| Mental Retardation, Autosomal Dominant 3 |
|
Seizure |
OMIM:612580 |
| Mental Retardation, Autosomal Dominant 41 |
|
Seizure |
OMIM:616944 |
| Glycosylphosphatidylinositol Biosynthesis Defect 16 |
|
Seizure |
OMIM:617816 |
| Intellectual Developmental Disorder, X-Linked 96 |
|
Seizure |
OMIM:300802 |
| Autism, Susceptibility To, X-Linked 6 |
|
Seizure |
OMIM:300872 |
| Mental Retardation, X-Linked 88 |
|
Seizure |
OMIM:300852 |
| 15q13.3 microdeletion syndrome |
|
Seizure |
DECIPHER:74 |
| Epilepsy, Nocturnal Frontal Lobe, 3 |
|
Seizure |
OMIM:605375 |
| Mental Retardation, Autosomal Recessive 52 |
|
Seizure |
OMIM:616887 |
| Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization |
|
Seizure |
OMIM:618113 |
| Kifafa Seizure Disorder |
|
Seizure |
OMIM:245180 |
| Mental Retardation, Autosomal Dominant 2 |
|
Seizure |
OMIM:614113 |
| Mental Retardation, Autosomal Recessive 10 |
|
Seizure |
OMIM:611096 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Scoliosis, Genu valgum, Hypertelorism, Elbow dislocation, Rhizomelia, Upslanted palpebral fissure... |
ORPHA:166016 |
| Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Right aortic arch, Double outlet right ventricle, Cleft upper lip, Cle... |
OMIM:231060 |
| 17Q21.31 Microduplication Syndrome |
|
Short philtrum, Toe syndactyly, Short nose, Micrognathia, Epicanthus, Abnormality of the dentitio... |
ORPHA:217340 |
| Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... |
OMIM:113100 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Microcephaly, Cerebral hypoplasia, Micrognathia |
OMIM:618266 |
| Orofaciodigital Syndrome I |
|
Enamel hypoplasia, Carious teeth, Underdeveloped nasal alae, Tongue nodules, Polydactyly, Lobulat... |
OMIM:311200 |
| Pierre Robin Syndrome |
|
Pierre-Robin sequence, Cor pulmonale, Glossoptosis, Cleft palate, Micrognathia |
OMIM:261800 |
| Mental Retardation, X-Linked 91 |
|
Cubitus valgus, Short nose, Epicanthus, Clinodactyly, Small hand, Short foot, High palate, Short ... |
OMIM:300577 |
| Tetrasomy X |
|
Hip dysplasia, Hypertelorism, Radioulnar synostosis, Upslanted palpebral fissure, Epicanthus, Abn... |
ORPHA:9 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect |
OMIM:601127 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Short nose, Abnormal vertebral morphology, Micrognathia, Epicanthus, Thin upper lip vermilion, Cl... |
ORPHA:2015 |
| Autosomal Recessive Robinow Syndrome |
|
Open bite, Broad thumb, Downturned corners of mouth, Elbow dislocation, Split hand, Broad hallux ... |
ORPHA:1507 |
| 14Q11.2 Microdeletion Syndrome |
|
Highly arched eyebrow, Long philtrum, Hypertelorism, Short nose, Blepharophimosis, Toe syndactyly... |
ORPHA:261120 |
| Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Long philtrum, Hypertelorism, Thick nasal alae, Wide nasal bridge, Long palpebral fissure, Narrow... |
OMIM:618147 |
| Metaphyseal Acroscyphodysplasia |
|
Scoliosis, Short toe, Abnormality of femur morphology, Hypertelorism, Bowing of the long bones, E... |
ORPHA:1240 |
| Mohr Syndrome |
|
Accessory oral frenulum, Metaphyseal irregularity, Tongue nodules, Lobulated tongue, High palate,... |
OMIM:252100 |
| Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Platyspondyly, Genu valgum, Oligodontia, Metaphyseal irregularity, Narrow iliac wing, Irregular v... |
OMIM:601668 |
| Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Micrognathia, Hand oligodactyly, Cleft palate |
OMIM:172880 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Broad thumb, Short phalanx of finger, Downturned corners of mouth, Hypoplastic right heart, Campt... |
OMIM:616894 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Short nose, Dental crowding, Micrognathia, Upslanted palpebral fissure, Kyphosis, 2-3 toe syndact... |
OMIM:617061 |
| Acromicric Dysplasia |
|
Long philtrum, Abnormal eyebrow morphology, Abnormality of femur morphology, Short nose, Bulbous ... |
ORPHA:969 |
| Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
Enamel hypoplasia, Hypertelorism, Bulbous nose, Mandibular prognathia, Epicanthus, Wide nasal bri... |
OMIM:600991 |
| Membranous Cranial Ossification, Delayed |
|
Downslanted palpebral fissures, Hypertelorism, Depressed nasal bridge |
OMIM:155980 |
| X-Linked Intellectual Disability, Stoll Type |
|
Long philtrum, Hypertelorism, Malar flattening, Hypoplastic nasal bridge, Broad nasal tip, Clinod... |
ORPHA:85326 |
| Acrocephalopolydactyly |
|
Abnormality of the mouth, Hypertelorism, Short nose, Epicanthus, Limb undergrowth, Short long bon... |
ORPHA:221054 |
| Spondylometaphyseal Dysplasia, East African Type |
|
Metaphyseal widening, Ovoid vertebral bodies, Short long bone, Coxa vara, Genu varum, Rounded epi... |
OMIM:611702 |
| Carpenter Syndrome 1 |
|
Lambdoidal craniosynostosis, Flared iliac wing, Hydroureter, Camptodactyly, Patent ductus arterio... |
OMIM:201000 |
| Anauxetic Dysplasia 1 |
|
Platyspondyly, Hypertelorism, Delayed ossification of carpal bones, Hypoplastic ilia, Short finge... |
OMIM:607095 |
| Robinow Syndrome |
|
Dental crowding, Short distal phalanx of finger, Oral cleft, Triangular mouth, Micrognathia, Webb... |
ORPHA:97360 |
| Chromosome 15Q13.3 Deletion Syndrome |
|
Hypertelorism, Synophrys, Abnormality of the palpebral fissures, Clinodactyly of the 5th finger, ... |
OMIM:612001 |
| Maxillonasal Dysplasia, Binder Type |
|
Short nose, Short columella, Short distal phalanx of finger, Depressed nasal bridge, Dental maloc... |
OMIM:155050 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Hypoplastic sacrum, Bifid distal phalanx of toe, Broad thumb, Dental crowding, Triangular mouth, ... |
OMIM:268310 |
| Hall-Riggs Mental Retardation Syndrome |
|
Scoliosis, Platyspondyly, Enamel hypoplasia, Hypertelorism, Thick lower lip vermilion, Hypoplasia... |
OMIM:234250 |
| Orofaciodigital Syndrome Type 5 |
|
Enamel hypoplasia, Postaxial polysyndactyly of foot, Crossed fused renal ectopia, Abnormality of ... |
ORPHA:2919 |
| Trisomy 8Q |
|
Camptodactyly of finger, Deep palmar crease, Myelomeningocele, Low-set, posteriorly rotated ears,... |
ORPHA:1752 |
| Fetal Trimethadione Syndrome |
|
Atrial septal defect, Short nose, Overfolded helix, Ventricular septal defect, High palate, Epica... |
ORPHA:1913 |
| Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Convex nasal ridge, Hypertelorism, Underdeveloped nasal alae, Cleft ala nasi, Non-midline cleft l... |
ORPHA:2007 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Hyperlordosis, Genu valgum, Deformed humeral heads, Short nose, Abnormal form of the vertebral bo... |
ORPHA:2831 |
| Velo-Facial-Skeletal Syndrome |
|
Abnormal thumb morphology, Hypertelorism, High, narrow palate, Epicanthus, Abnormality of the den... |
ORPHA:3424 |
| Dpagt1-Cdg |
|
Microcephaly, Micrognathia |
ORPHA:86309 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Hypertelorism, Short nose, Epicanthus, Pneumonia, High palate, Retrognathia, Anteverted nares, Ch... |
OMIM:614069 |
| Craniofacial-Deafness-Hand Syndrome |
|
Lacrimal duct atresia, Camptodactyly of finger, Hypertelorism, Short nose, Blepharophimosis, Narr... |
ORPHA:1529 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Scoliosis, Hip dysplasia, Thin vermilion border, Short nose, Narrow mouth, Abnormal form of the v... |
ORPHA:2370 |
| Smith-Lemli-Opitz Syndrome |
|
Abnormal dental enamel morphology, Split hand, Choanal atresia, Patent ductus arteriosus, Abnorma... |
ORPHA:818 |
| Familial Intestinal Malrotation |
|
Hypertelorism, Long palpebral fissure, Anteverted nares, Depressed nasal bridge |
ORPHA:508410 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Open bite, Craniosynostosis, Joint laxity, Underdeveloped nasal alae, Lambdoidal craniosynostosis... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Open bite, Craniosynostosis, Joint laxity, Underdeveloped nasal alae, Lambdoidal craniosynostosis... |
ORPHA:352665 |
| Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Epiphyseal stippling, Hypertelorism, Epicanthus, Downslanted palpebral fissures, High palate, Mic... |
OMIM:614882 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Natal tooth, Patent ductus arteriosus, Postaxial polydactyly, Horizontal ribs, Flat acetabular ro... |
OMIM:616300 |
| Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Bifid distal phalanx of toe, Broad thumb, Narrow palate, Downturned corners of mouth, Dental crow... |
OMIM:180700 |
| Autosomal Dominant Robinow Syndrome |
|
Open bite, Oligodontia, Downturned corners of mouth, Elbow dislocation, Euryblepharon, Curly eyel... |
ORPHA:3107 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Tetralogy of Fallot, Micrognathia, Hypoplastic right heart, Ventricular septal defect |
OMIM:601348 |
| Brachydactyly, Type A1 |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Broad metacarpal epiphyses, Short proxima... |
OMIM:112500 |
| Brachydactyly, Type A3 |
|
Rhomboid or triangular shaped 5th finger middle phalanx, Type A brachydactyly, Cone-shaped epiphy... |
OMIM:112700 |
| Clark-Baraitser Syndrome |
|
Long philtrum, Hypertelorism, Short nose, Downturned corners of mouth, Upslanted palpebral fissur... |
OMIM:617752 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Dental crowding, Sandal gap, Spina bifida occulta, Downslanted palpebral fissures, High palate, L... |
OMIM:617877 |
| Distal Monosomy 15Q |
|
Patent ductus arteriosus, Short distal phalanx of finger, Congenital diaphragmatic hernia, Microg... |
ORPHA:1596 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Broad thumb, Dental crowding, Short distal phalanx of finger, Partial duplication of the phalanx ... |
OMIM:616331 |
| Catel-Manzke Syndrome |
|
Highly arched eyebrow, Camptodactyly of finger, Atrial septal defect, Abnormality of epiphysis mo... |
ORPHA:1388 |
| Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Nephronophthisis, Abnormality of long bone morphology, Polydactyly, In... |
ORPHA:1505 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Postaxial polydactyly, Hamartoma of tongue, Horizontal ribs, Short digit,... |
OMIM:613091 |
| Burn-Mckeown Syndrome |
|
Hypertelorism, Short nose, Abnormal palate morphology, Bilateral choanal atresia, Wide nasal brid... |
ORPHA:1200 |
| Orofaciodigital Syndrome Xviii |
|
Genu valgum, Short philtrum, Short middle phalanx of finger, Upslanted palpebral fissure, Preaxia... |
OMIM:617927 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Squared iliac bones, Lumbar platyspondyly, Hypertelorism, Short nose, Beaking of vertebral bodies... |
OMIM:618961 |
| Weiss-Kruszka Syndrome |
|
Overfolded helix, Downslanted palpebral fissures, Exaggerated cupid's bow, Broad philtrum, Dextro... |
OMIM:618619 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Prominence of the premaxilla, Congenital hip dislocation, Narrow mouth, Abnormal tricuspid valve ... |
ORPHA:2412 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... |
ORPHA:3246 |
| Orofaciodigital Syndrome Type 2 |
|
Y-shaped metacarpals, Hypoplasia of teeth, Tongue nodules, Broad first metatarsal, Natal tooth, H... |
ORPHA:2751 |
| 17P13.3 Microduplication Syndrome |
|
Hypertelorism, Short nose, Congenital hip dislocation, Narrow mouth, Clinodactyly of the 5th fing... |
ORPHA:217385 |
| 8P23.1 Microdeletion Syndrome |
|
Thin vermilion border, Broad thumb, Broad hallux phalanx, Patent ductus arteriosus, Pulmonary art... |
ORPHA:251071 |
| Phenobarbital Embryopathy |
|
Aplasia/Hypoplasia of fingers, Hypertelorism, Mandibular prognathia, Epicanthus, Malar flattening... |
ORPHA:1919 |
| Potocki-Shaffer Syndrome |
|
Short philtrum, Short nose, Underdeveloped nasal alae, Downturned corners of mouth, Epicanthus, S... |
OMIM:601224 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... |
OMIM:617912 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Radial club hand, Preaxial hand polydactyly, Short metatarsal, Broad thumb, Abnormal palate morph... |
ORPHA:1278 |
| Bainbridge-Ropers Syndrome |
|
Scoliosis, Highly arched eyebrow, Hypertelorism, Short nose, Dental crowding, Upslanted palpebral... |
OMIM:615485 |
| Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Oligodontia, Hypertelorism, Sparse eyelashes, Thick vermilion border, Wide nasal bridge, Thin eye... |
OMIM:617392 |
| Acromicric Dysplasia |
|
Long philtrum, Short phalanx of finger, Bulbous nose, Narrow mouth, Ovoid vertebral bodies, Deep ... |
OMIM:102370 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies |
|
Hypertelorism, Narrow mouth, Overlapping toe, Micrognathia, Upslanted palpebral fissure, Epicanth... |
OMIM:617755 |
| Maxillonasal Dysplasia |
|
Scoliosis, Open bite, Short nose, Hypoplasia of the maxilla, Short columella, Mandibular prognath... |
ORPHA:1248 |
| Atkin-Flaitz Syndrome |
|
Scoliosis, Genu valgum, Prominent median palatal raphe, Hypertelorism, Broad palm, Kyphosis, Maxi... |
OMIM:300431 |
| Charlie M Syndrome |
|
Short philtrum, Thin vermilion border, Hypertelorism, Narrow mouth, Finger syndactyly, Micrognath... |
ORPHA:1406 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
| White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Hypertelorism, Micrognathia, Synophrys, Wide nasal bridge, Downslanted palpebral fissures, Adduct... |
ORPHA:3207 |
| Marshall-Smith Syndrome |
|
Prominence of the premaxilla, Choanal stenosis, Overfolded helix, Choanal atresia, Patent ductus ... |
OMIM:602535 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Short nose, Bulbous nose, Short phalanx of finger, Upslanted palpebral fissure, Camptodactyly, Ma... |
OMIM:613458 |
| Mmep Syndrome |
|
Ventricular septal defect, Mandibular prognathia, Oral cleft, Microcephaly, Median cleft lip |
ORPHA:3434 |
| Axial Spondylometaphyseal Dysplasia |
|
Platyspondyly, Proximal femoral metaphyseal irregularity, Hypertelorism, Short nose, Rhizomelia, ... |
ORPHA:168549 |
| Whistling Face Syndrome, Recessive Form |
|
Narrow mouth, Underdeveloped nasal alae, Camptodactyly, High palate, Micrognathia, Short neck, El... |
OMIM:277720 |
| Microcephaly 4, Primary, Autosomal Recessive |
|
Thick eyebrow, Micrognathia, Hypertelorism, Synophrys |
OMIM:604321 |
| Cleidorhizomelic Syndrome |
|
Rhizomelia, Bilateral single transverse palmar creases, Short middle phalanx of the 5th finger, C... |
ORPHA:1453 |
| Sugarman Brachydactyly |
|
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... |
OMIM:272150 |
| Velofacioskeletal Syndrome |
|
Hypertelorism, Narrow palate, Broad palm, High, narrow palate, Epicanthus, Wide nasal bridge, Sho... |
OMIM:600736 |
| Familial Digital Arthropathy-Brachydactyly |
|
Osteoarthritis of the small joints of the hand, Short middle phalanx of finger, Shortening of all... |
ORPHA:85169 |
| Brachydactyly, Type A1, C |
|
Short middle phalanx of the 2nd finger, Bilateral talipes equinovarus, Short distal phalanx of fi... |
OMIM:615072 |
| Rafiq Syndrome |
|
Short philtrum, Hypertelorism, Smooth philtrum, Wide nasal bridge, Broad eyebrow, Thin upper lip ... |
OMIM:614202 |
| Hypochondroplasia |
|
Limited elbow extension, Malar flattening, Lumbar hyperlordosis, Short long bone, Flared metaphys... |
OMIM:146000 |
| Non-Distal Trisomy 10Q |
|
Scoliosis, Convex nasal ridge, Hypertelorism, Short nose, Blepharophimosis, Everted lower lip ver... |
ORPHA:1695 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Kyp... |
ORPHA:40 |
| Frontorhiny |
|
Camptodactyly of finger, Midline nasal groove, Aplasia/Hypoplasia of the corpus callosum, Finger ... |
ORPHA:391474 |
| 22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Epicanthus, Smooth philtrum, Urethral stenosi... |
ORPHA:1727 |
| Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia |
OMIM:119540 |
| Metaphyseal Acroscyphodysplasia |
|
Scoliosis, Irregular phalanges, Short phalanx of finger, Cone-shaped epiphyses of the phalanges o... |
OMIM:250215 |
| Acrodysostosis |
|
Open bite, Epiphyseal stippling, Short metatarsal, Open mouth, Mandibular prognathia, Abnormality... |
ORPHA:950 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Highly arched eyebrow, Talon cusp, Short metatarsal, Hypertelorism, Tarsal synostosis, Radioulnar... |
OMIM:605282 |
| Multiple Metaphyseal Dysplasia |
|
Hyperlordosis, Broad distal phalanx of finger, Abnormality of tibia morphology, Abnormality of ep... |
ORPHA:93430 |
| Ring Chromosome 8 Syndrome |
|
Short nose, Abnormal palate morphology, Epicanthus, Anteverted nares, Deviation of finger |
ORPHA:1450 |
| Microphthalmia With Limb Anomalies |
|
Hypoplasia of the premaxilla, Thin vermilion border, Tarsal synostosis, Broad thumb, Elbow disloc... |
ORPHA:1106 |
| Steel Syndrome |
|
Scoliosis, Dislocated radial head, Hypertelorism, Wide nasal bridge |
OMIM:615155 |
| Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate, Retrognathia, Micrognathia, Malar flattening |
OMIM:613857 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Scoliosis, Long philtrum, Hypertelorism, Abnormal thumb morphology, Finger syndactyly, Deep philt... |
ORPHA:1825 |
| Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the corpus callosum, Ventricular septal defect, Aplasia/Hypoplasia of the a... |
ORPHA:1926 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
| Pycnodysostosis |
|
Scoliosis, Osteolytic defects of the distal phalanges of the hand, Carious teeth, Delayed eruptio... |
OMIM:265800 |
| Terminal Osseous Dysplasia |
|
Mesomelic arm shortening, Camptodactyly of finger, Depressed nasal tip, Hypertelorism, Abnormal h... |
OMIM:300244 |
| Digital Arthropathy-Brachydactyly, Familial |
|
Short middle phalanx of finger, Short distal phalanx of toe, Short distal phalanx of finger, Radi... |
OMIM:606835 |
| Pierpont Syndrome |
|
Scoliosis, Thin vermilion border, Unilateral narrow palpebral fissure, Narrow palpebral fissure, ... |
OMIM:602342 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
Long philtrum, Hypertelorism, Short nose, Hypotelorism, Upslanted palpebral fissure, Epicanthus, ... |
OMIM:613544 |
| Frank-Ter Haar Syndrome |
|
Scoliosis, Camptodactyly of finger, Delayed eruption of teeth, Short philtrum, Hypertelorism, Bea... |
ORPHA:137834 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Oligodontia, Tarsal synostosis, Narrow mouth, Partial duplication of the proximal phalanx of the ... |
ORPHA:363417 |
| Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Enamel hypoplasia, Tarsal synostosis, Mandibular prognathia, Hemivertebrae, Hypoplastic vertebral... |
OMIM:263540 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Scoliosis, Metatarsus adductus, Prominent proximal interphalangeal joints, Short femoral neck, Mi... |
OMIM:601560 |
| Otopalatodigital Syndrome Type 1 |
|
Short hallux, Oligodontia, Abnormality of the tarsal bones, Hypertelorism, Synostosis of carpal b... |
ORPHA:90650 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Congenital hip dislocation, Pneumonia, High palate, Short neck, Wide nose, Recurrent upper respir... |
OMIM:300209 |
| Holzgreve Syndrome |
|
Hand polydactyly, Aplasia/Hypoplasia of the corpus callosum, Macrotia, Low-set, posteriorly rotat... |
ORPHA:2167 |
| Hall-Riggs Syndrome |
|
Scoliosis, Platyspondyly, Abnormal dental enamel morphology, Delayed eruption of teeth, Hypertelo... |
ORPHA:2107 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Broad thumb, Micrognathia, Upslanted palpebral fissure, Abnormal aortic morphology, Intestinal ma... |
ORPHA:2001 |
| Clark-Baraitser syndrome |
|
Scoliosis, Genu valgum, Prominent median palatal raphe, Broad palm, Kyphosis, Maxillary lateral i... |
OMIM:300602 |
| Frontonasal Dysplasia 1 |
|
Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Hypertelorism, Hypoplasia of the ... |
OMIM:136760 |
| Syngnathia |
|
Cleft palate |
OMIM:119550 |
| Chime Syndrome |
|
Cerebral cortical atrophy, Transposition of the great arteries, Aplastic clavicle, Abnormality of... |
ORPHA:3474 |
| Periodontal Ehlers-Danlos Syndrome |
|
Agenesis of permanent teeth, Periodontitis, Atrophy of alveolar ridges, Premature loss of primary... |
ORPHA:75392 |
| Pfeiffer Syndrome |
|
Hyperlordosis, Hip dysplasia, Short philtrum, Hypertelorism, Broad thumb, Open mouth, Synostosis ... |
ORPHA:710 |
| Thiemann Disease, Familial Form |
|
Abnormality of the metaphysis, Brachydactyly, Abnormality of epiphysis morphology |
ORPHA:3314 |
| Ververi-Brady Syndrome |
|
Bulbous nose, Metaphyseal irregularity, Macrotia, High palate, Everted lower lip vermilion, Upsla... |
OMIM:617982 |
| Fibromatosis, Gingival, With Distinctive Facies |
|
Hypertelorism, Gingival fibromatosis, Underdeveloped nasal alae, Everted lower lip vermilion, Thi... |
OMIM:228560 |
| Isolated Pierre Robin Syndrome |
|
Micrognathia, Glossoptosis, Cleft palate |
ORPHA:718 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Hypertelorism, Gingival fibromatosis, Underdeveloped nasal alae, Abnor... |
ORPHA:2025 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Highly arched eyebrow, Long philtrum, Smooth philtrum, Synophrys, Hemivertebrae, Wide nasal bridg... |
OMIM:614701 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Narrow mouth, Everted lower lip vermilion, Oral synechia, Cleft palate, Micrognathia |
ORPHA:2016 |
| Orofaciodigital Syndrome Xiv |
|
Natal tooth, Hamartoma of tongue, Postaxial polydactyly, Patent ductus arteriosus, Aplasia of the... |
OMIM:615948 |
| Pseudoachondroplasia |
|
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Flat acetab... |
ORPHA:750 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Scoliosis, Short philtrum, Short nose, Kyphosis, Deeply set eye, Mandibular prognathia, Everted l... |
ORPHA:2429 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Long philtrum, Absent uvula, Hypertelorism, Short nose, Broad thumb, Micrognathia, Camptodactyly,... |
OMIM:618529 |
| Epilepsy, Nocturnal Frontal Lobe, 1 |
|
Seizure, Focal-onset seizure |
OMIM:600513 |
| Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Hip dysplasia, Short philtrum, Horizontal eyebrow, Micrognathia, Deeply set eye, Deep philtrum, L... |
OMIM:618381 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Genu valgum, Short nose, Narrow mouth, Proptosis, Wide nasal bridge, Short foot, Short metacarpal... |
OMIM:614078 |
| Orofaciodigital Syndrome Type 14 |
|
Bulbous nose, Hamartoma of tongue, Patent ductus arteriosus, Aplasia of the epiglottis, Lobulated... |
ORPHA:434179 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Short nose, Bulbous nose, Open mouth, Deeply set eye, Narrow palpebral fissure, Epicanthus, Campt... |
OMIM:613604 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Scoliosis, Hyperlordosis, Large iliac wing, Abnormal thumb morphology, Abnormality of finger, Man... |
ORPHA:2511 |
| Chung-Jansen Syndrome |
|
Long philtrum, Thin vermilion border, Short philtrum, Hypertelorism, Short nose, Upslanted palpeb... |
OMIM:617991 |
| Oculomaxillofacial Dysostosis |
|
Camptodactyly of finger, Abnormal eyelid morphology, Underdeveloped nasal alae, Micrognathia, Ups... |
ORPHA:1794 |
| Craniodigital-Intellectual Disability Syndrome |
|
Short nose, Finger syndactyly, Long eyelashes, Thick eyebrow, Spina bifida occulta, Micrognathia,... |
ORPHA:1514 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect |
OMIM:607941 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short 3rd metacarpal, Short toe, Broad thumb, Short 5th metacarpal, 3-4 finger cutaneous syndacty... |
ORPHA:370010 |
| Pallister-Hall-Like Syndrome |
|
Hypothalamic hamartoma, Postaxial hand polydactyly, Short nose, Anterior hypopituitarism, Abnorma... |
OMIM:241800 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Open bite, Narrow mouth, Downturned corners of mouth, Mandibular prognathia, Short distal phalanx... |
ORPHA:1327 |
| Chst3-Related Skeletal Dysplasia |
|
Scoliosis, Highly arched eyebrow, Genu valgum, Long philtrum, Sparse eyebrow, Hypertelorism, Dela... |
ORPHA:263463 |
| Nemaline Myopathy 9 |
|
High palate, Micrognathia, Cleft palate |
OMIM:615731 |
| Codas Syndrome |
|
Scoliosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Short nose, Coronal clef... |
ORPHA:1458 |
| Wiedemann-Steiner Syndrome |
|
Short phalanx of finger, Narrow palpebral fissure, Downslanted palpebral fissures, High palate, W... |
OMIM:605130 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Long philtrum, Hypertelorism, Short phalanx of finger, Upslanted palpebral fissure, Wide mouth, W... |
OMIM:614684 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Arthrogryposis multiplex congenita, Bulbous nose, Choanal stenosis, Narrow palpebral fissure, Low... |
OMIM:236500 |
| Ring Chromosome 6 Syndrome |
|
Hypertelorism, Epicanthus, Short distal phalanx of finger, Wide nasal bridge, Short neck |
ORPHA:1448 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Highly arched eyebrow, Long philtrum, Hypertelorism, Short nose, Smooth philtrum, Thin upper lip ... |
ORPHA:438178 |
| Mental Retardation, Buenos Aires Type |
|
Carious teeth, Mandibular prognathia, Downslanted palpebral fissures, High palate, Curly eyelashe... |
OMIM:249630 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Scoliosis, Carious teeth, Down-sloping shoulders, Abnormality of the nose, Epicanthus, Abnormal p... |
ORPHA:1390 |
| Cornelia De Lange Syndrome 2 |
|
Highly arched eyebrow, Downturned corners of mouth, Micrognathia, Long eyelashes, Synophrys, Brac... |
OMIM:300590 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Abnormal femoral neck/head morphology, Downturned corners of mouth, Thoracic kyphosis, Ovoid vert... |
ORPHA:163649 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly eyelashes, Short neck, Depressed nasal bridge, Long philtrum, Blepharophimosis, Hypoplastic... |
ORPHA:163654 |
| Keipert Syndrome |
|
Broad distal phalanx of finger, Hypertelorism, Broad thumb, Downturned corners of mouth, Thick up... |
OMIM:301026 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Thin vermilion border, Craniosynostosis, Patent ductus arteriosus, Micrognathia, Micropenis, Hydr... |
ORPHA:171839 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short phalanx of finger, Carpal bone hypoplasia, Anterior scalloping of vertebral bodies, Small e... |
OMIM:611717 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Carious teeth, Atrial septal defect, Abnormal heart morphology, Patent ductus arteriosus, Smooth ... |
ORPHA:363444 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Scoliosis, Pear-shaped nose, Coxa magna, Long philtrum, Short metatarsal, Short phalanx of finger... |
OMIM:190351 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Scoliosis, Abnormal dental enamel morphology, Hypertelorism, Bulbous nose, Abnormal form of the v... |
ORPHA:2180 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Platyspondyly, Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Ovoid ve... |
OMIM:609052 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Pierre-Robin sequence, Short distal phalanx of finger, Glossoptosis, Cleft palate, Micrognathia |
OMIM:311895 |
| Monosomy 5P |
|
Scoliosis, Hypertelorism, Finger syndactyly, Microretrognathia, Epicanthus, Wide nasal bridge, Sm... |
ORPHA:281 |
| Brachydactyly, Type A1, B |
|
Short middle phalanx of finger, Broad distal hallux, Type A brachydactyly, Short 5th metacarpal, ... |
OMIM:607004 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Convex nasal ridge, Abnormal palate morphology, Mesomelia, Tooth agenesis, Abnormal shoulder morp... |
ORPHA:1277 |
| Temple-Baraitser Syndrome |
|
Long philtrum, Hypertelorism, Broad thumb, Downturned corners of mouth, Epicanthus, Thick nasal a... |
OMIM:611816 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macroglossia, Bulbous nose, Open mouth, Macrotia, Everted lower lip vermilion, Upslanted palpebra... |
OMIM:616789 |
| Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Microretrognathia, Long philtrum, Short nose |
OMIM:218010 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Thin vermilion border, Carious teeth, Hypertelorism, Short nose, Thick lower lip vermilion, Abnor... |
ORPHA:2701 |
| Chromosome 20Q11-Q12 Deletion Syndrome |
|
Short philtrum, Hypertelorism, Finger clinodactyly, Tarsal osteovalgus, Deeply set eye, Camptodac... |
OMIM:614257 |
| Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Short nose, Abnormal hair whorl, Ventricular septal defect, Hypoplasia of t... |
OMIM:614261 |
| Orofaciodigital Syndrome Iii |
|
Postaxial hand polydactyly, Bulbous nose, Tongue nodules, Short sternum, Low-set ears, Bifid tong... |
OMIM:258850 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Overfolded helix, Camptodactyly, Peripheral pulmonary artery stenosis, Duplicated collecting syst... |
OMIM:280000 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Thin vermilion border, Abnormal dental enamel morphology, Narrow mouth, Underdeveloped nasal alae... |
OMIM:257850 |
| Brachydactyly, Type D |
|
Broad distal phalanx of the thumb, Type D brachydactyly, Broad distal phalanx of the hallux |
OMIM:113200 |
| Pde4D Haploinsufficiency Syndrome |
|
Abnormal dental enamel morphology, Short metatarsal, Short phalanx of finger, Mandibular prognath... |
ORPHA:439822 |
| Nasodigitoacoustic syndrome |
|
Broad distal phalanx of finger, Short 3rd metacarpal, Hypertelorism, Short phalanx of finger, Bro... |
OMIM:255980 |
| Leri Pleonosteosis |
|
Scoliosis, Camptodactyly of finger, Cubitus valgus, Broad thumb, Abnormality of finger, Blepharop... |
ORPHA:2900 |
| Intellectual Disability, Wolff Type |
|
Scoliosis, Camptodactyly of finger, Hypertelorism, Bulbous nose, Broad thumb, Thick lower lip ver... |
ORPHA:3080 |
| Fraser Syndrome |
|
Underdeveloped nasal alae, Dental crowding, Atresia of the external auditory canal, Oral cleft, M... |
ORPHA:2052 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Cleft palate, Bifid uvula, Microcephaly, Retrognathia, Micrognathia, Submu... |
ORPHA:2521 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Platyspondyly, Hypertelorism, Short nose, Overlapping toe, Epicanthus, Narrow pelvis bone, Short ... |
OMIM:616723 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Platyspondyly, Hypertelorism, Micrognathia, Preaxial polydactyly, Epicanthus, Postaxial polydacty... |
OMIM:617866 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Long philtrum, Thin vermilion border, Short metatarsal, Deeply set eye, Epicanthus, Short metacar... |
OMIM:617157 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... |
OMIM:613854 |
| Brachydactyly, Type A4 |
|
Aplasia of the middle phalanges of the toes, Short middle phalanx of the 2nd finger, Type A brach... |
OMIM:112800 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Dislocated radial head, Long philtrum, Hypertelorism, Short nose, Pulmonary artery atresia, Synop... |
ORPHA:401935 |
| Otopalatodigital Syndrome, Type I |
|
Scoliosis, Abnormality of the fifth metatarsal bone, Narrow mouth, Sandal gap, Short distal phala... |
OMIM:311300 |
| Long-Thumb Brachydactyly Syndrome |
|
Short finger, Long thumb, Brachydactyly |
OMIM:112430 |
| Cranioectodermal Dysplasia |
|
Abnormal dental enamel morphology, Taurodontia, Finger syndactyly, Rhizomelia, Everted lower lip ... |
ORPHA:1515 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Genu valgum, Hypertelorism, Short nose, Anosmia, Abnormality of the nares, Synophrys, Abnormality... |
ORPHA:1295 |
| 3Mc Syndrome 2 |
|
Joint hypermobility, Prominence of the premaxilla, Craniosynostosis, Downturned corners of mouth,... |
OMIM:265050 |
| Recombinant Chromosome 8 Syndrome |
|
Downturned corners of mouth, Camptodactyly, Patent ductus arteriosus, Double outlet right ventric... |
OMIM:179613 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Scoliosis, Oligodontia, Hypertelorism, Kyphosis, Everted lower lip vermilion, Large hands, Anodon... |
ORPHA:276630 |
| Cenani-Lenz Syndrome |
|
Scoliosis, Abnormal dental enamel morphology, Elbow dislocation, Abnormality of the metacarpal bo... |
ORPHA:3258 |
| Desbuquois Dysplasia 1 |
|
Scoliosis, Short metatarsal, Narrow mouth, Phalangeal dislocation, Broad first metatarsal, Sandal... |
OMIM:251450 |
| Achondroplasia |
|
Limited elbow extension, Trident hand, Rhizomelia, Lumbar kyphosis in infancy, Malar flattening, ... |
OMIM:100800 |
| Burn-Mckeown Syndrome |
|
Thin vermilion border, Narrow mouth, Underdeveloped nasal alae, Hypomimic face, Mandibular progna... |
OMIM:608572 |
| Mosaic Trisomy 1 |
|
Oral cleft, Long toe, Congenital diaphragmatic hernia, Downslanted palpebral fissures, Complete d... |
ORPHA:1692 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Wide nasal base, Long philtrum, Broad thumb, Upslanted palpebral fissure, Deeply set eye, Thin up... |
OMIM:617763 |
| Teebi Hypertelorism Syndrome |
|
Highly arched eyebrow, Long philtrum, Hypertelorism, Short nose, Dental crowding, Broad palm, Ups... |
OMIM:145420 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Scoliosis, Hip dysplasia, Epiphyseal dysplasia, Limited elbow flexion, Short metacarpal, Talipes ... |
OMIM:226900 |
| Liang-Wang Syndrome |
|
Macroglossia, Hypertelorism, Downturned corners of mouth, Everted lower lip vermilion, Diastema, ... |
OMIM:618729 |
| Arthrogryposis, Distal, Type 2B2 |
|
Overlapping fingers, Narrow mouth, Camptodactyly, Adducted thumb, Sandal gap, Brachydactyly, Ulna... |
OMIM:618435 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping fingers, Highly arched eyebrow, Atrial septal defect, Macrotia, Ventricular septal de... |
OMIM:618142 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Bulbous nose, Laryngotracheomalacia, Patent ductus arteriosus, Cerebral cortical atrophy, Vesicou... |
OMIM:618454 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal lung morphology, Stillbirth, Upper limb phocomelia, Polydactyly, Abnormal heart morpholo... |
ORPHA:294975 |
| Gand Syndrome |
|
Short philtrum, Hypertelorism, Blepharophimosis, Deeply set eye, Narrow palpebral fissure, Wide m... |
OMIM:615074 |
| Cerebellofaciodental Syndrome |
|
Scoliosis, Taurodontia, Macrodontia of permanent maxillary central incisor, Laryngomalacia, Laryn... |
OMIM:616202 |
| Pfeiffer Syndrome |
|
Broad thumb, Choanal stenosis, Dental crowding, Mandibular prognathia, Choanal atresia, Downslant... |
OMIM:101600 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Broad thumb, Two carpal ossification centers present at birth, Flared iliac wing, Submucous cleft... |
OMIM:312870 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Periventricular leukomalacia, Microcephaly, Cardiomegaly |
OMIM:619170 |
| Gorlin Syndrome |
|
Scoliosis, Carious teeth, Hypertelorism, Palmar pits, Mandibular prognathia, Epicanthus, Hemivert... |
ORPHA:377 |
| Bowen-Conradi Syndrome |
|
Microcephaly, Micrognathia |
OMIM:211180 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Scoliosis, Highly arched eyebrow, Hypertelorism, Micrognathia, Epicanthus, Synophrys, Wide nasal ... |
OMIM:617062 |
| Long Qt Syndrome 16 |
|
Perimembranous ventricular septal defect, Patent ductus arteriosus after birth at term |
OMIM:618782 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Carious teeth, Short metatarsal, Short phalanx of finger, Widely spaced teeth, Postaxial polydact... |
OMIM:617102 |
| Muenke Syndrome |
|
Broad thumb, Hypertelorism, Short middle phalanx of finger, High palate, Proptosis, Capitate-hama... |
OMIM:602849 |
| Summitt Syndrome |
|
Genu valgum, Short 4th metacarpal, Camptodactyly of finger, Hypertelorism, Finger syndactyly, Sho... |
ORPHA:3210 |
| Mental Retardation, Autosomal Dominant 53 |
|
Downslanted palpebral fissures, Hypertelorism, Epicanthus |
OMIM:617798 |
| Craniofacial-Deafness-Hand Syndrome |
|
Hypertelorism, Short nose, Ulnar deviation of the hand, Ulnar deviation of the hand or of fingers... |
OMIM:122880 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... |
OMIM:615779 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Scoliosis, Carious teeth, Small epiphyses, High palate, Short femoral neck, Advanced ossification... |
OMIM:618363 |
| Arthrogryposis, Distal, Type 2E |
|
Narrow mouth, Trismus, Microcephaly, Micrognathia, Mild microcephaly |
OMIM:121070 |
| Odontochondrodysplasia |
|
Scoliosis, Platyspondyly, Delayed eruption of teeth, Short nose, Square pelvis bone, Micromelia, ... |
ORPHA:166272 |
| Brachyolmia Type 1, Hobaek Type |
|
Scoliosis, Short iliac bones, Kyphosis, Flattened proximal radial epiphyses, Back pain, Short lon... |
OMIM:271530 |
| Weyers Acrofacial Dysostosis |
|
Postaxial hand polydactyly, Solitary median maxillary central incisor, Clinodactyly of the 5th fi... |
OMIM:193530 |
| Fetal Valproate Spectrum Disorder |
|
Long philtrum, Thin vermilion border, Short nose, Narrow mouth, Downturned corners of mouth, Epic... |
ORPHA:1906 |
| Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Atrial septal defect, Aglossia, Patent ductus arteriosus, Micrognathia, Malar flatte... |
OMIM:241310 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... |
OMIM:617205 |
| Tetralogy Of Fallot |
|
Thin vermilion border, Proptosis, Clinodactyly of the 5th finger, Brachydactyly, Abnormal nasal m... |
ORPHA:3303 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Multiple renal cysts, Ventricular septal defect, Abnormal aortic morphology, Tooth agenesis, Cere... |
ORPHA:1166 |
| Nicolaides-Baraitser Syndrome |
|
Scoliosis, Thin vermilion border, Abnormality of the metacarpal bones, Sandal gap, Curly eyelashe... |
ORPHA:3051 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Oral cleft, Abnormality of the ribs, Renal hypoplasia/aplasia, A... |
ORPHA:1988 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormality of the dentition, Hand oligodactyly, Glossoptosis, Cleft palate, Micrognathia |
ORPHA:3104 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Scoliosis, Long philtrum, Hypertelorism, Short nose, Long eyelashes, Proptosis, Wide nasal bridge... |
OMIM:618577 |
| 3Q13 Microdeletion Syndrome |
|
Long philtrum, Hypertelorism, Epicanthus, Wide nasal bridge, Short neck, Anteverted nares, Abnorm... |
ORPHA:1621 |
| Deafness-Craniofacial Syndrome |
|
Short philtrum, Underdeveloped nasal alae, Abnormal palate morphology, Upslanted palpebral fissur... |
ORPHA:3241 |
| Nicolaides-Baraitser Syndrome |
|
Scoliosis, Wide nasal base, Long philtrum, Short metatarsal, Short phalanx of finger, Thick lower... |
OMIM:601358 |
| Suleiman-El-Hattab Syndrome |
|
Downturned corners of mouth, Overfolded helix, Polydactyly, Palpebral thickening, Hirsutism, Pate... |
OMIM:618950 |
| Microphthalmia With Limb Anomalies |
|
Sandal gap, Downslanted palpebral fissures, High palate, Depressed nasal bridge, Postaxial hand p... |
OMIM:206920 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Mandibular aplasia, Median cleft lip and palate, Gingival fibromatosis, Short nose, Micrognathia,... |
ORPHA:1832 |
| Agammaglobulinemia 5, Autosomal Dominant |
|
High palate, Hypertelorism, Epicanthus |
OMIM:613506 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Highly arched eyebrow, Short nose, Bulbous nose, Deeply set eye, Narrow palpebral fissure, Epican... |
OMIM:618828 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Scoliosis, Enamel hypoplasia, Oligodontia, Short metatarsal, Bulbous nose, Short phalanx of finge... |
OMIM:170390 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Downslanted palpebral fissures, Low posterior hairline, Micrognath... |
OMIM:220210 |
| Craniosynostosis 3 |
|
Ptosis, Brachydactyly, Hallux valgus, Single transverse palmar crease |
OMIM:615314 |
| Pallister W Syndrome |
|
Radial bowing, Cubitus valgus, Hypertelorism, Agenesis of central incisor, Camptodactyly, Agenesi... |
OMIM:311450 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Carpal bone hypoplasia, Flattened femoral head, Thoracic platyspondyly, Increased size of nasopha... |
ORPHA:457395 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Abnormal pelvis bone ossification, Abnormality of the metaphysis, Micrognathia, Wide nose, Depres... |
ORPHA:93271 |
| Sandestig-Stefanova Syndrome |
|
Hypoplasia of the corpus callosum, Oral cleft, Perimembranous ventricular septal defect, Primary ... |
OMIM:618804 |
| Miller-Dieker Syndrome |
|
Short nose, Epicanthus, Sacral dimple, Abnormality of upper lip, Clinodactyly of the 5th finger, ... |
ORPHA:531 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Arthrogryposis multiplex congenita, Narrow mouth, Micrognathia, Upslanted palpebral fissure, Cong... |
ORPHA:352490 |
| Mental Retardation, Autosomal Dominant 20 |
|
Short philtrum, Hypertelorism, Short nose, Downturned corners of mouth, Upslanted palpebral fissu... |
OMIM:613443 |
| Neu-Laxova Syndrome 2 |
|
Scoliosis, Rocker bottom foot, Hypertelorism, Micrognathia, Cleft palate, Depressed nasal ridge, ... |
OMIM:616038 |
| Microcephaly 13, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Cerebellar hypoplasia, Small hand, Short foot, Microcephaly, Micrognath... |
OMIM:616051 |
| Trisomy 17P |
|
Narrow mouth, Patent ductus arteriosus, Broad eyebrow, Oral cleft, Skeletal muscle atrophy, Downs... |
ORPHA:261290 |
| Brachydactyly, Type A2, With Microcephaly |
|
Clinodactyly of the 2nd toe, Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Absent ... |
OMIM:211369 |
| 2q37 monosomy |
|
Thin upper lip vermilion, Deeply set eye, Brachydactyly |
DECIPHER:44 |
| 20Q11.2 Microdeletion Syndrome |
|
Short philtrum, Hypertelorism, Finger clinodactyly, Deeply set eye, Camptodactyly, Adducted thumb... |
ORPHA:444051 |
| Distal Monosomy 1Q |
|
Thin vermilion border, Aplasia/Hypoplasia of the corpus callosum, Smooth philtrum, Microcephaly, ... |
ORPHA:36367 |
| Mental Retardation, Autosomal Recessive 61 |
|
Scoliosis, Highly arched eyebrow, Talipes equinovarus, Hypertelorism, Bulbous nose, Mandibular pr... |
OMIM:617773 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Multiple prenatal fractures, Cardiomegaly, Multiple rib fractures, Mi... |
OMIM:616897 |
| Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Postaxial hand polydactyly, Brachydactyly, Short 2nd toe, Short thumb |
OMIM:176305 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect, Short distal phalanx of finger, Hydranencephaly, C... |
OMIM:601355 |
| Mesomelia-Synostoses Syndrome |
|
Abnormality of tibia morphology, Bulbous nose, Narrow mouth, Abnormality of the metacarpal bones,... |
ORPHA:2496 |
| Neu-Laxova Syndrome 1 |
|
Short umbilical cord, Camptodactyly, Patent ductus arteriosus, Patent foramen ovale, Micrognathia... |
OMIM:256520 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Scoliosis, Hypertelorism, Kyphosis, Epicanthus, Small hand, Short foot, Talipes equinovarus, Hip ... |
OMIM:300434 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Convex nasal ridge, Genu valgum, Atrial septal defect, Hypoplasia of the ear cartilage, Low-set, ... |
ORPHA:1035 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate, Microcephaly, Abnormal heart morphology |
OMIM:600252 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Scoliosis, Platyspondyly, Distal ulnar epiphyseal stippling, Mesomelic arm shortening, Broad toe,... |
OMIM:609616 |
| Marshall Syndrome |
|
Wide tufts of distal phalanges, Irregular distal femoral epiphysis, Ulnar bowing, Micrognathia, D... |
OMIM:154780 |
| Faciocardiomelic Syndrome |
|
Long philtrum, Hyperplasia of the maxilla, Hypoplastic pelvis, Polydactyly, Short eyelashes, Wide... |
OMIM:612731 |
| Trisomy 9P |
|
Scoliosis, Hypertelorism, Impacted tooth, Downturned corners of mouth, Dental crowding, Kyphosis,... |
ORPHA:236 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Scoliosis, Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Short long bo... |
OMIM:618728 |
| Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome |
|
Bulbous nose, Open mouth, Downturned corners of mouth, Patent ductus arteriosus, Short distal pha... |
OMIM:220500 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Broad thumb, Bulbous nose, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Bi... |
OMIM:612474 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Atrial septal defect, Situs inversus totalis, Porencephalic cyst, Cerebellar hypoplasia, Tetralog... |
OMIM:601322 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Hypertelorism, Epicanthus, Depressed nasal bridge |
OMIM:616911 |
| Ruvalcaba Syndrome |
|
Scoliosis, Convex nasal ridge, Thin vermilion border, Abnormality of vertebral epiphysis morpholo... |
ORPHA:3121 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Flared iliac wing, Thoracic kyphosis, Small epiphyses, High palate, Short femoral neck, Short nec... |
OMIM:300232 |
| 20P13 Microdeletion Syndrome |
|
Highly arched eyebrow, Hypertelorism, Wide anterior fontanel, Finger syndactyly, Polydactyly, Dee... |
ORPHA:313781 |
| Brachydactyly, Combined B And E Types |
|
Broad distal phalanx of finger, Short fifth metatarsal, Short 4th metacarpal, Broad thumb, Short ... |
OMIM:112440 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Convex nasal ridge, Hypertelorism, Abnormal form of the vertebral bodies, Hypoplasia of the maxil... |
ORPHA:93262 |
| Primary Ciliary Dyskinesia |
|
Bronchiectasis, Nasal polyposis, Intestinal malrotation, Atrial situs ambiguous, Double outlet ri... |
ORPHA:244 |
| Microcephaly 8, Primary, Autosomal Recessive |
|
Microcephaly, Retrognathia |
OMIM:614673 |
| Even-Plus Syndrome |
|
Highly arched eyebrow, Atrial septal defect, Agenesis of corpus callosum, Sparse hair, Short nose... |
OMIM:616854 |
| Roifman Syndrome |
|
Long philtrum, Short toe, Biconvex vertebral bodies, Hypertelorism, Underdeveloped nasal alae, Pr... |
ORPHA:353298 |
| Brachydactyly Type A2 |
|
Type A2 brachydactyly, Short middle phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hy... |
ORPHA:93396 |
| Acromegaloid Facial Appearance Syndrome |
|
Abnormality of the tongue, Highly arched eyebrow, Macroglossia, Hypertelorism, Bulbous nose, Blep... |
ORPHA:965 |
| Multiple Synostoses Syndrome |
|
Broad thumb, Cone-shaped epiphysis, Symphalangism affecting the phalanges of the hand, Bilateral ... |
ORPHA:3237 |
| Zechi-Ceide Syndrome |
|
Thin vermilion border, Oligodontia, Short metatarsal, Downturned corners of mouth, Mandibular pro... |
ORPHA:217017 |
| Fg Syndrome 4 |
|
Scoliosis, Hypertelorism, Wide nasal bridge |
OMIM:300422 |
| Tetrasomy 12P |
|
Long philtrum, Delayed eruption of teeth, Hypertelorism, Short nose, Downturned corners of mouth,... |
ORPHA:884 |
| Rhizomelic Syndrome, Urbach Type |
|
Triphalangeal thumb, Abnormality of the tongue, Preaxial hand polydactyly, Wide anterior fontanel... |
ORPHA:3098 |
| Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Hypertelorism, Short nose, Open mouth, Drooling, Broad nasal tip, Downslanted palpebral fissures,... |
OMIM:613670 |
| Distal Monosomy 10Q |
|
Craniosynostosis, Short metatarsal, Acute kidney injury, Widow's peak, Patent ductus arteriosus, ... |
ORPHA:96148 |
| Orofaciodigital Syndrome Vi |
|
Preaxial hand polydactyly, Hypertelorism, Toe syndactyly, Central Y-shaped metacarpal, Tongue nod... |
OMIM:277170 |
| Feingold Syndrome 2 |
|
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, Short middle phal... |
OMIM:614326 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Scoliosis, Short hallux, Overlapping fingers, Postaxial polydactyly, Adducted thumb, Short distal... |
OMIM:618167 |
| Aorta Coarctation |
|
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... |
ORPHA:1457 |
| Brachydactyly, Type B1 |
|
Hypoplastic sacrum, Broad thumb, Wide anterior fontanel, Short middle phalanx of finger, Aplasia/... |
OMIM:113000 |
| Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate |
|
Hypoplasia of the corpus callosum, Microcephaly, Cleft upper lip, Cleft palate |
OMIM:601420 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Oligodactyly, Almond-shaped palpebral fissure, Hypertelorism, Underdeveloped nasal alae, Downturn... |
ORPHA:521308 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Delayed eruption of teeth, Depressed nasal tip, Abnormality of the philt... |
ORPHA:2863 |
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Hypertelorism, Abnormal nasopharynx morphology, Nasal congestion, Mandibular prognathia, Wide nas... |
OMIM:218400 |
| Roifman Syndrome |
|
Long philtrum, Short toe, Biconvex vertebral bodies, Underdeveloped nasal alae, Prominent eyelash... |
OMIM:616651 |
| Mesomelic Limb Shortening And Bowing |
|
Mesomelic arm shortening, Cleft palate, Retrognathia, Micrognathia, Mesomelic leg shortening |
OMIM:249710 |
| Gombo Syndrome |
|
Clinodactyly, Brachydactyly, Radial deviation of finger |
OMIM:233270 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hand polydactyly, Hydrocephalus, Enlarged kidney, Short humerus, Absent radius,... |
OMIM:314390 |
| Emery-Nelson Syndrome |
|
Camptodactyly of finger, Long philtrum, Contractures of the interphalangeal joint of the thumb, A... |
ORPHA:1927 |
| Hypochondroplasia |
|
Scoliosis, Hyperlordosis, Short toe, Abnormal form of the vertebral bodies, Abnormality of the el... |
ORPHA:429 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Underdeveloped nasal alae, Ulnar deviation of the hand, Narrow greater sciatic notch, Congenital ... |
OMIM:263210 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Scoliosis, Long philtrum, Narrow mouth, Dental crowding, Microretrognathia, Camptodactyly, Mandib... |
OMIM:300998 |
| Ring Chromosome 14 Syndrome |
|
Hypertelorism, Epicanthus, Downslanted palpebral fissures, High palate, Short neck, Anteverted na... |
OMIM:616606 |
| Verheij Syndrome |
|
Long philtrum, Renal agenesis, Short nose, Renal hypoplasia, Cerebral atrophy, Wide nasal bridge,... |
OMIM:615583 |
| Craniofaciofrontodigital Syndrome |
|
Long philtrum, Abnormal thumb morphology, Short nose, Epicanthus, Thick vermilion border, Wide na... |
ORPHA:363705 |
| Parc Syndrome |
|
Microretrognathia, Cleft palate |
OMIM:600331 |
| Aminopterin Syndrome Sine Aminopterin |
|
Highly arched eyebrow, Oligodontia, Hypertelorism, Micrognathia, Narrow palpebral fissure, Rudime... |
OMIM:600325 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypertelorism, Short nose, Polydactyly, Epicanthus, Hypoplastic ischia, Depressed nasal bridge |
OMIM:616910 |
| Temtamy Syndrome |
|
Convex nasal ridge, Hypertelorism, Thick lower lip vermilion, Micrognathia, Abnormal palate morph... |
ORPHA:1777 |
| Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Camptodactyly of finger, Broad thumb, Type B brachydactyly, Short distal phalanx of finger |
ORPHA:1471 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Per... |
ORPHA:1209 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Non-midline cleft lip, Aplasia/Hypoplasia of the radius, Anencephaly, ... |
ORPHA:2476 |
| Baraitser-Winter Syndrome 1 |
|
Overfolded helix, Patent ductus arteriosus, Oral cleft, Sensorineural hearing impairment, Low pos... |
OMIM:243310 |
| Liebenberg Syndrome |
|
2-3 finger syndactyly, Joint contracture of the 5th finger, Abnormality of the carpal bones, Meta... |
OMIM:186550 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Scoliosis, Hip dysplasia, Kyphosis, Mandibular prognathia, Hypoplastic iliac wing, Abnormality of... |
ORPHA:1858 |
| Char Syndrome |
|
Highly arched eyebrow, Short philtrum, Hypertelorism, Thick eyebrow, Ptosis, Triangular mouth, Br... |
OMIM:169100 |
| Juberg-Hayward Syndrome |
|
Scoliosis, Highly arched eyebrow, Hypoplasia of the radius, Abnormal eyebrow morphology, Hypertel... |
ORPHA:2319 |
| Trisomy 4P |
|
Scoliosis, Radial club hand, Camptodactyly of finger, Preaxial hand polydactyly, Hypertelorism, C... |
ORPHA:1738 |
| Coffin-Siris Syndrome 5 |
|
Low anterior hairline, Short philtrum, Atrial septal defect, Thick lower lip vermilion, Hypoplasi... |
OMIM:616938 |
| Van Der Woude Syndrome 2 |
|
Cleft palate, Cleft upper lip, Anodontia |
OMIM:606713 |
| Sillence Syndrome |
|
Scoliosis, Large iliac wing, Abnormal proximal phalanx morphology of the hand, Broad thumb, Campt... |
ORPHA:3168 |
| C Syndrome |
|
Patent ductus arteriosus, High palate, Micrognathia, Dislocated radial head, Postaxial hand polyd... |
OMIM:211750 |
| Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot, Aplasia/Hypoplasia of the corpus callosum, Dandy-Walker malformation, Cleft ... |
ORPHA:217 |
| 16P13.11 Microduplication Syndrome |
|
Craniosynostosis, Hand polydactyly, Atrial septal defect, Ventricular septal defect, Joint hyperf... |
ORPHA:261243 |
| Familial Scaphocephaly Syndrome, Mcgillivray Type |
|
Open bite, Toe syndactyly, Hypertelorism, Upslanted palpebral fissure, Broad hallux phalanx, Mand... |
ORPHA:168624 |
| Brachydactyly Type C |
|
Type C brachydactyly, Stippling of the epiphysis of the distal phalanx of the thumb, Short metata... |
ORPHA:93384 |
| Mental Retardation, Autosomal Dominant 26 |
|
Scoliosis, Highly arched eyebrow, Wide nasal base, Short philtrum, Hypertelorism, Narrow mouth, K... |
OMIM:615834 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Microcephaly, Micrognathia, Cleft palate |
OMIM:616570 |
| 3P25.3 Microdeletion Syndrome |
|
Broad thumb, Cerebral white matter atrophy, Downturned corners of mouth, Mandibular prognathia, P... |
ORPHA:435638 |
| Jackson-Weiss Syndrome |
|
Convex nasal ridge, Hypertelorism, Short metatarsal, Toe syndactyly, Broad hallux phalanx, Broad ... |
ORPHA:1540 |
| Acrofrontofacionasal Dysostosis |
|
Eyelid coloboma, Camptodactyly of finger, Hypertelorism, Broad nasal tip, Broad thumb, Abnormalit... |
ORPHA:1784 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Scoliosis, Long philtrum, Short nose, Kyphosis, Distichiasis, High palate, Micrognathia |
ORPHA:2598 |
| Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Bulbous nose, Abnormal renal collecting system morphology, High palate, Elbow flexion contracture... |
OMIM:616809 |
| Keipert Syndrome |
|
Short hallux, Broad distal phalanx of finger, Hypertelorism, Broad thumb, Hypoplasia of the maxil... |
ORPHA:2662 |
| 5Q14.3 Microdeletion Syndrome |
|
Short philtrum, Toe syndactyly, Short nose, Open mouth, Deeply set eye, Upslanted palpebral fissu... |
ORPHA:228384 |
| Thakker-Donnai Syndrome |
|
Agenesis of corpus callosum, Bulbous nose, Communicating hydrocephalus, Macrotia, Narrow mouth, D... |
ORPHA:1780 |
| Hadziselimovic Syndrome |
|
Low anterior hairline, Ventricular hypertrophy, Atrial septal defect, Anteverted nares, Ventricul... |
OMIM:612946 |
| Craniofrontonasal Dysplasia |
|
Scoliosis, Camptodactyly of finger, Hypertelorism, Hand polydactyly, Finger syndactyly, Broad hal... |
ORPHA:1520 |
| Non-Distal Monosomy 10Q |
|
Overlapping fingers, Upslanted palpebral fissure, Epicanthus, Synophrys, Wide nasal bridge, Bilat... |
ORPHA:1581 |
| Brachydactyly, Type A1, With Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, And Mental Retardation |
|
Scoliosis, Short proximal phalanx of finger, Short metatarsal, Bulbous nose, Short middle phalanx... |
OMIM:613627 |
| Brachydactyly-Distal Symphalangism Syndrome |
|
Camptodactyly of finger, Distal symphalangism of hands, Short 1st metacarpal, Aplasia of the midd... |
OMIM:113450 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse eyebrow, Mandibular prognathia, Left superior vena cava draining to coronary sinus, Downsl... |
ORPHA:464738 |
| Diabetes Insipidus, Neurohypophyseal |
|
Long philtrum, Hypertelorism, Short nose, Wide nose |
OMIM:125700 |
| Tarp Syndrome |
|
Tongue nodules, Postaxial polydactyly, High palate, Micrognathia, Prominent antihelix, Deep palma... |
OMIM:311900 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Epiphyseal stippling, Pachygyria, Wide nasal bridge, Low-set ears, Renal cyst, Colpocephaly |
OMIM:614870 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Scoliosis, Narrow mouth, Downslanted palpebral fissures, Exaggerated cupid's bow, Micrognathia, H... |
OMIM:618659 |
| Orofaciodigital Syndrome Viii |
|
Hypertelorism, Broad nasal tip, Polydactyly, Short tibia, Cleft palate, Hypoplasia of the epiglot... |
OMIM:300484 |
| Odontochondrodysplasia 1 |
|
Scoliosis, Short phalanx of finger, Flared iliac wing, Flat acetabular roof, Small epiphyses, Con... |
OMIM:184260 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hip dysplasia, Type E brachydactyly, Platyspondyly, Delayed pubic bone ossification, Abnormal hip... |
ORPHA:1856 |
| Blepharocheilodontic Syndrome 2 |
|
Hypertelorism, Ectropion of lower eyelids, Conical tooth, Tooth agenesis, Distichiasis, Eurybleph... |
OMIM:617681 |
| Vitamin K Antagonist Embryofetopathy |
|
Macroglossia, Epiphyseal stippling, Punctate vertebral calcifications, Short nose, Hypertelorism,... |
ORPHA:1914 |
| Pallister-Hall Syndrome |
|
Y-shaped metacarpals, Hydroureter, Atresia of the external auditory canal, Natal tooth, Choanal a... |
OMIM:146510 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Carious teeth, Radioulnar synostosis, Abnormal palate morphology, Abnormality of the dentition, M... |
ORPHA:3270 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Sparse eyebrow, Camptodactyly, Bilateral single transverse palmar creases, Mild hearing impairmen... |
ORPHA:459061 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Lumbar platyspondyly, Abnormal hip joint morphology, Flattened femoral head, Thoracic platyspondy... |
ORPHA:166011 |
| Metatropic Dysplasia |
|
Scoliosis, Platyspondyly, Anisospondyly, Long coccyx, Kyphosis, Flared femoral metaphysis, Abnorm... |
OMIM:156530 |
| Thai Symphalangism Syndrome |
|
Postaxial hand polydactyly, Distal symphalangism of hands, Short finger, Proximal symphalangism o... |
OMIM:608028 |
| Otopalatodigital Syndrome Type 2 |
|
Oligodontia, Tarsal synostosis, Narrow mouth, Flared iliac wing, Elbow dislocation, Hypoplastic f... |
ORPHA:90652 |
| 20P12.3 Microdeletion Syndrome |
|
Long philtrum, Thickened helices, Atrial septal defect, Broad thumb, Narrow mouth, Hypoplasia of ... |
ORPHA:261295 |
| 3C Syndrome |
|
Intestinal malrotation, Oral cleft, Downslanted palpebral fissures, High, narrow palate, Microgna... |
ORPHA:7 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Hypertelorism, Finger clinodactyly, Abnormal number of incisors, Epicanthus, Ptosis, Bilateral ta... |
ORPHA:2958 |
| Coffin-Siris Syndrome 7 |
|
Short philtrum, Hypertelorism, Wide mouth, Thin upper lip vermilion, Thick eyebrow, Clinodactyly,... |
OMIM:618027 |
| Tetraamelia Syndrome 2 |
|
Hypoplastic pulmonary veins, Ankyloglossia, Ventricular septal defect, Microretrognathia, Glossop... |
OMIM:618021 |
| Pseudoachondroplasia |
|
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Carpal bone... |
OMIM:177170 |
| 8Q12 Microduplication Syndrome |
|
Highly arched eyebrow, Long philtrum, Abnormal cranial nerve morphology, Atrial septal defect, Na... |
ORPHA:228399 |
| Ohdo Syndrome |
|
Long philtrum, Thin vermilion border, Short nose, Blepharophimosis, Narrow mouth, Hypoplasia of t... |
OMIM:249620 |
| Trisomy 12P |
|
Hypertelorism, Short nose, Downturned corners of mouth, Micrognathia, Everted lower lip vermilion... |
ORPHA:1699 |
| Acrocapitofemoral Dysplasia |
|
Scoliosis, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finger, Cone-shaped... |
OMIM:607778 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... |
ORPHA:174 |
| Anauxetic Dysplasia 2 |
|
Hyperlordosis, Cubitus valgus, Macroglossia, Hypoplasia of the femoral head, Ovoid vertebral bodi... |
OMIM:617396 |
| Isolated Brachycephaly |
|
Metacarpal synostosis, Brachydactyly, Hypertelorism, Proptosis |
ORPHA:35099 |
| Otospondylomegaepiphyseal Dysplasia |
|
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Short neck, Micrognathi... |
ORPHA:1427 |
| Al-Raqad Syndrome |
|
Narrow mouth, Short nose, Deeply set eye, Sandal gap, Thin upper lip vermilion, Brachydactyly |
OMIM:616459 |
| Autosomal Dominant Omodysplasia |
|
Long philtrum, Hypertelorism, Short nose, Elbow dislocation, Rhizomelia, Short 1st metacarpal, Sh... |
ORPHA:93328 |
| Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Sparse eyebrow, Bulbous nose, Hypertelorism, Upslanted palpebral fis... |
OMIM:616788 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Scoliosis, Wide nasal base, Long philtrum, Macroglossia, Delayed eruption of teeth, Talipes equin... |
OMIM:616354 |
| Fibrochondrogenesis 2 |
|
Platyspondyly, Short nose, Hypoplastic ilia, Metaphyseal cupping, Hypoplastic pubic bone, Malar f... |
OMIM:614524 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Thin upper lip vermilion, Pulmonic stenosis, Doub... |
ORPHA:3304 |
| Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Toe syndactyly, Abnormality of the philtrum, Abnormality of epiphysis mo... |
ORPHA:3409 |
| Mcdonough Syndrome |
|
Scoliosis, Open bite, Short philtrum, Hypertelorism, Underdeveloped nasal alae, Kyphosis, Mandibu... |
ORPHA:2471 |
| Ascher Syndrome |
|
Hypertelorism, Abnormal eyelid morphology, Blepharophimosis, Abnormality of upper lip, Ptosis, Up... |
ORPHA:1253 |
| Distal Trisomy 18Q |
|
Camptodactyly of finger, Carious teeth, Short nose, Abnormality of dental morphology, Micrognathi... |
ORPHA:1716 |
| Chromosome 15Q26-Qter Deletion Syndrome |
|
Blepharophimosis, Short middle phalanx of finger, Wide nasal bridge, Talipes equinovarus, Microgn... |
OMIM:612626 |
| Carpenter Syndrome 2 |
|
Craniosynostosis, Broad thumb, Narrow palate, Camptodactyly, Patent ductus arteriosus, Postaxial ... |
OMIM:614976 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Cubitus valgus, Short metatarsal, Abnormality of the vertebral column, Blepharophimosis, Enlarged... |
OMIM:151200 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Joint hypermobility, Short philtrum, Atrial septal defect, Narrow mouth, Ventricular septal defec... |
OMIM:617360 |
| Nablus Mask-Like Facial Syndrome |
|
Narrow mouth, Camptodactyly, High palate, Short neck, Hypoplasia of the maxilla, Depressed nasal ... |
OMIM:608156 |
| Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome |
|
Clubbing of fingers, Penile hypospadias, Superiorly displaced ears, Swan neck-like deformities of... |
ORPHA:329252 |
| Weaver-Williams Syndrome |
|
Microcephaly, Narrow mouth, Cleft palate |
ORPHA:3448 |
| Freeman-Sheldon Syndrome |
|
Scoliosis, Camptodactyly of finger, Long philtrum, Hypertelorism, Narrow mouth, Underdeveloped na... |
ORPHA:2053 |
| Conotruncal Heart Malformations |
|
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... |
OMIM:217095 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Thin vermilion border, Bulbous nose, Downturned corners of mouth, Hydroureter, Hirsutism, Patent ... |
OMIM:610759 |
| Prieto X-Linked Mental Retardation Syndrome |
|
Hypertelorism, Epicanthus, Abnormality of the dentition, Radial deviation of finger, Clinodactyly... |
OMIM:309610 |
| Oligodontia |
|
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... |
ORPHA:99798 |
| Mosaic Trisomy 14 |
|
Camptodactyly of finger, Hypertelorism, Blepharophimosis, Micrognathia, Wide mouth, Bilateral sin... |
ORPHA:1703 |
| Carey-Fineman-Ziter Syndrome |
|
Thin vermilion border, Aplasia/Hypoplasia of the tongue, Cerebral calcification, Skeletal muscle ... |
ORPHA:1358 |
| Camptodactyly Syndrome, Guadalajara, Type Ii |
|
Camptodactyly of finger, Short 3rd toe, Long philtrum, Short neck, Talipes equinovarus, Micrognat... |
OMIM:211920 |
| Waardenburg Syndrome, Type 3 |
|
Camptodactyly of finger, Scapular winging, Blepharophimosis, Mandibular prognathia, Synophrys, Wi... |
OMIM:148820 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Respiratory tract infection, Low anterior hairline, Decreased motor nerve conduction velocity, De... |
OMIM:218000 |
| Moebius Syndrome |
|
Short phalanx of finger, Split hand, Camptodactyly, Congenital fibrosis of extraocular muscles, L... |
OMIM:157900 |
| Spondyloperipheral Dysplasia |
|
Short metatarsal, Broad thumb, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... |
OMIM:271700 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral bo... |
OMIM:608940 |
| Dysostosis, Stanescu Type |
|
Scoliosis, Carious teeth, Massively thickened long bone cortices, Abnormal dental enamel morpholo... |
ORPHA:1798 |
| Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Brachydactyly, Short 2nd finger |
OMIM:190680 |
| Diastrophic Dysplasia |
|
Hypoplastic cervical vertebrae, Hitchhiker thumb, Laryngotracheal stenosis, Short finger, Irregul... |
OMIM:222600 |
| Skraban-Deardorff Syndrome |
|
Hyperplasia of the maxilla, Hypoplasia of the corpus callosum, Recurrent otitis media, Ventriculo... |
OMIM:617616 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Hypertelorism, Short nose, Open mouth, Dental crowding, Upslanted palpebral fissure, Mandibular p... |
OMIM:300143 |
| Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Long philtrum, Hypertelorism, Everted lower lip vermilion, Thick nasal alae, Synophrys, Hypoplasi... |
ORPHA:357175 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Postaxial polydactyly, Short distal phalanx of finger, Flat acetabular roof, High pa... |
OMIM:614091 |
| Syndactyly, Type V |
|
3-4 toe syndactyly, 4-5 toe syndactyly, Camptodactyly of finger, Fused fourth and fifth metacarpa... |
OMIM:186300 |
| Craniofacial Dyssynostosis |
|
Short philtrum, Hypertelorism, Underdeveloped nasal alae, Open mouth, Micrognathia, Epicanthus, S... |
ORPHA:1516 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect, Narrow mouth, Cleft palate, Microcephaly, Micrognathia, Malar flattening |
ORPHA:93946 |
| Abruzzo-Erickson Syndrome |
|
Short toe, Atrial septal defect, Toe syndactyly, Radioulnar synostosis, Macrotia, Conductive hear... |
ORPHA:921 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Abnormality of the pinna, Hypopl... |
OMIM:228940 |
| Chromosome 15Q14 Deletion Syndrome |
|
Short philtrum, Atrial septal defect, Ventricular septal defect, Everted lower lip vermilion, Ten... |
OMIM:616898 |
| Taurodontism, Microdontia, And Dens Invaginatus |
|
Microdontia, Dens in dente, Pulp calcification, Taurodontia |
OMIM:313490 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Long philtrum, Hypertelorism, Short nose, Wide nasal bridge, Anteverted nares, Depressed nasal br... |
OMIM:616430 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Patent ductus arteriosus, Pulmonary artery atresia, Double outlet right ventricle, Long toe, Pate... |
OMIM:618316 |
| Rhiny |
|
Thin vermilion border, Anteverted nares, Short nose |
OMIM:180360 |
| Non-Distal Trisomy 13Q |
|
Long philtrum, Thin vermilion border, Postaxial hand polydactyly, Short nose, Micrognathia, Abnor... |
ORPHA:1702 |
| Atelosteogenesis Type Ii |
|
Short phalanx of finger, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatars... |
ORPHA:56304 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Downturned corners of mouth, Patent ductus arteriosus, Abnormal cardiac septum morphology, Microg... |
OMIM:217980 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Scoliosis, Long philtrum, Short philtrum, Hypertelorism, Narrow mouth, Anteverted nares, Upslante... |
OMIM:618443 |
| Intellectual Disability, Birk-Barel Type |
|
Highly arched eyebrow, Short philtrum, Congenital finger flexion contractures, Open mouth, High, ... |
ORPHA:166108 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Prominent nasolabial fold, Open mouth, Downturned corners of mouth, Mandibular prognathia, Abnorm... |
ORPHA:391372 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Platyspondyly, Hypertelorism, Kyphosis, Short finger, Hyperextensibility of the finger joints, Wi... |
OMIM:313420 |
| Dyssegmental Dysplasia With Glaucoma |
|
Platyspondyly, Wide anterior fontanel, Broad long bones, Proptosis, Short long bone, Cleft palate... |
OMIM:601561 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Coronal cleft vertebrae, Limb u... |
OMIM:118651 |
| Feingold Syndrome Type 2 |
|
Ventricular septal defect, Short middle phalanx of finger, Jejunal atresia, Short thumb, Microcep... |
ORPHA:391646 |
| Auriculocondylar Syndrome 2 |
|
Narrow mouth, Dental crowding, Micrognathia, Mandibular condyle aplasia, Cleft palate, Glossoptos... |
OMIM:614669 |
| Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Downslanted palpebral fissures, Micrognathia, Depressed nasal bridge, Ve... |
OMIM:254940 |
| Mental Retardation, Autosomal Dominant 21 |
|
Long philtrum, Thin vermilion border, Hypertelorism, Narrow mouth, Epicanthus, Long eyelashes, Sa... |
OMIM:615502 |
| Heart-Hand Syndrome Type 2 |
|
Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormal palate morphology, Short 5th metaca... |
ORPHA:1350 |
| Multiple Synostoses Syndrome 1 |
|
Fusion of midphalangeal joints, Tarsal synostosis, Underdeveloped nasal alae, Lower limb undergro... |
OMIM:186500 |
| Chromosome 18Q Deletion Syndrome |
|
Joint laxity, Choanal stenosis, Downturned corners of mouth, Mandibular prognathia, Atresia of th... |
OMIM:601808 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Broad palm, Rhizomelia, Mesomelia, Short foot, Short metacarpal, Brac... |
OMIM:611263 |
| Mental Retardation, Autosomal Recessive 35 |
|
Long philtrum, Hypertelorism, Downturned corners of mouth, Everted lower lip vermilion, Thick nas... |
OMIM:615162 |
| Raine Syndrome |
|
Enamel hypoplasia, Arthrogryposis multiplex congenita, Narrow mouth, Choanal stenosis, Hydrourete... |
OMIM:259775 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Highly arched eyebrow, Long philtrum, Ventricular hypertrophy, Atrial septal defect, Short nose, ... |
OMIM:300887 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Nephronophthisis, Macroglossia, Craniosynostosis, Short phalanx of finger, High palate, Cone-shap... |
OMIM:266920 |
| Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, Patent ductus arteriosus, Broad jaw, Congenital diap... |
OMIM:609029 |
| Cornelia De Lange Syndrome 1 |
|
Downturned corners of mouth, Hirsutism, Choanal atresia, Pneumonia, Sensorineural hearing impairm... |
OMIM:122470 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Underdeveloped nasal alae, Overfolded helix, Peripheral pulmonary artery stenosis, Cerebral white... |
ORPHA:436003 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Synostosis of carp... |
ORPHA:2639 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Short phalanx of finger, Downslanted palpebral fissures, High palate, Short femoral neck, Flat ca... |
OMIM:612350 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Polydactyly, Brachydactyly |
OMIM:617405 |
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Highly arched eyebrow, Atrial septal defect, Sparse eyebrow, Broad thumb, Ventricular septal defe... |
OMIM:600987 |
| Atelosteogenesis Type I |
|
Scoliosis, Platyspondyly, Short femur, Hypertelorism, Abnormal ossification involving the femoral... |
ORPHA:1190 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Joint hypermobility, Bulbous nose, Open mouth, High, narrow palate, Hip dysplasia, Long philtrum,... |
OMIM:618494 |
| Neurofaciodigitorenal Syndrome |
|
Hypoplasia of the premaxilla, Abnormality of the philtrum, Mandibular prognathia, Atresia of the ... |
ORPHA:2673 |
| Stickler Syndrome Type 1 |
|
Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis morphology, Short nose, Abnormal... |
ORPHA:90653 |
| Perlman Syndrome |
|
Short nose, Open mouth, Deeply set eye, Epicanthus, Smooth philtrum, Bilateral single transverse ... |
ORPHA:2849 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Abnormality of the antihelix, Overfolded helix, Atresia of the external auditory canal, Micrognat... |
ORPHA:79113 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Cubitus valgus, Short nose, Downturned corners of mouth, Epicanthus, Thick vermilion border, Prop... |
ORPHA:1185 |
| Hajdu-Cheney Syndrome |
|
Foot acroosteolysis, Joint laxity, Hirsutism, Intestinal malrotation, Patent ductus arteriosus, P... |
OMIM:102500 |
| Shashi-Pena Syndrome |
|
Scoliosis, Highly arched eyebrow, Deep palmar crease, Hypertelorism, Kyphosis, Proptosis, Ptosis,... |
OMIM:617190 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia of the proximal phalanges of the hand, Hypertelorism, Finger syndactyly, Hypoplasia of th... |
ORPHA:2256 |
| Kbg Syndrome |
|
Long philtrum, Oligodontia, Hypertelorism, Underdeveloped nasal alae, Widely-spaced maxillary cen... |
OMIM:148050 |
| Greig Cephalopolysyndactyly Syndrome |
|
Postaxial hand polydactyly, Broad thumb, Hypertelorism, Preaxial hand polydactyly, Toe syndactyly... |
ORPHA:380 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of the premaxilla, Narrow mouth, Intestinal malrotation, Oral cleft, Renal hypoplasia/... |
ORPHA:2166 |
| Short Stature-Obesity Syndrome |
|
Micromelia, Limb undergrowth, Clinodactyly of the 5th finger, Prominent nasal bridge, Micrognathi... |
OMIM:269870 |
| Pentasomy X |
|
Hip dysplasia, Camptodactyly of finger, Hypertelorism, Radioulnar synostosis, Micrognathia, Upsla... |
ORPHA:11 |
| Trisomy 1Q |
|
Narrow mouth, Patent ductus arteriosus, Congenital diaphragmatic hernia, Abnormality of the ribs,... |
ORPHA:261344 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Convex nasal ridge, Abnormality of the antihelix, Craniosynostosis, Short nose, Finger syndactyly... |
ORPHA:2145 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Oligodontia, Narrow palate, Narrow mouth, Camptodactyly, Hirsutism, Pericardial effusion, Bilater... |
OMIM:235510 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Narrow mouth, Short nose, Depressed nasal ridge, Abnormal oral cavity morphology, Anteverted nares |
ORPHA:1355 |
| Oculodentodigital Dysplasia |
|
Neurogenic bladder, Carious teeth, Abnormal dental enamel morphology, Underdeveloped nasal alae, ... |
ORPHA:2710 |
| Chand Syndrome |
|
