Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Proximal Myopathy With Focal Depletion Of Mitochondria |
|
Elevated circulating creatine kinase concentration |
OMIM:600706 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate... |
OMIM:311895 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... |
OMIM:249710 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft... |
ORPHA:3104 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra... |
OMIM:224300 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variatio... |
OMIM:215140 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent... |
ORPHA:178303 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia |
OMIM:183300 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2222 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Micrognathia, Symphalangis... |
ORPHA:628 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v... |
OMIM:228520 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1248 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Opsismodysplasia |
|
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... |
OMIM:258480 |
Tarp Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Neonatal death, Antever... |
OMIM:311900 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Elbow di... |
ORPHA:2916 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Atelosteogenesis, Type I |
|
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Narrow chest, Neonatal death, Vertebra... |
OMIM:108720 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Cleft palate, Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology |
ORPHA:294975 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... |
ORPHA:2347 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia |
OMIM:172880 |
17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Anteverted nares, Abnormality of the dentition, Micrognathia, High pa... |
ORPHA:217340 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia |
OMIM:261800 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Depressed nasal bridg... |
ORPHA:2635 |
Costello Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Abnormal dental enamel morphology, Red... |
ORPHA:3071 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, 2-5 finger cutaneous syndactyly, Toe syndactyly, Small hypothenar eminence, Ab... |
ORPHA:3246 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Postaxial hand p... |
ORPHA:2935 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Joint stiffness, Micrognathia, Pectus excavatum, Abnormal thorax morphology, Flexion contracture,... |
ORPHA:1979 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Bowing of the long bones, Congenital hip dislocation, Redundant skin, Narrow nasal ri... |
OMIM:612940 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... |
ORPHA:2025 |
Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Abnormal palate morphology... |
ORPHA:1277 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
Leri Pleonosteosis |
|
Camptodactyly of finger, Joint stiffness, Elbow dislocation, Abnormal finger morphology, Lack of ... |
ORPHA:2900 |
Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Cubitus valgus, Humeroradial synost... |
OMIM:612961 |
Opsismodysplasia |
|
Abnormally ossified vertebrae, Depressed nasal bridge, Tapered finger, Joint stiffness, Pectus ex... |
ORPHA:2746 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, Bulbous nose, Tongue... |
OMIM:258850 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate, Micrognathia |
ORPHA:718 |
Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Death in... |
OMIM:256050 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal... |
OMIM:101800 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Parakeratosis, Congenital hip dislocation, Single transverse palmar crease... |
OMIM:308050 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal metacarpal morphol... |
ORPHA:2631 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys... |
ORPHA:166016 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract... |
ORPHA:93307 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Recurrent f... |
ORPHA:1782 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Protruding ear, Pectus carina... |
ORPHA:93315 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Bifid distal phalanx of the thumb, Short distal phalanx of hallux, Partial duplication of the dis... |
OMIM:256200 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carp... |
OMIM:620269 |
Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Distal widening of m... |
OMIM:602535 |
Momo Syndrome |
|
Delayed eruption of teeth, Underfolded helix, Short neck, Thick lower lip vermilion, Dental maloc... |
ORPHA:2563 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o... |
ORPHA:2669 |
Scarf Syndrome |
|
Low-set, posteriorly rotated ears, Craniosynostosis, Short neck, Wide nasal base, Hepatocellular ... |
ORPHA:3134 |
Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Micrognathia, Shor... |
ORPHA:2015 |
Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Cleft palate, High palate, Clinodactyly of the 5th fi... |
ORPHA:376 |
Momo Syndrome |
|
Delayed eruption of teeth, Underfolded helix, Short neck, Thick lower lip vermilion, Dental maloc... |
OMIM:157980 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Smooth philtrum, Ulnar deviation of the hand, Posteriorly rotated ears, Proximal placement of thu... |
OMIM:620113 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Narrow chest, Short phalanx of finger, B... |
ORPHA:56304 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Redundant neck skin, Micrognathia, Proximal femoral metaphyseal irregula... |
ORPHA:397715 |
Tarp Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, Small earlobe, Low-set, posteriorly ... |
ORPHA:2886 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate |
OMIM:600252 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Gastroesophageal reflux, Thi... |
ORPHA:79345 |
Isolated Congenital Hypoglossia/Aglossia |
|
Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Mic... |
ORPHA:141152 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Macrodontia, Small hand, Short foot, Short 5th finger, High palate, Cubitus valgus, Clinodactyly,... |
OMIM:300577 |
Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
Richieri Costa-Da Silva Syndrome |
|
Kyphoscoliosis, Abnormality of the dentition, Metatarsus adductus, Short neck, Limitation of join... |
ORPHA:3101 |
Scarf Syndrome |
|
Barrel-shaped chest, Posteriorly rotated ears, Prominent nasal bridge, Short neck, Wide nasal bri... |
OMIM:312830 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Abnormality of the ... |
ORPHA:3268 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Death in infancy, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality... |
ORPHA:163966 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Orofaciodigital Syndrome Type 10 |
|
Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ... |
ORPHA:2756 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Proximal placement of thumb, Micromelia, Micrognathia, High, nar... |
OMIM:122470 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Gm1 Gangliosidosis Type 1 |
|
Depressed nasal bridge, Spatulate ribs, Broad nasal tip, Macrotia, Gingival overgrowth, Pectus ca... |
ORPHA:79255 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Hearing impairment, Micrognathia, Capitate-hamate fusion, Short toe, Limited el... |
OMIM:614078 |
Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2026 |
Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... |
DECIPHER:46 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot |
OMIM:183700 |
Catel-Manzke Syndrome |
|
Camptodactyly of finger, Metatarsus valgus, Micrognathia, Radial deviation of the 2nd finger, Cle... |
ORPHA:1388 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Micrognathia, Short neck, Downturned corners of mouth, High palate, Thoracic kyphosis, Narrow che... |
ORPHA:163649 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ... |
ORPHA:3201 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
14Q11.2 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Toe syndactyly, Exaggerated cupid's bow, Depressed nasal bridg... |
ORPHA:261120 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Attached earlobe, Abnormal form of the vertebral bodies, Pectus carinatum,... |
ORPHA:1327 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
Neu-Laxova Syndrome |
|
Osteopenia, Micromelia, Micrognathia, Flexion contracture, Depressed nasal ridge, Bifid uvula, Os... |
ORPHA:2671 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Narrow mouth, Abnormal form of the vertebral bodies, Reduced b... |
ORPHA:2370 |
Schneckenbecken Dysplasia |
|
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat... |
OMIM:269250 |
Arthrogryposis, Distal, Type 1C |
|
Pursed lips, Hip contracture, Rocker bottom foot, Camptodactyly of finger, Shoulder flexion contr... |
OMIM:619110 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent... |
ORPHA:1350 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Coxa valga, Protruding tongue, Thoracolumbar kyphosis, Gingival overgrowth, Dysp... |
OMIM:230600 |
Donnai-Barrow Syndrome |
|
Posteriorly rotated ears, Intestinal malrotation, Depressed nasal bridge, Broad nasal tip, Wide a... |
OMIM:222448 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Pectus excavatum, Postaxi... |
ORPHA:2752 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Hip contracture, Necrotizing enterocolitis, Toe syndactyly, Anteverted nares, Depress... |
OMIM:616809 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu... |
OMIM:602418 |
Mucopolysaccharidosis, Type Iiid |
|
Thoracic scoliosis, Thickened ribs, Short neck, Ovoid thoracolumbar vertebrae, Hypoplastic verteb... |
OMIM:252940 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
Werner Syndrome |
|
Increased bone mineral density, Miscarriage, Rocker bottom foot, Convex nasal ridge, Joint stiffn... |
ORPHA:902 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Short metatarsal, High palate, Thickened helices, Broad ribs, Broad me... |
OMIM:608328 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Depressed nasal bridge, Mi... |
ORPHA:166272 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, Selective tooth agenesis, 1-4 finger syndactyly, Split hand, 2-3 finger sy... |
OMIM:225280 |
Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m... |
OMIM:618371 |
Lamellar Ichthyosis |
|
Abnormality of the dentition, Pruritus, Lack of skin elasticity, Hyperkeratosis, Everted lower li... |
ORPHA:313 |
Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
Non-Distal Duplication 10Q |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Pectus excavatum, Joint ... |
ORPHA:1695 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros... |
OMIM:616331 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
Geleophysic Dysplasia 1 |
|
Short palm, Osteopenia, Anteverted nares, Camptodactyly of finger, Coxa valga, Joint stiffness, P... |
OMIM:231050 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Catifa Syndrome |
|
Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Long philtrum, Tooth malp... |
OMIM:618761 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Irregular vertebral endplates, High palate, Amelogenesis imp... |
OMIM:618363 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Micrognathia, Clinodactyly, Prominent fingertip pads, Broad hallux, Cleft soft palate, Anteverted... |
OMIM:618529 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Charlie M Syndrome |
|
Finger syndactyly, Micrognathia, Narrow mouth, Non-midline cleft lip, Split hand, Tooth agenesis,... |
ORPHA:1406 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Macroglossia, Short long bone, Flared elbow metaphyses, Limb undergrowth |
ORPHA:1423 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh... |
OMIM:300244 |
Caudal Regression Syndrome |
|
Joint stiffness, Missing ribs, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, ... |
ORPHA:3027 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Pectus carinatum, Downturned corner... |
ORPHA:955 |
Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Vertebral clefting, Dental malocclusion, Large earlobe, Short columella, ... |
OMIM:155050 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ... |
OMIM:251450 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Hypercon... |
OMIM:184255 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Dental crowding, Micrognathia, Kyphosis, Sensorineural hearing impairment, Osteoporosis, Lack of ... |
OMIM:615381 |
Rubinstein-Taybi Syndrome 2 |
|
Intestinal malrotation, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow pala... |
OMIM:613684 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ... |
OMIM:156530 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
High palate, Clinodactyly of the 5th finger, Genu varum, Joint laxity, Syndactyly, Lumbar hyperlo... |
OMIM:619451 |
Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Femoral-Facial Syndrome |
|
Micrognathia, Coxa vara, Orofacial cleft, Sprengel anomaly, Vertebral segmentation defect, Aplasi... |
ORPHA:1988 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... |
ORPHA:2325 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Depressed nasal brid... |
OMIM:620076 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Micrognathia... |
OMIM:258860 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,... |
ORPHA:957 |
Orofaciodigital Syndrome Xix |
|
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ... |
OMIM:620107 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Micrognathia, Shor... |
OMIM:257300 |
Lethal Osteosclerotic Bone Dysplasia |
|
Posteriorly rotated ears, Anteverted nares, Micrognathia, Short neck, Depressed nasal ridge, Ging... |
ORPHA:1832 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Spinal Dysplasia, Anhalt Type |
|
Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Coxa vara, Absent spinou... |
OMIM:601344 |
Osseous Heteroplasia, Progressive |
|
Limb undergrowth |
OMIM:166350 |
Odontochondrodysplasia 1 |
|
Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx of finger, Genu v... |
OMIM:184260 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Craniosynostosis, Micrognathia, Split hand, Abnormal rib morpholog... |
ORPHA:2145 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
Distal Duplication 18Q |
|
Low-set, posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Abnormal dental morph... |
ORPHA:1716 |
Acromicric Dysplasia |
|
Short metacarpal, Anteverted nares, Ovoid vertebral bodies, Joint stiffness, Narrow mouth, Bulbou... |
ORPHA:969 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Chung-Jansen Syndrome |
|
Anteverted nares, Tapered finger, Micrognathia, Large earlobe, Hip dysplasia, Thin vermilion bord... |
OMIM:617991 |
Pierpont Syndrome |
|
Short neck, Large fleshy ears, Widely spaced teeth, Short palm, Prominent fingertip pads, Short t... |
OMIM:602342 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia |
OMIM:300484 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Natal tooth, Sandal gap, Acantholysis, Widely spaced toes, Neonatal death, Mitten def... |
OMIM:609638 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease... |
OMIM:269150 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta |
ORPHA:71267 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Cleft palate, Glossoptosis, Long philtrum, Abnormal metacarpal morphology |
ORPHA:166100 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Hypodontia |
ORPHA:63442 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... |
ORPHA:2521 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Posteriorly rotated ears, Anteverted nares, Hearing impairment, Microgn... |
OMIM:613604 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal... |
ORPHA:1427 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Elevated circulating creatine kinase concentration |
OMIM:160570 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Beaking of vertebral bodies, Brachydactyly, Anteverted nares, Depressed nasal bridge, Increased i... |
OMIM:618961 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Mandibular prognathia, Sandal gap, Abnormal pinna morphology, Depressed nasal bridg... |
OMIM:300354 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Furrowed tongue, Ulnar deviation of finger, Abnormal pelvic ... |
ORPHA:2928 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi... |
OMIM:618729 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Death in infancy, Toe syndactyly, Median cleft lip, Depressed nasal brid... |
OMIM:241800 |
Aase-Smith Syndrome |
|
Multiple joint contractures, Abnormal pinna morphology, Camptodactyly of finger, Joint stiffness,... |
ORPHA:916 |
Rhizomelic Syndrome, Urbach Type |
|
Rhizomelia, Acne, Depressed nasal bridge, Micrognathia, Abnormality of the humerus, Preaxial hand... |
ORPHA:3098 |
Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau... |
ORPHA:3352 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Deep philtrum, Narrow chest, Death in ch... |
OMIM:613320 |
Radio-Tartaglia Syndrome |
|
Dental crowding, Micrognathia, High, narrow palate, High palate, Short philtrum, Gastroesophageal... |
OMIM:619312 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... |
OMIM:603543 |
Atkin-Flaitz Syndrome |
|
Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor... |
ORPHA:1193 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Micrognathia, Multiple prenatal fractures, Short neck, Beaded ribs, Flexion contractu... |
OMIM:616897 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Short femur, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Intellectual Disability, Birk-Barel Type |
|
Tented upper lip vermilion, Micrognathia, High, narrow palate, Incisor macrodontia, Short philtru... |
ORPHA:166108 |
Huriez Syndrome |
|
Dry skin, Lack of skin elasticity, Palmoplantar keratoderma |
ORPHA:384 |
Familial Scaphocephaly Syndrome, Mcgillivray Type |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Open bite, High palate |
ORPHA:168624 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol... |
ORPHA:3429 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Depressed nasal bridge, Postaxial polydactyly, Cario... |
OMIM:617102 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic... |
ORPHA:93316 |
Zimmermann-Laband Syndrome 3 |
|
Aplasia of the distal phalanx of the 5th toe, Thick lower lip vermilion, Gingival overgrowth, Abs... |
OMIM:618658 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... |
OMIM:605282 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, Dental crowding, High palate, Conductive hearing impairment, Clinodactyly of the 5th ... |
OMIM:617877 |
C Syndrome |
|
Micromelia, Micrognathia, Clinodactyly, High palate, Dislocated radial head, Short metacarpal, An... |
OMIM:211750 |
Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
Campomelic Dysplasia |
|
Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,... |
OMIM:114290 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... |
ORPHA:2496 |
Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micromelia, Bowing of the legs, Micrognathia, Short neck, Flexion contracture, Narrow chest, Anis... |
ORPHA:1865 |
Acrodysostosis |
|
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Depressed nasal r... |
ORPHA:950 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Irregular vertebral endplates, Hyperextensible skin, High palate, Short phalanx of fi... |
OMIM:612350 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Death in infancy, Camptodactyly of finger, Micrognathia, Protruding ear, Gastroesophageal reflux,... |
ORPHA:1495 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Abnormality of radial epiphyses, Arthralgia of the hip... |
ORPHA:166002 |
Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... |
OMIM:206920 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly |
OMIM:615938 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath... |
OMIM:227270 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
Dentin Dysplasia |
|
Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i... |
ORPHA:457395 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia |
OMIM:615502 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Joint laxity, Thin upper lip vermilion, Sacral dimple, Prominent nasal bridge, Single transverse ... |
OMIM:613544 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Palmoplantar keratoderma, Lack of skin elasticity, Joint stiffness |
ORPHA:1366 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Malar flattening, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Coron... |
OMIM:118651 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Sandal gap, Exaggerated cupid's bow, Anteverted nares, Depressed nasal ... |
OMIM:617752 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Depressed nasal bridge, Ovoid vertebral bodies, Joint stiffness, Hyperl... |
ORPHA:40 |
Liebenberg Syndrome |
|
Metaphyseal widening, Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contractur... |
OMIM:186550 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Abnormal pinna morphology, Acantholysis, 4-5 finger syndactyly, 2-3 finger syndactyl... |
ORPHA:158687 |
Gm1-Gangliosidosis, Type I |
|
Death in infancy, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Depressed nasal ridge, G... |
OMIM:230500 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Coxa valga, Hypoplastic vertebral bodies, Lambdoidal craniosynostosis, Coronal craniosynostosis, ... |
OMIM:601370 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Pectus carinatum, Vertebral segmentation defect, Narrow greater sciatic no... |
OMIM:312870 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Short neck, Abnormal hand... |
OMIM:200600 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Depressed nasal bridge, Broad na... |
OMIM:619736 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short neck, Knee flexi... |
OMIM:114300 |
Ulbright-Hodes Syndrome |
|
Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Short metacarpa... |
ORPHA:3404 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Malabsorption |
ORPHA:99811 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia... |
OMIM:192445 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Hearing impairment, Abnormality of the dentition, Flexion co... |
ORPHA:90153 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of finger, Prominent nasal bri... |
ORPHA:1703 |
Acrocephalopolydactyly |
|
Short neck, Depressed nasal ridge, Short long bone, Microtia, Limb undergrowth, Short nose, Thora... |
ORPHA:221054 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Cenani-Lenz Syndrome |
|
Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Protruding ear, Foot olig... |
ORPHA:3258 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Joint stiffness, Micrognathia, Missin... |
ORPHA:1801 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Craniosynosto... |
ORPHA:171839 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Micrognathia, Shor... |
OMIM:255800 |
Ring Chromosome 8 Syndrome |
|
Anteverted nares, Deviation of finger, Round ear, Short nose, Abnormal palate morphology |
ORPHA:1450 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Anteverted nares, Recurrent fractures, Micromelia, Abnormal enchondral os... |
ORPHA:93299 |
Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Conical tooth, Prominent interphalangeal joints, Short philtrum,... |
OMIM:135900 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo... |
ORPHA:1458 |
Otopalatodigital Syndrome Type 1 |
|
Proximal placement of thumb, Oligodontia, Short palm, Abnormal vertebral segmentation and fusion,... |
ORPHA:90650 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Depresse... |
OMIM:151210 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... |
ORPHA:2751 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Short neck, Depressed nasal ridge, Triangular shape... |
OMIM:271665 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Single transverse palmar crease, Hemivertebrae, Coxa vara, Pectus carinatum, Gastroesophageal ref... |
OMIM:614701 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Redundant skin, Micrognathia, Hyperextensible skin, Short phalanx of finger, Joint la... |
OMIM:225410 |
Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Micromelia, Abnormal thumb morpholo... |
ORPHA:1597 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,... |
ORPHA:439822 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Short palm,... |
OMIM:268310 |
Whistling Face Syndrome, Recessive Form |
|
Shoulder flexion contracture, Micrognathia, Whistling appearance, Trismus, Elbow flexion contract... |
OMIM:277720 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Achondrogenesis Type 1B |
|
Anteverted nares, Micromelia, Abnormal enchondral ossification, Micrognathia, Short neck, Short t... |
ORPHA:93298 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Rocker bottom foot, Posteriorly rotated ears, Anteverted nares, Wide mou... |
OMIM:618506 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A... |
ORPHA:971 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Posteriorly rotated ears, Craniosynostosis, Microm... |
ORPHA:93329 |
15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short... |
OMIM:611717 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Small hand, Downturned corners of mouth, Wide mouth, High ... |
OMIM:618779 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... |
OMIM:300602 |
Anauxetic Dysplasia 3 |
|
Femoral bowing, Oligodontia, Gastroesophageal reflux, Narrow chest, Trident hand, Short metacarpa... |
OMIM:618853 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hypoplasia of the ca... |
OMIM:215150 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Acromicric Dysplasia |
|
Short metacarpal, Narrow mouth, Deep philtrum, Thick lower lip vermilion, Short foot, Cone-shaped... |
OMIM:102370 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Hypoplasia ... |
OMIM:305400 |
Filippi Syndrome |
|
Thin vermilion border, Short philtrum, Hypodontia, Microdontia, Serrated incisors |
OMIM:272440 |
Trichodentoosseous Syndrome |
|
Microdontia, Taurodontia, Widely spaced teeth |
OMIM:190320 |
Fibrochondrogenesis 2 |
|
Anteverted nares, Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal w... |
OMIM:614524 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Dental cr... |
OMIM:617201 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Osteoarthritis, Sensorineural hearing impairment, Cleft palate, Joint ... |
ORPHA:90653 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Craniosynostosis, Coxa valga, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Short... |
ORPHA:2163 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Thin upper lip vermilion, Abnormal pinna morphology, Perianal abscess, Pectus excavatum, Small ha... |
OMIM:614684 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Aarskog-Scott Syndrome |
|
Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Orofacial cleft, Hyperext... |
ORPHA:915 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Short thorax,... |
ORPHA:85166 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micrognathia, Short neck, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Narrow greate... |
OMIM:617925 |
Infantile Liver Failure Syndrome 3 |
|
Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver... |
OMIM:618641 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Abnormal form of the vertebral... |
ORPHA:2710 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Triangular mouth, Genu valgum, Cutaneous syndactyly, Clinodactyl... |
ORPHA:166024 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Abse... |
ORPHA:79113 |
Gurrieri Syndrome |
|
Hypoplastic acetabulae, Decreased anterioposterior diameter of lumbar vertebral bodies, Hypoplast... |
OMIM:601187 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Short humerus, Short metacarpal, Wide nose, Rhizomelia, Hyperlordosis, Dep... |
ORPHA:2831 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... |
ORPHA:2712 |
Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Thin upper lip vermilion, Branchial cyst, Anteverted nares, Short... |
OMIM:615583 |
Ramon Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morphology, Narrow palate |
ORPHA:3019 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micrognathia, Short thumb... |
OMIM:600325 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Anteverted nares, Hea... |
ORPHA:2701 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Camptodactyly of finger, Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperker... |
OMIM:212360 |
17P13.3 Microduplication Syndrome |
|
Wide nose, Congenital hip dislocation, Short neck, High palate, Low-set ears, Narrow mouth, Clino... |
ORPHA:217385 |
Perlman Syndrome |
|
Posteriorly rotated ears, Anteverted nares, Micrognathia, High, narrow palate, Short nose, Wide n... |
ORPHA:2849 |
Osteoglophonic Dysplasia |
|
Osteopenia, Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt... |
OMIM:166250 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Abnormal pinna morphology, Depress... |
ORPHA:35173 |
Non-Distal Duplication 13Q |
|
Arachnodactyly, Abnormality of the dentition, Micrognathia, Postaxial hand polydactyly, Aplasia/H... |
ORPHA:1702 |
Achondrogenesis |
|
Anteverted nares, Micromelia, Abnormal enchondral ossification, Micrognathia, Short neck, Short t... |
ORPHA:932 |
Monosomy 5P |
|
Microretrognathia, Finger syndactyly, High palate, Small hand |
ORPHA:281 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Sprengel anomaly, G... |
OMIM:134780 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges ... |
OMIM:113000 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Orofaciodigital Syndrome Xi |
|
Kyphoscoliosis, Postaxial polydactyly, Hypoplasia of the odontoid process, Bulbous nose, Wide nas... |
OMIM:612913 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Dental crowding, Single transverse palmar crease, Micrognathia, Oligodontia, High palate, Short p... |
OMIM:617061 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Micrognathia, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyl... |
OMIM:614669 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... |
OMIM:603546 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly |
OMIM:600384 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Epiphyseal dysplasia, Enlarged epiphyses, Anteverted nares, Depressed nasal bridge, Sensorineural... |
OMIM:184840 |
Vascular Malformation, Primary Intraosseous |
|
Ectopic tooth eruption, Gingival bleeding |
OMIM:606893 |
Dimethylglycine Dehydrogenase Deficiency |
|
Elevated circulating N,N-dimethylglycine concentration, Elevated circulating creatine kinase conc... |
OMIM:605850 |
Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
Intellectual Disability And Myopathy Syndrome |
|
Widely-spaced maxillary central incisors, Thin upper lip vermilion, Dental malocclusion, Incisor ... |
OMIM:619719 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Ulnar dev... |
ORPHA:1529 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Low-set, posteriorly rotated ears, Sandal gap, Arachnodactyly, Micromelia, Anteverted nares, Genu... |
ORPHA:1035 |
Stickler Syndrome, Type I |
|
Micrognathia, Osteoarthritis, Conductive hearing impairment, Bifid uvula, Arachnodactyly, Antever... |
OMIM:108300 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly |
OMIM:614526 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Thin upper lip vermilion, Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of... |
ORPHA:370010 |
Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Acne, Skin rash, Pruritus, Abnormal thorax morphology, Lack of skin ... |
ORPHA:758 |
Ophthalmomandibulomelic Dysplasia |
|
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Temporomandibul... |
ORPHA:2741 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion |
ORPHA:181 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... |
OMIM:300232 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Micrognathia, High, narrow palate, Flexion contracture, Knee flexion... |
ORPHA:536516 |
Raine Syndrome |
|
Mandibular prognathia, Micromelia, Micrognathia, Short neck, Protruding ear, High palate, Choanal... |
OMIM:259775 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Micrognathia, Short neck, Tibial bowing, Femoral bowing, Knee fl... |
OMIM:601559 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Micrognathia, High, narrow palate, Conductive hearing impairment, Large iliac wing, Spina bifida ... |
ORPHA:2780 |
Eem Syndrome |
|
Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Ectrodact... |
ORPHA:1897 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Osteopenia, Smooth philtrum, Thin upper lip vermilion, Abnormality of the hand, Abnormality of th... |
ORPHA:576283 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Joint stiffness, ... |
ORPHA:2107 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Downturned corners of mouth, Hypoplastic vertebral bodies, Short philtrum, Premature ... |
ORPHA:3455 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Underdeveloped nasal ala... |
OMIM:190351 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Short lingual frenulum, Micromelia, P... |
OMIM:614091 |
Pfeiffer Syndrome Type 2 |
|
Deviation of the thumb, High palate, Finger syndactyly, Broad hallux phalanx, Depressed nasal bri... |
ORPHA:93259 |
Achondroplasia |
|
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Micrognathia, Tooth agenesis, High palate... |
ORPHA:2863 |
Chondrodysplasia, Blomstrand Type |
|
Depressed nasal bridge, Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones... |
OMIM:215045 |
Cardioacrofacial Dysplasia 2 |
|
Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Postax... |
OMIM:619143 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Redundant neck skin, Abnormal pinna morphology, Anteverted nares, Proximal placement ... |
OMIM:217980 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Short neck, Bifid nasal tip, Vertebral clefting, Depressed nasal ridge, Ato... |
OMIM:616854 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Smooth philtrum, Thin upper lip vermilion, Slender nose, Micrognathia, Pectus carinatum, Wide mou... |
OMIM:615419 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Narrow nasal bridge, Irregularity of vertebral bodies, Convex nasal ridge, Hypoplasia of the odon... |
ORPHA:85172 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Joint stiffness, Micrognathia, Long fingers, Ulnar deviation o... |
ORPHA:1895 |
Blomstrand Lethal Chondrodysplasia |
|
Micrognathia, Narrow chest, Distal shortening of limbs, Short metacarpal, Increased bone mineral ... |
ORPHA:50945 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Depressed nasal ridge, T... |
OMIM:300863 |
2Q32Q33 Microdeletion Syndrome |
|
Broad hallux phalanx, Arachnodactyly, Dental crowding, Anteverted nares, Micrognathia, Prominent ... |
ORPHA:251019 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Abnormality of the dentition, Micrognathia, Split hand, Abnormal pelvi... |
OMIM:157900 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Gastroin... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Gastroin... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Gastroin... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Gastroin... |
ORPHA:881 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Protruding ear, E... |
ORPHA:2616 |
Rafiq Syndrome |
|
Joint laxity, Smooth philtrum, Thin upper lip vermilion, Wide nose, Short neck, Prominent nose, B... |
OMIM:614202 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... |
ORPHA:1426 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Rhizomelia, Anteverted nares, Depressed nasal bridge, Micrognathia, Fl... |
OMIM:222765 |
Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Micrognathia, High palate, Short tibia, Vertebral hypoplasia, Ab... |
ORPHA:56305 |
Intellectual Developmental Disorder, Autosomal Dominant 62 |
|
Joint laxity, Arachnodactyly, Increased arm span, Scoliosis, Striae distensae |
OMIM:618793 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Anterior atlanto-occ... |
ORPHA:536467 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Esophageal stricture, Hyperkeratosis, Palmoplantar keratoderma, Hypodo... |
OMIM:616029 |
Peho-Like Syndrome |
|
Open mouth, Retrognathia, Short nose, Tapered finger |
OMIM:617507 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossification involving the ... |
ORPHA:1190 |
Orofaciodigital Syndrome Xv |
|
Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Midline notch of uppe... |
OMIM:617127 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Avascular necros... |
OMIM:132400 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal... |
ORPHA:90652 |
Pseudoachondroplasia |
|
Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Ost... |
OMIM:177170 |
Diamond-Blackfan Anemia 1 |
|
Micrognathia, Short neck, Depressed nasal ridge, Hypoplastic coccygeal vertebrae, High palate, Pa... |
OMIM:105650 |
Saccharopinuria |
|
Citrullinuria, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality of circul... |
ORPHA:3124 |
Baralle-Macken Syndrome |
|
High, narrow palate, Kyphosis, Striae distensae, Tapered finger |
OMIM:619255 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia... |
ORPHA:989 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Abnormality of t... |
ORPHA:1515 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Mandibular prognathia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thorac... |
OMIM:271510 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger, Short thumb, Palmoplantar... |
ORPHA:2251 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Joint laxity, Multiple joint contractures, Spinal rigidity, Pectus excavatum, Abnormal elasticity... |
ORPHA:486815 |
Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m... |
ORPHA:952 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro... |
ORPHA:63446 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Redundant skin, Cervical kyphosis, Decreased palmar creases, Generalized joint laxity, Protruding... |
ORPHA:2953 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Femoral bowing, Shor... |
OMIM:616723 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o... |
OMIM:268305 |
Congenital Velopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Abnormal palate morphology |
ORPHA:2291 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, ... |
OMIM:601812 |
Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Congenital hip dislocation, Soft skin, Generalized joint laxity, Hyperextensible skin, Talipes eq... |
OMIM:130010 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in early adulthood, Acantholysis, Palmoplantar hyperkeratosis, Death in adolescence, Tooth ... |
OMIM:605676 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Dental enamel pits |
OMIM:619787 |
Epilepsy, Progressive Myoclonic, 9 |
|
Short thumb, Microglossia |
OMIM:616540 |
Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi... |
ORPHA:740 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Talipes equinovarus, Upper limb amyotrophy |
ORPHA:496689 |
Joubert Syndrome 18 |
|
Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Cleft palate, Lobulated tongue, ... |
OMIM:614815 |
Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
Vitamin K Antagonist Embryofetopathy |
|
Anteverted nares, Depressed nasal bridge, Hearing impairment, Short neck, Choanal atresia, Myelom... |
ORPHA:1914 |
Noonan Syndrome 7 |
|
Depressed nasal bridge, Joint hypermobility, Short neck, Pectus excavatum, Cubitus valgus, Pectus... |
OMIM:613706 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Abnormality of the... |
ORPHA:2994 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Dental crowding, Short neck, Knee flexion contracture, High palate, Spina ... |
OMIM:193700 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Abnormal metatarsal morphology, Short neck, Rhizo-meso-acromelic limb shortening, Enlarged thorax... |
ORPHA:163654 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Micro... |
ORPHA:2633 |
Frontonasal Dysplasia 1 |
|
Hypoplasia of the maxilla, Widely-spaced maxillary central incisors, Pectoral muscle hypoplasia/a... |
OMIM:136760 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Hypoplasia of the maxill... |
OMIM:619142 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the dentition, Polydactyly, Brachydactyly |
OMIM:615982 |
Loeys-Dietz Syndrome 4 |
|
Joint laxity, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Hi... |
OMIM:614816 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathia, Preaxial hand polyd... |
OMIM:610536 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Single trans... |
ORPHA:536471 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Pectus carinatum, Downturn... |
ORPHA:1507 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Recurrent skin infections, Single transverse palmar crease, Broad nasal ti... |
ORPHA:391372 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Hearing impairment, Tapered finger, Micrognathia, Short neck, Macrotia, Wide nasal bridge, Narrow... |
OMIM:620250 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Short neck, Clinodactyly, Downturned corners of mouth, High palate, Widely... |
ORPHA:369891 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Micrognathia, Short neck, Downturned corners of mouth, Oligodontia, Short philtrum, Joint laxity,... |
ORPHA:391408 |
Trisomy 12P |
|
Micrognathia, Short neck, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Abnormal ... |
ORPHA:1699 |
Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,... |
OMIM:619636 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Conductive hearing impairment, Spina bifid... |
OMIM:150250 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o... |
OMIM:616007 |
Diaphanospondylodysostosis |
|
Absent in utero ossification of vertebral bodies, Micrognathia, Short neck, Depressed nasal ridge... |
OMIM:608022 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Sandal gap, Rhizomelia, Cervical kyphosis, Micrognat... |
OMIM:108721 |
Multiple Sulfatase Deficiency |
|
Anteverted nares, Broad hallux, Hypoplastic vertebral bodies, Broad thumb, Hearing impairment |
OMIM:272200 |
Weaver Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Sandal gap, Camptodactyly of finger, Redund... |
ORPHA:3447 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Kyphos... |
ORPHA:3121 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Micrognathia, Pectus excavatum, Gingival overgrowth, Cleft palate, Ulnar deviation of finger, Pro... |
ORPHA:2013 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Recurrent fractures, ... |
ORPHA:83 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Postaxial polydactyly, Esophageal varix, Retrognathia, Hyperkeratosis, Hip dysp... |
OMIM:614576 |
W Syndrome |
|
Hypoplasia of the ulna, Radial bowing, Broad uvula, Metatarsus adductus, Elbow dislocation, Submu... |
ORPHA:2804 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Submucous cleft hard palate, Bifid uvula, Finger joint hypermobility |
OMIM:601492 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Abnormal distal phalanx morphology of finger, Abnormality of the hand, Micrognathia, Ulnar deviat... |
ORPHA:1387 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Prominent nose, Thick nas... |
ORPHA:293725 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Depressed nasal bridge, Kypho... |
OMIM:215100 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Hypodontia |
ORPHA:1816 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... |
ORPHA:1240 |
Pycnodysostosis |
|
Obtuse angle of mandible, Abnormal clavicle morphology, Micrognathia, Hypoplasia of the maxilla, ... |
ORPHA:763 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Dental crowding, Convex nasal ridge, Micrognathia, Short neck, Generalized joint laxi... |
ORPHA:251028 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Ulnar deviation of the wrist, Micrognathia, Short nose, Unilambdoid synostosis,... |
OMIM:618577 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... |
OMIM:253000 |
Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
3C Syndrome |
|
Micrognathia, Short neck, High, narrow palate, Hemivertebrae, Orofacial cleft, Gastroesophageal r... |
ORPHA:7 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... |
ORPHA:1307 |
Dysostosis, Stanescu Type |
|
Micromelia, Short neck, Hypoplasia of the maxilla, Increased bone mineral density, Abnormal denta... |
ORPHA:1798 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Prominent nose, Short philtrum, Gastroesophageal reflux, Long toe, Exaggerated cupid's bow, Under... |
OMIM:618316 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar... |
ORPHA:2639 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Persistence of primary teeth, Micrognathia, Thick lower lip vermilion, Overjet, ... |
OMIM:618342 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Osteoarthritis, Pectus carinatum, High palate, Bilateral coxa valga, ... |
OMIM:615582 |
Facial Paresis, Hereditary Congenital, 3 |
|
Tented upper lip vermilion, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, M... |
OMIM:614744 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Tapered finger, High, narrow palate, Bulbous nose, 2-3 toe syndactyly, Wide mouth,... |
ORPHA:485405 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Single transverse palmar crease, Micromelia, Finger joint hypermobility, Joint laxity, Microretro... |
OMIM:618870 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, Kyphosis, High palate, Scoliosis, Long philtrum, Short nose |
ORPHA:2598 |
Schilbach-Rott Syndrome |
|
Micrognathia, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger cutaneous syn... |
OMIM:164220 |
Monosomy 9P |
|
Proximal placement of thumb, Micrognathia, Short neck, Anotia, High palate, Bilateral single tran... |
ORPHA:261112 |
Ear-Patella-Short Stature Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Clinodactyly of the 5th fin... |
ORPHA:2554 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... |
OMIM:184250 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Ti... |
OMIM:223800 |
Carey-Fineman-Ziter Syndrome 2 |
|
Thin upper lip vermilion, Dental crowding, Posteriorly rotated ears, Anteverted nares, Micrognath... |
OMIM:619941 |
Acrocraniofacial Dysostosis |
|
Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Triphalangeal thumb, Abnorma... |
ORPHA:949 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Deep philtrum, Wide mo... |
ORPHA:1825 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Micrognathia, Narrow mouth, Short nose, Delayed eruption of permanent teeth, Sh... |
OMIM:619356 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b... |
ORPHA:79106 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Cardiofaciocutaneous Syndrome |
|
Redundant skin, Short neck, Hyperextensible skin, High palate, Thickened helices, Low-set, poster... |
ORPHA:1340 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co... |
OMIM:180700 |
Zechi-Ceide Syndrome |
|
Mandibular prognathia, Wide nose, Sandal gap, Cleft lip, Short metatarsal, Wide nasal bridge, Cle... |
ORPHA:217017 |
Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, External e... |
ORPHA:1305 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Broad palm, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal ... |
ORPHA:93351 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Dental crowding, Long nose, Downturned corners of mouth, High palate, Clinodactyly of the 5th fin... |
OMIM:617602 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Cleft upper lip, Short neck, Depressed nasal ridge, Cleft... |
OMIM:613885 |
Ruvalcaba Syndrome |
|
Short metacarpal, Dental crowding, Micromelia, Limited elbow extension, Short metatarsal, Small h... |
OMIM:180870 |
Tetrasomy 5P |
|
Redundant neck skin, Overlapping toe, Posteriorly rotated ears, Short hallux, Micrognathia, Short... |
ORPHA:3309 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognathia, Flat ca... |
OMIM:147891 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Gast... |
OMIM:117650 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Stickler Syndrome, Type Ii |
|
Arachnodactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, Long fingers, High, narro... |
OMIM:604841 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... |
OMIM:250460 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Micrognathia, Reduced bone mineral density, Finger clinodactyly, Short pa... |
ORPHA:79474 |
Hypochondroplasia |
|
Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Depressed nasal bridge, Apl... |
OMIM:146000 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Anteriorly placed anus, Downturned corners of ... |
OMIM:239300 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar... |
ORPHA:1452 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Symphalangism affecting the ... |
ORPHA:2547 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the philtrum, Cleft upper lip, Cleft palate, Palmoplantar hyperkeratosis, Cutaneou... |
OMIM:225060 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Hearing impairment, Abnormality of ... |
ORPHA:1856 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of... |
ORPHA:710 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Anteverted nares, Micrognathia, Short n... |
OMIM:264180 |
White-Sutton Syndrome |
|
Mandibular prognathia, Micrognathia, Short neck, Downturned corners of mouth, Short philtrum, Hig... |
OMIM:616364 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Short neck, Glosso... |
OMIM:611209 |
Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Abnormality of the dentition, Limitation of joint mobility, Spina bifida occulta, Epi... |
ORPHA:177 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Micrognathia, Prominent nose, Hemivertebrae, Depressed nasal ridge, Protru... |
OMIM:156200 |
Cornelia De Lange Syndrome 5 |
|
Proximal placement of thumb, Micrognathia, Short neck, Downturned corners of mouth, High palate, ... |
OMIM:300882 |
Distal Deletion 10P |
|
Low-set, posteriorly rotated ears, Bilateral single transverse palmar creases, Joint stiffness, M... |
ORPHA:1580 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Epiphyseal stippling |
OMIM:614876 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Missing ribs, Esophageal a... |
OMIM:619859 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Hyper... |
OMIM:616295 |
Omodysplasia 2 |
|
Tented upper lip vermilion, Micrognathia, Limited elbow flexion, Gastroesophageal reflux, Clinoda... |
OMIM:164745 |
Ohdo Syndrome |
|
Joint laxity, Anteverted nares, Depressed nasal bridge, Hearing impairment, Micrognathia, Wide na... |
OMIM:249620 |
Thoracomelic Dysplasia |
|
Short neck, Hyperlordosis, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shape... |
ORPHA:1803 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Sensorineural hearing impairment, Flexion contracture, Hip dysplasia, Scolio... |
OMIM:618379 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... |
ORPHA:429 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,... |
OMIM:101200 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo... |
ORPHA:93346 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Mandibular prognathia, Barrel-shaped chest, Lumbar hyperlordosis, Rhizomelia, Poste... |
OMIM:612813 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... |
OMIM:609945 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ... |
OMIM:600920 |
Glutamine Deficiency, Congenital |
|
Anteverted nares, Depressed nasal bridge, Micromelia, Erythema, Flexion contracture, Wide nasal b... |
OMIM:610015 |
Desbuquois Dysplasia 2 |
|
Dental crowding, Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carina... |
OMIM:615777 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... |
OMIM:272460 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Congenital hip dislocation, Anteverted nares, Redundant skin, Carious teeth, Wide anterior fontan... |
OMIM:219200 |
Nance-Horan Syndrome |
|
Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor |
OMIM:302350 |
Trisomy 20P |
|
Micrognathia, Short neck, Abnormal form of the vertebral bodies, Protruding ear, Reduced bone min... |
ORPHA:261318 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Short neck, Deep philtrum, Pec... |
OMIM:115150 |
Toriello-Carey Syndrome |
|
Aganglionic megacolon, Abnormal pinna morphology, Hearing impairment, Micrognathia, Short neck, W... |
ORPHA:3338 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Anteverted nares, Depressed nasal bridge, Short metatars... |
OMIM:614613 |
Cousin Syndrome |
|
Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... |
OMIM:260660 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand... |
ORPHA:64745 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Death in infancy, Arachnodactyly, Micrognathia, Bulbous nose, Cupped ear, Wide nasal bridge, Clef... |
ORPHA:93946 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Abnormality of the dentition, Avascular necrosis of th... |
ORPHA:77258 |
Man1B1-Cdg |
|
Smooth philtrum, Thin upper lip vermilion, Eclabion, Wide nose, Short neck, Prominent nose, 2-3 t... |
ORPHA:397941 |
Distal Deletion 10Q |
|
Single transverse palmar crease, Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Clin... |
ORPHA:96148 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O... |
OMIM:608728 |
Microcephaly-Micromelia Syndrome |
|
Wide nose, Craniosynostosis, Absent thumb, Absent radius, Micromelia, Micrognathia, Humeroradial ... |
OMIM:251230 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Trichorhinophalangeal Syndrome Type 2 |
|
Redundant skin, Deep philtrum, Protruding ear, Conductive hearing impairment, Thick nasal alae, B... |
ORPHA:502 |
Mitral Valve Prolapse 1 |
|
Reversed usual vertebral column curves, Pectus excavatum, High, narrow palate, High palate, Stria... |
OMIM:157700 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contracture, 2-3 toe syndactyly,... |
OMIM:218000 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Hypoplastic coccygeal vertebrae,... |
OMIM:619512 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Short neck, ... |
OMIM:224400 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion |
OMIM:601957 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Proximal placement of thumb, Micrognathia, Prominent nose, High, narrow pa... |
ORPHA:435638 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... |
ORPHA:1540 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Depressed nasal ridge, Abnormal form of the... |
ORPHA:175 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Redundant neck skin, Tented upper lip vermilion, Single transverse palmar ... |
ORPHA:96334 |
Phocomelia, Schinzel Type |
|
Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormal tibia morphology, Protruding ... |
ORPHA:2879 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Single transverse palmar crea... |
OMIM:613443 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue,... |
ORPHA:561 |
Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Redundant neck skin, Rhizomelia, Anteverted nares, Micromelia, Short neck,... |
ORPHA:1842 |
Renpenning Syndrome |
|
Mandibular prognathia, Macrodontia, Joint stiffness, Abnormal thumb morphology, High, narrow pala... |
ORPHA:3242 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Overlapping toe, Short neck, Pectus excavatum, Cleft lip, Deep philtrum, Bulbo... |
OMIM:618571 |
Coffin-Lowry Syndrome |
|
Redundant skin, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Protruding ear,... |
ORPHA:192 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Micromelia, Short neck, Depresse... |
ORPHA:2021 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Redundant neck skin, Anterior concavity of thoracic vertebrae, Micrognathia, Protrudi... |
OMIM:249420 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
6Q25 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Camptodactyly of finger, Rocker bot... |
ORPHA:251056 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Aganglionic megacolon, A... |
ORPHA:59315 |
Sweeney-Cox Syndrome |
|
Uplifted earlobe, Micrognathia, High palate, Short philtrum, Gastroesophageal reflux, Narrow ches... |
OMIM:617746 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth |
ORPHA:3238 |
Acrofacial Dysostosis, Cincinnati Type |
|
Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Macrotia, Cleft palate, Femoral bowing,... |
OMIM:616462 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Thin upper lip vermilion, Death in infancy, Micrognathia, Congenital contracture, High palate, Sc... |
OMIM:615042 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Micrognathia, Short neck, Anteriorly placed anus, Downturned corners of mouth, Short phalanx of f... |
OMIM:616894 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Enamel hypoplasia, Thin upper lip vermilion, Palmoplantar keratoderma |
OMIM:613576 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene... |
OMIM:613849 |
Autosomal Dominant Omodysplasia |
|
Short palm, Short humerus, Rhizomelia, Depressed nasal bridge, Micrognathia, Elbow dislocation, L... |
ORPHA:93328 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Bilateral single transve... |
ORPHA:1786 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide... |
OMIM:601224 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Kyphosis, Wide mouth, Everted lower lip vermilio... |
ORPHA:2429 |
Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth |
OMIM:619489 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor |
OMIM:620062 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Micromelia, Non-midline cleft lip, Cleft palate, High palate, Everted lo... |
ORPHA:1784 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Conical incisor, Enamel hypoplasia |
OMIM:614564 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Long nose, Increased intervertebral space, Thoracolumbar ky... |
ORPHA:508533 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... |
ORPHA:2141 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Micrognathia, Calcaneovalgus ... |
OMIM:615065 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... |
ORPHA:884 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Glosso... |
ORPHA:94068 |
Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed calcaneal ossification, ... |
OMIM:183900 |
Coffin-Siris Syndrome 6 |
|
Posteriorly rotated ears, Depressed nasal bridge, Kyphoscoliosis, Micrognathia, Broad nasal tip, ... |
OMIM:617808 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ... |
OMIM:303600 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Abnormal form of the vertebral b... |
ORPHA:819 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Kyphomelic Dysplasia |
|
Micromelia, Micrognathia, Lateral clavicle hook, Tibial bowing, Femoral bowing, Short metacarpal,... |
OMIM:211350 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Areflexia of upper limbs, Tongue atrophy, Talipes equinovarus |
OMIM:616155 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Kniest Dysplasia |
|
Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Conductive hearing impairm... |
OMIM:156550 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of... |
ORPHA:2839 |
Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly, Conical tooth, Carious teeth, Bilateral cleft lip and palate, Anal atresia |
ORPHA:1997 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Micrognathia, Short neck, Pectus carinatum, Shoulder dislocation, Hyperextensible ski... |
OMIM:245600 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft p... |
OMIM:615716 |
Zimmermann-Laband Syndrome |
|
Micrognathia, Short neck, Large fleshy ears, Overtubulated long bones, High palate, Bifid uvula, ... |
ORPHA:3473 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Absent thumb, Absent radius, Esophageal atresia, Micrognathia, Short neck, Tr... |
OMIM:614083 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Osteolysis in... |
ORPHA:88630 |
Lowry-Maclean Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, ... |
ORPHA:2409 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... |
ORPHA:93296 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, High palate, Prominent finger... |
OMIM:300558 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of the ulna, Hamartoma of ... |
OMIM:613091 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... |
ORPHA:93357 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Temporomandibular joint ankylosis, Lateral humeral ... |
OMIM:164900 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Median cleft lip, Absent thumb, Aplasia/Hypoplasia of the dist... |
ORPHA:1234 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... |
ORPHA:1263 |
Adenylosuccinate Lyase Deficiency |
|
Thin upper lip vermilion, Anteverted nares, Low-set ears, Long philtrum, Short nose, Smooth philtrum |
ORPHA:46 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Pectus carinatu... |
OMIM:212720 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Broad nasal tip, Malar flattening, Open mouth, Retrognathia, Short nose |
OMIM:613670 |
Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Ve... |
ORPHA:87 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Bifid uvula, Absent thumb |
OMIM:619239 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre... |
OMIM:607326 |
Zechi-Ceide Syndrome |
|
Wide nose, Sandal gap, Cleft upper lip, Underdeveloped nasal alae, Short metatarsal, Wide nasal b... |
OMIM:612916 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
Hydrolethalus |
|
Micromelia, Micrognathia, Postaxial hand polydactyly, Submucous cleft hard palate, Gingival cleft... |
ORPHA:2189 |
Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depress... |
ORPHA:93258 |
Isolated Osteopoikilosis |
|
Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... |
ORPHA:166119 |
Hypomelanosis Of Ito |
|
Syndactyly, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly, Radial deviati... |
OMIM:300337 |
Meier-Gorlin Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Flat glenoid fossa, Flexion contr... |
OMIM:224690 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... |
OMIM:253010 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... |
OMIM:257850 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Postaxial polydactyly, Micromeli... |
OMIM:617866 |
Restrictive Dermopathy 1 |
|
Micrognathia, Flexion contracture, Overtubulated long bones, Scaling skin, Neonatal death, Depres... |
OMIM:275210 |
Cree Mental Retardation Syndrome |
|
Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Cleft soft palate, Micrognathia, Cutaneous fi... |
OMIM:606851 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W... |
OMIM:618067 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Short neck, Kyphosis, Short thorax, Reduced bone mineral densi... |
ORPHA:2983 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Bowing of the long bones, Posteriorly rotated ears, Thoracic hypoplasia,... |
OMIM:224410 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Posteriorly rotated ears, Thick nasal alae, Micrognathia, Retrognathia, Supernumerary ribs, Low-s... |
ORPHA:163961 |
Say Syndrome |
|
Ulnar deviation of the 3rd finger, Micrognathia, Tapered finger, Cleft palate, Short distal phala... |
OMIM:181180 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... |
ORPHA:1106 |
Autosomal Dominant Robinow Syndrome |
|
Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormality of the gingiva, Hemiverteb... |
ORPHA:3107 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Cleft lip, Cleft palate, Cutaneous synd... |
ORPHA:2890 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Osteopenia, Bowing of the long bones, Microretrognathia, Rhizomelia, Recurrent... |
OMIM:616229 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... |
OMIM:249700 |
16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Toe syndactyly, Abnormal pinna morphology, Camptodactyly of finger, Proximal p... |
ORPHA:261211 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Single transverse palmar crease, Supernumerary tooth, Submucous cleft hard palate, Thick lower li... |
OMIM:617412 |
Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth |
OMIM:112350 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Smith-Mccort Dysplasia 2 |
|
Mandibular prognathia, Short neck, Short metatarsal, Pectus carinatum, Short phalanx of finger, B... |
OMIM:615222 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Joint laxity, Limited elbow extension and supination, Thin upper lip vermilion, Intestinal malrot... |
ORPHA:401935 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Posteriorly rotated ears, Depressed nasal br... |
OMIM:619833 |
Vertebral Hypoplasia With Lumbar Kyphosis |
|
Vertebral hypoplasia, Lumbar kyphosis |
OMIM:192900 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Wide mouth, High palate, Long philtrum |
OMIM:618825 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Pectus excavatum, Long fingers,... |
OMIM:614753 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ... |
ORPHA:1071 |
Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Micrognathia, Overfolded helix, High palate, Abnormal helix morphology, L... |
ORPHA:1913 |
Acral Self-Healing Collodion Baby |
|
Palmoplantar scaling skin, Erythema, Lack of skin elasticity |
ORPHA:281127 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Joint laxity, Arachnodactyly, Dental crowding, Narrow mouth, Protruding ear, Long philtrum, Bilat... |
OMIM:615539 |
Nablus Mask-Like Facial Syndrome |
|
Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Clinodactyly, High palate... |
OMIM:608156 |
Autosomal Recessive Stickler Syndrome |
|
Epiphyseal dysplasia, Micrognathia, Sensorineural hearing impairment, Cleft palate, Genu valgum, ... |
ORPHA:250984 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Un... |
OMIM:615866 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Deep philtrum, High palate, Clinodactyly of the 5th finger, Syndactyly, Vertebral fusion, Antever... |
OMIM:227330 |
Cranioectodermal Dysplasia 4 |
|
Smooth philtrum, Anteverted nares, Sagittal craniosynostosis, Pectus excavatum, Cutis laxa, Protr... |
OMIM:614378 |
Thanatophoric Dysplasia |
|
Depressed nasal bridge, Redundant skin, Micromelia, Joint stiffness, Hearing impairment, Abnormal... |
ORPHA:2655 |
Seckel Syndrome 5 |
|
11 pairs of ribs, Selective tooth agenesis, Prominent nasal bridge, Micrognathia, Cleft palate, O... |
OMIM:613823 |
Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing... |
OMIM:613848 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Long nose, Short n... |
ORPHA:2636 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:617056 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Redundant skin, High, narrow palate, Abnormal finger morphology, Symphalan... |
ORPHA:2658 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Overlapping toe, Anteverted nares, Micrognathia, Carious teeth, Underdeveloped nasal alae, Macrot... |
OMIM:613026 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
Ledderhose Disease |
|
Lack of skin elasticity |
ORPHA:199251 |
Congenital Myopathy 22B, Severe Fetal |
|
Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Flexio... |
OMIM:620369 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate |
ORPHA:261272 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Asymmetry ... |
OMIM:619124 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Syndactyly, Enamel hypoplasia, Pyloric stenosis |
OMIM:226700 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Tented upper lip vermilion, Overlapping toe, Anteverted nares, Flexion contr... |
OMIM:619383 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Hyperextensible skin, Joint contracture, Joint laxity, Increased susceptibility to fr... |
OMIM:615349 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty... |
ORPHA:97360 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Trismus, Submucous cleft hard palate, Short distal phalanx of ... |
OMIM:609166 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis... |
OMIM:194350 |
Gaucher Disease, Perinatal Lethal |
|
Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Thoracic hypoplasia, Micro... |
OMIM:608013 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Abnormal oral mucosa morphology, Acantholysis, Pruritus, Pustule, Erythe... |
ORPHA:79481 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Elbow dislocation,... |
ORPHA:2249 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Odontoid Hypoplasia |
|
Hypoplasia of the odontoid process, Atlantoaxial instability, Cervical instability, Dystopic os o... |
OMIM:613628 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ... |
OMIM:277170 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog... |
ORPHA:1836 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Eosinophilia, Acantholysis, Oral mucosal blisters, Pruritu... |
ORPHA:555905 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Pro... |
ORPHA:235 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia... |
OMIM:212780 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Dental crowding, Narrow nasal ridge, Micrognathia, Narrow mouth, Flexio... |
OMIM:608612 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... |
OMIM:271640 |
Temple Syndrome |
|
Wide nose, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Micrognathia, Flex... |
OMIM:616222 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Anteverted nares, Micrognathia, Pectus excavatum, Submucous cleft hard palate, ... |
OMIM:619122 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Desmosterolosis |
|
Low-set, posteriorly rotated ears, Increased bone mineral density, Depressed nasal bridge, Intest... |
ORPHA:35107 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... |
ORPHA:93323 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Anteriorly placed anus, Neonatal death, Distal shortening of limbs, Syndactyly, Me... |
OMIM:146510 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Tracheobroncho... |
OMIM:613458 |
Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... |
ORPHA:1520 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Halberd-shaped pelv... |
OMIM:184252 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis, Bowing of the legs, Pectus excavatum, Limb undergrowth, Limited elbow exten... |
ORPHA:156728 |
Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Metacarpophalangeal... |
ORPHA:3250 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Hearing impairment, Hypoplasia of the maxilla, Cleft palate, Low-set ears, Clinodactyl... |
OMIM:614261 |
Auriculocondylar Syndrome 3 |
|
Glossoptosis, Retrognathia, Bifid uvula, Micrognathia |
OMIM:615706 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate, Triphalangeal thumb, Brachydactyly |
OMIM:604757 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, Promine... |
ORPHA:364577 |
Wiedemann-Steiner Syndrome |
|
Micrognathia, High palate, Clinodactyly of the 5th finger, Short phalanx of finger, Long hallux, ... |
OMIM:605130 |
Bohring-Opitz Syndrome |
|
Micrognathia, Flexion contracture, Gastroesophageal reflux, Dislocated radial head, Syndactyly, A... |
OMIM:605039 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... |
ORPHA:570 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla... |
ORPHA:485 |
Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Short middle phalanx of the 2nd finger, High, narrow palate, Absent frontal sinuses... |
OMIM:119600 |
Blepharocheilodontic Syndrome 2 |
|
Tooth agenesis, Cleft lip, Conical tooth, Cutaneous syndactyly |
OMIM:617681 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Short neck, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, N... |
OMIM:269860 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... |
OMIM:606895 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow ches... |
OMIM:616300 |
20Q11.2 Microduplication Syndrome |
|
Tented upper lip vermilion, Pectus carinatum, Short palm, Clinodactyly of the 5th finger, Abnorma... |
ORPHA:363659 |
Pycnodysostosis |
|
Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna... |
OMIM:265800 |
Bainbridge-Ropers Syndrome |
|
Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge... |
OMIM:615485 |
Trisomy 8Q |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Joint stiffness, Micrognathia, Short ... |
ORPHA:1752 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Micrognathia, Deep philtrum, Downturned corners of mouth, Bifid uvula, Anteverted nares, Depresse... |
ORPHA:404440 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Clinodactyly of the 5th finger, Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate |
OMIM:620183 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Posteriorly rotated ears, Down-sloping shoulders, Anteverted nares, Micrognath... |
ORPHA:1974 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Conductive hearing im... |
OMIM:164200 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... |
OMIM:271650 |
Kindler Epidermolysis Bullosa |
|
Flexion contracture, Gingivitis, Inflammation of the large intestine, Colitis, Periodontitis, Sho... |
ORPHA:2908 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Patellar hypoplasia, Protruding ear, High palate, Short ... |
ORPHA:3041 |
Poikiloderma With Neutropenia |
|
Joint laxity, Plantar hyperkeratosis, Skin rash, Depressed nasal bridge, Joint stiffness, Carious... |
OMIM:604173 |
Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:2238 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Stiff Skin Syndrome |
|
Sensorineural hearing impairment, Limitation of joint mobility, Lack of skin elasticity |
ORPHA:2833 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:612463 |
Hypoglossia-Hypodactylia |
|
Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia, Retrognathia |
OMIM:103300 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Posteriorly rotated ears, Anteverted nares, Micrognathia, Depressed nasal bridge... |
OMIM:617822 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Posteriorly rotated ears, Anteverted nares, Hyperlordosis, Pierre-R... |
OMIM:619980 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Coxa valga, Genu valgum, Narrow mouth, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Pectus excavatum of inferior sternum, Posteriorly rotated ears, Rocker ... |
OMIM:601353 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Split hand, Cleft palate... |
OMIM:246560 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Postaxial hand polydactyly, Long philtrum, Short nose, Abnormal palate morphology |
ORPHA:1389 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... |
ORPHA:2753 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Osteopenia, Smooth philtrum, Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal ... |
OMIM:618590 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Eczema, Thoracic hypoplasia, Death in adolescence, Short long bone, Sti... |
OMIM:619751 |
Seckel Syndrome 1 |
|
Dental crowding, Abnormal finger flexion crease, Selective tooth agenesis, Micrognathia, Prominen... |
OMIM:210600 |
Birk-Barel Syndrome |
|
Microretrognathia, Tented upper lip vermilion, Single transverse palmar crease, High palate, Shor... |
OMIM:612292 |
Kbg Syndrome |
|
Vertebral fusion, Thin upper lip vermilion, Macrodontia, Anteverted nares, Prominent nasal bridge... |
ORPHA:2332 |
Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Wide nose, Redundant skin, Underdeveloped nasal alae, External ear malformatio... |
ORPHA:1252 |
Macs Syndrome |
|
Irregular dentition, Redundant skin, Single transverse palmar crease, Micrognathia, Hyperextensib... |
OMIM:613075 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact... |
OMIM:174300 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Posteriorly rotated ears, Micrognathia, Short neck, Underdeveloped n... |
OMIM:263210 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro... |
ORPHA:93260 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Pyloric stenosis, Small hand, ... |
ORPHA:96184 |
Down Syndrome |
|
Short neck, Depressed nasal ridge, Downturned corners of mouth, Conductive hearing impairment, Cl... |
ORPHA:870 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Macroglossia |
OMIM:614450 |
Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Short neck, Prominent nose, High, narrow palate, Deep philtrum, Downturned... |
OMIM:619950 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Micrognathia, Broad nasal tip, 2-3 toe syndactyly, Cleft palate, Small thenar em... |
OMIM:239800 |
Au-Kline Syndrome |
|
Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Gastroesoph... |
OMIM:616580 |
Nager Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Joint stiffness, Micrognathia... |
ORPHA:245 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Anteverted nares, Cleft upper lip, Short neck, Duplication of phalanx o... |
OMIM:243310 |
Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Micromelia |
ORPHA:85175 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Choanal atresia, Prominent nasal bridge, Cleft upper lip, Micrognathia, Un... |
OMIM:608572 |
Distal Deletion 9P |
|
Low-set, posteriorly rotated ears, Abnormality of the dentition, Short neck, High, narrow palate,... |
ORPHA:1642 |
Antisynthetase Syndrome |
|
Skin rash, Pruritus, Xerostomia, Lack of skin elasticity, Dysphagia |
ORPHA:81 |
Nicolaides-Baraitser Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Short metatarsal, P... |
OMIM:601358 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, High palate, Barrel-... |
OMIM:226980 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Mandibular prognathia, Low-set... |
ORPHA:1908 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose |
ORPHA:1355 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod... |
OMIM:608670 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz... |
OMIM:618019 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Syndactyly, Toe syndactyly, Intestinal malrotation, Clinodactyly of the 5th finger, Amelia |
OMIM:601163 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Depressed nasal bridge, Redundant skin, Micromelia, Joint ... |
ORPHA:1860 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... |
OMIM:301040 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Non-midline cle... |
ORPHA:246 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Micrognathia, Bilateral cleft lip and palate, Clinodactyly of the 5th fin... |
ORPHA:2001 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... |
ORPHA:2911 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Depressed nasal bridge, Pectus excavatum, Retrogna... |
ORPHA:1812 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Intestinal... |
OMIM:300963 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Posteriorly rotated ears, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Short ne... |
ORPHA:2083 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat... |
OMIM:618150 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Eczema, Craniosynostosis, Absent thumb, Carious teeth, Micrognathia, Prom... |
ORPHA:96097 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b... |
ORPHA:1225 |
Miller-Dieker Syndrome |
|
Sacral dimple, Anteverted nares, Abnormal upper lip morphology, Clinodactyly of the 5th finger, S... |
ORPHA:531 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Long nose, Patellar hypoplasia, Facial erythema, High palate, Microdontia, Short phal... |
ORPHA:221016 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
Mycophenolate Mofetil Embryopathy |
|
Micrognathia, Tracheoesophageal fistula, Orofacial cleft, Bifid thoracic vertebrae, Anotia, Micro... |
ORPHA:268249 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Short neck, Hem... |
OMIM:213980 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Finger syndactyly, Micrognathia, Short nose, Spina bifida occulta |
ORPHA:1514 |
Distal Monosomy 7Q36 |
|
Micrognathia, Short neck, Pectus excavatum, Non-midline cleft lip, Bulbous nose, Cleft palate, Sy... |
ORPHA:1636 |
Intellectual Disability-Strabismus Syndrome |
|
Micrognathia, Short neck, Prominent nose, High palate, Gastroesophageal reflux, Depressed nasal b... |
ORPHA:363528 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Narrow palate, Short upper lip, Thick vermilion border, Short philtrum, Ma... |
ORPHA:364028 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Kagami-Ogata Syndrome |
|
Long clavicles, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Coxa valga, Micrognathi... |
OMIM:608149 |
Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... |
OMIM:204690 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Tented upper lip vermilion,... |
OMIM:600987 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Thin upper lip vermilion, Depressed nasal bridge, Long philtrum, Short nose, Macrotia, Smooth phi... |
ORPHA:438178 |
Marshall Syndrome |
|
Anteverted nares, Depressed nasal bridge, Abnormality of the dentition, Micrognathia, Hypoplasia ... |
ORPHA:560 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal fing... |
ORPHA:2980 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Reduced bone mineral density, Downturned cor... |
ORPHA:1185 |
Leukodystrophy, Hypomyelinating, 10 |
|
Arachnodactyly, Anteverted nares, Bulbous nose, Thin vermilion border, Low-set ears, Long philtru... |
OMIM:616420 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Bicoronal synostosis, Dental crowding, Prominent nasal bridge, Joint stiffness,... |
OMIM:619184 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia... |
ORPHA:94066 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous... |
OMIM:613573 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares... |
OMIM:612394 |
Keratoderma Hereditarium Mutilans |
|
Autoamputation of digits, Sensorineural hearing impairment, Osteolysis, Honeycomb palmoplantar hy... |
ORPHA:494 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... |
ORPHA:380 |
Classic Phenylketonuria |
|
Eczema, Lack of skin elasticity |
ORPHA:79254 |
Smith-Kingsmore Syndrome |
|
Thin upper lip vermilion, Rhizomelia, Depressed nasal bridge, Thoracic hypoplasia, Short proximal... |
OMIM:616638 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Eosinophilia, Abnormal rib morphology, Abnormal long bone morphology, N... |
ORPHA:1163 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Barrel-shaped chest, Broad long bones, S... |
OMIM:200610 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Choanal atresia, Pectus excavatum, Esophageal atresia, Submucous cleft hard palate, Tr... |
OMIM:619227 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Microtia, third degree, Spina bifida, Micrognathia, Esophageal atresia, Hy... |
ORPHA:3412 |
Diabetes Insipidus, Neurohypophyseal |
|
Osteopenia, Wide nose, Short nose, Long philtrum |
OMIM:125700 |
Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Aplasia ... |
ORPHA:1358 |
Campomelic Dysplasia |
|
Micrognathia, Short neck, Tibial bowing, Femoral bowing, Narrow chest, Hypoplastic inferior ilia,... |
ORPHA:140 |
Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
19P13.13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Sandal gap, Anteverted nares, Depressed nasal bridge, Pectus excavatum,... |
ORPHA:357001 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Thin upper lip vermilion, Brachydactyly, Joint stiffness, Anosmia, Genu valgum, Hypoplasia of the... |
ORPHA:1295 |
C Syndrome |
|
Redundant skin, Micromelia, Micrognathia, Short neck, High palate, Clinodactyly of the 5th finger... |
ORPHA:1308 |
3Q29 Microdeletion Syndrome |
|
Dental crowding, Prominent nasal bridge, Tapered finger, Abnormality of the dentition, Pectus exc... |
ORPHA:65286 |
Koolen-De Vries Syndrome |
|
High, narrow palate, Protruding ear, Vertebral segmentation defect, Microdontia, Thick nasal alae... |
ORPHA:96169 |
Laron Syndrome |
|
Microdontia, Tooth agenesis, Delayed eruption of teeth, Micrognathia |
ORPHA:633 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... |
OMIM:602483 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Monosomy 18P |
|
Kyphoscoliosis, Micrognathia, Carious teeth, Short neck, Pectus excavatum, Wide nasal bridge, Cle... |
ORPHA:1598 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Single transvers... |
OMIM:309583 |
Buratti-Harel Syndrome |
|
Broad hallux, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Broad thumb... |
OMIM:619314 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Wide mouth, Short philtrum... |
ORPHA:137834 |
Achondrogenesis, Type Ib |
|
Micromelia, Hypoplastic ilia, Stillbirth, Short ribs, Absent or minimally ossified vertebral bodi... |
OMIM:600972 |
Cervical Vertebral Dysplasia |
|
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C... |
ORPHA:968 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand |
ORPHA:3152 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Short palm, Joint laxity, Lumbar h... |
OMIM:250250 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Depressed nasal ridge, Abnormal form of the vertebral bodies, Gastroesopha... |
ORPHA:354 |
Mass Syndrome |
|
Scoliosis, Arachnodactyly, Striae distensae, Pectus carinatum |
OMIM:604308 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Partial abse... |
ORPHA:476126 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Lateral clavicle hook, Shoulder dislocation, Conductive hearing ... |
OMIM:171480 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Depressed nasal bridge, Redundant skin, Micromelia, Hearing impairment, Kyphosis, ... |
ORPHA:93274 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Hamartoma of tongue, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syn... |
OMIM:217085 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Prominent nose, Underdeveloped nasal alae, Sensorineural hearing impairment, Aplasia/... |
ORPHA:2637 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Dental crowding, Cutaneous finger syndactyly, Ch... |
OMIM:219000 |
Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Micrognathia, Broad nasal tip, Wide nasal bridge, Cleft palate, Neonatal ... |
OMIM:615524 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Thick lower lip vermilion, Cleft palate, Wide mouth, Macroglossia, Thi... |
OMIM:614607 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Micrognathia, Short neck, Prominent nose, Delayed ep... |
OMIM:210710 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Gastroesophagea... |
ORPHA:95699 |
Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Short neck, Coxa vara, Pectus carinatum, High palate, Wrist flexion con... |
ORPHA:800 |
Schisis Association |
|
Micromelia, Tracheoesophageal fistula, Cleft palate, Unilateral cleft lip, Anal atresia |
ORPHA:63862 |
Fetal Hydantoin Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Depressed nasal ridge, Cleft palate... |
ORPHA:1912 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Short toe, Sensorineural hearing impairment, Cleft palate, Ulnar deviation of fin... |
ORPHA:921 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Short nose, B... |
OMIM:618618 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Short palm, Micromelia, Coxa vara |
ORPHA:168555 |
Oculomaxillofacial Dysostosis |
|
Brachydactyly, Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormali... |
ORPHA:1794 |
Baker-Gordon Syndrome |
|
Joint laxity, Thin upper lip vermilion, Gastroesophageal reflux, Scoliosis, Prominent nasal tip, ... |
OMIM:618218 |
Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Cleft palate, Hand polydactyly, Ab... |
ORPHA:2167 |
Laron Syndrome |
|
Limb undergrowth, Short long bone |
OMIM:262500 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova... |
OMIM:601356 |
Harel-Yoon Syndrome |
|
Mandibular prognathia, Micrognathia, Pectus carinatum, Hip dysplasia, Scoliosis, Short nose |
OMIM:617183 |
Larsen-Like Syndrome |
|
Joint laxity, Kyphoscoliosis, Conductive hearing impairment, Wide anterior fontanel, Dental maloc... |
OMIM:608545 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Dyskeratosis Congenita |
|
Esophageal stenosis, Recurrent fractures, Hearing impairment, Abnormality of the dentition, Cario... |
ORPHA:1775 |
Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Intestinal obstruction, Malabsorption, Macrotia, Flexion contracture, Retrognat... |
OMIM:601675 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Short neck, Flexion contracture, Hypoplastic iliac wing,... |
OMIM:263650 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... |
OMIM:166210 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Arachnodactyly, Overlapping toe, Micrognathia, Metatarsus adductus, Short thumb, High, narrow pal... |
ORPHA:436003 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Widely spaced teeth, Clinodactyly, Retrognathia |
OMIM:619092 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Mandibular prognathia, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Rhi... |
ORPHA:171866 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Depressed nasal bridge, Micromelia, Abnormality of the dentition, Short neck, Kyp... |
ORPHA:238750 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Macrodontia of perm... |
OMIM:216550 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Hypoplasia of the max... |
OMIM:231070 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upp... |
ORPHA:894 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Elbow dislocation, Hypoplasia of the maxilla, Irregular femoral epiphysis, Patellar... |
OMIM:613805 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Micrognathia, Crowded maxillary incisors, Narrow palate, Tooth agenesis, Multiple unerupted teeth... |
ORPHA:2063 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Single transverse palmar crease, Micrognathia, Flexion contracture, Pectus carinatum,... |
OMIM:130070 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Abnormality of the ... |
OMIM:615398 |
Crane-Heise Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Abnormally ossified vertebrae, Toe syndacty... |
ORPHA:1512 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius, Cleft palate, Cleft upper lip |
OMIM:179400 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Dental crowding, Single transverse palmar crease, Micrognathia, Shor... |
OMIM:305450 |
Glass Syndrome |
|
Dental crowding, Anterior tibial bowing, Conical tooth, Long nose, Micrognathia, Oligodontia, Hig... |
OMIM:612313 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Attached earlobe, Short neck, Upper limb peromelia, Hypoplasia of the maxi... |
ORPHA:1299 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border |
OMIM:620114 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Short neck, Flexion contracture, Downturned corners of mouth, Narrow chest, Microretrognathia, Ra... |
OMIM:301041 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna... |
OMIM:165590 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Polydacty... |
ORPHA:65759 |
Hemifacial Microsomia With Radial Defects |
|
Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Microtia, Atresia of... |
OMIM:141400 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Hyperlordosis, Myelomeningocele, Abs... |
ORPHA:63259 |
Al-Raqad Syndrome |
|
Joint laxity, Thin upper lip vermilion, Sandal gap, Low-set ears, Narrow mouth, Short nose, Brach... |
OMIM:616459 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Hyperextensibility of the finger joints, Tented upper lip verm... |
ORPHA:521426 |
Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Joint stiffness, M... |
ORPHA:1915 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hallux valgus, Osteopenia, Thoracic scoliosis, Redundant skin, Micrognathia, Short neck, Osteoart... |
OMIM:618000 |
Braddock-Carey Syndrome 2 |
|
Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory c... |
OMIM:619981 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce... |
OMIM:601349 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Dental crowding, Macroglossia, High palate, Thick vermilion border, Lo... |
OMIM:616354 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Posteriorly rotated ears, Rocker bottom foot, Postaxial polydactyly, ... |
OMIM:617527 |
48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Carious teeth... |
ORPHA:10 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip |
OMIM:616788 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Posteriorly rotated ears, Depre... |
OMIM:618430 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Trisomy 10P |
|
Micrognathia, Hemivertebrae, Orofacial cleft, High palate, Gastroesophageal reflux, Abnormal hip ... |
ORPHA:171929 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... |
ORPHA:958 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... |
ORPHA:2491 |
Rhiny |
|
Short nose, Thin vermilion border, Anteverted nares |
OMIM:180360 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Abnormalit... |
ORPHA:2378 |
Endocrine-Cerebroosteodysplasia |
|
Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, N... |
OMIM:612651 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Epiphyseal stippling, Abnormality of the vertebral column, Short... |
OMIM:302950 |
Coffin-Siris Syndrome 3 |
|
Cleft palate, Wide mouth, Macroglossia, Delayed eruption of permanent teeth, Thick vermilion bord... |
OMIM:614608 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft pa... |
OMIM:258865 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
11 pairs of ribs, Hyperextensibility of the finger joints, Micrognathia, Cleft palate, Glossoptosis |
OMIM:618356 |
Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Gingival over... |
ORPHA:420561 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Striae distensae |
OMIM:178995 |
Striae Distensae, Familial |
|
Striae distensae |
OMIM:185200 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced teeth |
OMIM:619797 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Abnormal pinna morphology, Rocker bottom foot, Micrognathia, Calcaneo... |
ORPHA:3078 |
Marden-Walker Syndrome |
|
Micrognathia, Short neck, High, narrow palate, Congenital contracture, Zollinger-Ellison syndrome... |
OMIM:248700 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the fibu... |
ORPHA:2256 |
19P13.3 Microduplication Syndrome |
|
Posteriorly rotated ears, Kyphoscoliosis, Micrognathia, Prominent nose, Long fingers, Underdevelo... |
ORPHA:447980 |
Fryns Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, Proximal placement of thumb, Short n... |
OMIM:229850 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Femoral retroversion, Micromelia, Orofacial cleft, Macroglossia |
ORPHA:79107 |
Blepharocheilodontic Syndrome 1 |
|
Cleft upper lip, Conical tooth, Cutaneous syndactyly, Hypodontia, Clinodactyly, Anal atresia |
OMIM:119580 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Aganglionic megacolon, Posteriorly rotated ears, Prominent nasal bridge, Tapered finger, Bulbous ... |
OMIM:613870 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive... |
ORPHA:794 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Redundant skin, Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic ... |
OMIM:250220 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Preeclampsia |
|
Elevated circulating creatinine concentration |
ORPHA:275555 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Natal tooth, Scarring alopecia of scalp, Hypoplastic sweat glands, Clef... |
OMIM:617337 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Narrow mouth... |
ORPHA:1133 |
Kinsship Syndrome |
|
Osteopenia, Mandibular prognathia, Single transverse palmar crease, Micrognathia, Short neck, Dow... |
OMIM:619297 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Micrognathia, ... |
OMIM:614080 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Prominent nasal bridge, Proximal placement of thumb, Tapered finger, Microg... |
ORPHA:251071 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Metaphyseal widening,... |
OMIM:182212 |
Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing... |
ORPHA:3210 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Depressed nasal bridge, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Hypop... |
OMIM:617895 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Polydactyly, Low-set ears, Conductive hearing impairment, Short nose, Hyp... |
OMIM:616910 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Irregular dentition, Narrow mouth, Intestinal lymphangiectasia, Camptodactyly |
OMIM:616006 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Tented upper lip vermilion, Rocker bottom foot, Proximal placement of thumb, H... |
OMIM:619762 |
Menke-Hennekam Syndrome 1 |
|
Short ear, Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, Protruding ea... |
OMIM:618332 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endpla... |
OMIM:143095 |
Stickler Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge, Abnormal form of ... |
ORPHA:828 |
Systemic Sclerosis |
|
Flexion contracture, Intestinal bleeding, Gastroesophageal reflux, Acral ulceration, Abnormal sma... |
ORPHA:90291 |
Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Dental crowding, Anteverted nares, Sagittal craniosynostos... |
OMIM:145420 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
Xylt1-Cdg |
|
Joint laxity, Acne, Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Thick vermilion... |
ORPHA:370930 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Long clavicles, Redundant skin, Seborrheic dermatitis, Pectus excavatum, Limitation o... |
OMIM:259100 |
Cherubism |
|
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... |
OMIM:118400 |
Toluene Embryopathy |
|
Micrognathia, Tapered finger, Protruding ear, Thin vermilion border, Hypoplasia of the zygomatic ... |
ORPHA:1920 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... |
ORPHA:50814 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh... |
OMIM:300106 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Sacral dimple, Posteriorly rotated ears, Ant... |
OMIM:247200 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Sandal gap, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge... |
OMIM:616835 |
Weaver Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus d... |
OMIM:277590 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Open mouth, 3-4 finger syndactyly, 2-3 toe syndactyly |
OMIM:600906 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Warty Dyskeratoma |
|
Abnormality of the alveolar ridges, Acantholysis, Oral mucosa nodule, Abnormal hard palate morpho... |
ORPHA:69745 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A... |
OMIM:602196 |
Chime Syndrome |
|
Depressed nasal ridge, Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Aplas... |
ORPHA:3474 |
Fibromuscular Dysplasia, Multifocal |
|
Dental crowding, Joint hypermobility, Soft skin, Hiatus hernia, Micrognathia, Narrow nose, Pectus... |
OMIM:619329 |
Trigonocephaly 1 |
|
Craniosynostosis, High, narrow palate, Wide nasal bridge, Lumbar hemivertebrae, Long philtrum, Sh... |
OMIM:190440 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Talipes equinovarus |
OMIM:614209 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Short neck, Deep philtrum, Knee flexion contracture, Microdontia, Prominent cru... |
OMIM:619194 |
Trisomy 18 |
|
Pointed helix, Bilateral single transverse palmar creases, Microretrognathia, Low-set, posteriorl... |
ORPHA:3380 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Tapered finger, Sensorineural hearing impairment, Flexion contracture, Hyper... |
ORPHA:544503 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ... |
ORPHA:438216 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Redundant neck skin, Congenital hip dislocation, Redundant skin, Anteverted nares, Broad nasal ti... |
ORPHA:357074 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
6P22 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Abnormal palate morphology |
ORPHA:251046 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig... |
OMIM:269300 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Micrognathia, Short neck, Short metatarsal, Widely spaced teeth, High palate, Narrow ... |
OMIM:266920 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Camptodactyly,... |
OMIM:608257 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Joint laxity, Striae distensae, Osteoarthritis, Hyperextensible skin, Soft skin, Joint hypermobility |
OMIM:130020 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Microdontia, Bifid uvula,... |
OMIM:129400 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Wide nose, Protruding tongue, Micrognathia, Short neck, Sensorineural hearing i... |
OMIM:608779 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Anteverted nares, Depressed nasal bridge, Recurrent upper respiratory tract infections, High pala... |
OMIM:614069 |
Recombinant 8 Syndrome |
|
Redundant skin, Micrognathia, Downturned corners of mouth, Abnormal sternum morphology, Clinodact... |
ORPHA:96167 |
Arterial Tortuosity Syndrome |
|
Redundant skin, Coxa vara, Hyperextensible skin, Gastroesophageal reflux, Clinodactyly of the 5th... |
ORPHA:3342 |
Tylosis With Esophageal Cancer |
|
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Follicular hyperkeratos... |
OMIM:148500 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Eosinophilia, Acantholysis, Pruritus, Pustule, Chei... |
ORPHA:293173 |
Progeroid Syndrome, Petty Type |
|
Mandibular prognathia, Low-set, posteriorly rotated ears, Redundant skin, Wide anterior fontanel,... |
ORPHA:2963 |
Geroderma Osteodysplastica |
|
Mandibular prognathia, Beaking of vertebral bodies, Recurrent fractures, Redundant skin, Hip disl... |
ORPHA:2078 |
Tetrasomy 18P |
|
Low-set, posteriorly rotated ears, Large hands, Thin vermilion border, Scoliosis, Narrow mouth, S... |
ORPHA:3307 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Osteopenia, High-frequency sensorineural hearing impairment, Mixed hearing impairment, Cleft soft... |
OMIM:614557 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Dental crowding, 2-3 toe syndactyly, Narrow palate, Hyperplasia... |
ORPHA:313892 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Abno... |
ORPHA:2588 |
Desmosterolosis |
|
Hypoplastic nasal bridge, Rhizomelia, Posteriorly rotated ears, Anteverted nares, Micrognathia, G... |
OMIM:602398 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Deep philtrum... |
ORPHA:314655 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Mi... |
OMIM:613717 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Abnormal cortical bone morphology, Increased bone mineral density, Abnormal lim... |
ORPHA:2204 |
Distal Deletion 12Q |
|
Single transverse palmar crease, Micrognathia, Short neck, High, narrow palate, Aplasia/Hypoplasi... |
ORPHA:96149 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee... |
OMIM:151050 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Convex nasa... |
ORPHA:666 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Gas... |
OMIM:300373 |
Char Syndrome |
|
Persistence of primary teeth, No permanent dentition, Thick vermilion border, Everted lower lip v... |
ORPHA:46627 |
Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Redundant skin, Pyloric stenosis, Wide anterior fontanel, Hip dislocation, Lack of ... |
ORPHA:90349 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Camptodactyly of finger, Anteverted nares, Cle... |
ORPHA:261236 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft palate, Abno... |
ORPHA:2345 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Redundant neck skin, Hearing impai... |
ORPHA:93333 |
Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Kyphosis, Bulbous nose... |
ORPHA:261144 |
Seckel Syndrome 2 |
|
Clinodactyly of the 5th finger, Microdontia, Microglossia, Micrognathia |
OMIM:606744 |
Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, High palate, Clinodact... |
OMIM:244450 |
Gomez-Lopez-Hernandez Syndrome |
|
Posteriorly rotated ears, Anteverted nares, Craniosynostosis, Wide anterior fontanel, Thin vermil... |
OMIM:601853 |
Mosaic Trisomy 8 |
|
Micrognathia, Short neck, Protruding ear, Vertebral segmentation defect, High palate, Narrow ches... |
ORPHA:96061 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Oral mucosal blisters, Esophageal stricture, Flexion contract... |
OMIM:226600 |
Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Myelomeningocele, Short thorax, Cleft palate, Narrow pelvis bone, Enlar... |
ORPHA:66637 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Conical tooth, C... |
OMIM:263750 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... |
ORPHA:137888 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... |
OMIM:615508 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Esophageal stricture, Erythema, Palmoplantar hyperkeratosis, Dystrophic fingernails, Dystrophic t... |
ORPHA:158673 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micrognathia, Narrow palate, Abnormal hip bone morpho... |
ORPHA:1323 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Short neck... |
ORPHA:264450 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Micrognathia, Central Y-shaped metacarpal... |
ORPHA:2754 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Osteopenia, Mandibular prognathia, Prominent nose, Short metatarsal, Short metacarpal, Rhizomelia... |
OMIM:614813 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Joint laxity, Exaggerated cupid's bow, Depressed nasal bridge, Single transverse palmar crease, C... |
OMIM:620098 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Tapered finger, Thick low... |
OMIM:619854 |
Dpm1-Cdg |
|
Tented upper lip vermilion, Sandal gap, Depressed nasal bridge, Micrognathia, High, narrow palate... |
ORPHA:79322 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Depressed nasal bridge, Preaxial hand polydactyly, Foot polydactyly, Lympho... |
ORPHA:210548 |
Loeys-Dietz Syndrome 2 |
|
Micrognathia, Pectus carinatum, Abnormal sternum morphology, Bifid uvula, Joint laxity, Syndactyl... |
OMIM:610168 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Tented upper lip vermilion, Broad hallux, Aganglionic megacolon, Broad nasal tip, ... |
OMIM:614749 |
4H Leukodystrophy |
|
Delayed eruption of teeth, Hypodontia, Abnormality of the dentition |
ORPHA:289494 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Joint hypermobility, Uplifted... |
OMIM:300143 |
Prader-Willi Syndrome Due To Translocation |
|
Micrognathia, Short neck, Prominent nose, Downturned corners of mouth, High palate, Clinodactyly ... |
ORPHA:177907 |
Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals |
OMIM:618724 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Sacral dimple, Depressed nasal bridge, Thickened helices, Prominent nasal bridge, Bulbous nose, C... |
OMIM:618828 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Tented upper lip vermilion, Broad hallux, Anteverted nares, Depressed nasal bridge, Single transv... |
OMIM:614105 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Stiff neck, Micrognathia, Short neck, Narrow palate, Femoral bowing, Macroglo... |
OMIM:617022 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Posteriorly rotated ears, Anteverted nares, Craniosynostosis, Postaxial polydactyl... |
OMIM:605627 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
High palate, Persistence of primary teeth |
OMIM:147060 |
Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate, Spina bifida, Micrognathia, Limitation of joint mobility, Os... |
ORPHA:99742 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Esophageal stricture, Gastrointestinal inflammation, Palmop... |
ORPHA:79409 |
Hypophosphatasia, Infantile |
|
Death in infancy, Craniosynostosis, Bowing of the legs, Micromelia, Abnormality of the dentition,... |
OMIM:241500 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum |
OMIM:618732 |
Codas Syndrome |
|
Congenital hip dislocation, Proximal placement of thumb, Generalized joint laxity, Gastroesophage... |
OMIM:600373 |
Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Broad hallux, Hand polydactyly, High palate, Broad thumb |
OMIM:239710 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Short femur, Denta... |
OMIM:300990 |
Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... |
OMIM:163400 |
Prolidase Deficiency |
|
Depressed nasal bridge, Eczema, Micrognathia, Crusting erythematous dermatitis, Skin ulcer, Conca... |
OMIM:170100 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormality of the philtrum, Arachnodactyly, Aplasia/Hypoplasia of the tongue, Missing ribs, Long... |
ORPHA:2759 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Bilateral conductiv... |
OMIM:617802 |
Weiss-Kruszka Syndrome |
|
Exaggerated cupid's bow, Anteverted nares, Proximal placement of thumb, Hearing impairment, Singl... |
OMIM:618619 |
Shprintzen-Goldberg Syndrome |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal form of the ve... |
ORPHA:2462 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, High pal... |
OMIM:268400 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Craniosynostosis... |
OMIM:614732 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Facial hyperostosis, Delayed eruption of permanent teeth, Broad alveolar r... |
OMIM:218400 |
Cervical Vertebrae, Agenesis Of |
|
Cervical vertebral agenesis |
OMIM:214290 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Scapular winging, Tongue atrophy, Shoulder girdle muscle weakness |
OMIM:158900 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Wide nose, Coxa valga, Metatarsus adductus, Avascular necrosis of the cap... |
ORPHA:2557 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the... |
ORPHA:193 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Downturned corners of mouth, Conductive hearing impairment, Advanced eruption of teeth, Prominenc... |
ORPHA:2215 |
Arterial Tortuosity Syndrome |
|
Joint laxity, Soft, doughy skin, Arachnodactyly, Convex nasal ridge, Hiatus hernia, Micrognathia,... |
OMIM:208050 |
Restrictive Dermopathy |
|
Osteopenia, Multiple joint contractures, Micrognathia, Scaling skin, Decreased skull ossification... |
ORPHA:1662 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Drumstick terminal phalanges, Thin ve... |
OMIM:612938 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Long toe, Osteopenia, Arachnodactyly, Kyphoscoliosis, Palmoplantar cutis gyrata, Flexion contract... |
ORPHA:75496 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Depressed nasal bridge, Osteomalacia, Coxa valga, Avascular necrosis of the capital f... |
ORPHA:1901 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Recurrent fractures, Rocker bottom foot, Micrognathia, Prominent nose, Tibial bowi... |
ORPHA:453510 |
Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger... |
ORPHA:69085 |
Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, Broad toe, 11 pairs of ribs, Tented upper lip vermilion, Eczema, Short nec... |
ORPHA:488632 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Micromelia, Osteoarthritis, Short thorax, Platyspondyly, Abnormal epiphysis morphology |
ORPHA:93283 |
Saethre-Chotzen Syndrome |
|
Long nose, Hypoplasia of the maxilla, Partial duplication of the distal phalanx of the 3rd finger... |
OMIM:101400 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Kyphoscoliosis, Hip dislocation, Wide nasal bridge, High palate, Limb undergrowth, Jo... |
OMIM:618005 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Acantholysis, Abnormal oral cavity morphology |
ORPHA:704 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Anteverted nares, Short neck, Hyperlordosis, Missing ribs, Abnormal sacrum morphology, Short thor... |
ORPHA:1797 |
Meester-Loeys Syndrome |
|
Striae distensae, Arachnodactyly, Gingival overgrowth, Cervical spine instability, Abnormal stern... |
OMIM:300989 |
Peho Syndrome |
|
Tented upper lip vermilion, Tapered finger, Open mouth, Retrognathia, Short nose |
OMIM:260565 |
Peho Syndrome |
|
Anteverted nares, Tapered finger, External ear malformation, Flexion contracture, Limitation of j... |
ORPHA:2836 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Oligodontia, Hypodontia |
OMIM:601345 |
Radio-Renal Syndrome |
|
Depressed nasal bridge, Micromelia, Micrognathia, Short neck, High, narrow palate, Hypoplasia of ... |
ORPHA:3015 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... |
OMIM:137550 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Rhizomelia, Depressed nasal bridge, Craniosynostosis, Micrognathia, Hearing impairment, Single tr... |
OMIM:614114 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Hammertoe, Talipes equinovarus, Tongue fasciculations, Tongue atrophy |
OMIM:601596 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Generalized joint laxity, Protruding ear, Hyperextensible skin, High palate, Ecchymosis, Abnormal... |
OMIM:601776 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Warburg Micro Syndrome 3 |
|
Kyphoscoliosis, Micrognathia, Flexion contracture, Narrow palate, Downturned corners of mouth, Cl... |
OMIM:614222 |
Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Abnormal cervical curvature, Cleft upper lip, Micrognathia, Flexion contracture... |
OMIM:312150 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly o... |
OMIM:274000 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Amelia, Ankylog... |
OMIM:618021 |
Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Micrognathia, High, narrow palate, Supernumerary tooth, Small hand, Oligodonti... |
ORPHA:1787 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Short neck, Abnormality of the gingiva, Tibial bowing... |
ORPHA:798 |
Mosaic Trisomy 1 |
|
Thoracic scoliosis, Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Absent... |
ORPHA:1692 |
Retinitis Pigmentosa 89 |
|
Esophageal varix, Postaxial polydactyly |
OMIM:618955 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum |
ORPHA:3214 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Syndactyly, Short metacarpal, Single transverse palmar crease, Metatarsus addu... |
OMIM:123450 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Advanced eruption of teeth, High palate |
OMIM:262190 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Micrognathia, Cleft palate, Short 5th finger, Polydactyly, Ectrodactyly, Clinodactyly... |
ORPHA:397590 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Small earlobe, Severe periodontitis, Overlapping toe, Depressed nasal brid... |
ORPHA:99843 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Anotia, Conducti... |
OMIM:164210 |
Van Esch-O'Driscoll Syndrome |
|
Sacral dimple, Depressed nasal bridge, Esophageal atresia, Tracheoesophageal fistula, Retrognathi... |
OMIM:301030 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Rectal prolapse, Gingival overgrowth, Narrow palate, Conical incisor, ... |
OMIM:235510 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Thoracic scoliosis, Redundant skin, Equinus calcaneus, Micrognathia, Shoulder disloca... |
ORPHA:536532 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Micrognathia, Flexion contracture, Protruding ear, Oligodontia, High palate, Short philtrum, Depr... |
OMIM:309590 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Trisomy 17P |
|
Wide nose, Tapered finger, Micrognathia, Short neck, Prominent nose, Flexion contracture, Orofaci... |
ORPHA:261290 |
Maternal Phenylketonuria |
|
Anteverted nares, Bifid distal phalanx of the thumb, Micrognathia, Esophageal atresia, Wide nasal... |
ORPHA:2209 |
Ollier Disease |
|
Micromelia, Joint stiffness, Osteolysis, Skin ulcer, Platyspondyly, Abnormal metaphysis morphology |
ORPHA:296 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Metaphyseal widening, Death in childhood, Progressive alveolar ridge hy... |
OMIM:252500 |
Distal Duplication 17Q |
|
Hallux valgus, Joint laxity, Thin upper lip vermilion, Low-set, posteriorly rotated ears, Overlap... |
ORPHA:3379 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Micrognathia, 2-3 toe cutaneous syndactyly, Laryngotracheomalacia, Short philtrum, Clinodactyly o... |
OMIM:618454 |
Larsen Syndrome |
|
Finger syndactyly, Depressed nasal bridge, Craniosynostosis, Accessory carpal bones, Cleft palate... |
ORPHA:503 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... |
OMIM:228900 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Anteverted nares, Depressed nasal bridge, Malabsorption, Protruding tongue, Micrognath... |
OMIM:242860 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
Marfan Syndrome |
|
Osteopenia, Dental crowding, Limited elbow movement, Micrognathia, High, narrow palate, Pectus ca... |
ORPHA:558 |
Olmsted Syndrome 2 |
|
Parakeratosis, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperkeratosis, P... |
OMIM:619208 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Hyperextensibility of the finger joints, Soft skin, Joint hypermobility, Pectus excavatum, Osteoa... |
OMIM:130000 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex... |
ORPHA:3103 |
Cebalid Syndrome |
|
Posteriorly rotated ears, Abnormal pinna morphology, Anteverted nares, Depressed nasal bridge, De... |
OMIM:618774 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Tapered finger, Wide nasal bridge, Microtia, Low-s... |
OMIM:601088 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Short neck, Pectus excavatum, Narr... |
ORPHA:77301 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Darier-White Disease |
|
Acantholysis, Pruritus, Palmar pits, Enlargement of parotid gland, Subungual hyperkeratotic fragm... |
OMIM:124200 |
Meier-Gorlin Syndrome 3 |
|
Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Gastroesophageal reflux,... |
OMIM:613803 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa |
ORPHA:79148 |
Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
Ogden Syndrome |
|
Microretrognathia, Everted upper lip vermilion, Broad hallux, Underdeveloped nasal alae, High, na... |
ORPHA:276432 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Mandibular prognathia, Syndactyly, Abnormality of the dentition, Broad palm, Wide mouth, Thick ve... |
OMIM:618505 |
Alg9-Cdg |
|
Villous atrophy, Micrognathia, Short neck, Large fleshy ears, Narrow greater sciatic notch, Gastr... |
ORPHA:79328 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Rib segmentation abnormalities, Abnormal in... |
ORPHA:2311 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Finger syndactyly, Thin upper lip vermilion, Mandibular prognathia, Dental crowdi... |
ORPHA:435938 |
Feingold Syndrome 1 |
|
Jejunal atresia, Posteriorly rotated ears, Hearing impairment, Micrognathia, Anteverted nares, Sh... |
OMIM:164280 |
Peeling Skin Syndrome 4 |
|
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Orthokeratosis |
OMIM:607936 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, Short neck, Large fleshy ears, High palate, Gastroesophageal reflux, ... |
ORPHA:280633 |
Irida Syndrome |
|
Hyperkeratosis, Abnormal intestine morphology, Pallor |
ORPHA:209981 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth |
OMIM:272300 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Abnormality of the gastrointestinal tract, Abnormal dental morphology, Osteomalacia, ... |
ORPHA:2176 |
Campomelia, Cumming Type |
|
Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal t... |
ORPHA:1318 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Missing ribs, Esophageal atresia, Sensorineural hearing impairment, Hemivertebr... |
OMIM:206900 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease... |
ORPHA:3472 |
Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Anteverted nares, Eczema, Depressed nasal bridge, Wide... |
OMIM:600430 |
Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Long hallux, Broad columella, Abnormality of t... |
ORPHA:2308 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Palmar pits, Hemivertebrae, Abnormal sternum morphology, Vertebral fusion,... |
OMIM:109400 |
Zttk Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Protruding ear, Downturned corners... |
OMIM:617140 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... |
OMIM:617604 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Selective tooth agenesis, Cleft upper lip, Conical tooth, Hypoplasia of the maxilla, 2-3 toe synd... |
OMIM:106260 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Convex nasal ridge, Abnormal fingertip morphology, Abnormali... |
ORPHA:90154 |
Familial Benign Chronic Pemphigus |
|
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis |
ORPHA:2841 |
Diamond-Blackfan Anemia |
|
Depressed nasal bridge, Cleft soft palate, Absent thumb, Micrognathia, Short thumb, Partial dupli... |
ORPHA:124 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Recurrent skin infections, Anal fissure, Carious teeth, Esophageal stricture... |
ORPHA:89842 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Mandibular prognathia, Cleft upper lip, Pectus excavatum, Cleft palate, Palmoplantar cutis laxa, ... |
OMIM:268850 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, A... |
ORPHA:2750 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Posteriorly rotated ears, Short nose, Sandal gap, Long philtrum |
OMIM:300887 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G... |
OMIM:250420 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph... |
OMIM:154400 |
Anti-Glomerular Basement Membrane Disease |
|
Persistence of primary teeth |
ORPHA:375 |
Superficial Epidermolytic Ichthyosis |
|
Erythema, Palmoplantar keratoderma, Acantholysis |
ORPHA:455 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Micrognathia, Short neck, Vertebral segmentation de... |
ORPHA:263508 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Choanal atresia, Micrognathia, Metaphyseal... |
OMIM:156400 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Slender long bone, Decreased calvarial o... |
OMIM:618265 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Redundant neck skin, Dental crowding, Short neck, Rectal prolapse, Short metatarsal, High palate,... |
OMIM:617157 |
Isotretinoin Embryopathy-Like Syndrome |
|
Anotia, Microtia, Cleft palate, Micrognathia |
OMIM:243440 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... |
OMIM:184100 |
Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Arachnodactyly, Eczema, Kyphoscoliosis, Micrognathia, Pectus excavatum, Cleft lip,... |
OMIM:618348 |
Native American Myopathy |
|
Joint laxity, Micrognathia, Conductive hearing impairment, Cleft palate, Abnormal curvature of th... |
ORPHA:168572 |
Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Abnormal palate morphology, Short nose, Bilateral choa... |
ORPHA:1200 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Syndactyly, Anteverted ears, Clinodactyly, Short nose |
OMIM:618087 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Silver-Russell Syndrome 1 |
|
Syndactyly, Micrognathia, Short distal phalanx of the 5th finger, Downturned corners of mouth, Cl... |
OMIM:180860 |
Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Wide nose, Cleft upper lip, Short neck, Hemivertebrae, Rib fus... |
ORPHA:1394 |
Viss Syndrome |
|
Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, Pectus carinatum,... |
OMIM:619472 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Congenital hip dislocation, Short neck, High, narrow palate, Vertebral seg... |
ORPHA:373 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Sacral dimple, Aganglionic megacolon, Tapered finger, W... |
OMIM:613603 |
Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy |
OMIM:254300 |
Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Malar flattening, Gingival overgrowth, Micrognathia |
OMIM:614592 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Sandal gap, Broad hallux, Micromelia, Single transverse palmar crease, Thin vermilion... |
OMIM:614800 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, ... |
ORPHA:251014 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, Contractu... |
ORPHA:329178 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Dental crowding, Clinodactyly, Downturned corners of mouth, Short philtrum, Widely spaced teeth, ... |
OMIM:301044 |
5Q14.3 Microdeletion Syndrome |
|
Toe syndactyly, Anteverted nares, Short philtrum, Open mouth, Short nose |
ORPHA:228384 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Polydactyly, Smooth philtrum |
OMIM:602501 |
Coxoauricular Syndrome |
|
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... |
ORPHA:1508 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Cranioectodermal Dysplasia 2 |
|
Micrognathia, Short neck, Fused teeth, High palate, Widely spaced teeth, Narrow chest, Microdonti... |
OMIM:613610 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Rocker bottom foot, Micromelia, Intestinal malrotation, Spina bifida, Mi... |
ORPHA:99776 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Diastema, Hypoplasia of the maxill... |
OMIM:300534 |
Osteoglosphonic Dysplasia |
|
Tooth agenesis, Multiple unerupted teeth, Micrognathia |
ORPHA:2645 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations |
OMIM:613435 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Micrognathia, Pectus carinatum, Hip dysplasia, Scoliosis, Short nose |
ORPHA:496790 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Tibial... |
OMIM:304120 |
Barber-Say Syndrome |
|
Mandibular prognathia, Redundant skin, Micrognathia, Hypoplasia of the maxilla, High palate, Wide... |
OMIM:209885 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
2-3 finger syndactyly, Hamartoma of tongue |
ORPHA:1338 |
Catel-Manzke Syndrome |
|
Single transverse palmar crease, Micrognathia, Short neck, Pectus carinatum, Glossoptosis, High p... |
OMIM:616145 |
Arthrogryposis And Ectodermal Dysplasia |
|
Abnormal dental enamel morphology, Kyphoscoliosis, Cleft upper lip, Orofacial cleft, Dry skin, Cl... |
OMIM:601701 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
Craniolenticulosutural Dysplasia |
|
Osteopenia, High palate, Gastroesophageal reflux, Narrow chest, Bifid uvula, Joint laxity, Anteve... |
OMIM:607812 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Congenital hip dislocation, Narrow nasal ridge, Pectus excavatum, Hip dislocation, Cutis laxa, Hy... |
OMIM:219150 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Toe syndactyly, Intestinal pseudo-obstruction, Arachnodactyly, Short palm, Ret... |
ORPHA:73246 |
Hypoglossia With Situs Inversus |
|
Micrognathia, High palate, Hypodontia, Narrow mouth, Microglossia |
OMIM:612776 |
Image Syndrome |
|
Low-set ears, Metaphyseal dysplasia, Depressed nasal bridge, Micromelia |
ORPHA:85173 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Mandibular prognathia, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prom... |
OMIM:300912 |
Oliver Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Dental mal... |
ORPHA:2920 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru... |
OMIM:612921 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Bifid uvula, Joint laxity, Ar... |
ORPHA:284984 |
9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Abnormal tongue morphology, Polydactyly, Hip dysplasia |
ORPHA:531151 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... |
OMIM:225500 |
White Forelock With Malformations |
|
Clinodactyly of the 5th finger, Finger syndactyly, Deep philtrum, Abnormal palate morphology |
ORPHA:2475 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Elbow contracture, Eczema, Allergic rhinitis, Pectus excavatum, Ulnar deviation of th... |
OMIM:618162 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo... |
OMIM:187600 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Irregular dentition, Swan neck-like deformities of the fingers, Arachnodactyly, Elbow contracture... |
OMIM:615656 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Redundant neck skin, Anterior concavity of thoracic vertebrae, Single... |
OMIM:216340 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Thin upper lip vermilion, Sandal gap, High, narrow palate, Submucous cleft hard palate, Small han... |
OMIM:612863 |
1Q41Q42 Microdeletion Syndrome |
|
Submucous cleft hard palate, Thick vermilion border, Talipes equinovarus, Cleft palate |
ORPHA:250999 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the middle ear ossicles, Preaxial hand polydactyl... |
ORPHA:2549 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar... |
OMIM:618727 |
Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Abnormalit... |
ORPHA:783 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Redundant skin, Micrognathia, High, narrow palate, Coronal craniosynostosi... |
OMIM:612289 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Esophageal atresia, Tra... |
OMIM:314390 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Finger syndactyly, Tented upper lip vermilion, Overlapping toe, Exaggerate... |
ORPHA:464738 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Tapered finger, Malabsorption, Hypogeusia, Furrowed tongue, Hamartomatous p... |
ORPHA:2930 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Mi... |
ORPHA:1765 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Micrognathia, Non-midline c... |
ORPHA:1300 |
Koolen-De Vries Syndrome |
|
Anteverted ears, High palate, Widely spaced teeth, Prominent fingertip pads, Vertebral fusion, Cl... |
OMIM:610443 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
Jaberi-Elahi Syndrome |
|
Depressed nasal bridge, Joint stiffness, Kyphosis, Short nose, Protruding ear, Pectus carinatum, ... |
OMIM:617988 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Single transverse palmar crease, Protruding tongue, Submucous cleft hard palate,... |
OMIM:618106 |
Gapo Syndrome |
|
Anteverted nares, Redundant skin, Depressed nasal bridge, Micrognathia, High, narrow palate, Wide... |
OMIM:230740 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Sensorineural ... |
OMIM:614207 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Preaxial... |
ORPHA:1553 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large intestine morphology, Micrognat... |
ORPHA:109 |
Tooth Agenesis, Selective, 3 |
|
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia |
OMIM:604625 |
Wiedemann-Steiner Syndrome |
|
Thin upper lip vermilion, Hyperextensibility at elbow, Aplasia/Hypoplasia of the ribs, Rhizomelia... |
ORPHA:319182 |
Lathosterolosis |
|
Abnormal thoracic spine morphology, Toe syndactyly, Anteverted nares, Micrognathia, Postaxial han... |
ORPHA:46059 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine |
ORPHA:54057 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Redundant skin, Depressed nasal bridge, Kyphosis, Wide anterior... |
OMIM:616482 |
Loeys-Dietz Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Micrognathia, Pectus excavatum, Orofac... |
ORPHA:60030 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Downturned corners of mouth, Everted lower lip vermilion, Widely spaced t... |
OMIM:617865 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Widely spaced teeth, Gastroesophageal reflux, Short 4th toe, Ad... |
OMIM:615873 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
Congenital Disorder Of Glycosylation, Type Il |
|
Depressed nasal bridge, Short neck, Kyphosis, Hip dislocation, Wide mouth, Low-set ears, Long phi... |
OMIM:608776 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Posteriorly rotated ears, Broad proximal phalanges of the hand, Choanal atresia, Cleft upper lip,... |
OMIM:607597 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... |
OMIM:311200 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, Cutaneous finger syndac... |
OMIM:211380 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormal dental enamel morphology,... |
ORPHA:3253 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Depressed nasal... |
OMIM:253290 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Joint stiffness, Micrognathia, Kyphosis, Wid... |
ORPHA:2510 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Prominent nasal bridge, Pruritus, Short toe, Sensorineural hearing impairment, Cone-s... |
OMIM:619269 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Short neck, Hemivertebrae, Knee flexion contracture, Pectus carinatum, Cutaneo... |
OMIM:178110 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Esophageal varix, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
Teebi-Shaltout Syndrome |
|
Single transverse palmar crease, High, narrow palate, Pectus carinatum, Oligodontia, Small earlob... |
OMIM:272950 |
Hurler Syndrome |
|
Short neck, Metaphyseal widening, Flexion contracture, Microdontia, Hypoplasia of the femoral hea... |
OMIM:607014 |
Lathosterolosis |
|
Toe syndactyly, Anteverted nares, Micrognathia, Lumbosacral meningocele, Postaxial hand polydacty... |
OMIM:607330 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft pal... |
ORPHA:1790 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Beaking of vertebral bodies, Abnormal morphology of ulna, Joint stiffness,... |
ORPHA:93 |
Fetal Valproate Spectrum Disorder |
|
Narrow mouth, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Long phi... |
ORPHA:1906 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Short ribs, Hypoplasia of deltoid ... |
OMIM:173800 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, ... |
OMIM:253220 |
Developmental And Epileptic Encephalopathy 80 |
|
Tented upper lip vermilion, Tapered finger, Protruding tongue, Micrognathia, Wide mouth, High pal... |
OMIM:618580 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Micrognathia, Carious teeth, Thin vermilion border, Long philtrum |
OMIM:214150 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, A... |
OMIM:619148 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Missing ribs, Micrognathia, Cleft palate, Anal atresia |
OMIM:220210 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Tapered finger, Submucous cleft hard palate, Downturned corners of mout... |
OMIM:619680 |
Hamamy Syndrome |
|
Long toe, Syndactyly, Thin upper lip vermilion, Down-sloping shoulders, Tapered finger, Micrognat... |
OMIM:611174 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Den... |
OMIM:619503 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Death in infancy, Redundant neck skin, Micrognathia, Short neck, Postax... |
OMIM:235255 |
Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, Micrognathia, 2-3 finger syndactyly, Tracheoes... |
ORPHA:2437 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Patellar hypoplasia, Facial erythema, Microdontia, Short phalanx of finger, Genu varu... |
ORPHA:221008 |
Deeah Syndrome |
|
Prominent nasal tip, Death in infancy, Cervical hemivertebrae, Hearing impairment, Malabsorption,... |
OMIM:619004 |
Pemphigus Erythematosus |
|
Malar rash, Oral ulcer, Acantholysis |
ORPHA:79480 |
Congenital Disorder Of Glycosylation, Type 2V |
|
Thin upper lip vermilion, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Cleft palat... |
OMIM:619493 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Protruding ear, Widely spaced teeth, Gastroesophageal reflux, Cleft soft palate, Tapered finger, ... |
ORPHA:268261 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Polydactyly, Clinodactyl... |
ORPHA:313781 |
Tetraploidy |
|
Micrognathia, Radial club hand, Cleft palate, Short philtrum, Hypoplasia of the ear cartilage, Co... |
ORPHA:3305 |
Triploidy |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Intestinal malrotation, Micrognathia, Short... |
ORPHA:3376 |
Marden-Walker Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Posteriorly rotated ears, Joint stiffness, Metatarsus ad... |
ORPHA:2461 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Knee flexion contract... |
OMIM:265000 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly, Aganglionic megacolon, Cleft palate |
ORPHA:66629 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Gastrointestinal hemorrhage, Absent toe, Split h... |
ORPHA:974 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Delayed eruption of teeth, Osteomyelitis, Skin rash, Recurrent fractures, Craniosynos... |
ORPHA:2314 |
Anophthalmia Plus Syndrome |
|
Low-set, posteriorly rotated ears, Choanal atresia, Spina bifida, Abnormal nasal morphology, Non-... |
ORPHA:1104 |
Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... |
OMIM:309350 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Single transverse palmar crease, Short philtrum, Clinodactyly of the 5th f... |
ORPHA:1449 |
Fucosidosis |
|
Anterior beaking of thoracic vertebrae, Flexion contracture, Anterior beaking of lumbar vertebrae... |
OMIM:230000 |
Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Carious teeth, Deep philtrum, ... |
OMIM:190350 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Congenital hip dislocation, Micrognathia, Pectus carinatum, Shoulder dislocation, Hyp... |
ORPHA:536545 |
Mulibrey Nanism |
|
Dental crowding, Single transverse palmar crease, Absent frontal sinuses, Thickened cortex of lon... |
OMIM:253250 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Anteverted nares, Depressed nasal bridge, Sensorineural hearing impairment, Wide nasa... |
OMIM:616430 |
Ogden Syndrome |
|
Congenital hip dislocation, Redundant neck skin, Redundant skin, Micrognathia, Short neck, Deep p... |
OMIM:300855 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Joint laxity, Anteverted nares, Eczema, Prominent nasal bridge, Congenital sensorineural hearing ... |
ORPHA:500159 |
Acrokeratosis Verruciformis Of Hopf |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Parakeratosis, Acantholysis |
ORPHA:79151 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, Uplifted earlobe, High, narrow palate, Protruding ear, Short philtru... |
OMIM:613406 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Dental crowding, Anteverted nares, Depressed nasal bridge, Micrognathia, Underdeveloped nasal ala... |
OMIM:619005 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C... |
OMIM:218600 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Abnormal pinna morphology, Short neck, Broad nasal tip, Small hand, Retrognathia, Bro... |
ORPHA:488434 |
Cornelia De Lange Syndrome |
|
Proximal placement of thumb, Micromelia, Micrognathia, Short neck, Downturned corners of mouth, W... |
ORPHA:199 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal finger morphology, Gastroesophageal reflux, Phocomelia, Microgastria, Aplastic clavicle,... |
ORPHA:2538 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Pyloric stenosis, Wide anterior fontanel, S... |
ORPHA:457279 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly |
ORPHA:1114 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly |
OMIM:619091 |
Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Branchial fistula, Arachnodactyl... |
ORPHA:261330 |
Eiken Syndrome |
|
Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee... |
OMIM:600002 |
Kabuki Syndrome 2 |
|
Joint laxity, Natal tooth, Hearing impairment, Micrognathia, Broad nasal tip, Lower lip pit, Cupp... |
OMIM:300867 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Exaggerated cupid's bow, Micrognathia, Short neck, Underdeveloped n... |
OMIM:614230 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia |
OMIM:614381 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Prominent nose, Bifid uvula, Joint laxity, Depressed nasal bridge, Tapered finger, Wide nasal bri... |
OMIM:300968 |
Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... |
ORPHA:530 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Microretrognathia, Hip contracture, Overlapping toe, Rocker bottom foot, Bilateral single transve... |
ORPHA:488642 |
Pachyonychia Congenita 2 |
|
Oral leukoplakia, Natal tooth, Angular cheilitis |
OMIM:167210 |
Pontocerebellar Hypoplasia, Type 10 |
|
Thin upper lip vermilion, Kyphoscoliosis, Tapered finger, Short neck, Underdeveloped nasal alae, ... |
OMIM:615803 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Single transverse palmar crease, Proximal placement of thumb, Limited elbow movement, Micrognathi... |
OMIM:610759 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Meningocele, Prot... |
ORPHA:2031 |
Isotretinoin-Like Syndrome |
|
Anteverted nares, Micrognathia, Aplasia/Hypoplasia of the inner ear, Cleft palate, Anotia, Microt... |
ORPHA:2306 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Sacral dimple, Eczema, Prominent nasal bridge, Micrognathi... |
OMIM:223370 |
Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Arachnodactyly, Recurrent fractures, Dental crowding, Joint stiffnes... |
ORPHA:394 |
Omodysplasia 1 |
|
Micrognathia, Short neck, Limited elbow flexion, Short tibia, Increased fibular diameter, Rhizome... |
OMIM:258315 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Bilateral single transverse palmar creases, Micromelia, Short neck, Long philtr... |
ORPHA:50810 |
Marfan Syndrome |
|
Dental crowding, Equinus calcaneus, Micrognathia, Flexion contracture, Pectus carinatum, High pal... |
OMIM:154700 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal clavicle morphology, Abnormal dental morphology, Abnormal dental enamel morphology, Tars... |
ORPHA:85199 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Micromelia |
OMIM:273680 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Swollen lip, Micrognathia, Short neck, Calcaneovalgus deformity, Depressed nasal ridg... |
OMIM:256520 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Anteverted nares, Depressed nasal bridge, Craniosynostosis, Choanal atresia, Palmoplantar cutis g... |
ORPHA:1555 |
Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth |
OMIM:617105 |
Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metatarsal, Finger clinodacty... |
OMIM:617137 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy |
ORPHA:216873 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Malabsorption, Intestinal perforation, Acantholysis, Erythema, Trach... |
ORPHA:537 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, Short neck, High, narrow palate, Preaxial polydactyly, Coxa vara... |
OMIM:614976 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Lateral clavicle hook, Preaxial ha... |
OMIM:263520 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Depressed nasal bridge, Eczema, Cutis laxa, Hyperkeratosis, Low-set ears, Dysphagia, Dry skin |
OMIM:612379 |
Occipital Horn Syndrome |
|
Redundant skin, Pectus carinatum, Hyperextensible skin, High palate, Narrow chest, Broad ribs, Jo... |
OMIM:304150 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
Odontoonychodermal Dysplasia |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's... |
ORPHA:261494 |
Congenital Varicella Syndrome |
|
Micromelia |
ORPHA:291 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Skin rash, Bowing of the legs, Hypoplastic ilia... |
ORPHA:1855 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Interphalangeal joint contractu... |
OMIM:151200 |
Aymé-Gripp Syndrome |
|
Oligodontia, Clinodactyly of the 5th finger, Depressed nasal bridge, Tapered finger, Abnormal tho... |
ORPHA:1272 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Prominent nasal bridge, Limited elbow movement, Craniosynostosis, C... |
OMIM:265050 |
Trisomy 9P |
|
Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth |
ORPHA:236 |
Fryns Syndrome |
|
Tented upper lip vermilion, Micrognathia, Short neck, High palate, Gastroesophageal reflux, Narro... |
ORPHA:2059 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Lateral clavicle hook, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the ... |
OMIM:615630 |
Immunodeficiency 12 |
|
Skin rash, Esophageal stricture, Clubbing, Cheilitis, Osteoporosis, Death in adolescence, Recurre... |
OMIM:615468 |
Cranioectodermal Dysplasia 3 |
|
Joint laxity, Sandal gap, Rhizomelia, Postaxial polydactyly, Sagittal craniosynostosis, 2-4 toe s... |
OMIM:614099 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Crumpled long bones, Death in infancy, Rhizomelia, Protrusio ... |
OMIM:610682 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Carious teeth, Mandibular osteomyelitis, Persistence of primary teeth |
OMIM:259710 |
Hypertrichosis Cubiti |
|
Abnormality of the elbow, Rhizomelia, Micromelia |
ORPHA:2220 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Limited elbow movement, Limited w... |
OMIM:617809 |
Mandibuloacral Dysplasia |
|
Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, High palate, Oste... |
ORPHA:2457 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Supernumerary tooth, High palate, Persistence of primary teeth |
OMIM:619752 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Death in infancy, Short thorax, Short long bone, Vertebral segme... |
OMIM:618845 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Single transverse palmar crease, Micrognathia, Choanal stenosis, Arachnodactyly, W... |
ORPHA:83617 |
De Barsy Syndrome |
|
Osteopenia, Dermal translucency, Delayed eruption of teeth, Congenital hip dislocation, Kyphoscol... |
ORPHA:2962 |
Genitopalatocardiac Syndrome |
|
Micrognathia, Kyphosis, Postaxial hand polydactyly, Non-midline cleft lip, Wide nasal bridge, Cle... |
ORPHA:2075 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Gastrointestinal hemorrhage, Congenital hip dislocation, Arachnodactyly... |
OMIM:225400 |
Fetal Akinesia Deformation Sequence |
|
Intestinal hypoplasia, Multiple joint contractures, Posteriorly rotated ears, Camptodactyly of fi... |
ORPHA:994 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Absent thumb, Short neck, Esophageal atresia, Tracheoesophageal fistula, Bilate... |
OMIM:300514 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Down-sloping shoulders, Micrognathia, Long nose, Long fingers, 2-3 toe cutaneous syndactyly, Shor... |
OMIM:301091 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morpho... |
ORPHA:1896 |
Loeys-Dietz Syndrome 6 |
|
Arachnodactyly, Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Striae distensae... |
OMIM:619656 |
Pachyonychia Congenita |
|
Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia |
ORPHA:2309 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Pontocerebellar Hypoplasia, Type 1B |
|
Tongue atrophy, Hip dislocation, Tongue fasciculations |
OMIM:614678 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Depressed nasal bridge, Micrognathia, Wide nasal bridge, Macroglossia, Mesomelia, High palate, Ga... |
OMIM:613457 |
Frontorhiny |
|
Encephalocele, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Camptodactyly of finger, ... |
ORPHA:391474 |
Solar Urticaria |
|
Abnormal lip morphology, Abnormal tongue morphology |
ORPHA:97230 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Conical... |
ORPHA:289 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Recurrent fractures, Micromelia, Abnormal rib morphology, Join... |
ORPHA:2772 |
Becker Nevus Syndrome |
|
Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Upper limb asymmet... |
ORPHA:64755 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Joint laxity, Alveolar bone loss around teeth, Arachnodactyly, Hiatus hernia, Intestinal perforat... |
OMIM:130080 |
Donnai-Barrow Syndrome |
|
Posteriorly rotated ears, Intestinal malrotation, Depressed nasal bridge, Wide anterior fontanel,... |
ORPHA:2143 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w... |
OMIM:139210 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Gastrointestinal hemorrhage, Depressed nasal bridge, Pyloric stenosis, ... |
ORPHA:363705 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Cleft soft palate, Micrognathia, Short neck, Wide nasal bridge, Microtia, Submu... |
ORPHA:2282 |
Feingold Syndrome Type 1 |
|
Toe syndactyly, Jejunal atresia, Micrognathia, Short middle phalanx of the 2nd finger, Short thum... |
ORPHA:391641 |
Marbach-Rustad Progeroid Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Eruption failure, Hypodontia, Narrow mouth, Smoo... |
OMIM:619322 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Abnormal form of the vertebral bodies, Gas... |
ORPHA:818 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head |
OMIM:605274 |
Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... |
ORPHA:85167 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Delayed eruption of teeth, Oligodontia, Hypodontia |
ORPHA:447896 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Wide nose, Abnormal hand morphology, Small hand, Broad finger, Long philtrum, Low-set ears, Abnor... |
OMIM:300845 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Protruding ear, High palate, Gastroesophageal reflux, Simple ear, Joint laxity, Ant... |
OMIM:619325 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, 2-3 toe syndactyly, Cleft palate, Fu... |
OMIM:616449 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Thin upper lip vermilion, Eczema, Prominent nose, Protruding ear, Cutis laxa, Long philtrum, Retr... |
OMIM:619691 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi... |
ORPHA:1788 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Cleft upper lip, Split... |
ORPHA:2008 |
Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
Grange Syndrome |
|
Syndactyly, Short palm |
ORPHA:79094 |
Hydrolethalus Syndrome 2 |
|
Micrognathia, Postaxial hand polydactyly, Anencephaly, Cleft palate, Postaxial foot polydactyly, ... |
OMIM:614120 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... |
ORPHA:96263 |
Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ... |
ORPHA:392 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... |
OMIM:615633 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Gastroesophageal reflux, Short nose, M... |
OMIM:620292 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Overlapping toe, Abnormality of the dentition, Carious teeth, Long nose, Thin lower lip vermilion... |
ORPHA:363444 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Abnormal pinna morphology, Choanal atresia, Prominent nasal bridge, Short neck, Pectus excavatum,... |
ORPHA:52055 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Single transverse palmar crease, Short philtrum, Joint contracture of the 5th finger,... |
ORPHA:363611 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Tolchin-Le Caignec Syndrome |
|
Arachnodactyly, Micrognathia, Prominent nose, Sensorineural hearing impairment, Submucous cleft h... |
OMIM:618971 |
Ohdo Syndrome, Sbbys Variant |
|
Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Bulbous... |
OMIM:603736 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Depressed nasal bridge, Pectus excavatum, Hypoplasia of the zygomatic bone, Malar flattening, Sho... |
ORPHA:2835 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Short neck, Long fingers, Narrow ... |
OMIM:156610 |
Dermotrichic Syndrome |
|
Aganglionic megacolon, Depressed nasal bridge, Short nose, Macrotia, Abnormal vertebral morphology |
ORPHA:99688 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Death in infancy, Abnormality of the dentition, Malabsorption, Underde... |
ORPHA:2315 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Sacral dimple, Dental crowdin... |
ORPHA:261323 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Clubbing of fingers, Protein-losing... |
OMIM:175500 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micrognathia, Cleft palate, High palate |
OMIM:616038 |
Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Clinodactyly, Short finger |
OMIM:300049 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Macroglossia... |
OMIM:610253 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Esophageal stenosis, High anterior hairline, Downturned corners of mouth, Hyperkeratosis, Short p... |
OMIM:615510 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology |
ORPHA:3353 |
Jacobsen Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Short neck, Pyloric stenosis, Missing rib... |
OMIM:147791 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Prominent nasal bridge, Micrognathia, Broad nasal tip, Sensorineural hearing impairment, Wide nas... |
OMIM:300749 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Tapered finger, Pectus excava... |
OMIM:618975 |
Microphthalmia With Brain And Digit Anomalies |
|
Postaxial foot polydactyly, Finger syndactyly, High palate, Proximal placement of thumb |
ORPHA:139471 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Short femur, Anteverted nares, Metaphyseal spurs, Recurrent fractures, Depressed nasa... |
OMIM:618188 |
X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Dental crowding, Pectus carinatum, High palate, Short philtrum, Thickened ... |
ORPHA:3063 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Exaggerated cupid's bow, Camptodactyly of finger, Abnormality of the dentition... |
ORPHA:284160 |
Craniofrontonasal Syndrome |
|
Short neck, Sprengel anomaly, Clinodactyly of the 5th finger, Joint laxity, Broad hallux, Cleft u... |
OMIM:304110 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Osteopenia, Chronic gastritis, Mandibular prognathia, Single transverse palmar crease, Micrognath... |
OMIM:150230 |
Occipital Horn Syndrome |
|
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Pectus carinatum, Hyperextensible skin... |
ORPHA:198 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Short hallux, Abnormality of the dentition, Abnormal metacarpa... |
ORPHA:3224 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose, Thick vermilion border, Long philtrum |
ORPHA:833 |
Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Prominent nasal bridge, Pectus excavatum, Short toe, Wide nasal bridge, Orofac... |
ORPHA:1519 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Broad jaw, Dental crowding, Micrognathia, Submucous cleft lip, Cleft p... |
ORPHA:96170 |
Mullegama-Klein-Martinez Syndrome |
|
Micrognathia, Prominent nose, Short philtrum, Clinodactyly of the 5th finger, Bifid uvula, Depres... |
OMIM:301022 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Tongue atrophy, Tongue fasciculations, Intrinsic hand muscle atrophy |
OMIM:620285 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Delayed eruption of primary teeth, Widely spaced primary teeth, Hypoplasia... |
ORPHA:90322 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Hiatus hernia, Dental crowding, Persistence of primary teeth |
OMIM:619769 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Enamel hypoplasia, Ankylog... |
OMIM:618874 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose, Arachnodactyly, Micrognathia |
ORPHA:1129 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Hand polydactyly, Bilateral single transverse palmar creases, Brachydactyly |
ORPHA:2377 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... |
ORPHA:96264 |
Neonatal Marfan Syndrome |
|
Long toe, Arachnodactyly, Micrognathia, Long fingers, High, narrow palate, Flexion contracture, W... |
ORPHA:284979 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Gastrointestinal dysmotility, Hemivertebrae, Protruding ear, Downturne... |
ORPHA:500150 |
19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Sandal gap, Cleft palate, Deep palmar crease, Thin vermilion borde... |
ORPHA:254346 |
Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Oligodactyly |
ORPHA:2440 |
Loeys-Dietz Syndrome 3 |
|
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abnormal sternum morphology, High palate, ... |
OMIM:613795 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Knee flexion contracture, High... |
OMIM:617402 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Uplifted earlobe, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Clinodactyly ... |
OMIM:280000 |
Bronchogenic Cyst |
|
Back pain, Abnormal stomach morphology, Abnormal lumbar spine morphology, Dysphagia, Abnormality ... |
ORPHA:2357 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala... |
ORPHA:3241 |
Alg12-Cdg |
|
Redundant skin, Proximal placement of thumb, Micrognathia, Short philtrum, Gastroesophageal reflu... |
ORPHA:79324 |
Agnathia-Otocephaly Complex |
|
Micrognathia, Aglossia, Cleft palate, Narrow mouth, Mandibular aplasia, Microglossia |
OMIM:202650 |
Tooth Agenesis, Selective, 4 |
|
Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ... |
OMIM:150400 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Macrodontia of permanent maxillary central incisor, Retrognathia |
ORPHA:466722 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Posteriorly rotated ears, Depressed nasal bridge, Choanal atresia, Celiac disease, Absent cupid's... |
ORPHA:284169 |
Degcags Syndrome |
|
Osteopenia, Micrognathia, Oral-pharyngeal dysphagia, Prominent nose, High palate, Pallor, Gastroe... |
OMIM:619488 |
Ring Chromosome 22 Syndrome |
|
Large hands, Thick vermilion border, 2-3 toe syndactyly, Protruding tongue |
ORPHA:1446 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Mandibular prognathia, Single transverse palmar crease, Tapered finger, Protruding tongue, Broad ... |
OMIM:617804 |
Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Anteverted nares, Postaxial hand polydactyly, Esophageal ... |
OMIM:216360 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Micrognathia, Flexion contracture, Osteoporosis, Large earlobe, Scoliosis, Short nose |
OMIM:615851 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acantholysis, Esophageal stricture, Erythema, Dysphagia |
ORPHA:36426 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... |
ORPHA:1422 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Carious teeth, Pyloric stenosis, Eclabion, Meckel diverticulum |
OMIM:616395 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Short neck, Anorectal anomaly, Abnormal form of th... |
ORPHA:233 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Micrognathia |
OMIM:616901 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Posteriorly rotated ears, Narrow nasal ridge, Underdeveloped nasal alae, Pyloric sten... |
OMIM:614438 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Joint laxity, Death in infancy, Sandal gap, Redundant skin, Single transverse palmar ... |
OMIM:613177 |
Familial Visceral Myopathy |
|
Low-set, posteriorly rotated ears, Aganglionic megacolon, Arachnodactyly, Camptodactyly of finger... |
ORPHA:2604 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Wide mouth, Thin vermilion border,... |
ORPHA:217346 |
Schizophrenia 1 |
|
Syndactyly, Short proximal phalanx of the 4th toe |
OMIM:181510 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Short metacarpal, Mixed hearing impairment, Cleft upper lip, Pectus excava... |
OMIM:201180 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia |
ORPHA:2050 |
Myoclonic-Astatic Epilepsy |
|
Syndactyly, Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Long philtrum, Broad... |
ORPHA:1942 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Carious teeth, Esophageal stricture, Osteoporosis, Palmoplantar hyperkeratosis, Microdontia, Oral... |
OMIM:224230 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly |
OMIM:615284 |
Fetal Akinesia Deformation Sequence 1 |
|
Elbow contracture, Micrognathia, Short neck, High, narrow palate, Congenital contracture, High pa... |
OMIM:208150 |
Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Aganglionic megacolon, Tarsal synostosis, Postaxial hand polydactyly, Cleft pa... |
ORPHA:2473 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Microphthalmia, Syndromic 2 |
|
Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Con... |
OMIM:300166 |
Frontofacionasal Dysplasia |
|
Encephalocele, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, D... |
ORPHA:1791 |
Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula... |
OMIM:252600 |
Nail-Patella Syndrome |
|
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the later... |
OMIM:161200 |
Ring Chromosome 21 Syndrome |
|
Syndactyly, Clinodactyly, Small hand, Narrow palm |
ORPHA:1445 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Dental crowding, Micrognathia, High, narrow palate,... |
ORPHA:96182 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Long nose, Prominent nose, Bulbo... |
ORPHA:3047 |
Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Prominent nasal bridge, Micrognathia, Preaxial polydacty... |
OMIM:243605 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Smoo... |
ORPHA:3206 |
White-Kernohan Syndrome |
|
Joint laxity, Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed n... |
OMIM:619426 |
Dihydropyrimidinase Deficiency |
|
Short phalanx of finger, Talipes equinovarus, Anal atresia |
OMIM:222748 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Micrognathia, Low-set ears, Cutis laxa |
OMIM:301045 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Craniosynostosis, Abnormality of the dentition, Short neck, Deep phil... |
ORPHA:251038 |
Coffin-Siris Syndrome |
|
Joint laxity, Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Depressed na... |
ORPHA:1465 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... |
ORPHA:50815 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Depressed nasal bridge, Accessory oral frenulum, Postaxial polydactyly, Aplastic clavicle, Microm... |
OMIM:616546 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Depressed nasal ridge, Bifid uvula, Microretrognathia, Mesoaxial polydactyly, Low-... |
ORPHA:672 |
Cholesteryl Ester Storage Disease |
|
Pruritus, Esophageal varix |
ORPHA:75234 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Joint laxity, Narrow nasal bridge, Dental crowding, Kyphoscoliosis, Prominent nose... |
OMIM:300967 |
Branchiooculofacial Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short neck, Gastroeso... |
OMIM:113620 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Hearing impairment, Micrognathia, Submucous cleft hard palate, Vertebral clefti... |
OMIM:301043 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Dysphagia, Esophageal web, Pallor, Narro... |
ORPHA:54028 |
Joubert Syndrome 33 |
|
Syndactyly |
OMIM:617767 |
Immunodeficiency 23 |
|
Eosinophilia, Eczema, Allergic rhinitis, Esophageal stricture, Erythema, Sensorineural hearing im... |
OMIM:615816 |
Constricting Bands, Congenital |
|
Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus |
OMIM:217100 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, High palate |
OMIM:614520 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Conductive hearing impairment, Depressed nasal ridge, Narrow chest, Limb undergrowth, Abnormal me... |
ORPHA:1861 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Dentinogenesis imperfecta, Hip ... |
OMIM:616507 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Bilateral single transverse palmar creases, ... |
ORPHA:1001 |
Peripheral Dysostosis |
|
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Wide nose, Depressed nasal bridge, Micromelia, Cleft upper lip, Micrognathia, Preaxial hand polyd... |
ORPHA:93271 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Preaxial polydactyly |
ORPHA:64754 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Abnormality of upper lip vermillion, Sandal gap, Posteriorly rotated ears, Cranios... |
ORPHA:506358 |
Cerebellofaciodental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion |
OMIM:616202 |
Filippi Syndrome |
|
Finger syndactyly, Enlarged epiphyses, Thin vermilion border, Short philtrum, Clinodactyly of the... |
ORPHA:3255 |
Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Abnormality of the temporomandibular joint, Soft, doughy skin, Phalangeal dislocation... |
ORPHA:287 |
Brittle Cornea Syndrome |
|
Hallux valgus, Arachnodactyly, Abnormality of the dentition, Sensorineural hearing impairment, Os... |
ORPHA:90354 |
Okamoto Syndrome |
|
Tented upper lip vermilion, Redundant neck skin, Downturned corners of mouth, Gastroesophageal re... |
ORPHA:2729 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short foot, Hand polydactyly, High palate, Foot polydactyly... |
ORPHA:250989 |
Naxos Disease |
|
Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm... |
OMIM:601214 |
Fg Syndrome 5 |
|
Anteverted nares, Depressed nasal bridge, Diastema, Long philtrum, Short nose |
OMIM:300581 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Micrognathia, Downturned corners of mouth, Glossoptosis, High palate, Gastroesophageal reflux, Co... |
ORPHA:444077 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Depressed nasal bridge, Bulbous nose, Thick lower lip vermilion, Submucous... |
OMIM:619103 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration |
OMIM:614376 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, High, narrow palate, Abnormal 5th finger morphology, Symphalangism of the thumb, Clin... |
ORPHA:1439 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Arachnodactyly, Abnormal pinna morphology, Depressed nasal bridge, ... |
OMIM:614437 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Epiphyseal stippling, Ecchymosis, Short nose, Joint hemorrhage, Short distal phalanx o... |
OMIM:277450 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... |
OMIM:608836 |
Portal Hypertension, Noncirrhotic, 2 |
|
Epistaxis, Esophageal varix, Hepatocellular carcinoma, Ecchymosis, Petechiae |
OMIM:619463 |
Fg Syndrome Type 1 |
|
Finger syndactyly, Broad toe, Limited elbow extension and supination, Dental crowding, Single tra... |
ORPHA:93932 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Cleft ala nasi, Osteopathia striata, Short metatarsal, Anteriorly pla... |
OMIM:305600 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, ... |
ORPHA:508488 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Redundant skin, Neonatal wrinkled skin of hands and feet,... |
OMIM:278250 |
Meier-Gorlin Syndrome 7 |
|
Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, High palate, Dislocate... |
OMIM:617063 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Sandal gap, Broad hallux, Dental crowding, Narrow palate, Hip dysplasia... |
OMIM:616078 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Cutis laxa, Scaling skin, Eclabion, Dry skin, Generalized hyperkeratosis |
ORPHA:2269 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Tal... |
OMIM:236500 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Small hypothenar eminence, Choanal atresia, Short thumb, Osteoporosis, Cleft palate, ... |
OMIM:612562 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Macrodontia, Proximal placement of thumb, Coxa valga, Diastema, Protruding... |
OMIM:212066 |
Tyrosinosis |
|
Hypertyrosinemia |
OMIM:276800 |
Chops Syndrome |
|
Anteverted nares, Thickened helices, Hearing impairment, High, narrow palate, Downturned corners ... |
OMIM:616368 |
Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Joint laxity, Os odontoideum, Adducted thumb, Hip dislocation, Cutis laxa, Protruding... |
OMIM:616603 |
Hypomandibular Faciocranial Dysostosis |
|
Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia |
OMIM:241310 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Protruding tongue, Abnormal thumb morphology, Everted lower lip vermilion,... |
ORPHA:324410 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Microm... |
ORPHA:1675 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De... |
OMIM:610829 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cutaneous syndact... |
OMIM:270400 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of... |
OMIM:604292 |
Emanuel Syndrome |
|
Broad jaw, Dental crowding, Intestinal malrotation, Delayed eruption of primary teeth, Micrognath... |
OMIM:609029 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:612462 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Joint hypermobility, Hiatus hernia, Hyperextensible skin, Soft skin, Striae distensae |
OMIM:606408 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Mandibular prognathia, Thickened ribs, Short neck, Pectus carinatum, Cortical thicken... |
ORPHA:309282 |
Cerebellar-Facial-Dental Syndrome |
|
Micrognathia, Dental malocclusion, Alveolar ridge overgrowth, Taurodontia, Long philtrum, Macrodo... |
ORPHA:444072 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners ... |
ORPHA:280 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Long philtrum |
ORPHA:263463 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Abnormal pinna morphology, Craniosynostosis, Micromelia, Short neck, Postaxial... |
OMIM:200995 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Radial deviation of the hand, Hypoplasia of the ulna, Sandal gap, Short humerus, Anal... |
OMIM:607323 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Hydranencephaly, Tracheomalacia, Spina bifida, Micrognathia, Conductive hearing... |
ORPHA:1393 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
Carey-Fineman-Ziter Syndrome 1 |
|
Tapered finger, Micrognathia, Trismus, Pierre-Robin sequence, Cleft palate, Glossoptosis, Pectora... |
OMIM:254940 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Joint laxity, Hyperextensible skin, Petechiae, Striae distensae |
OMIM:225310 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Choanal atresia, Midnasal sten... |
ORPHA:280200 |
Doors Syndrome |
|
Short lingual frenulum, Abnormal finger morphology, Hemivertebrae, Downturned corners of mouth, W... |
ORPHA:79500 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Uplifted earlobe, Tap... |
OMIM:616734 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Abnormal dental enamel morphology, Abnormality of the elbow, Hip dislocation, ... |
ORPHA:1005 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor |
OMIM:300291 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... |
ORPHA:37553 |
Silver-Russell Syndrome 3 |
|
Clinodactyly of the 5th finger, Syndactyly, Retrognathia, Small hand |
OMIM:616489 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Micrognathia |
ORPHA:73272 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Depressed nasal ridge, Orofacial cleft, High palate, Gastroesophageal reflux, Conductive hearing ... |
OMIM:607872 |
Chand Syndrome |
|
Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... |
ORPHA:1401 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Hypoplasia of the premaxilla, Flat... |
OMIM:610828 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Gastroesophageal reflux, Short nose, Tented upper lip vermilion, Short philtrum |
ORPHA:85277 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d... |
ORPHA:2907 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Abnormality of bone mineral d... |
ORPHA:861 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Posteriorly rotated ears, D... |
OMIM:619479 |
Gracile Bone Dysplasia |
|
Slender long bone, Ankyloglossia, Flared metaphysis, Brachydactyly |
OMIM:602361 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... |
ORPHA:2250 |
Macrocephaly/Autism Syndrome |
|
Joint laxity, Depressed nasal bridge, Cutis laxa, High palate, Long philtrum, Short nose |
OMIM:605309 |
Familial Cervical Artery Dissection |
|
Striae distensae |
ORPHA:36382 |
Alg8-Cdg |
|
Abnormality of the gastrointestinal tract, Cutis laxa, Macroglossia, Talipes equinovarus, Low-set... |
ORPHA:79325 |
Peters Plus Syndrome |
|
Micromelia, Micrognathia, Short neck, Widely spaced teeth, Conductive hearing impairment, Clinoda... |
ORPHA:709 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Cleft upper lip, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia... |
OMIM:603671 |
Mirage Syndrome |
|
Rocker bottom foot, Radial club hand, Esophageal stricture, Gastroesophageal reflux, Talipes equi... |
OMIM:617053 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Single transverse palmar crease, Long nose, Downturned corners of mouth, High palate, Clinodactyl... |
OMIM:619522 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... |
ORPHA:568 |
Lelis Syndrome |
|
Mandibular prognathia, Carious teeth, Palmoplantar hyperkeratosis, Furrowed tongue, Hypodontia |
ORPHA:140936 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:103580 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Dental crowding, Aganglionic megacolon, Postaxial polydactyly, High, narrow palate, P... |
OMIM:209900 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Oral mucosal blisters, Congenital pyloric atresia, Microtia, Neonatal death |
OMIM:619817 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Carious teeth, Supernumerary tooth, Adenomatous colonic polyposis, Multiple g... |
OMIM:175100 |
Aicardi Syndrome |
|
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Cleft upper lip, Hiatus hern... |
ORPHA:50 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Generalized joint laxity, Excessive skin wrinkling on dor... |
ORPHA:2834 |
Mend Syndrome |
|
Sacral dimple, Overlapping toe, Broad hallux, Abnormal auditory evoked potentials, Asymmetry of t... |
ORPHA:401973 |
8P Inverted Duplication/Deletion Syndrome |
|
Micrognathia, High, narrow palate, Abnormality of dental eruption, Wide mouth, Everted lower lip ... |
ORPHA:96092 |
Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, 2-3 finger syndactyly, Dental malocclusion, Deviation of finge... |
OMIM:269500 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Prominent nose, Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, ... |
ORPHA:319675 |
Immunodeficiency 49 |
|
Natal tooth, Short philtrum, Micrognathia |
OMIM:617237 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Wide mouth, Hand polydactyly, Foot polydactyly |
ORPHA:60040 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Tooth malposition, Micrognathia |
ORPHA:2484 |
Geleophysic Dysplasia 2 |
|
Thin upper lip vermilion, Ovoid vertebral bodies, Joint stiffness, Limitation of joint mobility, ... |
OMIM:614185 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Joint laxity, Thin upper lip vermilion, Mandibular prognathia, Prominent nasal tip, Sandal gap, P... |
OMIM:620330 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
Warburg Micro Syndrome 2 |
|
Overlapping toe, Prominent nasal bridge, Asymmetry of the ears, Flexion contracture, Short nose, ... |
OMIM:614225 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration |
ORPHA:90060 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Abnormality of the dentition, Esophageal stricture, Palmoplantar hyperkeratosis, Premature grayin... |
OMIM:613989 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose, Hearing impairment, Micrognathia |
OMIM:256600 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Micrognathia, Orofacial cleft, Abnormal form of the vertebral bo... |
OMIM:194190 |
Short Syndrome |
|
Delayed eruption of teeth, Micrognathia, Dental malocclusion, Downturned corners of mouth, Hypodo... |
OMIM:269880 |
Craniofacioskeletal Syndrome |
|
Barrel-shaped chest, Thin upper lip vermilion, Posteriorly rotated ears, Choanal atresia, Microgn... |
OMIM:300712 |
Williams Syndrome |
|
Osteopenia, Redundant skin, Micrognathia, Rectal prolapse, Abnormal form of the vertebral bodies,... |
ORPHA:904 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Micrognathia, Protruding ear, High palate, Short philtrum, Death in childh... |
OMIM:309500 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Enamel hypoplasia, Carious teeth |
OMIM:277440 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Choanal atresia, Micrognathia, Cleft palate, Wide mouth, Microtia, Abnormal pa... |
OMIM:154500 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Short lingual frenulum, Aplasia/Hypoplasia involving bones of the skull, Unilateral b... |
ORPHA:1521 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Osteoporosis, Facial erythema, Biconcave vertebral bodies, Ecchymosis, Vertebral compre... |
OMIM:219090 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Limb undergrowth, Flexion contracture, Gastroesophageal reflux, Single transverse palmar crease |
ORPHA:79243 |
Cdags Syndrome |
|
Sagittal craniosynostosis, Rectourethral fistula, Kyphosis, Sensorineural hearing impairment, Cle... |
OMIM:603116 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia... |
ORPHA:306542 |
Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrow... |
OMIM:615108 |
Khan-Khan-Katsanis Syndrome |
|
Sacral dimple, Tented upper lip vermilion, Postaxial polydactyly, Micrognathia, Sensorineural hea... |
OMIM:618460 |
Walker-Warburg Syndrome |
|
Metatarsus valgus, Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:899 |
Kindler Syndrome |
|
Anal stenosis, Esophageal stenosis, Carious teeth, Gingivitis, Palmoplantar hyperkeratosis, Perio... |
OMIM:173650 |
Pterygium Colli, Isolated |
|
Short nose, Protruding ear |
OMIM:177990 |
Loeys-Dietz Syndrome 1 |
|
Joint laxity, Arachnodactyly, Craniosynostosis, Eosinophilic infiltration of the esophagus, Micro... |
OMIM:609192 |
Myopathy, Myofibrillar, 7 |
|
Elbow flexion contracture, Tongue atrophy, Shoulder flexion contracture, Talipes equinovarus |
OMIM:617114 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Hearing impairment, Micrognathia, Cleft lip, Kyphosis, ... |
ORPHA:1724 |
Menkes Disease |
|
Joint laxity, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Cutis laxa, Death in childhood |
OMIM:309400 |
Septo-Optic Dysplasia Spectrum |
|
Esophageal atresia, Sensorineural hearing impairment, Anosmia, Tracheoesophageal fistula, Cleft p... |
ORPHA:3157 |
Limb Body Wall Complex |
|
Cutaneous finger syndactyly, Aplasia of the proximal phalanges of the hand, Spina bifida occulta,... |
ORPHA:2369 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Distal clavicular thinning, Micromelia, Bell-shaped thorax, Trapezoidal vertebr... |
OMIM:600092 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Eczema, Con... |
OMIM:305100 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Arachnodactyly, Anteverted nares, Depressed nasal bridge, Abnormal thumb morphology, Sensorineura... |
ORPHA:2719 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Death in infancy, Oral mucosal blisters, Esophageal atresia, Congenital pyloric atresia, Arthrogr... |
OMIM:226730 |
Developmental And Epileptic Encephalopathy 75 |
|
Anteverted nares, Wide nasal bridge, Short philtrum, Open mouth, Short nose |
OMIM:618437 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Cubitus valgus, Syndactyly, Congenital hip dislocation, High palate |
OMIM:104350 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Umbilical hernia, Esophageal varix, Brachydactyly |
OMIM:616028 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Joint laxity, Dental crowding, Joint hypermobility, Pectus excavatum, High palate, Scoliosis, Str... |
OMIM:617168 |
Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Dental crowding, Delayed eruption of permanent teeth, Thin vermilio... |
OMIM:620370 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Erosion of oral mucosa, Foot joint contracture, Anal fissure, Recurrent skin infectio... |
ORPHA:79408 |
X Small Rings |
|
Thin upper lip vermilion, Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergro... |
ORPHA:96201 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Thin upper lip vermilion, Anal stenosis, Micrognathia, Narrow mouth, 2-3 toe cutaneous syndactyly... |
OMIM:620029 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Calcaneovalgus defor... |
ORPHA:261537 |
Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Encephalocele, Short nose, Convex nasal ridge |
OMIM:200130 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Prominent nasal bridge, Broad nasal tip, Long nose, Sensorineural hearing impairment, Tooth malpo... |
OMIM:616541 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis |
ORPHA:2221 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Micrognathia, Dental malocclusion, Localized hypoplasia of dental enamel, Conical incisor, Thin v... |
ORPHA:73223 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Gastrointestinal dys... |
ORPHA:2152 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Wide mouth, Thick vermilion bo... |
ORPHA:1517 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... |
ORPHA:2502 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook, Horizontal ribs, Early ossificat... |
OMIM:208500 |
Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw |
ORPHA:199276 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Carious teeth, Widely spaced teeth, Yellow-brown ... |
OMIM:619229 |
Cerebrofacioarticular Syndrome |
|
Syndactyly, Irregular dentition, Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Narrow m... |
ORPHA:314679 |
Charge Syndrome |
|
Abnormal palmar dermatoglyphics, Micrognathia, Hemivertebrae, Hand monodactyly, Hypoplasia of the... |
OMIM:214800 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Osteopenia, Esophageal varix, Gastrointestinal hemorrhage |
OMIM:617341 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia |
OMIM:618885 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration |
OMIM:266900 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Microgna... |
OMIM:601803 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Esophageal atresia, Hemivertebrae, Tracheoesophageal fistula, Abnormal vertebra... |
ORPHA:77298 |
Gapo Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Everted lower lip vermilion, Long... |
ORPHA:2067 |
Vater/Vacterl Association |
|
Syndactyly, Occipital encephalocele, Abnormal nasopharynx morphology, Choanal atresia, Spina bifi... |
OMIM:192350 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Short r... |
OMIM:615503 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Congenital bilateral hip dislocation |
ORPHA:404451 |
Distal Deletion 15Q |
|
Thin upper lip vermilion, Single transverse palmar crease, Abnormality of the dentition, Microgna... |
ORPHA:1596 |
Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrow... |
OMIM:615109 |
Dend Syndrome |
|
Anteverted nares, Thickened ears, Downturned corners of mouth, Long philtrum, Clinodactyly of the... |
ORPHA:79134 |
Sotos Syndrome |
|
Mandibular prognathia, High, narrow palate, Narrow jaw, Narrow palate, High palate, Advanced erup... |
OMIM:117550 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal pinna morphology, Hearing impai... |
OMIM:184705 |
Curry-Jones Syndrome |
|
Anal stenosis, Intestinal pseudo-obstruction, Duplication of thumb phalanx, Lip pit, Intestinal m... |
OMIM:601707 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnor... |
ORPHA:2363 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Depressed nasal bridge, Postaxial polydactyly, Accessory oral frenulum, Postaxi... |
OMIM:617088 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Congenital hip dislocation, Prominent nose, Abnormal periodontium morphology, High pa... |
ORPHA:480880 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Thick lower lip vermilion, Anal atresia, Abnormality of the dentition |
ORPHA:261652 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of... |
OMIM:129900 |
Monosomy 22 |
|
Finger syndactyly, Single transverse palmar crease, Clubbing, Thin vermilion border, High palate,... |
ORPHA:96123 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Clinodactyly, High palate, Con... |
OMIM:614188 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Advanced eruption of teeth |
ORPHA:2348 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Redundant skin, Kyphoscoliosis, Macrotia, Bulbous nose, Hip dislocation, Wide nasal bridge, Cutis... |
OMIM:617403 |
9q subtelomeric deletion syndrome |
|
Protruding tongue |
DECIPHER:52 |
Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia, Low-set ears, Absent thumb |
OMIM:615272 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Arachnodactyly, Hip dislocation, Cutis laxa |
OMIM:614100 |
Benign Schwannoma |
|
Intestinal polyposis, Nasal polyposis, Abnormal fibula morphology, Abnormal parotid gland morphol... |
ORPHA:252164 |
Short Stature With Microcephaly And Distinctive Facies |
|
Microretrognathia, Syndactyly, Short digit, Proximal placement of thumb, Talipes equinovarus, Sho... |
OMIM:615789 |
Williams-Beuren Syndrome |
|
Osteopenia, Rectal prolapse, Flexion contracture, Gastroesophageal reflux, Clinodactyly of the 5t... |
OMIM:194050 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Abnormal zygomatic ... |
ORPHA:2769 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Cleft soft palate, Intestinal malrotation, Flexion contracture, Genu valgum, Downturned corners o... |
OMIM:619321 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Abnormality of the dentition, Micrognathia, High, narrow palate, Supernumerary tooth... |
ORPHA:2108 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Choanal stenosis, Scaling skin, Death in childhood, Neonatal death, Subungual hyperkeratosis, Dea... |
OMIM:308205 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Gingival overgrowth, Scoliosis, Lon... |
OMIM:619179 |
Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial dupli... |
OMIM:227646 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Popliteal Pterygium Syndrome |
|
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finger syndactyly, Ta... |
OMIM:119500 |
Cardiospondylocarpofacial Syndrome |
|
Pseudoepiphyses, Gastroesophageal reflux, Conductive hearing impairment, Joint laxity, Anteverted... |
OMIM:157800 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
Kbg Syndrome |
|
Syndactyly, Tented upper lip vermilion, Macrodontia, Single transverse palmar crease, Cutaneous s... |
OMIM:148050 |
Hereditary Mucoepithelial Dysplasia |
|
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Submucous cleft hard palate, Bifid uvula |
OMIM:617660 |
Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux |
OMIM:263630 |
Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Sensorineural hea... |
OMIM:122880 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Camptodactyly of finger, Abnormal ... |
ORPHA:2092 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Aplasia of the nasal bone, Jejunal atresia, Ileal atresia, Joint stiffness, Micrognat... |
OMIM:618820 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Sensorineural hearing impairment, Gast... |
ORPHA:1018 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:264700 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Broad hallux, Deviation of the hallux, Accessory oral frenulum, Hamartoma of t... |
ORPHA:434179 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Kyphosis, Osteoporosis, Striae distensae |
OMIM:219080 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Thin upper lip vermilion, Lumbar hyperlordosis, Progressive flexion contractures, E... |
ORPHA:522077 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Gingival overgrowth, Narrow palate, Anteriorly placed anus, High palate, Narrow mout... |
OMIM:123790 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Inflammatory abnormality of the skin, Skin rash, Oral mucosal blisters, Intestinal perforation, A... |
ORPHA:95455 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Selective tooth agenesis, Micrognathia, High, narrow palate, Supernumerary tooth, De... |
OMIM:234100 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Thin upper lip vermilion, Anteverted nares, Uplifted earlobe, Micrognathia, Broad nasal tip, Pect... |
OMIM:618548 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Kyphosis, Osteoporosis, Striae distensae |
OMIM:610475 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Anteverted nares, Retrognathia, Hypoplasia of teeth, Short nose, Macrotia |
OMIM:234050 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Anteverted nares, Depressed nasal bridge, Macroglossia, Concave nasal ridge, Malar flattening, Sh... |
OMIM:613038 |
Mosaic Trisomy 16 |
|
Syndactyly, Single transverse palmar crease, Short thumb, Anteriorly placed anus, Wide mouth, Sho... |
ORPHA:1708 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Calcaneovalgus defor... |
ORPHA:261552 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
Velocardiofacial Syndrome |
|
Abnormality of the hand, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin ... |
OMIM:192430 |
Noonan Syndrome 3 |
|
Hypoplastic nasal bridge, Posteriorly rotated ears, Thickened helices, Sagittal craniosynostosis,... |
OMIM:609942 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Tracheoesophageal fistula, High palate, Talipes equinovarus, Stomatitis... |
OMIM:277380 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly |
OMIM:615631 |
Vacterl/Vater Association |
|
Finger syndactyly, Preaxial hand polydactyly, Non-midline cleft lip, Tracheoesophageal fistula, C... |
ORPHA:887 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, Proximal placement of thumb, Limited elb... |
OMIM:261540 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Selective tooth agenesis, Abnormali... |
ORPHA:2909 |
Rubinstein-Taybi Syndrome 1 |
|
Thin upper lip vermilion, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ... |
OMIM:180849 |
Ablepharon-Macrostomia Syndrome |
|
Short metacarpal, Toe syndactyly, Microtia, third degree, Redundant skin, Abnormal nasal morpholo... |
OMIM:200110 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Downturned corners of mouth, Widely spaced teeth, Torus ... |
OMIM:619539 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micrognathia, Abnormality of the tongue, Orofacial cl... |
ORPHA:2990 |
Timothy Syndrome |
|
Microdontia, Thin upper lip vermilion, Cutaneous syndactyly |
OMIM:601005 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Dental crowding, Intestinal malrotation, Carious teeth, Supernumerary tooth, Talon c... |
ORPHA:353281 |
Rhyns Syndrome |
|
Osteopenia, Radial bowing, Sensorineural hearing impairment, Osteoporosis, Short long bone, Short... |
OMIM:602152 |
Carpenter Syndrome 1 |
|
Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Agenesis of permanent teet... |
OMIM:201000 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Tongue atrophy, A... |
ORPHA:101085 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Intestinal pseudo-obstruction, Thick lower lip vermilion, Macroglossia... |
OMIM:309900 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Multiple joint contractures, Short neck, Metaphyseal widening, Irregular vertebral endplates, Met... |
ORPHA:99646 |
Adenylosuccinase Deficiency |
|
Thin upper lip vermilion, Anteverted nares, Wide mouth, Low-set ears, Long philtrum, Short nose, ... |
OMIM:103050 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Skin rash, Eczema, Erythema nodosum, Aphthous ulcer, Esophageal varix, Oral ulcer, Skin ulcer, Ar... |
OMIM:615688 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal... |
ORPHA:411634 |
Diamond-Blackfan Anemia 8 |
|
Short nose, Thick upper lip vermilion, Wide nasal bridge |
OMIM:612563 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Wide mouth |
ORPHA:1231 |
Melkersson-Rosenthal Syndrome |
|
Macroglossia, Cheilitis, Furrowed tongue |
ORPHA:2483 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Spontaneous, recurrent epistaxis, Pectus excavatum, Sensorineural hearing impairme... |
ORPHA:2072 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Intestinal malrotation, Micrognathia, Esophageal atresia, Cleft lip, Tracheoesophageal fistula, C... |
OMIM:265380 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Pruritus, Esophageal varix, Gastric varix, Hepatocellular carcinoma |
ORPHA:64743 |
Portal Hypertension, Noncirrhotic, 1 |
|
Esophageal varix |
OMIM:617068 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wri... |
OMIM:268300 |
Glycogen Storage Disease Iv |
|
Arthrogryposis multiplex congenita, Esophageal varix |
OMIM:232500 |
Charge Syndrome |
|
Abnormal tibia morphology, Hemivertebrae, Hypoplasia of the semicircular canal, Gastroesophageal ... |
ORPHA:138 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Short nose, Wide nasal bridge, Multiple palmar creases |
OMIM:611936 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Eczema, Narrow nasal ... |
ORPHA:464306 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Postaxi... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Postaxi... |
ORPHA:352665 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Delayed eruption of permanent teeth, Tented upper lip vermilion, Short phi... |
ORPHA:521445 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Malabsorp... |
ORPHA:2136 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... |
OMIM:617821 |
Genitopatellar Syndrome |
|
Congenital hip dislocation, Micrognathia, Prominent nose, Knee flexion contracture, Anteriorly pl... |
OMIM:606170 |
Double Outlet Right Ventricle |
|
Submucous cleft hard palate, Intestinal malrotation, Cleft palate, Narrow mouth |
ORPHA:3426 |
Ablepharon Macrostomia Syndrome |
|
Toe syndactyly, Anteverted nares, Redundant skin, Camptodactyly of finger, Depressed nasal bridge... |
ORPHA:920 |
Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Thin upper lip vermilion, Anteverted nares, Overfolded helix, Low-set ears, Narrow mouth, Short nose |
OMIM:613735 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Cleft lip, Posta... |
OMIM:615948 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly |
OMIM:149000 |
Cowden Syndrome 1 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrow... |
OMIM:158350 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Narrow chest, Scoliosis, Brachydactyly |
OMIM:613819 |
Meckel Syndrome, Type 1 |
|
Syndactyly, Bowing of the long bones, Thin upper lip vermilion, Natal tooth, Camptodactyly of fin... |
OMIM:249000 |
Frontofacionasal Dysplasia |
|
Cleft upper lip, Underdeveloped nasal alae, Orofacial cleft, Midline defect of the nose, Bifid no... |
OMIM:229400 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrow... |
ORPHA:769 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Long philtrum, Micrognathia |
ORPHA:85201 |
Prader-Willi Syndrome |
|
Syndactyly, Thin upper lip vermilion, Carious teeth, Acromicria, Small hand, Narrow palm, Genu va... |
OMIM:176270 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Short hard palate, Genu varum |
ORPHA:1969 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bo... |
OMIM:112250 |
Gardner Syndrome |
|
Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo... |
ORPHA:79665 |
Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Thoracolumbar scoliosis, Celiac disease, Hematemesis, ... |
OMIM:301068 |
Toriello-Lacassie-Droste Syndrome |
|
Brachydactyly, Aganglionic megacolon, Anteverted nares, Short palm, Short nose, Hearing impairment |
ORPHA:3339 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Ulnar deviation of the hand, Rocker bottom foot, Single transverse palmar crease, Protruding tong... |
OMIM:214100 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Delayed eruption of primary teeth, Abnormality of the dentition, Widely sp... |
ORPHA:90321 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue |
ORPHA:98795 |
Cadds |
|
Short nose, Sensorineural hearing impairment, Micrognathia |
ORPHA:369942 |
Arboleda-Tham Syndrome |
|
Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Intestinal malrotation, Cleft... |
OMIM:616268 |
Hartsfield Syndrome |
|
Syndactyly, Median cleft lip, Cleft upper lip, Cleft palate, Ectrodactyly, Hypoplasia of the fron... |
OMIM:615465 |
Noonan Syndrome 1 |
|
Pectus excavatum of inferior sternum, Hearing impairment, Micrognathia, Short neck, High, narrow ... |
OMIM:163950 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Single transverse palmar crease, Protruding tongue, Micrognathia, Bil... |
OMIM:619777 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Depressed nasal bridge, Sensorineural hearing impairment, Gout, Wide mouth, High palate, Low-set ... |
OMIM:300661 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Nail dystrophy, Esophageal stenosis, Oral leukoplakia, Abnormality of the dentition |
OMIM:616553 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l... |
ORPHA:369950 |
Ramon Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Narrow palate |
OMIM:266270 |
Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Cleft palate, Furrowed tongue, Downturned corners of mouth, Macroglossia, Oligodontia, Branchial ... |
ORPHA:453499 |
14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Short foot, Downturned corners of mouth, Short p... |
ORPHA:264200 |
Bazex-Dupre-Christol Syndrome |
|
Furrowed tongue |
OMIM:301845 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Kyphosis, Osteoporosis, Striae distensae |
OMIM:610489 |
Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Protruding tongue, Micro... |
OMIM:617062 |
Kabuki Syndrome 1 |
|
Congenital hip dislocation, Micrognathia, Protruding ear, High palate, Prominent fingertip pads, ... |
OMIM:147920 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated circulating creatinine concentration |
ORPHA:247691 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Intestinal malrotation, Pectus excavatum, Rickets, Esophageal varix, Re... |
OMIM:613658 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Micrognathia, Pos... |
OMIM:619879 |
Spinocerebellar Ataxia 36 |
|
Tongue atrophy, Tongue fasciculations |
OMIM:614153 |
Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth, Xerostomia |
OMIM:180920 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Choanal atresia, Cleft palate, Cutis laxa, Rectovaginal fistula, Low-set ... |
OMIM:270420 |
Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Barrel-shaped chest, Lumbar hyperlordosis, Joint stiffness, Short neck, Flexion contracture, Lumb... |
ORPHA:505248 |
Wolman Disease |
|
Esophageal varix, Steatorrhea |
ORPHA:75233 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Single transverse palmar crease, High, narrow palate, Protruding ear, Abnormal curvatu... |
OMIM:619475 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Wide mouth, Aplasia/Hypoplasia of the middle ear, Microtia, Anotia, Conductive hearing impairment |
OMIM:251800 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enamel hypoplasia |
ORPHA:289157 |
Congenital Sialidosis Type 2 |
|
Polydactyly, Gingival overgrowth, Protruding tongue |
ORPHA:93400 |
Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Gingival fibromatosis, Dow... |
OMIM:135500 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose |
ORPHA:289266 |
Hartnup Disease |
|
Glossitis, Gingivitis, Malabsorption |
ORPHA:2116 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Sparse scalp hair, Esophageal stricture, Pancolitis, Inflammation of the large intestine, Nail dy... |
OMIM:620133 |
Angelman Syndrome |
|
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi... |
OMIM:105830 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo... |
ORPHA:733 |
Fgfr2-Related Bent Bone Dysplasia |
|
Natal tooth, Gingival overgrowth, Micrognathia |
ORPHA:313855 |
Adult Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormality of the dentition, Spli... |
ORPHA:978 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Orofacial cleft, Abnormality of the upper limb, ... |
ORPHA:1556 |
1P21.3 Microdeletion Syndrome |
|
Micrognathia, Broad nasal tip, Wide mouth, Long ear, Short nose, Joint hypermobility |
ORPHA:293948 |
Icf Syndrome |
|
Macroglossia, Malabsorption, Micrognathia, Protruding tongue |
ORPHA:2268 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Natal tooth, Dental crowding, Intestinal malrotation, Micrognathia, Carious teeth, Supernumerary ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Natal tooth, Dental crowding, Intestinal malrotation, Micrognathia, Carious teeth, Supernumerary ... |
ORPHA:353277 |
Spinocerebellar Ataxia Type 36 |
|
Tongue atrophy, Tongue fasciculations |
ORPHA:276198 |
Cholesteryl Ester Storage Disease |
|
Death in infancy, Esophageal varix, Steatorrhea |
OMIM:278000 |
Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
Psoriasis 14, Pustular |
|
Geographic tongue, Furrowed tongue |
OMIM:614204 |
Angelman Syndrome Due To A Point Mutation |
|
Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue |
ORPHA:411511 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Pulp calcification, Taurodontia, Enamel hypoplasia |
OMIM:211900 |
Pachyonychia Congenita 3 |
|
Chapped lip, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Palmar hyperkeratosis, Oral l... |
OMIM:615726 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Anteverted nares, Protruding tongue, Downturned corners of mouth, Macroglossia, Everted lower lip... |
ORPHA:96147 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Flexion contracture, Esophageal varix |
ORPHA:367 |
Microtia |
|
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic ... |
ORPHA:83463 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Dermal translucency, Redundant neck skin, Redundant skin, Hip dislocati... |
ORPHA:90348 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, A... |
ORPHA:534 |
Renal And Mullerian Duct Hypoplasia |
|
Short nose, Micrognathia |
OMIM:266810 |
Non-Syndromic Posterior Hypospadias |
|
Esophageal atresia, Anal atresia, Cleft palate |
ORPHA:95706 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Micrognathia, Cleft lip, Furrowed tongue, Hip dysplasia, High palate, Broad alveolar ... |
OMIM:616975 |
Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
Charcot-Marie-Tooth Disease Type 4C |
|
Tongue atrophy, Hammertoe, Hip dysplasia, Tongue fasciculations, Difficulty in tongue movements |
ORPHA:99949 |
Opitz Gbbb Syndrome |
|
Natal tooth, Micrognathia, Cleft lip, Tracheoesophageal fistula, Cleft palate, Ectopic anus, High... |
ORPHA:2745 |
Slc39A8-Cdg |
|
Osteopenia, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Cutaneous synd... |
ORPHA:468699 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Hand muscle weakness, Areflexia of upper... |
ORPHA:99956 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Mandibular aplasia, Microglossia, Narrow mouth |
ORPHA:990 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... |
ORPHA:464 |
Down Syndrome |
|
Sandal gap, Aganglionic megacolon, Single transverse palmar crease, Protruding tongue, Hypoplasti... |
OMIM:190685 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Alveolar ridge overgrowth, Gingival overgrowth, Widely spaced teeth, M... |
OMIM:301072 |
Oligomeganephronia |
|
Elevated circulating creatinine concentration |
ORPHA:2260 |
Methimazole Embryofetopathy |
|
Esophageal atresia, Choanal atresia, Tracheoesophageal fistula |
ORPHA:1923 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
Joubert Syndrome 1 |
|
Protruding tongue, Postaxial hand polydactyly, Postaxial foot polydactyly, Macroglossia, Triangul... |
OMIM:213300 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Glossitis, Cleft palate |
ORPHA:79284 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Thin vermilion border, High palate, Polydactyly, Retrognathia |
OMIM:619869 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Tongue atrophy, Tongue fasciculations |
OMIM:211530 |
Hydrolethalus Syndrome 1 |
|
Median cleft lip, Abnormal pinna morphology, Micrognathia, Preaxial hand polydactyly, Postaxial h... |
OMIM:236680 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Enamel hypoplasia |
ORPHA:94089 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, High palate, Triphalangeal thumb, Clinodactyly of the 5t... |
ORPHA:84 |
Lead Poisoning |
|
Delayed eruption of teeth |
ORPHA:330015 |
Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Hiatus hernia, Wide mouth, Thick vermilion border, Short philtrum, Esophag... |
ORPHA:2896 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Chronic Graft Versus Host Disease |
|
Esophageal stricture, Erythema, Flexion contracture, Xerostomia, Skin ulcer, Abnormal esophagus p... |
ORPHA:99921 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Acne, Osteoporosis, Striae distensae, Increased susceptibility to fractures |
ORPHA:189427 |
Acrodermatitis Enteropathica |
|
Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis |
ORPHA:37 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Abnormal pinna morphology, Choanal atresia, Absent tragus, Cleft lip,... |
OMIM:603457 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Esophageal varix, Gastrointes... |
ORPHA:131 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Hypoplasia of the maxilla, Delayed eruption of teeth, Gingival overgrowth, Micrognathia |
OMIM:259600 |
X-Linked Agammaglobulinemia |
|
Glossoptosis, Malabsorption |
ORPHA:47 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
U-Shaped upper lip vermilion, Thin upper lip vermilion, Tented upper lip vermilion, Tapered finge... |
OMIM:309580 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Clinodactyly |
ORPHA:2169 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Colitis, Nail dystrophy |
OMIM:615190 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
Meckel Syndrome |
|
Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Micrognathia, Preaxial hand polydacty... |
ORPHA:564 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid stern... |
ORPHA:63260 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Erosion of oral mucosa, Recurrent skin infections, Abnormal oral mucosa morphology, Abnormal fing... |
ORPHA:79404 |
Cushing Disease |
|
Acne, Intra-oral hyperpigmentation, Osteoporosis, Skin ulcer, Recurrent cutaneous fungal infectio... |
ORPHA:96253 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Microdontia, Elbow flexion contracture, Oral leukoplakia, Furrowed tongue |
OMIM:148210 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Esophageal varix, Osteoporosis, Hepatocellular adenoma |
ORPHA:264580 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Hand clenching, Protruding tongue |
OMIM:619580 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Delayed eruption of primary teeth |
OMIM:300952 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Micrognathia, Esophageal varix, Depressed nasal ... |
ORPHA:731 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Wide mouth, Gingival overgrowth, Protruding tongue |
OMIM:618797 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Pruritus, Esophageal varix |
OMIM:619662 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Oligodontia, Hypodontia, Conical tooth |
OMIM:308300 |
Arima Syndrome |
|
Postaxial hand polydactyly, Esophageal varix, Postaxial foot polydactyly, Wide mouth, Occipital m... |
OMIM:243910 |
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ankyloglossia |
OMIM:619352 |
Osteopetrosis With Renal Tubular Acidosis |
|
Persistence of primary teeth, Micrognathia, Abnormality of the dentition, Thick lower lip vermili... |
ORPHA:2785 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation |
OMIM:277320 |
Mckusick-Kaufman Syndrome |
|
Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Postax... |
OMIM:236700 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Advanced eruption of teeth, Micrognathia |
ORPHA:280365 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Joint laxity, Arachnodactyly, Redundant skin, Pectus excavatum, Cutis laxa, Umbilical hernia |
OMIM:219100 |
Wilson Disease |
|
Osteomalacia, Osteoarthritis, Esophageal varix, Osteoporosis, Dysphagia, Hepatocellular carcinoma... |
OMIM:277900 |
Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Protruding tongue |
OMIM:614325 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue |
ORPHA:98794 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Uplifted earlobe, Pectus excavatum, Pyloric ste... |
OMIM:235730 |
Hereditary Folate Malabsorption |
|
Glossitis, Cheilitis |
ORPHA:90045 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Gingival overgrowth |
ORPHA:508542 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Carious teeth, Calvarial osteosclerosis, Persistence of primary teeth |
ORPHA:93325 |
Sirenomelia |
|
Absence of the sacrum, Spina bifida, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia o... |
ORPHA:3169 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition |
ORPHA:2036 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
Tetraamelia Syndrome 1 |
|
Choanal atresia, Micrognathia, Cleft upper lip, Single naris, Cleft palate, Hypoplastic pelvis, L... |
OMIM:273395 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... |
ORPHA:99826 |
Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Finger syndactyly, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly, Ag... |
OMIM:181270 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Hand muscle weakness, Upper limb amyotro... |
ORPHA:466768 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Bifid uvula, Talipes equinovarus, Micrognathia |
OMIM:601374 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Syndactyly, Anteverted nares, Depressed nasal bridge, Postaxial polydactyly, Broad fi... |
OMIM:619534 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Long philtrum, Broad thumb |
ORPHA:2211 |
Arteriosclerosis, Severe Juvenile |
|
Hip dysplasia, Gastric ulcer, Short phalanx of finger, Dysplasia of second lumbar vertebra |
OMIM:208060 |
Grange Syndrome |
|
Finger clinodactyly, Syndactyly, Brachydactyly |
OMIM:602531 |
Bardet-Biedl Syndrome |
|
Finger syndactyly, Postaxial hand polydactyly |
ORPHA:110 |
Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Narrow mouth, Long philtrum |
ORPHA:1051 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Natal tooth, Micrognathia, Carious teeth, Downturned co... |
OMIM:620186 |
Juvenile Sialidosis Type 2 |
|
Gingival overgrowth, Protruding tongue |
ORPHA:93399 |
Fraser Syndrome |
|
Finger syndactyly, Anal stenosis, Toe syndactyly, Dental crowding, Cleft upper lip, Dental malocc... |
ORPHA:2052 |
Developmental And Epileptic Encephalopathy 31B |
|
Gingival overgrowth, Protruding tongue |
OMIM:620352 |
Bloom Syndrome |
|
Clinodactyly of the 5th finger, Syndactyly, Hand polydactyly, Agenesis of maxillary lateral incisor |
OMIM:210900 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Triphalangeal thumb, 2-4 finger syndactyly, 2-3 toe syndactyly, Metatarsal syno... |
OMIM:107480 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Rectal atresia, Cutaneous syndactyly, Narrow mouth, Anal atresia |
OMIM:617666 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Enamel hypoplasia |
ORPHA:79444 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Microtia-Anotia |
|
Anotia, Microtia |
OMIM:600674 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hematemesis, Esophageal varix, Neonatal death |
OMIM:263200 |
Cowden Syndrome |
|
Furrowed tongue, Hamartomatous polyposis, Macroglossia, Palmoplantar keratoderma, High palate, Co... |
ORPHA:201 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth |
OMIM:617799 |
Shwachman-Diamond Syndrome |
|
Delayed eruption of teeth, Sinusitis, Carious teeth, Oral ulcer, Steatorrhea, Fat malabsorption |
ORPHA:811 |
Adrenocortical Carcinoma |
|
Striae distensae |
ORPHA:1501 |
Hypermobile Ehlers-Danlos Syndrome |
|
Osteoarthritis, Abnormality of the gingiva, Gastrointestinal dysmotility, Anorectal anomaly, Ging... |
ORPHA:285 |
X-Linked Dystonia-Parkinsonism |
|
Protruding tongue |
ORPHA:53351 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Acne, Neoplasm of the stomach, Intra-oral hyperpigmentat... |
ORPHA:99889 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Tooth abscess, Malabsorption |
ORPHA:289176 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Short fourth metatarsal, Short fifth metatarsal,... |
OMIM:619841 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration |
ORPHA:340 |
Adnp Syndrome |
|
Advanced eruption of teeth, Thin upper lip vermilion, Thick lower lip vermilion, Smooth philtrum |
ORPHA:404448 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Dental crowding, Aganglionic megacolon, Abnormal palmar dermatoglyphics, Cleft upper ... |
OMIM:309800 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Neonatal death, Short nose, Thick vermilion border, Long philtrum |
OMIM:252160 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Carious teeth, Oral ulcer, Gingivitis, Enterocolitis, Ulcerative colitis, Inflammation of the lar... |
ORPHA:79259 |
Caroli Disease |
|
Pruritus, Cholangiocarcinoma, Esophageal varix |
ORPHA:53035 |
Currarino Syndrome |
|
Sacrococcygeal teratoma, Abnormal intestine morphology, Aplasia/Hypoplasia of the sacrum |
ORPHA:1552 |
Hereditary Hemorrhagic Telangiectasia |
|
Intestinal polyposis, Esophageal varix, Epistaxis, Gastrointestinal hemorrhage |
ORPHA:774 |
Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
Imerslund-Gräsbeck Syndrome |
|
Glossitis, Angular cheilitis |
ORPHA:35858 |
Progeroid Short Stature With Pigmented Nevi |
|
Irregular dentition, Thoracic scoliosis, Allergic rhinitis, Sensorineural hearing impairment, Hyp... |
OMIM:176690 |
Cockayne Syndrome A |
|
Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Dental malocclusion, Hyp... |
OMIM:216400 |
Cirrhosis, Familial |
|
Esophageal varix |
OMIM:215600 |
Congenital Tracheomalacia |
|
Esophageal atresia, Recurrent upper respiratory tract infections, Tracheoesophageal fistula, Cuti... |
ORPHA:95430 |
Generalized Pustular Psoriasis |
|
Geographic tongue, Cheilitis |
ORPHA:247353 |
Yellow Fever |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... |
ORPHA:99829 |
Angelman Syndrome |
|
Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue |
ORPHA:72 |
Carney Complex |
|
Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Neoplasm of the pharynx, Ab... |
ORPHA:1359 |
Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Enamel hypoplasia |
ORPHA:79443 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Submucous cleft hard palate |
OMIM:618891 |
Cockayne Syndrome B |
|
Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Dental malocclusion, Hyp... |
OMIM:133540 |
Mucoepithelial Dysplasia, Hereditary |
|
Erythematous oral mucosa, Furrowed tongue |
OMIM:158310 |
Fraser Syndrome 3 |
|
Short toe, Micrognathia, Cutaneous syndactyly |
OMIM:617667 |
Leiomyoma Of Vulva And Esophagus |
|
Esophageal obstruction |
OMIM:150700 |
Nelson Syndrome |
|
Abnormality of the sphenoid sinus, Striae distensae |
ORPHA:199244 |
Lysosomal Acid Lipase Deficiency |
|
Pruritus, Esophageal varix, Steatorrhea |
ORPHA:275761 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Submucous cleft hard palate, Abs... |
OMIM:157170 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Enamel hypoplasia, Palmoplantar keratoderma, Smooth tongue, Oral mucosal blisters |
ORPHA:79396 |
Igg4-Related Kidney Disease |
|
Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... |
ORPHA:449395 |
Barrett Esophagus |
|
Gastroesophageal reflux, Esophageal carcinoma, Barrett esophagus, Esophageal ulceration |
OMIM:614266 |
Giant Cell Arteritis |
|
Glossitis |
ORPHA:397 |
Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Craniofacial osteosclerosis, Carious teeth |
ORPHA:1328 |
Agel Amyloidosis |
|
Tongue atrophy, Xerostomia |
ORPHA:85448 |
Caroli Syndrome |
|
Cholangiocarcinoma, Pruritus, Hematemesis, Esophageal varix, Melena |
ORPHA:480520 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly |
OMIM:224120 |
Dyskeratosis Congenita, X-Linked |
|
Carious teeth, Esophageal stricture, Osteoporosis, Premature loss of teeth, Oral leukoplakia, Ana... |
OMIM:305000 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia, Clinodactyly of the 5th finger,... |
ORPHA:1587 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Premature loss of primary teeth |
ORPHA:667 |
Wiedemann-Rautenstrauch Syndrome |
|
Delayed eruption of teeth, Natal tooth, Micrognathia, Hypoplastic facial bones, Downturned corner... |
OMIM:264090 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Short nose, Thick vermilion border, Long philtrum |
OMIM:252150 |
Cardiac Diverticulum |
|
Umbilical hernia, Aplasia/Hypoplasia of the sternum |
ORPHA:1686 |
Penile Agenesis |
|
Posteriorly rotated ears, Depressed nasal bridge, Rectal fistula, Anorectal anomaly, Tracheoesoph... |
ORPHA:49 |
Heterotaxy, Visceral, 1, X-Linked |
|
Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Posteriorly placed anus, Myel... |
OMIM:306955 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Esophageal varix |
ORPHA:309854 |
Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Short denta... |
OMIM:182250 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Finger syndactyly, Micrognathia, 2-3 toe syndactyly, Talipes equinovarus, Clino... |
OMIM:620025 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Macroglossia, Open mouth, Abnormality of the temporomandibular joint, Protruding tongue |
ORPHA:258 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro... |
ORPHA:91500 |
Cockayne Syndrome |
|
Abnormal dental morphology, Delayed eruption of primary teeth, Carious teeth, Dental malocclusion... |
ORPHA:191 |
Lipodystrophy, Familial Partial, Type 7 |
|
Facial wrinkling, Narrow nasal ridge, Dysphagia, Low-set ears, Narrow mouth, Short nose, Dry skin... |
OMIM:606721 |
Senior-Boichis Syndrome |
|
Esophageal varix |
ORPHA:84081 |
Floating-Harbor Syndrome |
|
Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth, Celiac disease, Wide mout... |
ORPHA:2044 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Stomatitis, Glossitis, Smooth philtrum |
ORPHA:79282 |
Peroxisome Biogenesis Disorder 4B |
|
Short nose, Single transverse palmar crease, Sensorineural hearing impairment |
OMIM:614863 |
Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Macrodactyly, Abnormal dental enamel morphology, Metatarsus val... |
ORPHA:744 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Abnormal tongue morphology, Thick vermilion border, Ganglioneuromatosis |
ORPHA:653 |
Alström Syndrome |
|
Abnormality of dental color, Thoracic scoliosis, Kyphosis, Short toe, Recurrent upper respiratory... |
ORPHA:64 |
Cutis Laxa, Autosomal Dominant 1 |
|
Redundant skin, Cutis laxa, Hyperextensible skin, Long philtrum, Convex nasal ridge |
OMIM:123700 |
Glucagonoma |
|
Stomatitis, Intestinal obstruction, Glossitis, Steatorrhea |
ORPHA:97280 |
Bilateral Perisylvian Polymicrogyria |
|
Micrognathia, Protruding tongue |
ORPHA:98889 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Kawasaki Disease |
|
Glossitis, Cheilitis |
ORPHA:2331 |
Microsporidiosis |
|
Glossitis |
ORPHA:2552 |
Plague |
|
Chapped lip, Abnormality of the elbow, Enterocolitis, Inflammation of the large intestine, Glossitis |
ORPHA:707 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Supernumerary tooth, Ankyloglossia, Micrognathia |
OMIM:619525 |
Sotos Syndrome |
|
Aganglionic megacolon, Abnormality of the dentition, No permanent dentition, Delayed eruption of ... |
ORPHA:821 |
Choreoacanthocytosis |
|
Temporomandibular joint crepitus, Protruding tongue |
ORPHA:2388 |
Cleft Lip And Alveolus |
|
Lip pit, Abnormal nasal morphology, Hypodontia, Dysphagia, Abnormal nasal septum morphology |
ORPHA:141291 |