Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
Colonic Varices Without Portal Hypertension |
|
Colonic varices, Intestinal bleeding |
OMIM:120440 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 2 |
|
Colon cancer |
OMIM:609310 |
Lynch Syndrome I |
|
Colon cancer |
OMIM:120435 |
Colorectal Cancer, Susceptibility To, 3 |
|
Colon cancer |
OMIM:612229 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614331 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 7 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614385 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Orbital cyst, Microcornea, Microphthalmia |
OMIM:251505 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Cataract 20, Multiple Types |
|
Membranous cataract, Cataract |
OMIM:116100 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract, Microphthalmia |
OMIM:156850 |
Deafness, Autosomal Dominant 80 |
|
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... |
OMIM:619274 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
Regional Odontodysplasia |
|
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... |
ORPHA:83450 |
Deafness-Oligodontia Syndrome |
|
Sensorineural hearing impairment, Vertigo, Abnormality of the inner ear |
ORPHA:3230 |
Cheilitis Glandularis |
|
Thick lower lip vermilion, Abnormal salivary gland morphology |
ORPHA:1221 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:3216 |
Amelogenesis Imperfecta |
|
Taurodontia, Fragile teeth, Abnormal jaw morphology, Impaired mastication, Anterior open-bite mal... |
ORPHA:88661 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Anal atresia, Low-set ears, Tooth agenesis, Midshaft hypospadias, Renal hypoplasia/a... |
ORPHA:2863 |
Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia, Neonatal death |
OMIM:265430 |
Coxoauricular Syndrome |
|
Hearing impairment, Microtia |
OMIM:122780 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract, Microphthalmia |
OMIM:610092 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta |
OMIM:617297 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration |
OMIM:258700 |
Otodental Dysplasia |
|
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... |
OMIM:166750 |
Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear |
OMIM:618915 |
Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... |
OMIM:602588 |
Van Der Woude Syndrome |
|
Cleft upper lip, Hypodontia, Cleft palate, Lip pit, Abnormal salivary gland morphology, Lower lip... |
ORPHA:888 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
High palate, Sparse eyebrow, Sparse eyelashes, Hypospadias, Bilateral cleft lip and palate, Ename... |
OMIM:618874 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
15Q24 Microdeletion Syndrome |
|
Abnormality of the dentition, Downslanted palpebral fissures, Abnormality of the outer ear, Micro... |
ORPHA:94065 |
Trichomegaly |
|
Long eyelashes, Cataract |
OMIM:190330 |
Familial Adenomatous Polyposis 2 |
|
Adenomatous colonic polyposis, Colon cancer |
OMIM:608456 |
Ulnar-Mammary Syndrome |
|
Aplasia of the 5th metacarpal, Hypoplasia of the radius, Pyloric stenosis, Ventricular septal def... |
OMIM:181450 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Cat Eye Syndrome |
|
Tricuspid atresia, Cleft palate, Biliary atresia, Ventricular septal defect, Downslanted palpebra... |
OMIM:115470 |
Kimura Disease |
|
Abnormal salivary gland morphology |
ORPHA:482 |
Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia |
OMIM:301200 |
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma |
|
Microtia |
OMIM:611863 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, Colorectal polyposis |
ORPHA:401911 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration |
OMIM:271250 |
Orofaciodigital Syndrome V |
|
High palate, Hypodontia, Cleft palate, Unilateral cryptorchidism, Bifid tongue, Bifid uvula, Lobu... |
OMIM:174300 |
Bartsocas-Papas Syndrome 1 |
|
Ablepharon, Ankyloblepharon, Cleft palate, Absent thumb, Alopecia, Skin tags, Alopecia totalis, O... |
OMIM:263650 |
Microcephaly 6, Primary, Autosomal Recessive |
|
Microtia |
OMIM:608393 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cleft palate, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Absent thu... |
OMIM:274000 |
Mosaic Trisomy 14 |
|
High palate, Wide mouth, Ectopic anus, Hypoplasia of penis, Cleft palate, Hypospadias, Prominent ... |
ORPHA:1703 |
Pendred Syndrome |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of the cochle... |
ORPHA:705 |
17Q11.2 Microduplication Syndrome |
|
Malar flattening, Thin vermilion border, Bifid nose, Enamel hypoplasia, Thick nasal alae, Deviate... |
ORPHA:139474 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Protruding ear, Tooth agenesis, Renal hypoplasia/aplasia, Congenital diaphragmatic hernia, Cleft ... |
ORPHA:1166 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Ankyloblepharon, Cleft palate, Non-midline cleft lip, Cryptorchidism |
ORPHA:1074 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... |
OMIM:601369 |
Focal Dermal Hypoplasia |
|
Abnormal cardiac septum morphology, Telangiectasia of the skin, Alopecia, Abnormality of the dent... |
ORPHA:2092 |
Tonne-Kalscheuer Syndrome |
|
Narrow mouth, Small nail, Velopharyngeal insufficiency, Congenital diaphragmatic hernia, Malar fl... |
OMIM:300978 |
Emanuel Syndrome |
|
High palate, Cleft palate, Congenital hip dislocation, Ventricular septal defect, Anal atresia, M... |
OMIM:609029 |
Fontaine Progeroid Syndrome |
|
Absent nipple, Reduced subcutaneous adipose tissue, Hypertrichosis, Coarse hair, Microdontia, Dow... |
OMIM:612289 |
Burning Mouth Syndrome |
|
Parageusia, Burning mouth, Xerostomia, Smooth tongue, Abnormality of taste sensation, Tongue pain... |
ORPHA:353253 |
Robinow Syndrome, Autosomal Dominant 1 |
|
High palate, Triangular mouth, Depressed nasal bridge, Clitoral hypoplasia, Delayed eruption of t... |
OMIM:180700 |
De Barsy Syndrome |
|
High palate, Sparse hair, Excessive wrinkled skin, Congenital hip dislocation, Delayed eruption o... |
ORPHA:2962 |
Tetraamelia Syndrome 2 |
|
Glossoptosis, Bilateral cleft lip, Ankyloglossia, Micropenis |
OMIM:618021 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Cleft upper lip, Absent pulmonary artery, Cryptorchidism, Cleft palate, Micropenis, Hypospadias, ... |
OMIM:600460 |
Microphthalmia, Isolated 3 |
|
Anophthalmia, Ankyloblepharon, Sclerocornea, Microphthalmia |
OMIM:611038 |
Cataract 11, Multiple Types |
|
Cataract, Microphthalmia |
OMIM:610623 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Wide mouth, Bulbous nose, High, narrow palate, Upslanted palpebral fissure, Absent lacrimal punct... |
OMIM:273390 |
Cataract 9, Multiple Types |
|
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract, Microphthalmia |
OMIM:604219 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel |
OMIM:613211 |
Oligodontia |
|
Eclabion, Impaired mastication, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hy... |
ORPHA:99798 |
Intellectual Disability, Wolff Type |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Microretrognathia, Inguinal herni... |
ORPHA:3080 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Hypoplastic tricuspid valve, Exocrine pancreatic insufficiency, Biliary atr... |
ORPHA:2255 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Oral mucosal blisters, Hypodontia, Camptodactyly of finger, Carious teeth, Enamel hypoplasia, Pal... |
OMIM:226650 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Abnormal pinna morphology, Hepatomegaly, Upslanted palpebral fissure, Pancreat... |
OMIM:200995 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Micropenis, Hypospadias, Vaginal neoplasm, Abnormality of the uterus, A... |
ORPHA:1916 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Cornelia De Lange Syndrome 1 |
|
High palate, Malrotation of colon, Hiatus hernia, Short sternum, Cleft palate, Otitis media, Hypo... |
OMIM:122470 |
Pai Syndrome |
|
Cleft palate, Depressed nasal bridge, Bifid uvula, Downslanted palpebral fissures, Telecanthus, A... |
ORPHA:1993 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Oral mucosal blisters, Hyperhidrosis, Carious teeth |
ORPHA:79406 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cleft palate, Ventricular septal defect, Ambiguous genitalia, Pulmonary hypoplasia, Short long bo... |
OMIM:263520 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Enamel hypoplasia, Convex nasal ridge, Carious teeth |
OMIM:614564 |
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
High palate, Bulbous nose, Malar flattening, Depressed nasal bridge, Enamel hypoplasia, Anteverte... |
OMIM:600991 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Narrow mouth, Abnormal oral cavity morphology, Depressed nasal ridge, Hypospadias, Short nose, An... |
ORPHA:1355 |
Emanuel Syndrome |
|
High palate, Multiple joint contractures, Cleft palate, Congenital hip dislocation, Delayed erupt... |
ORPHA:96170 |
Renal Dysplasia-Limb Defects Syndrome |
|
High palate, Respiratory distress, Abnormal pinna morphology, Short sternum, Hypoplasia of the ra... |
OMIM:266910 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Enlarged kidn... |
OMIM:208540 |
16P11.2P12.2 Microduplication Syndrome |
|
Hypospadias, Cleft palate |
ORPHA:261204 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Ptosis, Microphthalmia |
OMIM:120433 |
Restrictive Dermopathy |
|
Multiple joint contractures, Sparse hair, Sparse eyebrow, Short nail, Sparse or absent eyelashes,... |
ORPHA:1662 |
Shaheen Syndrome |
|
Enamel hypoplasia, Hypohidrosis, Carious teeth |
OMIM:615328 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... |
OMIM:204700 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Upslanted palpebral fissure, Microcornea, Epicanthus, Cataract, Microphthalmia |
ORPHA:2528 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Broad nasal tip, Hypohidrosis, Carious teeth, Enamel hypoplasia, Thick vermilion border |
ORPHA:363523 |
Variant Abeta2M Amyloidosis |
|
Cardiac amyloidosis, Abnormality of the tongue, Chronic kidney disease, Hepatic amyloidosis, Abno... |
ORPHA:314652 |
Acrofacial Dysostosis 1, Nager Type |
|
Wide mouth, Cleft palate, Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Ventricu... |
OMIM:154400 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Thin vermilion border, Depressed nasal bridge, Long philtrum, Bifid uvula, Shawl scrotum, Antever... |
OMIM:615942 |
Czeizel-Losonci Syndrome |
|
High palate, Tracheoesophageal fistula, 2-3 finger syndactyly, Single transverse palmar crease, P... |
ORPHA:2437 |
Intellectual Disability-Strabismus Syndrome |
|
High palate, Recurrent gastroenteritis, Wide mouth, Abnormality of the dentition, Rocker bottom f... |
ORPHA:363528 |
Phocomelia, Schinzel Type |
|
Cleft palate, Hypoplasia of the radius, Tracheoesophageal fistula, Micromelia, Aplasia/Hypoplasia... |
ORPHA:2879 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Micropenis, Ambiguous genitalia, Testicular dysgenesis, Cryptorchidism, Perineal hypospadias, Mic... |
OMIM:615542 |
Duane-Radial Ray Syndrome |
|
Absent thumb, Hypoplasia of the radius, Ventricular septal defect, Hypoplasia of the ulna, Sandal... |
OMIM:607323 |
Barber-Say Syndrome |
|
High palate, Absent nipple, Wide mouth, Hypertrichosis, Sparse eyebrow, Microtia, first degree, D... |
OMIM:209885 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Dislocated radial head, Atrial septal defect, Intestinal malrotation, Long philtrum, Brachydactyl... |
ORPHA:401935 |
Marden-Walker Syndrome |
|
High palate, Cleft palate, Radioulnar synostosis, Pyloric stenosis, Pulmonary hypoplasia, Talipes... |
OMIM:248700 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Kilquist Syndrome |
|
Wide mouth, Gastroesophageal reflux, Intestinal malrotation, Xerostomia, Choanal atresia, Midgut ... |
OMIM:619080 |
48,Xxyy Syndrome |
|
Apnea, Cleft palate, Hypergonadotropic hypogonadism, Delayed eruption of teeth, Carious teeth, Ra... |
ORPHA:10 |
Microtia, Hearing Impairment, And Cleft Palate |
|
Microtia, Overfolded helix, Stenosis of the external auditory canal, Mixed hearing impairment, In... |
OMIM:612290 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
High palate, Webbed neck, Triangular mouth, Sparse hair, Overfolded helix, Coarse hair, Ventricul... |
OMIM:617506 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
High palate, Anal atresia, Atrial septal defect, Congenital diaphragmatic hernia, Narrow maxilla,... |
OMIM:617602 |
Vacterl/Vater Association |
|
Abnormal cardiac septum morphology, Cleft palate, Tracheoesophageal fistula, Anencephaly, Abnorma... |
ORPHA:887 |
Chromosome 15Q25 Deletion Syndrome |
|
Cleft upper lip, Low-set ears, Abnormal cardiac septum morphology, Webbed neck, Congenital diaphr... |
OMIM:614294 |
Lacrimoauriculodentodigital Syndrome |
|
Abnormal lacrimal duct morphology, Abnormality of the dentition, Absent lacrimal punctum, Microdo... |
ORPHA:2363 |
Lowry-Maclean Syndrome |
|
Cleft palate, Atrioventricular canal defect, Pyloric stenosis, Single transverse palmar crease, D... |
ORPHA:2409 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth |
OMIM:615887 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Abnormal lacrimal duct morphology, Streak ovary, Hypergonadotropic hypogonadism, Punctal stenosis... |
ORPHA:572333 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Prominent ear helix, Sparse hair, Flexion contracture, Inguinal hernia, Thin vermilion border, Ex... |
OMIM:614438 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Wide mouth, Abnormal cardiac septum morphology, Cleft palate, Short philtrum, Umbilical hernia, M... |
OMIM:618454 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
High palate, Bifid uvula, Midline central nervous system lipomas, Median cleft lip, Nasal polyposis |
OMIM:155145 |
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Anal atresia, Clinodactyly of the 5th finger, Gastroesophageal reflux, Atrial septal defect, Atri... |
OMIM:600123 |
Aplasia Of Lacrimal And Salivary Glands |
|
Lacrimal gland hypoplasia, Lacrimal gland aplasia, Xerostomia, Carious teeth |
OMIM:180920 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Iris coloboma, Microcoria, Anophthalmia, Microphthalmia |
OMIM:616428 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Cleft palate, Horseshoe kidne... |
ORPHA:3320 |
Orofaciodigital Syndrome I |
|
High palate, Cleft palate, Ovarian cyst, Lobulated tongue, Carious teeth, Downslanted palpebral f... |
OMIM:311200 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Ankyloblepharon, Microphthalmia |
ORPHA:85275 |
Dentinogenesis Imperfecta |
|
Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena... |
ORPHA:49042 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal hip bone morphology, Upper limb phocomelia, Syndactyly, Polydactyly, Abnormal lung morph... |
ORPHA:294975 |
Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
Vascular Ehlers-Danlos Syndrome |
|
Telangiectasia of the skin, Abnormality of hair texture, Alopecia, Excessive wrinkled skin, Abnor... |
ORPHA:286 |
Fanconi Anemia, Complementation Group D2 |
|
Absent thumb, Hypergonadotropic hypogonadism, Tracheoesophageal fistula, Horseshoe kidney, Comple... |
OMIM:227646 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Ventricular septal defect, Rectal prolapse, Horseshoe kidney, Pericard... |
OMIM:235510 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Ventricular septal defect, Downslanted palpebral fissures, Rocker bottom foot, Larg... |
OMIM:301056 |
Junctional Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Enamel hypoplasia, Atrophic scars, Gastrointestinal inflamm... |
ORPHA:79405 |
19Q13.11 Microdeletion Syndrome |
|
Wide mouth, Sparse hair, Sparse or absent eyelashes, Congenital hip dislocation, Ventricular sept... |
ORPHA:217346 |
Charge Syndrome |
|
Webbed neck, Labial hypoplasia, Aplasia of the semicircular canal, External genital hypoplasia, C... |
OMIM:214800 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Enamel hypoplasia, Dysphagia, Hypodontia |
OMIM:616029 |
Dentin Dysplasia, Type I |
|
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... |
OMIM:125400 |
Fanconi Anemia, Complementation Group B |
|
Duodenal atresia, Absent thumb, Micropenis, Overfolded helix, Tracheoesophageal fistula, Hypergon... |
OMIM:300514 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
High palate, Dental crowding, Narrow mouth, Narrow palate, Short palpebral fissure, Long philtrum... |
OMIM:616078 |
2Q37 Microdeletion Syndrome |
|
Short metacarpal, Sparse eyebrow, Pyloric stenosis, Umbilical hernia, Clinodactyly of the 5th fin... |
ORPHA:1001 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Amelogenesis Imperfecta, Type Ih |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... |
OMIM:616221 |
Hypospadias-Intellectual Disability, Goldblatt Type Syndrome |
|
Abnormal palate morphology, Hypospadias, Convex nasal ridge, Synophrys |
ORPHA:2261 |
Autosomal Recessive Robinow Syndrome |
|
Wide mouth, Abnormality of the dentition, Short philtrum, Depressed nasal bridge, Downslanted pal... |
ORPHA:1507 |
Trisomy 4P |
|
Thick eyebrow, Hypospadias, Abnormality of the dentition, Depressed nasal bridge, Carious teeth, ... |
ORPHA:1738 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... |
OMIM:125500 |
Opitz Gbbb Syndrome |
|
High palate, Cleft palate, Tracheoesophageal fistula, Downslanted palpebral fissures, Umbilical h... |
ORPHA:2745 |
Wiedemann-Steiner Syndrome |
|
High palate, Tapered finger, Rhizomelia, Long eyelashes, Sacral dimple, Clinodactyly of the 5th f... |
ORPHA:319182 |
Blepharoptosis, Myopia, And Ectopia Lentis |
|
Congenital ptosis, Ectopia lentis, Increased axial length of the globe |
OMIM:110150 |
Holoprosencephaly 9 |
|
Cleft upper lip, Dental malocclusion, Decreased response to growth hormone stimulation test, Cryp... |
OMIM:610829 |
Craniofrontonasal Dysplasia |
|
High palate, Abnormality of hair texture, Abnormality of the dentition, Down-sloping shoulders, D... |
ORPHA:1520 |
Teebi Hypertelorism Syndrome 2 |
|
High palate, Thick eyebrow, Cleft palate, Everted lower lip vermilion, Hypospadias, Broad nasal t... |
OMIM:619736 |
Postorgasmic Illness Syndrome |
|
Abnormality of the nose, Xerostomia, Hyperhidrosis |
ORPHA:279947 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Nephrolithiasis, Abnormal eyebrow morphology, Hypoplasia of penis, Hypodontia, Depressed nasal ri... |
ORPHA:1816 |
Fryns Syndrome |
|
High palate, Wide mouth, Abnormal cardiac septum morphology, Cleft palate, Tented upper lip vermi... |
ORPHA:2059 |
Duane Retraction Syndrome |
|
Cleft palate, Hypoplasia of the radius, Anorectal anomaly, Skeletal muscle atrophy, Talipes equin... |
ORPHA:233 |
Axial Mesodermal Dysplasia Spectrum |
|
Tracheoesophageal fistula, Abnormality of the ureter, Omphalocele, Anorectal anomaly, Anal atresi... |
ORPHA:1834 |
Dextrocardia |
|
Abnormality of the ureter, Congenital hip dislocation, Pancreatic hypoplasia, Abnormal pulmonary ... |
ORPHA:1666 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the ulna, Hypoplastic pelvis, P... |
OMIM:208500 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Abnormality of the ear, Sparse hair, Abnormality of the dent... |
ORPHA:3455 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Anal atresia, Abnormality of femur morphology, Narrow palate, Tooth agenesis, Cryptorchidism, Con... |
ORPHA:2063 |
N Syndrome |
|
Hypospadias, Cryptorchidism, Abnormal eyelid morphology |
ORPHA:2608 |
Anal Canal Carcinoma |
|
Anal canal squamous carcinoma |
OMIM:105580 |
Mullegama-Klein-Martinez Syndrome |
|
Abnormal cardiac septum morphology, Cleft palate, Short philtrum, Clinodactyly of the 5th finger,... |
OMIM:301022 |
Pendred Syndrome |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse hair, Cleft palate, Sparse eyebrow, Microdontia, Carious teeth, Hypoplasia of the maxilla,... |
OMIM:129900 |
Trisomy 1Q |
|
Cleft palate, Ventricular septal defect, Ambiguous genitalia, Downslanted palpebral fissures, Omp... |
ORPHA:261344 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology |
OMIM:612529 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse eyebrow, Lipodystrophy, Skeletal muscle atrophy, Flexion contracture, Gingivitis, Thin ski... |
ORPHA:75496 |
Johanson-Blizzard Syndrome |
|
Abnormal cardiac septum morphology, Exocrine pancreatic insufficiency, Alopecia, Abnormality of t... |
ORPHA:2315 |
Hadziselimovic Syndrome |
|
High palate, Anal atresia, U-Shaped upper lip vermilion, Low anterior hairline, Atrial septal def... |
OMIM:612946 |
Treacher Collins Syndrome 3 |
|
Conductive hearing impairment, Abnormality of the outer ear, Microtia |
OMIM:248390 |
Mosaic Trisomy 9 |
|
High palate, Cleft palate, Abnormal liver lobulation, Micromelia, Finger clinodactyly, Ventricula... |
ORPHA:99776 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
High palate, Multiple joint contractures, Respiratory distress, Stroke, Slender long bones with n... |
ORPHA:536467 |
Lipoid Proteinosis |
|
High palate, Abnormal oral mucosa morphology, Tongue nodules, Hyperkeratosis, Microglossia, Thick... |
ORPHA:530 |
Meier-Gorlin Syndrome 1 |
|
High palate, Respiratory distress, Cleft palate, Hyperconvex nail, Absent glenoid fossa, Microdon... |
OMIM:224690 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Pulmonary hypoplasia, Omphalocele, Short long bone, Abnormal heart morphology, Flexion contractur... |
OMIM:263210 |
Hall-Riggs Mental Retardation Syndrome |
|
U-Shaped upper lip vermilion, Hypoplasia of the primary teeth, Depressed nasal bridge, Microdonti... |
OMIM:234250 |
Floating-Harbor Syndrome |
|
Wide mouth, Bulbous nose, Short philtrum, Microdontia, Carious teeth, Varicocele, Long eyelashes,... |
OMIM:136140 |
Trisomy 8Q |
|
Myelomeningocele, High palate, Hypoplasia of penis, Cleft palate, Upslanted palpebral fissure, Ev... |
ORPHA:1752 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Microcornea, Microphthalmia |
ORPHA:2432 |
48,Xxxy Syndrome |
|
Cleft palate, Down-sloping shoulders, Delayed eruption of teeth, Carious teeth, Radioulnar synost... |
ORPHA:96263 |
Faciothoracogenital Syndrome |
|
Prominent scrotal raphe, Glandular hypospadias, Long philtrum, Shawl scrotum, Anteverted nares, T... |
OMIM:227320 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
8P23.1 Microdeletion Syndrome |
|
High palate, Abnormal cardiac septum morphology, Atrioventricular canal defect, Tapered finger, D... |
ORPHA:251071 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Anal atresia, Urethral atresia, Atrioventricular canal defect, Tracheoesophageal fistula, Short h... |
OMIM:314390 |
49,Xxxxy Syndrome |
|
Cleft palate, Down-sloping shoulders, Delayed eruption of teeth, Carious teeth, Radioulnar synost... |
ORPHA:96264 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Micro... |
OMIM:618500 |
Degcags Syndrome |
|
High palate, Wide mouth, Hypertrichosis, Hiatus hernia, Hepatomegaly, Abnormal renal medulla morp... |
OMIM:619488 |
Robinow Syndrome |
|
Dental crowding, External genital hypoplasia, Triangular mouth, Broad nasal tip, Depressed nasal ... |
ORPHA:97360 |
Brooke-Spiegler Syndrome |
|
Abnormality of the sublingual glands, Salivary gland neoplasm, Abnormality of the submandibular g... |
ORPHA:79493 |
Igg4-Related Submandibular Gland Disease |
|
Abnormal pancreas morphology, Sialadenitis, Facial edema, Prostatitis, Xerostomia, Abnormal saliv... |
ORPHA:449432 |
Xp22.13P22.2 Duplication Syndrome |
|
High palate, 2-3 toe syndactyly, Sparse hair, Congenital diaphragmatic hernia, Small hand, Recurr... |
ORPHA:284180 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
Rapp-Hodgkin Syndrome |
|
Sparse hair, Cleft palate, Absent lacrimal punctum, Microdontia, Hypoplasia of the maxilla, Conic... |
OMIM:129400 |
Multiple Pterygium Syndrome, Escobar Variant |
|
High palate, Multiple joint contractures, Triangular mouth, Cleft palate, Weakness of facial musc... |
OMIM:265000 |
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Microtia |
ORPHA:139450 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... |
OMIM:304400 |
Mosaic Trisomy 1 |
|
Wide mouth, Abnormal pinna morphology, Cleft palate, 2-3 finger syndactyly, Finger clinodactyly, ... |
ORPHA:1692 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Cleft palate, Microdontia, Abnormality of fibula morphology, Downslanted palpebral fissures, Sand... |
ORPHA:1812 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Hepatomegaly, Advanced eruption of teeth, Lipodystrophy, Polycystic ovaries, Loss o... |
ORPHA:2348 |
Zaki Syndrome |
|
High palate, Wide mouth, Sparse eyebrow, Short philtrum, Hypoplasia of the phalanges of the toes,... |
OMIM:619648 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:311895 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Narrow palpebral fissure, Cataract, Bilateral microphthalmos |
OMIM:608763 |
Intestinal Botulism |
|
Dysphagia, Xerostomia, Diarrhea |
ORPHA:178481 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
High palate, Abnormal pinna morphology, Elbow ankylosis, Hypoplasia of the radius, Femoral bowing... |
OMIM:276820 |
Polyposis Syndrome, Hereditary Mixed, 2 |
|
Adenomatous colonic polyposis, Colon cancer, Juvenile colonic polyposis, Hyperplastic colonic pol... |
OMIM:610069 |
Hereditary Acrokeratotic Poikiloderma |
|
Narrow mouth, Ectropion, Abnormal preputium morphology, Open bite, Abnormal renal tubule morpholo... |
ORPHA:2907 |
Meckel Syndrome |
|
Aplasia/Hypoplasia of the tongue, Cleft palate, Anencephaly, Ambiguous genitalia, Furrowed tongue... |
ORPHA:564 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea |
OMIM:269400 |
Congenital Varicella Syndrome |
|
Cataract, Microphthalmia |
ORPHA:291 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Sensorineural hearing impairment, Talipes equinovarus, Hepatomegaly, Flexion contracture, Steator... |
OMIM:616263 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Profound sensorineural hearing impairment, Microtia, first degree, Aplasia of the inner ear, Ante... |
OMIM:610706 |
1Q21.1 Microdeletion Syndrome |
|
High palate, Bulbous nose, Long philtrum, Epicanthus, Ankyloglossia, Hydronephrosis, Cryptorchidi... |
ORPHA:250989 |
Liver Disease, Severe Congenital |
|
Hydrocele testis, Chronic gastritis, Exocrine pancreatic insufficiency, Blue nevus, Hepatomegaly,... |
OMIM:619991 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Glycosuria, Median cleft lip and pa... |
ORPHA:699 |
Amelogenesis Imperfecta, Type If |
|
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color |
OMIM:616270 |
Foveal Hypoplasia 2 |
|
Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
High palate, Wide mouth, Cone-shaped epiphyses of the phalanges of the hand, Hepatomegaly, Nephro... |
OMIM:266920 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
High palate, Cleft palate, Sparse eyebrow, Short philtrum, Ventricular septal defect, Downslanted... |
OMIM:612530 |
Dyskeratosis Congenita |
|
Telangiectasia of the skin, Hepatomegaly, Sparse hair, Alopecia, Tracheoesophageal fistula, Abnor... |
ORPHA:1775 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Microtia |
OMIM:612138 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Delayed eruption of teeth, Tapered finger, Downslanted palpebral fissures, Cigarette... |
OMIM:612350 |
Igg4-Related Thyroid Disease |
|
Abnormality of the pituitary gland, Sialadenitis, Graves disease, Euthyroid goiter, Abnormality o... |
ORPHA:64744 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Hydrocele testis, Sparse scalp hair, Chronic kidney disease, Reduced subcutaneous adipose tissue,... |
OMIM:137940 |
Meier-Gorlin Syndrome 8 |
|
Low-set ears, Microtia |
OMIM:617564 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Hydrocele testis, High palate, Cleft palate, Overfolded helix, Pulmonary hypoplasia, Open mouth, ... |
OMIM:614080 |
Schimke Immuno-Osseous Dysplasia |
|
Pancreatitis, Stroke, Microdontia, Abnormal femoral head morphology, Abnormal proportion of naive... |
ORPHA:1830 |
Erythermalgia, Primary |
|
Diarrhea, Xerostomia, Constipation, Hyperhidrosis |
OMIM:133020 |
Amelogenesis Imperfecta, Type Iv |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta |
OMIM:104510 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent nipple, Hypodontia, Everted lower lip vermilion, Depressed nasal bridge, Xerostomia, Hypop... |
OMIM:614941 |
Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology |
ORPHA:31 |
Smith-Lemli-Opitz Syndrome |
|
Wide mouth, Cleft palate, Atrioventricular canal defect, Advanced eruption of teeth, Ulnar deviat... |
ORPHA:818 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Neutropenia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, S... |
OMIM:232220 |
Abruzzo-Erickson Syndrome |
|
Hypospadias, Cleft palate |
OMIM:302905 |
Fg Syndrome Type 1 |
|
High palate, Wide mouth, Malrotation of colon, Limited elbow extension and supination, Pyloric st... |
ORPHA:93932 |
Rhyns Syndrome |
|
Nephronophthisis, Hypoplastic ilia, Multicystic kidney dysplasia, Hypopituitarism, Abnormal long ... |
ORPHA:140976 |
Cardiocranial Syndrome, Pfeiffer Type |
|
High, narrow palate, Micropenis, Hypospadias, Bifid uvula, Downslanted palpebral fissures, Broad ... |
ORPHA:2872 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 3 |
|
Wide mouth, Bulbous nose, Cleft palate, Eclabion, Short philtrum, Broad nasal tip, Microdontia, D... |
OMIM:619950 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Triangular mouth, Cleft palate, Clitoral hypoplasia, Ventricular septal defect, Long eyelashes, A... |
OMIM:616894 |
Lacrimoauriculodentodigital Syndrome |
|
Nephrosclerosis, Aplasia of the parotid gland, Hypodontia, Renal agenesis, Absence of Stensen duc... |
OMIM:149730 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:603641 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Coffin-Siris Syndrome 1 |
|
High palate, Wide mouth, Abnormal pinna morphology, Hypertrichosis, Short sternum, Cleft palate, ... |
OMIM:135900 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
High palate, Eruption failure, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Slanting of th... |
ORPHA:476126 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Wide mouth, Prominent fingertip pads, Single transverse palmar crease, Thick eyebrow, Long palpeb... |
ORPHA:466950 |
Abruzzo-Erickson Syndrome |
|
Cleft palate, Hypospadias, Coronal hypospadias, Epicanthus, Abnormal localization of kidney, Abno... |
ORPHA:921 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Supraventricular arrhythmia, Pancreatitis, Hepatomegaly, Acr... |
ORPHA:280365 |
Anencephaly 2 |
|
Median cleft palate, Short palpebral fissure, Anencephaly, Bifid nose, Median cleft lip, Cleft of... |
OMIM:619452 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Narrow mouth, Atrial septal defect, Cleft palate, Thin vermilion border, Long philtrum, Low-set, ... |
OMIM:615502 |
48,Xyyy Syndrome |
|
High palate, Irregularly spaced teeth, Depressed nasal bridge, Recurrent upper respiratory tract ... |
ORPHA:99329 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Carious teeth, Prominent nose, Flexion contracture, Generalized hypoplasia of dental enamel |
OMIM:203550 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Overlapping toe, Atrial septal defect, Cryptorchidism, Hypospadias... |
OMIM:618316 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Wide mouth, Labial hypoplasia, Sparse eyebrow, Short philtrum, Microdontia, Tapered finger, Long ... |
OMIM:619293 |
Cerebrocostomandibular Syndrome |
|
Myelomeningocele, Cleft palate, Glossoptosis, Short hard palate, Multicystic kidney dysplasia, Hy... |
ORPHA:1393 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Microtia |
OMIM:618158 |
Eec Syndrome |
|
Cleft palate, Sparse eyebrow, Coarse hair, Microdontia, Carious teeth, Abnormality of the inner e... |
ORPHA:1896 |
Holoprosencephaly |
|
Abnormal antihelix morphology, Ventricular septal defect, Median cleft lip and palate, Solitary m... |
ORPHA:2162 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Intestinal m... |
OMIM:601163 |
Floating-Harbor Syndrome |
|
Wide mouth, Broad nasal tip, Short philtrum, Long nose, Microdontia, Carious teeth, Varicocele, C... |
ORPHA:2044 |
8P Inverted Duplication/Deletion Syndrome |
|
Wide mouth, Aplasia/Hypoplasia of the gallbladder, Abnormal heart morphology, Precocious puberty,... |
ORPHA:96092 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Anal atresia, Hypoplasia of penis, Hypospadias, Abnormal palate morphology, Cryptorchidism |
ORPHA:1381 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Hypospadias, Gingival overgrowth, Cleft palate, Ptosis |
ORPHA:2013 |
Mulibrey Nanism |
|
Dental malocclusion, Hypodontia, Depressed nasal bridge, Hydrops fetalis, Enamel hypoplasia, Hypo... |
OMIM:253250 |
Dentin Dysplasia |
|
Abnormality of dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Wide mouth, Posterior helix pit, Hypertrichosis, Hepatomegaly, Hepatoblastoma, Cleft palate, Shor... |
OMIM:312870 |
Ulnar-Mammary Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of the humerus, Pyloric stenosis, Ventricular septal ... |
ORPHA:3138 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
High palate, Blind vagina, Bifid scrotum, Micropenis, Glandular hypospadias, Penile hypospadias, ... |
ORPHA:456328 |
Arthrogryposis, Distal, Type 1C |
|
High palate, Narrow mouth, Pursed lips, Cleft palate, Thin vermilion border, Bifid uvula, Cleft l... |
OMIM:619110 |
Ellis Van Creveld Syndrome |
|
Atrioventricular canal defect, Abnormality of the dentition, Abnormality of the ureter, Micromeli... |
ORPHA:289 |
Waardenburg Syndrome, Type 2E |
|
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hypoplasia of the semicircu... |
OMIM:611584 |
Filippi Syndrome |
|
Hypertrichosis, Hypodontia, Sparse hair, Thin vermilion border, Short philtrum, Cutaneous syndact... |
OMIM:272440 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia |
OMIM:232700 |
Joubert Syndrome 26 |
|
Decreased response to growth hormone stimulation test, Cleft palate, Micropenis, Panhypopituitari... |
OMIM:616784 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Flexion contracture of finger, Hepatomegaly, Hypergonadotropic hypogonadism, Cervical lymphadenop... |
OMIM:602782 |
Branchiootorenal Syndrome 1 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Dilatated internal auditory cana... |
OMIM:113650 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
OMIM:172500 |
Treacher Collins Syndrome 2 |
|
Conductive hearing impairment, Microtia |
OMIM:613717 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Sparse hair, Proximal symphalangism of hands, Abnormality of the dentition, Anteriorly placed anu... |
OMIM:151050 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Slender long bones with narrow diaphyses, Cleft palate, Abnormality ... |
ORPHA:536471 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Thin upper lip vermilion, Hyperhidrosis |
OMIM:613576 |
Geographic And Fissured Tongue |
|
Geographic tongue, Furrowed tongue |
OMIM:137400 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Cleft upper lip, Blepharitis, Lacrimal duct atresia, Ankyloblepharon, Supernumerary nipple, Spars... |
OMIM:106260 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... |
ORPHA:2779 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Abnormal antihelix morphology, Large earlobe, Conductive hearing impairment, Microtia, Overfolded... |
ORPHA:79113 |
Amelogenesis Imperfecta, Type Ia |
|
Taurodontia, Amelogenesis imperfecta, Generalized microdontia |
OMIM:104530 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Iris coloboma, Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Wide mouth, Slender finger, Sparse hair, Short fourth metatarsal, Sparse eyebrow, Short philtrum,... |
OMIM:619841 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Kabuki Syndrome |
|
High palate, Abnormal cardiac septum morphology, Cleft palate, Abnormality of the dentition, Micr... |
ORPHA:2322 |
Cerebrocostomandibular Syndrome |
|
High palate, Glossoptosis, Abnormality of the dentition, Short hard palate, Long philtrum, Epican... |
OMIM:117650 |
Dubowitz Syndrome |
|
High palate, Wide mouth, Abnormal antihelix morphology, Abnormality of the dentition, Delayed eru... |
ORPHA:235 |
Omodysplasia 2 |
|
Micropenis, Hypospadias, Depressed nasal bridge, Long philtrum, Bifid nasal tip, Cryptorchidism |
OMIM:164745 |
Iatrogenic Botulism |
|
Dysphagia, Xerostomia, Constipation |
ORPHA:254509 |
Proximal Xq28 Duplication Syndrome |
|
Everted lower lip vermilion, Hypospadias, Epicanthus, Tented upper lip vermilion, Cryptorchidism,... |
ORPHA:1762 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Kaufman Oculocerebrofacial Syndrome |
|
High palate, Abnormal pinna morphology, Sparse hair, Sparse eyebrow, Congenital hip dislocation, ... |
OMIM:244450 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
High palate, Low-set ears, Supernumerary nipple, Tricuspid regurgitation, Atrioventricular canal ... |
OMIM:618929 |
Temple Syndrome |
|
High palate, Cleft palate, Depressed nasal bridge, Short philtrum, Bifid uvula, Wide nose, Decrea... |
OMIM:616222 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Cleft palate, Upslanted palpebral fissure, Intestinal malrotation, Depressed nasal bridge, Abnorm... |
ORPHA:404440 |
Achalasia, Familial Esophageal |
|
Achalasia, Xerostomia |
OMIM:200400 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Anal atresia, Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Microtia, Upsla... |
ORPHA:1352 |
Renpenning Syndrome |
|
Cleft palate, Alopecia, Short philtrum, Macrodontia, Mandibular prognathia, Skeletal muscle atrop... |
ORPHA:3242 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... |
OMIM:303110 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Premature loss of teeth, Periodontitis, Inguinal hernia, Arachnodactyly, Palmoplantar cutis laxa,... |
OMIM:130080 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Anal atresia, Atrial septal defect, Decreased response to growth h... |
OMIM:220210 |
Isolated Splenogonadal Fusion |
|
Hydrocele testis, Abnormal penis morphology, Unilateral cryptorchidism, Testicular mass, Bilatera... |
ORPHA:457083 |
Pallister-Hall Syndrome |
|
Cleft palate, Hypothalamic hamartoma, Decreased circulating cortisol level, Ventricular septal de... |
OMIM:146510 |
Stuve-Wiedemann Syndrome 1 |
|
Apnea, Pursed lips, Sparse hair, Femoral bowing, Carious teeth, Ulnar deviation of finger, Single... |
OMIM:601559 |
Distal Monosomy 15Q |
|
Abnormal cardiac septum morphology, Double outlet right ventricle with doubly committed ventricul... |
ORPHA:1596 |
Genitopalatocardiac Syndrome |
|
Low-set ears, Abnormal cardiac septum morphology, Gonadal dysgenesis, male, Congenital diaphragma... |
ORPHA:2075 |
Chromosome 16Q22 Deletion Syndrome |
|
High palate, Short palpebral fissure, Upslanted palpebral fissure, Hypospadias, Depressed nasal b... |
OMIM:614541 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Anteverted nares, Short hard palate, Midline defect of the nose, Ptosis |
ORPHA:1969 |
Waardenburg Syndrome, Type 4C |
|
Lacrimal gland hypoplasia, White eyebrow, White eyelashes, Anosmia, Hypogonadism, Cryptorchidism,... |
OMIM:613266 |
Phenobarbital Embryopathy |
|
Epicanthus, Abnormal nasal base, Unilateral cleft lip, Hypospadias |
ORPHA:1919 |
Microtia With Meatal Atresia And Conductive Deafness |
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Conductive hearing impairment, Anotia, Aplasia/Hypoplasia of the middle ear, Microtia |
OMIM:251800 |
Short Rib-Polydactyly Syndrome |
|
Cleft palate, Nephronophthisis, Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the l... |
ORPHA:1505 |
Microtia |
|
Abnormal pinna morphology, Microtia, Anotia, Atresia of the external auditory canal, Hypoplastic ... |
ORPHA:83463 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Stomach cancer, Abnormality of the ureter, Neoplasm of the small intestin... |
ORPHA:2869 |
Catel-Manzke Syndrome |
|
High palate, Cleft upper lip, Abnormal pinna morphology, Low-set ears, Clinodactyly of the 5th fi... |
OMIM:616145 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Hemifacial Atrophy, Progressive |
|
Horner syndrome, Microtia |
OMIM:141300 |
Rubinstein-Taybi Syndrome 1 |
|
High palate, Respiratory distress, Cleft palate, Prominent fingertip pads, Premature thelarche, F... |
OMIM:180849 |
Trichoodontoonychial Dysplasia With Bone Deficiency |
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Enamel hypoplasia, Anodontia, Supernumerary nipple |
OMIM:275450 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... |
OMIM:265380 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Anomalous pulmonary venous return, Congenital diaphragmatic hernia, Cleft palate, Inguinal hernia... |
ORPHA:2311 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Bulbous nose, Upslanted palpebral fissure, Hypospadias, Depressed nasal bridge, Long philtrum, Wi... |
OMIM:615761 |
Coxoauricular Syndrome |
|
Atresia of the external auditory canal, Hearing impairment, Microtia |
ORPHA:1508 |
Autosomal Dominant Cutis Laxa |
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Bladder diverticulum, Peripheral pulmonary artery stenosis, Talipes equinovarus, Unilateral renal... |
ORPHA:90348 |
Arterial Tortuosity Syndrome |
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Respiratory distress, Telangiectasia of the skin, Hiatus hernia, Abnormal carotid artery morpholo... |
ORPHA:3342 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
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Corneal opacity, Posterior embryotoxon, Iris coloboma, Cataract, Microphthalmia, Ptosis |
ORPHA:1473 |
Mental Retardation, Buenos Aires Type |
|
High palate, Wide mouth, Dental malocclusion, Hypospadias, Abnormality of the urinary system, Cur... |
OMIM:249630 |
Prader-Willi Syndrome Due To Translocation |
|
High palate, Wide mouth, Respiratory distress, External genital hypoplasia, Cleft palate, Clinoda... |
ORPHA:177907 |
Gracile Bone Dysplasia |
|
Ankyloglossia, Micropenis |
OMIM:602361 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Nephronophthisis, Micro... |
OMIM:184260 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Microtia |
OMIM:300946 |
Fanconi Anemia, Complementation Group L |
|
Cleft palate, Absent thumb, Hypoplastic sacrum, Tracheoesophageal fistula, Anotia, Bone marrow hy... |
OMIM:614083 |
Atelosteogenesis Type Iii |
|
High palate, Laryngotracheomalacia, Talipes equinovarus, Absent humerus, Micrognathia, Distal tap... |
ORPHA:56305 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Microtia, Low-set ears, Aganglionic megacolon, Abnormal pinna morphology |
OMIM:613603 |
Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia |
OMIM:613517 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Cleft palate, Facial hirsutism, Sparse eyebrow, Hypoplastic sacrum, Microdontia, Carious teeth, H... |
OMIM:604292 |
3-Hydroxyisobutyric Aciduria |
|
Microtia |
ORPHA:939 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology |
ORPHA:3196 |
Short Stature-Obesity Syndrome |
|
Microtia |
OMIM:269870 |
Fanconi Anemia, Complementation Group O |
|
Anal atresia, Miscarriage, External genital hypoplasia, Absent thumb, Hypoplasia of the radius, S... |
OMIM:613390 |
Fetal Trimethadione Syndrome |
|
High palate, Hypospadias, Depressed nasal bridge, Epicanthus, Ambiguous genitalia, Short nose, Sy... |
ORPHA:1913 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Tooth agenesis, Abnormality of the dentition, Xerostomia, Hypohidrosis, Breast aplasia... |
ORPHA:238468 |
Trisomy 18 |
|
Cleft palate, Abnormality of the upper urinary tract, Anencephaly, Abnormality of the upper limb,... |
ORPHA:3380 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Advanced eruption of teeth, Pyloric stenosis, Ventricular septal defec... |
ORPHA:261494 |
Fanconi Anemia, Complementation Group C |
|
Absent thumb, Hypergonadotropic hypogonadism, Ventricular septal defect, Horseshoe kidney, Comple... |
OMIM:227645 |
Deeah Syndrome |
|
High palate, Exocrine pancreatic insufficiency, Hepatomegaly, Short philtrum, Decreased circulati... |
OMIM:619004 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Narrow mouth, Talipes equinovarus, Short palpebral fissure, Cleft palate, Mi... |
OMIM:251230 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Hypospadias, Abnormal testis morphology, Abnormality of the dentition |
ORPHA:1548 |
Renal Cysts And Diabetes Syndrome |
|
Nephrolithiasis, Hypoplasia of the uterus, Bicornuate uterus, Atretic vas deferens, Unilateral re... |
OMIM:137920 |
Acrocephalopolydactyly |
|
Microtia |
ORPHA:221054 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
High palate, Overfolded helix, Hypoplasia of the radius, Clitoral hypoplasia, Hypoplasia of the u... |
OMIM:609945 |
1Q21.1 Microduplication Syndrome |
|
Talipes equinovarus, Gastroesophageal reflux, Hypospadias, Tetralogy of Fallot, Arthrogryposis mu... |
ORPHA:250994 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Micropenis, Hypospadias, Tongue fasciculations, Cryptorchidism, Ptosis |
OMIM:301830 |
Congenital Hypothyroidism |
|
Tracheoesophageal fistula, Abnormal epiphysis morphology, Umbilical hernia, Prolonged neonatal ja... |
ORPHA:442 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Sparse eyebrow, Alopecia, Delayed eruption of teeth, Long pe... |
OMIM:264090 |
Sc phocomelia syndrome |
|
Cleft upper lip, Aplasia of the ulna, Hip contracture, Aortic valve stenosis, Sparse hair, Fair h... |
OMIM:269000 |
7Q11.23 Microduplication Syndrome |
|
High palate, Overfolded helix, Short philtrum, Ventricular septal defect, Single transverse palma... |
ORPHA:96121 |
Yao Syndrome |
|
Diarrhea, Xerostomia, Oral ulcer |
OMIM:617321 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Talipes equinovarus, Short femur, Hy... |
OMIM:607143 |
Serkal Syndrome |
|
Sex reversal, Congenital diaphragmatic hernia, Pulmonic stenosis, Abnormal penis morphology, Malr... |
ORPHA:139466 |
Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Secundum atrial septal defect, Cleft palate, Hypoxemia, Micrognathia, Ureteral ste... |
ORPHA:2257 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Conductive hearing impairment, Microtia |
OMIM:248910 |
Al Amyloidosis |
|
Hepatomegaly, Renal interstitial amyloid deposits, Proteinuria, Postural hypotension with compens... |
ORPHA:85443 |
Colonic Atresia |
|
Colonic atresia |
OMIM:303650 |
Perlman Syndrome |
|
Hyperinsulinemia, Hepatomegaly, Open mouth, High, narrow palate, Hypoplasia of penis, Retrognathi... |
ORPHA:2849 |
Simpson-Golabi-Behmel Syndrome |
|
Wide mouth, Abnormal helix morphology, Hepatoblastoma, Cleft palate, Hepatomegaly, Aplasia/Hypopl... |
ORPHA:373 |
Pearson Marrow-Pancreas Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, 3-Methylglutaric aciduria, Steatorrhea, Thromboc... |
OMIM:557000 |
Acro-Renal-Mandibular Syndrome |
|
High palate, Aplasia/Hypoplasia of the tongue, Hypoplasia of the radius, Tracheoesophageal fistul... |
ORPHA:958 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
High palate, Conductive hearing impairment, Narrow mouth, Dislocated radial head, Talipes equinov... |
OMIM:602471 |
Atypical Werner Syndrome |
|
Telangiectasia of the skin, Hyperinsulinemia, Ovarian neoplasm, Alopecia, Lack of skin elasticity... |
ORPHA:79474 |
Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Hypoplastic left atrium, Ventricular septal defect, Horseshoe kidney, Hypo... |
OMIM:601186 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
High palate, Tooth malposition, Everted lower lip vermilion, Hypogonadotropic hypogonadism, Short... |
ORPHA:1387 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Molluscoid pseudotumors, Finger joint hypermobility, Hemothorax, Foot acroosteolysis, Metacarpoph... |
OMIM:130050 |
Parietal Foramina With Cleidocranial Dysplasia |
|
Microtia |
OMIM:168550 |
Cornelia De Lange Syndrome |
|
High palate, Cleft palate, Short 1st metacarpal, Micromelia, Delayed eruption of teeth, Radioulna... |
ORPHA:199 |
Prune Belly Syndrome |
|
Oligohydramnios, Anal atresia, Cryptorchidism, Xerostomia |
OMIM:100100 |
Botulism |
|
Dysphagia, Xerostomia, Constipation, Diarrhea |
ORPHA:1267 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Narrow mouth, High, narrow palate, Cleft palate, Branchial fistula, Recurrent urinary tract infec... |
ORPHA:261330 |
Prolidase Deficiency |
|
Hepatomegaly, Carious teeth, Genu valgum, Skin ulcer, White forelock, Splenomegaly, Micrognathia,... |
ORPHA:742 |
Meckel Syndrome, Type 10 |
|
Cleft palate, Micropenis, Hypospadias, Anencephaly, Bifid uvula, Epicanthus, Renal cyst, Narrow p... |
OMIM:614175 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Sensorineural hearing impairment, Drumstick terminal phalanges, Hepatosplenomegaly, Cholestasis, ... |
ORPHA:541423 |
Usher Syndrome Type 3 |
|
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology |
ORPHA:231183 |
Acrofrontofacionasal Dysostosis |
|
High palate, Cleft palate, Bifid scrotum, Aplasia/Hypoplasia of the eyebrow, Hypospadias, Everted... |
ORPHA:1784 |
Genitopalatocardiac Syndrome |
|
Cleft upper lip, Gonadal dysgenesis, male, Cleft palate, Hypospadias, Renal cyst |
OMIM:231060 |
Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... |
ORPHA:90646 |
Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia |
ORPHA:2871 |
Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, 11 pairs of ribs, Ventricular septal defect, Median cleft lip and palate, Omph... |
OMIM:264480 |
Focal Dermal Hypoplasia |
|
Labial hypoplasia, Hiatus hernia, Sparse hair, Cleft palate, Congenital hip dislocation, Delayed ... |
OMIM:305600 |
Wolf-Hirschhorn Syndrome |
|
Abnormal cardiac septum morphology, Cleft palate, Short philtrum, Downslanted palpebral fissures,... |
ORPHA:280 |
Congenital Primary Aphakia |
|
Congenital aphakia, Microphthalmia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segme... |
ORPHA:83461 |
Helix Syndrome |
|
Polydipsia, Xerostomia, Hypohidrosis, Anhidrosis, Hyperparathyroidism |
OMIM:617671 |
3C Syndrome |
|
Abnormal mitral valve morphology, Cleft palate, Atrioventricular canal defect, Ventricular septal... |
ORPHA:7 |
Fryns Syndrome |
|
Wide mouth, Abnormal helix morphology, Cleft palate, Prominent fingertip pads, Facial hirsutism, ... |
OMIM:229850 |
Ramos-Arroyo Syndrome |
|
Narrow mouth, Depressed nasal bridge, Xerostomia, Long philtrum, Carious teeth, Smooth tongue, Ch... |
ORPHA:1051 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Acetabular spurs, Postaxial polydactyly, Preaxial polydactyly, Pancreatic fibrosis, Femoral bowin... |
OMIM:615503 |
Recombinant 8 Syndrome |
|
Cleft palate, Abnormality of the dentition, Ventricular septal defect, Hypoplastic male external ... |
ORPHA:96167 |
8Q22.1 Microdeletion Syndrome |
|
Sparse eyebrow, Sparse eyelashes, Depressed nasal ridge, Abnormality of the dentition, Abnormalit... |
ORPHA:178303 |
Ane Syndrome |
|
Premature loss of teeth, Ulnar deviation of the hand, Multiple joint contractures, Decreased seru... |
ORPHA:157954 |
Cohen Syndrome |
|
Macrodontia of permanent maxillary central incisor, Short philtrum, Tapered finger, Narrow palm, ... |
OMIM:216550 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Bicornuate uterus, Cleft palate |
OMIM:258320 |
Buratti-Harel Syndrome |
|
High palate, Velopharyngeal insufficiency, Hypospadias, Sparse medial eyebrow, Bifid uvula, Downs... |
OMIM:619314 |