| Osteoarthritis Susceptibility 3 |
|
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... |
OMIM:607850 |
| Kienbock Disease |
|
Osteoarthritis, Limitation of joint mobility, Bone pain, Abnormality of the wrist, Avascular necr... |
ORPHA:97332 |
| Chondrocalcinosis 2 |
|
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis |
OMIM:118600 |
| Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
| Osteochondrosis Of The Tarsal Bone |
|
Abnormal tarsal ossification, Arthritis, Tarsal sclerosis, Tarsal stippling, Ankle pain, Chondrit... |
ORPHA:563991 |
| Chondrocalcinosis 1 |
|
Osteoarthritis, Chondrocalcinosis |
OMIM:600668 |
| Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr... |
OMIM:105835 |
| Slipped Femoral Capital Epiphyses |
|
Hip osteoarthritis, Proximal femoral epiphysiolysis |
OMIM:182260 |
| Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Calci... |
ORPHA:1416 |
| Peripheral Dysostosis |
|
Joint stiffness, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly... |
ORPHA:1795 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Increased inflammatory response, Protrusio acetabuli, Abnormal femoral head morpholog... |
ORPHA:2619 |
| Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Arthritis, Coxa valga |
OMIM:615612 |
| Beukes Hip Dysplasia |
|
Avascular necrosis of the capital femoral epiphysis, Flat capital femoral epiphysis, Osteoarthrit... |
OMIM:142669 |
| Osteoarthritis Susceptibility 1 |
|
Hip osteoarthritis |
OMIM:165720 |
| Familial Avascular Necrosis Of Femoral Head |
|
Hip osteoarthritis, Flattened femoral head, Limited hip movement, Abnormal femoral neck/head morp... |
ORPHA:86820 |
| Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
| Peripheral Dysostosis |
|
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
| Legg-Calvé-Perthes Disease |
|
Joint dislocation, Delayed skeletal maturation, Avascular necrosis, Cartilage destruction |
ORPHA:2380 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Osteoarthritis, Flattened metacarpal heads, Flattened metatarsal heads |
OMIM:271600 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
| Atelosteogenesis, Type Ii |
|
Death in infancy, Sandal gap, Depressed nasal bridge, Micromelia, Micrognathia, Bifid humerus, La... |
OMIM:256050 |
| Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Tibiofibular diastasis... |
ORPHA:566943 |
| Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Short thumb, Osteoarthritis, Brachydactyly |
ORPHA:435804 |
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Joint laxity, Osteoarthritis, Joint dislocation, Joint hypermobility |
OMIM:130020 |
| Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
| Diastrophic Dysplasia |
|
Proximal placement of thumb, Micromelia, Micrognathia, Symphalangism affecting the phalanges of t... |
ORPHA:628 |
| Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... |
ORPHA:50809 |
| Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... |
ORPHA:93296 |
| Glycoprotein Storage Disease |
|
Gout |
OMIM:232900 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness |
OMIM:604864 |
| Dysplasia Epiphysealis Hemimelica |
|
Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Accelerated skeletal ma... |
ORPHA:1822 |
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Arthropathy, Flattened metatarsal heads, Generalized morning stiffness, Coxa vara, Arthritis, Con... |
OMIM:208250 |
| Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Delayed skeletal maturation, Osteoarthritis, Generalized join... |
ORPHA:85198 |
| Cranio-Osteoarthropathy |
|
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Club... |
ORPHA:1525 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
| Raine Syndrome |
|
Mandibular prognathia, Micromelia, Micrognathia, Brachycephaly, Protruding ear, High palate, Choa... |
OMIM:259775 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Turricephaly, Micromelia, Craniosynostosis, Micrognathia, Split hand, Abnormal... |
ORPHA:2145 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Micromelia, Delayed epiphyseal ossification, Deep philtrum, Tachypnea, Death in childhood, Death ... |
OMIM:613320 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the knee, Abnormality of the epiphyses of the elbow, Abnormal patella morphology, ... |
ORPHA:166002 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Midface retrusion, Micromelia, Malar flattening, Depressed nasal ridge, Epiphyseal stippling, Sho... |
OMIM:118651 |
| Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Camptodactyly of finger, Micromelia, A... |
ORPHA:2635 |
| Epiphyseal Dysplasia, Multiple, 3 |
|
Abnormal hip joint morphology, Short metacarpal, Knee pain, Delayed epiphyseal ossification, Oste... |
OMIM:600969 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly |
OMIM:619248 |
| Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... |
OMIM:609655 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed skeletal maturation, Short 1st metacarpal, Joint hyperflexibility, Short middle phalanx o... |
ORPHA:63442 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short l... |
ORPHA:1423 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... |
OMIM:200600 |
| Marshall-Smith Syndrome |
|
Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue,... |
ORPHA:561 |
| Syngnathia |
|
Cleft palate |
OMIM:119550 |
| Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Frontal bossing, Depressed... |
ORPHA:166272 |
| Acrodysostosis |
|
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Depressed nasal r... |
ORPHA:950 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Short metacarpal, Joint stiffness, Avascular necrosis of the capital femoral epiphysis, Delayed e... |
OMIM:132400 |
| Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... |
ORPHA:750 |
| Epiphyseal Dysplasia, Multiple, 6 |
|
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... |
OMIM:614135 |
| Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Frontal bossing, Posteriorly rotated ears, Rhizomelia, Microme... |
ORPHA:93329 |
| Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue |
OMIM:618732 |
| Progressive Osseous Heteroplasia |
|
Osteoarthritis, Limitation of joint mobility, Bone pain, Ectopic ossification in muscle tissue, B... |
ORPHA:2762 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis |
ORPHA:2206 |
| Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormality of th... |
ORPHA:429 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Broad hallux, Accelerated skeletal maturation, Short thumb, Premature osteoarthritis, Hip osteoar... |
OMIM:165800 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... |
OMIM:311895 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Delayed ossification of carpa... |
OMIM:607078 |
| Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Calvarial skull defect, Abno... |
ORPHA:1426 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Deat... |
OMIM:184260 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Osteopenia, Mandibular prognathia, Proximal placement of thumb, Brachycephaly, Diastema, Gingival... |
OMIM:212066 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis, Micromelia |
ORPHA:93283 |
| Multiple Epiphyseal Dysplasia Type 5 |
|
Abnormal hip joint morphology, Osteoarthritis of the small joints of the hand, Decreased hip abdu... |
ORPHA:93311 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent... |
ORPHA:1350 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Micromelia, Severe limb shortening, Radial bowing, Rhizomelia, Depressed na... |
OMIM:151210 |
| Blomstrand Lethal Chondrodysplasia |
|
Micrognathia, Distal shortening of limbs, Short metacarpal, Increased bone mineral density, Rhizo... |
ORPHA:50945 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Abnormality of the knee, Broad radial metaphysis, Protrusio acetabuli, Broad fem... |
ORPHA:99642 |
| Chondrodysplasia, Blomstrand Type |
|
Depressed nasal bridge, Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones... |
OMIM:215045 |
| Ollier Disease |
|
Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... |
ORPHA:296 |
| Familial Digital Arthropathy-Brachydactyly |
|
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... |
ORPHA:85169 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Frontal bossing, Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Microm... |
ORPHA:440354 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Low-set, posteriorly rotated ears, Frontal bossing, Sandal gap, Arachnodactyly, Micromelia, Antev... |
ORPHA:1035 |
| Achondrogenesis Type 1A |
|
Short palm, Frontal bossing, Multiple rib fractures, Anteverted nares, Recurrent fractures, Micro... |
ORPHA:93299 |
| Ulnar Hemimelia |
|
Limited elbow movement, Osteoarthritis, Abnormal calcification of the carpal bones, Limited elbow... |
ORPHA:93320 |
| Paget Disease Of Bone 6 |
|
Osteoarthritis, Bone pain, Recurrent fractures |
OMIM:616833 |
| Achondrogenesis Type 1B |
|
Frontal bossing, Anteverted nares, Micromelia, Abnormal enchondral ossification, Micrognathia, Ab... |
ORPHA:93298 |
| Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
| Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... |
ORPHA:2496 |
| 17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Anteverted nares, Abnormality of the dentition, Micrognathia, High pa... |
ORPHA:217340 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Rocker bottom foot, Micrognathia, Paucity of anterior hor... |
OMIM:611890 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph... |
ORPHA:93351 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ... |
OMIM:156530 |
| Metaphyseal Acroscyphodysplasia |
|
Frontal bossing, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micro... |
ORPHA:1240 |
| Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Abnormal pinna morphology, Anteverted nares, Hearing impairme... |
OMIM:610253 |
| 3M Syndrome |
|
Congenital hip dislocation, Micromelia, Protruding ear, Clinodactyly of the 5th finger, Long phil... |
ORPHA:2616 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Frontal bossing, Rhizomelia, Anteverted nares, Micromelia, Abnormal thumb ... |
ORPHA:1842 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micromelia, Bowing of the legs, Micrognathia, Flexion contracture, Wide nasal bridge, Respiratory... |
ORPHA:1865 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Micromelia, Hypo... |
OMIM:617895 |
| Developmental And Epileptic Encephalopathy 80 |
|
Death in infancy, Optic disc pallor, Tented upper lip vermilion, Posteriorly rotated ears, Abnorm... |
OMIM:618580 |
| Distal Deletion 17Q |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, ... |
ORPHA:1597 |
| Metachondromatosis |
|
Abnormal joint morphology, Bowing of the long bones, Multiple enchondromatosis |
OMIM:156250 |
| Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Bowing of the long bones, Increased bone mineral density, Abnormal dental en... |
ORPHA:1798 |
| Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Co... |
ORPHA:87 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Abnormal hip joint morphology, Abnormality of tibial epiphyses, Abnormal acetabulum morphology, A... |
ORPHA:166011 |
| Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Mandibular prognathia, Posteriorly rotated ears, Joint hypermobility, Depressed nasal bridge, Tap... |
OMIM:617804 |
| Down Syndrome |
|
Depressed nasal ridge, Brachycephaly, Downturned corners of mouth, Conductive hearing impairment,... |
ORPHA:870 |
| Coxoauricular Syndrome |
|
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... |
ORPHA:1508 |
| Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Joint stiffness, Missing ribs, Microg... |
ORPHA:1801 |
| Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Hand oligodactyly, Cleft palate |
OMIM:172880 |
| Spondylosis, Cervical |
|
Osteoarthritis |
OMIM:184300 |
| Diastrophic Dysplasia |
|
Hip contracture, Costal cartilage calcification, Laryngotracheal stenosis, Flattened epiphysis, G... |
OMIM:222600 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Posteriorly rotated ears, Anteverted nares, Micrognathia, Dyspnea, Depresse... |
ORPHA:1832 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Capitate-hamate fusion, Osteoarthritis, Short metatarsal... |
OMIM:271650 |
| Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Anteverted nares, Protruding tongue, Sensorineural hearing impairment, Alveolar ridge overgrowth,... |
OMIM:612938 |
| Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Broad metacarpals, Hypo... |
ORPHA:56304 |
| Thanatophoric Dysplasia |
|
Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Hearing impairment, Micromelia, Joint ... |
ORPHA:2655 |
| Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Depressed nasal ridge, Triangular shaped distal pha... |
OMIM:271665 |
| Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Brachycephaly, Coxa vara, Gl... |
ORPHA:1452 |
| Greenberg Dysplasia |
|
Micromelia, Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variatio... |
OMIM:215140 |
| Glutamine Deficiency, Congenital |
|
Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, Micromelia, Apnea, Flexi... |
OMIM:610015 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Micromelia, Depressed nasal brid... |
ORPHA:2021 |
| Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, Enlarged ... |
OMIM:208230 |
| Ophthalmomandibulomelic Dysplasia |
|
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Limitation of joint mobility, Temp... |
ORPHA:2741 |
| Cenani-Lenz Syndrome |
|
Micromelia, High, narrow palate, Protruding ear, Foot oligodactyly, Short philtrum, Synostosis of... |
ORPHA:3258 |
| Pallister-Hall-Like Syndrome |
|
Death in infancy, Toe syndactyly, Median cleft lip, Depressed nasal bridge, Micromelia, Micrognat... |
OMIM:241800 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Posteriorly rotated ears, Micromelia, Micrognathia, Wide nasal bridge, ... |
OMIM:224410 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Micromelia, Bowing of the legs, Micrognathia, Metaphyseal widening, D... |
OMIM:255800 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Narrow mouth, Reduced bone mineral density, Abnormal pelvic gi... |
ORPHA:2370 |
| Image Syndrome |
|
Metaphyseal dysplasia, Frontal bossing, Depressed nasal bridge, Micromelia, Low-set ears |
ORPHA:85173 |
| Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Anteverted nares, Camptodactyly of finger, Pr... |
ORPHA:1488 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Decreased nerve conduction velocity, Furrowed tongue, Ulnar ... |
ORPHA:2928 |
| Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Sandal gap, Exaggerated cupid's bow, Anteverted nares, Depressed nasal ... |
OMIM:617752 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Flat occiput, Micrognathia, High, narrow palate, High palate, Death in childhood, Ulnar deviation... |
OMIM:214100 |
| Thanatophoric Dysplasia, Type Ii |
|
Frontal bossing, Cloverleaf skull, Small abnormally formed scapulae, Micromelia, Hypoplastic ilia... |
OMIM:187601 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Metaphyseal chondrodysplasia, Depressed nasal ridge, Brachycephaly, Tibial bowing, Sh... |
ORPHA:175 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Hearing impairment, Micrognathia, Capitate-hamate fusion, Short toe, Limited el... |
OMIM:614078 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Micrognathia, Brachycephaly, Downturned corners of mouth, High palate, Abnormal bone ossification... |
ORPHA:163649 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Brachydactyly |
OMIM:618618 |
| Achondrogenesis, Type Ib |
|
Micromelia, Hypoplastic ilia, Respiratory insufficiency, Stillbirth, Short ribs, Absent or minima... |
OMIM:600972 |
| Grant Syndrome |
|
Frontal bossing, Bowing of the long bones, Depressed nasal bridge, Micrognathia, Open bite, Abnor... |
ORPHA:2097 |
| Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Micromelia |
ORPHA:85175 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Osteoarthritis, Avascular necrosis, Joint stiffness |
ORPHA:1345 |
| C Syndrome |
|
Micromelia, Micrognathia, Clinodactyly, High palate, Dislocated radial head, Short metacarpal, An... |
OMIM:211750 |
| 2Q32Q33 Microdeletion Syndrome |
|
Broad hallux phalanx, Arachnodactyly, Dental crowding, Anteverted nares, Micrognathia, Prominent ... |
ORPHA:251019 |
| Ring Chromosome 22 Syndrome |
|
Protruding tongue, Bulbous nose, 2-3 toe syndactyly, Pleural effusion, Large hands, Thick vermili... |
ORPHA:1446 |
| Epiphyseal Dysplasia, Multiple, 2 |
|
Tibial torsion, Knee osteoarthritis, Flattened knee epiphyses, Short palm, Knee pain, Foot pain, ... |
OMIM:600204 |
| Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
| Pierpont Syndrome |
|
Brachycephaly, Large fleshy ears, Widely spaced teeth, Short palm, Prominent fingertip pads, Shor... |
OMIM:602342 |
| Congenital Atransferrinemia |
|
Arthritis |
ORPHA:1195 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Osteoarthritis |
ORPHA:66630 |
| Albers-Schönberg Osteopetrosis |
|
Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized oste... |
ORPHA:53 |
| Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hyperextensibility at wrists, Rec... |
OMIM:601492 |
| Microcephaly-Micromelia Syndrome |
|
Wide nose, Micromelia, Absent thumb, Absent radius, Craniosynostosis, Micrognathia, Humeroradial ... |
OMIM:251230 |
| Non-Distal Duplication 10Q |
|
Low-set, posteriorly rotated ears, Frontal bossing, Depressed nasal bridge, Micrognathia, Brachyc... |
ORPHA:1695 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Prominent nasal bridge, Protruding tongue, Abnorma... |
ORPHA:324410 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal widening, Limit... |
OMIM:224400 |
| Catel-Manzke Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Metatarsus valgus, Joint stiffness, M... |
ORPHA:1388 |
| Eiken Syndrome |
|
Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b... |
ORPHA:79106 |
| Pierpont Syndrome |
|
Joint laxity, Thin upper lip vermilion, Posteriorly rotated ears, Wide nasal ridge, Uplifted earl... |
ORPHA:487825 |
| Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Micromelia, Broad nasal tip, Non-midline cleft lip, Brachycephaly, Cleft... |
ORPHA:1784 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Conductive hearing impairment, La... |
ORPHA:2780 |
| Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Abnormal carp... |
ORPHA:85166 |
| Craniofrontonasal Dysplasia |
|
Depressed nasal ridge, Brachycephaly, Orofacial cleft, High palate, Clinodactyly of the 5th finge... |
ORPHA:1520 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Knee flexion contracture, High palate, Death in childhood, Clinodactyly of the 5th fi... |
OMIM:616809 |
| Muenke Syndrome |
|
Broad hallux, Hearing impairment, Capitate-hamate fusion, Sensorineural hearing impairment, Denta... |
OMIM:602849 |
| Jeune Syndrome |
|
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Abnormal rib morphology, Respiratory insu... |
ORPHA:474 |
| Achondrogenesis |
|
Frontal bossing, Anteverted nares, Micromelia, Abnormal enchondral ossification, Micrognathia, Ab... |
ORPHA:932 |
| 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 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Micrognathia, Multiple prenatal fractures, Beaded ribs, Flexion contracture, Brachyce... |
OMIM:616897 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... |
ORPHA:93284 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... |
ORPHA:3104 |
| Eng-Strom Syndrome |
|
Arthritis, Camptodactyly of finger, Brachydactyly |
ORPHA:1937 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint laxity, Microretrognathia, Midface retrusion, Frontal bossing, Anteverted nares, Monkey wre... |
OMIM:618870 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Mandibular prognathia, Anteverted nares, Tapered finger, Conductive hearing impairment, Sensorine... |
OMIM:618672 |
| Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Midface retrusion, Depressed ... |
OMIM:613849 |
| 4Q21 Microdeletion Syndrome |
|
Frontal bossing, Toe syndactyly, Depressed nasal bridge, Micromelia, Abnormality of the dentition... |
ORPHA:238750 |
| Acromicric Dysplasia |
|
Short metacarpal, Anteverted nares, Joint stiffness, Decreased nerve conduction velocity, Narrow ... |
ORPHA:969 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Respiratory distress, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowi... |
OMIM:613848 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Dental crowding, Micromelia, Underdeveloped nasal alae, Limited elbow extension... |
OMIM:180870 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... |
OMIM:608728 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Posteriorly rotated ears, Protruding tongue, Broad nasal tip, Submucous cleft ha... |
OMIM:618106 |
| Adenylosuccinate Lyase Deficiency |
|
Thin upper lip vermilion, Flat occiput, Anteverted nares, Brachycephaly, Low-set ears, Long philt... |
ORPHA:46 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Delayed skeletal maturation, Osteoarthritis, Ulnar bowing, Flared meta... |
OMIM:602111 |
| Kniest Dysplasia |
|
Respiratory distress, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal cartila... |
OMIM:156550 |
| Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Limb joint contracture, Micrognathia, Dolichocephaly, ... |
OMIM:618186 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Narrow nasal bridge, Brachydactyly, Flat occiput, Abnormal thumb morpholog... |
ORPHA:2511 |
| Ring Chromosome 8 Syndrome |
|
Frontal bossing, Anteverted nares, Deviation of finger, Round ear, Short nose, Abnormal palate mo... |
ORPHA:1450 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Abnormality of the philtrum, Arachnodactyly, Aplasia/Hypoplasia of the tong... |
ORPHA:2759 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Abnormal limb bone morphology,... |
ORPHA:85435 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal distal phalanx morphology of finger, Depressed nasal ... |
ORPHA:1387 |
| Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Abnorma... |
ORPHA:2639 |
| Thanatophoric Dysplasia Type 2 |
|
Frontal bossing, Brachydactyly, Cloverleaf skull, Depressed nasal bridge, Micromelia, Limitation ... |
ORPHA:93274 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Neonatal respiratory distress, Flat occiput, Anteverted nares, Depressed nasal bridge, Protruding... |
OMIM:618797 |
| Cornelia De Lange Syndrome 5 |
|
Toe syndactyly, Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Micrognath... |
OMIM:300882 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Flat occiput, Micrognathia, Brachycephaly, Downturned corners of mouth, High palate, Anteverted n... |
OMIM:613792 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridg... |
OMIM:313420 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Micrognathia, Antev... |
OMIM:615761 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Increased bone mineral density, Facial palsy, Craniosynostosis, Optic atrophy, Brachyc... |
ORPHA:178377 |
| Hypophosphatasia, Infantile |
|
Death in infancy, Apnea, Micromelia, Abnormality of the dentition, Bowing of the legs, Craniosyno... |
OMIM:241500 |
| Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Turricephaly, Arachnodactyly, Camptodactyly o... |
ORPHA:83 |
| 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 |
| Thanatophoric Dysplasia Type 1 |
|
Frontal bossing, Bowing of the long bones, Short femur, Depressed nasal bridge, Cloverleaf skull,... |
ORPHA:1860 |
| Vertical Talus, Congenital |
|
Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus |
OMIM:192950 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Absent frontal sinuses, Widely-spaced maxillary central incisors, Antevert... |
OMIM:301040 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Brachydactyly, Brachycephaly, Metacarpal synostosis, Midface retrusion, Hearing impairment |
ORPHA:35099 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Camptodactyly of finger, Facial palsy, Abnormal motor nerve conduction velo... |
OMIM:614399 |
| Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Posteriorly rotated ears, Micrognathia, Underdeveloped nasal alae, W... |
OMIM:263210 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Tibial bowing, Femoral bowing, Short lower limbs, Metaphy... |
ORPHA:93356 |
| Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Limitation of joint mobility, Coxa vara, Flared, irregular rib ends, Short palm |
ORPHA:168555 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Anteverted nares, Depressed nasal bridge, Pneumonia, Malabsorption, Micrognathia, Prot... |
OMIM:242860 |
| Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Brachycephaly, Triphalangeal thumb, Conductive hearing impairment, Cli... |
ORPHA:794 |
| Gorham-Stout Disease |
|
Osteopenia, Abnormality of the temporomandibular joint, Abnormal occipital bone morphology, Osteo... |
ORPHA:73 |
| Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,... |
ORPHA:439822 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Prominent nasal tip, Anteverted nares, Depressed nasal bridge, Micrognathia, Deep philtrum, Wide ... |
OMIM:615834 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Frontal bossing, Rhizomelia, Metaphyseal cupping of proximal phalanges, Depress... |
OMIM:300863 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Attached earlobe, Mandibular prognathia, Brachycephaly, Downturned corners of mouth, High palate,... |
ORPHA:1327 |
| Acrocephalopolydactyly |
|
Oxycephaly, Depressed nasal ridge, Short long bone, Microtia, Limb undergrowth, Short nose, Brach... |
ORPHA:221054 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Osteoarthritis, Abnormal metacarpal morphology |
ORPHA:166100 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Wide nose, Protruding tongue, Micrognathia, Neonatal asphyxia, Sensorineural he... |
OMIM:608779 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Respiratory failure, Tongue fasciculations, Death in childhood, Joint ... |
OMIM:616081 |
| 9q subtelomeric deletion syndrome |
|
Protruding tongue |
DECIPHER:52 |
| Pseudoachondroplasia |
|
Limited hip extension, Genu recurvatum, Delayed epiphyseal ossification, Osteoarthritis, Metaphys... |
OMIM:177170 |
| Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Micrognathia, Prominent nose, Long nose, Abnormal finger morphology, Shor... |
ORPHA:2636 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Tarsal synostosis, Camptodactyly of finger, Micro... |
ORPHA:2633 |
| Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Limitation of joint mobili... |
ORPHA:231 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal metacarpophalangeal joint morphology, Ankle swelling, Abnormal metatarsal morphology, Jo... |
ORPHA:85408 |
| Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Frontal bossing, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Posterio... |
OMIM:600325 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Tapered f... |
OMIM:218000 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Short lingual frenulum, Postaxial pol... |
OMIM:614091 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Joint laxity, Respiratory failure, Tongue fasciculations, Hypoplasia of the capital femoral epiph... |
OMIM:600561 |
| Hemophilia A |
|
Osteoarthritis, Joint hemorrhage |
OMIM:306700 |
| 14Q11.2 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Toe syndactyly, Exaggerated cupid's bow, Depressed nasal bridg... |
ORPHA:261120 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Macrodontia, Small hand, Short foot, Short 5th finger, High palate, Clinodactyly, Short nose |
OMIM:300577 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Epiphyseal dysplasia, Enlarged epiphyses, Anteverted nares, Depressed nasal bridge, Sensorineural... |
OMIM:184840 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Cone-s... |
ORPHA:63446 |
| Desmosterolosis |
|
Low-set, posteriorly rotated ears, Frontal bossing, Increased bone mineral density, Depressed nas... |
ORPHA:35107 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Frontal bossing, Turricephaly, Choanal atresia, Hypoplasia of the maxilla, Optic atrophy, Brachyc... |
ORPHA:93262 |
| Kyphomelic Dysplasia |
|
Micromelia, Micrognathia, Tibial bowing, Femoral bowing, Short metacarpal, Radial bowing, Depress... |
OMIM:211350 |
| Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, Metaphyse... |
OMIM:618961 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Osteopenia, Hip contracture, Thin upper lip vermilion, Frontal bossing, Posteriorly rotated ears,... |
OMIM:616801 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Overfolded ... |
ORPHA:2631 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Frontal bossing, Bulging epiphyses, Thin bony cortex, Flat occiput, Re... |
OMIM:277440 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Small ... |
ORPHA:3121 |
| Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Frontal bossing, Broad long bones, Short... |
OMIM:200610 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Prominent nose, Underdeveloped nasal alae, Tracheal stenosis, Sensorineural hearing i... |
ORPHA:2637 |
| Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depress... |
ORPHA:93258 |
| Gm1-Gangliosidosis, Type Ii |
|
Protruding tongue, Coxa valga, Joint stiffness, Optic atrophy, Gingival overgrowth, Hypoplastic v... |
OMIM:230600 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Recurrent fractures, Micromelia, Abnormal rib morphology, Join... |
ORPHA:2772 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Micrognathia, Short nose, Unilambdoid synostosis, Wide nasal bridge, Brachyceph... |
OMIM:618577 |
| Hydrolethalus |
|
Low-set, posteriorly rotated ears, Tracheal atresia, Micromelia, Micrognathia, Postaxial hand pol... |
ORPHA:2189 |
| Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening,... |
OMIM:251450 |
| Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Choanal atresia, Hypoplasia of the maxilla, Optic atrophy, Brachyc... |
ORPHA:207 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Clinodactyly, Brachycephaly, Downturned corners of mouth, High palate, Wid... |
ORPHA:369891 |
| Otopalatodigital Syndrome Type 1 |
|
Proximal placement of thumb, Oligodontia, Short palm, Abnormal vertebral segmentation and fusion,... |
ORPHA:90650 |
| Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Turricephaly, Underdeveloped nasal alae, Parietal foramina, Wide... |
OMIM:601224 |
| Lujan-Fryns Syndrome |
|
Dental crowding, Arachnodactyly, Camptodactyly of finger, Abnormality of the dentition, Micrognat... |
ORPHA:776 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Rocker bottom foot, Posteriorly rotated ears, Anteverted nares, Trigonoc... |
OMIM:618506 |
| Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... |
ORPHA:2753 |
| Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Trigonocephaly, Wide nasal bridge, Orofacial cleft, EEG abnormality, Respirat... |
OMIM:618804 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Micrognathia, Clef... |
ORPHA:2015 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Accelerated skeletal maturation, Abnormal hand morphology, Metaphyseal widening, Flexion contract... |
ORPHA:93307 |
| Larsen-Like Syndrome |
|
Joint laxity, Frontal bossing, Conductive hearing impairment, Wide anterior fontanel, Dental malo... |
OMIM:608545 |
| Hyperekplexia 4 |
|
Flexion contracture, Hypsarrhythmia, Respiratory failure, Distal arthrogryposis, High palate, Tal... |
OMIM:618011 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
| Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hyp... |
OMIM:228520 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Frontal bossing, Posteriorly rotated ears, Anteverted nares, Hearing im... |
OMIM:613604 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... |
ORPHA:2098 |
| Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
| Cornelia De Lange Syndrome 2 |
|
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, ... |
OMIM:300590 |
| Cornelia De Lange Syndrome 1 |
|
Proximal placement of thumb, Micromelia, Micrognathia, High, narrow palate, Brachycephaly, Downtu... |
OMIM:122470 |
| Potocki-Shaffer Syndrome |
|
Prominent nasal bridge, Broad nasal tip, Micrognathia, Underdeveloped nasal alae, Parietal forami... |
ORPHA:52022 |
| Hemophilia B |
|
Osteoarthritis, Joint hemorrhage |
OMIM:306900 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Frontal bossing, Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Depressed na... |
OMIM:215100 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Osteoarthritis, Bronchiectasis, Joint hypermobility |
OMIM:620080 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros... |
OMIM:616331 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Posteriorly rotated ears, Rocker bottom foot, Micrognathia, Wide nasal bridge, ... |
OMIM:618393 |
| Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Intestinal... |
OMIM:300963 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Postaxial polydactyly, Micromeli... |
OMIM:617866 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
| Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Micrognathia, Calcaneovalgus deformity, Flexion contracture, Brachycephaly, High palate, Ulnar de... |
ORPHA:562528 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, Thin upper lip vermilion, 11 pairs of ribs, Sandal gap, Dental crowding, Posteriorly ... |
OMIM:617877 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Choanal atresia, Micrognathia, Metaphyseal... |
OMIM:156400 |
| Phocomelia, Schinzel Type |
|
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Protruding ear, Foot ol... |
ORPHA:2879 |
| Campomelia, Cumming Type |
|
Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Abnormal r... |
ORPHA:1318 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Joint laxity, Frontal bossing, Arachnodactyly, Dental crowding, Narrow mouth, Brachycephaly, Prot... |
OMIM:615539 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Death in infancy, Frontal bossing, Rhizomelia, Micrognathia, Metaphyseal chondrodyspl... |
ORPHA:163966 |
| Vitamin K Antagonist Embryofetopathy |
|
Anteverted nares, Depressed nasal bridge, Hearing impairment, Choanal atresia, Optic atrophy, Res... |
ORPHA:1914 |
| Even-Plus Syndrome |
|
Epiphyseal dysplasia, Bifid nasal tip, Depressed nasal ridge, Brachycephaly, Microtia, High palat... |
OMIM:616854 |
| Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis, Abnormal diaphysis morphology, Abnormal... |
ORPHA:1657 |
| 3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Proximal placement of thumb, Micrognathia, Prominent nose, High, narrow pa... |
ORPHA:435638 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Infl... |
OMIM:106300 |
| Chung-Jansen Syndrome |
|
Anteverted nares, Tapered finger, Micrognathia, Large earlobe, Hip dysplasia, Thin vermilion bord... |
OMIM:617991 |
| Congenital Disorder Of Glycosylation, Type Iiy |
|
Brachycephaly, Hip subluxation, Reduced bone mineral density |
OMIM:620200 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Vertebral hypoplasi... |
OMIM:602557 |
| Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, High, narrow palate, Brachycephaly, Anteriorly placed anus, ... |
OMIM:612289 |
| Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Abn... |
OMIM:179613 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Flexion contracture, Brachycephaly, Femoral bowing, Choanal stenosis, Arachnodactyly, Depressed n... |
OMIM:207410 |
| Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Sensorineural hearing impairment, Flexion contracture, Hip dysplasia, Short ... |
OMIM:618379 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Congenital hip dislocation, Femur fracture, Abnormal pinna morphology, Ulnar devia... |
OMIM:618291 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Thin upper lip vermilion, Flat occiput, Overlapping toe, Down-sloping shoulders, Abnormal pinna m... |
OMIM:617452 |
| Schwartz-Jampel Syndrome |
|
Apnea, Micromelia, Micrognathia, Coxa vara, High palate, Wrist flexion contracture, Low-set, post... |
ORPHA:800 |
| Edinburgh Malformation Syndrome |
|
Frontal bossing, Anteverted nares, Choanal atresia, Joint stiffness, Micrognathia, Long fingers, ... |
ORPHA:1895 |
| Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, High palate, Abnormality of... |
ORPHA:861 |
| Muenke Syndrome |
|
Tarsal synostosis, High, narrow palate, Sensorineural hearing impairment, Brachycephaly, Cone-sha... |
ORPHA:53271 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm... |
OMIM:300244 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Death in infancy, Camptodactyly of finger, Micrognathia, Recurrent pneumonia, Optic atrophy, Prot... |
ORPHA:1495 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... |
ORPHA:1422 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
| Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury... |
OMIM:608654 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Thin upper lip vermilion, Slender nose, Micrognathia, ... |
OMIM:615419 |
| Joubert Syndrome 1 |
|
Central apnea, Optic disc pallor, Anteverted nares, Episodic tachypnea, Protruding tongue, Postax... |
OMIM:213300 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Microretrognathia, Hip contracture, Mandibular prognathia, Hearing impairment, Coxa valga, Cariou... |
OMIM:618363 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Bone pain, Ricket... |
OMIM:307800 |
| Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
| Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Brach... |
OMIM:201000 |
| Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplasia, Short metaca... |
OMIM:108720 |
| Sweeney-Cox Syndrome |
|
Flat occiput, Uplifted earlobe, Micrognathia, Brachycephaly, High palate, Short philtrum, 2-5 toe... |
OMIM:617746 |
| Endocrine-Cerebroosteodysplasia |
|
Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, Thick upper lip vermilion, Median ... |
OMIM:612651 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Conjunctivitis |
OMIM:617772 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Joint laxity, Mandibular prognathia, Midface retrusion, Frontal bossing, Arachnodactyly, Postaxia... |
OMIM:619721 |
| German Syndrome |
|
Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Hearing abnormality, Limitation of... |
ORPHA:2077 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Snail-like ilia, Flat acet... |
OMIM:269250 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo... |
ORPHA:93346 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi... |
ORPHA:2019 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Small earlobe, Severe periodontitis, Overlapping toe, Depressed nasal brid... |
ORPHA:99843 |
| Aase-Smith Syndrome |
|
Multiple joint contractures, Abnormal pinna morphology, Camptodactyly of finger, Joint stiffness,... |
ORPHA:916 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Aplasia/Hypoplasi... |
ORPHA:141152 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Arthritis, Limitation of joint mobility |
ORPHA:2582 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Joint laxity, Abnormal metatarsal morphology, Hip subluxation, Flat capital femoral epiphysis, De... |
ORPHA:93360 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micrognathia, Preaxial polydactyly, Brachycephaly, Narrow greater sciatic notch, Absent nasal bri... |
OMIM:617925 |
| Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1248 |
| Radio-Renal Syndrome |
|
Respiratory distress, Depressed nasal bridge, Micromelia, Micrognathia, High, narrow palate, Dysp... |
ORPHA:3015 |
| Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Underfolded helix, Thick lower lip vermilion, Dental ... |
ORPHA:2563 |
| Gómez-López-Hernández Syndrome |
|
Turricephaly, Anteverted nares, Brachycephaly, Thin vermilion border, Low-set ears, Midface retru... |
ORPHA:1532 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Convex nasal ridge, Abnorm... |
ORPHA:1277 |
| 8Q12 Microduplication Syndrome |
|
Narrow mouth, Sensorineural hearing impairment, Wide nasal bridge, Brachycephaly, Short foot, Eve... |
ORPHA:228399 |
| Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Dental malocclusion, Large earlobe, Short columella, Short nose, Short di... |
OMIM:155050 |
| 17P13.3 Microduplication Syndrome |
|
Frontal bossing, Wide nose, Congenital hip dislocation, High palate, Low-set ears, Narrow mouth, ... |
ORPHA:217385 |
| Cebalid Syndrome |
|
Turricephaly, Posteriorly rotated ears, Abnormal pinna morphology, Anteverted nares, Depressed na... |
OMIM:618774 |
| Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone m... |
ORPHA:1427 |
| Congenital Myopathy 14 |
|
Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... |
OMIM:618414 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Depressed nasal bridge, Broad na... |
OMIM:619736 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Femoral bowing, Short metacarpal... |
OMIM:616723 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Thin upper lip vermilion, Abnormal pinna morphology, Tapered finger, Wide nasal bridge, Brachycep... |
ORPHA:352530 |
| Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... |
OMIM:249710 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Split hand, Wide nasal bridge, Respiratory insufficiency, Respiratory failure, Low-set ear... |
OMIM:610127 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Sensorineural h... |
ORPHA:79107 |
| Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short femur, Micrognathia, Abnormal rib morphology, Rib fusion, Abnorma... |
ORPHA:1988 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Brachycephaly, Hypoplasia of... |
OMIM:257850 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Mandibular... |
ORPHA:1908 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Anterior uveitis, Abnormal meta... |
ORPHA:85438 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
| Stickler Syndrome Type 1 |
|
Joint hyperflexibility, Osteoarthritis |
ORPHA:90653 |
| Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, Elbow contr... |
OMIM:617201 |
| Osteoglophonic Dysplasia |
|
Osteopenia, Mandibular prognathia, Respiratory distress, Hypoplasia of the maxilla, Short metatar... |
OMIM:166250 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, H... |
ORPHA:2249 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Depressed nasal bridge, Postax... |
OMIM:617102 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Micrognathia, Clinodactyly, Prominent fingertip pads, Broad hallux, Cleft soft palate, Anteverted... |
OMIM:618529 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... |
ORPHA:2347 |
| Fibrochondrogenesis 2 |
|
Frontal bossing, Anteverted nares, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widen... |
OMIM:614524 |
| Distal Deletion 10Q |
|
Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Short metatarsal, Brachycephaly, Prot... |
ORPHA:96148 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
| 2q33.1 deletion syndrome |
|
High palate, Cleft palate |
DECIPHER:51 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Broad hallux, Anteverted nares, Protruding tongue, Micrognathia, Cupped... |
OMIM:617062 |
| Multicentric Reticulohistiocytosis |
|
Arthritis |
ORPHA:139436 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Thin upper lip vermilion, Toe syndactyly, Arachnodactyly... |
ORPHA:505237 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Flat occiput, Anteverted nares, Protruding tongue, Brachycephaly, Downturned corners of mouth, Ma... |
ORPHA:96147 |
| Pseudodiastrophic Dysplasia |
|
Frontal bossing, Rhizomelia, Phalangeal dislocation, Anteverted nares, Micrognathia, Hypoplasia o... |
OMIM:264180 |
| Autosomal Dominant Robinow Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned ... |
ORPHA:3107 |
| Smith-Magenis Syndrome |
|
Mandibular prognathia, Everted upper lip vermilion, Hearing impairment, Abnormality of the dentit... |
OMIM:182290 |
| Auriculocondylar Syndrome 2A |
|
Overfolding of the superior helices, Respiratory distress, Dental crowding, Posteriorly rotated e... |
OMIM:614669 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Micrognathia, Flexion contracture, Hip dislocation, Elbow flexion contracture, Hyperext... |
ORPHA:75840 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Respiratory distress, Apnea, Micromelia, Metaphyseal widening, Flexion contracture, K... |
ORPHA:3206 |
| Gomez-Lopez-Hernandez Syndrome |
|
Turricephaly, Posteriorly rotated ears, Anteverted nares, Craniosynostosis, Wide anterior fontane... |
OMIM:601853 |
| Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Brachycephaly,... |
OMIM:234100 |
| Achondroplasia |
|
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Neonatal respiratory distress, Depressed nasal bridge, Thickened helices, Prominent nasal bridge,... |
OMIM:618828 |
| Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo... |
ORPHA:1458 |
| Bullous Impetigo |
|
Pustule, Septic arthritis, Recurrent bacterial skin infections |
ORPHA:36237 |
| Stevenson-Carey Syndrome |
|
Posteriorly rotated ears, Anteverted nares, Central hypoventilation, Underdeveloped nasal alae, P... |
OMIM:611961 |
| Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Brachycephaly, Short philtrum, C... |
ORPHA:819 |
| Psoriasis 1, Susceptibility To |
|
Arthritis, Psoriasiform dermatitis |
OMIM:177900 |
| Stuve-Wiedemann Syndrome 1 |
|
Apnea, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contracture, Smooth tongue, Shor... |
OMIM:601559 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Increased inflammatory response, Pericarditis, Camptodactyly of finger, Wrist swelling, Polyartic... |
ORPHA:2848 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Sandal gap, Posteriorly ro... |
OMIM:618430 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Frontal bossing, Bulging epiphyses, Thin bony cortex, Flat occiput, Recurrent fractures, Bowing o... |
OMIM:600081 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Death in infancy, Crumpled long bones, Multiple rib fractures, Rhizomelia, Protrusio ... |
OMIM:610682 |
| Chromosome 5P13 Duplication Syndrome |
|
Frontal bossing, Turricephaly, Posteriorly rotated ears, Craniosynostosis, Long fingers, Bulbous ... |
OMIM:613174 |
| Neu-Laxova Syndrome |
|
Osteopenia, Abnormality of the philtrum, Osteomalacia, Micromelia, Micrognathia, Trismus, Submuco... |
ORPHA:2671 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hypoplasia of the ca... |
OMIM:215150 |
| Contractural Arachnodactyly, Congenital |
|
Osteopenia, Micrognathia, Brachycephaly, Knee flexion contracture, High palate, Wrist flexion con... |
OMIM:121050 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Absent tragus, Micrognathia, Preaxial hand polydactyly, Hypoplasia of th... |
ORPHA:79113 |
| Distal Duplication 18Q |
|
Low-set, posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Abnormal dental morph... |
ORPHA:1716 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Frontal bossing, Bulging epiphyses, Thin bony cortex, Flat occiput, Re... |
OMIM:264700 |
| Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Joint laxity, Hip contracture, Overlapping toe, Anteverted nares, Depressed nasal bridge, Trigono... |
OMIM:617301 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Hip contracture, Radial deviation of the hand, Posteriorly rotated ears, Rocke... |
OMIM:301041 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Frontal bossing, Depressed nasal bridge, Bulbous nose, Brachycephaly, Wide mouth, Macroglossia, P... |
OMIM:616789 |
| Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Abnormal t... |
ORPHA:666 |
| 49,Xxxxy Syndrome |
|
Mandibular prognathia, Pulmonary embolism, Depressed nasal ridge, Brachycephaly, Clinodactyly of ... |
ORPHA:96264 |
| Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Midface retrusion, Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosy... |
ORPHA:1790 |
| Laron Syndrome |
|
Delayed skeletal maturation, Osteoarthritis, Short toe, Abnormality of the elbow, Brachydactyly |
ORPHA:633 |
| Degcags Syndrome |
|
Osteopenia, Micrognathia, Prominent nose, High palate, Syndactyly, Anteverted nares, Hiatus herni... |
OMIM:619488 |
| Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Optic atrophy, Reduced bone mineral density,... |
ORPHA:1185 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Brachycephaly, Coxa vara, Clinodactyly of the 5th finger, Syndactyly, Anteverted nares, 2-3 toe s... |
OMIM:614701 |
| Osseous Heteroplasia, Progressive |
|
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue |
OMIM:166350 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Postaxial polydactyly, Microg... |
ORPHA:404440 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Frontal bossing, Respiratory distress, Short femur, Anteverted nares, Metaphyseal spu... |
OMIM:618188 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Respiratory failure requiring assisted ventilati... |
ORPHA:1675 |
| Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Cu... |
OMIM:101200 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,... |
ORPHA:457395 |
| Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foo... |
OMIM:206920 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Clino... |
ORPHA:2554 |
| Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Long nose, Brachycephaly, Partial duplication of the distal phalanx of... |
OMIM:101400 |
| Angelman Syndrome |
|
Mandibular prognathia, Flat occiput, Protruding tongue, Hypoplasia of the maxilla, Brachycephaly,... |
OMIM:105830 |
| Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Joint stiffness, Hearing abnormality, Cleft palate, Reduced bone miner... |
ORPHA:577 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contracture, Hypop... |
OMIM:611717 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Broad nasal tip, Flexion contracture, Abnormality of the ear, Recurrent up... |
ORPHA:391372 |
| Acromicric Dysplasia |
|
Short metacarpal, Anteverted nares, Narrow mouth, Deep philtrum, Thick lower lip vermilion, Bulbo... |
OMIM:102370 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Depressed nasal bridge, Postaxial polydactyly, Micrognathia, Preaxial polydactyl... |
OMIM:618142 |
| Marshall Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Brachycephaly, High palate, Thick upper ... |
ORPHA:560 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, EEG with burst suppression, Split hand, Wide nasal bridge, ... |
ORPHA:168486 |
| Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Bone pain, Arthritis, Ectopic ossification in mu... |
ORPHA:2485 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Brachycephaly, Metatar... |
OMIM:259600 |
| 48,Xxxy Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Down-sloping shoulders, Abnormal dental enamel ... |
ORPHA:96263 |
| Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Depressed nasal bridge, Protruding tongue, Micrognathia, Broad nasal ... |
OMIM:619777 |
| Congenital Sialidosis Type 2 |
|
Protruding tongue, Optic atrophy, Gingival overgrowth, Polydactyly, Low-set ears, Hearing impairment |
ORPHA:93400 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Premature loss of primary teeth, Promi... |
OMIM:617364 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Posteriorly rotated ears, Broad proximal phalanges of the hand, Choanal atresia,... |
OMIM:607597 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Frontal bossing, Tented upper lip vermilion, Anteverted nares, Rocker bottom f... |
OMIM:619762 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Multiple joint contractures, Facial palsy, Abnormality of the tongue muscle, Hip dislocation, Res... |
ORPHA:370968 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Craniosynostosis... |
OMIM:614732 |
| Martsolf Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Brachycephaly, High palate, Short p... |
OMIM:212720 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Micrognathia, Brachycephaly, Shoulder dislocation, Microdontia, Prominent antitragus,... |
OMIM:245600 |
| Peho-Like Syndrome |
|
Tapered finger, Optic atrophy, Hypsarrhythmia, Open mouth, Retrognathia, Short nose |
OMIM:617507 |
| Trisomy 20P |
|
Micrognathia, Brachycephaly, Reduced bone mineral density, Protruding ear, Downturned corners of ... |
ORPHA:261318 |
| Whistling Face Syndrome, Recessive Form |
|
Shoulder flexion contracture, Prominent nasal bridge, Micrognathia, Underdeveloped nasal alae, Wh... |
OMIM:277720 |
| Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia, Scaphocephaly, Small hand, Brach... |
ORPHA:459061 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Elbow flexion contracture, Sterile arthritis, Knee flexion contracture, Arthritis, Colitis,... |
OMIM:604416 |
| Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Frontal bossing, Anteverted nares, Camptodactyly of finger, Pr... |
ORPHA:1703 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia... |
OMIM:616300 |
| Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Aplasia/hypoplasia of the e... |
ORPHA:485 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Protruding tongue, Recurrent pneumonia, Wide nasal bridge, Gingival overg... |
OMIM:619179 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Missing ribs, Esophageal atresia, Trac... |
OMIM:619859 |
| Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Respiratory distress, Micromelia, EEG abnormality, Long philtrum, Short nose, A... |
ORPHA:50810 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors, High palate, ... |
OMIM:309580 |
| Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Hypoplasi... |
ORPHA:1529 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal... |
OMIM:101800 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Flat occiput, Micrognathia, Brachycephaly, Protruding ear, High palate, Short palm, S... |
OMIM:249420 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Frontal bossing, Depressed nasal bridge, Optic atrophy, Wide nasal bridge, Brachycephaly, Bilater... |
OMIM:264470 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... |
OMIM:250460 |
| Hamamy Syndrome |
|
Osteopenia, Micrognathia, Brachycephaly, High palate, Clinodactyly of the 5th finger, Long toe, S... |
OMIM:611174 |
| Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Dental crowding, Knee flexion contracture, High palate, Spina bifida occul... |
OMIM:193700 |
| Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... |
OMIM:271530 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Proximal placement of thumb, Brachycephaly, Plagiocephaly, High palate, Short philtrum, Low-set e... |
OMIM:615433 |
| Pontocerebellar Hypoplasia, Type 3 |
|
Optic disc pallor, Depressed nasal bridge, High, narrow palate, Optic atrophy, Brachycephaly, Dow... |
OMIM:608027 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Deviation of the thumb, High palate, Finger syndactyly, Broad hallux phalan... |
ORPHA:93259 |
| 9P13 Microdeletion Syndrome |
|
Microretrognathia, Anteverted nares, Joint stiffness, Abnormality of cartilage of external ear, W... |
ORPHA:324313 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Abnormality of the ... |
OMIM:615398 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Abnormal dental morphology, Camptodactyly of finger, Micromelia, Malabsorption, Osteo... |
ORPHA:2176 |
| Short Stature, Brussels Type |
|
Microretrognathia, Delayed epiphyseal ossification, Calcification of cartilage |
ORPHA:2867 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Broad nasal tip, 2-3 toe syndactyly, Brachyce... |
ORPHA:3306 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
| Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Limited elbow movement, Limited w... |
OMIM:617809 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Anteverted nares, Depressed nasal bridge, Wide nose, B... |
OMIM:600430 |
| Stickler Syndrome, Type Ii |
|
Arachnodactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, Long fingers, High, narro... |
OMIM:604841 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Micrognathia, Prominent nose, Depressed nasal ridge, Brachycephaly, Protru... |
OMIM:156200 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, High, narrow pal... |
OMIM:309583 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Flat occiput, Arachnodactyly, Micrognathia, High, narrow palate, Dyspnea, O... |
ORPHA:2707 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
High, narrow palate, Calcaneovalgus deformity, Brachycephaly, High palate, Arachnodactyly, Depres... |
OMIM:612513 |
| Orofaciodigital Syndrome Xix |
|
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ... |
OMIM:620107 |
| Monosomy 18P |
|
Micrognathia, Carious teeth, Wide nasal bridge, Cleft palate, Protruding ear, Downturned corners ... |
ORPHA:1598 |
| Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... |
OMIM:612961 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Mandibular prognathia, Limitation of movement at ankles, Flat occiput, Protruding tongue, EEG wit... |
ORPHA:98794 |
| Mosaic Trisomy 9 |
|
Camptodactyly of finger, Rocker bottom foot, Intestinal malrotation, Micromelia, Micrognathia, Bu... |
ORPHA:99776 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Depressed nasal bridge, Craniosynostosis, Pyloric sten... |
ORPHA:314575 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Flat occiput, Dental crowding, Convex nasal ridge, Micrognathia, Generalized joint la... |
ORPHA:251028 |
| Opsismodysplasia |
|
Frontal bossing, Abnormally ossified vertebrae, Flat occiput, Depressed nasal bridge, Tapered fin... |
ORPHA:2746 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Coxa valga, Pierre-Robin sequence, Advanced ossification of carpal bones, Cleft pal... |
OMIM:620269 |
| Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg... |
ORPHA:90652 |
| Al Kaissi Syndrome |
|
Thin upper lip vermilion, Macrodontia, Posteriorly rotated ears, Abnormal pinna morphology, Depre... |
OMIM:617694 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Micrognathia, Glossoptosis, High palate, Conductive hearing impairment, Rhizomelia, A... |
OMIM:611209 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:98795 |
| Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Tongue fasciculations, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Anteriorly placed anus, Downturned corners of ... |
OMIM:239300 |
| Hemochromatosis, Type 4 |
|
Osteoarthritis |
OMIM:606069 |
| Icf Syndrome |
|
Depressed nasal bridge, Malabsorption, Micrognathia, Protruding tongue, Macroglossia, Low-set ears |
ORPHA:2268 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Frontal bossing, Bulging epiphyses, Thin bony cortex, Flat occiput, Recurrent fractures, Bowing o... |
OMIM:241530 |
| Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Underfolded helix, Thick lower lip vermilion, Dental ... |
OMIM:157980 |
| Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Osteopenia, Bowing of the long bones, Microretrognathia, Rhizomelia, Recurrent... |
OMIM:616229 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Sandal gap, Broad hallux, Micromelia, Optic atrophy, Brachycephaly, Thin vermilion bo... |
OMIM:614800 |
| Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Wide nose, Broad hallux, Posteriorly rotated ears, Wide anterior fontanel, Brachyceph... |
OMIM:239710 |
| Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Joint laxity, Mandibular prognathia, Frontal bossing, Tented upper lip vermilion, 2-3 toe cutaneo... |
OMIM:615828 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Epiphyseal stippling, Short nose, Short nasal septum, Short dist... |
OMIM:302950 |
| Arthrogryposis, Distal, Type 1C |
|
Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... |
OMIM:619110 |
| Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
| Non-Distal Duplication 13Q |
|
Arachnodactyly, Abnormality of the dentition, Micrognathia, Postaxial hand polydactyly, Aplasia/H... |
ORPHA:1702 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Hearing impairment, Limited elbow extension, Short metatars... |
ORPHA:1856 |
| Pfeiffer Syndrome Type 3 |
|
Respiratory distress, High palate, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridg... |
ORPHA:93260 |
| Catifa Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Cleft lip, Asthma, Cleft palate, Microtia, Increased... |
OMIM:618761 |
| Down Syndrome |
|
Joint laxity, Sandal gap, Aganglionic megacolon, Protruding tongue, Hypoplastic iliac wing, Condu... |
OMIM:190685 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Genu valgum, Downturned corners of mouth, Reduced bone mineral... |
ORPHA:2983 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Glossoptosis, Death in infancy |
OMIM:614876 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Anteverted nares, Depressed nasal bridge, Short metatars... |
OMIM:614613 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Arthritis |
OMIM:613217 |
| Angelman Syndrome Due To A Point Mutation |
|
Mandibular prognathia, Flat occiput, Protruding tongue, Wide mouth, EEG abnormality, Widely space... |
ORPHA:411511 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Interictal EEG abnormality, Respiratory distress, Tapered finger, Sensorineu... |
ORPHA:544503 |
| Cerebrooculonasal Syndrome |
|
Low-set, posteriorly rotated ears, Postaxial hand polydactyly, Brachycephaly, Abnormal tragus mor... |
ORPHA:66625 |
| Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... |
ORPHA:75508 |
| Intermediate Nemaline Myopathy |
|
Facial palsy, Multiple prenatal fractures, High, narrow palate, Flexion contracture, Facial diple... |
ORPHA:171433 |
| Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Short palm, Jo... |
OMIM:601812 |
| Perlman Syndrome |
|
Posteriorly rotated ears, Anteverted nares, Micrognathia, High, narrow palate, Short nose, Wide n... |
ORPHA:2849 |
| Zechi-Ceide Syndrome |
|
Mandibular prognathia, Wide nose, Sandal gap, Cleft lip, Short metatarsal, Abnormal earlobe morph... |
ORPHA:217017 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Prominent nose, Brachycephaly, Bifid uvula, Joint laxity, Depressed nasal b... |
OMIM:300968 |
| Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Abnormal cartilage matrix, Multiple joint dislocation, Joint dislocation |
OMIM:245650 |
| Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Flat occiput, Dental crowding, Hypoplasia of the maxilla, Clinodactyly, Br... |
OMIM:614188 |
| Ohdo Syndrome |
|
Joint laxity, Anteverted nares, Depressed nasal bridge, Hearing impairment, Micrognathia, Short n... |
OMIM:249620 |
| Hypertrichosis Cubiti |
|
Joint hyperflexibility, Rhizomelia, Prominent nasal bridge, Micromelia |
ORPHA:2220 |
| Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Hearing impairment, M... |
OMIM:600383 |
| Stickler Syndrome, Type I |
|
Arthropathy, Arachnodactyly, Joint stiffness, Osteoarthritis, Irregular femoral epiphysis, Arthri... |
OMIM:108300 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Joint laxity, Broad toe, Frontal bossing, Tented upper lip vermilion, Dental crowding, Rocker bot... |
OMIM:612582 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Limite... |
ORPHA:266 |
| Keutel Syndrome |
|
Tracheal atresia, Wide nose, Midface retrusion, Depressed nasal bridge, Underdeveloped nasal alae... |
ORPHA:85202 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Mandibular prognathia, Midface retrusion, Posteriorly rotated ears, Rhizomelia, Met... |
OMIM:612813 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o... |
OMIM:616007 |
| Acrocraniofacial Dysostosis |
|
Micrognathia, Short philtrum, Triphalangeal thumb, Abnormality of the malleus, Conductive hearing... |
ORPHA:949 |
| Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal carpal morphology, Brachycephaly, Anterio... |
ORPHA:1225 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Wide nose, Congenital hip dislocation, Posteriorly rotated ears, Limited elbow mov... |
OMIM:300280 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the... |
OMIM:609616 |
| X-Linked Hypophosphatemia |
|
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... |
ORPHA:89936 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
| Cdags Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Rectourethral fistula, Parietal foramina, Sensorineur... |
OMIM:603116 |
| Facial Paresis, Hereditary Congenital, 3 |
|
Tented upper lip vermilion, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, M... |
OMIM:614744 |
| 19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Narrow nasal bridge, Sandal gap, Anteverted nares, Craniosynostosi... |
ORPHA:254346 |
| Ritscher-Schinzel Syndrome 4 |
|
Ulnar deviation of the hand, Tapered finger, Hip dislocation, Wide nasal bridge, Narrow palate, B... |
OMIM:619435 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Flexion contracture, Death... |
OMIM:300717 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Hypoplasia of the maxilla, Tachypnea, Depressed nasal ridge, Thick nasal alae, Hypoplastic cervic... |
ORPHA:79345 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Brachycephaly, Anteriorly placed a... |
OMIM:619148 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
11 pairs of ribs, Hyperextensibility of the finger joints, Neonatal respiratory distress, Promine... |
OMIM:618356 |
| Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... |
OMIM:608022 |
| Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Depressed nasal bridge, Micrognathia, Missing ribs, Brachycephaly, Cleft palate, Prom... |
OMIM:220210 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Brachydactyly, Radial bowing, Limb joint contracture, Abnormal acetabulum morphology, Absent epip... |
ORPHA:93314 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Osteo... |
OMIM:130000 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ... |
OMIM:268310 |
| Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossification involving the ... |
ORPHA:1190 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Depressed nasal ridge, Respiratory failure, Limb undergrowth, Conductive hearing impairment, Abno... |
ORPHA:1861 |
| Alkaptonuria |
|
Joint dislocation, Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral d... |
ORPHA:56 |
| Diabetes Insipidus, Neurohypophyseal |
|
Osteopenia, Wide nose, Short nose, Long philtrum |
OMIM:125700 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, 2-3 toe syndactyly, Downturne... |
OMIM:613443 |
| Trisomy 9P |
|
Dental crowding, Abnormal nasal morphology, Non-midline cleft lip, Brachycephaly, Impacted tooth,... |
ORPHA:236 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Protruding tongue |
OMIM:614325 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Frontal bossing, Flat occiput, Osteomalacia, Irregular, rachitic-like ... |
ORPHA:289157 |
| Zechi-Ceide Syndrome |
|
Wide nose, Sandal gap, Cleft upper lip, Underdeveloped nasal alae, Short metatarsal, Wide nasal b... |
OMIM:612916 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Hallux valgus, Osteoarthritis, Generalized joint laxity, Osteoporosis, Hip dislocatio... |
OMIM:618000 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathi... |
OMIM:610536 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Brachycephaly, Anteriorly placed... |
ORPHA:247262 |
| Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Finger syndactyly, Micrognathia, Brachycephaly, Short nose, Spina bifida occ... |
ORPHA:1514 |
| Desanto-Shinawi Syndrome |
|
Thin upper lip vermilion, Abnormal pinna morphology, Posteriorly rotated ears, Depressed nasal br... |
OMIM:616708 |
| Cerebrooculonasal Syndrome |
|
Brachycephaly, Downturned corners of mouth, High palate, Conductive hearing impairment, Anteverte... |
OMIM:605627 |
| C Syndrome |
|
Micromelia, Micrognathia, High palate, Biparietal narrowing, Clinodactyly of the 5th finger, Abno... |
ORPHA:1308 |
| Hypochondroplasia |
|
Frontal bossing, Brachydactyly, Depressed nasal bridge, Aplasia/hypoplasia of the extremities, Fl... |
OMIM:146000 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Mandibular prognathia, Metaphyseal widening, Coxa vara, Genu varum, Rhizomelia, Antev... |
OMIM:271510 |
| Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Broad r... |
OMIM:139210 |
| Opsismodysplasia |
|
Hypoplastic vertebral bodies, Short palm, Short phalanx of finger, Short metacarpal, Rhizomelia, ... |
OMIM:258480 |
| Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Micrognathia, Brachycephaly, High palate, Abnormal helix morphology, Low-... |
ORPHA:1913 |
| Pycnodysostosis |
|
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Pr... |
ORPHA:763 |
| Holzgreve Syndrome |
|
Hand polydactyly, Cleft palate, Cleft upper lip |
OMIM:236110 |
| Chopra-Amiel-Gordon Syndrome |
|
Thin upper lip vermilion, Joint hypermobility, Cleft lip, Pierre-Robin sequence, Flared nostrils,... |
OMIM:619504 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, 2-3... |
OMIM:300260 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Proximal placement of thumb, Limited elbow movement, Micrognathia, Brachycephaly, Downturned corn... |
OMIM:610759 |
| 20Q11.2 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Tented upper lip vermilion, Anteverted nares, Depressed nasal ... |
ORPHA:363659 |
| 19P13.13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Sandal gap, Anteverted nares, Depressed nasal bridge, Optic nerve hypop... |
ORPHA:357001 |
| Auriculocondylar Syndrome |
|
Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, M... |
ORPHA:137888 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Micrognathia, Prominent nose, Delayed epiphyseal ossification, Flexion contracture, P... |
OMIM:210710 |
| Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis... |
ORPHA:69126 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Frontal bossing, Abnormal dental morphology, Abnormal dental enamel morphology, Tarsal synostosis... |
ORPHA:85199 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress, Micrognathia, Short middle phalanx of the 2nd finger, High, narrow palate, ... |
OMIM:119600 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Aplasia/Hypoplasia of the ulna |
ORPHA:2491 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Brachycephaly, ... |
OMIM:619995 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Frontal bossing, Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Symphalangi... |
ORPHA:2547 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Osteoporosis, Gout |
OMIM:610947 |
| Hallermann-Streiff Syndrome |
|
Micrognathia, High, narrow palate, Brachycephaly, Reduced bone mineral density, Glossoptosis, Rib... |
ORPHA:2108 |
| Laurence-Moon Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Sensorineural hearing impairment, Brachycep... |
ORPHA:2377 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Epiphyseal stippling, Wide nasal bridge, Low-set ears |
OMIM:614870 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, High palate, Conductiv... |
OMIM:182212 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Anteverted nares, Hearing impairment, Carious teeth, Deep phil... |
ORPHA:2701 |
| 6Q25 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Camptodactyly of finger, Rocker bot... |
ORPHA:251056 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Respiratory distress, Tented upper lip vermilion, Overlapping toe, Anteverte... |
OMIM:619383 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Proximal placement of thumb, High, narrow palate, Brachycephaly, Knee flexion contracture, High p... |
OMIM:613776 |
| Nager Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Joint stiffness, Micrognathia... |
ORPHA:245 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Narrow nasal bridge, Broad hallux, Depressed nasal bridge, Clinodactyly of the ... |
OMIM:620073 |
| Isolated Osteopoikilosis |
|
Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... |
ORPHA:166119 |
| Developmental And Epileptic Encephalopathy 31B |
|
Protruding tongue, Optic atrophy, Gingival overgrowth, Hypsarrhythmia, Low-set ears |
OMIM:620352 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Retrognathia, High palate, Brachycephaly, Narrow mouth |
ORPHA:2528 |
| Becker Nevus Syndrome |
|
Micromelia, Abnormal tibia morphology, Rib fusion, Supernumerary ribs, Spina bifida occulta |
ORPHA:64755 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
Joint laxity, Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Broad nasal tip, Hi... |
OMIM:613544 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Abnormality of the temporomandibular joint, Facial palsy, Protruding tongue, Fle... |
ORPHA:258 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Brachycephaly, Knee f... |
ORPHA:3103 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Abnormality of the seventh cranial n... |
ORPHA:90117 |
| Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ... |
OMIM:600920 |
| Rhizomelic Syndrome, Urbach Type |
|
Rhizomelia, Depressed nasal bridge, Micrognathia, Abnormality of the humerus, Preaxial hand polyd... |
ORPHA:3098 |
| Juvenile Sialidosis Type 2 |
|
Protruding tongue, Optic atrophy, Gingival overgrowth, Low-set ears, Hearing impairment |
ORPHA:93399 |
| Holzgreve Syndrome |
|
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Turricephaly, Aplasia/Hypoplasi... |
ORPHA:2167 |
| Peho Syndrome |
|
Anteverted nares, Tapered finger, External ear malformation, Flexion contracture, Limitation of j... |
ORPHA:2836 |
| Bilateral Perisylvian Polymicrogyria |
|
EEG with polyspike wave complexes, EEG with parietal focal spikes, EEG with frontal focal spikes,... |
ORPHA:98889 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Osteoporosis, U... |
ORPHA:94068 |
| Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Abnormality of the ear, Clinodactyly of the 5th finger, Cond... |
ORPHA:2710 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Mandibular prognathia, Cleft upper lip, Brachycephaly, Cleft palate, Malar flattening, Spina bifi... |
OMIM:268850 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Frontal bossing, Posteriorly rotated ears, Down-sloping shoulders, Anteverted ... |
ORPHA:1974 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Syndactyly, Neonatal respiratory distress, Abnormal pinna morphology, Antev... |
OMIM:217980 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Frontal bossing, Central apnea, Rhizomelia, Depressed nasal bridge, Wide an... |
OMIM:616482 |
| Glass Syndrome |
|
Dental crowding, Anterior tibial bowing, Apnea, Conical tooth, Micrognathia, Long nose, Oligodont... |
OMIM:612313 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Broad long bones, Anteverted nares, Depressed nasal bridge, Abnormal metatarsal morphology, Narro... |
ORPHA:163654 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Frontal bossing, Depressed nasal bridge, Hip dislocation, Brachycephaly, Wide mouth, Low-set ears... |
OMIM:608776 |
| Trisomy 12P |
|
Turricephaly, Micrognathia, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Abnorma... |
ORPHA:1699 |
| Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Conductive he... |
OMIM:252100 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
| Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Cloverleaf skull, Micromelia |
OMIM:156830 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Abnormal pinna morphology, Micromelia, Craniosynostosis, Postaxial hand polyda... |
OMIM:200995 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
High-frequency sensorineural hearing impairment, Abnormal lower motor neuron morphology, Respirat... |
ORPHA:2590 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... |
OMIM:166210 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Thin upper lip vermilion, Death in infancy, Neonatal respiratory distress, ... |
OMIM:615042 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ... |
ORPHA:96334 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Micromelia |
OMIM:273680 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Camptodactyly of finger, Flexion contracture, Wide mouth, Respiratory failure, ... |
ORPHA:1194 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Deep philtrum, Brachycephaly, High palate, Clinodactyly of the 5th finger, Syndactyly, Vertebral ... |
OMIM:227330 |
| Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Abnormality of the dentition, Limitation of joint mobility, Epiphyseal stippling, Abn... |
ORPHA:177 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, High palate, Prominent finger... |
OMIM:300558 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
| Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure, Flexion contracture, Facial palsy |
OMIM:615348 |
| Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Brachycephaly, Oligodontia, Aplasia/Hypo... |
ORPHA:2095 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, Anteriorly placed anus,... |
OMIM:218600 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Knee osteoarthritis, Oligoarthritis, Uveitis, Abnormality of the ankle, Rheumatoid arthritis, Joi... |
ORPHA:85410 |
| Verheij Syndrome |
|
Joint laxity, Thin upper lip vermilion, Vertebral fusion, Branchial cyst, Anteverted nares, Optic... |
OMIM:615583 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Abnormality of the dentition, Conical ... |
ORPHA:228390 |
| Weiss-Kruszka Syndrome |
|
Exaggerated cupid's bow, Anteverted nares, Proximal placement of thumb, Hearing impairment, Cuppe... |
OMIM:618619 |
| Menkes Disease |
|
Joint laxity, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Brachycephaly, Hypsarrhythmi... |
OMIM:309400 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Hand clenching, Apnea, Hearing impairment, Protruding tongue |
OMIM:619580 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Talipes equinovarus, Abnormal auditory e... |
OMIM:601382 |
| Chime Syndrome |
|
Depressed nasal ridge, Brachycephaly, Short philtrum, Short palm, Microdontia, Abnormal dental mo... |
ORPHA:3474 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media |
OMIM:601457 |
| Auriculocondylar Syndrome 1 |
|
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Apnea, Micrognath... |
OMIM:602483 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Tented upper lip vermilion, Anteverted nares, Tapered finger, Bulbous nose, Flexion contracture, ... |
OMIM:616505 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Limitation of joint mobility, Coxa vara, Short femoral neck, Hypoplasia of the capital femoral ep... |
OMIM:313400 |
| Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Protrusio acetabuli, Recurrent fractures, Brachycephaly, Coxa vara, Inc... |
OMIM:610968 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Anteverted nares, Cleft upper lip, Bulbous nose, Wide nasal bridge, Cleft palate, Brachycephaly, ... |
OMIM:300958 |
| Pentasomy X |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Small hand, Wide nasal ... |
ORPHA:11 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Thin upper lip vermilion, Depressed nasal bridge, Long philtrum, Short nose, Macrotia, Smooth phi... |
ORPHA:438178 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem... |
OMIM:304120 |
| 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 |
| Marshall-Smith Syndrome |
|
Irregular dentition, Large sternal ossification centers, Apnea, Distal widening of metacarpals, C... |
OMIM:602535 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Mandibular prognathia, Thick lower lip vermilion, Brachycephaly, Wide mouth, Thick upper lip verm... |
OMIM:309545 |
| Craniosynostosis 2 |
|
Bicoronal synostosis, Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Supernu... |
OMIM:604757 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
| 2Q23.1 Microdeletion Syndrome |
|
Tented upper lip vermilion, Sandal gap, Macrodontia, Brachycephaly, Hip dysplasia, Everted lower ... |
ORPHA:228402 |
| 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 |
| Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
| Fibrous Dysplasia Of Bone |
|
Abnormal occipital bone morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa va... |
ORPHA:249 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Respiratory distress, Congenital hip dislocation, Micromelia, Cleft maxillary alv... |
ORPHA:508488 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Split hand, Toe syndactyly, Split foot, Cleft palate |
OMIM:183700 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol... |
ORPHA:3429 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Split foot, Cutan... |
DECIPHER:46 |
| Trisomy 10P |
|
Micrognathia, Abnormality of the ear, Orofacial cleft, EEG with focal spikes, High palate, Abnorm... |
ORPHA:171929 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening... |
ORPHA:536467 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Frontal bossing, Posteriorly rotated ears, Thick nasal alae, Episodic tachypnea, Micrognathia, Re... |
ORPHA:163961 |
| Angelman Syndrome |
|
Mandibular prognathia, Optic disc pallor, Flat occiput, Protruding tongue, Optic atrophy, Wide mo... |
ORPHA:72 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Dental crowding, Micrognathia, Oligodontia, High palate, Short philtrum, Clinodactyly of the 5th ... |
OMIM:617061 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Frontal bossing, Hearing impairment, Tapered finger, Micrognathia, Retrognathia, Narrow palate, H... |
OMIM:620250 |
| Morgagni-Stewart-Morel Syndrome |
|
Osteoarthritis, Osteoporosis, Acne |
ORPHA:77296 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Posteriorly rotated ears, Depressed nasal br... |
OMIM:619833 |
| Glycine Encephalopathy 2 |
|
EEG with burst suppression, Respiratory failure |
OMIM:620398 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Joint laxity, Thin upper lip vermilion, Limited elbow extension and supination, Intestinal malrot... |
ORPHA:401935 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... |
OMIM:609945 |
| Geleophysic Dysplasia 1 |
|
Short palm, Osteopenia, Anteverted nares, Camptodactyly of finger, Tracheal stenosis, Coxa valga,... |
OMIM:231050 |
| Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Anteverted nares, Cleft upper lip, Duplication of phalanx of hallux, Se... |
OMIM:243310 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Microretrognathia, Frontal bossing, Arachno... |
ORPHA:2994 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Joint laxity, Thin upper lip vermilion, Wide nose, Anteverted nares, Down-sloping shoulders, Devi... |
ORPHA:391408 |
| Doors Syndrome |
|
Respiratory distress, Short lingual frenulum, Abnormal finger morphology, Brachycephaly, Downturn... |
ORPHA:79500 |
| Hartsfield Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Craniosynostosis, Non-midline cleft li... |
ORPHA:2117 |
| Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Joint stiffness, ... |
ORPHA:2107 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Osteopenia, Thin upper lip vermilion, Posteriorly rotated ears, Joint hypermobility, Depressed na... |
OMIM:618590 |
| Craniosynostosis 6 |
|
Turricephaly, Craniosynostosis, Parietal foramina, Sensorineural hearing impairment, Brachycephal... |
OMIM:616602 |
| Beck-Fahrner Syndrome |
|
Brachycephaly, Protruding ear, EEG abnormality, Hip dysplasia, High palate, Long philtrum, Open m... |
OMIM:618798 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Frontal bossing, Toe syndactyly, Abnormal pinna morphology, Camptodactyly of f... |
ORPHA:261211 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Tented upper lip vermilion, Broad hallux, Aganglionic megacolon, Broad nasal tip, ... |
OMIM:614749 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Frontal bossing, Depressed nasal bridge, Aplasia/Hypop... |
ORPHA:2256 |
| Al-Raqad Syndrome |
|
Joint laxity, Thin upper lip vermilion, Sandal gap, Low-set ears, Narrow mouth, Short nose, Brach... |
OMIM:616459 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Premature osteoarthritis, Meta... |
ORPHA:93352 |
| Orofaciodigital Syndrome Xv |
|
Broad hallux, Anteverted nares, Postaxial hand polydactyly, Duplication of phalanx of hallux, Wid... |
OMIM:617127 |
| Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... |
ORPHA:1507 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue... |
OMIM:601596 |
| Xq28 (MECP2) duplication |
|
Depressed nasal bridge, Narrow mouth, Brachycephaly, Death in childhood, Malar flattening, Macrotia |
DECIPHER:45 |
| Crouzon Syndrome |
|
Mandibular prognathia, Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hypoplasia of... |
OMIM:123500 |
| Lowry-Maclean Syndrome |
|
Osteopenia, Short nasal bridge, Choanal atresia, Delayed eruption of primary teeth, Craniosynosto... |
ORPHA:2409 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Plagiocephaly, Slender long bone, Decrea... |
OMIM:618265 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Depressed nasal bridge, Accessory oral frenulum, Hamartoma of tongue, Postaxial polydactyly, Apla... |
OMIM:616546 |
| Ayme-Gripp Syndrome |
|
Mandibular prognathia, Brachycephaly, Depressed nasal bridge, Tapered finger, Wide nasal bridge, ... |
OMIM:601088 |
| Alg9-Cdg |
|
Villous atrophy, Micrognathia, Brachycephaly, Large fleshy ears, Narrow greater sciatic notch, Ab... |
ORPHA:79328 |
| Campomelic Dysplasia |
|
Micrognathia, Tibial bowing, Femoral bowing, Hypoplastic inferior ilia, Poorly ossified cervical ... |
ORPHA:140 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Tented upper lip vermilion, Micrognathia, High, narrow palate, Brachycephaly, Downtur... |
ORPHA:369837 |
| Autosomal Dominant Omodysplasia |
|
Short palm, Short humerus, Frontal bossing, Rhizomelia, Depressed nasal bridge, Micrognathia, Lon... |
ORPHA:93328 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Frontal bossing, Osteomalacia, Premature loss of primary teeth, Abnormality of the dentition, Rec... |
ORPHA:93160 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Prominent nose, Aplasia of the epiglottis, Protruding ... |
OMIM:268305 |
| Trisomy 8Q |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Joint stiffness, Micrognathia, Non-mi... |
ORPHA:1752 |
| Omodysplasia 2 |
|
Tented upper lip vermilion, Micrognathia, Limited elbow flexion, Clinodactyly of the 5th finger, ... |
OMIM:164745 |
| Melioidosis |
|
Foot osteomyelitis, Pneumonia, Osteoarthritis, Hepatitis, Acute infectious pneumonia, Septic arth... |
ORPHA:31202 |
| Temple Syndrome |
|
Frontal bossing, Wide nose, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, M... |
OMIM:616222 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Flexion contracture, Optic atrophy, Brachycephaly, Plagiocephaly, EEG ab... |
ORPHA:272 |
| Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Long nose, Patellar hypoplasia, High palate, Microdontia, Short phalanx of finger, Ge... |
ORPHA:221016 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Midface retrusion, Absent radius, Conductive hear... |
OMIM:171480 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Optic atrophy, Respiratory failure, Aspiration pneumonia, Hearing ... |
OMIM:619057 |
| Monosomy 9P |
|
Proximal placement of thumb, Micrognathia, Brachycephaly, Anotia, High palate, Anteverted nares, ... |
ORPHA:261112 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Polydactyly, Low-set ears, Conductive hearing impairment, Short nose, Hyp... |
OMIM:616910 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Short humerus, Short metacarpal, Wide nose, Rhizomelia, Depressed nasal ri... |
ORPHA:2831 |
| Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ... |
OMIM:228000 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Frontal bossing, Congenital hip dislocation, Narrow nasal ridge, Hip dislocation, Brachycephaly, ... |
OMIM:219150 |
| Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Short phalanx of finger, Synda... |
OMIM:616894 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O... |
ORPHA:289176 |
| Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Frontal bossing, Arachnodactyly, Carious teeth, Wide nas... |
ORPHA:377 |
| White-Sutton Syndrome |
|
Mandibular prognathia, Micrognathia, Brachycephaly, Downturned corners of mouth, Short philtrum, ... |
OMIM:616364 |
| Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Coxa vara, Clinodactyly of the 5th finger, Vertebral fusion, Short metacarpal, Anteverted nares, ... |
OMIM:272460 |
| X-Linked Dystonia-Parkinsonism |
|
Protruding tongue |
ORPHA:53351 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Flexion contracture, Brachycephaly, Femoral bowing, Anteriorly placed anus, ... |
ORPHA:95699 |
| Cornelia De Lange Syndrome |
|
Proximal placement of thumb, Micromelia, Micrognathia, Brachycephaly, Downturned corners of mouth... |
ORPHA:199 |
| Cleidocranial Dysplasia 2 |
|
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Delayed eruption of primary te... |
OMIM:620099 |
| Sydenham Chorea |
|
Septic arthritis, Endocarditis |
ORPHA:306731 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Glomerulonephritis, Synovitis, Arthritis, Serositis |
ORPHA:567544 |
| Developmental And Epileptic Encephalopathy 71 |
|
EEG with burst suppression, Respiratory failure, Cheyne-Stokes respiration, Respiratory insuffici... |
OMIM:618328 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Tented upper lip vermilion, Anteverted nares, Depressed na... |
ORPHA:314655 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Uplifted earlobe, Abnormality of the dentition, Tapered finger, Thick lower lip verm... |
ORPHA:261652 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Posteriorly rotated ears, Rocker bottom foot, Hearing impairment, Taper... |
OMIM:601353 |
| Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Brachycephaly, Anteriorly placed anus, Cutaneou... |
OMIM:211380 |
| Mulibrey Nanism |
|
Frontal bossing, Wide nose, Dental crowding, Depressed nasal bridge, Absent frontal sinuses, Enam... |
OMIM:253250 |
| Coffin-Siris Syndrome 6 |
|
Frontal bossing, Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Broad nasal tip,... |
OMIM:617808 |
| 3C Syndrome |
|
Finger syndactyly, Death in infancy, Frontal bossing, Depressed nasal bridge, Intestinal malrotat... |
ORPHA:7 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... |
OMIM:619751 |
| Autosomal Recessive Stickler Syndrome |
|
Epiphyseal dysplasia, Micrognathia, Sensorineural hearing impairment, Cleft palate, Genu valgum, ... |
ORPHA:250984 |
| 16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Tapered finger, High, narrow palate, Bulbous nose, 2-3 toe syndactyly, Wide mouth,... |
ORPHA:485405 |
| Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly, Oligodactyly |
OMIM:614416 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Optic atrophy, Respiratory insufficiency, Respiratory failure, High palate, Arthrogryposis multip... |
OMIM:615330 |
| Frontonasal Dysplasia 2 |
|
Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridge, Craniosynost... |
OMIM:613451 |
| Warburg Micro Syndrome 3 |
|
Micrognathia, Flexion contracture, Optic atrophy, Brachycephaly, Narrow palate, Downturned corner... |
OMIM:614222 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the maxilla, Sensorineural hearing... |
OMIM:109120 |
| Aarskog-Scott Syndrome |
|
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Anteverted nares, Cleft upper ... |
OMIM:305400 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Micrognathia, High palate, Phocomelia, Short metacarpal, Depressed nasal br... |
ORPHA:3404 |
| Nablus Mask-Like Facial Syndrome |
|
Hypoplasia of the maxilla, High palate, Small earlobe, Anteverted nares, Depressed nasal bridge, ... |
OMIM:608156 |
| Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Short metacarpal, Ivory epiphyses of the distal phalanges of the hand, Swelling of pr... |
OMIM:190350 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
| Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Tented upper lip vermilion, Depressed nasal bridge, Micrognathia, Flexion contracture, Brachyceph... |
OMIM:620240 |
| Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... |
ORPHA:93357 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
| Renpenning Syndrome |
|
Mandibular prognathia, Macrodontia, Joint stiffness, Abnormal thumb morphology, High, narrow pala... |
ORPHA:3242 |
| Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Tented upper lip vermilion, Dental crowding, Micrognathia, Flexion contract... |
OMIM:620369 |
| Orofaciodigital Syndrome Type 2 |
|
Apnea, Micrognathia, Complete duplication of hallux phalanx, Tachypnea, Protruding ear, Finger cl... |
ORPHA:2751 |
| Robinow Syndrome |
|
Dental crowding, Micrognathia, Orofacial cleft, Fused thoracic vertebrae, Syndactyly, Anteverted ... |
ORPHA:97360 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
| Distal Deletion 9P |
|
Low-set, posteriorly rotated ears, Abnormality of the dentition, High, narrow palate, Aplasia/Hyp... |
ORPHA:1642 |
| Distal Duplication 5Q |
|
Hypoplasia of the ulna, Prominent nasal bridge, Craniosynostosis, Absent thumb, Carious teeth, Mi... |
ORPHA:96097 |
| Clark-Baraitser syndrome |
|
Joint laxity, Exaggerated median tongue furrow, Frontal bossing, Anteverted nares, Tapered finger... |
OMIM:300602 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Micrognathia, Narrow mouth, Short nose, Delayed eruption of permanent teeth, Sh... |
OMIM:619356 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Death in infancy, Arachnodactyly, Micrognathia, Bulbous nose, Cupped ear, Wide nasal bridge, Clef... |
ORPHA:93946 |
| Muscular Dystrophy, Congenital, 1B |
|
Achilles tendon contracture, Facial palsy, Respiratory failure |
OMIM:604801 |
| Tetrasomy 5P |
|
Respiratory distress, Overlapping toe, Posteriorly rotated ears, Short hallux, Micrognathia, Ante... |
ORPHA:3309 |
| Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Micromelia, Abnormality of the dentit... |
ORPHA:289 |
| 2P15P16.1 Microdeletion Syndrome |
|
Brachycephaly, Protruding ear, High palate, Facial palsy, Tapered finger, Wide nasal bridge, EEG ... |
ORPHA:261349 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Posteriorly rotated ears, Aganglionic megacolon, Prominent nasal bridge, Tapered finger, Bulbous ... |
OMIM:613870 |
| X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Dental crowding, Brachycephaly, High palate, Short philtrum, Thickened hel... |
ORPHA:3063 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
| Den Hoed-De Boer-Voisin Syndrome |
|
EEG with focal spike waves, Brachycephaly, Widely spaced teeth, Amelogenesis imperfecta, 2-3 toe ... |
OMIM:619229 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Frontal bossing, Wide nose, Depressed nasal bridge, Micromelia, Cleft upper lip, Micrognathia, Pr... |
ORPHA:93271 |
| Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Brachycephaly, Short philtrum, Clinodactyly of the 5th finger, Small earlo... |
ORPHA:1449 |
| Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cutaneous syndact... |
OMIM:270400 |
| Miller-Dieker Syndrome |
|
Anteverted nares, Abnormal upper lip morphology, EEG abnormality, Clinodactyly of the 5th finger,... |
ORPHA:531 |
| Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Posteriorly rotated ears, Anteverted nares, Micrognathia, Depressed nasal bridge... |
OMIM:617822 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius, Cleft palate, Cleft upper lip |
OMIM:179400 |
| Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Proximal femoral metaphyseal irregularity, Coxa ... |
ORPHA:168549 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, ... |
OMIM:213980 |
| Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Low-set, posteriorly rotated ears, Anteverted nares... |
ORPHA:915 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Joint laxity, Wide nose, Depressed nasal bridge, Bulbous nose, Thick lower lip vermilion, Flared ... |
OMIM:610442 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Low-set, posteriorly rotated ears, Joint laxity, Mandibular prognathia, Midface retrusion, Rhizom... |
ORPHA:171866 |
| Immunodeficiency 61 |
|
Recurrent otitis media, Arthritis, Recurrent sinusitis |
OMIM:300310 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Hiatus hernia, C... |
ORPHA:3342 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Brachycephaly, Macrotia, Anal atresia |
ORPHA:93950 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Frontal bossing, Overlapping toe, Dolichocephaly, Cleft lip, Deep philtrum, Bu... |
OMIM:618571 |
| Kbg Syndrome |
|
Tented upper lip vermilion, Brachycephaly, Protruding ear, Widely-spaced maxillary central inciso... |
OMIM:148050 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Abnormal pinna morphology, Split hand, Hand oligodactyly, Cleft palate,... |
OMIM:183600 |
| Kbg Syndrome |
|
Thin upper lip vermilion, Vertebral fusion, Macrodontia, Anteverted nares, Prominent nasal bridge... |
ORPHA:2332 |
| Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Frontal bossing, Sandal gap, Posteriorly rotated ears, Anteverted nares, Depre... |
OMIM:616835 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Arachnodactyly, Anteverted nares, Bulbous nose, Thin vermilion border, Low-set ears, Long philtru... |
OMIM:616420 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Abnormal pinna morphology, Rocker bottom foot, Micrognathia, Calcaneo... |
ORPHA:3078 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea, Hearing impairment |
OMIM:616277 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, Promine... |
ORPHA:364577 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Abnormal cortical bone morphology, Increased bone mineral density, Abnormal lim... |
ORPHA:2204 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Microretrognathia, Abnormal m... |
ORPHA:1307 |
| Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Short metacarpal, Mixed hearing impairment, Cleft upper lip, Optic atrophy... |
OMIM:201180 |
| Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Thin bony cortex, Depressed nasal bridge, Thickened helices, Joint stiffness, H... |
OMIM:608328 |
| Severe Congenital Nemaline Myopathy |
|
Facial palsy, Multiple prenatal fractures, Flexion contracture, Thin ribs, Facial diplegia, Respi... |
ORPHA:171430 |
| Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Arthritis, Pericarditis, Malar rash |
OMIM:609939 |
| Abruzzo-Erickson Syndrome |
|
Cleft palate, Protruding ear, Radioulnar synostosis, Macrotia, Hearing impairment |
OMIM:302905 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Frontal bossing, Anteverted nares, Flared nostrils, Wide nasal bridge, Apneic episodes precipitat... |
OMIM:312170 |
| Schisis Association |
|
Micromelia, Tracheoesophageal fistula, Cleft palate, Unilateral cleft lip, Anal atresia |
ORPHA:63862 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Thin upper lip vermilion, Overlapping toe, Exaggerated cupid's bow, Intestinal malrotat... |
OMIM:618316 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Erythema nodosum, Arthritis, Recurrent aphthous stomatitis, Lower limb pain |
OMIM:611762 |
| Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Abnormal pinna morphology, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palat... |
ORPHA:158687 |
| Campomelic Dysplasia |
|
Respiratory distress, Irregular dentition, Apnea, Anterior tibial bowing, Micrognathia, Delayed e... |
OMIM:114290 |
| Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re... |
OMIM:619773 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Long fingers, Narrow mouth, Brach... |
OMIM:156610 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose |
ORPHA:1355 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... |
OMIM:600002 |
| Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Nasal polyposis, Intestinal malrotation, Productive cough, Wheezin... |
ORPHA:244 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Posteriorly rotated ears, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Underdev... |
ORPHA:2083 |
| Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Tented upper lip vermilion, Posteriorly rotated ears, Multiple prenatal fr... |
OMIM:618644 |
| Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Osteoarthritis, Brachycephaly, High palate, Bilateral coxa valga, Bif... |
OMIM:615582 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... |
OMIM:300554 |
| Meckel Syndrome, Type 8 |
|
Cleft upper lip, Depressed nasal ridge, Cleft palate, Polydactyly, Talipes equinovarus, Low-set e... |
OMIM:613885 |
| Aymé-Gripp Syndrome |
|
Brachycephaly, Oligodontia, Clinodactyly of the 5th finger, Depressed nasal bridge, Tapered finge... |
ORPHA:1272 |
| 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 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Optic disc pallor, Posteriorly rotated ears, Sandal gap, Long philtrum, Pulmonary arterial hypert... |
OMIM:300887 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Tented upper lip vermilion, Sandal gap, Posteriorly rotated ears, Prominent nasal bridge, Small h... |
OMIM:618885 |
| Cree Mental Retardation Syndrome |
|
Aplasia/Hypoplasia of the ribs, Posteriorly rotated ears, Rocker bottom foot, Cleft soft palate, ... |
OMIM:606851 |
| Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Mandibular prognathia, Thickened ribs, Brachycephaly, Cortical thickening of long bon... |
ORPHA:309282 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Frontal bossing, Congenital hip dislocation, Anteverted nares, Carious teeth, Narrow mouth, Wide ... |
OMIM:219200 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Increased bone mineral density, Facial palsy, Micrognathia, Cranial hyperostos... |
OMIM:259720 |
| Intellectual Disability-Strabismus Syndrome |
|
Depressed nasal bridge, Rocker bottom foot, Narrow nasal ridge, Abnormality of the dentition, Mic... |
ORPHA:363528 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous cleft hard palate, Posteriorly ... |
OMIM:192445 |
| Oculodentodigital Dysplasia |
|
Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Conductive hearing im... |
OMIM:164200 |
| Atelosteogenesis, Type Iii |
|
Frontal bossing, Radial bowing, Sandal gap, Rhizomelia, Depressed nasal bridge, Micrognathia, Tom... |
OMIM:108721 |
| Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormality of the philtrum, Abnormal distal phalanx morphology of finger,... |
ORPHA:2673 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Micrognathia, Flexion contracture, Brachycephaly, Protruding ear, Oligodontia, High palate, Short... |
OMIM:309590 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Hearing abnormali... |
ORPHA:2031 |
| Larsen Syndrome |
|
Finger syndactyly, Depressed nasal bridge, Craniosynostosis, Accessory carpal bones, Cleft palate... |
ORPHA:503 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Thin upper lip vermilion, Decreased sensory nerve cond... |
ORPHA:456312 |
| Distal Deletion 10P |
|
Low-set, posteriorly rotated ears, Joint stiffness, Micrognathia, Hearing abnormality, Non-midlin... |
ORPHA:1580 |
| Fetal Akinesia Deformation Sequence 2 |
|
Tented upper lip vermilion, Micrognathia, Flexion contracture, Wide nasal bridge, Cleft palate, R... |
OMIM:618388 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Joint stiffness, Micrognathia, Cleft palate, Protruding ear, Respiratory insufficiency, Tooth age... |
ORPHA:1166 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Arthrogryposis multipl... |
OMIM:619334 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... |
OMIM:605282 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Death in infancy, Neonatal respiratory distress, Tapered toe, Posteriorly rotated ears,... |
OMIM:608836 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... |
ORPHA:1106 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares... |
OMIM:612394 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Micromelia, Ulnar bowing, Aplasia/Hypoplasia of the radius, Microdontia |
ORPHA:1765 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Micrognathia... |
ORPHA:536471 |
| Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Decreased distal sensory nerve action potential, Down-sloping shoulders, Sensorineural hearing im... |
OMIM:606071 |
| Williams-Beuren Region Duplication Syndrome |
|
Micrognathia, Diastema, Broad nasal tip, Brachycephaly, High palate, Short philtrum, Chronic otit... |
OMIM:609757 |
| Toluene Embryopathy |
|
Tapered finger, Micrognathia, Protruding ear, Thin vermilion border, Hypoplasia of the zygomatic ... |
ORPHA:1920 |
| Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Depressed nasal bridge, Joint stiffness, Hypoplasia of the maxilla, Broad skull... |
OMIM:277600 |
| Acrofacial Dysostosis, Catania Type |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Microretrognathia, Abnormality of the denti... |
ORPHA:1786 |
| Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Brachycephaly, Downturned corners of mouth, High palate, Widely spaced teeth, Bi... |
OMIM:618268 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Congenital contracture, Respiratory failure |
OMIM:225753 |
| Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
| Zimmermann-Laband Syndrome |
|
Hallux valgus, Wide nose, Micrognathia, Supernumerary tooth, Sensorineural hearing impairment, Bu... |
ORPHA:3473 |
| Neu-Laxova Syndrome 1 |
|
Micromelia, Swollen lip, Micrognathia, Calcaneovalgus deformity, Depressed nasal ridge, Neonatal ... |
OMIM:256520 |
| Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Frontal bossing, Dental crowding, Anteverted nares, Sagitt... |
OMIM:145420 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Flexion contra... |
OMIM:224690 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Thin upper lip vermilion, Optic disc pallor, Abnormal auditory evoked potentials, High palate, Br... |
OMIM:617523 |
| Loeys-Dietz Syndrome 6 |
|
Hip osteoarthritis, Knee osteoarthritis, Arachnodactyly, Intervertebral disc degeneration |
OMIM:619656 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Wide nose, Frontal bossing, Sandal gap, Broad hallux, Dental crowding, ... |
OMIM:616078 |
| Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Optic disc pallor, Congenital hip dislocation, Abnormal pinna morpholog... |
OMIM:244450 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Joint laxity, Exaggerated cupid's bow, Overlapping toe, Anteverted nares, Depressed nas... |
ORPHA:254528 |
| Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Osteoarthritis, Delayed skeletal maturation, Bone pai... |
ORPHA:77259 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Broad nasal tip, Malar flattening, Open mouth, Retrognathia, Short nose |
OMIM:613670 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Overlapping toe, Arachnodactyly, Micrognathia, Metatarsus adductus, Short thumb, High, narrow pal... |
ORPHA:436003 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Micrognathia... |
OMIM:258860 |
| Vacterl Association With Hydrocephalus |
|
Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Stillbirth, Anal ... |
OMIM:276950 |
| Burn-Mckeown Syndrome |
|
Mandibular prognathia, Choanal atresia, Prominent nasal bridge, Cleft upper lip, Micrognathia, Un... |
OMIM:608572 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Thin upper lip vermilion, Respiratory distress, Micrognathia, EEG with burst suppress... |
ORPHA:329178 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Spontaneous neonatal pneumothorax, Frontal open bite, Micrognathia, Wid... |
OMIM:225410 |
| Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Split hand, Cleft palate... |
OMIM:246560 |
| Alagille Syndrome |
|
Hypoplasia of the ulna, Frontal bossing, Micrognathia, Long nose, Abnormal rib morphology, Brachy... |
ORPHA:52 |
| Kagami-Ogata Syndrome |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Coxa valga, Micrognathia, Long fingers... |
OMIM:608149 |
| Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Downturned corners of mouth, Deep philtrum, Anteverted nares, Brachycephaly |
OMIM:618859 |
| Seckel Syndrome 1 |
|
Dental crowding, Abnormal finger flexion crease, Selective tooth agenesis, Micrognathia, Prominen... |
OMIM:210600 |
| Branchioskeletogenital Syndrome |
|
Attached earlobe, Mandibular prognathia, Upper limb peromelia, Hypoplasia of the maxilla, Brachyc... |
ORPHA:1299 |
| 19P13.3 Microduplication Syndrome |
|
Posteriorly rotated ears, Micrognathia, Prominent nose, Long fingers, Underdeveloped nasal alae, ... |
ORPHA:447980 |
| Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Decreased... |
OMIM:614592 |
| Smith-Kingsmore Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Rhizomelia, Depressed nasal bridge, Short proximal pha... |
OMIM:616638 |
| Bainbridge-Ropers Syndrome |
|
Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge... |
OMIM:615485 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
| Congenital Varicella Syndrome |
|
Micromelia |
ORPHA:291 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Aplasia/Hypoplasia of the... |
OMIM:113000 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G... |
OMIM:250420 |
| Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... |
ORPHA:93323 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Micrognathia, Flexion contracture, Brachycephaly, High palate, Short philtrum, Death ... |
OMIM:619127 |
| Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Wide nose, Underdeveloped nasal alae, External ear malformation, Non-midline c... |
ORPHA:1252 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Congenital hip dislocation, Micrognathia, Fra... |
ORPHA:496641 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Wide nose, Abnormal pinna morphology, Epistaxis, Bulbous nose, Tented philtrum, Patellar aplasia,... |
ORPHA:495818 |
| Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Hearing impairment, Hypoplasia of the maxilla, Optic atrophy, Cleft palate, Low-set ea... |
OMIM:614261 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Long nose, Narrow greater sciatic notch, Short phalanx of f... |
ORPHA:508533 |
| Fetal Hydantoin Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Hearing abnormality, Depressed nasa... |
ORPHA:1912 |
| Acromelic Frontonasal Dysplasia |
|
Median cleft lip, Broad nasal tip, Bifid nasal tip, Brachycephaly, Patellar hypoplasia, Upper air... |
ORPHA:1827 |
| Thoracomelic Dysplasia |
|
Abnormal fibula morphology, Genu valgum, Joint hyperflexibility, Abnormal pelvic girdle bone morp... |
ORPHA:1803 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Cleft palate |
OMIM:258320 |
| Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... |
ORPHA:50815 |
| Au-Kline Syndrome |
|
Downturned corners of mouth, Oligodontia, High palate, Clinodactyly of the 5th finger, Bifid uvul... |
OMIM:616580 |
| Desbuquois Dysplasia 2 |
|
Dental crowding, Metaphyseal widening, Short phalanx of finger, Bifid uvula, Genu varum, Joint la... |
OMIM:615777 |
| Frontonasal Dysplasia 3 |
|
Posteriorly rotated ears, Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Brachycepha... |
OMIM:613456 |
| Acromelic Frontonasal Dysostosis |
|
Syndactyly, Optic nerve hypoplasia, Cleft upper lip, Broad nasal tip, Bifid nasal tip, Parietal f... |
OMIM:603671 |
| Tarp Syndrome |
|
Micrognathia, Glossoptosis, High palate, Neonatal death, Anteverted nares, Wide nasal bridge, Mic... |
OMIM:311900 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Brachycephaly, Interictal epileptiform activity |
OMIM:300699 |
| Peters Plus Syndrome |
|
Micromelia, Micrognathia, Brachycephaly, Widely spaced teeth, Conductive hearing impairment, Clin... |
ORPHA:709 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Downturned corners of mouth, Conductive hearing impairment, Advanced eruption of teeth, Prominenc... |
ORPHA:2215 |
| Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Diastema, Postaxial polydactyly, Hypoplasia of the maxill... |
OMIM:619142 |
| Stickler Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge, Reduced bone mine... |
ORPHA:828 |
| Baker-Gordon Syndrome |
|
Joint laxity, Thin upper lip vermilion, EEG abnormality, Prominent nasal tip, Short nose, Smooth ... |
OMIM:618218 |
| Kleefstra Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's... |
ORPHA:261494 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Dental crowding, Narrow nasal ridge, Micrognathia, Flexion contracture,... |
OMIM:608612 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Psoriasiform dermatitis, Acne, Skin rash, Abnormal sacroiliac joint morphology, Cr... |
ORPHA:324964 |
| Harel-Yoon Syndrome |
|
Mandibular prognathia, Frontal bossing, Micrognathia, Optic atrophy, Hip dysplasia, Short nose |
OMIM:617183 |
| Craniofrontonasal Syndrome |
|
Joint laxity, Frontal bossing, Toe syndactyly, Broad hallux, Down-sloping shoulders, Cleft upper ... |
OMIM:304110 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Brachycephaly, Hypoplastic coccy... |
OMIM:619512 |
| 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 |
| De Barsy Syndrome |
|
Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Small, conical teeth, Generali... |
ORPHA:2962 |
| Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... |
ORPHA:2712 |
| Seckel Syndrome 5 |
|
11 pairs of ribs, Selective tooth agenesis, Prominent nasal bridge, Micrognathia, Cleft palate, O... |
OMIM:613823 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Brachycephaly, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5t... |
OMIM:274000 |
| Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow... |
OMIM:614753 |
| Braddock-Carey Syndrome 2 |
|
Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory c... |
OMIM:619981 |
| C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Bronchiectasis, Arthritis, Recurrent otitis media, Malar rash |
OMIM:620321 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Irregular dentition, Optic disc pallor, Depressed nasal bridge, Abnormal auditory evoked potentia... |
OMIM:619260 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Frontal bossing, Prominent nose, Wide nasal bridge, Symphalangism affecting the phalanges of the ... |
ORPHA:1292 |
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
| Cartilage-Hair Hypoplasia |
|
Joint laxity, Metaphyseal dysplasia, Anal stenosis, Aganglionic megacolon, Flaring of lower rib c... |
OMIM:250250 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
| Thanatophoric Dysplasia, Type I |
|
Frontal bossing, Bowing of the long bones, Cloverleaf skull, Neonatal respiratory distress, Small... |
OMIM:187600 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Epiphyseal stippling, Respiratory failure, Depressed nasal bridge, Death in infancy |
OMIM:614862 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Uplifted earlobe, Short nose,... |
OMIM:300143 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Micrognathia, Short thumb, Hypoplasia of th... |
OMIM:227270 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Mandibular prognathia, Uplifted earlobe, Brachycephaly, Narrow palate, Short upper ... |
ORPHA:364028 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Arthritis, Otitis media, ... |
ORPHA:229717 |
| Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Frontal bossing, Rhizomelia, Depressed nasal bridge, Hearing impairment, Craniosynostosis, Microg... |
OMIM:614114 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Micrognathia, Brac... |
OMIM:257300 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Camptodactyly of finger, Decreased nerve conduction velocity, Tachypnea, Degeneration of anterior... |
OMIM:604320 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Micromelia, Optic disc coloboma, Short phalanx of finger, Brachydactyly |
OMIM:600092 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:245400 |
| Rhiny |
|
Short nose, Thin vermilion border, Anteverted nares |
OMIM:180360 |
| Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t... |
ORPHA:2750 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Pyloric stenosis, Small hand, ... |
ORPHA:96184 |
| Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Osteopenia, Abnormal trabecular bone morpholog... |
ORPHA:2909 |
| Rhombencephalosynapsis |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Microretrognathia, Septo-optic dysplasia, A... |
ORPHA:59315 |
| Tetraploidy |
|
Micrognathia, Radial club hand, Cleft palate, Short philtrum, Biparietal narrowing, Hypoplasia of... |
ORPHA:3305 |
| Crane-Heise Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Abnormally ossified vertebrae, Toe syndacty... |
ORPHA:1512 |
| Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Cond... |
OMIM:117650 |
| Arthrogryposis, Distal, Type 4 |
|
Osteopenia, 2-5 finger cutaneous syndactyly, Depressed nasal bridge, Cranial asymmetry, Camptodac... |
OMIM:609128 |
| Pallister-Hall Syndrome |
|
Anteriorly placed anus, Neonatal death, Distal shortening of limbs, Syndactyly, Mesoaxial foot po... |
OMIM:146510 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Tongue atrophy, Tongue fasciculations, Respiratory failure |
OMIM:613435 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Protruding ear, Microdonti... |
OMIM:613458 |
| Pontocerebellar Hypoplasia Type 1 |
|
Optic atrophy, Congenital laryngeal stridor, Degeneration of anterior horn cells, Respiratory fai... |
ORPHA:2254 |
| Warburg Micro Syndrome 2 |
|
Overlapping toe, Prominent nasal bridge, Asymmetry of the ears, Flexion contracture, Optic atroph... |
OMIM:614225 |
| Kinsship Syndrome |
|
Osteopenia, Mandibular prognathia, Micrognathia, Downturned corners of mouth, Short philtrum, Wid... |
OMIM:619297 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Missing ribs, Cleft palate, Narrow pelvis bone, Absent or minimally ossifie... |
ORPHA:66637 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Turricephaly, Apnea, Micrognathia, Metatarsus adductus, Dolichocephaly, Optic nerve dysplasia, Cl... |
OMIM:214110 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, C... |
ORPHA:93316 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly |
OMIM:611263 |
| Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Dental crowding, Brachycephaly, Prominent interphalangeal joints, Downturn... |
OMIM:618371 |
| Gm1 Gangliosidosis |
|
Mandibular prognathia, Frontal bossing, Depressed nasal bridge, Camptodactyly of finger, Joint st... |
ORPHA:354 |
| Secondary Non-Traumatic Avascular Necrosis |
|
Avascular necrosis, Limitation of joint mobility, Bone pain, Rheumatoid arthritis |
ORPHA:399180 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Facial palsy, Elbow contracture, Achilles tendon contracture, Macroglossia, Res... |
OMIM:606612 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Median cleft lip, Absent thumb, Aplasia/Hypoplasia of the dist... |
ORPHA:1234 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Abnormal pinna morphology, Broad nasal tip, Small hand, Retrognathia, Broad columella... |
ORPHA:488434 |
| Schinzel-Giedion Syndrome |
|
Respiratory distress, Micrognathia, Abnormality of the gingiva, Tibial bowing, Anteriorly placed ... |
ORPHA:798 |
| Desmosterolosis |
|
Frontal bossing, Hypoplastic nasal bridge, Posteriorly rotated ears, Rhizomelia, Anteverted nares... |
OMIM:602398 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Respiratory distress, Congenital hip dislocation, Prominent nose, Brachycephaly, Abno... |
ORPHA:480880 |
| Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Apnea, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High pala... |
OMIM:300373 |
| Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
| 5Q14.3 Microdeletion Syndrome |
|
Toe syndactyly, Anteverted nares, Optic nerve hypoplasia, Short philtrum, Open mouth, Short nose |
ORPHA:228384 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, High pal... |
OMIM:268400 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Hyperextensibility of the finger joints, Tented upper lip verm... |
ORPHA:521426 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Broad ribs, Iliac crest serration, Rhizomelia, Hypoplasia of... |
ORPHA:239 |
| Peho Syndrome |
|
Tented upper lip vermilion, Tapered finger, Optic atrophy, Hypsarrhythmia, Open mouth, Retrognath... |
OMIM:260565 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Optic nerve hypoplasia, Brachycephaly, Lambdoidal craniosynostosis, Spina bifida oc... |
OMIM:618736 |
| Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Pyloric stenosis, Brachycephaly, Abnormal shape of the occiput, Malar flattening... |
OMIM:218350 |
| Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... |
ORPHA:2302 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hypoplasia of the odontoid proce... |
OMIM:184250 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Frontal bossing, Depressed nasal bridge, Preaxial hand polydactyly, Foot po... |
ORPHA:210548 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Depressed nasal bridge, Osteomalacia, Coxa valga, Avascular necrosis of the capital f... |
ORPHA:1901 |
| Cousin Syndrome |
|
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... |
OMIM:260660 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing... |
OMIM:250220 |
| Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Congenital hip dislocation, Anteverted nares, Limited elbow movement, Micrognathi... |
OMIM:615065 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Generalized joint laxity, Protruding ear, High palate, Low-set, posteriorly rotated ears, Microre... |
ORPHA:2953 |
| Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Hamartoma of tongue, Short toe,... |
OMIM:269860 |
| Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Papilledema, Abnormal hand morphology, Osteolysis involving bones of the upper limbs,... |
ORPHA:371428 |
| Lesch-Nyhan Syndrome |
|
Gout |
ORPHA:510 |
| Distal Deletion 3P |
|
Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Postaxial hand polydactyly, Br... |
ORPHA:1620 |
| Keutel Syndrome |
|
Sinusitis, Cartilaginous ossification of nose, Deep philtrum, Emphysema, Depressed nasal bridge, ... |
OMIM:245150 |
| Orofaciodigital Syndrome Type 6 |
|
Apnea, Episodic tachypnea, Micrognathia, Preaxial polydactyly, Finger clinodactyly, Lobulated ton... |
ORPHA:2754 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Intestinal malrotation, Brachycephaly, Genu valgum, Wide mouth, EEG abnormality, Pos... |
OMIM:617798 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... |
OMIM:601455 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, High palate, Clinodactyly of the 5th finger, Micro... |
ORPHA:570 |
| Carpenter Syndrome 2 |
|
High, narrow palate, Preaxial polydactyly, Brachycephaly, Coxa vara, Protruding ear, Knee flexion... |
OMIM:614976 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Frontal bossing, Anteverted nares, Abnormal ... |
ORPHA:884 |
| Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
| Adnp Syndrome |
|
Respiratory distress, Abnormal finger morphology, Brachycephaly, Protruding ear, Advanced eruptio... |
ORPHA:404448 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Tapered finger, Long fingers, Calcaneovalgus d... |
ORPHA:521445 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Arthrogry... |
ORPHA:86822 |
| 16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Camptodactyly of finger, Anteverted nares, Cle... |
ORPHA:261236 |
| Trigonocephaly 1 |
|
Craniosynostosis, High, narrow palate, Wide nasal bridge, Long philtrum, Trigonocephaly, Short no... |
OMIM:190440 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Overlapping toe, Anteverted nares, Micrognathia, Carious teeth, Underdeveloped nasal alae, Retrog... |
OMIM:613026 |
| Laron Syndrome |
|
Limb undergrowth, Short long bone |
OMIM:262500 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, Short p... |
ORPHA:2429 |
| Holoprosencephaly 7 |
|
Flat occiput, Hypoplastic nasal septum, Parietal bossing, Median cleft palate, Bilateral cleft li... |
OMIM:610828 |
| Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Joint stiffness, M... |
ORPHA:1915 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Depressed nasal bridge, Anteverted nares, Pneumonia, Recurrent upper respiratory tract infections... |
OMIM:614069 |
| Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Posteriorly rotated ears, Anteverted nares, Pierre-Robin sequence, ... |
OMIM:619980 |
| Hemifacial Microsomia With Radial Defects |
|
Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Microtia, Atresia of... |
OMIM:141400 |
| Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Central apnea, Dental crowding, Brachycephaly |
ORPHA:320385 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Cleft upper lip, Absent thumb, Hypoplasia of the radius, Hand oligod... |
OMIM:602418 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Brachycephaly, Choanal atresia, Craniosynostosis, Midface retrusion |
OMIM:612247 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to... |
ORPHA:989 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
| Rhyns Syndrome |
|
Osteopenia, Radial bowing, Sensorineural hearing impairment, Osteoporosis, Short long bone, Short... |
OMIM:602152 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Thin upper lip vermilion, Brachydactyly, Joint stiffness, Anosmia, Genu valgum, Hypoplasia of the... |
ORPHA:1295 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Frontal bossing, Camptodactyly of finger, Lip pit, Tapered finger, Brachyc... |
ORPHA:1236 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Finger dactylitis, Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalize... |
ORPHA:85436 |
| Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Micrognathia, Narrow palate, Femoral bowing, Macroglossia, Short long bone, Broad rib... |
OMIM:617022 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the h... |
ORPHA:3320 |
| Distal Deletion 12Q |
|
Micrognathia, High, narrow palate, Brachycephaly, Aplasia/Hypoplasia of the middle phalanx of the... |
ORPHA:96149 |
| Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Aplasia/Hypoplasia of the tongue, Facial palsy, Micrognathia, Pierre-Robin sequ... |
ORPHA:1358 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Brachycephaly, Cleft palate, Plagiocephaly, High palate, Tooth malposition |
OMIM:618603 |
| Dent Disease 1 |
|
Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... |
OMIM:300009 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Frontal bossing, Arachnodactyly, Dental crowding, Sandal gap, Intestinal malrotation, Carious tee... |
OMIM:617602 |
| Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Osteopenia, Short metacarpal, Abnormal trabecular bone morphology, Abn... |
ORPHA:221008 |
| Anauxetic Dysplasia 3 |
|
Short metacarpal, Depressed nasal bridge, Joint hypermobility, Hip subluxation, Wide anterior fon... |
OMIM:618853 |
| Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Frontal bossing, Posteriorly rotated ears, A... |
OMIM:247200 |
| Joubert Syndrome 18 |
|
Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Cleft palate, Lobu... |
OMIM:614815 |
| Systemic Lupus Erythematosus |
|
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis |
OMIM:152700 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Increased density of long bones, Tibial bowing, Hypoplasia of fi... |
OMIM:269150 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Microretrognathia, Mandibular prognathia, Frontal bossing, Turricephaly, Aganglionic megacolon, T... |
OMIM:613603 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Central apnea, Dental crowding, Brachycephaly |
OMIM:615031 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Osteopenia, Choanal atresia, Cleft upper lip, Sensorineural hearing impairment, Anosmia, Cleft pa... |
OMIM:147950 |
| Schnitzler Syndrome |
|
Skin rash, Arthritis, Increased bone mineral density, Bone pain |
ORPHA:37748 |
| Mosaic Trisomy 8 |
|
Frontal bossing, Wide nose, Abnormal pinna morphology, Camptodactyly of finger, Anteverted nares,... |
ORPHA:96061 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Joint laxity, Frontal bossing, Exaggerated cupid's bow, Depressed nasal bridge, Cleft lip, Deep p... |
OMIM:620098 |
| Humeroradial Synostosis |
|
Humeroradial synostosis, Brachycephaly, Wide nasal bridge, Microtia, Small earlobe |
OMIM:236400 |
| Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Conductive hearing impairment, Access... |
OMIM:277170 |
| Alkaptonuria |
|
Arthropathy, Vertebral fusion, Limited shoulder movement, Arthritis, Limited hip movement, Limita... |
OMIM:203500 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Frontal bossing, Neonatal respiratory distress, Dental crowding, Anteverted nares, Depressed nasa... |
OMIM:619005 |
| 7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Micrognathia, Brachycephaly, Abnormal optic disc morphology, Short philtr... |
ORPHA:96121 |
| Ravine Syndrome |
|
Apnea, Abnormal auditory evoked potentials |
ORPHA:99852 |
| Nail-Patella Syndrome |
|
Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, K... |
ORPHA:2614 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Frontal bossing, Tented upper lip vermilion, Broad hallux, Anteverted nares, Depressed nasal brid... |
OMIM:614105 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Brachycephaly, Multifocal epileptiform discharges, Respiratory failure, EEG with abnormally slow ... |
ORPHA:70472 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Microretrognathia, Neonatal respirat... |
ORPHA:457193 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Irregular dentition, Swan neck-like deformities of the fingers, Arachnodactyly, Elbow contracture... |
OMIM:615656 |
| Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Wide nose, Cleft upper lip, Rib fusion, Brachycephaly, Cleft p... |
ORPHA:1394 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz... |
OMIM:618019 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Respiratory insuffic... |
ORPHA:70 |
| Orofaciodigital Syndrome Iii |
|
Postaxial hand polydactyly, Supernumerary tooth, Bulbous nose, Tongue nodules, Postaxial foot pol... |
OMIM:258850 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxi... |
OMIM:263520 |
| 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 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Micrognathia, Flexion contracture, Knee flexion contracture, Downturned corners of mouth, High pa... |
OMIM:300868 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Limited elbow movement, Hypoplasia of the odontoid process, Pierre-Robin se... |
OMIM:183900 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Congenital hip dislocation, Dolichocephaly, Pyloric st... |
ORPHA:457279 |
| Felty Syndrome |
|
Rheumatoid arthritis |
OMIM:134750 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con... |
OMIM:271640 |
| Mend Syndrome |
|
Overlapping toe, Broad hallux, Abnormal auditory evoked potentials, Asymmetry of the mouth, Micro... |
ORPHA:401973 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Arachnodactyly, Brachycephaly, Plagiocephaly, Low-set ears, Toe clinodactyly, Clinodactyly of the... |
OMIM:619910 |
| Mietens Syndrome |
|
Hypoplasia of the ulna, Wide nose, Coxa valga, Metatarsus adductus, Avascular necrosis of the cap... |
ORPHA:2557 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Brachycephaly, Downtur... |
OMIM:619950 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Postaxial hand polydactyly, Long philtrum, Short nose, Abnormal palate morphology |
ORPHA:1389 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Posteriorly rotated ears, Rocker bottom foot, Postaxial polydactyly, ... |
OMIM:617527 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Nephritis, Gout |
OMIM:162000 |
| 14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Posteriorly rotated ears, Micrognathia, U... |
ORPHA:264200 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Frontal bossing, Anal stenosis, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridg... |
OMIM:614080 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Arthritis, Conjunctivitis, Skin rash, Uveitis |
OMIM:120100 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Coxa vara, Tibial bowing, Protruding ear, Reduced bone mineral density, High palate, Hypoplastic ... |
ORPHA:93315 |
| Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Horner syndrome, Microtia, Short ... |
OMIM:141300 |
| Gm1 Gangliosidosis Type 1 |
|
Frontal bossing, Depressed nasal bridge, Spatulate ribs, Broad nasal tip, Macrotia, Gingival over... |
ORPHA:79255 |
| Primrose Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Brachycephaly, Knee flexion contracture, Downturn... |
OMIM:259050 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Uplifted earlobe, Brachycephaly, Short philtrum, Widely spaced teeth, Conductive hearing impairme... |
OMIM:280000 |
| 3Q29 Microdeletion Syndrome |
|
Dental crowding, Prominent nasal bridge, Tapered finger, Abnormality of the dentition, Orofacial ... |
ORPHA:65286 |
| Acromesomelic Dysplasia 1 |
|
Joint laxity, Frontal bossing, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypo... |
OMIM:602875 |
| Craniolenticulosutural Dysplasia |
|
Osteopenia, High palate, Bifid uvula, Joint laxity, Anteverted nares, Wide anterior fontanel, Wid... |
OMIM:607812 |
| Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapula... |
ORPHA:958 |
| X-Linked Intellectual Disability, Armfield Type |
|
Mandibular prognathia, Depressed nasal bridge, Micrognathia, Small hand, Brachycephaly, Cleft pal... |
ORPHA:85276 |
| Frontofacionasal Dysplasia |
|
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Depressed nasal ... |
ORPHA:1791 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Anteverted nares, Depressed nasal bridge, Facial palsy, Tapered finger, Micrognathia, Trismus, Se... |
OMIM:254940 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Syndactyly, Anteverted ears, Multifocal epileptiform discharges, Clinodact... |
OMIM:618087 |
| Pfapa Syndrome |
|
Arthritis, Infectious encephalitis |
ORPHA:42642 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Wide anterior fontanel, Respiratory failure, Optic disc pallor, Death in infancy |
OMIM:618240 |
| Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Respiratory ... |
OMIM:608647 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Arthritis, Crescentic glomerulonephritis |
OMIM:616414 |
| Donnai-Barrow Syndrome |
|
Posteriorly rotated ears, Intestinal malrotation, Depressed nasal bridge, Broad nasal tip, Wide a... |
OMIM:222448 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Frontal bossing, Arachnodactyly, Apnea, Micrognathia, Thin calvarium, Short nose, Midface retrusion |
ORPHA:1129 |
| Postaxial Acrofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi... |
ORPHA:246 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Frontal bossing, Rhizomelia, Elbow contracture, Allergic rhinitis, Asthma, 2-3 toe syndactyly, Kn... |
OMIM:618162 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,... |
ORPHA:957 |
| Frontometaphyseal Dysplasia |
|
Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Oligodontia, Conduc... |
ORPHA:1826 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi... |
OMIM:601356 |
| Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Split foot |
OMIM:601349 |
| Felty Syndrome |
|
Episcleritis, Pericarditis, Sinusitis, Abnormal joint morphology, Limitation of joint mobility, R... |
ORPHA:47612 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Micrognathia, Broad nasal tip, 2-3 toe syndactyly, Cleft palate, Microtia, Short... |
OMIM:239800 |
| Sapho Syndrome |
|
Osteomyelitis, Psoriasiform dermatitis, Recurrent fractures, Acne, Skin rash, Pustule, Abnormal s... |
ORPHA:793 |
| 7Q31 Microdeletion Syndrome |
|
Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Hypoplasia of the cochlea, Asthma, C... |
ORPHA:251061 |
| Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... |
ORPHA:33110 |
| Autosomal Dominant Spastic Paraplegia Type 36 |
|
Arthritis |
ORPHA:320365 |
| Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Abno... |
ORPHA:2588 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Anteverted nares, Depressed nasal bridge, Sensorineural hearing impairment, Wide nasa... |
OMIM:616430 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Craniosynostosis, Coxa valga, Brachycephaly, Hypoplastic vertebral bodies, Plagiocephaly, Clinoda... |
ORPHA:2163 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Facial palsy, Restrictive ventilatory defect, Respiratory fail... |
ORPHA:98913 |
| Cog1-Cdg |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Osteopenia, Rhizomelia, Coxa valga, ... |
ORPHA:263508 |
| Hunter-Macdonald Syndrome |
|
Epiphyseal dysplasia, Thin upper lip vermilion, Metatarsus adductus, Conductive hearing impairmen... |
OMIM:611962 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Thin upper lip vermilion, Frontal bossing, Anteverted nares, Prominent nasal bridge, Optic atroph... |
OMIM:608688 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Tongue atrophy, Talipes equinovarus |
ORPHA:496689 |
| Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Asymmetry ... |
OMIM:619124 |
| 8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Prominent nasal bridge, Proximal placement of thumb, Tapered finger, Extern... |
ORPHA:251071 |
| Moderate Hemophilia A |
|
Arthropathy, Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joi... |
ORPHA:169805 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Depressed nasal bridge, Joint stiffness, Micrognathia, Wide nasa... |
ORPHA:2062 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Limb undergrowth, Limited elbow extension, Bowing of the legs |
ORPHA:156728 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Cleft lip, Osteoporosis, Anosmia, Cleft palate, Bifid nose, Hyposmia, Clinodactyly |
OMIM:614838 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Bilateral conductiv... |
OMIM:617802 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose, Micrognathia, High palate, Long philtrum |
ORPHA:2598 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Frontal bossing, Sandal gap, Abnormal dental enamel morphology, Depressed nasal bridge, Cleft pal... |
ORPHA:1812 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Continuous spike and waves during slow sleep, Short nose, EEG with centrotemporal focal spike waves |
OMIM:245570 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Micrognathia, Prominent nose, Brachycephaly, Protruding ear, Widely spaced... |
OMIM:612474 |
| Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Deep philtrum, High palate, Cl... |
OMIM:115150 |
| Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Recurrent fractures, Rocker bottom foot, Micrognathia, Prominent nose, Multifocal ... |
ORPHA:453510 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Death in infancy, Multiple rib fractures, Femur fracture, Re... |
OMIM:612301 |
| Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, R... |
OMIM:619636 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Arthropathy, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Clubb... |
OMIM:259100 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the middle ear ossicles, Preaxial hand polydactyl... |
ORPHA:2549 |
| Alpha-Mannosidosis |
|
Bowing of the long bones, Delayed skeletal maturation, Arthritis, Chronic otitis media, Avascular... |
ORPHA:61 |
| Dpm1-Cdg |
|
Tented upper lip vermilion, Sandal gap, Depressed nasal bridge, Flat occiput, Micrognathia, Trigo... |
ORPHA:79322 |
| Branchiootorenal Syndrome 1 |
|
Branchial cyst, Congenital hip dislocation, High palate, Conductive hearing impairment, Microdont... |
OMIM:113650 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Diastema, ... |
OMIM:300534 |
| Cardioacrofacial Dysplasia 2 |
|
Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Postax... |
OMIM:619143 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Recurrent fractures, Persistence of primary teeth, Abnormality of the dentition, Micrognathia, Cr... |
ORPHA:2785 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Dental crowding, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Broad hallux, ... |
OMIM:301044 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Hip dislocation, Wide nasal bridge, High palate, Limb undergrowth, Joint contracture,... |
OMIM:618005 |
| Lig4 Syndrome |
|
Micrognathia, Malabsorption, Wide nasal bridge, Brachycephaly, Thin vermilion border, Biparietal ... |
ORPHA:99812 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Bronchiectasis, Arthritis, Recurrent otitis media, Chronic sinusitis |
ORPHA:397596 |
| Usher Syndrome Type 1 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Abnormal ... |
ORPHA:231169 |
| Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the... |
ORPHA:193 |
| Bardet-Biedl Syndrome 8 |
|
Brachycephaly, Postaxial polydactyly |
OMIM:615985 |
| Isotretinoin Syndrome |
|
Depressed nasal bridge, Micrognathia, Cleft palate, Microtia, Biparietal narrowing, Spina bifida ... |
ORPHA:2305 |
| Renpenning Syndrome 1 |
|
Mandibular prognathia, Micrognathia, Brachycephaly, Protruding ear, High palate, Short philtrum, ... |
OMIM:309500 |
| Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Abnormal palate morphology, Short nose, Bilateral choa... |
ORPHA:1200 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Micrognathia, 2-3 toe cutaneous syndactyly, Laryngotracheomalacia, Short philtrum, Clinodactyly o... |
OMIM:618454 |
| Adenylosuccinase Deficiency |
|
Thin upper lip vermilion, Anteverted nares, Brachycephaly, Wide mouth, Low-set ears, Long philtru... |
OMIM:103050 |
| Adult-Onset Still Disease |
|
Pericarditis, Skin rash, Cartilage destruction, Myocarditis, Hepatitis, Arthritis, Joint swelling |
ORPHA:829 |
| Vexas Syndrome |
|
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... |
OMIM:301054 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Frontal bossing, Bowed humerus, Short lingual frenulum, Posteriorl... |
OMIM:619479 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Frontal bossing, Hypopl... |
OMIM:615349 |
| Idiopathic Camptocormia |
|
Abnormal inflammatory response, Osteoarthritis, Myelitis, Myositis |
ORPHA:1320 |
| Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Mandibular prognathia, Tented upper lip vermilion, High, narrow pala... |
ORPHA:488632 |
| Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Rectal prolapse, Protruding ear, ... |
OMIM:303600 |
| White-Sutton Syndrome |
|
Joint laxity, Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Broad n... |
ORPHA:468678 |
| Tetrasomy 18P |
|
Low-set, posteriorly rotated ears, Large hands, Thin vermilion border, Narrow mouth, Short nose, ... |
ORPHA:3307 |
| Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Cleft upper lip, Micrognathia, Flexion contracture, Depressed nasal ridge, Clef... |
OMIM:312150 |
| Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Frontal bossing, Median cleft lip, Sandal gap, Aganglionic megacolon, P... |
OMIM:174300 |
| Rheumatoid Arthritis |
|
Swan neck-like deformities of the fingers, Joint stiffness, Joint swelling, Polyarticular arthrit... |
OMIM:180300 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra... |
OMIM:151050 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Multiple prenatal fractures, Flexion contracture, Respiratory fail... |
OMIM:616867 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... |
ORPHA:2658 |
| Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
| Say Syndrome |
|
Ulnar deviation of the 3rd finger, Tapered finger, Micrognathia, Cleft palate, Macrotia, Short di... |
OMIM:181180 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Asthma, Flexion contracture, Small hand, Brachycephaly, Short foot, Plagiocephaly, Hip dysplasia,... |
ORPHA:500055 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Respiratory insufficiency, Short long bone, Horizontal ribs, Brachydactyly |
OMIM:615633 |
| Dermotrichic Syndrome |
|
Frontal bossing, Depressed nasal bridge, Aganglionic megacolon, EEG abnormality, Short nose, Macr... |
ORPHA:99688 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
| Cockayne Syndrome B |
|
Mandibular prognathia, Slender nose, Abnormal pinna morphology, Prominent nasal bridge, Delayed e... |
OMIM:133540 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of the ulna, Hamartoma of ... |
OMIM:613091 |
| Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Enlarged interphalangeal joints, Proximal placement of thumb, ... |
ORPHA:2988 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Anteriorly placed anus, Thickened helices, Cloverleaf skull, Anteverted nar... |
ORPHA:1555 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Rib segmentation abnormalities, Anteverted ... |
ORPHA:2311 |
| Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Anteverted nares, Prominent nasal bridge, Narrow mouth... |
OMIM:615663 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Brachycephaly, Protruding ear, Posterior plagiocephaly, High palate, Bifid... |
OMIM:620330 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
| Coffin-Siris Syndrome 1 |
|
Conical tooth, Brachycephaly, Prominent interphalangeal joints, Short philtrum, High palate, Clin... |
OMIM:135900 |
| Trisomy 18 |
|
Low-set, posteriorly rotated ears, Microretrognathia, Camptodactyly of finger, Choanal atresia, D... |
ORPHA:3380 |
| Congenital Myopathy 13 |
|
Hypercapnia, Micrognathia, Flexion contracture, Brachycephaly, Cleft palate, Downturned corners o... |
OMIM:255995 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Avascular necrosis of the capital femoral epiphysis, Arthritis, Cervical subluxation, Knee pain |
OMIM:184100 |
| Leigh Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Respiratory insufficiency, Respiratory failure, ... |
OMIM:256000 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Mandibular prognathia, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prom... |
OMIM:300912 |
| Menke-Hennekam Syndrome 1 |
|
Short ear, Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, Protruding ea... |
OMIM:618332 |
| 3Mc Syndrome 2 |
|
Prominence of the premaxilla, Joint hypermobility, Hearing impairment, Cleft upper lip, Limited e... |
OMIM:265050 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Flat occiput, Micrognathia, Prominent nose, Downturned corners of mouth, Hi... |
ORPHA:177907 |
| Aica-Ribosiduria |
|
Wide mouth, Thin upper lip vermilion, Brachycephaly, Low-set ears |
ORPHA:250977 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Brachycephaly, Tented upper lip vermilion, Talipes equinovarus, Long philtrum |
OMIM:619972 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Sandal gap, Anteverted nar... |
OMIM:612530 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Osteopenia, Mandibular prognathia, Dental crowding, Metaphyseal widening, High palate, Clinodacty... |
OMIM:620083 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Respiratory failure, Stillbirth, Tongue fasciculations, Death in childhood, Neo... |
OMIM:614922 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Limb joint contracture, Tapered finger, Flexion contracture, Gingival ... |
OMIM:301072 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Humeroradial synostosis, Absent ve... |
OMIM:134780 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Micrognathia, Flexion contracture, Bifid uvula, Dislocated radial head, Long toe, Joi... |
OMIM:130070 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Short philtrum, Joint contracture of the 5th finger, Clinodactyly of the 5th finger, ... |
ORPHA:363611 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
| Fetal Valproate Spectrum Disorder |
|
Narrow mouth, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Long phi... |
ORPHA:1906 |
| Distal Duplication 17Q |
|
Hallux valgus, Thin upper lip vermilion, Low-set, posteriorly rotated ears, Joint laxity, Overlap... |
ORPHA:3379 |
| Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Prominent nasal bridge, Short toe, Wide nasal bridge, Orofacial cleft, Brachyc... |
ORPHA:1519 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... |
ORPHA:2502 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Generalized joint laxity, Brachycephaly, Protruding ear, High palate, Abnormal duodenum morpholog... |
OMIM:601776 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ab... |
ORPHA:3472 |
| Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Flexion contracture, Brachycephaly, Downturned corners of mouth, Small earlobe, Par... |
OMIM:264090 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Protruding ear, Downturned corners of mouth, Short philtrum, Emphysema... |
ORPHA:500150 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Abnormal rib morphology, Orofacial... |
ORPHA:77301 |
| Xylt1-Cdg |
|
Joint laxity, Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Thick vermilion borde... |
ORPHA:370930 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Flat occiput, Brachycephaly |
ORPHA:2898 |
| Eosinophilic Fasciitis |
|
Arthritis, Fasciitis, Myositis |
ORPHA:3165 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Depressed nasal bridge, Micrognathia, Narrow mouth, Optic atrophy, Wide nasal bridge, Plagiocepha... |
OMIM:613457 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Metaphyseal widening, Death in childhood, Progressive alveolar ridge hy... |
OMIM:252500 |
| Hemochromatosis, Type 2A |
|
Arthritis |
OMIM:602390 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Vertebral fusion, Frontal bossing, Dental crowding, Optic atrop... |
ORPHA:313892 |
| Achard Syndrome |
|
Joint laxity, Arachnodactyly, Micrognathia, Broad skull, Brachycephaly |
OMIM:100700 |
| Poikiloderma With Neutropenia |
|
Joint laxity, Frontal bossing, Depressed nasal bridge, Joint stiffness, Carious teeth, Micrognath... |
OMIM:604173 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Camptodactyly of finger, Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
| 9Q21.13 Microdeletion Syndrome |
|
Wide nasal ridge, Craniosynostosis, Abnormal tongue morphology, Downturned corners of mouth, Hip ... |
ORPHA:531151 |
| Intellectual Developmental Disorder, X-Linked 1 |
|
Brachycephaly |
OMIM:309530 |
| Orofaciodigital Syndrome Type 10 |
|
Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ... |
ORPHA:2756 |
| Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Thin upper lip vermilion, Brachycephaly, Plagiocephaly, High palate, Interictal epileptiform acti... |
OMIM:618862 |
| Wild Type Abeta2M Amyloidosis |
|
Arthropathy, Arthritis |
ORPHA:85446 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Thin upper lip vermilion, Tented upper lip vermilion, Prominent nose, Brachycephaly, High palate,... |
OMIM:619244 |
| Tarp Syndrome |
|
Apnea, Micrognathia, Glossoptosis, Small earlobe, Low-set, posteriorly rotated ears, Finger synda... |
ORPHA:2886 |
| Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... |
OMIM:137550 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Myositis, Maculopapular exanthema, Skin rash, Oligoarthritis, Bone pain, Polyarticular arthritis,... |
OMIM:142680 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Depressed nasal ridge, Brachycephaly, Orofacial cleft, High palate, Conductive hearing impairment... |
OMIM:607872 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose, Thick vermilion border, Abnormal pattern of respiration, Long philtrum |
ORPHA:833 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Flat occiput, Posteriorly rotated ears, Preaxial hand po... |
ORPHA:2211 |
| Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Joint stiffness, Cartilage destruction, Pustule, Enthesitis, Arthrit... |
ORPHA:29207 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
| Zttk Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Protruding ear, Downturned corners of mouth, High... |
OMIM:617140 |
| Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Brachycephaly, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, ... |
OMIM:268300 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Craniosynostosis, Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Furrowe... |
ORPHA:453499 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Optic disc pallor, Intermittent hyperventilation, Prominent nasal bridge, Optic nerve hypoplasia,... |
OMIM:300749 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Wide nose, Tracheomalacia, Micrognathia, Aglossia, Cleft palate, Low-set ea... |
OMIM:202650 |
| Zika Virus Disease |
|
Maculopapular exanthema, Ankle swelling, Skin rash, Wrist swelling, Arthritis, Conjunctivitis, In... |
ORPHA:448237 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Sensorineural hearing impairment, Rickets, Hypo... |
OMIM:241520 |
| Omodysplasia 1 |
|
Micrognathia, Limited elbow flexion, Short tibia, Increased fibular diameter, Rhizomelia, Depress... |
OMIM:258315 |
| Familial Cold Urticaria |
|
Arthritis, Conjunctivitis |
ORPHA:47045 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Depressed nasal bridge, Broad nasal tip, Cleft lip, Cupped ear, Brachycephaly, Narrow palate, Cle... |
OMIM:618223 |
| Gapo Syndrome |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Facial palsy, Micrognathia, High, narr... |
OMIM:230740 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Protrudi... |
ORPHA:261144 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Arachnodactyly, Anteverted nares, Depressed nasal bridge, Dolichocephaly, Abnormal thumb morpholo... |
ORPHA:2719 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy, Talipes equinovarus |
OMIM:616155 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Teebi-Shaltout Syndrome |
|
High, narrow palate, Oligodontia, Small earlobe, Prominent palatine ridges, Caudal appendage, Syn... |
OMIM:272950 |
| Toriello-Carey Syndrome |
|
Neonatal respiratory distress, Aganglionic megacolon, Abnormal pinna morphology, Hearing impairme... |
ORPHA:3338 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of the philtrum, Non-midline cleft lip, Cleft pala... |
ORPHA:1770 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Convex nasal ridge, Abnormal fingertip morphology, Abnormali... |
ORPHA:90154 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Flat occiput, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Pr... |
ORPHA:534 |
| Larsen Syndrome |
|
Short metatarsal, Conductive hearing impairment, Spina bifida occulta, Hypoplastic cervical verte... |
OMIM:150250 |
| Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca |
OMIM:617321 |
| Graft Versus Host Disease |
|
Dupuytren contracture, Fasciitis, Myositis, Acute hepatitis, Limited elbow movement, Maculopapula... |
ORPHA:39812 |
| 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 |
| Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Reduced forced vital capacity, Achilles tendon contracture, Recurrent pneumoni... |
OMIM:620249 |
| Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Posterior plagiocephaly, Oligodontia, Widely spaced teeth, Short 4th toe, Ad... |
OMIM:615873 |
| Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:270150 |
| Mogs-Cdg |
|
Respiratory distress, Absent brainstem auditory responses, Wide nose, Hypoventilation, Apnea, Sen... |
ORPHA:79330 |
| Kabuki Syndrome 2 |
|
Micrognathia, Protruding ear, High palate, Prominent fingertip pads, Joint laxity, Short columell... |
OMIM:300867 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, Large fleshy ears, High palate, Prominent superior crus of antihelix,... |
ORPHA:280633 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Clubbing, Respiratory... |
OMIM:265120 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:612370 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
| Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... |
OMIM:311200 |
| 3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Craniosynostosis, Abnormality of the dentition, Deep philtrum, Wide n... |
ORPHA:251038 |
| Geleophysic Dysplasia 2 |
|
Thin upper lip vermilion, Joint stiffness, Limitation of joint mobility, Respiratory insufficienc... |
OMIM:614185 |
| Fg Syndrome 5 |
|
Depressed nasal bridge, Anteverted nares, Diastema, Long philtrum, Trigonocephaly, Short nose |
OMIM:300581 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Clinodactyly of the 5th finger, Optic atrophy, Brachycephaly |
ORPHA:1173 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Congenital hip dislocation, Anteverted nares, Broad nasal tip, Carious teeth, Generalized joint l... |
ORPHA:357074 |
| Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... |
OMIM:225500 |
| Microphthalmia, Syndromic 6 |
|
Uplifted earlobe, Micrognathia, Brachycephaly, Protruding ear, High palate, Clinodactyly of the 5... |
OMIM:607932 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Joint laxity, Tented upper lip vermilion, Facial palsy, Pneumonia, Flexion contracture, Abnormal ... |
ORPHA:98905 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Short nose, Macrotia |
OMIM:620292 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Optic atrophy, Hip dysplasia, Short ... |
ORPHA:496790 |
| Cinca Syndrome |
|
Skin rash, Arthritis, Patellar overgrowth, Uveitis |
OMIM:607115 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Dec... |
ORPHA:955 |
| Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Acne, Inflammatory abnormality of the skin, Pustul... |
ORPHA:77297 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Micrognathia, Downturned corners of mouth, Glossoptosis, High palate, Aspiration pneumonia, Condu... |
ORPHA:444077 |
| Auriculocondylar Syndrome 3 |
|
Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ... |
OMIM:615706 |
| Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Wide mouth, Overfolded helix, Brachycephaly |
OMIM:616083 |
| Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Conductive hearing impairment, Clinodactyly... |
ORPHA:264450 |
| Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Dental crowding, Micrognathia, Prominent nose, Anteriorly placed anu... |
OMIM:305450 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Branchial fistula, Arachnodactyl... |
ORPHA:261330 |
| Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metatarsal, Finger clinodacty... |
OMIM:617137 |
| Cockayne Syndrome A |
|
Mandibular prognathia, Hip contracture, Slender nose, Abnormal pinna morphology, Delayed eruption... |
OMIM:216400 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Sensorineural ... |
OMIM:614207 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Postaxia... |
ORPHA:2916 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Rickets, Tooth abscess, Bowing of the legs |
ORPHA:89937 |
| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Brachycephaly, Hypsarrhythmia |
OMIM:309541 |
| Cranioectodermal Dysplasia 2 |
|
Micrognathia, Fused teeth, High palate, Widely spaced teeth, Microdontia, Simple ear, Joint laxit... |
OMIM:613610 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corner... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corner... |
ORPHA:352665 |
| Donnai-Barrow Syndrome |
|
Posteriorly rotated ears, Intestinal malrotation, Depressed nasal bridge, Wide anterior fontanel,... |
ORPHA:2143 |
| Aase-Smith Syndrome I |
|
Death in infancy, Abnormal pinna morphology, Flexion contracture, Cleft palate, Talipes equinovar... |
OMIM:147800 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Retrognathia, Cleft palate, Femoral bow... |
OMIM:616462 |
| Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula... |
OMIM:252600 |
| Ohdo Syndrome, Sbbys Variant |
|
Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Bulbous... |
OMIM:603736 |
| Nicolaides-Baraitser Syndrome |
|
Short lingual frenulum, High, narrow palate, Short metatarsal, Prominent interphalangeal joints, ... |
OMIM:601358 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognathia, Flat ca... |
OMIM:147891 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Micrognathia, Flexion contracture, Depressed nasal ridge, Cleft palate, Increas... |
OMIM:253290 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp... |
OMIM:614299 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph... |
OMIM:154400 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Frontal bossing, Short metacarpal, Dental crowding, Anteverted nares, Depressed nasal bridge, Bro... |
OMIM:617157 |
| Pontocerebellar Hypoplasia, Type 1B |
|
Tongue atrophy, Flexion contracture, Hip dislocation, Respiratory insufficiency, Tongue fascicula... |
OMIM:614678 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Respiratory failure, Vestibular areflexia, Osteopetrosis |
ORPHA:3240 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Short philtrum, Finger sy... |
ORPHA:464738 |
| Hemochromatosis, Type 3 |
|
Arthritis |
OMIM:604250 |
| Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:200400 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
| White-Kernohan Syndrome |
|
Joint laxity, Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed n... |
OMIM:619426 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Apne... |
OMIM:608013 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... |
ORPHA:47 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Anosmia, Osteoporosis, Cleft palate, Genu valgum |
OMIM:614880 |
| Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Productive cough, Wheezing, Recurrent pneumonia, Upper airway obstruction, Respiratory... |
ORPHA:3348 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Micrognathia, Flexion contracture, Osteoporosis, Optic atrophy, Large earlobe, Short nose |
OMIM:615851 |
| Spinocerebellar Ataxia Type 1 |
|
Abnormal nerve conduction velocity, Respiratory failure, Optic atrophy, Abnormality of somatosens... |
ORPHA:98755 |
| Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Arthralgia/arthritis, Osteomyelitis, Pneumonia, Abnormal respi... |
ORPHA:449280 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Non-midline cleft lip, Ectopic anus, Aplasia/Hypoplasia of the radius, Cleft palate |
ORPHA:2476 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Bifid... |
OMIM:603543 |
| Familial Mediterranean Fever |
|
Pericarditis, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Arthritis, Erysipelas, Pancreatitis |
ORPHA:342 |
| Roifman-Chitayat Syndrome |
|
Osteopenia, Short metacarpal, Pneumonia, Short metatarsal, Arthritis |
OMIM:613328 |
| Woolly Hair Nevus |
|
Widely-spaced incisors, Enlarged vestibular aqueduct, Brachydactyly |
ORPHA:79414 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Frontal bossing, Wide nose, Anteverted nares, Abnormal large intestine morp... |
ORPHA:109 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Frontal bossing, Micrognathia, Decreased nerve conduction velocity, Optic atrophy, Short nose, He... |
OMIM:256600 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Rheumatoid arthritis |
ORPHA:79099 |
| Immunodeficiency 68 |
|
Septic arthritis, Lymphadenitis, Recurrent skin infections |
OMIM:612260 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Short long bone, Talipes equinovarus, Death in infancy |
OMIM:618845 |
| Lig4 Syndrome |
|
Prominent nose, Asthma, Brachycephaly, Wide nasal bridge, Clinodactyly of the 5th finger, Chronic... |
OMIM:606593 |
| Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... |
ORPHA:530 |
| Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Triphalangeal thumb, Spina bifida occulta, Abnorma... |
ORPHA:233 |
| Gracile Bone Dysplasia |
|
Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, ... |
OMIM:602361 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Median cleft lip, Depressed nasal bridge, Postaxial polydactyly, Accessory ... |
OMIM:617088 |
| Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Camptodactyly of finger, Eczema, Erythema nodosum, Synovi... |
OMIM:186580 |
| Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala... |
ORPHA:3241 |
| Mandibuloacral Dysplasia |
|
Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, Contractures of t... |
ORPHA:2457 |
| Lathosterolosis |
|
Toe syndactyly, Anteverted nares, Micrognathia, Postaxial hand polydactyly, Osteoporosis, Gingiva... |
OMIM:607330 |
| Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo... |
ORPHA:157215 |
| Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic iliac wing, Short phala... |
OMIM:263650 |
| Hypophosphatasia, Adult |
|
Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t... |
OMIM:146300 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Fi... |
OMIM:164900 |
| Chops Syndrome |
|
Anteverted nares, Hearing impairment, Tracheomalacia, High, narrow palate, Optic atrophy, Downtur... |
OMIM:616368 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Micrognathia, Flexion contracture, Knee flexion contracture, Downtur... |
OMIM:265000 |
| Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Thin upper lip vermilion, Frontal bossing, Anteverted nares, Tapered finger, Short thumb, Wide na... |
OMIM:616728 |
| Wiedemann-Steiner Syndrome |
|
Thin upper lip vermilion, Hyperextensibility at elbow, Aplasia/Hypoplasia of the ribs, Rhizomelia... |
ORPHA:319182 |
| Developmental And Epileptic Encephalopathy 75 |
|
Optic disc pallor, Anteverted nares, Optic atrophy, Wide nasal bridge, Hypsarrhythmia, Short phil... |
OMIM:618437 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Respiratory distress, Aplasia/Hypoplasia involving the nose, A... |
ORPHA:990 |
| Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Postaxial hand polydactyl... |
ORPHA:2752 |
| Lathosterolosis |
|
Toe syndactyly, Anteverted nares, Micrognathia, Postaxial hand polydactyly, Bulbous nose, Gingiva... |
ORPHA:46059 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Abnormal dental enamel morphology, Cleft upper lip, Brachycephaly, Orofacial cleft, Cleft palate,... |
OMIM:601701 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
| Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy |
OMIM:254300 |
| Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Underd... |
ORPHA:894 |
| Costello Syndrome |
|
Hyperextensibility of the finger joints, Posteriorly rotated ears, Anteverted nares, Limited elbo... |
OMIM:218040 |
| Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Anteverted nares, Osteoporosis, Small hand, Brachycephaly, Short foot, Low-... |
OMIM:615273 |
| Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
| Brucellosis |
|
Anterior uveitis, Pericarditis, Osteomyelitis, Pneumonia, Glomerulonephritis, Orchitis, Myocardit... |
ORPHA:1304 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Abnormality... |
ORPHA:476126 |
| Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Anteverted nares, Abnormal morphology of ulna... |
ORPHA:1340 |
| Macrocephaly/Autism Syndrome |
|
Joint laxity, Frontal bossing, Depressed nasal bridge, High palate, Biparietal narrowing, Long ph... |
OMIM:605309 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Optic atrophy, Depressed nasal bridge, Brachycephaly, Low-set ears |
OMIM:612379 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Depressed nasal bridge, Abnormal pinna morphology, Wide anterior fontanel, Dyspnea, Cardiorespira... |
ORPHA:26791 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Arthritis, Osteomyelitis, Septic arthritis |
OMIM:619423 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Thin upper lip vermilion, Central apnea, Progressive flexion contractures, Equinus ... |
ORPHA:522077 |
| Dend Syndrome |
|
Anteverted nares, Hypsarrhythmia, Downturned corners of mouth, Long philtrum, Clinodactyly of the... |
ORPHA:79134 |
| Aspartylglucosaminuria |
|
Mandibular prognathia, Abnormal morphology of ulna, Abnormality of the dentition, Carious teeth, ... |
ORPHA:93 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Anteverted nares, Uplifted earlobe, Recurrent pneumonia, 2-3 toe synd... |
OMIM:616449 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Respiratory failure |
OMIM:619386 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Congenital hip dislocation, Dental crowding, Ankle flexion contracture, Microgna... |
ORPHA:2020 |
| Alg1-Cdg |
|
Respiratory failure, Limitation of joint mobility, Protein-losing enteropathy |
ORPHA:79327 |
| Catel-Manzke Syndrome |
|
Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid uvula, Joint laxit... |
OMIM:616145 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Conical tooth, C... |
OMIM:263750 |
| Gaucher Disease |
|
Osteopenia, Joint dislocation, Increased bone mineral density, Osteomyelitis, Recurrent fractures... |
ORPHA:355 |
| Anti-Glomerular Basement Membrane Disease |
|
Arthritis |
ORPHA:375 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Epiphyseal stippling, Short nose, Joint hemorrhage, Short distal phalanx of finger |
OMIM:277450 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure, Progressive hearing impairment, Interictal epileptifor... |
OMIM:620166 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Restrictive ventilatory defect, Tongue atrophy, Facial palsy, Sensorineural hearing impairment |
OMIM:158900 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Thin upper lip vermilion, Ulnar deviation of the 3rd finger, Proximal placement of thumb, Long fi... |
OMIM:616263 |
| Alg12-Cdg |
|
Proximal placement of thumb, Micrognathia, Posterior plagiocephaly, Short philtrum, Abnormal bone... |
ORPHA:79324 |
| Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Polyarticular arthritis |
OMIM:614204 |
| Fraser Syndrome 2 |
|
Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Rectal atresia, Cutaneous syndactyl... |
OMIM:617666 |
| 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 |
| Anophthalmia Plus Syndrome |
|
Low-set, posteriorly rotated ears, Choanal atresia, Abnormal nasal morphology, Non-midline cleft ... |
ORPHA:1104 |
| Hypoglossia With Situs Inversus |
|
Microglossia, High palate, Hypodontia, Narrow mouth |
OMIM:612776 |
| Lyme Disease |
|
Arthritis, Infectious encephalitis, Joint swelling, Uveitis |
ORPHA:91546 |
| Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Apnea, Micrognathia, Asthma, Tachypnea, Pneumothorax, Cleft palate... |
ORPHA:2257 |
| Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Micrognathia, Tibial bowing, Cone-shaped epiphyses of the phalanges of ... |
OMIM:309350 |
| Muckle-Wells Syndrome |
|
Episcleritis, Skin rash, Camptodactyly of finger, Uveitis, Arthritis, Conjunctivitis, Recurrent a... |
ORPHA:575 |
| Hepatic Veno-Occlusive Disease |
|
Respiratory failure |
ORPHA:890 |
| Spinal Dysplasia, Anhalt Type |
|
Osteoarthritis of the small joints of the hand, Coxa vara |
OMIM:601344 |
| Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi... |
ORPHA:284984 |
| Pachydermoperiostosis |
|
Osteomyelitis, Acne, Seborrheic dermatitis, Limitation of joint mobility, Bone pain, Osteolysis, ... |
ORPHA:2796 |
| 1P36 Deletion Syndrome |
|
Depressed nasal ridge, Brachycephaly, Conductive hearing impairment, Clinodactyly of the 5th fing... |
ORPHA:1606 |
| Jacobsen Syndrome |
|
Flat occiput, Anteverted nares, Depressed nasal bridge, Trigonocephaly, Micrognathia, Missing rib... |
OMIM:147791 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sensorineural hearing imp... |
OMIM:220110 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Den... |
OMIM:619503 |
| Jacobsen Syndrome |
|
Long hallux, Broad columella, Abnormality of the anus, Low-set, posteriorly rotated ears, Broad h... |
ORPHA:2308 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
| Deeah Syndrome |
|
Prominent nasal tip, Death in infancy, Neonatal respiratory distress, Hearing impairment, Malabso... |
OMIM:619004 |
| Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
| Hypoglossia-Hypodactylia |
|
Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia |
OMIM:103300 |
| Micro Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Joint stiffness, Micrognathia, Optic atrophy... |
ORPHA:2510 |
| Pterygium Colli, Isolated |
|
Short nose, Protruding ear |
OMIM:177990 |
| Frontorhiny |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplasti... |
ORPHA:391474 |
| Jaberi-Elahi Syndrome |
|
Depressed nasal bridge, Joint stiffness, Short nose, Optic atrophy, Protruding ear, Talipes equin... |
OMIM:617988 |
| Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowin... |
ORPHA:1652 |
| Cerebrocostomandibular Syndrome |
|
Death in infancy, Neonatal respiratory distress, Tracheomalacia, Micrognathia, Conductive hearing... |
ORPHA:1393 |
| Witteveen-Kolk Syndrome |
|
Glue ear, Proximal placement of thumb, Uplifted earlobe, High, narrow palate, Clinodactyly, Protr... |
OMIM:613406 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Narrow greater sciatic notch, Short palm, Posterior helix pit, Exaggerated... |
OMIM:312870 |
| Solar Urticaria |
|
Abnormal lip morphology, Abnormal tongue morphology |
ORPHA:97230 |
| Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Congenital hip dislocation, High, narrow palate, Clinodactyly of the 5th f... |
ORPHA:373 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Gout |
OMIM:618061 |
| Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Anteverted nares, Depressed na... |
ORPHA:1465 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Bronchiectasis, Arthritis, Crohn's disease |
OMIM:616100 |
| Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Death in infancy, Abnormality of the dentition, Malabsorption, Underde... |
ORPHA:2315 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... |
OMIM:605711 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
EEG with central focal spikes, Broad ribs, Broad metacarpals, Depressed nasal bridge, Tapered fin... |
OMIM:301066 |
| Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Microdontia, Bifid uvula,... |
OMIM:129400 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory failure |
OMIM:613954 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Delayed skeletal maturation, Epididymitis, Prostatit... |
OMIM:307200 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... |
OMIM:300106 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Recurrent upper respiratory tract infections, Tachypnea, Respiratory failur... |
OMIM:263000 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Short lingual frenulum, Posteriorly rotated ears, Bulbous nose, Brachycephaly, Anteriorly placed ... |
OMIM:608980 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Overlapping toe, Arachnodactyly, Micrognathia, Underdeveloped nasal alae, C... |
ORPHA:83617 |
| Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Optic disc coloboma, Aglossia, Choanal sten... |
OMIM:241310 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... |
OMIM:617604 |
| Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis |
ORPHA:54028 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... |
OMIM:609441 |
| Occipital Horn Syndrome |
|
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomal... |
ORPHA:198 |
| Mullegama-Klein-Martinez Syndrome |
|
Micrognathia, Prominent nose, Short philtrum, Clinodactyly of the 5th finger, Bifid uvula, Depres... |
OMIM:301022 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Genu valgum, Orof... |
OMIM:615630 |
| Congenital Myopathy 17 |
|
Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Tapered finger, Dental malocc... |
OMIM:618975 |
| Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
| Van Esch-O'Driscoll Syndrome |
|
Depressed nasal bridge, Esophageal atresia, Tracheoesophageal fistula, Retrognathia, Protruding e... |
OMIM:301030 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
| Branchiootic Syndrome 1 |
|
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the... |
OMIM:602588 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Vertebral fusion, Posteriorly rotated ears, Tarsal synostosis, Elbow contracture... |
OMIM:178110 |
| Mccune-Albright Syndrome |
|
Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Dental malocclusion, Abnormal ... |
ORPHA:562 |
| Diamond-Blackfan Anemia 7 |
|
Osteopenia, Choanal atresia, Short thumb, Osteoporosis, Cleft palate, Atresia of the external aud... |
OMIM:612562 |
| 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 |
| Brittle Cornea Syndrome |
|
Hallux valgus, Arachnodactyly, Abnormality of the dentition, Sensorineural hearing impairment, Os... |
ORPHA:90354 |
| Mixed Connective Tissue Disease |
|
Myositis, Pericarditis, Skin rash, Gastritis, Joint stiffness, Myocarditis, Osteolysis, Arthritis... |
ORPHA:809 |
| Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip |
OMIM:614402 |
| Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Turricephaly, Camptodactyly of finger, Premature loss of primary teeth, Abnorm... |
ORPHA:2907 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Flexion contracture, Arthritis, Finger swelling, Panniculitis, Co... |
OMIM:617591 |
| Complement Factor I Deficiency |
|
Recurrent skin infections, Glomerulonephritis, Pyelonephritis, Recurrent sinusitis, Recurrent oti... |
OMIM:610984 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Flat occiput, Intestinal malrotation, Micrognathia, Bilateral cleft lip and palate, Clinodactyly ... |
ORPHA:2001 |
| Meier-Gorlin Syndrome 7 |
|
Bowing of the legs, Anteriorly placed anus, Copper beaten skull, High palate, Dislocated radial h... |
OMIM:617063 |
| Nijmegen Breakage Syndrome |
|
Anal stenosis, Depressed nasal bridge, Prominent nasal bridge, Prominent nose, Hearing abnormalit... |
ORPHA:647 |
| 1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Frontal bossing, Toe syndactyly, Sensorineural hearing impairment, Bulbous ... |
ORPHA:250989 |
| Viss Syndrome |
|
Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, Brachycephaly, Hi... |
OMIM:619472 |
| Fetal Akinesia Deformation Sequence 1 |
|
Elbow contracture, Micrognathia, High, narrow palate, Congenital contracture, High palate, Wrist ... |
OMIM:208150 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent otitis media, Arthritis, Recurrent sinusitis, Membranous nephropathy |
OMIM:615559 |
| Wilson Disease |
|
Osteomalacia, Joint hypermobility, Osteoarthritis, Atypical or prolonged hepatitis, Osteoporosis,... |
OMIM:277900 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Mandibular prognathia, Death in infancy, Respiratory distress, Respiratory failure, High palate, ... |
OMIM:620278 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Biparietal narrowing, Advanced eruption of teeth, Low-... |
ORPHA:818 |
| Severe Hemophilia A |
|
Limb joint contracture, Limitation of joint mobility, Synovitis, Joint swelling, Progressive join... |
ORPHA:169802 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... |
OMIM:600501 |
| Duplication Of The Pituitary Gland |
|
Abnormality of joint mobility, Supernumerary tooth, Abnormality of the tongue, Cleft palate, Wide... |
ORPHA:314621 |
| Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly... |
OMIM:165590 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Micrognathia, Downturned corners of mouth, Choanal stenosis, Severe sensorineural... |
OMIM:620186 |
| Slc39A8-Cdg |
|
Osteopenia, Sudden episodic apnea, Craniosynostosis, Elbow flexion contracture, Knee flexion cont... |
ORPHA:468699 |
| Pallister-Hall Syndrome |
|
Depressed nasal ridge, Bifid uvula, Low-set, posteriorly rotated ears, Mesoaxial polydactyly, Mic... |
ORPHA:672 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
| Wilson Disease |
|
Acute hepatitis, Bone pain, Hepatitis, Arthritis, Joint swelling, Pathologic fracture |
ORPHA:905 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Arthritis, Peritonitis, Limitation of joint mobility, Recurrent aphthous stomatitis |
ORPHA:343 |
| Stickler Syndrome Type 2 |
|
Cleft palate |
ORPHA:90654 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Facial ... |
OMIM:211530 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
| Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
| Snakebite Envenomation |
|
Epistaxis, Respiratory failure, Respiratory paralysis, Gingival bleeding |
ORPHA:449285 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Tongue atrophy, Optic nerve hypoplasia, Decreased nerve cond... |
ORPHA:101085 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Chronic otitis media, Vertigo, Respiratory failure, Sensorineural hearing impairment |
ORPHA:3226 |
| 3Mc Syndrome 1 |
|
Dental crowding, Single interphalangeal crease of fifth finger, Hearing impairment, Cleft upper l... |
OMIM:257920 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy |
ORPHA:216873 |
| Tetraamelia Syndrome 2 |
|
Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate |
OMIM:618021 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Rickets, Death in adolescence, Death in childhood, Hearing impairment |
OMIM:560000 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Joint laxity, Hip contracture, Microretrognathia, Overlapping toe, Rocker bottom foot, Hearing im... |
ORPHA:488642 |
| Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Central hypoventilation, Optic atrophy, Apnea |
OMIM:618233 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Gout |
OMIM:617056 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Septic arthritis, Recurrent pneumonia, Eczema |
OMIM:617780 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
| Takayasu Arteritis |
|
Arthritis, Increased inflammatory response, Inflammatory abnormality of the eye |
ORPHA:3287 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Achilles tendon contracture, Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation |
OMIM:603689 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronchiectasis, Uveitis, Th... |
OMIM:614700 |
| Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Frontal bossing, Dow... |
OMIM:109400 |
| Bor Syndrome |
|
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... |
ORPHA:107 |
| Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ... |
ORPHA:206436 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Flexion contracture, EEG with focal sharp waves, Hypsarrhythmia, E... |
ORPHA:79243 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Thin upper lip vermilion, Tapered finger, Underdeveloped nasal alae, Bulbous nose, Wide nasal bri... |
OMIM:615803 |
| Aicardi Syndrome |
|
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Cleft upper lip, Hiatus hern... |
ORPHA:50 |
| Restrictive Dermopathy 1 |
|
Micrognathia, Flexion contracture, Overtubulated long bones, Neonatal death, Depressed nasal brid... |
OMIM:275210 |
| Choreoacanthocytosis |
|
Temporomandibular joint crepitus, Protruding tongue, Arthritis, Abnormal autonomic nervous system... |
ORPHA:2388 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
Arthritis |
OMIM:619825 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi... |
OMIM:184253 |
| Prolidase Deficiency |
|
Depressed nasal bridge, Micrognathia, Asthma, Recurrent pneumonia, Concave nasal ridge, High pala... |
OMIM:170100 |
| Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Xerostomia, Abnormal respiratory sy... |
ORPHA:803 |
| Orofaciodigital Syndrome Type 14 |
|
Low-set, posteriorly rotated ears, Microretrognathia, Broad hallux, Deviation of the hallux, Acce... |
ORPHA:434179 |
| Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Anteverted nares, In... |
ORPHA:2729 |
| Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Pneumonia, Bowing of the legs, Hypoplastic ilia... |
ORPHA:1855 |
| Fanconi Renotubular Syndrome 3 |
|
Rickets, Bowing of the legs |
OMIM:615605 |
| Tibial Muscular Dystrophy |
|
Respiratory failure |
ORPHA:609 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Proximal phalangeal periosteal thickening, Bone pain, Clubbing, Osteolytic defects of the phalang... |
OMIM:161700 |
| Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Respiratory insufficiency due to muscle weakness, Achilles tendon contracture, F... |
OMIM:310200 |
| Pendred Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
| X-Linked Intellectual Disability, Wilson Type |
|
Wide mouth, Brachycephaly, Thick vermilion border, Mandibular prognathia |
ORPHA:85290 |
| Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Absent brainstem auditory responses, Foot joint contracture, Delayed erupt... |
ORPHA:90321 |
| Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure |
ORPHA:352447 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Respiratory failure |
ORPHA:363400 |
| Ogden Syndrome |
|
Congenital hip dislocation, Apnea, Micrognathia, Deep philtrum, Protruding ear, Short philtrum, H... |
OMIM:300855 |
| 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, Clef... |
OMIM:301091 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Flexion contra... |
ORPHA:365 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous... |
ORPHA:93322 |
| Cerebrotendinous Xanthomatosis |
|
Osteopenia, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased n... |
ORPHA:909 |
| Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Intestinal obstruction, Malabsorption, Asthma, Flexion contracture, Retrognathi... |
OMIM:601675 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Flexion contracture, Bone cyst, Osteol... |
ORPHA:3042 |
| Pulmonary Alveolar Microlithiasis |
|
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... |
ORPHA:60025 |
| Hypocomplementemic Urticarial Vasculitis |
|
Joint dislocation, Episcleritis, Skin rash, Uveitis, Arthritis, Conjunctivitis, Inflammatory abno... |
ORPHA:36412 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Septo-optic dysplasia, Uplifted earlobe, Microgna... |
OMIM:619841 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Osteoarthritis |
OMIM:619714 |
| Distal Deletion 15Q |
|
Thin upper lip vermilion, Flat occiput, Hearing impairment, Abnormality of the dentition, Microgn... |
ORPHA:1596 |
| Lethal Congenital Contracture Syndrome 2 |
|
Arthrogryposis multiplex congenita, Respiratory failure, Micrognathia |
OMIM:607598 |
| Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Pseudoepiphyses, Conductive hearing impairment, Joint laxity, Anteverted nares... |
OMIM:157800 |
| Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... |
OMIM:163400 |
| Autoimmune Hepatitis |
|
Viral hepatitis, Glomerulonephritis, Fulminant hepatitis, Thyroiditis, Ulcerative colitis, Arthri... |
ORPHA:2137 |
| Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis, Gout |
ORPHA:411543 |
| Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Iritis |
OMIM:109650 |
| Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U... |
ORPHA:727 |
| Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Limitation of joint mobi... |
ORPHA:728 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Frontal bossing, Dental crowding, Optic nerve dysplasia, Brachycephaly, Plagiocephaly, Short phil... |
OMIM:617296 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Sensorineural hearing impairment, Respiratory failure, Death in childhood |
OMIM:619847 |
| Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Broad hallux, Posteriorly rotated ears, Hamartoma of tongue, Micr... |
OMIM:615948 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Thin upper lip vermilion, Posteriorly rotated ... |
ORPHA:163979 |
| Insulin-Resistance Syndrome Type B |
|
Skin rash, Osteoarthritis, Nephritis, Pneumonia |
ORPHA:2298 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Frontal bossing, Posteriorly rotated ears, Anteverted nares, Micrognathia, Bifid nasal tip, Cleft... |
OMIM:619343 |
| Branchiootic Syndrome |
|
Branchial fistula, Facial palsy, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnorma... |
ORPHA:52429 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Macroglossia, Concave nasal ridge, Mal... |
OMIM:613038 |
| Myopathy, Myofibrillar, 7 |
|
Tongue atrophy, Multiple joint contractures, Limited hip extension, Shoulder flexion contracture,... |
OMIM:617114 |
| Acute Interstitial Pneumonia |
|
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... |
ORPHA:79126 |
| Wolf-Hirschhorn Syndrome |
|
Micrognathia, Orofacial cleft, Downturned corners of mouth, Short philtrum, Conductive hearing im... |
OMIM:194190 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia, Abnormality of the dentition |
OMIM:193100 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Abnormal metacarpophalangeal joint morphology, Joint stiffness, Osteoporosis, Arthri... |
ORPHA:465508 |
| Charge Syndrome |
|
Abnormal tibia morphology, Hypoplasia of the semicircular canal, Abnormality of bone mineral dens... |
ORPHA:138 |
| Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Malabsorption, Tapered finger, Hypogeusia, Furrowed tongue, Hamartomatous p... |
ORPHA:2930 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Brachycephaly, Femoral bowing, Anteriorly placed anus, Choanal stenosis, Conductive hearing impai... |
OMIM:201750 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Neonatal respiratory distress, Intestinal malrotation, Micrognathia, Esophageal atresia, Cleft li... |
OMIM:265380 |
| Meckel Syndrome, Type 5 |
|
Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial fo... |
OMIM:611561 |
| Noonan Syndrome 3 |
|
Frontal bossing, Hypoplastic nasal bridge, Posteriorly rotated ears, Anteverted nares, Sagittal c... |
OMIM:609942 |
| Khan-Khan-Katsanis Syndrome |
|
Frontal bossing, Tented upper lip vermilion, Postaxial polydactyly, Micrognathia, Sensorineural h... |
OMIM:618460 |
| Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Osteomyelitis, Myositis, Pneumonia, Skin rash, Glomerulonephritis, Recurren... |
ORPHA:36234 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... |
ORPHA:183675 |
| Marfan Syndrome |
|
Genu recurvatum, Arachnodactyly, Protrusio acetabuli, Equinus calcaneus, Metatarsus adductus, Pre... |
OMIM:154700 |
| Native American Myopathy |
|
Joint laxity, Micrognathia, Conductive hearing impairment, Cleft palate, Respiratory insufficienc... |
ORPHA:168572 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Prominent nose, Abnormal carpal morphology, Hip dysplasia, Microtia, Limb undergrowth, Clinodacty... |
ORPHA:319675 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma |
OMIM:304790 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Arthritis |
ORPHA:397744 |
| Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ... |
ORPHA:1071 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Hypoventilation, Tongue atrophy, Sensorineural hearing... |
ORPHA:99949 |
| Rheumatic Fever |
|
Pericarditis, Sinusitis, Myocarditis, Endocarditis, Arthritis |
ORPHA:3099 |
| Ramos-Arroyo Syndrome |
|
Respiratory distress, Frontal bossing, Aganglionic megacolon, Anteverted nares, Depressed nasal b... |
ORPHA:1051 |
| Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Phalangeal dislocation, Osteoarthritis, Generalized joint laxity, Hip dislocation, Li... |
ORPHA:287 |
| Immunodeficiency 54 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
| Medullary cystic kidney disease 2 |
|
Tubulointerstitial nephritis, Gout |
OMIM:603860 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Thin upper lip vermilion, Anteverted nares, Low-set ears, Narrow mouth, Overfolded helix, Short nose |
OMIM:613735 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, Hip dislocati... |
ORPHA:285 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Respiratory failure, Nocturnal hypoventilation |
OMIM:620326 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Choanal atresia, Lip pit, Joint stif... |
ORPHA:1300 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Erosion of oral mucosa, Abnormal oral mucosa morphology, Abnormal fingertip... |
ORPHA:79404 |
| Hutchinson-Gilford Progeria Syndrome |
|
Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Coxa valga, Osteoarthr... |
ORPHA:740 |
| Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Prominent nasal bridge, Micrognathia, Optic nerve hypopl... |
OMIM:243605 |
| Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose, Tented upper lip vermilion, Short philtrum |
ORPHA:85277 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Frontal bossing, Posteriorly rotated ears, Abnormal pinna morphology, Anteverted nare... |
OMIM:616975 |
| Overlap Myositis |
|
Subluxation of the small joints of the hand, Limb pain, Finger swelling, Arthritis, Rheumatoid ar... |
ORPHA:206572 |
| Microform Holoprosencephaly |
|
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Choanal atresia, Midnasal sten... |
ORPHA:280200 |
| Reynolds Syndrome |
|
Skin rash, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis |
ORPHA:779 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Anteverted nares, Optic atrophy, Retrognathia, Hypoplasia of teeth, Short nose, Macrotia |
OMIM:234050 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Wide nose, Abnormal dental enamel morphology, Hearing impairment, Micrognat... |
ORPHA:2556 |
| Familial Visceral Myopathy |
|
Low-set, posteriorly rotated ears, Aganglionic megacolon, Arachnodactyly, Camptodactyly of finger... |
ORPHA:2604 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Respiratory failure, Limb joint contracture, Hearing impairment |
OMIM:620327 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Epistaxis, Wheezing, Rickets, Fat malabsorption |
OMIM:211600 |
| Fryns Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Prominent fingertip pads, Broad ribs, Mi... |
OMIM:229850 |
| Bloom Syndrome |
|
Pneumonia, Micrognathia, Esophageal neoplasm, Chronic pulmonary obstruction, Cheilitis, Respirato... |
ORPHA:125 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets, Bilateral sensorineural hearing impairment |
OMIM:602722 |
| Fraser Syndrome |
|
Cleft ala nasi, Dental crowding, Orofacial cleft, High palate, Conductive hearing impairment, Low... |
ORPHA:2052 |
| Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough |
ORPHA:99931 |
| Frontofacionasal Dysplasia |
|
Cleft upper lip, Underdeveloped nasal alae, Brachycephaly, Orofacial cleft, Midline defect of the... |
OMIM:229400 |
| Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis |
ORPHA:411536 |
| Loeys-Dietz Syndrome 3 |
|
Joint laxity, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Eosinophilic infiltration of... |
OMIM:613795 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Prominent nasal bridge, Broad nasal tip, Long nose, Sensorineural hearing impairment, Tooth malpo... |
OMIM:616541 |
| Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Wide nose, Dental crowding, Anteverted nares, Prominent nasal bridge, Abno... |
ORPHA:769 |
| Opitz Gbbb Syndrome |
|
Natal tooth, Posteriorly rotated ears, Anteverted nares, Craniosynostosis, Micrognathia, Cleft li... |
ORPHA:2745 |
| Adiposis Dolorosa |
|
Arthritis, Recurrent skin infections |
ORPHA:36397 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Cleft soft palate, Micrognathia, Wide nasal bridge, Hypoxemia, Microtia, Submuc... |
ORPHA:2282 |
| Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Eczema, Erythroderma |
OMIM:619510 |
| Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Asthma, Sensorineural hearing impairment, Re... |
ORPHA:209905 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Intestinal malrotation, Tachypnea, Esophageal varix, Rickets, Respirato... |
OMIM:613658 |
| Chikungunya |
|
Maculopapular exanthema, Skin rash, Joint stiffness, Erythema nodosum, Crusting erythematous derm... |
ORPHA:324625 |
| Leigh Syndrome |
|
Multiple joint contractures, Sensorineural hearing impairment, Optic atrophy, Hypsarrhythmia, Res... |
ORPHA:506 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
| Pyoderma Gangrenosum |
|
Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine |
ORPHA:48104 |
| Joubert Syndrome 21 |
|
Apnea, Dyspnea, Sensorineural hearing impairment, Optic atrophy, Single naris, Megalopapilla, Res... |
OMIM:615636 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory failure, Respiratory insufficiency, Equinus calcaneus |
ORPHA:746 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Depressed nasal bridge, Sensorineural hearing impairment, Gout, Wide mouth, High palate, Low-set ... |
OMIM:300661 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Aplasia of the nasal bone, Jejunal atresia, Acrania, Ileal atresia, Joint stiffness, ... |
OMIM:618820 |
| Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... |
ORPHA:563 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
| Fucosidosis |
|
Brachycephaly, Hearing impairment, Abnormality of the dentition |
ORPHA:349 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level |
ORPHA:70578 |
| Pallister-Killian Syndrome |
|
Congenital hip dislocation, Tented upper lip vermilion, Micrognathia, Flexion contracture, Anteri... |
OMIM:601803 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Recurrent fractures, Sensorineural hearing impairment, Rickets, Optic atrophy,... |
OMIM:268315 |
| Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis, Pulmonary arteri... |
ORPHA:2396 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Protruding ear, Short philtrum, High palate, Otitis media, Joint laxity, Ant... |
OMIM:619475 |
| Cryoglobulinemic Vasculitis |
|
Arthritis, Keratoconjunctivitis sicca, Viral hepatitis |
ORPHA:91138 |
| Generalized Pustular Psoriasis |
|
Pustule, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma |
ORPHA:247353 |
| Toriello-Lacassie-Droste Syndrome |
|
Aganglionic megacolon, Anteverted nares, Hearing impairment, Abnormality of the ear, Short palm, ... |
ORPHA:3339 |
| Acromegaly |
|
Acne, Macrodactyly, Tapered finger, Osteoarthritis, Joint swelling, Large hands, Cortical diaphys... |
ORPHA:963 |
| Melkersson-Rosenthal Syndrome |
|
Macroglossia, Cheilitis, Furrowed tongue |
ORPHA:2483 |
| Dowling-Degos Disease |
|
Arthritis, Acne inversa |
ORPHA:79145 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure |
OMIM:610678 |
| Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Sensorineural hea... |
OMIM:122880 |
| Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Stiff neck, Abnormal motor nerve conduction v... |
ORPHA:2912 |
| Fusariosis |
|
Fasciitis, Sinusitis, Osteomyelitis, Myositis, Maculopapular exanthema, Pneumonia, Keratitis, Per... |
ORPHA:228119 |
| Branchiooculofacial Syndrome |
|
Proximal placement of thumb, Micrognathia, Conductive hearing impairment, Clinodactyly of the 5th... |
OMIM:113620 |
| Farber Disease |
|
Abnormality of the knee, Short toe, Flexion contracture, Osteoporosis, Abnormality of the elbow, ... |
ORPHA:333 |
| Noonan Syndrome With Multiple Lentigines |
|
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Wide nasal bridge, Brachycep... |
ORPHA:500 |
| Riddle Syndrome |
|
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Arthritis, Restrictive ventilatory defect, Res... |
ORPHA:420741 |
| Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis |
ORPHA:2221 |
| Holoprosencephaly 9 |
|
Depressed nasal bridge, Hypoplasia of the premaxilla, Optic nerve hypoplasia, Cleft upper lip, Hy... |
OMIM:610829 |
| Hyperuricemia, Hprt-Related |
|
Podagra |
OMIM:300323 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose, EEG with multifocal slow activity |
ORPHA:289266 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Long nose, Downturned corners of mouth, High palate, Clinodactyly of the 5th finger, Small earlob... |
OMIM:619522 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Arthritis, Flexion contracture, Osteolysis |
ORPHA:220393 |
| Floating-Harbor Syndrome |
|
Hypoplasia of the maxilla, Long nose, Humeral pseudarthrosis, Oligodontia, Short philtrum, Conduc... |
ORPHA:2044 |
| Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge |
OMIM:200130 |
| Diamond-Blackfan Anemia 8 |
|
Short nose, Thick upper lip vermilion, Wide nasal bridge |
OMIM:612563 |
| Hereditary Xanthinuria |
|
Arthropathy, Rheumatoid arthritis, Gout |
ORPHA:3467 |
| Somatomammotropinoma |
|
Macrodactyly, Tapered finger, Osteoarthritis, Joint swelling, Large hands, Cortical diaphyseal th... |
ORPHA:314769 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
ORPHA:95433 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Optic disc pallor, Respiratory insufficiency due to muscl... |
OMIM:615512 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Bifid nasal tip, Bilateral cleft lip and palate, High palate, Malar fla... |
OMIM:618874 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, ... |
OMIM:615503 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
| Hypercholanemia, Familial 1 |
|
Fat malabsorption, Rickets, Steatorrhea |
OMIM:607748 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Myocarditis, Endocarditis, Arthr... |
ORPHA:183 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Sensorineural hearing impairment, Respiratory failure, Optic atrophy, Respiratory insufficiency |
OMIM:618329 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Rickets |
ORPHA:2088 |
| Mucopolysaccharidosis Type 2 |
|
Limitation of joint mobility, Abnormal epiphyseal ossification, Contractures of the large joints,... |
ORPHA:580 |
| Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Cleft ala nasi, Osteopathia striata, Short metatarsal, Anteriorly pla... |
OMIM:305600 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Respiratory failure, Paroxysmal dyspnea |
ORPHA:444013 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Interstitial pneumonitis, Restrictive ventilatory defect, Respiratory failure, Recurrent upper re... |
OMIM:620296 |
| Hereditary Mucoepithelial Dysplasia |
|
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
| Subcorneal Pustular Dermatosis |
|
Pustule, Rheumatoid arthritis |
ORPHA:48377 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Optic disc pallor, Apnea, Optic neuropathy, Sensorineural hearing impairment, R... |
OMIM:252010 |
| Pediatric Systemic Lupus Erythematosus |
|
Myositis, Skin rash, Discoid lupus rash, Arthritis, Malar rash, Nephritis |
ORPHA:93552 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia... |
ORPHA:306542 |
| Williams Syndrome |
|
Osteopenia, Micrognathia, Rectal prolapse, Protruding ear, Clinodactyly of the 5th finger, Microd... |
ORPHA:904 |
| Whipple Disease |
|
Myositis, Pericarditis, Myocarditis, Uveitis, Arthritis, Infectious encephalitis |
ORPHA:3452 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Abnormal sacroiliac joint morphology, Per... |
ORPHA:32960 |
| Hartsfield Syndrome |
|
Syndactyly, Wide nose, Median cleft lip, Posteriorly rotated ears, Craniosynostosis, Cleft upper ... |
OMIM:615465 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue atrophy, Tongue fasciculations |
OMIM:620285 |
| Glycogen Storage Disease Vii |
|
Gout |
OMIM:232800 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
| Polymyositis |
|
Arthritis, Pericarditis, Chondrocalcinosis |
ORPHA:732 |
| Localized Scleroderma |
|
Fasciitis, Flexion contracture, Uveitis, Arthritis, Esophagitis, Sclerosis of finger phalanx, Has... |
ORPHA:90289 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure, Abnormality of the dentition |
ORPHA:88618 |
| Nephronophthisis 2 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
| Common Variable Immunodeficiency |
|
Pneumonia, Gastrointestinal stroma tumor, Brachycephaly, Bronchiectasis, Restrictive ventilatory ... |
ORPHA:1572 |
| Meckel Syndrome, Type 9 |
|
Limb undergrowth, Talipes equinovarus |
OMIM:614209 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure |
ORPHA:542323 |
| Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Malar flattening, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Short nose |
ORPHA:2835 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Frontal bossing, Everted upper lip vermilion, Depressed nasal bridge, Abnor... |
OMIM:305100 |
| Bazex-Dupre-Christol Syndrome |
|
Narrow nasal ridge, Underdeveloped nasal alae, Furrowed tongue, Joint hypermobility, Low hanging ... |
OMIM:301845 |
| Williams-Beuren Syndrome |
|
Osteopenia, Rectal prolapse, Flexion contracture, Clinodactyly of the 5th finger, Microdontia, Jo... |
OMIM:194050 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Cleft soft palate, Prominent nasal bridge, Tapered finger, Abnormal toe morphology... |
ORPHA:268261 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head |
OMIM:605274 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Clubbing of fingers, Protein-losing... |
OMIM:175500 |
| Treacher Collins Syndrome 2 |
|
Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, An... |
OMIM:613717 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Bradypnea, Respiratory failure, Death in childhood |
OMIM:617186 |
| Meckel Syndrome, Type 1 |
|
Micrognathia, Lobulated tongue, Syndactyly, Cleft upper lip, Postaxial foot polydactyly, Low-set ... |
OMIM:249000 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Cleft soft palate, Optic nerve hypoplasia, Flexion contracture, Optic atr... |
OMIM:619321 |
| Cadds |
|
Sensorineural hearing impairment, Short nose, Micrognathia |
ORPHA:369942 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Joint contracture, Optic atrophy |
OMIM:616881 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... |
ORPHA:99027 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Optic neuropathy, Dyspnea, Optic atrophy, Respiratory insufficiency, Respirator... |
OMIM:610505 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
| 1P21.3 Microdeletion Syndrome |
|
Broad nasal tip, Micrognathia, Wide mouth, Long ear, Short nose, Joint hypermobility |
ORPHA:293948 |
| Distal Renal Tubular Acidosis |
|
Osteomalacia, Respiratory insufficiency due to muscle weakness, Sensorineural hearing impairment,... |
ORPHA:18 |
| Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Fa... |
ORPHA:79138 |
| Congenital Tufting Enteropathy |
|
Arthritis, Punctate keratitis |
ORPHA:92050 |
| Malignant Atrophic Papulosis |
|
Intestinal fistula, Intestinal perforation, Vertigo, Respiratory failure, Pleural effusion |
ORPHA:679 |
| Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:615108 |
| Boutonneuse Fever |
|
Respiratory failure |
ORPHA:83313 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Chronic oral candidiasis, Psoriasiform dermatitis, Clinodactyly of the 2nd finger, Ar... |
ORPHA:221139 |
| Systemic Sclerosis |
|
Abnormal phalangeal joint morphology of the hand, Pericarditis, Osteomyelitis, Recurrent skin inf... |
ORPHA:90291 |
| Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
| Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
| Abetalipoproteinemia |
|
Osteopenia, Respiratory failure, Talipes equinovarus, Steatorrhea, Fat malabsorption |
ORPHA:14 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Sensorineural hearing impairment, Hypopnea, Respiratory failure, Neonata... |
OMIM:617248 |
| Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:607625 |
| Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:611936 |
| Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati... |
ORPHA:3243 |
| Giant Cell Arteritis |
|
Epistaxis, Joint stiffness, Recurrent pharyngitis, Vertigo, Optic atrophy, Arthritis, Cough, Cond... |
ORPHA:397 |
| Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:615109 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Tracheoesophageal fistula, Microtia, High palate, Talipes equinovarus, ... |
OMIM:277380 |
| Listeriosis |
|
Respiratory distress, Stiff neck, Miscarriage, Osteomyelitis, Pneumonia, Respiratory failure, Sep... |
ORPHA:533 |
| Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, ... |
OMIM:300755 |
| Catastrophic Antiphospholipid Syndrome |
|
Myocarditis, Arthritis, Avascular necrosis |
ORPHA:464343 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Respiratory failure, Pneumothorax |
ORPHA:445038 |
| Celiac Disease, Susceptibility To, 1 |
|
Celiac disease, Osteoporosis, Rickets, Recurrent aphthous stomatitis, Steatorrhea, Stomatitis, En... |
OMIM:212750 |
| Lelis Syndrome |
|
Carious teeth, Hypodontia, Furrowed tongue |
ORPHA:140936 |
| Proteus Syndrome |
|
Pulmonary embolism, Abnormal finger morphology, Clinodactyly of the 5th finger, Thick nasal alae,... |
ORPHA:744 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Tongue atrophy, Decreased distal sensory nerve action potential, Reduced vital capacity, Sensorin... |
ORPHA:99956 |
| Chronic Bilirubin Encephalopathy |
|
Central apnea, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Central apnea, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Spontaneous, recurrent epistaxis, Papilledema, Sensorineural hearing impairment, E... |
ORPHA:2072 |
| Hydrolethalus Syndrome 1 |
|
Median cleft lip, Abnormal pinna morphology, Tracheal stenosis, Micrognathia, Preaxial hand polyd... |
OMIM:236680 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Joint stiffness, Flexion contracture, Optic atrophy, Stridor, Macroglossia,... |
ORPHA:505248 |
| Chand Syndrome |
|
Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol... |
ORPHA:1401 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Perianal abscess, Arthritis, Inflammation of the large intestine, C... |
OMIM:301074 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Isotretinoin-Like Syndrome |
|
Anteverted nares, Micrognathia, Aplasia/Hypoplasia of the inner ear, Cleft palate, Anotia, Microt... |
ORPHA:2306 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of peripheral somatosensory evoked potentials, Tongue atrophy, Flexion contracture of... |
ORPHA:466768 |
| Shigellosis |
|
Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, Arthritis, Conjunctivitis, Acut... |
ORPHA:810 |
| Meckel Syndrome |
|
Low-set, posteriorly rotated ears, Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Mi... |
ORPHA:564 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets |
OMIM:613388 |
| Hartnup Disease |
|
Glossitis, Gingivitis, Malabsorption |
ORPHA:2116 |
| Juvenile Dermatomyositis |
|
Myositis, Pericarditis, Skin rash, Limitation of joint mobility, Arthritis |
ORPHA:93672 |
| Spinocerebellar Ataxia 36 |
|
Tongue atrophy, Tongue fasciculations |
OMIM:614153 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular ... |
ORPHA:51608 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Spontaneous pneumothorax, Micrognathia, Recurrent pneumonia, Esophageal varix, D... |
ORPHA:731 |
| Cystinosis |
|
Rickets, Malabsorption |
ORPHA:213 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Gout |
ORPHA:79233 |
| Congenital Tricuspid Stenosis |
|
Rheumatoid arthritis, Bacterial endocarditis |
ORPHA:95459 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets |
OMIM:611590 |
| Lymphatic Filariasis |
|
Glomerulonephritis, Ankle swelling, Orchitis, Lymphadenitis, Knee osteoarthritis, Epididymitis |
ORPHA:2035 |
| Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Morbilliform rash, Erythema nodosum, Peritonit... |
ORPHA:228123 |
| Spinocerebellar Ataxia Type 36 |
|
Vertigo, Tongue atrophy, Tongue fasciculations, Hearing impairment |
ORPHA:276198 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Frontal bossing, Rickets, Rachitic rosary |
OMIM:612089 |
| Cowden Syndrome 1 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:158350 |
| Hyper-Igd Syndrome |
|
Skin rash, Lymphadenitis, Arthritis, Chronic oral candidiasis, Serositis |
OMIM:260920 |
| Familial Mediterranean Fever |
|
Pericarditis, Orchitis, Peritonitis, Arthritis, Crohn's disease, Erysipelas |
OMIM:249100 |
| Renal And Mullerian Duct Hypoplasia |
|
Frontal bossing, Short nose, Micrognathia |
OMIM:266810 |
| Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
| Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... |
ORPHA:117 |
| Pachyonychia Congenita 3 |
|
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue |
OMIM:615726 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Frontal bossing, Thick vermilion border, Long philtrum, Neonatal death, Short nose |
OMIM:252160 |
| Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Arthritis, Nephritis |
ORPHA:91139 |
| Cowden Syndrome |
|
Hearing impairment, Bone cyst, Furrowed tongue, Hamartomatous polyposis, Macroglossia, High palat... |
ORPHA:201 |
| Acrodermatitis Enteropathica |
|
Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis |
ORPHA:37 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Fat malabsorption, Rickets, Steatorrhea |
ORPHA:79303 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Fat malabsorption, Rickets, Steatorrhea |
OMIM:607765 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure |
ORPHA:280210 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
| Immunoglobulin A Vasculitis |
|
Episcleritis, Skin rash, Pustule, Orchitis, Arthritis, Infectious encephalitis |
ORPHA:761 |
| Steinert Myotonic Dystrophy |
|
Respiratory failure requiring assisted ventilation, Tented upper lip vermilion, Intestinal pseudo... |
ORPHA:273 |
| Aspartylglucosaminuria |
|
Joint laxity, Anteverted nares, Depressed nasal bridge, Thick lower lip vermilion, Hypoplastic fr... |
OMIM:208400 |
| Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Glossitis, Cleft palate |
ORPHA:79284 |
| Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Skin rash, Eczema, Erythema nodosum, Arthritis, Panniculitis, Recurrent sinusitis, Recurrent otit... |
OMIM:615688 |
| Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Swelling of proximal interphalangeal joints, Ankle swelling... |
ORPHA:3260 |
| Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Tapered finger, Unilateral deafness, Short uvula, Submuc... |
OMIM:619539 |
| Kawasaki Disease |
|
Pericarditis, Skin rash, Myocarditis, Hepatitis, Cheilitis, Arthritis, Conjunctivitis, Cholecystitis |
ORPHA:2331 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Skin rash, Osteomalacia, Pneumonia, Recurrent skin infections, Gastritis, Bronchie... |
OMIM:619381 |
| Blau Syndrome |
|
Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Retrobulbar optic neuritis, Erythema... |
ORPHA:90340 |
| Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Osteomalacia, Hip dislocation, Rickets, Genu valgum, Finger swelling, Pa... |
OMIM:309000 |
| Nocardiosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, P... |
ORPHA:31204 |
| Hereditary Spherocytosis |
|
Maculopapular exanthema, Gout |
ORPHA:822 |
| Dysbetalipoproteinemia |
|
Acute pancreatitis, Gout |
ORPHA:412 |
| Cystinosis, Nephropathic |
|
Frontal bossing, Metaphyseal widening, Rickets, Genu valgum, Hypophosphatemic rickets, Rachitic r... |
OMIM:219800 |
| Vascular Ehlers-Danlos Syndrome |
|
Joint dislocation, Congenital hip dislocation, Osteoarthritis, Osteolysis, Joint hyperflexibility... |
ORPHA:286 |
| Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
| Wiskott-Aldrich Syndrome |
|
Sinusitis, Eczema, Keratitis, Arthritis, Inflammation of the large intestine, Conjunctivitis, Oti... |
ORPHA:906 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sensorineural hearing impairment, Elbow flexion contracture, Knee flexion contracture, Furrowed t... |
OMIM:148210 |
| Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... |
ORPHA:289390 |
| Hereditary Folate Malabsorption |
|
Glossitis, Cheilitis |
ORPHA:90045 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion |
ORPHA:340 |
| Glycogen Storage Disease Ia |
|
Osteoporosis, Pancreatitis, Gout |
OMIM:232200 |
| Sitosterolemia 1 |
|
Arthritis |
OMIM:210250 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure |
OMIM:616538 |
| Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Osteoporosis, Pancreatitis, Gout |
OMIM:232220 |
| Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea |
ORPHA:555874 |
| Peroxisome Biogenesis Disorder 4B |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, Short nose |
OMIM:614863 |
| Systemic Lupus Erythematosus |
|
Lupus nephritis, Discoid lupus rash, Cheilitis, Arthritis, Malar rash, Serositis |
ORPHA:536 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Tubulointerstitial nephritis, Gout |
OMIM:174000 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Respiratory failure, Tachypnea, Respiratory insufficiency, Death in childhood |
OMIM:618278 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Frontal bossing, Short nose, Thick vermilion border, Long philtrum |
OMIM:252150 |
| Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Hearing impairment, Erythematous oral mucosa, Recurrent pneumonia, Furrowed tongue, Rh... |
OMIM:158310 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Joint hyperflexibility, Arthritis |
ORPHA:93111 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Hepatitis, Atopic dermatitis, Arthritis |
OMIM:615846 |
| Odontoonychodermal Dysplasia |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Osteoporosis, Enterocolitis, Gout, Increased susceptibility to fractures, Ulcerative ... |
ORPHA:79259 |
| Autoimmune Lymphoproliferative Syndrome |
|
Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Colitis, Panniculitis,... |
ORPHA:3261 |
| Fanconi-Bickel Syndrome |
|
Rickets, Osteomalacia, Malabsorption |
OMIM:227810 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Posteri... |
OMIM:306955 |
| Plague |
|
Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Abnormality of the elbow, Enterocolitis,... |
ORPHA:707 |
| Craniofacial Microsomia 1 |
|
Micrognathia, Hypoplasia of the maxilla, Anotia, Conductive hearing impairment, Duplicated tragus... |
OMIM:164210 |
| Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... |
ORPHA:1435 |
| Lacrimoauriculodentodigital Syndrome |
|
Finger syndactyly, Syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... |
ORPHA:2363 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
| 22Q11.2 Deletion Syndrome |
|
Arachnodactyly, Acne, Seborrheic dermatitis, Multiple suture craniosynostosis, Joint hyperflexibi... |
ORPHA:567 |
| Niemann-Pick Disease Type C |
|
Respiratory failure, Respiratory insufficiency, Aspiration pneumonia, Hearing impairment |
ORPHA:646 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets |
OMIM:616026 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Rickets, Osteoporosis, Colitis, Steatorrhea |
ORPHA:309031 |
| Agel Amyloidosis |
|
Tongue atrophy, Facial palsy, Xerostomia, Orthostatic hypotension due to autonomic dysfunction, H... |
ORPHA:85448 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Optic atrophy, Low-set ears, Stomatitis, Pulmonary arte... |
ORPHA:79282 |
| Glycogen Storage Disease Ic |
|
Stomatitis, Inflammation of the large intestine, Gout, Chronic pancreatitis |
OMIM:232240 |
| Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Chilblains, Arthritis, Panniculitis |
ORPHA:51 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Spontaneous pneumothorax, Narrow nasal ridge, Pleural effusion, Low-set ... |
OMIM:606721 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Arthritis, Diaphyseal... |
ORPHA:217085 |
| Sarcoidosis, Susceptibility To, 1 |
|
Iridocyclitis, Clubbing, Bronchiectasis, Uveitis, Arthritis, Inflammation of the large intestine |
OMIM:181000 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Arthritis, Diaphyseal... |
ORPHA:217093 |
| Imerslund-Gräsbeck Syndrome |
|
Glossitis, Angular cheilitis |
ORPHA:35858 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia, Peptic ulcer |
OMIM:600740 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
| Fabry Disease |
|
Arthritis, Abnormal femur morphology, Reduced bone mineral density |
ORPHA:324 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Enamel hypoplasia, Smooth tongue, Craniosynostosis, Oral mucosal blisters |
ORPHA:79396 |
| Dermatomyositis |
|
Myocarditis, Arthritis, Pericarditis, Chondrocalcinosis |
ORPHA:221 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Neuropathic arthropathy, Painless fractures due to injury, Abnormality ... |
ORPHA:642 |
| Penile Agenesis |
|
Posteriorly rotated ears, Depressed nasal bridge, Rectal fistula, Tracheoesophageal fistula, Bila... |
ORPHA:49 |
| Marburg Hemorrhagic Fever |
|
Pericarditis, Skin rash, Maculopapular exanthema, Orchitis, Uveitis, Arthritis, Pancreatitis |
ORPHA:99826 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Myocarditis, Septic arthritis, Pancreatitis, Acute colitis |
ORPHA:544482 |
| Tetrasomy 9P |
|
Joint dislocation, Myositis, Pericarditis, Small hand, Arthritis, Talipes equinovarus, Small toe,... |
ORPHA:3310 |
| Norrie Disease |
|
Narrow nasal bridge, Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal co... |
ORPHA:649 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory failure |
ORPHA:805 |
| Gaisböck Syndrome |
|
Cholecystitis, Gout |
ORPHA:90041 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Respiratory failure, Death in childhood |
OMIM:618252 |
| Chronic Graft Versus Host Disease |
|
Fasciitis, Urinary bladder inflammation, Flexion contracture, Bronchiectasis, Arthritis, Keratoco... |
ORPHA:99921 |
| Gitelman Syndrome |
|
Tubulointerstitial nephritis, Chondrocalcinosis, Hashimoto thyroiditis, Gout |
ORPHA:358 |
| Infantile Nephropathic Cystinosis |
|
Rickets |
ORPHA:411629 |
| Multiple Endocrine Neoplasia Type 2 |
|
Joint laxity, Aganglionic megacolon, Abnormal tongue morphology, Thick vermilion border, Ganglion... |
ORPHA:653 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Long toe, Short humerus, Short femur, Recurrent skin infections, Camptodactyly of fin... |
ORPHA:3455 |
| Renal Cysts And Diabetes Syndrome |
|
Gout |
OMIM:137920 |
| Noonan Syndrome 1 |
|
Synovitis, Radial deviation of finger, Cubitus valgus, Clinodactyly, Brachydactyly |
OMIM:163950 |
| Microsporidiosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Rhinitis, Glossitis |
ORPHA:2552 |
| Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
| Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia, Peptic ulcer |
ORPHA:405 |
| Glucagonoma |
|
Stomatitis, Intestinal obstruction, Glossitis, Steatorrhea |
ORPHA:97280 |
| Carney Complex |
|
Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Neoplasm of the pharynx, Ab... |
ORPHA:1359 |
| Deafness, Autosomal Dominant 37 |
|
Sensorineural hearing impairment |
OMIM:618533 |
