dysplasia |
|
Micrognathia, Large fontanelles, Mandibular aplasia, Posteriorly rotated ears, Low-set ears, Prop... |
ORPHA:1832 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... |
ORPHA:609 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Quad... |
OMIM:254110 |
Isolated Brachycephaly |
|
Brachycephaly, Hypertelorism, Hearing impairment, Proptosis, Midface retrusion |
ORPHA:35099 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Spastic gait, Hypertelorism, Macrotia, Abnormality of calvarial morphology... |
ORPHA:3079 |
Hemifacial Atrophy, Progressive |
|
Short mandibular rami, Tongue atrophy, Delayed eruption of teeth, Dental malocclusion |
OMIM:141300 |
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis |
|
Shovel-shaped maxillary central incisors, Increased overbite, Enamel hypoplasia, Dental crowding |
OMIM:600907 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypomineralization, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:614832 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Skeletal muscle atrophy, Abnormality of the knee, Dystrophic fingernails, Foot acroosteolysis, Ta... |
ORPHA:970 |
Isolated Cloverleaf Skull Syndrome |
|
Craniosynostosis, Malar flattening, Low-set, posteriorly rotated ears, Proptosis, Midface retrusion |
ORPHA:2343 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... |
OMIM:601560 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Depressed nasal bridge, Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones,... |
ORPHA:40 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Genu recurvatum, Proximal... |
ORPHA:206549 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth |
ORPHA:71267 |
Clark-Baraitser syndrome |
|
Thick lower lip vermilion, Broad nasal tip, Exaggerated median tongue furrow, Tapered finger, Max... |
OMIM:300602 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle... |
OMIM:608423 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Pulmonary hypoplasia, Abnormal lung lobation |
ORPHA:2631 |
Macrocephaly, Benign Familial |
|
Frontal bossing, Biparietal narrowing, Dolichocephaly, Macrocephaly |
OMIM:153470 |
Pycnodysostosis |
|
Carious teeth, Midface retrusion, Obtuse angle of mandible, Increased bone mineral density, Hypop... |
ORPHA:763 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Macular atrophy, Optic disc pallor, Micrognathia, Retinopathy, Proptosis, Microcep... |
OMIM:616171 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Hypodontia, Micrognathia, Abnormality of primary molar morphology, Gingival bleeding, Delayed clo... |
OMIM:225410 |
Muenke Syndrome |
|
Plagiocephaly, Short middle phalanx of finger, High palate, Midface retrusion, Capitate-hamate fu... |
OMIM:602849 |
Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Short columella, Short nose, Short distal phalanx of finger, Dental maloc... |
OMIM:155050 |
Desbuquois Dysplasia 1 |
|
Monkey wrench femoral neck, Genu varum, Midface retrusion, Talipes equinovarus, Short metatarsal,... |
OMIM:251450 |
Microcephaly 6, Primary, Autosomal Recessive |
|
Hypertelorism, Microcephaly, Microtia |
OMIM:608393 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Amelogenesis Imperfecta, Type Iiic |
|
Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion, Hypocalcification of de... |
OMIM:618386 |
Amelogenesis Imperfecta, Type Ic |
|
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Anterior open-bite malocclusi... |
OMIM:204650 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Genu valgum, Deviation of finger, Coxa vara, Short metacarpal, Short humerus, Deforme... |
ORPHA:2831 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Abnormal ilium morphology, Irregularity of vertebral bodies, Abnormal hip joint morphology, Genu ... |
ORPHA:1159 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Knee dislocation, Small epiphyses, Hip contracture, Coronal cleft vertebrae, Irregular vertebral ... |
OMIM:618363 |
Osteogenesis Imperfecta, Type Xii |
|
Micrognathia, High palate, Malar flattening, Delayed eruption of teeth, Narrow mouth |
OMIM:613849 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Abnormal dental enamel morphology, Fifth finger distal phalanx clinodactyly, Delayed eruption of ... |
OMIM:257850 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Atkin-Flaitz Syndrome |
|
Thick lower lip vermilion, Broad nasal tip, Exaggerated median tongue furrow, Tapered finger, Max... |
OMIM:300431 |
Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3032 |
Amelogenesis Imperfecta, Type Ih |
|
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Dental enamel pits, ... |
OMIM:616221 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Gait disturbance, Micrognathia, Cachexia, Wrist swelling, Abnormality of epiphysis morphology, Me... |
ORPHA:2774 |
Dentin Dysplasia |
|
Abnormality of dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Plagiocephaly, Prominent nose, Failure to thrive in infancy, Cachexia, Hip contracture, Tapered f... |
OMIM:616801 |
Metaphyseal Acroscyphodysplasia |
|
Metaphyseal cupping, Genu varum, Tibial bowing, Hypoplasia of the odontoid process, Short finger,... |
OMIM:250215 |
Tubular Aggregate Myopathy |
|
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre... |
ORPHA:2593 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Rimmed vacuol... |
OMIM:618655 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Abnormality of the pinna, Posteriorly rotated ears, Biparietal narrowing, Hypoplasia of the maxil... |
ORPHA:228396 |
Angioosteohypotrophic Syndrome |
|
Abnormality of the hand, Upper limb undergrowth, Hypertrophy of the upper limb, Hypoplasia of the... |
ORPHA:75508 |
Dentin Dysplasia, Type Ii |
|
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification |
OMIM:125420 |
Mental Retardation, X-Linked 91 |
|
High palate, Short nose, Small hand, Cubitus valgus, Short 5th finger, Short foot, Obesity, Clino... |
OMIM:300577 |
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
|
Hypoplasia of the maxilla, Craniosynostosis, Proptosis, Microcephaly |
OMIM:608432 |
Symbrachydactyly Of Hands And Feet |
|
Abnormality of the ulna, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, A... |
ORPHA:1570 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Enlarged epiphyses, Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly, Obesity |
OMIM:264010 |
Ck Syndrome |
|
Almond-shaped palpebral fissure, Upslanted palpebral fissure, Slender build, Epicanthus, Abnormal... |
OMIM:300831 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Oligodontia, Short nose, Hypoplasia... |
ORPHA:363417 |
Chondroectodermal Dysplasia With Night Blindness |
|
Gait disturbance, Metaphyseal dysplasia, Abnormal hair morphology, Abnormality of the knee, Fract... |
ORPHA:319195 |
Mucolipidosis Type Iv |
|
Gait disturbance, Abnormality of retinal pigmentation, Ataxia, EEG abnormality, Retinopathy, Bipa... |
ORPHA:578 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Hirsutism, Rocker bottom foot, Second metatarsal posteriorly placed, Failure to thrive, Kyphoscol... |
OMIM:214150 |
Catifa Syndrome |
|
Cleft palate, Long philtrum, Tooth malposition, Delayed eruption of teeth, Cleft lip, Increased o... |
OMIM:618761 |
Cherubism |
|
Optic atrophy, Abnormal mandible morphology, Broad jaw, Proptosis |
ORPHA:184 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Carious teeth, High palate, Cutis laxa, Long philtrum, Failure to thrive, Short nose, Malar flatt... |
OMIM:219200 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Shoulder girdle muscle atrophy, Enlargement of the ankles, Limitation of movement at ankles, Shou... |
ORPHA:437572 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Large earlobe, Conductive hearing impairment, Micrognathia, Morphological abnormality of the midd... |
ORPHA:79113 |
Vacuolar Neuromyopathy |
|
Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centrally nucleated skeleta... |
OMIM:601846 |
Tetraploidy |
|
Biparietal narrowing, Micrognathia, Hypoplasia of the ear cartilage, Microcephaly |
ORPHA:3305 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Hypodontia, Agenesis of lateral incisor, Oligodontia, Selective tooth agenesis, Agenesis of premo... |
OMIM:313500 |
Hereditary Myopathy With Early Respiratory Failure |
|
Necrotizing myopathy, Muscle fiber hypertrophy, Skeletal muscle atrophy, Internally nucleated ske... |
ORPHA:178464 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m... |
ORPHA:611 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Large fontanelles, Failure to thrive, Bowing of the long bones, Malar flattening, Congenital hip ... |
OMIM:612940 |
C Syndrome |
|
Accessory oral frenulum, Short nose, Fused sternal ossification centers, Patent ductus arteriosus... |
OMIM:211750 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormality of the vertebral column, Abnormal intervertebral disk morphology, Abnormality of the ... |
ORPHA:99642 |
Man1B1-Cdg |
|
Underdeveloped nasolabial fold, Prominent nose, 2-3 toe syndactyly, Smooth philtrum, Eclabion, Sh... |
ORPHA:397941 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Limited elbow flexion, Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness, L... |
ORPHA:266 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
ORPHA:3033 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Spondylolysis, Os odontoideum, Limb muscle weakness, Spondylolisthesis at L5-S1, Atlantoaxial ins... |
OMIM:600561 |
Peho Syndrome |
|
Optic atrophy, Midface retrusion, Malar flattening, Arthrogryposis multiplex congenita, Macrotia,... |
ORPHA:2836 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Thickened cortex of long bones, Abnormality of pelvic girdle bone morphology, Hyperostosis, Metat... |
OMIM:144750 |
Auriculocondylar Syndrome 2 |
|
Mandibular condyle aplasia, Ankylosis, Micrognathia, Cleft palate, Glossoptosis, Short mandibular... |
OMIM:614669 |
Myopathy, Myosin Storage, Autosomal Dominant |
|
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centra... |
OMIM:608358 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
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Talipes equinovarus, Swan neck-like deformities of the fingers, Metaphyseal irregularity, Narrow ... |
OMIM:616716 |
Mcdonough Syndrome |
|
Abnormal palate morphology, Micrognathia, Cachexia, Underdeveloped nasal alae, Short philtrum, Op... |
ORPHA:2471 |
Progressive Pseudorheumatoid Dysplasia |
|
Genu varum, Joint contracture of the hand, Camptodactyly of finger, Enlargement of the proximal f... |
OMIM:208230 |
Nemaline Myopathy 2 |
|
Slender build, Calf muscle pseudohypertrophy, Gait disturbance, Weakness of facial musculature, A... |
OMIM:256030 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Sensorineural hearing impairment, Proptosis, Microcephaly |
OMIM:604804 |
Achondroplasia |
|
Limited hip extension, Genu varum, Depressed nasal bridge, Lumbar kyphosis in infancy, Spinal ste... |
OMIM:100800 |
Hypochondroplasia |
|
Genu varum, Frontal bossing, Limited elbow extension, Abnormality of pelvic girdle bone morpholog... |
OMIM:146000 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
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Hypertelorism, Abnormal dental enamel morphology, Low-set, posteriorly rotated ears, Macrotia, Tu... |
ORPHA:1005 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Hernia of the abdominal wall, Conductive hearing impairment, Overfolded helix, Abnormality of the... |
ORPHA:3216 |
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Hand muscle weakness, Shoulder girdle muscle weakness, Distal lower limb amyotrophy, Waddling gai... |
ORPHA:363454 |
Anauxetic Dysplasia 3 |
|
Plagiocephaly, Short middle phalanx of finger, Depressed nasal bridge, Cutis laxa, Oligodontia, M... |
OMIM:618853 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Anterior plagiocephaly, Short nose, Abnormality of cranial sutures, Slender finger, Anisospondyly... |
ORPHA:163649 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Panacinar emphysema |
OMIM:613490 |
Larsen-Like Syndrome |
|
Cleft palate, Radial deviation of the 4th finger, Absent nasal bridge, Talipes equinovarus, Brach... |
OMIM:608545 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Toe syndactyly, High palate, Depressed nasal bridge, Open bite, Brachycephaly, Man... |
ORPHA:1327 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Decreased circulating antibody level |
ORPHA:99811 |
Myopathy, Scapulohumeroperoneal |
|
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... |
OMIM:616852 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Talipes equinovarus, Patent ductus arteriosus, Thin upper lip vermilion, Anteverted nares, Plagio... |
OMIM:619293 |
Hypophosphatasia, Childhood |
|
Carious teeth, Craniosynostosis, Frontal bossing, Waddling gait, Proptosis, Dolichocephaly |
OMIM:241510 |
Prieto X-Linked Mental Retardation Syndrome |
|
Prominent nose, Talipes equinovarus, Ptosis, Patellar subluxation, Osteoporosis, Epicanthus, Radi... |
OMIM:309610 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Spinal muscular atrophy,... |
OMIM:158600 |
Intellectual Disability, Birk-Barel Type |
|
Contractures involving the joints of the feet, High, narrow palate, Micrognathia, Broad nasal tip... |
ORPHA:166108 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Flexion contracture of toe, Abnormality of epiphysis morphology, Upslanted palpeb... |
ORPHA:3409 |
Mucolipidosis Type Iii |
|
Abnormal form of the vertebral bodies, Hypoplastic inferior ilia, Acne, Reduced bone mineral dens... |
ORPHA:577 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Talipes equinovarus, Achilles tendon contracture, Knee flexion contracture, Hip ... |
OMIM:615290 |
Myofibrillar Myopathy 11 |
|
Z-band streaming, Generalized amyotrophy, Shoulder girdle muscle atrophy, EMG: myopathic abnormal... |
OMIM:619178 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... |
ORPHA:174 |
Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplastic iliac body, Sparse hair, Hypoplasia of the femoral head, Small... |
OMIM:617396 |
Alpha-Mannosidosis |
|
Widely spaced teeth, Depressed nasal bridge, Open bite, Macroglossia, Mandibular prognathia, Bowi... |
ORPHA:61 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Trigonocephaly, Hypertelorism, Low-set, posteriorly rotated ears, Frontal bossing, Abnormal retin... |
ORPHA:2994 |
Maxillonasal Dysplasia |
|
Depressed nasal ridge, Cleft palate, Depressed nasal bridge, Microdontia, Open bite, Midface retr... |
ORPHA:1248 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Narrow pelvis bone, Arthrogryposis multiplex congenita, Knee flexion contracture... |
OMIM:602484 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormality of the vertebral column, Cervical platyspondyly, Abnormal ilium morphology, Genu varu... |
ORPHA:93314 |
Shashi-Pena Syndrome |
|
Hypertelorism, Posteriorly rotated ears, Macrocephaly, Proptosis, Retrognathia, Low-set ears |
OMIM:617190 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
2-3 toe syndactyly, Micropenis, Bulbous nose, Short toe, 4-5 toe syndactyly, Frontal balding, Pat... |
ORPHA:3041 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Nonprogressive muscular atrophy, Hip contracture, Talipes equinovarus, Proximal lower limb amyotr... |
OMIM:600175 |
Microphthalmia, Syndromic 12 |
|
Pulmonary hypoplasia |
OMIM:615524 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Toluene Embryopathy |
|
Micrognathia, Hypoplasia of the zygomatic bone, Low-set ears, Biparietal narrowing, Protruding ea... |
ORPHA:1920 |
Achondroplasia |
|
Short middle phalanx of finger, Cervical spinal canal stenosis, Limited elbow extension, Antevert... |
ORPHA:15 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Everted upper lip vermilion, Microdontia, Delayed eruption of teeth, Everted lower lip vermilion |
ORPHA:181 |
Mulibrey Nanism |
|
Hypodontia, Depressed nasal bridge, Hypoplastic frontal sinuses, Thickened cortex of long bones, ... |
OMIM:253250 |
Hydrocephalus With Associated Malformations |
|
Pulmonary hypoplasia |
OMIM:236640 |
Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Pulmonary sequestration, Emphysema |
ORPHA:122 |
Neurologic Disease, Infantile Multisystem, With Osseous Fragility |
|
Skeletal muscle atrophy, Osteoporosis, Hip dislocation, Hip subluxation, Recurrent fractures |
OMIM:256720 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Micrognathia, Abnormality of calvarial morphology, Proptosis, Camptodactyly of finger, Biparietal... |
ORPHA:1323 |
Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Short nose, Microretrognathia, Frontal bossing, Long philtrum |
OMIM:218010 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Abnormality of the ulna, Abnormality of the humerus, Aplasia/Hypoplasia of the radius, Synostosis... |
ORPHA:1275 |
Progeroid Syndrome, Petty Type |
|
Cutis laxa, Mandibular prognathia, Failure to thrive, Redundant skin, Decreased skull ossificatio... |
ORPHA:2963 |
Warburg Micro Syndrome 1 |
|
Hypertrichosis, Ptosis, Failure to thrive, Kyphoscoliosis, Osteoporosis, External genital hypopla... |
OMIM:600118 |
Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:3346 |
Eiken Syndrome |
|
Limited elbow flexion, Abnormal acetabulum morphology, Thin bony cortex, Narrow pelvis bone, Cubi... |
ORPHA:79106 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Ankle flexion contracture, Scapular muscle atrophy, Congenital finger flexion contractures, Hamst... |
ORPHA:267 |
Larsen-Like Syndrome, Lethal Type |
|
Pulmonary hypoplasia |
OMIM:245650 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Prominent nose, Ptosis, Patellar subluxation, Osteoporosis, Epicanthus, Coxa valga, Finger clinod... |
ORPHA:2958 |
Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, D... |
OMIM:605820 |
Osteogenesis Imperfecta, Type Xiii |
|
Skeletal muscle atrophy, Kyphoscoliosis, Osteoporosis, Long eyelashes, Dislocated radial head, Wo... |
OMIM:614856 |
Congenital unilateral pulmonary hypoplasia |
|
Abnormality of the pulmonary artery, Aplasia/Hypoplasia of the lungs, Anomalous pulmonary venous ... |
ORPHA:2258 |
Hall-Riggs Mental Retardation Syndrome |
|
Prominent nose, Metaphyseal dysplasia, Depressed nasal bridge, Irregular vertebral endplates, Fai... |
OMIM:234250 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... |
OMIM:171480 |
Otodental Dysplasia |
|
Hypodontia, Pulp calcification, Taurodontia, Long philtrum |
OMIM:166750 |
Myopathy, Centronuclear, 1 |
|
Skeletal muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Flexion contracture, Cen... |
OMIM:160150 |
Ameloonychohypohidrotic Syndrome |
|
Yellow-brown discoloration of the teeth, Marked delay in eruption of permanent teeth, Hypocalcifi... |
OMIM:104570 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Metaphyseal dysplasia, Failure to thrive, Kyphoscoliosis, Osteoporosis, Epiphyseal dysplasia, Dia... |
OMIM:614727 |
Craniosynostosis And Dental Anomalies |
|
Brachycephaly, Trigonocephaly, Craniosynostosis, Supernumerary tooth, Sagittal craniosynostosis, ... |
OMIM:614188 |
Pseudoachondroplasia |
|
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... |
OMIM:177170 |
Ramon Syndrome |
|
Gingival fibromatosis, Narrow palate, Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:3019 |
Mental Retardation, Buenos Aires Type |
|
Carious teeth, Prominent nose, High palate, Wide mouth, Mandibular prognathia, Failure to thrive,... |
OMIM:249630 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Biparietal narrowing, Protruding ear, Microce... |
ORPHA:2518 |
Distal Trisomy 14Q |
|
Abnormal lung lobation |
ORPHA:1705 |
Hip Dysplasia, Beukes Type |
|
Abnormality of bone mineral density, Abnormality of epiphysis morphology, Kyphosis, Abnormality o... |
ORPHA:2114 |
Intermediate Osteopetrosis |
|
Abnormality of bone mineral density, Generalized osteosclerosis, Osteosclerosis of the base of th... |
ORPHA:210110 |
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet |
|
Broad metatarsal, Micrognathia, Brachycephaly, Trigonocephaly, Broad phalanx, Bifid nose, Bulbous... |
OMIM:275595 |
Tetrasomy 12P |
|
Cachexia, Long philtrum, Short nose, Thick upper lip vermilion, Delayed eruption of teeth, Abnorm... |
ORPHA:884 |
Brachyolmia Type 1, Hobaek Type |
|
Intervertebral space narrowing, Sclerotic foci of metaphyses of the elbow, Short iliac bones, Sho... |
OMIM:271530 |
Chromosome 18P Deletion Syndrome |
|
Dystonia, Micrognathia, High palate, Redundant neck skin, Small for gestational age, Tooth malpos... |
OMIM:146390 |
Bangstad Syndrome |
|
Abnormally large globe, Convex nasal ridge, Small for gestational age |
OMIM:210740 |
Myopathic Ehlers-Danlos Syndrome |
|
Talipes equinovarus, Joint contracture of the hand, Elbow flexion contracture, Contractures invol... |
ORPHA:536516 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Osteoporosis, Wormian bones, Frontal bossing, Joint hyperflexibility, Short distal phalanx of fin... |
ORPHA:2787 |
X-Linked Intellectual Disability, Cabezas Type |
|
Cubitus valgus, Abnormal hair pattern, Camptodactyly of finger, Toe syndactyly, Prominent nose, E... |
ORPHA:85293 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon, Abnormality of the pinna, Frontal bossing, Macrocephaly, Microtia, Low-set... |
OMIM:613603 |
Trichodentoosseous Syndrome |
|
Widely spaced teeth, Taurodontia, Microdontia |
OMIM:190320 |
Weaver Syndrome |
|
Micrognathia, Talipes equinovarus, Long philtrum, Large hands, Abnormality of the metaphysis, Dee... |
ORPHA:3447 |
Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Maxillary lateral incisor microdontia, Everted lower lip vermilion,... |
ORPHA:1193 |
Aphalangy With Hemivertebrae |
|
Pulmonary hypoplasia |
OMIM:207620 |
Atelosteogenesis, Type Ii |
|
Short greater sciatic notch, Increased intervertebral space, Short middle phalanx of finger, Tali... |
OMIM:256050 |
Holt-Oram Syndrome |
|
Short clavicles, Triphalangeal thumb, Phocomelia, Small thenar eminence, Aplasia of the ulna, Hyp... |
OMIM:142900 |
Three M Syndrome 1 |
|
Hypospadias, Hypoplastic pelvis, Depressed nasal bridge, Small for gestational age, Joint disloca... |
OMIM:273750 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Radial club hand, Aplasia/Hypoplasia of the thumb, Ulnar bowing, Asymmetric radial dysplasia, Abn... |
ORPHA:2878 |
Dysspondyloenchondromatosis |
|
Kyphoscoliosis, Generalized joint laxity, Joint dislocation, Platyspondyly, Metaphyseal enchondro... |
ORPHA:85198 |
Tricho-Dento-Osseous Syndrome |
|
Widely spaced teeth, Microdontia, Enamel hypomineralization, Agenesis of incisor, Taurodontia, De... |
ORPHA:3352 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... |
OMIM:609115 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Cachexia, Myopathy, Skeletal muscle atrophy, Spinal rigidity, Hyperlordosis, Li... |
ORPHA:157973 |
Christianson Syndrome |
|
Dystonia, Cachexia, Adducted thumb, Mandibular prognathia, Arthrogryposis multiplex congenita, Ab... |
ORPHA:85278 |
Odontochondrodysplasia |
|
Depressed nasal bridge, Cone-shaped epiphysis, Bowing of the long bones, Short nose, Abnormality ... |
ORPHA:166272 |
Myopathy, Congenital Proximal, With Minicore Lesions |
|
Minicore myopathy, Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated sk... |
OMIM:618823 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Gait disturbance, Upper limb undergrowth, Abnormal joint morphology, Abnormality of epiphysis mor... |
ORPHA:93351 |
Short Syndrome |
|
Enlarged epiphyses, Hypodontia, Micrognathia, Underdeveloped nasal alae, Small for gestational ag... |
OMIM:269880 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2141 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... |
OMIM:601954 |
20P12.3 Microdeletion Syndrome |
|
Hypertelorism, Malar flattening, Macrocephaly, Microtia, Hypoplasia of the maxilla, Thickened hel... |
ORPHA:261295 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Hypodontia, Delayed eruption of teeth |
ORPHA:1816 |
Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia |
ORPHA:2140 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
1Q44 Microdeletion Syndrome |
|
Micrognathia, Optic disc hypoplasia, Hypertelorism, Frontal bossing, Prominent metopic ridge, Bip... |
ORPHA:238769 |
Cranioectodermal Dysplasia |
|
Rhizomelia, Craniosynostosis, Osteoporosis, Abnormality of the metaphysis, Epicanthus, Finger syn... |
ORPHA:1515 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Short philtrum, Mandibular prognathia, Abnormal dental enamel morphology, Delayed eruption of tee... |
ORPHA:2325 |
Osteolysis Syndrome, Recessive |
|
Distal radial epiphyseal osteolysis, Broad nasal tip, Osteolytic defects of the middle phalanges ... |
OMIM:259610 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Triceps weakness, Generalized amyotrophy, Left ventricular hypertrophy, Muscular dystro... |
ORPHA:86812 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Micrognathia, Rhizomelia, Stippled calcification proximal humeral epiphyses, Short humerus, Abnor... |
OMIM:222765 |
Winchester Syndrome |
|
Arthropathy, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the fee... |
OMIM:277950 |
Trichorhinophalangeal Syndrome Type 2 |
|
Abnormal palate morphology, Long philtrum, Avascular necrosis of the capital femoral epiphysis, S... |
ORPHA:502 |
Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Talipes equinovarus, Generalized joint laxity, Congenital hip dislocation, Joint hypermobility, R... |
OMIM:130010 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Attention deficit hyperactivity disorder, Proptosis, Microcephaly, Hearing impairment |
OMIM:608716 |
Multiple Synostoses Syndrome 1 |
|
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... |
OMIM:186500 |
Lessel-Kreienkamp Syndrome |
|
Plagiocephaly, Wide nasal bridge, Patent ductus arteriosus, Attention deficit hyperactivity disor... |
OMIM:619149 |
Dentin Dysplasia With Sclerotic Bones |
|
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125440 |
6Q16 Microdeletion Syndrome |
|
Micrognathia, Macrocephaly, Retrognathia, Microtia, Broad-based gait, Low-set ears, Abnormal ear ... |
ORPHA:171829 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Ankle flexion contracture, Reduced muscle fiber alpha dystroglycan, Waddling gait, Limb-girdle mu... |
ORPHA:280333 |
Aredyld Syndrome |
|
Cachexia, Smooth philtrum, Mandibular prognathia, Abnormal dental enamel morphology, Advanced eru... |
ORPHA:1133 |
Hypochondroplasia |
|
Spinal canal stenosis, Genu varum, Abnormality of femur morphology, Abnormality of the elbow, Bow... |
ORPHA:429 |
Crouzon Disease |
|
Optic atrophy, Conductive hearing impairment, Brachycephaly, Hypertelorism, Hearing impairment, F... |
ORPHA:207 |
Extensor Tendons Of Finger Anomalies |
|
Osteoporosis, Skeletal muscle atrophy, Limitation of joint mobility, Camptodactyly of finger |
ORPHA:3294 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder girdle muscle atrophy, C... |
OMIM:613530 |
Bare Lymphocyte Syndrome, Type I |
|
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Nasal polyposis |
OMIM:604571 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Widely spaced teeth, Malar flattening, Dental malocclusion |
OMIM:616108 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Premature loss of teeth, Short 5th metacarpal, Short philtrum, Metaphyseal dysplasia, Convex nasa... |
OMIM:156510 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Abnormality of the knee, Cubitus valgus, Prominent calcaneus, Short nose, Toe clinodactyly, Limit... |
ORPHA:457395 |
Renpenning Syndrome |
|
High, narrow palate, Cachexia, Cleft palate, Prominent nose, Short philtrum, Mandibular prognathi... |
ORPHA:3242 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Optic atrophy, Conductive hearing impairment, Brachycephaly, Hypertelorism, Malar flattening, Fro... |
ORPHA:93262 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter |
OMIM:618992 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema |
ORPHA:60 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Micrognathia, High palate, Abnormality of the philtrum, Delayed eruption of teeth, Broad alveolar... |
ORPHA:2863 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Cleft palate, Cutis laxa, Long upper lip, Talipes equinovarus, Epiphyseal dysplasia, Hip dislocat... |
OMIM:615349 |
Mullegama-Klein-Martinez Syndrome |
|
Micrognathia, Congenital diaphragmatic hernia, Frontal bossing, Sensorineural hearing impairment,... |
OMIM:301022 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Hypoplastic iliac wing, Mandibular prognathia, Hip dysplasia, Short distal phalanx of finger, Den... |
ORPHA:1858 |
Mosaic Trisomy 14 |
|
Micrognathia, Hypertelorism, Low-set, posteriorly rotated ears, Frontal bossing, Camptodactyly of... |
ORPHA:1703 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Cleft palate, Pierre-Robin sequence, Talipes equinovarus, Abnormality of the knee, Short nose, Pr... |
ORPHA:251028 |
Three M Syndrome 2 |
|
Prominent nasal tip, High palate, Depressed nasal bridge, Small for gestational age, Long philtru... |
OMIM:612921 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Irregular epiphyses, Small epiphyses, Hip osteoarthritis, Irregular vertebral endplates, Avascula... |
OMIM:132400 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Broad femoral neck, Intervertebral space narrowing, Genu varum, Flat capital femoral epiphysis, I... |
OMIM:609223 |
Odontomicronychial Dysplasia |
|
Premature loss of primary teeth, Abnormality of the dentition, Premature eruption of permanent teeth |
ORPHA:1811 |
Acrodysostosis |
|
Abnormality of the ulna, Epiphyseal stippling, Short metatarsal, Short nose, Delayed eruption of ... |
ORPHA:950 |
Lissencephaly Type Iii And Bone Dysplasia |
|
Pulmonary hypoplasia |
OMIM:601160 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Brachycephaly, Hypertelorism, Malar flattening, Sensorineura... |
OMIM:109120 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Scapuloperoneal amyotrophy, Talipes equinovarus, Joint contracture of the hand, Waddling gait, Hy... |
OMIM:611067 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Flat occiput, Micrognathia, Hypertelorism, Malar flattening, Microtia, Low-set ears |
ORPHA:357175 |
Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth |
OMIM:619489 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Conductive hearing impairment, Hypotelorism, Abnormality of the pinna, Sensorineural hearing impa... |
OMIM:618500 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Gait disturbance, Myopathy, Congenital ptosis, Slender build, Hyperlordosis, Multiple joint contr... |
ORPHA:352470 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Myopathy, Failure to thrive, Osteoporosis, Kyphosis, Scoliosis |
OMIM:618234 |
Craniosynostosis, Herrmann-Opitz Type |
|
Micrognathia, Brachycephaly, Craniosynostosis, Malar flattening, Hypertelorism, Turricephaly, Abn... |
ORPHA:2145 |
Isolated Glycerol Kinase Deficiency |
|
Myopathy, Osteoporosis, Hyperlordosis, Cryptorchidism, Scoliosis |
ORPHA:408 |
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Optic atrophy, Midface retrusion, Interictal epileptiform activity, Progressive microcephaly, Hyp... |
OMIM:618737 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
Forsythe-Wakeling Syndrome |
|
Frontal bossing, Decreased body weight, Osteoporosis, Prominent nasal bridge |
OMIM:613606 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Atresia of the external auditory canal, Microtia, Biparietal n... |
ORPHA:1770 |
Rigid Spine Syndrome |
|
Myopathy, Skeletal muscle atrophy, Hip contracture, Pneumonia, Hamstring contractures, Spinal rig... |
ORPHA:97244 |
Brachydactylous Dwarfism, Mseleni Type |
|
Brachytelomesophalangy, Hip osteoarthritis, Abnormal femoral head morphology, Knee osteoarthritis... |
ORPHA:2619 |
Seckel Syndrome 1 |
|
Small anterior fontanelle, Cleft palate, 11 pairs of ribs, Elbow flexion contracture, Cone-shaped... |
OMIM:210600 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Depressed nasal ridge, Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergro... |
OMIM:118651 |
Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Alopecia of scalp, Kyphoscoliosis, Osteoporosis, Alop... |
OMIM:136300 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Dysmetria, Hypogonadotropic hypogonadism, Osteoporosis, Acute rhabdomyolysis, Long eyelashes, Abn... |
ORPHA:48431 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Plagiocephaly, Optic atrophy, Macrotia, Proptosis, Progressive flexion contractures, Protruding e... |
OMIM:617481 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Momo Syndrome |
|
Thick lower lip vermilion, High palate, Smooth philtrum, Long philtrum, Abnormal bone ossificatio... |
ORPHA:2563 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Upper limb undergrowth, Concave nasal ridge, Abnormal cortical bone morphology, Pathologic fractu... |
ORPHA:166277 |
Ck Syndrome |
|
Almond-shaped palpebral fissure, Long fingers, Kyphoscoliosis, Slender build, Epicanthus, Promine... |
ORPHA:251383 |
15Q14 Microdeletion Syndrome |
|
Low-set ears, Deeply set eye, Biparietal narrowing, Inguinal hernia, Microcephaly |
ORPHA:261190 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Midface retrusion, Hypoplasia of the maxilla, Proptosis |
ORPHA:2776 |
Dysmorphism-Cleft Palate-Loose Skin Syndrome |
|
Trigonocephaly, Micrognathia, Cleft palate, Redundant skin |
ORPHA:1779 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Abnormal acetabulum morphology, Gait disturbance, Genu varum, Arthralgia of the hip, Short long b... |
ORPHA:93308 |
Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Narrow nose, Midface retrusion, Thin vermilion border, Prominent nasal bridge, Dela... |
OMIM:601812 |
Legg-Calvé-Perthes Disease |
|
Joint dislocation, Cartilage destruction, Skeletal muscle atrophy |
ORPHA:2380 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Conductive hearing impairment, Micrognathia, Microtia, Joint contracture of the 5th finger, Micro... |
OMIM:248910 |
Flynn-Aird Syndrome |
|
Carious teeth, Bone cyst, Cachexia, Ataxia, Joint stiffness, Skin ulcer |
ORPHA:2047 |
Minicore Myopathy With External Ophthalmoplegia |
|
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Faci... |
OMIM:255320 |
Oculoauriculofrontonasal Syndrome |
|
Conductive hearing impairment, Micrognathia, Hypertelorism, Pericallosal lipoma, Macrocephaly, Mi... |
ORPHA:398156 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Midface retrusion, Micrognathia, Microtia, Conductive hearing impairment |
OMIM:300946 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary hypoplasia |
OMIM:619003 |
Myotubular Myopathy With Abnormal Genital Development |
|
Hypospadias, Myopathy, Neonatal death, Joint hypermobility, Micropenis, Centrally nucleated skele... |
OMIM:300219 |
Ohdo Syndrome |
|
Widely spaced teeth, Micrognathia, Smooth philtrum, Depressed nasal bridge, Long philtrum, Short ... |
OMIM:249620 |
Parietal Foramina With Cleidocranial Dysplasia |
|
Symmetrical, oval parietal bone defects, Parietal foramina, Widely patent fontanelles and sutures... |
OMIM:168550 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Deeply set eye, Flexion contracture, Microtia |
OMIM:612138 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
Glycogen Storage Disease Xiii |
|
Increased muscle glycogen content |
OMIM:612932 |
Meier-Gorlin Syndrome 8 |
|
Low-set ears, Micrognathia, Microcephaly, Microtia |
OMIM:617564 |
Crouzon Syndrome |
|
Optic atrophy, Conductive hearing impairment, Shallow orbits, Brachycephaly, Mandibular prognathi... |
OMIM:123500 |
Acrocephalopolydactyly |
|
Hypertelorism, Microtia, Oxycephaly, Premature closure of fontanelles |
ORPHA:221054 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Depressed nasal bridge, Hip osteoarthritis, Frontal bossing, Short thumb, Waddling gait, Broad ha... |
OMIM:165800 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormal palate morphology, Cachexia, Long philtrum, Short nose, Postaxial hand polydactyly, Micr... |
ORPHA:1389 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Plagiocephaly, Micrognathia, Smooth philtrum, Cachexia, Short philtrum, Talipes equinovarus, Hip ... |
ORPHA:371364 |
Autosomal Dominant Omodysplasia |
|
Micrognathia, Rhizomelia, Short 1st metacarpal, Short palm, Short humerus, Elbow dislocation |
ORPHA:93328 |
Non-Distal Monosomy 10Q |
|
Biparietal narrowing, Gait disturbance, Ataxia |
ORPHA:1581 |
Cantu Syndrome |
|
Curly eyelashes, Congenital, generalized hypertrichosis, Broad hallux, Anteverted nares, Hypoplas... |
OMIM:239850 |
Growth Hormone Insensitivity Syndrome |
|
Everted lower lip vermilion, Delayed eruption of teeth, Abnormality of the mouth |
ORPHA:181393 |
Myopathy, Distal, 5 |
|
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting |
OMIM:617030 |
Salih Myopathy |
|
Myopathy, Facial palsy, Calf muscle hypertrophy, Flexion contracture, Centrally nucleated skeleta... |
OMIM:611705 |
Keppen-Lubinsky Syndrome |
|
Abnormally large globe, Underdeveloped nasal alae, Microcephaly, Failure to thrive |
OMIM:614098 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
C1-C2 subluxation, Hirsutism, Hip contracture, Delayed eruption of teeth, Bulbous nose, Protrusio... |
OMIM:259600 |
Myasthenic Syndrome, Congenital, 14 |
|
Ragged-red muscle fibers, Waddling gait, Hyperlordosis, Flexion contracture, Scapular winging, Di... |
OMIM:616228 |
Laryngoonychocutaneous Syndrome |
|
Amelogenesis imperfecta |
OMIM:245660 |
Brachydactyly, Type B1 |
|
Cutaneous finger syndactyly, Short middle phalanx of finger, Delayed eruption of permanent teeth,... |
OMIM:113000 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Dystonia, Micrognathia, High palate, Cachexia, Limb joint contracture, Hand clenching, Gingival o... |
OMIM:618186 |
Teeth, Supernumerary |
|
Supernumerary tooth, Mesiodens |
OMIM:187100 |
Liang-Wang Syndrome |
|
Macrodontia of permanent maxillary central incisor, Diastema, Wide mouth, Macroglossia, Gingival ... |
OMIM:618729 |
Ollier Disease |
|
Platyspondyly, Abnormality of the metaphysis, Osteolysis, Precocious puberty, Abnormal cartilage ... |
ORPHA:296 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... |
OMIM:608940 |
Fetal Alcohol Syndrome |
|
Micrognathia, Congenital diaphragmatic hernia, Low-set, posteriorly rotated ears, Biparietal narr... |
ORPHA:1915 |
Cohen Syndrome |
|
Macrodontia of permanent maxillary central incisor, High, narrow palate, Micrognathia, Convex nas... |
OMIM:216550 |
Odontochondrodysplasia 1 |
|
Genu varum, Genu recurvatum, Delayed eruption of teeth, Short phalanx of finger, Short long bone,... |
OMIM:184260 |
Trichorhinophalangeal Syndrome, Type I |
|
Carious teeth, Short metatarsal, Delayed eruption of teeth, Coxa magna, Cone-shaped epiphyses of ... |
OMIM:190350 |
Oculopharyngodistal Myopathy 2 |
|
Weakness of facial musculature, EMG: myopathic abnormalities, Rimmed vacuoles, Increased endomysi... |
OMIM:618940 |
Mental Retardation, Autosomal Recessive 35 |
|
Flat occiput, Micrognathia, Hypertelorism, Malar flattening, Microtia, Low-set ears |
OMIM:615162 |
Pontocerebellar Hypoplasia, Type 3 |
|
Optic atrophy, Brachycephaly, Macrotia, Hearing impairment, Progressive microcephaly, Proptosis, ... |
OMIM:608027 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hallux valgus, Micrognathia, High palate, Knee dislocation, Osteoporosis, Shoulder dislocation, H... |
OMIM:618000 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Dysostosis, Stanescu Type |
|
Carious teeth, Abnormal dental enamel morphology, Increased bone mineral density, Hypoplasia of t... |
ORPHA:1798 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Pulmonary hypoplasia |
OMIM:224410 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
Micrognathia, High palate, Failure to thrive, Supernumerary tooth, Wide nasal base, Delayed erupt... |
OMIM:264475 |
Bethlem Myopathy 2 |
|
Myopathy, Hip dislocation, Increased variability in muscle fiber diameter, Flexion contracture, S... |
OMIM:616471 |
Potocki-Lupski Syndrome |
|
Prominent nasal tip, Micrognathia, High palate, Smooth philtrum, Wide mouth, Small for gestationa... |
OMIM:610883 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Hypospadias, Depressed nasal bridge, Low anterior hairline, Postaxial polydactyly, Ptosis, Upslan... |
OMIM:615761 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal form of the vertebral bodies, Short nose, Abnormality of the metaphysis, Reduced bone mi... |
ORPHA:2370 |
Hyperostosis Cranialis Interna |
|
Optic atrophy, Hyperostosis cranialis interna, Osteosclerosis of the base of the skull, Facial pa... |
OMIM:144755 |
Lowry-Maclean Syndrome |
|
Small anterior fontanelle, High, narrow palate, Micrognathia, Cleft palate, Convex nasal ridge, T... |
ORPHA:2409 |
Mitochondrial Myopathy With Diabetes |
|
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakne... |
OMIM:500002 |
Coffin-Siris Syndrome 10 |
|
Persistence of primary teeth, Wide mouth |
OMIM:618506 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Carious teeth, High palate, Smooth philtrum, Broad nasal tip, Redundant neck skin, Long philtrum,... |
ORPHA:357074 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Plagiocephaly, Hypertelorism, Posteriorly rotated ears, Deeply set eye, Hyperactivity, Microtia, ... |
OMIM:618089 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Dystonia, Talipes equinovarus, Kyphosis, Hip dislocation, Inability to walk, Waddling gait, Ataxi... |
OMIM:616756 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Abnormal hip joint morphology, Abnormal lumbar spine morphology, Thoracic scoliosis, Antalgic gai... |
ORPHA:166011 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Plagiocephaly, Cleft palate, Diastema, Microdontia, Talon cusp, Short metatars... |
OMIM:605282 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Abnormal palate morphology, Micrognathia, Depressed nasal bridg... |
ORPHA:2097 |
Muscular Dystrophy, Congenital, Merosin-Positive |
|
Myopathy, Facial palsy, Shoulder girdle muscle weakness, Congenital muscular dystrophy, Flexion c... |
OMIM:609456 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Micrognathia, Convex nasal ridge, Cachexia, Weight loss, Reduced bone mineral density, Narrow mou... |
ORPHA:1979 |
Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Micrognathia, Cleft palate, Short nose, Wide nasal bridge, Genu valgum, Short foot, Short metacar... |
OMIM:614078 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Flat occiput, Thickened calvaria, Large fontanelles, Large iliac wing, Brachycephaly, Osteopetros... |
ORPHA:2780 |
Nephronophthisis 7 |
|
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:611498 |
Osteoporosis-Pseudoglioma Syndrome |
|
Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metaphyseal widening,... |
ORPHA:2788 |
Aarskog-Scott Syndrome |
|
Cleft palate, Delayed eruption of teeth, Finger syndactyly, Genu recurvatum, Camptodactyly of fin... |
ORPHA:915 |
Hallermann-Streiff Syndrome |
|
Malar flattening, Underdeveloped nasal alae, Micrognathia, High palate, Narrow nose, Wormian bone... |
OMIM:234100 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Omphalocele, Micrognathia, Relative macrocephaly, Hypertelorism, Posteriorly rotated ears, Low-se... |
OMIM:618529 |
King-Denborough Syndrome |
|
Bilateral ptosis, Low hanging columella, Minicore myopathy, Weakness of facial musculature, Downs... |
OMIM:619542 |
Kleeblattschaedel |
|
Craniosynostosis, Proptosis, Cloverleaf skull |
OMIM:148800 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Toe syndactyly, Micrognathia, Depressed nasal bridge, Large fontanelles, Long philtrum, Brachycep... |
ORPHA:171839 |
Pilodental Dysplasia With Refractive Errors |
|
Conical incisor, Hypodontia |
OMIM:262020 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Wide nose, Osteoporosis, Short neck, Scoliosis, Joint laxity |
OMIM:616033 |
Cheilitis Glandularis |
|
Thick lower lip vermilion, Abnormal salivary gland morphology |
ORPHA:1221 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Frontal bossing, Malar flattening, Proptosis, Microcephaly |
ORPHA:85172 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Flat occiput, Cone-shaped epiphysis, Abnormality of the pubic bone, Large iliac wing, Ptosis, Bra... |
ORPHA:2511 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Pulmonary hypoplasia |
OMIM:601163 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Epiphyseal stippling, Short metatarsal, Delayed eruption of teeth, Long hallux, Calvarial hyperos... |
OMIM:101800 |
Pde4D Haploinsufficiency Syndrome |
|
Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Short nose, Malar flatt... |
ORPHA:439822 |
Van Maldergem Syndrome 2 |
|
Cutaneous finger syndactyly, Talipes equinovarus, Malar flattening, Short fourth metatarsal, Hypo... |
OMIM:615546 |
Craniofaciofrontodigital Syndrome |
|
Ecchymosis, Depressed nasal bridge, Palmoplantar cutis laxa, Long philtrum, Short nose, Cubitus v... |
OMIM:114620 |
Fryns-Smeets-Thiry Syndrome |
|
Thick lower lip vermilion, Micrognathia, Cachexia, Patellar aplasia, Wide mouth, Short philtrum, ... |
ORPHA:2058 |
Frontometaphyseal Dysplasia 1 |
|
Long phalanx of finger, Partial fusion of carpals, Delayed eruption of teeth, Camptodactyly of fi... |
OMIM:305620 |
Lichtenstein Syndrome |
|
C1-C2 subluxation, Hirsutism, Decreased circulating IgA level, Ulnar deviation of finger, Increas... |
OMIM:246550 |
Auditory Neuropathy, Autosomal Dominant, 1 |
|
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... |
OMIM:609129 |
Auriculocondylar Syndrome 1 |
|
Mandibular condyle aplasia, Ankylosis, Micrognathia, Cleft palate, Impaired mastication, Glossopt... |
OMIM:602483 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Short philtrum, Dental malocclusion |
OMIM:300210 |
Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis |
OMIM:608805 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... |
OMIM:255160 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs |
ORPHA:1548 |
Vitamin D-Dependent Rickets, Type 2A |
|
Carious teeth, Rickets, Enlargement of the wrists, Metaphyseal irregularity, Delayed eruption of ... |
OMIM:277440 |
Non-Distal Trisomy 10Q |
|
Micrognathia, High palate, Depressed nasal bridge, Convex nasal ridge, Brachycephaly, Short nose,... |
ORPHA:1695 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Small for gestational age, Failure to thrive, Slender build, Cubitus valgus, Disharmonious carpal... |
OMIM:608154 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Hypodontia, Micrognathia, High palate, 2-3 toe syndactyly, Tapered finger, Short nose, Thick verm... |
OMIM:617061 |
Thoracomelic Dysplasia |
|
Gait disturbance, Diaphyseal thickening, Limb undergrowth, Abnormality of pelvic girdle bone morp... |
ORPHA:1803 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Mandibular prognathia, High palate, Arthrogryposis multiplex congenita, Dental malocclusion |
OMIM:608931 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb mu... |
OMIM:619042 |
Nephronophthisis 20 |
|
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:617271 |
Duchenne And Becker Muscular Dystrophy |
|
Gait disturbance, Myopathy, Skeletal muscle atrophy, Reduced bone mineral density, Slender long b... |
ORPHA:262 |
Moderate Multiminicore Disease With Hand Involvement |
|
Knee dislocation, Recurrent patellar dislocation, Facial palsy, Intrinsic hand muscle atrophy, Ty... |
ORPHA:178145 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Micrognathia, High palate, Failure to thrive, Trigonocephaly, Short nose, Deep philtrum, Osteopen... |
ORPHA:329178 |
Van Maldergem Syndrome 1 |
|
Cutaneous finger syndactyly, Talipes equinovarus, Malar flattening, Short fourth metatarsal, Hypo... |
OMIM:601390 |
Schwartz-Jampel Syndrome, Type 1 |
|
Long eyelashes in irregular rows, Anterior bowing of long bones, Hip contracture, Talipes equinov... |
OMIM:255800 |
Schwartz-Jampel Syndrome |
|
Long eyelashes in irregular rows, Hip contracture, Talipes equinovarus, Skeletal muscle hypertrop... |
ORPHA:800 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Depressed nasal bridge, Hirsutism, Talipes equinovarus, Small for gestational age, Congenital bil... |
ORPHA:85288 |
Geroderma Osteodysplasticum |
|
Tibial bowing, Cutis laxa, Mandibular prognathia, Increased susceptibility to fractures, Osteopor... |
OMIM:231070 |
Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Broad nasal tip, Short nose, Malar flattening, Drooling, Open mouth... |
OMIM:613670 |
Frank-Ter Haar Syndrome |
|
Redundant neck skin, Talipes equinovarus, Thin upper lip vermilion, Camptodactyly, Anteverted nar... |
OMIM:249420 |
Menkes Disease |
|
Metaphyseal spurs, Cutis laxa, Brachycephaly, Metaphyseal widening, Osteoporosis, Wormian bones, ... |
OMIM:309400 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Hamamy Syndrome |
|
Hypodontia, High palate, Micrognathia, Smooth philtrum, Wide mouth, Long philtrum, Tapered finger... |
OMIM:611174 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
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Carious teeth, Enamel hypoplasia |
OMIM:614564 |
Distal Myopathy, Welander Type |
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Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Intrinsic ... |
ORPHA:603 |
Pierpont Syndrome |
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Widely spaced teeth, Smooth philtrum, Broad nasal tip, Long upper lip, Short finger, Failure to t... |
OMIM:602342 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
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Abnormal palate morphology, Micrognathia, Convex nasal ridge, Mesomelia, Tooth agenesis, Brachyda... |
ORPHA:1277 |
Bruck Syndrome 1 |
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Ankle flexion contracture, Hip contracture, Vertebral wedging, Talipes equinovarus, Increased sus... |
OMIM:259450 |
Kniest Dysplasia |
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Hip contracture, Hypoplastic pelvis, Gait disturbance, Depressed nasal bridge, Coronal cleft vert... |
OMIM:156550 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
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Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology |
ORPHA:3196 |
Lethal Congenital Contracture Syndrome 1 |
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Pulmonary hypoplasia |
OMIM:253310 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
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Brachycephaly, Mandibular prognathia, Macrotia, Hypoplasia of the maxilla, Microcephaly |
ORPHA:93950 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
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Multiple joint contractures, Minicore myopathy, Limb muscle weakness, EMG: myopathic abnormalitie... |
ORPHA:486815 |
3-Hydroxyisobutyric Aciduria |
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Micrognathia, Microcephaly, Microtia |
ORPHA:939 |
Mesomelic Limb Shortening And Bowing |
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Micrognathia, Cleft palate, Mesomelic leg shortening, Bowing of the legs, Mesomelic arm shortenin... |
OMIM:249710 |
Ring Chromosome 10 Syndrome |
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Micrognathia, Cachexia, Long philtrum, Tapered finger, Thin vermilion border, Wide nasal bridge, ... |
ORPHA:1438 |
3M Syndrome |
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Hypospadias, Delayed eruption of teeth, Bulbous nose, Anteverted nares, Hypoplastic pelvis, Incre... |
ORPHA:2616 |
Coffin-Lowry Syndrome |
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Delayed eruption of teeth, Anteverted nares, Hypoplasia of the maxilla, Thick nasal alae, Gait di... |
ORPHA:192 |
Macrocephaly/Autism Syndrome |
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Frontal bossing, Biparietal narrowing, Postnatal macrocephaly |
OMIM:605309 |
Developmental And Epileptic Encephalopathy 73 |
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Failure to thrive, Short nose, Hip dysplasia, Narrow nasal bridge, Flexion contracture, Midface r... |
OMIM:618379 |
Myopathy, Congenital, With Fiber-Type Disproportion |
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Limb joint contracture, Facial palsy, Congenital hip dislocation, Type 1 fibers relatively smalle... |
OMIM:255310 |
Chromosome 1Q41-Q42 Deletion Syndrome |
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Congenital diaphragmatic hernia, Hypotelorism, Frontal bossing, Microcephaly, Microtia, Deeply se... |
OMIM:612530 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Cutis laxa, Arachnodactyly, Wide nasal bridge, Osteopenia, Abnormality of primary teeth, Gingivit... |
ORPHA:75496 |
Multicentric Carpotarsal Osteolysis Syndrome |
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Micrognathia, Metatarsal osteolysis, Wrist swelling, Ankle swelling, Metacarpal osteolysis, Osteo... |
OMIM:166300 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
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Underdeveloped nasal alae, Micrognathia, Diastema, Malar flattening, Broad columella, Dental malo... |
ORPHA:436245 |
Senior-Loken Syndrome 5 |
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Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:609254 |
Blepharonasofacial Malformation Syndrome |
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Underdeveloped nasal alae, Cleft palate, Long philtrum, Wide nose, Wide nasal bridge, Finger synd... |
ORPHA:1252 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
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Monkey wrench femoral neck, 2-3 toe syndactyly, Limited elbow extension, Anteverted nares, Flat a... |
OMIM:618870 |
Weismann-Netter Syndrome |
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Delayed eruption of permanent teeth |
OMIM:112350 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
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Hypogonadism, Osteoporosis, Osteopenia |
OMIM:615270 |
Wilson-Turner Syndrome |
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Malar prominence, Micrognathia, Deeply set eye, Microtia |
ORPHA:3459 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
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Myopathy, Skeletal muscle atrophy, Myositis, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc... |
OMIM:615422 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
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Micrognathia, Cleft palate, Short nose, Thin upper lip vermilion, Anteverted nares |
ORPHA:2015 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
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Gait disturbance, Proximal muscle weakness in lower limbs, Gait imbalance, Foot dorsiflexor weakn... |
ORPHA:435387 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
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Flexion contracture, Centrally nucleated skeletal muscle fibers, Arthrogryposis multiplex congeni... |
OMIM:618484 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Hallux valgus, Cleft palate, Talipes equinovarus, Spatulate thumbs, 11 pairs of ribs, Broad dista... |
OMIM:245600 |
Treacher Collins Syndrome 3 |
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Conductive hearing impairment, Micrognathia, Malar flattening, Abnormality of the outer ear, Micr... |
OMIM:248390 |
Acrootoocular Syndrome |
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High, narrow palate, Micrognathia, Small for gestational age, Short finger, Failure to thrive, Su... |
ORPHA:2980 |
Distal 22Q11.2 Microduplication Syndrome |
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Micrognathia, Mandibular prognathia, Hypertelorism, Optic disc coloboma, Low-set ears, Frontal bo... |
ORPHA:261337 |
Coenzyme Q10 Deficiency, Primary, 8 |
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Pulmonary hypoplasia |
OMIM:616733 |
Myosclerosis, Autosomal Recessive |
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