| Mounier-Kühn Syndrome |
|
Recurrent bronchopulmonary infections, Tracheobronchmegaly, Bronchitis, Tracheal stenosis, Pneumo... |
ORPHA:3347 |
| Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
| Regional Odontodysplasia |
|
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... |
ORPHA:83450 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Tracheal atresia, Bilateral lung agenesis, Neonatal death |
OMIM:601612 |
| Congenital Respiratory-Biliary Fistula |
|
Tracheal stenosis |
ORPHA:2040 |
| Dentin Dysplasia With Sclerotic Bones |
|
Abnormality of the dentition, Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125440 |
| Tracheal Agenesis |
|
Tracheal atresia, Aplasia/Hypoplasia of the lungs |
ORPHA:3346 |
| Dentinogenesis Imperfecta |
|
Persistence of primary teeth, Fragile teeth, Joint hypermobility, Generalized hypoplasia of denta... |
ORPHA:49042 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Amelogenesis Imperfecta |
|
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Hypomature ... |
ORPHA:88661 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Dentin Dysplasia, Type I |
|
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... |
OMIM:125400 |
| Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
| Trichodentoosseous Syndrome |
|
Widely spaced teeth, Taurodontia, Increased bone mineral density, Microdontia |
OMIM:190320 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Dentinogenesis imperfecta, Toe clinodactyly, Upper limb undergrowth, Pathologic fracture, Short f... |
ORPHA:166277 |
| Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
| Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Dentin Dysplasia |
|
Abnormality of dental morphology, Increased bone mineral density, Abnormal dental enamel morphology |
ORPHA:1653 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Dentinogenesis imperfecta, Short philtrum, Cone-shaped epiphysis, Delayed eruption of teeth, Oste... |
ORPHA:71267 |
| Tracheobronchopathia Osteochondroplastica |
|
Abnormal tracheobronchial morphology, Calcification of cartilage, Bronchitis, Tracheal stenosis, ... |
ORPHA:3348 |
| Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Dentinogenesis imperfecta, Reduced bone mineral density, Slender long bone, ... |
OMIM:619795 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... |
OMIM:125500 |
| Osteogenesis Imperfecta, Type V |
|
Recurrent fractures, Dentinogenesis imperfecta, Limited pronation/supination of forearm, Anterior... |
OMIM:610967 |
| Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Nephronophthisis, Micromelia, Delayed eruptio... |
OMIM:184260 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density |
OMIM:239100 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Otodental Dysplasia |
|
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... |
OMIM:166750 |
| Anonychia-Microcephaly Syndrome |
|
Abnormality of the dentition, Clinodactyly of the 5th finger, Carious teeth |
ORPHA:1094 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
| Intermediate Osteopetrosis |
|
Dental malocclusion, Cortical sclerosis, Osteomyelitis, Recurrent fractures, Osteosclerosis of th... |
ORPHA:210110 |
| Dentin Dysplasia, Type Ii |
|
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification |
OMIM:125420 |
| Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Dentinogenesis imperfecta, Epiphyseal streaking, Clinodactyly of the 4th toe, Limited elbow exten... |
OMIM:604922 |
| Taurodontism, Microdontia, And Dens Invaginatus |
|
Dens in dente, Taurodontia, Microdontia, Pulp calcification |
OMIM:313490 |
| Odontochondrodysplasia |
|
Dentinogenesis imperfecta, Retrognathia, Cone-shaped epiphysis, Micromelia, Delayed eruption of t... |
ORPHA:166272 |
| Cranioectodermal Dysplasia |
|
Short distal phalanx of finger, Taurodontia, Clinodactyly of the 5th finger, Hypodontia, Finger s... |
ORPHA:1515 |
| Distal Osteosclerosis |
|
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis |
OMIM:126250 |
| Cataract 20, Multiple Types |
|
Membranous cataract, Cataract |
OMIM:116100 |
| X-Linked Hypophosphatemia |
|
Craniosynostosis, Upper limb metaphyseal widening, Hypocalciuria, Genu valgum, Abnormal epiphysis... |
ORPHA:89936 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Dentinogenesis imperfecta, Decreased calvarial ossification, Short lower lim... |
OMIM:259440 |
| Otodental Syndrome |
|
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Otitis media with effusion... |
ORPHA:2791 |
| Amelogenesis Imperfecta, Type Ia |
|
Taurodontia, Amelogenesis imperfecta, Generalized microdontia |
OMIM:104530 |
| Oligodontia |
|
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
| Tricho-Dento-Osseous Syndrome |
|
Taurodontia, Increased bone mineral density, Periapical tooth abscess, Finger clinodactyly, Micro... |
ORPHA:3352 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density |
OMIM:166740 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones |
ORPHA:53697 |
| Tooth Agenesis, Selective, 7 |
|
Agenesis of permanent teeth, Taurodontia |
OMIM:616724 |
| Jung Syndrome |
|
Tracheal stenosis, Recurrent respiratory infections |
ORPHA:2321 |
| Ackerman Syndrome |
|
Broad philtrum, Taurodontia |
OMIM:200970 |
| Isolated Osteopoikilosis |
|
Discoid lupus rash, Abnormality of femur morphology, Cleft palate, Abnormally ossified vertebrae,... |
ORPHA:166119 |
| Flynn-Aird Syndrome |
|
Joint stiffness, Increased bone mineral density, Osteoporosis, Carious teeth, Increased bone dens... |
OMIM:136300 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis |
OMIM:607634 |
| Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair |
|
Oligodontia, Taurodontia |
OMIM:272980 |
| Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Shor... |
ORPHA:53 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Tracheoesophageal fistula, Tracheal stenosis |
ORPHA:93941 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Splenomegaly, Abnormality of tibia morphology, Diaphyseal thicke... |
ORPHA:1802 |
| Endosteal Hyperostosis, Worth Type |
|
Torus palatinus, Clavicular sclerosis, Generalized osteosclerosis, Diaphyseal thickening, Mandibu... |
ORPHA:2790 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Premature loss of teeth, Periodontitis, Cone-shaped epiphyses of the phalanges of the hand, Denti... |
OMIM:619269 |
| Pyle Disease |
|
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Delayed eruption of te... |
OMIM:265900 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Failure to thrive, Coxa vara, Osteomyelitis, Hepatomegaly, Increased bone mineral density, Cranio... |
OMIM:259700 |
| Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta |
OMIM:617297 |
| Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... |
OMIM:300510 |
| 48,Xxyy Syndrome |
|
Taurodontia, Clinodactyly of the 5th finger, Hypoplasia of penis, Cleft palate, Inguinal hernia, ... |
ORPHA:10 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Reduced bone mineral density, Abnormality of the dentition, Genu varum, Ca... |
ORPHA:2501 |
| Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Tibial bowing, Dentinogenesis imperfecta, Micrognathia, Decreased calvarial ... |
OMIM:259420 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hypodontia, Short 1st metacarpal, Delayed eruption of teeth, Hip osteoarthritis, Short middle pha... |
ORPHA:63442 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Persistence of primary teeth, Diaph... |
OMIM:259710 |
| Hall-Riggs Mental Retardation Syndrome |
|
Failure to thrive, U-Shaped upper lip vermilion, Metaphyseal dysplasia, Hypoplasia of the primary... |
OMIM:234250 |
| Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Tracheal stenosis, Hypoplasia of penis |
OMIM:601427 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Curved distal p... |
ORPHA:3152 |
| Trichodental Dysplasia |
|
Conical tooth, Hypodontia, Odontodysplasia |
OMIM:601453 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:125490 |
| Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... |
ORPHA:83451 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty |
OMIM:618117 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism, Cataract |
OMIM:274205 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Gingival overgrowth, Gingival hyperkeratosis, Short toe, Hypodontia, Inguinal hernia, Everted low... |
OMIM:225410 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... |
OMIM:144750 |
| Osteogenesis Imperfecta, Type Xi |
|
Coxa vara, Dentinogenesis imperfecta, Abnormality of the dentition, Osteopenia, Protrusio acetabu... |
OMIM:610968 |
| Autosomal Recessive Primary Microcephaly |
|
Unilateral renal agenesis, Abnormal cortical bone morphology, Thin upper lip vermilion, Vesicoure... |
ORPHA:2512 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 18 |
|
Cataract |
OMIM:610019 |
| Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
| Pendred Syndrome |
|
Tracheal stenosis, Nephropathy |
ORPHA:705 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Cleft palate, Small for gestational age, Renal agenesis, Abnormal hip bone morphology, Upper limb... |
ORPHA:294975 |
| Spastic Paraparesis And Deafness |
|
Cataract, Hypogonadism |
OMIM:312910 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Retrognathia, Unilateral renal agenesis, Postaxial... |
OMIM:614576 |
| Junctional Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Enamel hypoplasia, Atrophic scars, Gastrointestinal inflamm... |
ORPHA:79405 |
| Amelogenesis Imperfecta, Type Ic |
|
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... |
OMIM:204650 |
| Pseudopseudohypoparathyroidism |
|
Brachydactyly, Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Obesity, Short metatar... |
OMIM:612463 |
| Taurodontism |
|
Taurodontia |
OMIM:272700 |
| Amelogenesis Imperfecta, Type Iv |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta |
OMIM:104510 |
| Keutel Syndrome |
|
Tracheal atresia, Recurrent sinusitis, Calcification of cartilage, Pulmonary artery stenosis, Rec... |
ORPHA:85202 |
| Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Amelogenesis imperfecta, Microdontia, Anterior open-bite malocclusion |
OMIM:301200 |
| Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
| Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... |
OMIM:617565 |
| Cranioectodermal Dysplasia 4 |
|
Short distal phalanx of finger, Taurodontia, Thin vermilion border, Cutaneous finger syndactyly, ... |
OMIM:614378 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Oral mucosal blisters, Hypodontia, Camptodactyly of finger, Carious teeth, Enamel hypoplasia |
OMIM:226650 |
| Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis |
ORPHA:564003 |
| Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia, Joint stiffness |
ORPHA:2871 |
| Osteogenesis Imperfecta, Type X |
|
Nephrolithiasis, Dentinogenesis imperfecta, Malar flattening, Inguinal hernia, Generalized joint ... |
OMIM:613848 |
| Beaulieu-Boycott-Innes Syndrome |
|
Dental malocclusion, Velopharyngeal insufficiency, Unilateral renal agenesis, Micrognathia, Recur... |
OMIM:613680 |
| 48,Xxxy Syndrome |
|
Taurodontia, Clinodactyly of the 5th finger, Hypoplasia of penis, Cleft palate, Inguinal hernia, ... |
ORPHA:96263 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... |
OMIM:166600 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract, Hypogonadism |
OMIM:254000 |
| 48,Xyyy Syndrome |
|
High palate, Dislocated radial head, Irregularly spaced teeth, Long philtrum, Abnormal renal morp... |
ORPHA:99329 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Thick upper lip vermilion, Dental malocclusion, Overlapping toe, Velopharyngeal insufficiency, Mi... |
ORPHA:363444 |
| Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Dentinogenesis imperfecta, Reduced bone mineral density, Femoral bowing pres... |
OMIM:166220 |
| Schimke Immuno-Osseous Dysplasia |
|
Pancreatitis, Microdontia, Abnormal proportion of naive CD4 T cells, Abnormal femoral head morpho... |
ORPHA:1830 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Micrognathia, Short middle phalanx of toe, Enamel hypoplasia, Short proximal phalanx of hallux, S... |
OMIM:251190 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Enamel hypoplasia, Atrophic scars, Anemia, Scarring alopecia of scalp |
ORPHA:79402 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Keratitis, Urethral stricture, Increased connective tissue, Carious teeth, Enamel hypoplasia, Pun... |
OMIM:226670 |
| Burn-Mckeown Syndrome |
|
Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Cleft palate, Inguinal hernia, Thin vermilion ... |
OMIM:608572 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Flexion contracture, Generalized hypoplasia of dental enamel, Carious teeth, Cutaneous finger syn... |
OMIM:203550 |
| Osteogenesis Imperfecta, Type Viii |
|
Recurrent fractures, Tibial bowing, Radial bowing, Dentinogenesis imperfecta, Short metacarpal, I... |
OMIM:610915 |
| Momo Syndrome |
|
High palate, Thick upper lip vermilion, Dental malocclusion, Taurodontia, Abnormal bone ossificat... |
ORPHA:2563 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Decreased renal tubular phosphate excretion, Taurodontia, Increased renal tubular phosphate reabs... |
OMIM:211900 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Enamel hypoplasia, Carious teeth |
OMIM:614564 |
| Cole-Carpenter Syndrome 2 |
|
High palate, Dentinogenesis imperfecta, Microretrognathia, Coronal craniosynostosis, Osteopenia, ... |
OMIM:616294 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Failure to thrive, Syndactyly, Carious teeth, Enamel hypoplasia, Atrophic scars |
OMIM:226700 |
| Melorheostosis |
|
Joint stiffness, Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in... |
ORPHA:2485 |
| Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency |
OMIM:608996 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Anodontia, Increased bone mineral density, Cleft palate, Abnormal... |
ORPHA:90650 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Infertility, Cataract |
OMIM:300719 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Genu valgum... |
ORPHA:2972 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
High palate, Overlapping toe, Micropenis, Retrognathia, Micrognathia, Unilateral renal agenesis, ... |
OMIM:618142 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Dental malocclusion, Cone-shaped epiphyses of the phalanges of the hand, Long hallux, Dislocated ... |
OMIM:101800 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Failure to thrive, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, ... |
OMIM:264700 |
| Hypophosphatemic Rickets |
|
Periapical tooth abscess, Abnormality of the dentition, Craniofacial asymmetry, Hypocalciuria, En... |
ORPHA:437 |
| Hurler-Scheie Syndrome |
|
Contracture of the distal interphalangeal joint of the fingers, Camptodactyly of finger, Heparan ... |
OMIM:607015 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619665 |
| Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Female infertility, Streak ovary, Elevated circulating luteinizing horm... |
OMIM:612310 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Failure to thrive, Anemia of inadequate production, Hepatomegaly, Skin rash, Calvarial hyperostos... |
OMIM:612714 |
| Aniridia 3 |
|
Cataract |
OMIM:617142 |
| Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Metaphyseal irregularity, Widely-spaced incisors, Slender finger, Oligodontia, Flared metaphysis,... |
OMIM:601668 |
| Majeed Syndrome |
|
Hepatomegaly, Proteinuria, Acne, Weight loss, Metaphyseal irregularity, Osteomyelitis, Inflammato... |
ORPHA:77297 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619203 |
| Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Malar flattening, Micrognathia, Flared metaphysis, Microme... |
OMIM:215045 |
| Premature Ovarian Failure 5 |
|
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... |
OMIM:611548 |
| Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... |
ORPHA:261529 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Oral mucosal blisters, Carious teeth |
ORPHA:79406 |
| Smith-Magenis Syndrome |
|
Cleft upper lip, Joint stiffness, Taurodontia, Renal hypoplasia/aplasia, Clinodactyly of the 5th ... |
ORPHA:819 |
| Galloway-Mowat Syndrome 8 |
|
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Enamel hypoplasia, Focal segmental glomerul... |
OMIM:618349 |
| Camurati-Engelmann Disease |
|
Reduced subcutaneous adipose tissue, Slender build, Sclerosis of skull base, Cortical thickening ... |
OMIM:131300 |
| Pycnodysostosis |
|
High palate, Abnormality of the dentition, Carious teeth, Rhizomelia, Hypoplasia of the maxilla, ... |
ORPHA:763 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors |
OMIM:114700 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
| Brittle Cornea Syndrome 1 |
|
Atypical scarring of skin, Congenital hip dislocation, Dentinogenesis imperfecta, Joint laxity |
OMIM:229200 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Episodic hemolytic anemia, Craniosynostosis, Macroscopic hematuria, Membrano... |
ORPHA:251004 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
High palate, Recurrent fractures, Eczematoid dermatitis, Persistence of primary teeth, Skin rash,... |
OMIM:147060 |
| 49,Xxxxy Syndrome |
|
Taurodontia, Renal hypoplasia/aplasia, Hypoplasia of penis, Cleft palate, Open bite, Clinodactyly... |
ORPHA:96264 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Hip contracture, Advanced ossification of carpal bones, Tooth agenesis, Microretrogn... |
OMIM:618363 |
| Osteogenesis Imperfecta, Type I |
|
Recurrent fractures, Dentinogenesis imperfecta, Osteopenia, Femoral bowing, Increased susceptibil... |
OMIM:166200 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the uterus, Decreased serum testosterone concentration, Hypoplasia of the ovary, Mi... |
OMIM:614841 |
| Short Stature, Dauber-Argente Type |
|
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Delayed eru... |
OMIM:619489 |
| Tracheobronchomegaly |
|
Bronchiectasis, Diverticulosis of trachea, Recurrent bronchopulmonary infections, Death in infancy |
OMIM:275300 |
| Emanuel Syndrome |
|
High palate, Multiple joint contractures, Failure to thrive, Congenital diaphragmatic hernia, Ing... |
ORPHA:96170 |
| Hypomandibular Faciocranial Dysostosis |
|
Tracheal stenosis, Recurrent respiratory infections, Death in infancy, Abnormal tracheobronchial ... |
ORPHA:1790 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Abnormal metaphysis ... |
ORPHA:1306 |
| Dysosteosclerosis |
|
Abnormal dental enamel morphology, Recurrent fractures, Increased bone mineral density, Delayed e... |
ORPHA:1782 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteosclerosis, Mandibular prognathia, Cra... |
OMIM:122860 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Osteomyelitis, Increased susceptibility to fractures, Diaphyseal cortical sclerosis |
OMIM:166260 |
| Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth |
OMIM:615887 |
| Dysplastic Cortical Hyperostosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2204 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... |
ORPHA:168563 |
| Lethal Recessive Chondrodysplasia |
|
Macroglossia, Micrognathia, Micromelia, Limb undergrowth, Generalized osteosclerosis, Flared elbo... |
ORPHA:1423 |
| Fraser Syndrome 3 |
|
Tracheal atresia, Abnormal lung lobation |
OMIM:617667 |
| Nager Syndrome |
|
Wide mouth, Joint stiffness, Cleft palate, Unilateral renal agenesis, Micrognathia, Hypoplasia of... |
ORPHA:245 |
| Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Gon... |
OMIM:612964 |
| Ck Syndrome |
|
Slender build, High palate, Malar flattening, Retrognathia, Micrognathia, Abnormal digit morpholo... |
OMIM:300831 |
| Fryns Macrocephaly |
|
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... |
OMIM:600302 |
| Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus |
|
Enamel hypoplasia, Alaninuria |
OMIM:202900 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Failure to thrive, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, ... |
OMIM:277440 |
| Hypertrichosis Lanuginosa Congenita |
|
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2222 |
| Osteogenesis Imperfecta, Type Xii |
|
High palate, Narrow mouth, Malar flattening, Micrognathia, Delayed eruption of teeth, Osteoporosi... |
OMIM:613849 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Cataract |
ORPHA:79281 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate, Craniosynostosis |
OMIM:600252 |
| Williams-Beuren Region Duplication Syndrome |
|
High palate, Unilateral renal agenesis, Micrognathia, Short philtrum, Diastema, Chronic otitis me... |
OMIM:609757 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Primary amenorrhea |
OMIM:617690 |
| Ramon Syndrome |
|
Failure to thrive, Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Osteolysis, A... |
ORPHA:3019 |
| 46,Xy Sex Reversal 3 |
|
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... |
OMIM:612965 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Failure to thrive, Epiphyseal dysplasia, Metaphyseal dysplasia, Hepatomegaly, Malar flattening, O... |
OMIM:614727 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Tooth agenesis, Short philtrum, Delayed eruption of teeth, Mandibular prognathia, Anemia, Abnorma... |
ORPHA:2325 |
| Mueller-Weiss Syndrome |
|
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... |
ORPHA:566943 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Macroglossia, Increased body mass index, Congenital hip dislocation, Delayed eruption of teeth, O... |
OMIM:614450 |
| Pycnodysostosis |
|
Narrow palate, Persistence of primary teeth, Hypodontia, Increased bone mineral density, Microgna... |
OMIM:265800 |
| Braddock Syndrome |
|
Unilateral renal agenesis, Failure to thrive, Micrognathia, Preaxial hand polydactyly |
ORPHA:52047 |
| Shaheen Syndrome |
|
Enamel hypoplasia, Carious teeth |
OMIM:615328 |
| Specific Granule Deficiency 2 |
|
Failure to thrive, Recurrent otitis media, Tooth malposition, Osteopenia, Brachydactyly, Thromboc... |
OMIM:617475 |
| Vacterl/Vater Association |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Hypospadias, Abn... |
ORPHA:887 |
| Tessadori-Van Haaften Neurodevelopmental Syndrome 4 |
|
2-3 toe syndactyly, Micropenis, Unilateral renal agenesis, Micrognathia, Camptodactyly of finger,... |
OMIM:619951 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis |
OMIM:615198 |
| Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:603641 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Brachydactyly, Enamel hypoplasia, Downturned corners of mouth, Abnormal epiphysis morphology, Neu... |
ORPHA:2643 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Enamel hypoplasia, Hepatitis, Thick vermilion border, Carious teeth |
ORPHA:363523 |
| Chopra-Amiel-Gordon Syndrome |
|
Cleft palate, Unilateral renal agenesis, Short philtrum, Cleft lip, Joint hypermobility, Pierre-R... |
OMIM:619504 |
| Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
| Hypogonadism-Cataract Syndrome |
|
Infertility, Cataract, Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating... |
OMIM:240950 |
| Familial Expansile Osteolysis |
|
Hydroxyprolinuria, Premature loss of teeth, Fragile teeth, Pathologic fracture, Thin bony cortex,... |
OMIM:174810 |
| Osteogenesis Imperfecta, Type Xiii |
|
Dislocated radial head, Decreased body weight, Increased bone mineral density, Thin vermilion bor... |
OMIM:614856 |
| Takenouchi-Kosaki Syndrome |
|
Wide mouth, Dental malocclusion, Overlapping toe, Inguinal hernia, Unilateral renal agenesis, Hyp... |
OMIM:616737 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
High palate, Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Unilateral ... |
ORPHA:3306 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2027 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... |
OMIM:614837 |
| 46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... |
OMIM:233420 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia of the lungs, Tracheal stenosis, Multicystic kidney dysplasia, Abnormal lung l... |
ORPHA:3301 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Thin upper lip vermilion, Syndactyly, Cardiomegaly |
OMIM:613576 |
| Ovarian Dysgenesis 10 |
|
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... |
OMIM:619834 |
| Momo Syndrome |
|
High palate, Dental malocclusion, Taurodontia, Short sternum, Long philtrum, Delayed eruption of ... |
OMIM:157980 |
| Dysostosis, Stanescu Type |
|
Tooth agenesis, Increased bone mineral density, Macroglossia, Massively thickened long bone corti... |
ORPHA:1798 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Cleft upper lip, Cleft palate, Unilateral renal agenesis, Micrognathia, Renal agenesis, Ectopic k... |
OMIM:601076 |
| Dysosteosclerosis |
|
High palate, Short sternum, Osteopenia, Delayed eruption of teeth, Sclerotic scapulae, Progressiv... |
OMIM:224300 |
| Premature Ovarian Failure 13 |
|
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea, Elevated circulating fo... |
OMIM:617442 |
| Laron Syndrome |
|
Short toe, Tooth agenesis, Hypoplasia of penis, Micrognathia, Osteoarthritis, Brachydactyly, Micr... |
ORPHA:633 |
| Aredyld Syndrome |
|
Narrow mouth, Craniofacial hyperostosis, Lipoatrophy, Hepatomegaly, Splenomegaly, Cachexia, Abnor... |
ORPHA:1133 |
| Pseudohypoparathyroidism, Type Ia |
|
Short toe, Brachydactyly, Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Short finge... |
OMIM:103580 |
| Branchioskeletogenital Syndrome |
|
Craniosynostosis, Abnormality of the dentition, Short philtrum, Bladder exstrophy, Carious teeth,... |
ORPHA:1299 |
| Pseudohypoparathyroidism Type 1B |
|
Diaphyseal sclerosis, Increased bone mineral density, Delayed eruption of teeth, Enamel hypoplasi... |
ORPHA:94089 |
| Oligomeganephronia |
|
Congenital diaphragmatic hernia, Decreased glomerular filtration rate, Small for gestational age,... |
ORPHA:2260 |
| Mulibrey Nanism |
|
Dental malocclusion, Hepatomegaly, Hypodontia, Nephroblastoma, Thickened cortex of long bones, En... |
OMIM:253250 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Tooth agenesis, Renal hypoplasia/aplasia, Midshaft hypospadias, Micrognathia, Campto... |
ORPHA:2863 |
| Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Nephrolithiasis, Hypodontia, Hypoplasia of penis, Hypospadias, Delayed eruption of teeth, Shagree... |
ORPHA:1816 |
| Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... |
ORPHA:2484 |
| 17Q11.2 Microduplication Syndrome |
|
Enamel hypoplasia, Malar flattening, Abnormal dental enamel morphology, Thin vermilion border |
ORPHA:139474 |
| Spastic Paraparesis-Deafness Syndrome |
|
Cataract, Hypogonadism |
ORPHA:2815 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology, Cari... |
OMIM:204700 |
| Pseudohypoparathyroidism, Type Ic |
|
Brachydactyly, Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Obesity, Short metatar... |
OMIM:612462 |
| Diastrophic Dysplasia |
|
Joint stiffness, Increased bone mineral density, Cleft palate, Micrognathia, Camptodactyly of fin... |
ORPHA:628 |
| Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
High palate, Malar flattening, Brachydactyly, Enamel hypoplasia, Sandal gap, Mandibular prognathia |
OMIM:600991 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Renal phosphate wasting, ... |
ORPHA:289176 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, Splenomegaly |
OMIM:619813 |
| Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Clinodactyly of the 5th finger, Abnormal dental enamel mor... |
ORPHA:1077 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Enamel hypoplasia, Hypodontia |
OMIM:616029 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Failure to thrive, Delayed epiphyseal ossification, Sparse bone trabeculae, Subperiosteal bone re... |
ORPHA:289157 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis, Short distal phalanx of finger, Cleft palate |
OMIM:601355 |
| Amelogenesis Imperfecta, Type Ih |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... |
OMIM:616221 |
| Axial Osteomalacia |
|
Osteomalacia, Increased bone mineral density |
OMIM:109130 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
High palate, Gingival overgrowth, Everted lower lip vermilion, Delayed eruption of teeth, Gingiva... |
ORPHA:2025 |
| Fibromatosis, Gingival, With Distinctive Facies |
|
High palate, Persistence of primary teeth, Everted lower lip vermilion, Gingival fibromatosis, Ir... |
OMIM:228560 |
| Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Hypoplasia of penis, Everted lower lip vermilion, Delayed eruption of teeth, T... |
ORPHA:181393 |
| Frank-Ter Haar Syndrome |
|
Wide mouth, Gingival overgrowth, Premature loss of teeth, Joint stiffness, Clinodactyly of the 5t... |
ORPHA:137834 |
| Osteogenesis Imperfecta |
|
Abnormality of femur morphology, Abnormality of the dentition, Osteopenia, Femoral bowing, Microm... |
ORPHA:666 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Abnormality of the dentition, Multicystic kidney dysplasia, Radioulnar synostosis, Carious teeth,... |
ORPHA:3270 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Failure to thrive, Megaloblastic anemia, Cleft palate, Skin rash, Unilateral renal agenesis, Meth... |
ORPHA:79284 |
| Catifa Syndrome |
|
Tooth malposition, Cleft palate, Inguinal hernia, Long philtrum, Delayed eruption of teeth, Campt... |
OMIM:618761 |
| Eiken Syndrome |
|
Short philtrum, Multiple unerupted teeth, Thick lower lip vermilion, Eruption failure, Decreased ... |
OMIM:600002 |
| Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Gingival fibromatosis |
ORPHA:2026 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Agenesis of permanent teet... |
ORPHA:2228 |
| Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Deviation of the 5th finger, Postaxial polydactyly, Unilateral renal agenesis, Open mouth, Broad ... |
OMIM:616362 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Hypergonadotropic hypogonadism, Streak ovary |
OMIM:241090 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... |
OMIM:194072 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
High palate, Coxa valga, Increased bone mineral density, Malar flattening, Micrognathia, Osteopen... |
ORPHA:85184 |
| Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Everted lower lip vermilion, Sma... |
OMIM:619980 |
| Anti-Glomerular Basement Membrane Disease |
|
Persistence of primary teeth, Hematuria, Arthritis, Renal insufficiency, Proteinuria, Glomerulopa... |
ORPHA:375 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
| Granulomatosis With Polyangiitis |
|
Hemosiderin-laden macrophages in bronchoalveolar fluid, Pleuritis, Tracheal stenosis, Localized p... |
OMIM:608710 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Abnormal femoral neck/head morphology, Abnormal bone ossification, Increased bone mi... |
ORPHA:163649 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
High palate, Multiple joint contractures, Slender long bones with narrow diaphyses, Craniosynosto... |
ORPHA:536467 |
| Bone Marrow Failure Syndrome 3 |
|
Failure to thrive, Metaphyseal dysplasia, Hypodontia, Reduced bone mineral density, Micrognathia,... |
OMIM:617052 |
| Galactosemia Iv |
|
Cataract, Prolonged neonatal jaundice |
OMIM:618881 |
| Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
| Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Agenesis of molar, Supernumerary tooth, Micropenis, Osteopenia, Hypospadias, Diastema, Microdonti... |
OMIM:619718 |
| Geleophysic Dysplasia 3 |
|
Tracheal stenosis, Pneumonia |
OMIM:617809 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinuria, Premature loss of teeth, Failure to thrive, Recurrent fractures, Increased uri... |
OMIM:239000 |
| Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract, Micropenis |
OMIM:610156 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Dental malocclusion, Dislocated radial head, Flat capital femoral epiphysis, Joint c... |
OMIM:612350 |
| Hypophosphatasia, Childhood |
|
Bowing of the legs, Craniosynostosis, Premature loss of primary teeth, Phosphoethanolaminuria, Ca... |
OMIM:241510 |
| Weismann-Netter Syndrome |
|
Calvarial hyperostosis, Fibular bowing, Lateral femoral bowing, Delayed eruption of permanent tee... |
OMIM:112350 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Cleft upper lip, Cleft palate, Micropenis, Unilateral renal agenesis, Finger joint hypermobility |
OMIM:244200 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Cleft palate, Abnormal mandible morphology, Arthrogryposis multiplex congenita |
OMIM:217150 |
| Oculodentodigital Dysplasia |
|
Cleft upper lip, Premature loss of teeth, 3-4 toe syndactyly, Taurodontia, Cleft palate, Microdon... |
OMIM:164200 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Pancreatitis, Hepatomegaly, Osteopenia, Gout, Carious teeth, Enlarged kidney, Proteinuria, Stage ... |
ORPHA:79259 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Talipes equinovarus, Unilateral renal agenesis, Bilateral renal agenesis, Patent ductus arteriosu... |
OMIM:618845 |
| Caffey Disease |
|
Joint hypermobility, Periosteal thickening of long tubular bones, Calvarial hyperostosis, Cortica... |
OMIM:114000 |
| Brachydactyly, Type E2 |
|
Oligodontia, Brachydactyly, Delayed eruption of teeth, Short metatarsal, Short metacarpal |
OMIM:613382 |
| Gorham-Stout Disease |
|
Mandibular pain, Abnormality of femur morphology, Abnormal bone ossification, Osteomyelitis, Abno... |
ORPHA:73 |
| Oculodentodigital Dysplasia |
|
Cleft palate, Carious teeth, Umbilical hernia, Abnormal metaphysis morphology, Mandibular prognat... |
ORPHA:2710 |
| Osteoglosphonic Dysplasia |
|
Tooth agenesis, Abnormal bone ossification, Inguinal hernia, Craniosynostosis, Micrognathia, Brac... |
ORPHA:2645 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Lymphopenia, Tooth malposition, Inguinal hernia, Micropenis, Unilateral renal agenesis, Truncal o... |
OMIM:616541 |
| Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
| Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
High palate, Neutropenia, Persistence of primary teeth, Supernumerary tooth, Lymphopenia, Recurre... |
OMIM:619752 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Joint contracture of the hand, Flexion contracture, Small for gestational age,... |
OMIM:214150 |
| Localized Junctional Epidermolysis Bullosa |
|
Mitten deformity, Enamel hypoplasia, Dental enamel pits, Limb joint contracture, Atypical scarrin... |
ORPHA:251393 |
| Amelogenesis Imperfecta, Type If |
|
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color |
OMIM:616270 |
| Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia, Joint stiffness |
OMIM:261560 |
| Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:614129 |
| Proteus Syndrome |
|
Lipoma, Calvarial hyperostosis, Splenomegaly, Multiple lipomas, Thin bony cortex, Open mouth, Man... |
OMIM:176920 |
| Nance-Horan Syndrome |
|
Mulberry molar, Diastema, Screwdriver-shaped incisors, Broad finger, Short phalanx of finger, Sup... |
OMIM:302350 |
| 12Q14 Microdeletion Syndrome |
|
Failure to thrive, Clinodactyly of the 5th finger, Hypodontia, Thin vermilion border, Micrognathi... |
ORPHA:94063 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Downturned corners of mouth, Micrognathia, Unilateral renal agenesis, Craniosynostosis |
ORPHA:1064 |
| Filippi Syndrome |
|
Decreased body weight, Hypodontia, Thin vermilion border, Short philtrum, Cutaneous syndactyly, F... |
OMIM:272440 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Large iliac wing, High, narrow palate, Cleft palate, Increased bone mineral density, Retrognathia... |
ORPHA:2780 |
| Branchiootorenal Syndrome 1 |
|
High palate, Cleft palate, Unilateral renal agenesis, Abnormal renal collecting system morphology... |
OMIM:113650 |
| Clark-Baraitser syndrome |
|
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Tapered finger, Genu valgu... |
OMIM:300602 |
| Raine Syndrome |
|
High palate, Wide mouth, Cleft palate, Micromelia, Microdontia, Bowing of the long bones, Subperi... |
OMIM:259775 |
| Cleft Lip/Palate |
|
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... |
ORPHA:199306 |
| Hypophosphatasia, Adult |
|
Recurrent fractures, Chondrocalcinosis, Premature loss of primary teeth, Osteomalacia, Premature ... |
OMIM:146300 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Cataract, Decreased testicular size, Hypogonadism |
ORPHA:1875 |
| Eec Syndrome |
|
Keratitis, Cleft palate, Microdontia, Carious teeth, Inflammatory abnormality of the eye, Blephar... |
ORPHA:1896 |
| Oculocerebrodental Syndrome |
|
Metaphyseal dysplasia, Retrognathia, Abnormality of the dentition, Oligodontia, Short 5th finger,... |
ORPHA:557003 |
| Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Amelogenesis imperfecta, Hypodontia |
OMIM:615905 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Cheilitis, Abnormality of the dentition, Delayed eruption of teeth, Hematuria, Carious teeth, Gen... |
ORPHA:534 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short 1st metacarpal, Cone-shaped epiphysis, Microdontia, Proximal femoral epiphysiolysis, Distal... |
OMIM:210720 |
| Otopalatodigital Syndrome Type 2 |
|
Cleft palate, Ureteral obstruction, Omphalocele, Bowing of the long bones, Carpal synostosis, Inc... |
ORPHA:90652 |
| Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... |
OMIM:612885 |
| Seckel Syndrome 1 |
|
High palate, Dental malocclusion, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyl... |
OMIM:210600 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Dental malocclusion, Diaphyseal sclerosis, Osteopetrosis, Extramedullary hematopoiesis, Hepatospl... |
OMIM:259730 |
| Acrofacial Dysostosis 1, Nager Type |
|
Wide mouth, Cleft palate, Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Broad ha... |
OMIM:154400 |
| Grant Syndrome |
|
Open bite, Abnormality of the glenoid fossa, Micrognathia, Joint hyperflexibility, Abnormal pelvi... |
ORPHA:2097 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology |
ORPHA:3196 |
| Schnitzler Syndrome |
|
Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Skin rash, Arthritis, A... |
ORPHA:37748 |
| Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:615723 |
| Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Dens in dente, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Hypodontia, Macrodontia, Bifid... |
OMIM:263540 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density |
OMIM:231095 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Coffin-Siris Syndrome 10 |
|
Wide mouth, Persistence of primary teeth, Clinodactyly |
OMIM:618506 |
| Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Short distal phalanx of the thumb, Chronic oral candidiasis, Abnormal T cell subset distribution,... |
ORPHA:221139 |
| Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
| Cerebellar-Facial-Dental Syndrome |
|
Alveolar ridge overgrowth, Failure to thrive, Dental malocclusion, Taurodontia, Macrodontia of pe... |
ORPHA:444072 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-3 toe cutaneous syndactyly, Enamel hypoplasia, Widely spaced teeth, 4-5 toe syndactyly, Conical... |
OMIM:613573 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Short distal phalanx of finger, Wide mouth, Dental malocclusion, Clinodactyly of the 5th finger, ... |
OMIM:619293 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Ulnar deviation of the hand, Hypodontia, Flexion contracture... |
OMIM:612079 |
| Cleidocranial Dysplasia 1 |
|
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Absent frontal sin... |
OMIM:119600 |
| 7Q11.23 Microduplication Syndrome |
|
High palate, Craniosynostosis, Short philtrum, Tracheomalacia, Retrognathia, Micrognathia, Unilat... |
ORPHA:96121 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Hypospadias, Tracheal stenosis, Tracheomalacia |
OMIM:217980 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Wide mouth, Short philtrum, Tapered finger, Tented upper lip vermilion, Flexion contracture, Unil... |
ORPHA:487796 |
| Endocrine-Cerebroosteodysplasia |
|
Cleft upper lip, Ulnar deviation of the hand, Malar flattening, Cleft palate, Micropenis, Microgn... |
OMIM:612651 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Tracheal stenosis, Tracheal calcification, Hydronephrosis |
OMIM:302960 |
| Orofaciodigital Syndrome Type 5 |
|
Accessory oral frenulum, Absent cupid's bow, High, narrow palate, Hypodontia, Supernumerary tooth... |
ORPHA:2919 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Micropenis, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypop... |
OMIM:113000 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Tracheal stenosis, Abnormal bronchus morphology, Pulmonary artery stenosis, Tracheal calcificatio... |
ORPHA:79345 |
| Fused Mandibular Incisors |
|
Abnormality of the dentition, Advanced eruption of teeth |
ORPHA:2287 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Micrognathia, Crowded maxillary incisors, Stillbirth, Multiple unerupted teeth |
OMIM:183300 |
| Primary Hyperoxaluria |
|
Failure to thrive, Recurrent fractures, Chronic kidney disease, Abnormality of the dentition, Cal... |
ORPHA:416 |
| Heimler Syndrome 1 |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:234580 |
| Galactosemia Ii |
|
Cataract, Prolonged neonatal jaundice |
OMIM:230200 |
| Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami |
OMIM:141300 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Osteopenia, Osteoarthritis, Leukopeni... |
ORPHA:77259 |
| Atkin-Flaitz Syndrome |
|
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Tapered finger, Genu valgu... |
OMIM:300431 |
| Hall-Riggs Syndrome |
|
Failure to thrive, Wide mouth, Joint stiffness, Brachydactyly, Delayed eruption of teeth, Downtur... |
ORPHA:2107 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Keratitis, Blepharitis, Folliculitis, Carious teeth, Enamel hypoplasia, Scarring alopecia of scal... |
OMIM:612843 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Scarring alopecia of scalp, Dental enamel pits, Carious teeth |
OMIM:619787 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
High palate, Dental crowding, Overjet, Decreased body weight, Persistence of primary teeth, Hypod... |
OMIM:618342 |
| Rubinstein-Taybi Syndrome 2 |
|
High palate, Dental malocclusion, Narrow palate, Retrognathia, Micrognathia, Syndactyly, Carious ... |
OMIM:613684 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Enlarged kidney, Proteinuria, Nephrotic syndrome, Flexion contracture, Splenomegaly... |
OMIM:617303 |
| Craniometadiaphyseal Dysplasia |
|
High palate, Sclerosis of skull base, Broad long bones, Malar flattening, Osteopenia, Flared meta... |
OMIM:269300 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Congenital hip dislocation, Hypoplastic pelvis, Umbilical hernia, Aplasia of the distal phalanx o... |
OMIM:308050 |
| Hamamy Syndrome |
|
High palate, Wide mouth, Craniosynostosis, Osteopenia, Down-sloping shoulders, Tapered finger, Cl... |
OMIM:611174 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Abnormal cortical bone morphology, Osteolysis, Reduced bone mineral density |
ORPHA:970 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Tracheal stenosis, Abnormal bronchus morphology |
ORPHA:93352 |
| Cleidocranial Dysplasia |
|
Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruption of teeth, Ta... |
ORPHA:1452 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Cleft palate, Unilateral renal agenesis, Abnormality of the kidn... |
OMIM:118100 |
| Orofaciodigital Syndrome Type 2 |
|
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Complete duplicati... |
ORPHA:2751 |
| Dyskeratosis Congenita |
|
Recurrent fractures, Periodontitis, Taurodontia, Blepharitis, Hypodontia, Hepatomegaly, Splenomeg... |
ORPHA:1775 |
| Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... |
ORPHA:363417 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Wide mouth, Elbow ankylosis, Cleft palate, Symphalangism affecting the phalanges of the hand, Man... |
ORPHA:2658 |
| Trichoodontoonychial Dysplasia With Bone Deficiency |
|
Enamel hypoplasia, Anodontia |
OMIM:275450 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... |
ORPHA:1916 |
| Renal Hypoplasia |
|
Chronic kidney disease, Small for gestational age, Abnormal renal tubule morphology, Unilateral r... |
ORPHA:93101 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Dislocation of the femoral head, Hyperextensibility of the finger joints, Congenital hip dislocat... |
OMIM:619797 |
| Potocki-Shaffer Syndrome |
|
Micropenis, Micrognathia, Short philtrum, Nephroblastoma, Downturned corners of mouth, Anemia, De... |
ORPHA:52022 |
| Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Eruption failure, Maxillozygomatic hypoplasia, Genu valgum, Alveolar process hypoplasia, Multiple... |
OMIM:273050 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Anodontia, Tooth agenesis, Agenesis of premolar, Hypodontia, Agenesis of molar, Agenesis of later... |
OMIM:313500 |
| Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Short hallux, Oligodontia of primary teeth, Sandal gap, Cleft soft palate |
OMIM:216300 |
| Rothmund-Thomson Syndrome |
|
Abnormality of the dentition, Osteopenia, Aplastic anemia, Microdontia, Delayed eruption of teeth... |
ORPHA:2909 |
| Hydrolethalus |
|
Tracheal atresia |
ORPHA:2189 |
| Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
High palate, Failure to thrive, Anodontia, Dental malocclusion, Narrow palate, Supernumerary toot... |
OMIM:264475 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology |
OMIM:612529 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypophosphatemic rickets, Medullary nephrocalcinosis, Genu varum, Carious teeth, Genu valgum, Hyp... |
OMIM:613312 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... |
OMIM:618841 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
High palate, Cleft palate, Small finger, Hypoplasia of the maxilla, Clinodactyly of the 5th finge... |
OMIM:170390 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Dental crowding, Joint stiffness, Hypodontia, Cleft palate, Short long bone, Hypospadias, Oligodo... |
OMIM:619184 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
| Isolated Agammaglobulinemia |
|
Failure to thrive, Sinusitis, Cellulitis, Otitis media, Skin rash, Abnormal lymphocyte morphology... |
ORPHA:229717 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
| Premature Aging Syndrome, Penttinen Type |
|
Lipoatrophy, Thin vermilion border, Micrognathia, Osteopenia, Brachydactyly, Delayed eruption of ... |
OMIM:601812 |
| Cockayne Syndrome Type 2 |
|
Widely spaced primary teeth, Anodontia, Hypoplasia of the primary teeth, Conjunctivitis, Flexion ... |
ORPHA:90322 |
| Diaphanospondylodysostosis |
|
Talipes equinovarus, Cleft palate, Inguinal hernia, Tracheomalacia, Micrognathia, Nephrogenic res... |
OMIM:608022 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Taurodontia, Abnormality of the dentition, Camptodactyly of finger, Large hands, Abnormal dental ... |
ORPHA:3220 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Gingival overgrowth, Stillbirth, Hepatomegaly, Increased bone mineral density, Decreased osteocla... |
OMIM:259720 |
| Kallmann Syndrome With Spastic Paraplegia |
|
High palate, Unilateral renal agenesis, Eunuchoid habitus, Micropenis |
OMIM:308750 |
| Desmosterolosis |
|
Failure to thrive, Narrow mouth, Renal hypoplasia/aplasia, Increased bone mineral density, Cleft ... |
ORPHA:35107 |
| Cerebellofaciodental Syndrome |
|
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor, Clinodactyl... |
OMIM:616202 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia, Abnormality of the gingiva |
ORPHA:517 |
| Beemer-Ertbruggen Syndrome |
|
Micrognathia, Thrombocytopenia, Increased bone mineral density, Deep philtrum |
ORPHA:1237 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Talipes equinovarus, Adducted thumb, Unilateral renal agenesis, Osteopenia, Hernia, Hip dislocation |
OMIM:616603 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... |
OMIM:614842 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Failure to thrive, Wide mouth, Hepatomegaly, Aminoaciduria, Flexion contracture, Retrognathia, Mi... |
OMIM:604273 |
| Trichorhinophalangeal Syndrome, Type I |
|
Dental malocclusion, Narrow palate, Flat capital femoral epiphysis, Cone-shaped epiphyses of the ... |
OMIM:190350 |
| Coach Syndrome 1 |
|
Wide mouth, Hepatomegaly, Nephronophthisis, Splenomegaly, Unilateral renal agenesis, Postaxial ha... |
OMIM:216360 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Hypodontia, Small for gestational age, Thin vermilion border, Unilateral renal agenesis, Bifid di... |
OMIM:618419 |
| Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Oligomenorrhea, Primary ame... |
OMIM:615300 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent fractures, Osteomyelitis, Cleft palate, Cellulitis, Craniosynostosis, Abnormality of th... |
ORPHA:2314 |
| Acrofacial Dysostosis, Weyers Type |
|
Clinodactyly of the 5th finger, Hypodontia, Small hand, Abnormality of the dentition, Overlapping... |
ORPHA:952 |
| Pseudohypoparathyroidism Type 1C |
|
Short fifth metatarsal, Increased bone mineral density, Ectopic ossification, Brachydactyly, Dela... |
ORPHA:79444 |
| Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Thyroiditis, Eczema, Osteoporosis, Macrocytic anemia, Enamel hypoplasia, Stoma... |
OMIM:212750 |
| Metatropic Dysplasia |
|
Joint stiffness, Halberd-shaped pelvis, Coarse metaphyseal trabecularization, Clinodactyly of the... |
ORPHA:2635 |
| Orofaciodigital Syndrome Vi |
|
High palate, Failure to thrive, Cleft upper lip, Accessory oral frenulum, Mesoaxial hand polydact... |
OMIM:277170 |
| Mucolipidosis Ii Alpha/Beta |
|
Wide mouth, Hepatomegaly, Craniosynostosis, Osteopenia, Bullet-shaped phalanges of the hand, Enla... |
OMIM:252500 |
| Diastrophic Dysplasia |
|
Costal cartilage calcification, Hip contracture, Laryngotracheal stenosis |
OMIM:222600 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Multiple joint contractures, Narrow mouth, Microretrognathia, Severe failure to thrive, Craniosyn... |
ORPHA:468631 |
| Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
| Sjogren-Larsson Syndrome |
|
Enamel hypoplasia, Flexion contracture |
OMIM:270200 |
| Nail-Patella Syndrome |
|
Abnormality of femur morphology, Proximal finger joint hyperextensibility, Limited pronation/supi... |
ORPHA:2614 |
| Atkin-Flaitz Syndrome |
|
Maxillary lateral incisor microdontia, Everted lower lip vermilion, Abnormality of the dentition,... |
ORPHA:1193 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Tracheal stenosis, Recurrent respiratory infections |
ORPHA:2637 |
| Eem Syndrome |
|
Ectrodactyly, Finger syndactyly, Microdontia, Carious teeth, Widely spaced teeth, Abnormality of ... |
ORPHA:1897 |
| H Syndrome |
|
Cleft upper lip, Recurrent fractures, Gingival overgrowth, Histiocytosis, Micropenis, Abnormality... |
ORPHA:168569 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Keratitis, Cleft palate, Inguinal hernia, Unilateral renal agenesis, Multicystic kidney dysplasia... |
OMIM:308205 |
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Metaphyseal dysplasia, Patchy sclerosis of finger phalanx, Flared metaphysis, Club-shaped distal ... |
OMIM:218400 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Cataract |
OMIM:273680 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
High palate, Talipes equinovarus, Cleft palate, Small hand, Micrognathia, Osteopenia, Hypospadias... |
OMIM:611209 |
| Intellectual Disability And Myopathy Syndrome |
|
Dental malocclusion, Atopic dermatitis, Congenital hip dislocation, Limited elbow extension, Inci... |
OMIM:619719 |
| Camurati-Engelmann Disease |
|
Abnormality of femur morphology, Hepatomegaly, Abnormality of the humerus, Delayed eruption of te... |
ORPHA:1328 |
| Frontometaphyseal Dysplasia 1 |
|
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Delayed er... |
OMIM:305620 |
| Hypophosphatasia |
|
Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Bowing of the long bones, Ab... |
ORPHA:436 |
| X-Linked Non-Syndromic Intellectual Disability |
|
2-3 toe syndactyly, Shortening of all distal phalanges of the fingers, Small for gestational age,... |
ORPHA:777 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
High palate, Cleft palate, Craniosynostosis, Large for gestational age, Hypoplasia of the maxilla... |
OMIM:213980 |
| Neurofaciodigitorenal Syndrome |
|
Unilateral renal agenesis, Triphalangeal thumb |
OMIM:256690 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Taurodontia, High, narrow palate, Short philtrum, Macrodontia, Delayed eruption of teeth |
ORPHA:3214 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Malar flattening, Craniosynostosis, Thin vermilion border, Micrognathia, Micropenis, Renal agenes... |
ORPHA:171839 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Short distal phalanx of finger, Dental malocclusion, Short distal phalanx of toe, Short 1st metac... |
OMIM:601957 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Narrow mouth, Renal hypoplasia/aplasia, Hypoplasia of penis, Splenomegaly, Thin vermilion border,... |
ORPHA:1046 |
| Teebi Hypertelorism Syndrome 2 |
|
High palate, Clinodactyly of the 5th finger, Cleft palate, Everted lower lip vermilion, Hypospadi... |
OMIM:619736 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Abnormality of the urinary system, Urethral stricture, Carious teeth, Atro... |
ORPHA:79409 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Skin rash, Anemia, Palmoplantar pustulosis, Inflammation of the large intestine, A... |
ORPHA:324964 |
| Carpenter Syndrome 1 |
|
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Sagittal craniosynostosis, G... |
OMIM:201000 |
| Immunodeficiency 33 |
|
Delayed eruption of teeth, Conical tooth, Hypodontia |
OMIM:300636 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
High palate, Failure to thrive, Malar flattening, Adducted thumb, Hypospadias, Enamel hypoplasia,... |
OMIM:618874 |
| Tetrasomy 12P |
|
Thick upper lip vermilion, Abnormal soft palate morphology, Everted lower lip vermilion, Cachexia... |
ORPHA:884 |
| Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis |
|
Enamel hypoplasia, Increased overbite, Shovel-shaped maxillary central incisors, Dental crowding |
OMIM:600907 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
High palate, Dental crowding, Talipes equinovarus, Macroglossia, Long philtrum, Delayed eruption ... |
OMIM:616354 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Dental malocclusion, 3-4 toe syndactyly, Persistence of primary teeth, Malar flattening, Oligodon... |
OMIM:618727 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Corneal scarring, Narrow mouth, Oral mucosal blisters, Flexion contracture, Enamel hypoplasia, At... |
OMIM:226600 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Short distal phalanx of finger, Everted lower lip vermilion, Delayed eruption of teeth, Microdont... |
ORPHA:181 |
| Jalili Syndrome |
|
Amelogenesis imperfecta, Carious teeth |
OMIM:217080 |
| Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis |
|
Hematocolpos, Uterus didelphys, Partial vaginal septum |
OMIM:192050 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Failure to thrive, Dental malocclusion, Narrow mouth, Macrodontia of permanent maxillary central ... |
OMIM:257850 |
| Testicular Agenesis |
|
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... |
ORPHA:325124 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Retrognathia, Unilateral renal agenesis, Renal agenesis, Fused cervical vertebrae, Submucous clef... |
OMIM:619227 |
| Chromosome 17Q12 Deletion Syndrome |
|
High palate, Hypoplasia of the bladder, Upper limb undergrowth, Mandibular prognathia, Stage 5 ch... |
OMIM:614527 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Arthralgia of the hip, Premature osteoarthritis, Knee osteoarthrit... |
ORPHA:93284 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Premature loss of teeth, Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopenia, Gingivitis,... |
OMIM:618107 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Tooth agenesis, Everted lower lip vermilion, Advanced eruption of teeth, Delayed eruption of teet... |
ORPHA:1028 |
| Schwartz-Jampel Syndrome |
|
