| Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Death in... |
OMIM:256050 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Proximal f... |
OMIM:609324 |
| Brachyolmia Type 1, Hobaek Type |
|
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... |
OMIM:271530 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures... |
OMIM:156510 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Abn... |
ORPHA:750 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Beaking of vertebral bodies, Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteve... |
OMIM:618961 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B... |
OMIM:609052 |
| Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga |
OMIM:271620 |
| Corneal Dystrophy, Congenital Stromal |
|
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Short neck, Abnormal hand... |
OMIM:200600 |
| Fibrochondrogenesis 2 |
|
Anteverted nares, Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypop... |
OMIM:614524 |
| Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Depressed nasal bridge, Mi... |
ORPHA:166272 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O... |
OMIM:608728 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... |
OMIM:609616 |
| Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Prominent nose, Feeding difficul... |
OMIM:234250 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Flat capital femoral epiphysis, Genu valgum, Irregular vertebral endplates,... |
OMIM:609223 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Broad radial metaphysis, Abnormal intervertebral disk morphology, Protrusio acet... |
ORPHA:99642 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Narrow nasal bridge, Irregularity of vertebral bodies, Overhanging nasal tip, Hypoplasia of the o... |
ORPHA:85172 |
| Keratoconus 9 |
|
Keratoconus, Decreased corneal thickness |
OMIM:617928 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla... |
ORPHA:1856 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped... |
OMIM:156530 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Epiphyseal dysplasia, Enlarged epiphyses, Depressed nasal bridge, Anteverted nares, Pierre-Robin ... |
OMIM:184840 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Keratoconus 1 |
|
Keratoconus, Astigmatism |
OMIM:148300 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i... |
OMIM:269250 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Frontal bossing, Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily sublux... |
OMIM:311895 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Vertebral wedging, Platyspondyly, Internal tibial t... |
OMIM:616583 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Micrognathia, Nasogastric tube feeding in infan... |
ORPHA:93316 |
| Acrocephalopolydactyly |
|
Short neck, Depressed nasal ridge, Short long bone, Protuberant abdomen, Limb undergrowth, Short ... |
ORPHA:221054 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Severe limb shortening, Radial bowing, Depressed nasal bridge, Rhizomelia... |
OMIM:151210 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
| Dysostosis Multiplex, Ain-Naz Type |
|
Glenoid fossa hypoplasia, Abdominal distention, Hip dislocation, Hemivertebrae, Flat acetabular r... |
OMIM:619345 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid process, Cli... |
OMIM:184250 |
| Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Abnormal metaphysis morphology, Platyspondyly, Kyphoscoliosis |
ORPHA:93304 |
| Odontochondrodysplasia 1 |
|
Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Death in infancy, Short me... |
OMIM:184260 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Platyspondyly, Delayed ossification of carpal bones, I... |
OMIM:617974 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Bilateral coxa valga, Platyspondyly, Abnormal vertebral morphology, Abnormal ilium morphology |
ORPHA:163665 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Coxa vara, Hypoplastic il... |
OMIM:613330 |
| Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Depressed nasal bridge, Anteverted nares... |
ORPHA:50945 |
| Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
| Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
| Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
| Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Flat capital femoral epiphysis, Platyspondyly, Genu varum, Genu valgum |
OMIM:608361 |
| Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Abdominal dis... |
ORPHA:85166 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Metaphyseal widening, Dental malocclusion, ... |
OMIM:608940 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Depressed nasal bridge, Irregular, rachitic-like metaphyses, Short neck, Kyphoscoliosis, Hypoplas... |
OMIM:184252 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Wide nose, Depressed nasal bridge, Anteverted nares, Iliac crest serration, Mic... |
OMIM:613320 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal metacarpal morphology, Abnormal form of the vertebral bodies, Abnormal pelvic girdle bon... |
ORPHA:2370 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... |
OMIM:619598 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Micrognathia, Short neck, Downturned corners of mouth, High palate, Thoracic kyphosis, Abnormal f... |
ORPHA:163649 |
| Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Vertebral clefting, Dental malocclusion, Short columella, Short nose, Pat... |
OMIM:155050 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Coxa vara, Abnormal hip joint morphology, Arthralgia of the hip, Abnormal ace... |
ORPHA:166011 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hyperextensibility of the finger joints, Hip contracture, Depressed nasal bridge, Anteverted nare... |
OMIM:313420 |
| Acromicric Dysplasia |
|
Short palm, Short metacarpal, Brachydactyly, Anteverted nares, Ovoid vertebral bodies, Bulbous no... |
ORPHA:969 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia,... |
ORPHA:163966 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae... |
OMIM:118651 |
| Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Nausea and vomiting, Anteverted nares, Abnormal dental enamel morpholo... |
ORPHA:2107 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Short palm, Hy... |
OMIM:611717 |
| Ring Chromosome 22 Syndrome |
|
Edema, Protruding tongue, Lymphedema, 2-3 toe syndactyly, Large hands, Thick vermilion border, Do... |
ORPHA:1446 |
| Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Short metacarpal, Depressed nasal bridge, Thoracolumbar kyphoscolios... |
OMIM:618853 |
| Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v... |
OMIM:228520 |
| Acromicric Dysplasia |
|
Short palm, Short metacarpal, Anteverted nares, Ovoid vertebral bodies, Bulbous nose, Thick lower... |
OMIM:102370 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping, Depressed nasal ridge, Metaphyseal cupping of ... |
OMIM:300863 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Abnormal epiphysis morphology, Micromelia |
ORPHA:93283 |
| Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Short neck, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone morph... |
ORPHA:1427 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Abdominal distention, Delayed epiphyseal ossification, Metaphysea... |
ORPHA:93352 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Macrodontia, Small hand, Short foot, High palate, Short 5th finger, Clinodactyly, Short nose |
OMIM:300577 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Micrognathia, Carious teeth, Flared metaphysis, Hypoplastic pubic ... |
ORPHA:93346 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Depressed nasal bridge, Ovoid vertebral bodies, Hyperlordosis, Kyphosis... |
ORPHA:40 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... |
OMIM:612847 |
| Pyle Disease |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Persistence of primary teeth, Carious teeth, Me... |
OMIM:265900 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Short neck, Cleft palate, Short nose, A... |
ORPHA:2015 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft... |
ORPHA:3104 |
| Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
| Dysspondyloenchondromatosis |
|
Kyphoscoliosis, Abnormal fibula morphology, Genu valgum, Multiple enchondromatosis, Vertebral seg... |
ORPHA:85198 |
| Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa... |
OMIM:251450 |
| Kniest Dysplasia |
|
Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal cartilage collage... |
OMIM:156550 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Micromelia, Coxa vara, Short palm |
ORPHA:168555 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Depressed nasal bridge, Anteverted nares, Large tarsa... |
OMIM:215150 |
| Marshall-Smith Syndrome |
|
Bowing of the long bones, Anteverted nares, Choanal atresia, Protruding tongue, Gingival overgrow... |
ORPHA:561 |
| 9q subtelomeric deletion syndrome |
|
Midface retrusion, Protruding tongue |
DECIPHER:52 |
| Pseudodiastrophic Dysplasia |
|
Rhizomelia, Phalangeal dislocation, Platyspondyly, Talipes equinovarus, Scoliosis |
ORPHA:85174 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Micrognathia, Short neck, Wide... |
ORPHA:93267 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Schmorl's node, Irregular vertebral endplates, Platyspondyly, Beaking of vertebr... |
OMIM:604864 |
| 17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Anteverted nares, Sandal gap, Abnormality of the dentition, Micrognathia, High pa... |
ORPHA:217340 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Hyperconvex vertebral body... |
OMIM:184255 |
| Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue |
OMIM:618732 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
| Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Anteverted nares, Phalangeal dislocation, Rhizomelia, Micrognathia, Short n... |
OMIM:264180 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Convex nasal ridge, Abnorm... |
ORPHA:1277 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly, Genu valgum |
OMIM:184095 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v... |
OMIM:602111 |
| Gm1-Gangliosidosis, Type Ii |
|
Protruding tongue, Coxa valga, Thoracolumbar kyphosis, Gingival overgrowth, Dysphagia, Hypoplasti... |
OMIM:230600 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epiphyses, Short pha... |
OMIM:177170 |
| Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Irregular vertebral endplates, Sq... |
OMIM:271630 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara, Upper limb... |
ORPHA:93351 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Prominent nasal bridge, Cone-shaped epiphysis, Platyspondyly, Short ph... |
ORPHA:71267 |
| Maxillonasal Dysplasia |
|
Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the toes, Open bite, Verteb... |
ORPHA:1248 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of... |
ORPHA:239 |
| Anauxetic Dysplasia 1 |
|
Short neck, Thoracic kyphosis, Short palm, Microdontia, Barrel-shaped chest, Lumbar hyperlordosis... |
OMIM:607095 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... |
OMIM:187601 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Enlarged epiphyses, Irregularity of vertebral bodies, Coxa vara, Abnormal shoulder morphology, Ir... |
ORPHA:1159 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Camptodactyly of finger, Kyp... |
OMIM:612350 |
| Melkersson-Rosenthal Syndrome |
|
Facial edema, Furrowed tongue |
OMIM:155900 |
| Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... |
ORPHA:1426 |
| Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspondyly, Narrow greater s... |
OMIM:602271 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... |
OMIM:250460 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, High palate, Barrel-... |
OMIM:226980 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... |
OMIM:277300 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Capitate-hamat... |
OMIM:271650 |
| Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Intestinal malrotation, Overlapping toe, Protruding tongue, Camptodacty... |
OMIM:300963 |
| Down Syndrome |
|
Depressed nasal bridge, Aganglionic megacolon, Sandal gap, Protruding tongue, Abnormality of the ... |
ORPHA:870 |
| Spondylocamptodactyly Syndrome |
|
Platyspondyly, Camptodactyly of finger, Scoliosis |
ORPHA:3180 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
| Developmental And Epileptic Encephalopathy 80 |
|
Death in infancy, Tented upper lip vermilion, Protruding tongue, Tapered finger, Micrognathia, Wi... |
OMIM:618580 |
| Achondrogenesis, Type Ib |
|
Micromelia, Hypoplastic ilia, Abdominal distention, Stillbirth, Short ribs, Absent or minimally o... |
OMIM:600972 |
| Smith-Mccort Dysplasia 1 |
|
Barrel-shaped chest, Short metacarpal, Multicentric femoral head ossification, Iliac crest serrat... |
OMIM:607326 |
| Cantu Syndrome |
|
Ovoid vertebral bodies, Depressed nasal bridge, Anteverted nares, Broad hallux, Short hallux, Cox... |
OMIM:239850 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Anteverted nares, Protruding tongue, Short neck, Alveolar ridge overgrowth, Cleft palate, Drumsti... |
OMIM:612938 |
| Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Short toe, Wide nasal b... |
OMIM:614078 |
| Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Abnormal metacarpal morphology |
OMIM:269630 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Barrel-shaped chest, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal widening, Irregula... |
OMIM:612813 |
| Achondrogenesis Type 1A |
|
Anteverted nares, Micromelia, Micrognathia, Short neck, Abdominal distention, Short foot, Short p... |
ORPHA:93299 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ... |
OMIM:187600 |
| Raine Syndrome |
|
Micromelia, Micrognathia, Short neck, High palate, Choanal stenosis, Neonatal death, Microdontia,... |
OMIM:259775 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central incisors, Gastroesophageal... |
OMIM:301040 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal irregularity,... |
ORPHA:457395 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Hip contracture, Necrotizing enterocolitis, Toe syndactyly, Depressed nasal bridge, Anteverted na... |
OMIM:616809 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Macrodontia, Prominent nasal bridge, Proximal placement of thumb, Protruding tongue, Diastema, Co... |
OMIM:212066 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Micrognathia, Shor... |
OMIM:255800 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Depressed ... |
ORPHA:1837 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Cleft palate, Mesomelia, Vertebral segmentatio... |
ORPHA:2631 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi... |
OMIM:313400 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Inguinal hernia, Dental crowding, Protruding tongue, Submucous cleft hard palate, Plagiocephaly, ... |
OMIM:618106 |
| Autosomal Recessive Stickler Syndrome |
|
Epiphyseal dysplasia, Micrognathia, Cleft palate, Genu valgum, Irregular vertebral endplates, Pla... |
ORPHA:250984 |
| Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Depressed nasal bridge, Death in infa... |
OMIM:617425 |
| Brachyolmia, Maroteaux Type |
|
Pectus excavatum, Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:93302 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Depressed nasal bridge, Sandal gap, Postaxial polydactyly, Cario... |
OMIM:617102 |
| Stickler Syndrome Type 1 |
|
Cleft palate, Platyspondyly, Abnormal epiphysis morphology, Long philtrum, Abnormal vertebral epi... |
ORPHA:90653 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Micrognathia, Short neck, Glossoptosis, Barrel-shaped chest, Abnormally ossified verte... |
ORPHA:94068 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl... |
OMIM:601356 |
| Qazi-Markouizos Syndrome |
|
Prominent nasal bridge, Tapered finger, Pectus excavatum, High, narrow palate, Abdominal distenti... |
ORPHA:3010 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro... |
ORPHA:63446 |
| Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... |
ORPHA:168549 |
| Atelosteogenesis, Type I |
|
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplasia, ... |
OMIM:108720 |
| Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Feeding difficulties, Decreased intestinal t... |
OMIM:620045 |
| Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Promine... |
OMIM:200990 |
| Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... |
OMIM:619636 |
| Smith-Mccort Dysplasia 2 |
|
Barrel-shaped chest, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Short... |
OMIM:615222 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Depressed nasal bridge, Rhizom... |
OMIM:618019 |
| Trehalase Deficiency |
|
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o... |
OMIM:184253 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Depressed nasal bridge, Prominent nasal bridge, Kyphoscoliosis, Protruding tongue, Abnormal thumb... |
ORPHA:324410 |
| Desbuquois Dysplasia 2 |
|
Dental crowding, Short neck, Metaphyseal widening, Short phalanx of finger, Bifid uvula, Genu var... |
OMIM:615777 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar interpedicular narrowing, Genu varum, ... |
OMIM:271510 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Rhizomelia, Femoral bowing, Feeding difficulties, Platyspondyly, Thoracic kyphosis, Short 4th met... |
OMIM:619638 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Protruding tongue, Malabsorption, Micrognathia, Diarrhe... |
OMIM:242860 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Wide nose, Rhizomelia, Hyperlordosis, Depressed nasal ridge, Cox... |
ORPHA:2831 |
| Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Cleft palate... |
OMIM:249710 |
| Osteogenesis Imperfecta, Type V |
|
Hyperextensibility of the finger joints, Vertebral wedging, Abnormal pelvic girdle bone morpholog... |
OMIM:610967 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Gingival overgrowth, Feeding diffic... |
OMIM:619179 |
| Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... |
OMIM:223800 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Depressed nasal bridge, Protruding tongue, Tapered finger, Prominent crus of helix, Feeding diffi... |
OMIM:617804 |
| Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... |
ORPHA:1240 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Broad nasal tip, Short neck, Hypoplasia... |
OMIM:300232 |
| Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormal femur mor... |
ORPHA:429 |
| Opsismodysplasia |
|
Short neck, Hypoplastic vertebral bodies, Short palm, Short phalanx of finger, Short metacarpal, ... |
OMIM:258480 |
| Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypo... |
OMIM:230650 |
| Progressive Pseudorheumatoid Dysplasia |
|
Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Enl... |
OMIM:208230 |
| Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Barrel-shaped chest, Broad long bones, S... |
OMIM:200610 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short fourth metatarsal, Tented upper lip vermilion, Depressed nasal bridge, Short metacarpal, Ov... |
OMIM:616723 |
| Catel-Manzke Syndrome |
|
Camptodactyly of finger, Metatarsus valgus, Micrognathia, Pectus excavatum, Radial deviation of t... |
ORPHA:1388 |
| Meckel Syndrome, Type 8 |
|
Cleft upper lip, Short neck, Abdominal distention, Depressed nasal ridge, Cleft palate, Polydacty... |
OMIM:613885 |
| Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
| Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
| Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
| Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormal dental morphology, Micrognathia, Fractures ... |
ORPHA:319195 |
| Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Tapered finger, Flat capital femoral epiphysis, Flattened epiphysis, Platyspondyly, Short femoral... |
ORPHA:157965 |
| 14Q11.2 Microdeletion Syndrome |
|
Toe clinodactyly, Toe syndactyly, Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia, ... |
ORPHA:261120 |
| Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondy... |
OMIM:113500 |
| Saul-Wilson Syndrome |
|
Narrow nasal bridge, Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Co... |
OMIM:618150 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Tapered finger, Short neck, Hip dislocation, Irregular vertebral endplate... |
OMIM:618395 |
| Ollier Disease |
|
Micromelia, Abnormal cartilage morphology, Multiple enchondromatosis, Platyspondyly, Abnormal met... |
ORPHA:296 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Wide nose, Protruding tongue, Micrognathia, Short neck, Feeding difficulties, T... |
OMIM:608779 |
| Ring Chromosome 8 Syndrome |
|
Deviation of finger, Short nose, Anteverted nares, Abnormal palate morphology |
ORPHA:1450 |
| Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla... |
ORPHA:485 |
| Hypophosphatasia, Infantile |
|
Death in infancy, Micromelia, Bowing of the legs, Abnormality of the dentition, Anorexia, Vertebr... |
OMIM:241500 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Short neck, Depressed nasal ridge, Triangular shape... |
OMIM:271665 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... |
ORPHA:93360 |
| Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
| Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Short phalanx of finger, Broad metacarpa... |
ORPHA:56304 |
| Osteogenesis Imperfecta, Type Ix |
|
Pectus excavatum, Kyphosis, Dentinogenesis imperfecta, Platyspondyly, Scoliosis, Short lower limbs |
OMIM:259440 |
| Mucopolysaccharidosis, Type X |
|
Hyperlordosis, Diastema, Open bite, Wide nasal bridge, Genu valgum, Hip dysplasia, Posterior scal... |
OMIM:619698 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Arthralgia of the hip, Abnormality of radial epiphyses... |
ORPHA:166002 |
| Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Depressed nasal bridge, Rhizomelia, Micrognathia, Abnormality of the humerus, Prea... |
ORPHA:3098 |
| Kleefstra Syndrome 1 |
|
Natal tooth, Persistence of primary teeth, Protruding tongue, Brachycephaly, Macroglossia, Everte... |
OMIM:610253 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Depressed nasal bridge, Feeding difficulties in infancy, Abdominal distention, Delayed epiphyseal... |
ORPHA:226313 |
| Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Macroglossia, Short long bone, Flared elbow metaphyses, Limb undergrowth |
ORPHA:1423 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Depressed nasal bridge, Camptodactyly of finger, Microme... |
ORPHA:2635 |
| Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spaced teeth, A... |
OMIM:253000 |
| Achondroplasia |
|
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, High palate, Hypoplastic iliac wing, Abnormal vertebral mor... |
ORPHA:93315 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Platyspondyly, Brachytelomesoph... |
ORPHA:2619 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... |
OMIM:184100 |
| Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Feeding difficulties in infancy, Hip dysplasia, Scoliosis, Short nose |
OMIM:618379 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Flattened metatarsal heads, Platyspondyly, Flattened metacarpal heads |
OMIM:271600 |
| Stickler Syndrome, Type I |
|
Depressed nasal bridge, Anteverted nares, Arachnodactyly, Micrognathia, Pectus excavatum, Kyphosi... |
OMIM:108300 |
| Hypochondroplasia |
|
Brachydactyly, Widened interpedicular distance, Depressed nasal bridge, Lumbar hyperlordosis, Apl... |
OMIM:146000 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Toe syndactyly, Short neck, Dysphagia, Platyspondyly, Cone-shaped epiphyses of the distal phalang... |
OMIM:618958 |
| Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Clinodactyly of the 5th finger, Small proximal tibial epiph... |
OMIM:154780 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Micrognathia, Nasogastric tube feeding in infancy, Aplasia/Hypoplasia of fingers, Cleft palate, F... |
ORPHA:141152 |
| Acrodysostosis |
|
Micromelia, Depressed nasal ridge, Short metatarsal, Abnormal form of the vertebral bodies, Hypop... |
ORPHA:950 |
| Achondroplasia |
|
Bowing of the legs, Femoral bowing, Choanal stenosis, Narrow greater sciatic notch, Trident hand,... |
OMIM:100800 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... |
ORPHA:103907 |
| Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Micrognathia, Pectus excavatum, High palate, Everted lower lip vermilion,... |
ORPHA:1695 |
| 17P13.3 Microduplication Syndrome |
|
Wide nose, Congenital hip dislocation, Short neck, High palate, Narrow mouth, Clinodactyly of the... |
ORPHA:217385 |
| Pierpont Syndrome |
|
Smooth philtrum, Wide nose, Broad nasal tip, Short neck, Short toe, Feeding difficulties, Broad p... |
OMIM:602342 |
| Thanatophoric Dysplasia |
|
Depressed nasal bridge, Micromelia, Abnormal sacroiliac joint morphology, Kyphosis, Hip dysplasia... |
ORPHA:2655 |
| Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Anteverted nares, Abnormal dental enamel morphology, Abnormality of the... |
ORPHA:582 |
| Greenberg Dysplasia |
|
Micromelia, Micrognathia, Depressed nasal ridge, Tetraphocomelia, Hypoplastic vertebral bodies, H... |
OMIM:215140 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the ... |
OMIM:183900 |
| Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Depressed nasal bridge, Micromelia, Hypoplastic ilia, Abno... |
ORPHA:1860 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly |
OMIM:611263 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Micrognathia, Irregular vertebral endplates, High palate, Amelogenesis imperfecta, Microretrognat... |
OMIM:618363 |
| Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
| Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossification involving the ... |
ORPHA:1190 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Flat occiput, Protruding tongue, Brachycephaly, Gingival overgrowth, Wide mouth |
OMIM:618797 |
| Dental Anomalies And Short Stature |
|
Oligodontia, Platyspondyly, Widely spaced teeth, Herniation of intervertebral nuclei, Scoliosis, ... |
OMIM:601216 |
| Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Back pain, Abdominal pain, Feeding difficulties in infancy, Abdomina... |
ORPHA:2924 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... |
ORPHA:85167 |
| Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Sand... |
OMIM:617752 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Dental crowding, Micromelia, Underdeveloped nasal alae, Kyphosis, Short metatar... |
OMIM:180870 |
| Brittle Cornea Syndrome 1 |
|
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Red hair |
OMIM:229200 |
| Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Depressed nasal bridge, ... |
ORPHA:1458 |
| Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Protruding tongue, Feeding difficulties, Wide mouth, Gastroesophageal reflux, Constipation, Scoli... |
OMIM:614325 |
| Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Anteverted nares, Exaggerated cupid's bow, Rocker bottom foot, Feeding difficulties, Wide mouth, ... |
OMIM:618506 |
| Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spaced teeth, Hyperlordosis... |
OMIM:253010 |
| Pallister-Hall-Like Syndrome |
|
Death in infancy, Median cleft lip, Depressed nasal bridge, Toe syndactyly, Micromelia, Micrognat... |
OMIM:241800 |
| Congenital Sialidosis Type 2 |
|
Inguinal hernia, Edema, Protruding tongue, Gingival overgrowth, Polydactyly, Umbilical hernia, As... |
ORPHA:93400 |
| Sponastrime Dysplasia |
|
Aplasia of the nasal bone, Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia str... |
ORPHA:93357 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Anteverted nares, Fractured radius, Decreased fibular diameter, Micrognathia, Short ... |
OMIM:616897 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Postaxial polydactyly, Micromeli... |
OMIM:617866 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Depressed nasal bridge, Anteverted nares, Micrognathia, Pectus excavatum, Kyphosis... |
OMIM:618272 |
| Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... |
OMIM:612961 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Ulnar deviation of the hand, Anteverted nares, Rocker bottom foot, Protruding tongue, Metatarsus ... |
OMIM:214100 |
| 2q33.1 deletion syndrome |
|
Inguinal hernia, High palate, Cleft palate |
DECIPHER:51 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Inguinal hernia, Flat occiput, Protruding tongue, Brachycephaly, Downturned corners of mouth, Mac... |
ORPHA:96147 |
| Angelman Syndrome |
|
Flat occiput, Protruding tongue, Brachycephaly, Wide mouth, Macroglossia, Widely spaced teeth |
OMIM:105830 |
| Distal Duplication 18Q |
|
Anteverted nares, Prominent nasal bridge, Choanal atresia, Abnormal dental morphology, Carious te... |
ORPHA:1716 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Bulbous nose, Pierre-Robin sequence, Cl... |
OMIM:613604 |
| Bruck Syndrome 1 |
|
Hip contracture, Protrusio acetabuli, Kyphosis, Coxa vara, Vertebral wedging, Platyspondyly, Tali... |
OMIM:259450 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Tibial bowing, Abnormal pelvic girdle bone morphology, Pla... |
OMIM:166210 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose |
ORPHA:1355 |
| Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Radi... |
OMIM:602875 |
| Osteoglophonic Dysplasia |
|
Short neck, Short metatarsal, Eruption failure, High palate, Short palm, Short phalanx of finger,... |
OMIM:166250 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Abnormal hand morphology, Small hand, Cleft palate, Short foot, Midface retrusion |
OMIM:300261 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal form of ... |
ORPHA:1802 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Depressed nasal bridge, Short femur, Bowed humeru... |
OMIM:211350 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Abnorma... |
ORPHA:2639 |
| Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short femur, Micrognathia, Abnormal sacrum morphology, Cleft palate, Or... |
ORPHA:1988 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
| Chung-Jansen Syndrome |
|
Anteverted nares, Tapered finger, Micrognathia, Feeding difficulties, Hip dysplasia, Thin vermili... |
OMIM:617991 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Rocker bottom foot, Micrognathia, Short neck, Kyphosis, Wide nasal bridge, High... |
OMIM:618393 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Coxa valga, Pierre-Robin sequence, Advanced ossification of carpal bones, Cleft palate, Feeding d... |
OMIM:620269 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Broad long bones, Depressed nasal bridge, Anteverted nares, Abnormal metatarsal morphology, Short... |
ORPHA:163654 |
| Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Protruding tongue, Micrognat... |
OMIM:619777 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha... |
OMIM:250220 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Feeding difficulties in infancy, Glossoptosis, Death in infancy, Epiphyseal stippling |
OMIM:614876 |
| Thoracomelic Dysplasia |
|
Short neck, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone m... |
ORPHA:1803 |
| Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa... |
OMIM:609162 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Micrognathia, Short neck, Depressed nasal ridge, Gingival fibromatosis, Gingiva... |
ORPHA:1832 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Depressed nasal bridge, Broad na... |
OMIM:619736 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Broad hallux, Protruding tongue, Micrognathia, Wide n... |
OMIM:617062 |
| Mucopolysaccharidosis, Type Vii |
|
Short neck, Narrow greater sciatic notch, Widely spaced teeth, Anterior beaking of lumbar vertebr... |
OMIM:253220 |
| Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Microretrognathia, Bowing of the long bones, Rhizomelia, Tooth agenesis, Short... |
OMIM:616229 |
| Isolated Dandy-Walker Malformation |
|
Encephalocele, Frontal bossing, Cleft palate, Prominent occiput, Platybasia |
ORPHA:217 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Protruding tongue, Feeding difficulties, Wide mouth, Widely spaced teeth, Dysphagia, Poor suck |
ORPHA:98795 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Bowing of the long bones, Kyphoscoliosis, Hypoplastic ilia, Pectus excavatu... |
OMIM:615349 |
| Pyknoachondrogenesis |
|
Micromelia, Short iliac bones, Abdominal distention, Abnormal iliac wing morphology, Depressed na... |
ORPHA:3003 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Anteverted nares, Ovoid vertebral bodies, Short hallux, ... |
ORPHA:1517 |
| Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Scoliosis, Dysphagia... |
OMIM:619751 |
| Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Abnormality of the dentition, Epiphyseal stippling, Abnormal epiphysis morphology, Sc... |
ORPHA:177 |
| Angelman Syndrome Due To A Point Mutation |
|
Wide mouth, Flat occiput, Widely spaced teeth, Protruding tongue |
ORPHA:411511 |
| Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Micromelia, Microgna... |
ORPHA:93329 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, 2-3 toe syndactyly, Feeding d... |
OMIM:613443 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent... |
ORPHA:1350 |
| Congenital Pancreatic Cyst |
|
Abdominal distention, Vomiting, Anorexia, Abdominal pain |
ORPHA:313906 |
| Dysosteosclerosis |
|
Micrognathia, Absent frontal sinuses, Increased intervertebral space, Hypoplastic vertebral bodie... |
OMIM:224300 |
| Gm1 Gangliosidosis |
|
Depressed nasal ridge, Abnormal form of the vertebral bodies, Gastroesophageal reflux, Depressed ... |
ORPHA:354 |
| Rhiny |
|
Short nose, Thin vermilion border, Anteverted nares |
OMIM:180360 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Severe periodontitis, Depressed nasal bridge, Overlapping toe, Protruding tongue, Deep philtrum, ... |
ORPHA:99843 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Protruding tongue, Feeding difficulties, Wide mouth, Constipation, Widely spaced teeth, Scoliosis... |
ORPHA:98794 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Kyphos... |
ORPHA:3121 |
| Gm1 Gangliosidosis Type 1 |
|
Depressed nasal bridge, Broad nasal tip, Gingival overgrowth, Feeding difficulties, Hypoplastic v... |
ORPHA:79255 |
| Verheij Syndrome |
|
Thin upper lip vermilion, Vertebral fusion, Anteverted nares, Broad nasal tip, Short neck, Clinod... |
OMIM:615583 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Limb undergrowth, Lumbar hyperlordosis, Pectus excavatum, Bowing of the legs |
ORPHA:156728 |
| Even-Plus Syndrome |
|
Epiphyseal dysplasia, Short neck, Bifid nasal tip, Vertebral clefting, Depressed nasal ridge, Dys... |
OMIM:616854 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
| Vitamin K Antagonist Embryofetopathy |
|
Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Short neck, Punctate ve... |
ORPHA:1914 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Micrognathia, Long nose, Increased intervertebral space, Thoracolumbar kyphosis, Narrow greater s... |
ORPHA:508533 |
| Opsismodysplasia |
|
Abnormally ossified vertebrae, Depressed nasal bridge, Tapered finger, Pectus excavatum, Squared ... |
ORPHA:2746 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Athyreosis |
|
Macroglossia, Constipation, Abdominal distention, Feeding difficulties |
ORPHA:95713 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Sh... |
ORPHA:1865 |
| Thomas Syndrome |
|
Cleft upper lip, Oligohydramnios, Cleft palate, Dolichocephaly |
ORPHA:3316 |
| Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Underdeveloped nasal alae, Wide nasal bridge, Downturned corners... |
OMIM:601224 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Death in infancy, Camptodactyly of finger, Micrognathia, Gastroesophageal reflux, Narrow mouth, S... |
ORPHA:1495 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Short neck, Abdominal distention, Diarrhea, Vomiting, Protein-losing enteropath... |
OMIM:608104 |
| Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... |
ORPHA:93296 |
| Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Abnormal acetabulum morphology, Abnormality of the epiphysis of the femora... |
OMIM:618641 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Micrognathia, Clinodactyly, Wide nasal bridge, Feeding difficulties, Scoliosis,... |
OMIM:618577 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi... |
ORPHA:93308 |
| Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Coxa valga, Bowing of the legs, Pectus excavatum, Coxa vara, Platyspondyly, ... |
OMIM:619131 |
| Adenylosuccinate Lyase Deficiency |
|
Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum |
ORPHA:46 |
| Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
| Adiposis Dolorosa |
|
Abdominal distention, Constipation |
OMIM:103200 |
| Diastrophic Dysplasia |
|
Bowing of the long bones, Depressed nasal bridge, Camptodactyly of finger, Proximal placement of ... |
ORPHA:628 |
| Whistling Face Syndrome, Recessive Form |
|
Prominent nasal bridge, Shoulder flexion contracture, Underdeveloped nasal alae, Micrognathia, Wh... |
OMIM:277720 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Brachydactyly, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Camptodac... |
ORPHA:1327 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti... |
OMIM:613662 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Epiphyseal stippling, Abnormality of the vertebral column, Short... |
OMIM:302950 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... |
OMIM:271640 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Widely-spaced maxillary central incisors, Oligodontia, Pa... |
ORPHA:363417 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Sacral dimple, Prominent nasal bridge, Broad nasal tip, Micrognathia, S... |
OMIM:613544 |
| Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Depressed nasal bridge, Bowed humerus, Short neck, Ulnar bowing, Fem... |
OMIM:620076 |
| Thanatophoric Dysplasia Type 2 |
|
Depressed nasal bridge, Micromelia, Kyphosis, Platyspondyly, Abnormal metaphysis morphology, Brac... |
ORPHA:93274 |
| Angelman Syndrome |
|
Protruding tongue, Gastrostomy tube feeding in infancy, Dysphagia, Feeding difficulties, Wide mou... |
ORPHA:72 |
| Trisomy 20P |
|
Micrognathia, Short neck, Abnormal form of the vertebral bodies, Downturned corners of mouth, Ver... |
ORPHA:261318 |
| Peho-Like Syndrome |
|
Short nose, Feeding difficulties, Open mouth, Tapered finger |
OMIM:617507 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
| Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Bowing of the long bones, Abnormal dental enamel morphology, Micromelia, Abn... |
ORPHA:1798 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Abnormal pelvic ... |
ORPHA:2928 |
| Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... |
OMIM:619445 |
| Miller-Dieker Syndrome |
|
Sacral dimple, Anteverted nares, Abnormal upper lip morphology, Clinodactyly of the 5th finger, S... |
ORPHA:531 |
| Chondrodysplasia, Blomstrand Type |
|
Depressed nasal bridge, Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advance... |
OMIM:215045 |
| 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 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol... |
ORPHA:3429 |
| Osseous Heteroplasia, Progressive |
|
Limb undergrowth |
OMIM:166350 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Short nose, Brachydactyly |
OMIM:618618 |
| Juvenile Sialidosis Type 2 |
|
Umbilical hernia, Inguinal hernia, Gingival overgrowth, Protruding tongue |
ORPHA:93399 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tented upper lip vermilion, Micrognathia, Short neck, Widely-spaced maxillary central incisors, H... |
OMIM:309580 |
| Kyphomelic Dysplasia |
|
Bowing of the long bones, Micromelia, Missing ribs, Micrognathia, Flat acetabular roof, Abnormal ... |
ORPHA:1801 |
| Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Wide nose, Depressed nasal bridge, Short neck, Bulbous nose, Thick lower lip vermilion, Flared me... |
OMIM:610442 |
| Icf Syndrome |
|
Depressed nasal bridge, Micrognathia, Malabsorption, Protruding tongue, Macroglossia |
ORPHA:2268 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Depressed nasal bridge, Bowel incontinence, Kyphosis, Wide ante... |
OMIM:616482 |
| Thyroid Hemiagenesis |
|
Macroglossia, Constipation, Abdominal distention |
ORPHA:95719 |
| Mohr Syndrome |
|
Micrognathia, Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndacty... |
OMIM:252100 |
| Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Depressed nasal... |
OMIM:608022 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Micrognathia, Metaphyseal widening, Anterior atlanto-occipital dislocation, High palate, Microdon... |
ORPHA:536467 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
| Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... |
ORPHA:1201 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Depressed nasal bridge, Abnormal distal phalanx morphology of finger, Micrognathia, Feeding diffi... |
ORPHA:1387 |
| Volvulus Of Midgut |
|
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... |
OMIM:193250 |
| Schimke Immunoosseous Dysplasia |
|
Lumbar hyperlordosis, Depressed nasal bridge, Ovoid vertebral bodies, Short neck, Bulbous nose, W... |
OMIM:242900 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Kyphosis, Wide mouth, Everted lower lip vermilion, Short philtrum, Scol... |
ORPHA:2429 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, Kyphosis, High palate, Scoliosis, Long philtrum, Short nose |
ORPHA:2598 |
| Pde4D Haploinsufficiency Syndrome |
|
Prominent nose, Micrognathia, Short metatarsal, Irregular vertebral endplates, Short philtrum, Bi... |
ORPHA:439822 |
| Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Micromelia, Aplasia/Hypoplasia of t... |
ORPHA:1597 |
| Baker-Gordon Syndrome |
|
Thin upper lip vermilion, Feeding difficulties, Gastroesophageal reflux, Scoliosis, Prominent nas... |
OMIM:618218 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Thin upper lip vermilion, Anteverted nares, Dental crowding, Sandal gap, Pectus... |
OMIM:617877 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Missing ribs, Short neck, Esophageal a... |
OMIM:619859 |
| Dysosteosclerosis |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Hypoplastic vertebral bodies, Irreg... |
ORPHA:1782 |
| Fontaine Progeroid Syndrome |
|
Micrognathia, High, narrow palate, Anteriorly placed anus, Oligodontia, Gastroesophageal reflux, ... |
OMIM:612289 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Depressed nasal ridge, Gastroesophageal reflux, Thick nasal alae, Hypoplastic ... |
ORPHA:79345 |
| Laron Syndrome |
|
Limb undergrowth, Short long bone |
OMIM:262500 |
| Developmental And Epileptic Encephalopathy 31B |
|
Protruding tongue, Gingival overgrowth, Feeding difficulties, Constipation, Tube feeding |
OMIM:620352 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Abnormal intervertebral disk morphology, Anteverted nares, Carious teeth, Pectus excavatum, Deep ... |
ORPHA:2701 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... |
ORPHA:3258 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Micrognathia, Short thumb, Hypoplasia of th... |
OMIM:227270 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small epiphyses, Pear-shap... |
ORPHA:93356 |
| Microphthalmia With Limb Anomalies |
|
Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Hig... |
OMIM:206920 |
| Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Arachnodactyly, Kyphoscoliosis, Wide distal femoral metaphysis, Femoral bowing... |
OMIM:614856 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p... |
OMIM:609813 |
| 3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Clinodactyly of t... |
ORPHA:2616 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Back pain, Abdominal distention |
OMIM:174050 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Depressed nasal bridge, Anteverted nares, Cleft soft ... |
OMIM:616331 |
| Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Depressed... |
ORPHA:1529 |
| Lowry-Wood Syndrome |
|
Epiphyseal dysplasia, Coxa vara, Irregular epiphyses, Platyspondyly, Abnormal epiphysis morpholog... |
ORPHA:1824 |
| Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal form of the vertebral ... |
ORPHA:1354 |
| Fetal Valproate Spectrum Disorder |
|
Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short no... |
ORPHA:1906 |
| Geroderma Osteodysplastica |
|
Beaking of vertebral bodies, Hip dislocation, Abnormal form of the vertebral bodies, Platyspondyl... |
ORPHA:2078 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Anteverted nares, Cleft soft palate, Broad hallux, Broad nasal tip, Abnormality of the dentition,... |
OMIM:618529 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Short palm,... |
OMIM:268310 |
| Achondrogenesis Type 1B |
|
Anteverted nares, Micromelia, Micrognathia, Short neck, Short foot, Talipes equinovarus, Long phi... |
ORPHA:93298 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Depressed nasal bridge, Anteverted nares, Monkey wrench femoral neck, Micromel... |
OMIM:618870 |
| Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Anteverted nares, Broad nasal tip, Tapered finger, Kyphosis, Th... |
OMIM:300602 |
| Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia, Short nose, Abnormal palate... |
ORPHA:1200 |
| Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose, Long philtrum |
OMIM:125700 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Dental crowding, Micrognathia, Oligodontia, High palate, Short philtrum, Clinodactyly of the 5th ... |
OMIM:617061 |
| Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Feeding difficulties in infancy, Short neck, Coxa vara, High palate, Pu... |
ORPHA:800 |
| Joubert Syndrome 1 |
|
Protruding tongue, Postaxial hand polydactyly, Occipital myelomeningocele, Plagiocephaly, Macrogl... |
OMIM:213300 |
| Jeune Syndrome |
|
Toe syndactyly, Micromelia, Feeding difficulties in infancy, Postaxial hand polydactyly, Postaxia... |
ORPHA:474 |
| Osteogenesis Imperfecta, Type X |
|
Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, Micromelia, Micrognathia, ... |
OMIM:613848 |
| Facial Paresis, Hereditary Congenital, 3 |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Open mouth, F... |
OMIM:614744 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Thin upper lip vermilion, Micrognathia, Feeding difficulties, Wide mouth, Gastroeso... |
OMIM:615419 |
| Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Wide anteri... |
OMIM:610915 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... |
ORPHA:2098 |
| Bruck Syndrome |
|
Bowing of the long bones, Kyphosis, Platyspondyly, Talipes equinovarus, Scoliosis |
ORPHA:2771 |
| Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Micromelia |
ORPHA:85175 |
| Schimke Immuno-Osseous Dysplasia |
|
Wide capital femoral epiphyses, Depressed nasal bridge, Lumbar hyperlordosis, Ovoid vertebral bod... |
ORPHA:1830 |
| Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... |
ORPHA:2496 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Metaphyseal dysplasia, Anteverted nares, Rhizomelia, Micromelia, Short neck,... |
ORPHA:1842 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Thin upper lip vermilion, Death in infancy, Micrognathia, Feeding difficulties, High palate, Scol... |
OMIM:615042 |
| Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Orofa... |
ORPHA:79107 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Cleft upper lip, Absent thumb, Micrognathia, Hypoplasia of the radiu... |
OMIM:602418 |
| Autosomal Dominant Omodysplasia |
|
Short humerus, Depressed nasal bridge, Rhizomelia, Micrognathia, Short palm, Short nose, Short 1s... |
ORPHA:93328 |
| Hurler Syndrome |
|
Depressed nasal bridge, Anteverted nares, Hypoplasia of the femoral head, Broad nasal tip, Coxa v... |
OMIM:607014 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
| 5Q14.3 Microdeletion Syndrome |
|
Toe syndactyly, Anteverted nares, Feeding difficulties, Short philtrum, Short nose, Open mouth |
ORPHA:228384 |
| Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Finger syndactyly, Micrognathia, Short nose, Spina bifida occulta |
ORPHA:1514 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Hemivertebrae, Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th finger, Syndactyly, An... |
OMIM:614701 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Depressed nasal bridge, Anteverted nares, Short metatarsal, Advanced ossificati... |
OMIM:614613 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| Sialuria |
|
Thin upper lip vermilion, Wide nasal bridge, 2-3 toe syndactyly, Macroglossia, High palate, Protu... |
OMIM:269921 |
| Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
| Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
| Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
| Orofaciodigital Syndrome Xv |
|
Broad hallux, Anteverted nares, Postaxial hand polydactyly, Duplication of phalanx of hallux, Wid... |
OMIM:617127 |
| Mucolipidosis Ii Alpha/Beta |
|
Micrognathia, Metaphyseal widening, Death in childhood, Progressive alveolar ridge hypertropy, De... |
OMIM:252500 |
| Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte... |
OMIM:617201 |
| Ohdo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Feeding difficulties in infancy, Wide nas... |
OMIM:249620 |
| Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short distal phalanx of toe, Anteverted nares, Micrognathia, Bilateral triphalangeal thumbs, Dela... |
OMIM:619356 |
| C Syndrome |
|
Short metacarpal, Toe syndactyly, Anteverted nares, Accessory oral frenulum, Micromelia, Microgna... |
OMIM:211750 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh... |
OMIM:300244 |
| Acrofacial Dysostosis, Catania Type |
|
Smooth philtrum, Finger syndactyly, Microretrognathia, Abnormality of the dentition, Carious teet... |
ORPHA:1786 |
| Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Micromelia, Wide nasal bridge, Thin vermilion border, C... |
OMIM:610015 |
| Leber Congenital Amaurosis 4 |
|
Keratoconus |
OMIM:604393 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Carious teeth, Platyspondyly, Scoliosis, Femoral bowing |
OMIM:126550 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Thin upper lip vermilion, Depressed nasal bridge, Long philtrum, Short nose, Smooth philtrum |
ORPHA:438178 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Feeding difficulties in infancy, Short nose, Open mouth, Broad nasal tip |
OMIM:613670 |
| Osteogenesis Imperfecta, Type Vi |
|
Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Biconcave vertebral bodies, Beaki... |
OMIM:613982 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's... |
OMIM:618316 |
| Geroderma Osteodysplasticum |
|
Beaking of vertebral bodies, Hyperextensibility of the finger joints, Kyphoscoliosis, Tibial bowi... |
OMIM:231070 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Wide mouth, Thick lower lip vermilion, Thick upper lip vermilion, Brachycephaly |
OMIM:309545 |
| Dermatitis, Atopic |
|
Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Abnormalit... |
OMIM:612394 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification, Achalasia, Depressed n... |
OMIM:616007 |
| Stickler Syndrome |
|
Micrognathia, Feeding difficulties in infancy, Depressed nasal ridge, Abnormal form of the verteb... |
ORPHA:828 |
| Degcags Syndrome |
|
Prominent nose, Micrognathia, Oral-pharyngeal dysphagia, High palate, Gastroesophageal reflux, Sy... |
OMIM:619488 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Micrognathia, Short neck, Shoulder dislocation, Microdontia, Dislocated radial head, Microretrogn... |
OMIM:245600 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Thin upper lip vermilion, Wide nose, Anteverted nares, Down-sloping shoulders, Kyphoscoliosis, De... |
ORPHA:391408 |
| Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Supernumerary tooth, Bulbous nose, Postaxial hand polydactyly, Tongue... |
OMIM:258850 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Dental crowding, Convex nasal ridge, Micrognathia, Feeding difficulties in infancy, Nasogastric t... |
ORPHA:251028 |
| Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Diastema, Postaxial polydactyly, Genu valgum, Short philt... |
OMIM:619142 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Short thumb, Hip disloca... |
ORPHA:968 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Pectus excavatum, Cleft palate, Glossoptosis, Abnormal metacarpal morphology, Long ... |
ORPHA:166100 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Death in infancy, Micrognathia, Short neck, Abdominal distention, Posta... |
OMIM:235255 |
| 4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Depressed nasal bridge, Micromelia, Abnormality of the dentition, Short neck, Kyp... |
ORPHA:238750 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Micrognathia, Metaphyseal widening, Abnormal finger morphology, Abnormal vertebral morphology, De... |
ORPHA:536471 |
| Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Pectus excavatum, Kyphosis, Platyspondyly, High palate, Narrow iliac wing, Den... |
OMIM:616294 |
| Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Downturned corners of mout... |
ORPHA:1507 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... |
ORPHA:440354 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Micromelia, Micrognathia, Wide nasal bridge, Short long bone, Talipes e... |
OMIM:224410 |
| Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract |
OMIM:204100 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog... |
ORPHA:1836 |
| Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Micrognathia, Long fingers, Ulnar deviation of finger, Downtur... |
ORPHA:1895 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Sandal gap, Tapered... |
OMIM:618430 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Micrognathia, Split hand, Cleft palate, Short nose, Convex nasal r... |
ORPHA:2145 |
| Occipital Horn Syndrome |
|
High, narrow palate, Coxa vara, Humerus varus, Gastroesophageal reflux, Short palm, Large iliac w... |
ORPHA:198 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi... |
ORPHA:2019 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
| Solar Urticaria |
|
Edema, Periorbital edema, Abnormal tongue morphology, Angioedema, Abnormal lip morphology |
ORPHA:97230 |
| Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Short neck, Femoral bowing, Tibial bowing, Smooth tongue, Short tibia, Short phalan... |
OMIM:601559 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Tarsal synostosis, Camptodactyly o... |
ORPHA:2633 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, High palate, Prominent finger... |
OMIM:300558 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Short palm, Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, M... |
ORPHA:171839 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Short neck, Short palm, Syndactyly, Anteverted nares, Cl... |
OMIM:305400 |
| 3C Syndrome |
|
Micrognathia, Feeding difficulties in infancy, High, narrow palate, Short neck, Hemivertebrae, Or... |
ORPHA:7 |
| Al-Raqad Syndrome |
|
Thin upper lip vermilion, Sandal gap, Chronic constipation, Narrow mouth, Short nose, Brachydactyly |
OMIM:616459 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Brachydactyly, Prominent nasal bridge, Intestinal malrotation, Short th... |
ORPHA:401935 |
| Mietens Syndrome |
|
Hypoplasia of the ulna, Wide nose, Coxa valga, Metatarsus adductus, Avascular necrosis of the cap... |
ORPHA:2557 |
| Cardioacrofacial Dysplasia 2 |
|
Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Deep philtrum, Postaxial hand... |
OMIM:619143 |
| Fg Syndrome 5 |
|
Depressed nasal bridge, Anteverted nares, Diastema, Chronic constipation, Long philtrum, Short nose |
OMIM:300581 |
| Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... |
ORPHA:160148 |
| Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Congenital hip dislocation, Anteverted nares, Micrognathia, Short neck, Hyperlord... |
OMIM:615065 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Nausea and vomiting, Feeding difficulties in infancy, Thick vermilion border, Long philtrum, Shor... |
ORPHA:833 |
| Aminopterin Syndrome Sine Aminopterin |
|
Frontal bossing, Inguinal hernia, Syndactyly, Rudimentary postaxial polydactyly of hands, Arachno... |
OMIM:600325 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Hamartoma of tongue, Accessory oral frenulum, Postaxial polydactyly, Micrognathia... |
OMIM:258860 |
| Tetrasomy 18P |
|
Large hands, Thin vermilion border, Scoliosis, Narrow mouth, Short nose, Achalasia, Long philtrum |
ORPHA:3307 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Prominent nose, Micrognathia, Aplasia of the epiglottis, High palate... |
OMIM:268305 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Overlapping toe, Wide nasal br... |
OMIM:619383 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:94066 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Genu valgum, Downturned corners of mouth, Thin vermilion border, Short phil... |
ORPHA:2983 |
| Smith-Kingsmore Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Rhizomelia, Short proximal phalanx of finger, O... |
OMIM:616638 |
| Down Syndrome |
|
Short palm, Aganglionic megacolon, Sandal gap, Protruding tongue, Atlantoaxial instability, Duode... |
OMIM:190685 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:3201 |
| Arthrogryposis, Distal, Type 2A |
|
Dental crowding, Short neck, Feeding difficulties in infancy, High palate, Spina bifida occulta, ... |
OMIM:193700 |
| Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Barrel-shaped chest, Short metacarpal, Rhizomelia, Kyphoscoliosis, Abn... |
ORPHA:263463 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Micrognathia, Unilateral radial aplasia, Feeding difficulties in infancy, Aplasi... |
ORPHA:476126 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Barrel-shaped chest, Metaphyseal dysplasia, Lumbar hyperlordosis, Narrow nose, Short iliac bones,... |
OMIM:607944 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Thin upper lip vermilion, Hyperextensibility of the finger joints, Lumbar hyperlordosis, Thoracol... |
ORPHA:3041 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Bulging epiphyses, Bowing of the legs, Carious teeth, Subperiosteal bo... |
OMIM:277440 |
| Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Abnormal form of the verteb... |
ORPHA:83468 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Prominent nose, Micrognathia, Depressed nasal ridge, Hemivertebrae, Downturned corners of mouth, ... |
OMIM:156200 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to... |
ORPHA:989 |
| 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 |
| Orofaciodigital Syndrome Type 10 |
|
Micrognathia, Short neck, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation o... |
ORPHA:2756 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Tapered finger, Micrognathia, Narrow mouth, Short neck, Wide nasal bridge, Narrow palate, Hypopla... |
OMIM:620250 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Short lingual frenulum, Depressed nasal bridge, Bowed humerus, Wid... |
OMIM:619479 |
| 9Q21.13 Microdeletion Syndrome |
|
Wide nasal ridge, Abnormal tongue morphology, Gastrointestinal dysmotility, Downturned corners of... |
ORPHA:531151 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Micrognathia, Feeding difficulties in infancy, Short neck, Glossoptosis, Vert... |
OMIM:611209 |
| X-Linked Dystonia-Parkinsonism |
|
Protruding tongue |
ORPHA:53351 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Hand clenching, Protruding tongue |
OMIM:619580 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Short nose, Depressed nasal bridge, Hypoplastic ischia |
OMIM:616910 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Broad nasal tip, Clinodactyly, Recurrent upper respiratory tract infections, Feeding difficulties... |
ORPHA:391372 |
| Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,... |
ORPHA:93258 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Death in infancy, Sacral dimple, Vertebral fusion, Short long bone, Vertebral segmentation defect... |
OMIM:618845 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Postaxial hand polydactyly, Long philtrum, Short nose, Abnormal palate morphology |
ORPHA:1389 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxi... |
OMIM:263520 |
| Boomerang Dysplasia |
|
Underdeveloped nasal alae, Absent radius, Wide nasal bridge, Hypoplastic nasal septum, Hypoplasti... |
OMIM:112310 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Depressed nasal bridge, Anteverted nares, Abnormal dental enamel morphology, Prominent nose, Sand... |
ORPHA:2180 |
| Primary Effusion Lymphoma |
|
Abdominal distention, Abdominal pain |
ORPHA:48686 |
| Orofaciodigital Syndrome Xix |
|
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ... |
OMIM:620107 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Tented upper lip vermilion, Sclerotic vertebral body, Kyphosis, Bulbous nose, Metaphyseal widenin... |
OMIM:618476 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Cervical platyspondyly, Anteverted nares, Macrodontia, Downturned corners of mouth, Tooth agenesi... |
OMIM:618731 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Small intestinal dysmotility, Poor appetite, Abdominal pain, Atrophic muscularis propria, Abdomin... |
ORPHA:298 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Prominent nasal bridge, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Platyspond... |
OMIM:619269 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Choanal atresia, Arachnodactyly, M... |
ORPHA:2759 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co... |
OMIM:180700 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... |
OMIM:609945 |
| Orofaciodigital Syndrome Type 5 |
|
Frontal bossing, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral... |
ORPHA:2919 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short neck, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:304120 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Sacral dimple, Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Clinodactyly of the ... |
OMIM:618828 |
| Harel-Yoon Syndrome |
|
Micrognathia, Feeding difficulties, Hip dysplasia, Scoliosis, Short nose |
OMIM:617183 |
| Osteogenesis Imperfecta, Type Xvii |
|
Bowed humerus, Kyphoscoliosis, Dentinogenesis imperfecta, Hip dislocation, Platyspondyly, Vertebr... |
OMIM:616507 |
| Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
| Leber Congenital Amaurosis |
|
Keratoconus, Cataract |
ORPHA:65 |
| Achondrogenesis |
|
Anteverted nares, Micromelia, Micrognathia, Short neck, Long philtrum, Short nose |
ORPHA:932 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Micrognathia, Short neck, Anteriorly placed anus, Downturned corners of mouth, Short phalanx of f... |
OMIM:616894 |
| Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Brachydactyly, Median cleft lip, Hypoplastic scapulae, Intestinal malrotation, Hamar... |
OMIM:269860 |
| Myhre Syndrome |
|
Short palm, Brachydactyly, Submucous cleft hard palate, Cleft palate, Gingival cleft, Abnormal li... |
ORPHA:2588 |
| Acalvaria |
|
Omphalocele, Spina bifida, Postaxial hand polydactyly, Cleft palate, Calvarial skull defect |
ORPHA:945 |
| Microcephaly-Micromelia Syndrome |
|
Wide nose, Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial syno... |
OMIM:251230 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Vertebral fusion, Lumbar hyperlordosis, Dental crowding, Thorac... |
ORPHA:313892 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... |
OMIM:300048 |
| Melanocytic Nevus Syndrome, Congenital |
|
Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtrum, Everted lower lip vermilion... |
OMIM:137550 |
| 19P13.13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Sandal gap, Abdominal pain, P... |
ORPHA:357001 |
| Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption |
OMIM:606824 |
| Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract |
OMIM:204000 |
| Auriculocondylar Syndrome 2A |
|
Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... |
OMIM:614669 |
| Trigonocephaly 1 |
|
High, narrow palate, Wide nasal bridge, Lumbar hemivertebrae, Long philtrum, Short nose, Meckel d... |
OMIM:190440 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... |
OMIM:272460 |
| Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Tapered finger, Feeding difficulties, Hip dysplasia, Hypodontia, Finger join... |
ORPHA:544503 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Broad hallux, Bulbous nose,... |
OMIM:614105 |
| Non-Distal Duplication 13Q |
|
Arachnodactyly, Abnormality of the dentition, Micrognathia, Postaxial hand polydactyly, Thin verm... |
ORPHA:1702 |
| Perlman Syndrome |
|
Anteverted nares, Micrognathia, High, narrow palate, Open mouth, Wide nasal bridge, Abnormal uppe... |
ORPHA:2849 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Smooth philtrum, Dental crowding, Intestinal malrotation, Arachnodactyly, Sandal gap, Long nose, ... |
OMIM:617602 |
| Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micrognathia, Short neck, Depressed nasal ... |
OMIM:616038 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, L... |
OMIM:615866 |
| Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal distention, Constipation, Abdominal pain |
ORPHA:168829 |
| Acrofrontofacionasal Dysostosis |
|
Brachydactyly, Camptodactyly of finger, Micromelia, Broad nasal tip, Non-midline cleft lip, Cleft... |
ORPHA:1784 |
| Smith-Magenis Syndrome |
|
Tented upper lip vermilion, Micrognathia, Feeding difficulties in infancy, Abnormal form of the v... |
ORPHA:819 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Anteverted nares, Micromelia, Genu valgum, High palate, Convex nasal ... |
ORPHA:1035 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele, Bifid uvula, Cleft palate |
OMIM:258320 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones... |
OMIM:614091 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Protruding tongue, Hyperlordosis, Macroglossia, Gastroesophageal reflux, Scoliosis, Dysphagia, Op... |
ORPHA:258 |
| Image Syndrome |
|
Metaphyseal dysplasia, Depressed nasal bridge, Micromelia |
ORPHA:85173 |
| Parietal Foramina 1 |
|
Parietal foramina, Encephalocele, Cleft palate, Cleft upper lip |
OMIM:168500 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Coxa valga, Microgna... |
OMIM:619833 |
| Cleidocranial Dysplasia |
|
Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hypoplastic inferior ilia, Clinodacty... |
ORPHA:1452 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Choanal atresia, Malabsorption, Abd... |
ORPHA:92050 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Platyspondyly, Abnormal intervertebral disk morphology |
ORPHA:1345 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Tented upper lip vermilion, Depressed nasal bridge, Kyphosis, Bulbous nose, Feeding difficulties,... |
ORPHA:261144 |
| Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Cleft pa... |
ORPHA:1358 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Micromel... |
ORPHA:2021 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Barrel-shaped chest, Lumbar hyperlordosis, Rhizomelia, Short neck, Absent nasal bridge, Mesomelia... |
ORPHA:171866 |
| Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract |
OMIM:613835 |
| Holzgreve Syndrome |
|
Turricephaly, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Cleft palate, Hand p... |
ORPHA:2167 |
| Spondylo-Ocular Syndrome |
|
Abnormal intervertebral disk morphology, Short neck, Platyspondyly, Thin vermilion border, Thorac... |
ORPHA:85194 |
| Acrocraniofacial Dysostosis |
|
Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Triphalangeal thumb, Advance... |
ORPHA:949 |
| Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
| Autosomal Dominant Robinow Syndrome |
|
Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormality of the gingiva, Hemiverteb... |
ORPHA:3107 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Depressed nasal bridge, Short neck, Bulbous nose, Clinodactyly, Wide nasal bridge, Do... |
ORPHA:369891 |
| Familial Visceral Myopathy |
|
Aganglionic megacolon, Arachnodactyly, Anteverted nares, Prominent nasal bridge, Camptodactyly of... |
ORPHA:2604 |
| Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Micrognathia, High, nar... |
ORPHA:2879 |
| 16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Tapered finger, High, narrow palate, Bulbous nose, 2-3 toe syndactyly, Wide mouth,... |
ORPHA:485405 |
| Bilateral Perisylvian Polymicrogyria |
|
Choanal atresia, Micrognathia, Protruding tongue, Pectus excavatum, Feeding difficulties, Pseudob... |
ORPHA:98889 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Prominent nose, Micrognathia, Short neck, Delayed epiphyseal ossification, Preaxial p... |
OMIM:210710 |
| Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Anteverted nares, Postaxial polydactyly,... |
OMIM:619879 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius,... |
ORPHA:2476 |
| Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Ham... |
ORPHA:2751 |
| Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Overlapping toe, Short neck, Pectus excavatum, Cleft lip, Bulbous nose, Deep p... |
OMIM:618571 |
| Acro-Renal-Mandibular Syndrome |
|
Micrognathia, Short neck, Hemivertebrae, Orofacial cleft, High palate, Short philtrum, Hypoplasia... |
ORPHA:958 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Short palm, Metaphyseal dysplasia, Anteverted nares, Increased intervertebral space, Thick lower ... |
OMIM:619727 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Depressed nasal ridge, Abnormal form of the... |
ORPHA:175 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Muenke Syndrome |
|
Broad hallux, Capitate-hamate fusion, Clinodactyly, Dental malocclusion, Brachycephaly, Cone-shap... |
OMIM:602849 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Dental crowding, Arachnodactyly, Narrow mouth, High palate, Bilateral talipes equinovarus, Talipe... |
OMIM:615539 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of the ulna, Hamartoma of ... |
OMIM:613091 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Long fingers, Wide nasal bridge, 2-3 toe syndactyly, Feeding difficulties, High p... |
OMIM:218000 |
| Bruck Syndrome 2 |
|
Platyspondyly, Talipes equinovarus, Femoral bowing |
OMIM:609220 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Hypoplasia of the ... |
ORPHA:2249 |
| Bainbridge-Ropers Syndrome |
|
Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge... |
OMIM:615485 |
| Coxoauricular Syndrome |
|
Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Micromelia |
ORPHA:1508 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Short neck, Abnormal soft ... |
ORPHA:884 |
| Malan Syndrome |
|
Coxa valga, Pectus excavatum, Long fingers, Gingival overgrowth, Everted lower lip vermilion, Sco... |
OMIM:614753 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Inguinal hernia, Cleft palate, Tooth agenesis, High palate, Midface retrusion |
ORPHA:1135 |
| Kleefstra Syndrome 2 |
|
Plagiocephaly, Bifid uvula, Everted lower lip vermilion, Midface retrusion |
OMIM:617768 |
| German Syndrome |
|
Camptodactyly of finger, Lymphedema, Brachycephaly, Orofacial cleft, High palate, Everted lower l... |
ORPHA:2077 |
| Trisomy 12P |
|
Micrognathia, Short neck, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Large han... |
ORPHA:1699 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Lumbar hyperlordosis, Metaphyseal wi... |
OMIM:250420 |
| Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Symphalangism affecting the phalanges of the hand, Lateral h... |
ORPHA:2741 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Cle... |
OMIM:239300 |
| Brittle Cornea Syndrome |
|
Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal scarring, Keratoglo... |
ORPHA:90354 |
| Pfeiffer Syndrome |
|
Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the fingers, Depressed nasal... |
OMIM:101600 |
| Coffin-Lowry Syndrome |
|
Feeding difficulties in infancy, Abnormal form of the vertebral bodies, High palate, Widely space... |
ORPHA:192 |
| 3P25.3 Microdeletion Syndrome |
|
Proximal placement of thumb, Prominent nose, Micrognathia, High, narrow palate, Deep philtrum, Do... |
ORPHA:435638 |
| Distal Deletion 10Q |
|
Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, High palate, Clinod... |
ORPHA:96148 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Short neck, Metaphyseal wid... |
OMIM:224400 |
| Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Rocker bottom foot, Micrognathia, Prominent nose, Nasogastric tube feeding in infancy, Tibial bow... |
ORPHA:453510 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Tented upper lip vermilion, Micrognathia, Short neck, Deep philtrum, Hemivertebrae, Tibial bowing... |
ORPHA:96334 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Nonimmune hydrops fetalis, Craniosynostosis, Cleft palate, Plagiocephaly, Decreased calvarial oss... |
OMIM:618265 |
| Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg... |
ORPHA:90652 |
| Joubert Syndrome 18 |
|
Trident pelvis, Bowing of the long bones, Postaxial polydactyly, Kyphoscoliosis, Cleft palate, Lo... |
OMIM:614815 |
| Robinow Syndrome |
|
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty... |
ORPHA:97360 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi... |
ORPHA:93317 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Thin upper lip vermilion, Kyphoscoliosis, Underdeveloped nasal alae, Tapered finger, Short neck, ... |
OMIM:615803 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Anteverted nares, Downturned corners of mouth, Slender long bone, Thick vermilion border, Short n... |
ORPHA:1185 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... |
OMIM:609441 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ... |
ORPHA:261211 |
| Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... |
ORPHA:93323 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Talipes equinovarus, Tented upper lip vermilion, Brachycephaly, Long philtrum |
OMIM:619972 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, ... |
OMIM:264700 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Thin upper lip vermilion, Brachydactyly, Anosmia, Genu valgum, Abnormal metacarpal morphology, Ab... |
ORPHA:1295 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the fibu... |
ORPHA:2256 |
| Craniosynostosis 2 |
|
Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supern... |
OMIM:604757 |
| Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93259 |
| Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Kyphosis,... |
ORPHA:1855 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Thin upper lip vermilion, Depressed nasal bridge, Long nose, Pectus excavatum, Downturned corners... |
OMIM:618590 |
| Occipital Horn Syndrome |
|
Short humerus, Pelvic bone exostoses, Hiatus hernia, Coxa valga, Capitate-hamate fusion, Kyphosis... |
OMIM:304150 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Depressed nasal bridge, Short neck, Kyphosis, Hip dislocation, Wide mouth, Long philtrum, Short nose |
OMIM:608776 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Feeding difficulties, Ch... |
OMIM:616430 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Tongue atrophy, Talipes equinovarus, Kyphoscoliosis, Dysphagia |
ORPHA:496689 |
| Pycnodysostosis |
|
Prominent nose, Micrognathia, High palate, Hypoplastic iliac wing, Rhizomelia, Persistence of pri... |
ORPHA:763 |
| Au-Kline Syndrome |
|
Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Gastroesoph... |
OMIM:616580 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Broad nasal tip, Micrognathia, Abdominal distention, Postaxial hand pol... |
ORPHA:1655 |
| Fucosidosis |
|
Cervical platyspondyly, Barrel-shaped chest, Wide nose, Absent/hypoplastic paranasal sinuses, Dep... |
OMIM:230000 |
| Myhre Syndrome |
|
Short neck, Short philtrum, Hypoplastic iliac wing, Vertebral fusion, Cleft lip, Short toe, 2-3 t... |
OMIM:139210 |
| Cranioectodermal Dysplasia 1 |
|
High, narrow palate, Widely spaced teeth, High palate, Microdontia, Anodontia, Anteverted nares, ... |
OMIM:218330 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia... |
OMIM:616300 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... |
OMIM:617604 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Median cleft lip, Toe syndactyly, Underdeveloped nasal alae, Aplasia/Hypoplasi... |
ORPHA:1234 |
| Wolman Disease |
|
Nausea and vomiting, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea, Hepatic f... |
ORPHA:75233 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
11 pairs of ribs, Hyperextensibility of the finger joints, Prominent nasal bridge, Micrognathia, ... |
OMIM:618356 |
| Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cutaneous syndact... |
OMIM:270400 |
| Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Underdeveloped nasal... |
ORPHA:364577 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Depressed nasal bridge, Preaxial hand polydactyly, Foot polydactyly, Lympho... |
ORPHA:210548 |
| Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Micrognathia, Short neck, High, narrow palate, Supernumerary tooth, Bulbous no... |
ORPHA:1787 |
| 16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Anteverted nares, Clef... |
ORPHA:261236 |
| Cousin Syndrome |
|
Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... |
OMIM:260660 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Abnormal limb bone morphology |
ORPHA:2204 |
| Tetrasomy 5P |
|
Anteverted nares, Overlapping toe, Short hallux, Micrognathia, Short neck, Long fingers, Wide ant... |
ORPHA:3309 |
| Pallister-Hall Syndrome |
|
Hemivertebrae, Anteriorly placed anus, Neonatal death, Distal shortening of limbs, Syndactyly, Me... |
OMIM:146510 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Thick nasal alae, Micrognathia, Feeding difficulties, Dysphagia, Short nose, Meckel diverticulum,... |
ORPHA:163961 |
| Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... |
OMIM:277320 |
| Tarp Syndrome |
|
Anteverted nares, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hepa... |
OMIM:311900 |
| Osteoglosphonic Dysplasia |
|
Anteverted nares, Choanal atresia, Rhizomelia, Micrognathia, Abnormal form of the vertebral bodie... |
ORPHA:2645 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Dental crowding, Prominent nasal bridge, Oral-pharyngeal dysphagia, Long nose, ... |
OMIM:619184 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D... |
OMIM:605282 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Feeding difficulties in infancy, High palate, Clin... |
ORPHA:570 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Micromelia |
OMIM:273680 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Short nose, Depressed nasal bridge, Metaphyseal dysplasia |
OMIM:614732 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Feeding difficulties, Downturned corners of mouth, Widely spaced teeth, E... |
OMIM:617865 |
| 3Q29 Microdeletion Syndrome |
|
Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Tapered finger, Pectus exc... |
ORPHA:65286 |
| Peho Syndrome |
|
Tented upper lip vermilion, Tapered finger, Feeding difficulties in infancy, Short nose, Open mouth |
OMIM:260565 |
| Osteogenesis Imperfecta, Type Xviii |
|
Bowing of the long bones, Micrognathia, Abnormality of the dentition, Wide nasal bridge, Femoral ... |
OMIM:617952 |
| Baller-Gerold Syndrome |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b... |
ORPHA:1225 |
| Retinitis Pigmentosa |
|
Keratoconus, Cataract |
ORPHA:791 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Broad metacarpal... |
OMIM:259600 |
| Oculodentodigital Dysplasia |
|
Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Microdontia, Prematur... |
OMIM:164200 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Feeding difficulties, Gastroesophageal... |
OMIM:620292 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Craniosynostosis, Pyloric stenosis, Brachycephaly, Hig... |
ORPHA:314575 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Arachnodactyly, Overlapping toe, Thoracolumbar scoliosis, Underdeveloped nasal alae, Metatarsus a... |
ORPHA:436003 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Congenital hip dislocation, Anteverted nares, Carious teeth, Feeding difficulties in infancy, Wid... |
OMIM:219200 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Micrognathia, ... |
OMIM:217980 |
| Intellectual Disability-Strabismus Syndrome |
|
Depressed nasal bridge, Rocker bottom foot, Narrow nasal ridge, Prominent nose, Abnormality of th... |
ORPHA:363528 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Micrognathia, Symphalangism affecting the phalanges of the hand, Duodena... |
ORPHA:2547 |
| Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Shoulder flexio... |
OMIM:620369 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Underdeveloped nasal alae, Micrognathia, Short neck, Metaphyseal wid... |
OMIM:263210 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy |
ORPHA:103910 |
| Mulibrey Nanism |
|
Frontal bossing, Dental crowding, Dental malocclusion, Hydrops fetalis, Hypodontia, Dolichocephal... |
OMIM:253250 |
| Kinsship Syndrome |
|
Micrognathia, Short neck, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Gastr... |
OMIM:619297 |
| Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Bulbous nose, Wide nasal bridge, ... |
OMIM:617809 |
| Prader-Willi Syndrome Due To Translocation |
|
Prominent nose, Micrognathia, Nasogastric tube feeding in infancy, Feeding difficulties in infanc... |
ORPHA:177907 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Kyphoscoliosis, Hip dislocation, Wide nasal bridge, Feeding difficulties, High palate, Limb under... |
OMIM:618005 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Choanal atresia, Abdominal distention, Secretory diarrhea, Cleft palate, ... |
OMIM:270420 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Micrognathia, Feeding difficulties, Hip dysplasia, Scoliosis, Short nose |
ORPHA:496790 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Prominent nasal bridge, Hand oligodactyly, Fibular hypoplas... |
ORPHA:1788 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Depressed nasal bridge, Anteverted nares, Dental crowding, Underdeveloped nasal alae, Micrognathi... |
OMIM:619005 |
| Antley-Bixler Syndrome |
|
Anteverted nares, Choanal atresia, Arachnodactyly, Camptodactyly of finger, Cleft palate, Femoral... |
ORPHA:83 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
| Becker Nevus Syndrome |
|
Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Scoliosis, Spina bifida occulta |
ORPHA:64755 |
| Developmental And Epileptic Encephalopathy 75 |
|
Anteverted nares, Feeding difficulties in infancy, Wide nasal bridge, Short philtrum, Decreased l... |
OMIM:618437 |
| Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Anteverted nares, Cleft upper lip, Short neck, Duplication of phalanx o... |
OMIM:243310 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Short palm, Wide nose, Depressed nasal bridge, Micromelia, Cleft upper lip, Micrognathia, Esophag... |
ORPHA:93271 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Abdominal distention, Depressed nasal bridge, Anteverted nares |
OMIM:618528 |
| Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
| Oculodentodigital Dysplasia |
|
Micrognathia, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Broad colume... |
ORPHA:2710 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, P... |
OMIM:615398 |
| Fraser Syndrome 2 |
|
Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Short neck, Abdominal distention, R... |
OMIM:617666 |
| Folinic Acid-Responsive Seizures |
|
Abdominal distention |
ORPHA:79097 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
| 20Q11.2 Microduplication Syndrome |
|
Sacral dimple, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Pectus excav... |
ORPHA:363659 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Hypoplas... |
OMIM:617895 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Anteverted nares, Arachnodactyly, Bulbous nose, Thin vermilion border, Long philtrum, Short nose,... |
OMIM:616420 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Anteverted nares, Prominent nasal bridge, Dental crowdin... |
OMIM:309583 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Anteverted nares, Overlapping toe, Underdeveloped nasal alae, Carious teeth, Micrognathia, Feedin... |
OMIM:613026 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly... |
OMIM:614416 |
| Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Micromelia, Short neck, Long philtrum, Short nose, Adducted thumb |
ORPHA:50810 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Allergic rhinitis, Pectus excavatum, 2-3 toe syndactyly, Feeding difficulties, Irregu... |
OMIM:618162 |
| Ovarian Fibroma |
|
Abdominal distention, Odontogenic keratocysts of the jaw, Abdominal pain |
ORPHA:314473 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Depressed nasal bridge, Anteverted nares, Diarrhea, Recurrent upper respiratory tract infections,... |
OMIM:614069 |
| Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, Feeding difficulties, High palat... |
OMIM:618774 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Abdominal distention |
ORPHA:369 |
| Weiss-Kruszka Syndrome |
|
Anteverted nares, Exaggerated cupid's bow, Proximal placement of thumb, Feeding difficulties, Cli... |
OMIM:618619 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Aganglionic megacolon, Prominent nasal bridge, Tapered finger, Bulbous nose, Interphalangeal thum... |
OMIM:613870 |
| Anterior Cutaneous Nerve Entrapment Syndrome |
|
Back pain, Anorexia, Abdominal pain, Abdominal distention, Recurrent infection of the gastrointes... |
ORPHA:51890 |
| Nicolaides-Baraitser Syndrome |
|
Short lingual frenulum, High, narrow palate, Short metatarsal, Prominent interphalangeal joints, ... |
OMIM:601358 |
| Hypomandibular Faciocranial Dysostosis |
|
Aplasia/Hypoplasia of the tongue, Craniosynostosis, Polyhydramnios, Narrow mouth, Brachycephaly, ... |
ORPHA:1790 |
| Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93260 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Gastroesophageal reflux, Short nose, Tented upper lip vermilion, Short philtrum |
ORPHA:85277 |
| Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... |
OMIM:163400 |
| Dpm1-Cdg |
|
Tented upper lip vermilion, Depressed nasal bridge, Sandal gap, Micrognathia, High, narrow palate... |
ORPHA:79322 |
| Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Distal widening of metacarpals, Coxa vara, Anteriorly pl... |
OMIM:602535 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Prominent nasal bridge, Abnormal morphology o... |
ORPHA:1307 |
| Cohen Syndrome |
|
Micrognathia, Feeding difficulties in infancy, High, narrow palate, Short philtrum, Clinodactyly ... |
ORPHA:193 |
| Microtriplication 11Q24.1 |
|
Keratoconus, Synophrys, Long eyelashes, Thick eyebrow |
ORPHA:289522 |
| Osteogenesis Imperfecta, Type Xi |
|
Protrusio acetabuli, Kyphoscoliosis, Coxa vara, Vertebral wedging, Scoliosis, Biconcave vertebral... |
OMIM:610968 |
| Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Depressed nasal b... |
ORPHA:140 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology, Depressed nasal ridge |
ORPHA:1861 |
| Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Pectus excavatum, Bulbous... |
ORPHA:2752 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Episodic vomiting, Nausea |
ORPHA:100924 |
| Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Short mandibular rami |
OMIM:141300 |
| Geleophysic Dysplasia 1 |
|
Short palm, Anteverted nares, Camptodactyly of finger, Coxa valga, Pectus excavatum, Hypoplasia o... |
OMIM:231050 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Short nose, Sandal gap, Long philtrum |
OMIM:300887 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... |
ORPHA:1106 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Dental crowding, Narrow nasal ridge, Micrognathia, Premature loss of te... |
OMIM:608612 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Frontal bossing, Conical tooth, Abnormality of the dentition, Brachycephaly, Intra... |
ORPHA:228390 |
| Deafness-Craniofacial Syndrome |
|
Frontal bossing, Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tong... |
ORPHA:3241 |
| Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Sandal gap, Hamartoma of tongu... |
OMIM:174300 |
| Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Metaphyseal widening, Abnormal tibia morphology, Abnor... |
ORPHA:321 |
| Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Wide nasal... |
OMIM:619124 |
| Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Keratoglobus, Astigmatism |
OMIM:108145 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Abdominal distention, Hemivertebrae,... |
OMIM:271520 |
| Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... |
ORPHA:2753 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Vertebral fusion, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, M... |
OMIM:227330 |
| Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Anteverted nares, Aganglionic megacolon, Esophageal atresia... |
ORPHA:59315 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Dental crowding, Micrognathia, Feeding difficulties in infancy, Deep philtrum, Gingivitis, Period... |
ORPHA:534 |
| Fetal Hydantoin Syndrome |
|
Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Triphalangeal thumb... |
ORPHA:1912 |
| Radio-Renal Syndrome |
|
Depressed nasal bridge, Micromelia, Micrognathia, Short neck, High, narrow palate, Hypoplasia of ... |
ORPHA:3015 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathia, Feeding difficultie... |
OMIM:610536 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Tarsal synostosis, Spina bifida, Camptodactyly of finger, High, narrow palate,... |
ORPHA:957 |
| Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Micrognathia, Hemivertebrae, Gastroesophageal reflux, Dysplastic sacrum,... |
OMIM:134780 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Microdontia, B... |
OMIM:613458 |
| Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Abnormal vertebral morphology, Progressive forear... |
OMIM:600383 |
| Malignant Peritoneal Mesothelioma |
|
Abdominal distention, Ileus, Abdominal pain |
ORPHA:168811 |
| Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis |
OMIM:615220 |
| Peritoneal Cystic Mesothelioma |
|
Abdominal distention, Constipation, Abdominal pain |
ORPHA:168816 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Rocker bottom foot, Micrognathia, Recurrent upper respiratory tract i... |
ORPHA:3078 |
| Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Keratoconus |
OMIM:609438 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head |
OMIM:605274 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Camptodactyly of finger, Prominent nasal bridge, Underdeveloped nasal alae, Micrognathia, Short n... |
ORPHA:2083 |
| Frank-Ter Haar Syndrome |
|
Anterior concavity of thoracic vertebrae, Micrognathia, High palate, Short palm, Short phalanx of... |
OMIM:249420 |
| Distal Duplication 5Q |
|
Hypoplasia of the ulna, Brachydactyly, Prominent nasal bridge, Absent thumb, Carious teeth, Micro... |
ORPHA:96097 |
| Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Depressed nasal bridge, Anteverted nares, Dental crowding,... |
OMIM:145420 |
| Lymphatic Malformation 5 |
|
Facial edema, Predominantly lower limb lymphedema, Cleft palate |
OMIM:153200 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platyspondyly... |
OMIM:259770 |
| Schisis Association |
|
Omphalocele, Encephalocele, Spina bifida, Micromelia, Anencephaly, Tracheoesophageal fistula, Cle... |
ORPHA:63862 |
| Oculogastrointestinal Muscular Dystrophy |
|
Spontaneous esophageal perforation, Gastroparesis, Intestinal pseudo-obstruction, Malabsorption, ... |
ORPHA:1876 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Frontal bossing, Clinodactyly, Brachycephaly, Plagiocephaly, Macroglossia, Wide mouth, Everted lo... |
OMIM:616789 |
| Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Micrognathia, High palate, Scoliosis, Short nose |
ORPHA:1913 |
| Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Non-midline cleft lip, Cleft palate, Ve... |
ORPHA:1915 |
| Lead Poisoning |
|
Delayed eruption of teeth, Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Vomiting,... |
ORPHA:330015 |
| Alpha-Mannosidosis, Infantile Form |
|
Depressed nasal bridge, Short neck, Pectus excavatum, Genu valgum, Macroglossia, Cortical thicken... |
ORPHA:309282 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Feeding diffi... |
ORPHA:314655 |
| Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... |
OMIM:602080 |
| Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal distention, V... |
OMIM:613070 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... |
OMIM:164900 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous cleft hard palate, Posteriorly ... |
OMIM:192445 |
| Trisomy 8Q |
|
Camptodactyly of finger, Micrognathia, Short neck, Non-midline cleft lip, Wide nasal bridge, Clef... |
ORPHA:1752 |
| Cardiospondylocarpofacial Syndrome |
|
Brachydactyly, High, narrow palate, Abnormal form of the vertebral bodies, Short palm, Failure of... |
ORPHA:3238 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Micrognathia, Short neck, Hemivertebrae, High palate, Ve... |
OMIM:213980 |
| Dermotrichic Syndrome |
|
Aganglionic megacolon, Short nose, Depressed nasal bridge, Abnormal vertebral morphology |
ORPHA:99688 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Underdeveloped nasal alae, Prominent nose, Wide nasal bridge, Coxa vara, Tooth agenes... |
ORPHA:2637 |
| Campomelic Dysplasia |
|
Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,... |
OMIM:114290 |
| Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Depressed nasal bridge, Short metatarsal, Spinal canal st... |
OMIM:608328 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Und... |
OMIM:300912 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose, Feeding difficulties, Arachnodactyly, Micrognathia |
ORPHA:1129 |
| Geleophysic Dysplasia 2 |
|
Thin upper lip vermilion, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot, Short palm, ... |
OMIM:614185 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Highly arched eyebrow, Hirsutism, Decreased corneal thickness |
ORPHA:293967 |
| Enlarged Parietal Foramina |
|
Occipital encephalocele, Craniosynostosis, Parietal foramina, Cleft lip, Myelomeningocele, Cleft ... |
ORPHA:60015 |
| Donohue Syndrome |
|
Abdominal distention, Thick lower lip vermilion, Gingival overgrowth, Wide mouth, Large hands |
OMIM:246200 |
| Apert Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, De... |
ORPHA:87 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Prominent nose, Abnormal carpal morphology, Hip dysplasia, Limb undergrowth, Lumbar scoliosis, Cl... |
ORPHA:319675 |
| Distal Deletion 9P |
|
Abnormality of the dentition, Short neck, High, narrow palate, Wide nasal bridge, Cleft palate, S... |
ORPHA:1642 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Celiac disease, Bulbous nose, Absent cupid's bow, Feedin... |
ORPHA:284169 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Aplasia/Hypoplasia of the ulna |
ORPHA:2491 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Micrognathia, Preaxial hand polydactyly, Cleft palate, Feeding difficult... |
ORPHA:79113 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Anteverted nares, Prominent nasal bridge, Feeding difficulties in infancy, Feeding difficulties, ... |
ORPHA:500159 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Wide nasal bri... |
OMIM:614207 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Short neck, Nasogastric tube feeding in infancy, Metaphyseal widening, Irregular vertebral endpla... |
ORPHA:99646 |
| Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Anteverted nares, Depressed nasal bridge, Sandal gap, Underdeveloped nasal ala... |
OMIM:616835 |
| Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Rectal prolapse, Thick nasal septum, High palate, Widely... |
OMIM:303600 |
| Currarino Syndrome |
|
Absence of the sacrum, Anal stenosis, Hemisacrum, Perianal abscess, Gastrointestinal obstruction,... |
OMIM:176450 |
| Trisomy 10P |
|
Thumb contracture, Depressed nasal bridge, Anteverted nares, Abnormality of the nose, Micrognathi... |
ORPHA:171929 |
| Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Widely spaced teeth, Gastroesophageal reflux, Short 4th toe, Mi... |
OMIM:615873 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... |
ORPHA:2502 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Dep... |
OMIM:225400 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Inguinal hernia, Crowded maxillary incisors, Abnormal femur morphology, Narrow palate, Abnormal f... |
ORPHA:2063 |
| Thyroid Hypoplasia |
|
Macroglossia, Constipation, Abdominal distention |
ORPHA:95720 |
| C Syndrome |
|
Micromelia, Micrognathia, Short neck, High palate, Clinodactyly of the 5th finger, Dislocated rad... |
ORPHA:1308 |
| Melkersson-Rosenthal Syndrome |
|
Edema, Periorbital edema, Cheilitis, Furrowed tongue, Macroglossia |
ORPHA:2483 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Cervical kyphosis, Kyphoscoliosis, Tapered finger, C... |
ORPHA:2953 |
| Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Depressed nasal bridge, Anteverted nares, I... |
OMIM:244450 |
| Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Anorexia, Malabsorption, Tapered finger, Abdominal pain, Diarrhea, Hypogeus... |
ORPHA:2930 |
| Osteogenesis Imperfecta, Type Vii |
|
Death in infancy, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversion, Bow... |
OMIM:610682 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad hallux, Broad nasal tip, ... |
OMIM:614749 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Abdominal distention, Gastroesophageal reflux, Death in infancy, Feeding difficulties |
OMIM:620275 |
| Pontocerebellar Hypoplasia, Type 1B |
|
Tongue atrophy, Hip dislocation, Tongue fasciculations, Feeding difficulties |
OMIM:614678 |
| Jacobsen Syndrome |
|
Short neck, Feeding difficulties in infancy, Abnormal form of the vertebral bodies, Long hallux, ... |
ORPHA:2308 |
| Alg9-Cdg |
|
Villous atrophy, Micrognathia, Short neck, Narrow greater sciatic notch, Vomiting, Gastroesophage... |
ORPHA:79328 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Lactose intolerance, Depressed nasal bridge, Wide mouth, Protuberant abdomen, Long philtrum, Open... |
ORPHA:457485 |
| Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Micrognathia, Thick lower... |
ORPHA:560 |
| Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Micrognathia, Short neck, Narrow palate, Femoral bowing, Macroglossia, Short ... |
OMIM:617022 |
| Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syn... |
ORPHA:93322 |
| Nablus Mask-Like Facial Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Short hallux, Abnormality of ... |
OMIM:608156 |
| Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Aplasia of the nasal bone, Brachydactyly, Prominent nasal bridge, Micr... |
OMIM:601812 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Short nose, Tented upper lip vermilion, Dental crowding, Open mouth |
OMIM:300143 |
| Feingold Syndrome |
|
Hallux valgus, Brachydactyly, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micrognat... |
ORPHA:1305 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Depressed nasal bridge, Esophageal diverticulum, Hamartoma of tongue, Postaxial poly... |
OMIM:617925 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Scoliosis, Brachydactyly |
OMIM:613819 |
| Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Micrognathia, Feeding difficulties in infancy, Short nec... |
OMIM:115150 |
| Auriculocondylar Syndrome 1 |
|
Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-... |
OMIM:602483 |
| Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hume... |
ORPHA:93333 |
| Alkuraya-Kucinskas Syndrome |
|
Depressed nasal bridge, Anteverted nares, Overlapping toe, Micrognathia, Cutaneous syndactyly, Hi... |
OMIM:617822 |
| Dend Syndrome |
|
Anteverted nares, Downturned corners of mouth, Vomiting, Long philtrum, Clinodactyly of the 4th f... |
ORPHA:79134 |
| Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ... |
OMIM:277170 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Abdominal distention, Death in infancy, Death in childhood |
OMIM:619423 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Flat occiput, Intestinal malrotation, Bilateral cleft lip and palate, Clinodactyly of the 5th fin... |
ORPHA:2001 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Kyphosis, Postaxial hand polyda... |
ORPHA:2916 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, De... |
ORPHA:289157 |
| Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain |
ORPHA:83469 |
| Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Brachydactyly, Cleft palate, Clinodactyly, Short nose, Short distal phalanx of finger |
OMIM:614261 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Pyloric stenosis, Wide anterior fontanel, S... |
ORPHA:457279 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Brachydactyly, Pectus excavatum of inferior sternum, Depressed nasal br... |
OMIM:601353 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Micrognathia... |
ORPHA:1974 |
| Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... |
OMIM:155310 |
| Menke-Hennekam Syndrome 1 |
|
Micrognathia, Deep philtrum, Depressed nasal ridge, Cutaneous syndactyly of toes, High palate, Sh... |
OMIM:618332 |
| Spondyloocular Syndrome |
|
Long toe, Femur fracture, Arachnodactyly, Duodenal ulcer, Abnormality of the dentition, Overlappi... |
OMIM:605822 |
| Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting |
ORPHA:35710 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Tented upper lip vermilion, Rocker bottom foot, Microgna... |
ORPHA:521426 |
| Meckel Syndrome, Type 9 |
|
Limb undergrowth, Talipes equinovarus |
OMIM:614209 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fingers... |
OMIM:617527 |
| Polyembryoma |
|
Abdominal distention, Abnormal sacrum morphology, Abdominal pain |
ORPHA:180229 |
| Catel-Manzke Syndrome |
|
Micrognathia, Short neck, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid uvula,... |
OMIM:616145 |
| Diamond-Blackfan Anemia 8 |
|
Short nose, Thick upper lip vermilion, Wide nasal bridge |
OMIM:612563 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent na... |
OMIM:618454 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
| Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge |
OMIM:200130 |
| Seckel Syndrome 2 |
|
Micrognathia, Prominent nose, Clinodactyly of the 5th finger, Microdontia, Microglossia |
OMIM:606744 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations |
OMIM:613435 |
| Auriculocondylar Syndrome |
|
Dental crowding, Hamartoma of tongue, Micrognathia, Narrow mouth, Microglossia, Dental malocclusi... |
ORPHA:137888 |
| Kagami-Ogata Syndrome |
|
Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Coxa valga, Micrognathia, Long fingers,... |
OMIM:608149 |
| Endocrine-Cerebroosteodysplasia |
|
Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, Thick upper lip vermilion, Median ... |
OMIM:612651 |
| Campomelia, Cumming Type |
|
Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Clubbing o... |
ORPHA:1318 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, High palate, Scoliosi... |
ORPHA:329178 |
| Hypertrichosis Cubiti |
|
Rhizomelia, Prominent nasal bridge, Micromelia |
ORPHA:2220 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Frontal open bite, Micrognathia, Wide anterior fontanel, Short toe, Gingival overgrowth, Gingival... |
OMIM:225410 |
| Gonadoblastoma |
|
Abdominal distention, Abdominal pain |
ORPHA:206484 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Depressed nasal bridge, Abnormal dental enamel morphology, Sandal gap, Feeding difficulties in in... |
ORPHA:1812 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Broad nasal tip, Thickened cortex of long bones, Short neck, Small hand, Depressed nasal tip, Sho... |
ORPHA:488434 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Clubbing, Hamartomatous polyposis,... |
OMIM:175500 |
| Toluene Embryopathy |
|
Micrognathia, Tapered finger, Thin vermilion border, Short nose, Smooth philtrum |
ORPHA:1920 |
| Osteogenesis Imperfecta, Type Iv |
|
Biconcave flattened vertebrae, Kyphosis, Scoliosis, Femoral bowing present at birth, straightenin... |
OMIM:166220 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Anteverted nares, Underdeveloped nasal alae, Glossoptosis, Clinodactyly of the 5th finger, Short ... |
ORPHA:2031 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy, Talipes equinovarus, Scoliosis |
OMIM:616155 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Alopecia, Conjunctivitis, Sparse hair |
OMIM:242150 |
| Celiac Disease, Susceptibility To, 1 |
|
Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Vomiting, Recurrent aphthous stom... |
OMIM:212750 |
| Deeah Syndrome |
|
Death in infancy, Cervical hemivertebrae, Overlapping fingers, Malabsorption, Short neck, Chronic... |
OMIM:619004 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Prominent nasal bridge, Hamartoma of tongue, Broad nasal tip, ... |
ORPHA:2754 |
| Inflammatory Pseudotumor Of The Liver |
|
Abdominal distention, Vomiting, Nausea, Abdominal pain |
ORPHA:90003 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Depressed nasal bridge, Micrognathia, Wide nasal bridge, Feeding difficulties, Macroglossia, Meso... |
OMIM:613457 |
| 8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Prominent nasal bridge, Proximal placement of thumb, Tapered finger, Microg... |
ORPHA:251071 |
| Wiedemann-Steiner Syndrome |
|
Thin upper lip vermilion, Aplasia/Hypoplasia of the ribs, Sacral dimple, Rhizomelia, Tapered fing... |
ORPHA:319182 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue atrophy, Hammertoe, Talipes equinovarus, Tongue fasciculations, Scoliosis |
OMIM:601596 |
| Hypoglossia With Situs Inversus |
|
Micrognathia, Feeding difficulties in infancy, Malnutrition, High palate, Hypodontia, Narrow mout... |
OMIM:612776 |
| Peho Syndrome |
|
Anteverted nares, Tapered finger, Open mouth, Gingival overgrowth, Feeding difficulties, Abnormal... |
ORPHA:2836 |
| Gomez-Lopez-Hernandez Syndrome |
|
Anteverted nares, Wide anterior fontanel, Thin vermilion border, High palate, Short nose, Smooth ... |
OMIM:601853 |
| Cog1-Cdg |
|
Thin upper lip vermilion, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valg... |
ORPHA:263508 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Femoral bowing, Anteriorly placed anus, Choanal stenosis, Gastroesophageal r... |
ORPHA:95699 |
| Lipoid Proteinosis |
|
Nasal polyposis, Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip ver... |
ORPHA:530 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diarrhea, Chronic diarrhea, Platyspondyly, Abnormal pelvic girdle bone morphology, Growth arrest ... |
OMIM:102700 |
| Osteogenesis Imperfecta, Type I |
|
Biconcave flattened vertebrae, Femoral bowing, Hip dysplasia, Finger joint hypermobility, Dentino... |
OMIM:166200 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, Depressed nasal bridge, Anteverted nares, Micrognathia, Open mouth, Cleft palate, ... |
OMIM:614080 |
| Aspartylglucosaminuria |
|
Depressed nasal bridge, Anteverted nares, Kyphosis, Diarrhea, Thick lower lip vermilion, Hypoplas... |
OMIM:208400 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hip contracture, Bowing of the long bones, Choanal atresia, Micrognathia, Metaphyseal cupping, Me... |
OMIM:156400 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Nausea and vomiting, Back pain, Abnormal thoracic spine morphology, Anorexia, Abdominal distentio... |
ORPHA:370348 |
| Muenke Syndrome |
|
Tarsal synostosis, High, narrow palate, Brachycephaly, Plagiocephaly, Short foot, Short palm, Car... |
ORPHA:53271 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Dental crowding, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Gastroesophage... |
OMIM:301044 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Flat occiput, High, narrow palate, Submucous cleft ha... |
ORPHA:2780 |
| Microform Holoprosencephaly |
|
Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr... |
ORPHA:280200 |
| Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy |
OMIM:254300 |
| Fanconi-Bickel Syndrome |
|
Abdominal distention, Bowing of the long bones, Hepatic failure |
ORPHA:2088 |
| Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
| Frontofacionasal Dysplasia |
|
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Depressed nasal ... |
ORPHA:1791 |
| Desmosterolosis |
|
Depressed nasal bridge, Intestinal malrotation, Micromelia, Abnormality of the nose, Metatarsus a... |
ORPHA:35107 |
| Nephrotic Syndrome, Type 1 |
|
Pyloric stenosis, Gastroesophageal reflux, Abdominal distention |
OMIM:256300 |
| Lathosterolosis |
|
Abnormal thoracic spine morphology, Toe syndactyly, Anteverted nares, Micrognathia, Bulbous nose,... |
ORPHA:46059 |
| Myopathy, Myofibrillar, 7 |
|
Tongue atrophy, Lumbar hyperlordosis, Shoulder flexion contracture, Bowel incontinence, Spinal ri... |
OMIM:617114 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Microretrognathia, Sacral dimple, Aganglionic megacolon, Tapered finger, Wide nasal bridge, Short... |
OMIM:613603 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir... |
ORPHA:1422 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognathia, Non-midline cleft l... |
ORPHA:1908 |
| Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Prominent nose, Long nose, Carious teeth, Bulbous nose, Missing ribs, Depresse... |
ORPHA:2769 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Tapered finger, Micrognathia, Spinal r... |
OMIM:254940 |
| Donnai-Barrow Syndrome |
|
Wide anterior fontanel, Short nose, Depressed nasal bridge, Intestinal malrotation |
ORPHA:2143 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Short neck, Pectus excavatum, Kyph... |
ORPHA:77301 |
| Chylomicron Retention Disease |
|
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption |
ORPHA:71 |
| Unilateral Ocular Duplication |
|
Encephalocele, Frontal bossing, Median cleft lip, Polyhydramnios, Cleft palate, Dolichocephaly |
ORPHA:3374 |
| Aica-Ribosiduria |
|
Wide mouth, Thin upper lip vermilion, Brachycephaly |
ORPHA:250977 |
| 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 |
| Cerebrofaciothoracic Dysplasia |
|
Wide nose, Cleft upper lip, Short neck, Hemivertebrae, Cleft palate, Wide mouth, Vertebral segmen... |
ORPHA:1394 |
| Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... |
OMIM:225500 |
| Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Tented upper lip vermilion, Short neck, Pectus excavatum, High, narr... |
ORPHA:488632 |
| Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, A... |
ORPHA:2750 |
| Hydrolethalus |
|
Micromelia, Micrognathia, Postaxial hand polydactyly, Submucous cleft hard palate, Cleft palate, ... |
ORPHA:2189 |
| Pediatric Systemic Lupus Erythematosus |
|
Abdominal pain, Abdominal distention, Diarrhea, Oral ulcer, Vomiting |
ORPHA:93552 |
| Colonic Atresia |
|
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Acroosteolysis of distal phalanges (feet), Abnormal fingerti... |
ORPHA:90154 |
| Waardenburg Syndrome Type 1 |
|
Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Underdeveloped nasal alae, Wi... |
ORPHA:894 |
| Leber Congenital Amaurosis 9 |
|
Keratoconus |
OMIM:608553 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius, Cleft palate, Cleft upper lip |
OMIM:179400 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Anteverted nares, Kyphosis, 2-3 toe syndactyly, Cleft palate, Furrowe... |
OMIM:616449 |
| Meckel Syndrome, Type 2 |
|
Omphalocele, Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand poly... |
OMIM:603194 |
| Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Short neck, High palate, Premature loss of teeth, Dislocate... |
OMIM:102500 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Sacral dimple, Anteverted nar... |
ORPHA:261323 |
| Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, High, narrow palate, Short philtrum, Finger syndactyly, Anteverted na... |
ORPHA:464738 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormal intervertebral disk morphology, Micromelia, Prominent nose, Long nose, Micrognathia, Sho... |
ORPHA:2636 |
| Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Short neck, High, narrow palate, Vertebral segmentation defect, Clino... |
ORPHA:373 |
| Xylt1-Cdg |
|
Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Thick vermilion border, Short femor... |
ORPHA:370930 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Thin upper lip vermilion, Brachydactyly, Prominent nasal bridge, Micrognathia, Diastema, Pectus e... |
OMIM:300534 |
| Viss Syndrome |
|
Chronic gastritis, Micrognathia, High, narrow palate, High palate, Gastroesophageal reflux, Broad... |
OMIM:619472 |
| Lowry-Maclean Syndrome |
|
Choanal atresia, Delayed eruption of primary teeth, Micrognathia, High, narrow palate, Pyloric st... |
ORPHA:2409 |
| Niemann-Pick Disease, Type A |
|
Feeding difficulties in infancy, Constipation, Vomiting, Protuberant abdomen |
OMIM:257200 |
| Arboleda-Tham Syndrome |
|
Downturned corners of mouth, Short philtrum, Gastroesophageal reflux, Genu varum, Microretrognath... |
OMIM:616268 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, Short neck, Feeding difficulties in infancy, High palate, Gastroesoph... |
ORPHA:280633 |
| Trisomy 8P |
|
Short fourth metatarsal, Short neck, Clinodactyly of the 5th finger, Bifid uvula, Depressed nasal... |
ORPHA:264450 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Prominent nasal bridge, Broad nasal tip, Micrognathia, Wide nasal bridge, Feeding difficulties, H... |
OMIM:300749 |
| Microvillus Inclusion Disease |
|
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea |
ORPHA:2290 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Clinodactyly, Syndactyly, Short nose |
OMIM:618087 |
| Infantile Systemic Hyalinosis |
|
Abnormal dental morphology, Camptodactyly of finger, Micromelia, Malabsorption, Short neck, Chron... |
ORPHA:2176 |
| Mucopolysaccharidosis Type 3 |
|
Abnormality of the dentition, Adenoiditis, Malabsorption, Avascular necrosis of the capital femor... |
ORPHA:581 |
| Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Pectus excavatum, Short nose, Depressed nasal bridge |
ORPHA:2835 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Oligodontia, Aplasia of the distal phalanx of the 5th f... |
OMIM:608670 |
| Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Death in infancy, Underdeveloped nasal alae, Abnormality of the dentit... |
ORPHA:2315 |
| Van Esch-O'Driscoll Syndrome |
|
Sacral dimple, Depressed nasal bridge, Esophageal atresia, Tracheoesophageal fistula, Feeding dif... |
OMIM:301030 |
| Tarp Syndrome |
|
Finger syndactyly, Anteverted nares, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pec... |
ORPHA:2886 |
| Warburg Micro Syndrome 3 |
|
Kyphoscoliosis, Micrognathia, Narrow palate, Downturned corners of mouth, Clinodactyly of the 5th... |
OMIM:614222 |
| Plummer-Vinson Syndrome |
|
Tongue atrophy, Poor appetite, Abdominal pain, Intra-oral hyperpigmentation, Cheilitis, Dysphagia... |
ORPHA:54028 |
| Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
| Acute Intermittent Porphyria |
|
Nausea and vomiting, Back pain, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulb... |
ORPHA:79276 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Feeding difficulties in infancy, Short neck, Abnormal ... |
ORPHA:818 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Arachnodactyly, Hyperlordosis, U... |
ORPHA:261330 |
| Ovarian Fibrothecoma |
|
Abdominal distention, Abdominal pain |
ORPHA:314478 |
| Cerebrooculonasal Syndrome |
|
U-Shaped upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proboscis, Postaxial poly... |
OMIM:605627 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy |
ORPHA:216873 |
| Cornelia De Lange Syndrome 1 |
|
Proximal placement of thumb, Micromelia, Micrognathia, High, narrow palate, Short neck, Downturne... |
OMIM:122470 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Delayed eruption of teeth, Congenital hip dislocation, Depressed nasal bridge, Kyphoscoliosis, Mi... |
OMIM:268400 |
| Chops Syndrome |
|
Anteverted nares, Gastroparesis, High, narrow palate, Downturned corners of mouth, Gastroesophage... |
OMIM:616368 |
| Cdags Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Rectourethral fistula, Brachycepha... |
OMIM:603116 |
| Necrotizing Enterocolitis |
|
Abdominal distention, Diarrhea, Vomiting, Bloody diarrhea |
ORPHA:391673 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Depressed nasal bridge, Micrognathia, Dysphagia, Volvulus, Short nose |
OMIM:617802 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Micromelia, Ulnar bowing, Aplasia/Hypoplasia of the radius, Microdontia |
ORPHA:1765 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Micrognathia, Oligodontia, High palate, Short philtrum, Depressed nasal bridge, Tapered finger, S... |
OMIM:309590 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Xerostomia, Macroglossia, Dysph... |
ORPHA:85443 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Abdominal distention, Hypoperistalsis |
OMIM:619365 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Depressed nasal bridge, Anteverted nares, Feeding difficulties, Macroglossia, Concave nasal ridge... |
OMIM:613038 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Death in infancy, Diarrhea, Esophageal varix, Vomiting, Protuberant abdome... |
OMIM:278000 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Micrognathia, Feeding difficulties in infanc... |
OMIM:257300 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Microm... |
ORPHA:1675 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death, Abdominal distention, Microcolon |
OMIM:619362 |
| Kleefstra Syndrome |
|
Delayed eruption of teeth, Tented upper lip vermilion, Anteverted nares, Exaggerated cupid's bow,... |
ORPHA:261494 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nare... |
OMIM:269150 |
| Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Sacral dimple, Anteverted nares, Micrognathi... |
OMIM:247200 |
| Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Br... |
ORPHA:1465 |
| Mycetoma |
|
Back pain, Abnormal forearm bone morphology, Abnormal form of the vertebral bodies, Abnormal appe... |
ORPHA:2583 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Death in infancy, Intestinal malrotation, Hypoperistalsis, Abdominal distent... |
ORPHA:2241 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Congenital hip dislocation, Anteverted nares, Broad nasal tip, Carious teeth, Feeding difficultie... |
ORPHA:357074 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Thin upper lip vermilion, Thick lower lip vermilion, Cranial asymmetry, Long philtrum |
ORPHA:137634 |
| Osteogenesis Imperfecta |
|
Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Cervical kyphosis, Abn... |
ORPHA:666 |
| Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Syndactyly, Hamartoma of tongue, Cleft upper lip, Supernumerary to... |
OMIM:311200 |
| Jaberi-Elahi Syndrome |
|
Depressed nasal bridge, Kyphosis, Triangular mouth, Talipes equinovarus, Scoliosis, Hand clenchin... |
OMIM:617988 |
| Micro Syndrome |
|
Anteverted nares, Micrognathia, Kyphosis, Wide nasal bridge, High palate, Short philtrum, Scolios... |
ORPHA:2510 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epiphyseal stippling, Short nose, Epistaxis, Short distal phalanx of finger |
OMIM:277450 |
| Lathosterolosis |
|
Toe syndactyly, Anteverted nares, Micrognathia, Lumbosacral meningocele, Postaxial hand polydacty... |
OMIM:607330 |
| Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Short neck, Hypoplastic iliac wing, Short phalanx of finger, Syndactyly, Short meta... |
OMIM:263650 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narrow palate, Gastrointest... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narrow palate, Gastrointest... |
ORPHA:352665 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:611936 |
| Mucolipidosis Type Ii |
|
Hip contracture, Depressed nasal bridge, Kyphosis, Hip dislocation, Gingival overgrowth, Abnormal... |
ORPHA:576 |
| Mandibuloacral Dysplasia |
|
Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, High palate, Shor... |
ORPHA:2457 |
| Sepsis In Premature Infants |
|
Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, Functional abnormali... |
ORPHA:90051 |
| Alternating Hemiplegia Of Childhood |
|
Exaggerated cupid's bow, Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Gastrointesti... |
ORPHA:2131 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Micromelia, Trapezoidal vertebral body, Short phalanx of finger, Brachydactyly |
OMIM:600092 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Underdeveloped nasal alae, Nasogastric tube feeding in infancy, Gastrointestinal dysmotility, Wid... |
ORPHA:453499 |
| Ogden Syndrome |
|
Congenital hip dislocation, Micrognathia, Short neck, Deep philtrum, Short philtrum, High palate,... |
OMIM:300855 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Wide nose, Lumbar hyperlordosis, Dental crowding, Broad hallux, Sandal ... |
OMIM:616078 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short metacarpal, Brachydactyly, Depressed nasal bridge, Anteverted nares, Dental crowding, Broad... |
OMIM:617157 |
| Cardiofaciocutaneous Syndrome |
|
Depressed nasal bridge, Anteverted nares, Abnormal morphology of ulna, Short neck, Feeding diffic... |
ORPHA:1340 |
| Auriculocondylar Syndrome 3 |
|
Glossoptosis, Bifid uvula |
OMIM:615706 |
| Omodysplasia 1 |
|
Short humerus, Depressed nasal bridge, Increased fibular diameter, Rhizomelia, Micrognathia, Shor... |
OMIM:258315 |
| Ring Chromosome 7 Syndrome |
|
Anteverted nares, Prominent nasal bridge, Prominent crus of helix, Slender finger, Small hand, Wi... |
ORPHA:1449 |
| Hereditary Fructose Intolerance |
|
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... |
ORPHA:469 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Limb undergrowth, Gastrostomy tube feeding in infancy, Gastroesophageal reflux, Feeding difficulties |
ORPHA:79243 |
| Gaucher Disease, Perinatal Lethal |
|
Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Dysphagia, E... |
OMIM:608013 |
| Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Split hand, Short long bo... |
OMIM:252600 |
| Agnathia-Otocephaly Complex |
|
Polyhydramnios, Aglossia, Cleft palate, Narrow mouth, Microglossia |
OMIM:202650 |
| Zttk Syndrome |
|
Depressed nasal bridge, Abnormality of the dentition, Feeding difficulties in infancy, Kyphosis, ... |
OMIM:617140 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Tongue atrophy |
OMIM:158900 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Sandal gap, Micromelia, Short neck, Thin vermilion border, Long philtru... |
OMIM:614800 |
| Osteogenesis Imperfecta, Type Xx |
|
Tented upper lip vermilion, Brachycephaly, Narrow palate, Agenesis of permanent teeth, Plagioceph... |
OMIM:618644 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Lumbar hyperlordosis, Equinus calcaneus, 2-3 toe syndactyly, Feeding di... |
ORPHA:522077 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large intestine morphology, Micrognat... |
ORPHA:109 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Frontal bossing, Abnormal dental morphology, Abnormal dental enamel morphology, Tarsal synostosis... |
ORPHA:85199 |
| Frontorhiny |
|
Lumbar hyperlordosis, Camptodactyly of finger, Hypoplastic frontal sinuses, Cleft palate, Finger ... |
ORPHA:391474 |
| Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Wide nasal bridge, Cleft palate... |
OMIM:616367 |
| Ayme-Gripp Syndrome |
|
Thin upper lip vermilion, Brachydactyly, Depressed nasal bridge, Abnormality of the dentition, Ta... |
OMIM:601088 |
| Arterial Tortuosity Syndrome |
|
Arachnodactyly, Rocker bottom foot, Hiatus hernia, Coxa valga, Pyloric stenosis, Avascular necros... |
ORPHA:3342 |
| Monosomy 9P |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Abnormality of the dentition, Proximal... |
ORPHA:261112 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... |
OMIM:611561 |
| Letterer-Siwe Disease |
|
Stomatitis, Abdominal distention |
OMIM:246400 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Depressed nasal bridge, Rhizomelia, Micrognathia, Bulbous nose, Clinodactyly, Narrow mouth, Clino... |
OMIM:614114 |
| Toriello-Carey Syndrome |
|
Aganglionic megacolon, Micrognathia, Feeding difficulties in infancy, Short neck, Clinodactyly, W... |
ORPHA:3338 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, ... |
OMIM:615503 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Microretrognathia, Hip contracture, Overlapping toe, Rocker bottom foot, Kyphoscoliosis, Tapered ... |
ORPHA:488642 |
| Cornelia De Lange Syndrome |
|
Proximal placement of thumb, Micromelia, Micrognathia, Feeding difficulties in infancy, Short nec... |
ORPHA:199 |
| Hypoglossia-Hypodactylia |
|
Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia |
OMIM:103300 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Gastrostomy tube feeding in infancy, Sm... |
ORPHA:444077 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Bifid nasal tip, Pectus excavatum, Bilateral cleft lip and palate, High... |
OMIM:618874 |
| Mosaic Trisomy 9 |
|
Intestinal malrotation, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Micromelia, Bu... |
ORPHA:99776 |
| Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Intestinal malrotation, Broad nasal tip, Wide anterior fontanel, Short st... |
OMIM:222448 |
| Crouzon Syndrome |
|
Frontal bossing, Dental crowding, Sagittal craniosynostosis, Brachycephaly, High palate, Lambdoid... |
OMIM:123500 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Abdominal distention, Chronic diarrhea, Vomiting, Gastroesophageal reflux |
OMIM:620233 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus |
ORPHA:401777 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Nausea |
ORPHA:100085 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Nasogastric tube feeding in infancy, Short philtrum, Joint contracture of the 5th finger, Gastroe... |
ORPHA:363611 |
| Schinzel-Giedion Syndrome |
|
Micrognathia, Short neck, Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, Choa... |
ORPHA:798 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal pelvis bone morphology, Aganglionic megacolon, Abnormal dental enamel morphology, Choana... |
ORPHA:2273 |
| Hyperparathyroidism, Transient Neonatal |
|
Short femur, Depressed nasal bridge, Anteverted nares, Metaphyseal spurs, Wide nasal bridge, Femo... |
OMIM:618188 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Prominent nasal bridge, Broad nasal tip, Long nose, Clinodactyly, Limb undergrowth, Tooth malposi... |
OMIM:616541 |
| Congenital Varicella Syndrome |
|
Micromelia |
ORPHA:291 |
| Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Diarrh... |
ORPHA:275761 |
| Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, Feeding difficulties in infancy, High, narrow palate, Clinodactyly, ... |
OMIM:613406 |
| Ovarian Hyperstimulation Syndrome |
|
Nausea and vomiting, Abdominal distention, Nausea, Abdominal pain |
ORPHA:64739 |
| 1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Bulbous nose, Wide nasal bridge, Short foot, Hand polydacty... |
ORPHA:250989 |
| Faciocardiorenal Syndrome |
|
Cleft palate, Plagiocephaly, Hypodontia, Narrow mouth, Smooth philtrum |
ORPHA:1973 |
| Mirizzi Syndrome |
|
Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Vomiting, Nausea |
ORPHA:521219 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, Exaggerated median tongu... |
OMIM:312870 |
| Adenylosuccinase Deficiency |
|
Thin upper lip vermilion, Anteverted nares, Wide mouth, Long philtrum, Short nose, Smooth philtrum |
OMIM:103050 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Depressed nasal bridge, Hamartoma of tongue, Accessory oral frenulum, Aplastic clavicle, Postaxia... |
OMIM:616546 |
| Ulbright-Hodes Syndrome |
|
Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Short metacarpa... |
ORPHA:3404 |
| Cirrhosis, Familial |
|
Abdominal distention, Fulminant hepatitis, Esophageal varix |
OMIM:215600 |
| Prolidase Deficiency |
|
Depressed nasal bridge, Micrognathia, Concave nasal ridge, High palate, Short nose |
OMIM:170100 |
| Costello Syndrome |
|
Keratoconus, Woolly hair, Abnormal hair morphology |
ORPHA:3071 |
| Lelis Syndrome |
|
Hypodontia, Carious teeth, Midface retrusion, Furrowed tongue |
ORPHA:140936 |
| Trisomy 18 |
|
Microretrognathia, Choanal atresia, Camptodactyly of finger, Esophageal atresia, Non-midline clef... |
ORPHA:3380 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, High pala... |
ORPHA:3103 |
| Gracile Bone Dysplasia |
|
Death in infancy, Flared metaphysis, Slender long bone, Ankyloglossia, Brachydactyly |
OMIM:602361 |
| Hemimegalencephaly |
|
Cranial asymmetry |
ORPHA:99802 |
| Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Wide nose, Toe syndactyly, Rocker bottom foot, Micromelia, Cleft upper lip, Sw... |
OMIM:256520 |
| Holoprosencephaly 7 |
|
Omphalocele, Frontal bossing, Bilateral cleft palate, Flat occiput, Median cleft lip, Bilateral c... |
OMIM:610828 |
| Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Kyphoscoliosis, Hyperlordosis, Abdominal distention, Abnormal tongue morph... |
ORPHA:653 |
| Craniosynostosis And Dental Anomalies |
|
Flat occiput, Dental crowding, Brachycephaly, Coronal craniosynostosis, High palate, Short phalan... |
OMIM:614188 |
| Aspartylglucosaminuria |
|
Beaking of vertebral bodies, Abnormal morphology of ulna, Abnormality of the dentition, Carious t... |
ORPHA:93 |
| Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Coronal craniosynostosis, Aglossia |
OMIM:241310 |
| 8Q24.3 Microdeletion Syndrome |
|
Thoracic scoliosis, Congenital hip dislocation, Micromelia, Short neck, Feeding difficulties in i... |
ORPHA:508488 |
| Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Chronic diarrhea, Glossitis, Poor appetite |
ORPHA:2221 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Depressed nasal bridge, Anteverted nares, Arachnodactyly, Abnormal thumb morphology, Narrow mouth... |
ORPHA:2719 |
| Idiopathic Hypereosinophilic Syndrome |
|
Swelling of proximal interphalangeal joints, Malabsorption, Feeding difficulties in infancy, Abdo... |
ORPHA:3260 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Nasogastric tube feeding in infancy, Widely spaced teeth, Gastroesophageal reflux, Cleft soft pal... |
ORPHA:268261 |
| Cerebrocostomandibular Syndrome |
|
11 pairs of ribs, Short humerus, Anal stenosis, Congenital hip dislocation, Calcaneal epiphyseal ... |
OMIM:117650 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Nausea and vomiting, Oral mucosal blisters, Abdominal distention, Congenital pyloric atresia, Ena... |
ORPHA:79403 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Cleft soft palate, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2736 |
| Stüve-Wiedemann Syndrome |
|
Bowing of the long bones, Sacral dimple, Camptodactyly of finger, Micromelia, Abnormality of the ... |
ORPHA:3206 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Hi... |
ORPHA:3472 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Micromelia, Short neck, Postaxial hand polydactyly, Hypoplasia of the small in... |
OMIM:200995 |
| Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Micromelia, Abnormality of the dentit... |
ORPHA:289 |
| Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Depressed nasal brid... |
ORPHA:2729 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus |
ORPHA:542306 |
| Gapo Syndrome |
|
Keratoconus, Alopecia, Sparse eyelashes, Sparse eyebrow, Shallow anterior chamber, Hypoplastic ni... |
OMIM:230740 |
| Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Prominent nasal bridge, Pectus excavatum, Short toe, Wide nasal bridge, Orofac... |
ORPHA:1519 |
| Tetraamelia Syndrome 2 |
|
Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate |
OMIM:618021 |
| Khan-Khan-Katsanis Syndrome |
|
Sacral dimple, Tented upper lip vermilion, Postaxial polydactyly, Micrognathia, Triangular mouth,... |
OMIM:618460 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Hypoplastic scapulae, Camptodactyly of finger, Prominent nose, Long fingers, Thick... |
OMIM:256040 |
| Gapo Syndrome |
|
Keratoconus, Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding |
ORPHA:2067 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue atrophy, Tongue fasciculations, Scoliosis, Hyperlordosis |
OMIM:620285 |
| Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Kyphosis, Hip dislocation, Genu valgum, Finger swelling, Platyspondyly, ... |
OMIM:309000 |
| Bazex-Dupre-Christol Syndrome |
|
Furrowed tongue, Underdeveloped nasal alae, Narrow nasal ridge, Low hanging columella |
OMIM:301845 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose |
ORPHA:289266 |
| Jacobsen Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Missing ribs, Pyloric stenosis, Short nec... |
OMIM:147791 |
| Choreoacanthocytosis |
|
Dysphagia, Protruding tongue |
ORPHA:2388 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Scoliosis, Short nose, Micrognathia |
OMIM:615851 |
| White-Kernohan Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, U... |
OMIM:619426 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Autoamputation of digits, Reye syndrome-like episodes, Abdominal distentio... |
OMIM:256810 |
| Desmosterolosis |
|
Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Micrognathia, Alveolar ridge overgrowth, ... |
OMIM:602398 |
| Thyroid Ectopia |
|
Macroglossia, Constipation, Abdominal distention |
ORPHA:95712 |
| Treacher-Collins Syndrome |
|
Encephalocele, Frontal bossing, Branchial fistula, Abnormal dental morphology, Abnormal dental en... |
ORPHA:861 |
| X-Linked Acrogigantism |
|
Diastema, Abdominal distention, Large hands |
ORPHA:300373 |
| Nail-Patella Syndrome |
|
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign |
OMIM:161200 |
| Warburg Micro Syndrome 2 |
|
Overlapping toe, Prominent nasal bridge, Short nose, Clinodactyly of the 4th toe, Clinodactyly of... |
OMIM:614225 |
| Peters Plus Syndrome |
|
Micromelia, Micrognathia, Feeding difficulties in infancy, Short neck, Widely spaced teeth, Clino... |
ORPHA:709 |
| Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Rocker bottom foot, Tapered finger, Cleft palat... |
ORPHA:1272 |
| Pancreatoblastoma |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:677 |
| Toriello-Lacassie-Droste Syndrome |
|
Aganglionic megacolon, Anteverted nares, Feeding difficulties, Short palm, Short nose, Brachydactyly |
ORPHA:3339 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Cleft soft palate, Micrognathia, Short neck, Wide nasal bridge, Feeding difficu... |
ORPHA:2282 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Lumbar hyperlordosis, Anteverted nares, Choanal atresia, Micrognathia, Cleft lip, Bul... |
OMIM:616975 |
| Ramos-Arroyo Syndrome |
|
Anteverted nares, Depressed nasal bridge, Aganglionic megacolon, Carious teeth, Feeding difficult... |
ORPHA:1051 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Feeding difficulties in infancy, Abdominal distention |
ORPHA:309256 |
| Branchioskeletogenital Syndrome |
|
Amelia involving the lower limbs, Unilateral cleft palate, Craniosynostosis, Abnormality of the d... |
ORPHA:1299 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Thin upper lip vermilion, Short nose, Anteverted nares, Narrow mouth |
OMIM:613735 |
| Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Pectus excavatum, Kyphosis, Furrowed tongue, Hamartomatous pol... |
OMIM:615108 |
| Poikiloderma With Neutropenia |
|
Depressed nasal bridge, Underdeveloped nasal alae, Carious teeth, Micrognathia, Recurrent sinusit... |
OMIM:604173 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Syndactyly, Choanal atresia, Abnormality of the dentitio... |
OMIM:151050 |
| Cranioectodermal Dysplasia 2 |
|
Micrognathia, Short neck, Fused teeth, High palate, Widely spaced teeth, Microdontia, Syndactyly,... |
OMIM:613610 |
| Fanconi-Bickel Syndrome |
|
Abdominal distention, Poor appetite, Malabsorption |
OMIM:227810 |
| Alagille Syndrome |
|
Keratoconus, Abnormal pupil morphology, Corneal dystrophy |
ORPHA:52 |
| Gallbladder Neuroendocrine Tumor |
|
Abdominal distention, Nausea, Anorexia, Episodic abdominal pain |
ORPHA:100086 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Choanal atresia, Underdeveloped nasal alae, Abnormality of the dentition, High, narr... |
ORPHA:2108 |
| Wilson Disease |
|
Acute hepatic failure, Abdominal distention, Esophageal varix, Vomiting, Dysphagia, Hyposmia, Hep... |
OMIM:277900 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Microretrognathia, Thin upper lip vermilion, Arachnodactyly, Intestinal malrotation, Hiatus herni... |
OMIM:601776 |
| Castleman Disease |
|
Nausea and vomiting, Abdominal distention, Intestinal obstruction, Abdominal pain |
ORPHA:160 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose, Micrognathia |
OMIM:256600 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Underdevelo... |
OMIM:305100 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Secretory diarrhea |
OMIM:214700 |
| Macrocephaly/Autism Syndrome |
|
High palate, Short nose, Depressed nasal bridge, Long philtrum |
OMIM:605309 |
| Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Pectus excavatum, Pyloric stenosis, Abdominal d... |
OMIM:235730 |
| Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Pectus excavatum, Kyphosis, Furrowed tongue, Hamartomatous pol... |
OMIM:615109 |
| Warburg-Cinotti Syndrome |
|
Corneal neovascularization, Limbal stem cell deficiency, Symblepharon, Decreased corneal thickness |
OMIM:618175 |
| Cerebrocostomandibular Syndrome |
|
Death in infancy, Micrognathia, Kyphosis, Cleft palate, Feeding difficulties, Glossoptosis, Clino... |
ORPHA:1393 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Broad toe, Anteverted nares, Broad nasal tip, Long nose, Carious teeth, Bulbous nose, Tapered fin... |
OMIM:619522 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Colitis, Steatorrhea |
ORPHA:309031 |
| Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Broad hallux, Deviation of the hallux, Accessory oral frenulum, Hamartoma of t... |
ORPHA:434179 |
| Constricting Bands, Congenital |
|
Omphalocele, Encephalocele, Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Gastrosc... |
OMIM:217100 |
| Achard Syndrome |
|
Broad skull, Arachnodactyly, Brachycephaly |
OMIM:100700 |
| Primary Biliary Cholangitis |
|
Celiac disease, Abdominal distention, Hepatic failure, Gastrointestinal inflammation |
ORPHA:186 |
| Hereditary Spherocytosis |
|
Abdominal distention, Abdominal pain |
ORPHA:822 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
| Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Intestinal obstruction, Malabsorption, Chronic diarrhea, Triangular mouth, Shor... |
OMIM:601675 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Abdominal distention, Vomiting, Congenital pyloric atresia, Oral mucosal blisters |
ORPHA:158684 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, High, narrow palate, Abnormal curvature of the vertebral column, Short philtrum, High ... |
OMIM:619475 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Feeding difficulties, Thick vermilion border, Long philtrum, Neonatal death, Short nose |
OMIM:252160 |
| Gaucher Disease, Type Ii |
|
Death in infancy, Feeding difficulties, Gastroesophageal reflux, Protuberant abdomen, Dysphagia |
OMIM:230900 |
| Lacrimoauriculodentodigital Syndrome |
|
Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Limbal stem cell d... |
ORPHA:2363 |
| Gaucher Disease, Type I |
|
Vertebral compression fracture, Epistaxis, Erlenmeyer flask deformity of the femurs |
OMIM:230800 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Abdominal distention |
ORPHA:309263 |
| Hereditary Mucoepithelial Dysplasia |
|
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue atrophy, Kyphosis, Dysphagia, Tongue fasciculations, Scoliosis, Death in childhood |
OMIM:211530 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Micromelia |
ORPHA:2772 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Narrow nasal tip, Prominent nasal bridge, Arachnodactyly, Pectus e... |
ORPHA:464306 |
| Arthrogryposis, Distal, Type 4 |
|
2-5 finger cutaneous syndactyly, Cranial asymmetry, Camptodactyly of 2nd-5th fingers, Talipes equ... |
OMIM:609128 |
| Metachromatic Leukodystrophy, Adult Form |
|
Abdominal distention, Bowel incontinence |
ORPHA:309271 |
| Cole-Carpenter Syndrome 1 |
|
Micrognathia, Scoliosis, Microdontia, Vertebral compression fracture, Dentinogenesis imperfecta |
OMIM:112240 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Feeding difficulties in infancy, Gastrointestinal dysmotility, Hemivertebrae, Downturned corners ... |
ORPHA:500150 |
| Pallister-Hall Syndrome |
|
Depressed nasal ridge, Hemivertebrae, Bifid uvula, Microretrognathia, Mesoaxial polydactyly, Radi... |
ORPHA:672 |
| Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Vertebral clefting, Neonatal death, Abnormal vertebral morphology, Anal at... |
OMIM:615709 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Feeding difficulties in infancy, Macroglossia, Constipation, Abdominal distention |
OMIM:218700 |
| Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Ulnar deviation of the hand, Depressed nasal bridge, Narrow naris |
OMIM:122880 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Postaxial polydactyly, Supernu... |
OMIM:617088 |
| Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital hip dislocation, Micrognathia, Short neck, Anteriorly plac... |
OMIM:601803 |
| Chand Syndrome |
|
Short fifth metatarsal, Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Abnorm... |
ORPHA:1401 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Abdominal distention, Hepatic failure, Death in infancy |
OMIM:617156 |
| Williams Syndrome |
|
Micrognathia, Rectal prolapse, Abnormal form of the vertebral bodies, Vertebral segmentation defe... |
ORPHA:904 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Lumbar kyphosis, Macroglossia, Thick vermi... |
ORPHA:505248 |
| Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Hip contracture, Vertebral compression fracture, Cervical spinal canal stenosis |
OMIM:620232 |
| Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Micromelia, Micrognathia, Submucous cleft hard palate, Depressed nas... |
ORPHA:2671 |
| Hereditary Folate Malabsorption |
|
Nausea and vomiting, Anorexia, Diarrhea, Cheilitis, Gastroesophageal reflux, Glossitis |
ORPHA:90045 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Bloody diarrhea, Rectal abs... |
ORPHA:436252 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Neuropathic spinal arthropathy, Tongue atrophy, Hip dysplasia, Hammertoe, Tongue fasciculations, ... |
ORPHA:99949 |
| Acrodermatitis Enteropathica |
|
Anorexia, Malabsorption, Poor appetite, Chronic diarrhea, Cheilitis, Abnormality of the tongue, F... |
ORPHA:37 |
| Baller-Gerold Syndrome |
|
Brachycephaly, Patellar hypoplasia, Anteriorly placed anus, High palate, Spina bifida occulta, Bi... |
OMIM:218600 |
| Rabson-Mendenhall Syndrome |
|
Wide nose, Anteverted nares, Prominent nasal bridge, Dental crowding, Abnormality of the dentitio... |
ORPHA:769 |
| Fraser Syndrome |
|
Finger syndactyly, Anal stenosis, Cleft ala nasi, Depressed nasal bridge, Dental crowding, Toe sy... |
ORPHA:2052 |
| Leprechaunism |
|
Wide nose, Abdominal distention, Rectal prolapse, Megarectum, Large hands, Thick vermilion border |
ORPHA:508 |
| Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
| Cowden Syndrome 1 |
|
Colonic diverticula, Micrognathia, Pectus excavatum, Kyphosis, Furrowed tongue, Hamartomatous pol... |
OMIM:158350 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Epistaxis, Carious teeth, Diarrhea, Oral ulcer, Gingivitis, Enterocolitis, Ulcerative colitis, In... |
ORPHA:79259 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Dental crowding, Internally rotated shoulders, Prominent... |
OMIM:619503 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Short nose, Anteverted nares, Hypoplasia of teeth |
OMIM:234050 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Depressed nasal bridge, Wide mouth, High palate, Death in childhood, Short nose, Convex nasal ridge |
OMIM:300661 |
| Distal Deletion 15Q |
|
Thin upper lip vermilion, Abnormality of the dentition, Broad nasal tip, Micrognathia, 2-3 toe cu... |
ORPHA:1596 |
| Renal And Mullerian Duct Hypoplasia |
|
Short nose, Micrognathia |
OMIM:266810 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Intrauterine growth retardation, Glossitis, Cleft palate |
ORPHA:79284 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Depressed nasal bridge, Narrow nasal ridge, Micrognathia, Abdominal distention... |
OMIM:619991 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Thin upper lip vermilion, Toe clinodactyly, Sandal gap, Broad nasal tip, Short neck, Long fingers... |
OMIM:620330 |
| Shwachman-Diamond Syndrome |
|
Delayed eruption of teeth, Carious teeth, Metaphyseal chondrodysplasia, Metaphyseal widening, Mal... |
ORPHA:811 |
| Arterial Tortuosity Syndrome |
|
Keratoconus, Astigmatism |
OMIM:208050 |
| Cadds |
|
Short nose, Micrognathia |
ORPHA:369942 |
| Spinocerebellar Ataxia Type 36 |
|
Tongue atrophy, Tongue fasciculations, Bowel incontinence, Dysphagia |
ORPHA:276198 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Syndactyly, Depressed nasal bridge, Anteverted nares, Postaxial polydactyly, Abdominal distention... |
OMIM:619534 |
| Spinocerebellar Ataxia 36 |
|
Tongue atrophy, Tongue fasciculations |
OMIM:614153 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Abdominal distention, Microcolon, Ileal atresia |
OMIM:619351 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Lobulated tongue, Syndactyly, Cleft upper lip, Postaxial foot polydactyl... |
OMIM:249000 |
| Hartnup Disease |
|
Glossitis, Gingivitis, Malabsorption |
ORPHA:2116 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anorexia, Oral mucosal blisters, Intestinal perforation, Oral-pharyngeal dysphagia, Diarrhea, Abd... |
ORPHA:95455 |
| Psoriasis 14, Pustular |
|
Geographic tongue, Furrowed tongue |
OMIM:614204 |
| Gaucher Disease Type 1 |
|
Anorexia, Abdominal pain, Kyphosis, Gingival bleeding, Vertebral compression fracture |
ORPHA:77259 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Tracheoesophageal fistula, High palate, Talipes equinovarus, Stomatitis... |
OMIM:277380 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Aplasia of the nasal bone, Jejunal atresia, Ileal atresia, Micrognathia, Kyphoscolios... |
OMIM:618820 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Cleft soft palate, Intestinal malrotation, Genu valgum, Downturned corners of mouth, Short nose, ... |
OMIM:619321 |
| Williams-Beuren Syndrome |
|
Feeding difficulties in infancy, Rectal prolapse, Gastroesophageal reflux, Clinodactyly of the 5t... |
OMIM:194050 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Feeding difficulties in infancy, Short nose, Thick vermilion border, Long philtrum |
OMIM:252150 |
| X-Linked Agammaglobulinemia |
|
Glossoptosis, Chronic diarrhea, Malabsorption |
ORPHA:47 |
| Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Oral ulcer, Protuberant abdomen |
OMIM:232220 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormal toe morphology, Abnormal finger morphology, Abnormality of dental color, Cranial asymmetry |
OMIM:163200 |
| Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose, Midline defect of the no... |
OMIM:229400 |
| Kasabach-Merritt Syndrome |
|
Abdominal distention, Abdominal pain |
ORPHA:2330 |
| Orofaciodigital Syndrome Xiv |
|
Natal tooth, Occipital encephalocele, Broad hallux, Hamartoma of tongue, Cleft lip, Supernumerary... |
OMIM:615948 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Tongue atrophy, Flexion contracture of finger, Scoliosis |
ORPHA:101085 |
| Agel Amyloidosis |
|
Tongue atrophy, Xerostomia, Blepharochalasis, Edema |
ORPHA:85448 |
| Generalized Pustular Psoriasis |
|
Geographic tongue, Cheilitis, Pedal edema |
ORPHA:247353 |
| Giant Cell Arteritis |
|
Epistaxis, Anorexia, Abdominal pain, Recurrent pharyngitis, Gastrointestinal infarctions, Hepatic... |
ORPHA:397 |
| Slc39A8-Cdg |
|
Limb undergrowth, Cutaneous syndactyly of toes, Decreased mitochondrial complex III activity in l... |
ORPHA:468699 |
| Glycogen Storage Disease Ia |
|
Intermittent diarrhea, Protuberant abdomen |
OMIM:232200 |
| Imerslund-Gräsbeck Syndrome |
|
Angular cheilitis, Poor appetite, Constipation, Vomiting, Glossitis |
ORPHA:35858 |
| Noonan Syndrome 3 |
|
Hypoplastic nasal bridge, Anteverted nares, Pectus excavatum, High palate, Short nose |
OMIM:609942 |
| 1P21.3 Microdeletion Syndrome |
|
Wide mouth, Short nose, Micrognathia, Broad nasal tip |
ORPHA:293948 |
| Pmm2-Cdg |
|
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Kyphoscoliosis, Prominent nos... |
ORPHA:79318 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies |
OMIM:219090 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Scaphocephaly, Cranial asymmetry |
OMIM:614886 |
| Glucagonoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97280 |
| Meckel Syndrome |
|
Encephalocele, Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Preaxial hand polydact... |
ORPHA:564 |
| Cowden Syndrome |
|
Pectus excavatum, Kyphosis, Furrowed tongue, Hamartomatous polyposis, Macroglossia, Colorectal po... |
ORPHA:201 |
| Pachyonychia Congenita 3 |
|
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue |
OMIM:615726 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Difficulty in tongue movements, Tongue atrophy, Kyphoscoliosis, Scoliosis |
ORPHA:99956 |
| Odontoonychodermal Dysplasia |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
| Eisenmenger Syndrome |
|
Abdominal distention, Clubbing |
ORPHA:97214 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Microdontia, Oral leukoplakia, Furrowed tongue |
OMIM:148210 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrops fetalis, Dehydration, Stomatitis, Intrauterine growth retardation, Glossitis, Smooth phil... |
ORPHA:79282 |
| Atresia Of Urethra |
|
Abdominal distention |
ORPHA:105 |
| Peroxisome Biogenesis Disorder 4B |
|
Short nose, Decreased liver function |
OMIM:614863 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
| Mucoepithelial Dysplasia, Hereditary |
|
Melena, Erythematous oral mucosa, Chronic diarrhea, Furrowed tongue |
OMIM:158310 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Enamel hypoplasia, Smooth tongue, Craniosynostosis, Oral mucosal blisters |
ORPHA:79396 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Narrow nasal ridge, Narrow mouth, Diarrhea, Feeding difficulties, Vomiting, Dysphagia, Short nose |
OMIM:606721 |
| Microsporidiosis |
|
Anorexia, Abdominal pain, Chronic diarrhea, Rhinitis, Vomiting, Intermittent diarrhea, Glossitis,... |
ORPHA:2552 |
| Kawasaki Disease |
|
Nausea and vomiting, Abdominal pain, Recurrent pharyngitis, Diarrhea, Cheilitis, Glossitis |
ORPHA:2331 |
| Wiedemann-Rautenstrauch Syndrome |
|
Downturned corners of mouth, Short philtrum, Premature loss of teeth, Long toe, Cranial asymmetry... |
ORPHA:3455 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Tongue atrophy, Flexion contracture of finger, Congenital finger flexion contractures |
ORPHA:466768 |
| Multiple Myeloma |
|
Vertebral compression fracture, Functional abnormality of the gastrointestinal tract |
ORPHA:29073 |
| Penile Agenesis |
|
Depressed nasal bridge, Rectal fistula, Tracheoesophageal fistula, Bilateral talipes equinovarus,... |
ORPHA:49 |
| Porphyria, Congenital Erythropoietic |
|
Vertebral compression fracture, Erythrodontia |
OMIM:263700 |
| Plague |
|
Chapped lip, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Enterocolitis, Bloody diarrhea, Inf... |
ORPHA:707 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Keratoconjunctivitis sicca |
ORPHA:285 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Keratoconus, Alopecia of scalp |
OMIM:130050 |
| Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Abnormal pupil m... |
ORPHA:286 |
| Cushing Disease |
|
Intra-oral hyperpigmentation, Vertebral compression fracture |
ORPHA:96253 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Neoplasm of the stomach, Anorexia, Intra-oral hyperpigmentation, Diarrhea, Vertebral compression ... |
ORPHA:99889 |
| Carney Complex |
|
Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Neoplasm of the pharynx, Ab... |
ORPHA:1359 |
